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Klinik für Allgemeine Kinder- und Jugendmedizin

Molekulargenetische Untersuchungen

Gene und Krankheiten

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Gene

Krankheiten

Molekulargenetische Untersuchungen

Gene
Gen Krankheit
ABCC8+del Diabetes mellitus, noninsulin-dependent
  Diabetes mellitus, permanent neonatal
  Diabetes mellitus, transient neonatal 2
  Hyperinsulinemic hypoglycemia, familial, 1
  Hypoglycemia of infancy, leucine-sensitive
ACADM (=MCAD)+del Acyl-CoA dehydrogenase medium chain deficiency (ACADM)
ACADVL (=VLCAD) Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD)
ACAN Osteochondritis dissecans, short stature, and early-onset osteoarthritis (OD)
  Spondyloepimetaphyseal dysplasia (SEDM), aggrecan type
  Spondyloepiphyseal dysplasia, Kimberley type (SEDK)
ACP5 Spondyloenchondrodysplasia with immune dysregulation (SPENCDI)
ACTA2 Aortic aneurysm, familial thoracic 6 (AAT6)
  Congenital mydriasis
  Moyamoya disease 5 (MYMY5)
  Multisystemic smooth muscle dysfunction syndrome
ACVR1 Fibrodysplasia ossificans progressiva (FOP)
ADAMTSL2 Geleophysic dysplasia (GLPD)
AGPAT2+del Lipodystrophy, congenital generalized, type 1 (CGL1)
AKT1 Breast cancer, somatic (BC)
  Colorectal cancer, somatic (CRC) (= Colon cancer)
  Ovarian cancer, somatic (OC)
  Proteus syndrome, somatic (PROTEUSS)
  Schizophrenia, susceptibility to
ALDOB+del Fructose intolerance, hereditary (HFI)
ALPL (=TNSALP)+del Hypophosphatasia (HOPS), adult, childhood, infantile or perinatal lethal
  Odontohypophosphatasia
ALX4+del foramina parietalia permagna (FPP)
  frontonasal dysplasia type 2 (FND2)
  parietal foramina 2 (PFM2)
  Potocki-Shaffer syndrome (PSS) (= 11p11.2 deletion syndrome)
ANTXR1 (=TEM8) Hemangioma, capillary infantile, susceptibility to (HCI)
ANTXR2 (=CMG2) infantile systemic hyalinosis (ISH)
  juvenile hyaline fibromatosis (JHF)
APC+del+dup Adenoma, periampullary, somatic
  Adenomatous polyposis coli, familial (FAP)
  Brain tumor-polyposis syndrome 2 (Gardner syndrome (GS))
  Colorectal cancer, somatic (CRC)
  Desmoid disease, hereditary (HDD)
  Gastric cancer, somatic
  Hepatoblastoma, somatic
  Medulloblastoma (MDB), somatic
APOC2+del Apolipoprotein C-II deficiency
ARSE+del X-linked recessive chondrodysplasia punctata type 1 (CPXR1)
ARTEMIS (offiz. DCLRE1C)+del Omenn syndrome (Reticuloendotheliosis, familial, with eosinophilia)
  severe combined immunodeficiency Athabaskan-type (SCIDA)
  severe combined immunodeficiency with sensitivity to ionizing radiation (RS-SCID)
ARX+del+dup Corpus callosum, agenesis of (ACC), with abnormal genitalia (Proud syndrome)
  Epileptic encephalopathy, early infantile, 1 (EIEE1) (West syndrome, X-linked)
  Hydranencephaly with abnormal genitalia
  Lissencephaly, X-linked 2 (LISX2) (Lissencephaly, X-linked, with ambiguous genitalia (XLAG))
  Mental retardation, X-linked, with or without seizures, ARX-related (MRXARX)
  Partington X-linked mental retardation syndrome (PRTS)
ATL1+del Neuropathy, hereditary sensory, type ID (HSN1D)
  Spastic paraplegia-3A (SPG3A) (Strumpell-Lorrain syndrome)
ATP6V0A2+del Cutis laxa, autosomal recessive, type IIA (ARCL2A)
  Wrinkly skin syndrome (WSS)
ATP7A+del+dup Menkes disease (= Kinky hair disease)
  Occipital horn syndrome (OHS)
  Spinal muscular atrophy, distal, X-linked 3 (SMAX3)
ATRX+del+dup Alpha-thalassemia myelodysplasia syndrome (ATMDS)
  Alpha-thalassemia/mental retardation syndrome, X-linked (ATRX)
  Mental retardation-hypotonic facies syndrome, X-linked (MRXHF1)
Gen Krankheit
B3GALT6 Ehlers-Danlos syndrome, progeroid type, 2 (EDSP2)
  Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures (SEMDJL1)
B3GALTL+del Peters-plus syndrome (PpS)
B4GALT7 Ehlers-Danlos syndrome, progeroid form (EDSP)
BARX2 Role in chondrogenesis, myoblast fusion, ocular gland branching, muscle growth and regeneration
BCOR+del Microphthalmia, syndromic 1 (MCOPS1)
BCOR+del Microphthalmia, syndromic 2 (MCOPS2)
BMP1 Osteogenesis imperfecta,autosomal recessive
BMP2+del+dup Brachydactyly, type A2 (BDA2)
  HFE hemochromatosis, modifier of
BMP4 Congenital 'healed' cleft lip (CHCL)
  Microphthalmia, syndromic 6 (MCOPS6)
  orofacial cleft type 11 (OFC11)
BMPR1A+del Juvenile polyposis of stomach
  Juvenile polyposis syndrome (JPS)
  Polyposis syndrome, hereditary mixed, 2 (HMPS2)
BMPR1Adel Chromosome 10q23 deletion syndrome
  Juvenile polyposis of infancy
BMPR1B acromesomelic chondrodysplasia with genital anomalies (AMDGA)
  brachydactyly, type A2 (BDA2)
BRAF Adenocarcinoma of lung, somatic
  Cardiofaciocutaneous syndrome (CFC syndrome)
  Colorectal cancer, somatic (CRC)
  LEOPARD syndrome 3
  Melanoma, malignant, somatic
  Nonsmall cell lung cancer, somatic
  Noonan syndrome 7
BSCL2+del Lipodystrophy, congenital generalized, type 2 (CGL2) (Berardinelli-Seip congenital lipodystrophy, type 2)
  Neuronopathy, distal hereditary motor, type VA (HMN5A)
  Spastic paraplegia 17, autosomal dominant (SPG17) (Silver snydrome)
Gen Krankheit
C1NH (offiz. SERPING1)+del Angioedema, hereditary, type I (HAE1) (C1 esterase inhibitor, deficiency of)
  Angioedema, hereditary, type II (HAE2)
  Complement component 4 (C4), partial deficiency of
C6ST1 (offiz. CHST3) Larsen syndrome, autosomal recessive
  Spondyloepiphyseal dysplasia with congenital joint dislocations (SED Omani type)
C7orf10 Glutaric aciduria III (GA3) (Glutaryl-CoA oxidase deficiency)
C8B Complement component 8 deficiency, type II (C8D2)
C16orf57 (offiz. USB1) Poikiloderma with neutropenia (PN) (Poikiloderma with neutropenia, Clericuzio-type)
CANT1+del Desbuquois dysplasia (DBQD)
CAV1 Lipodystrophy, congenital generalized, type 3 (CGL3) (Berardinelli-Seip congenital lipodystrophy, type 3)
  Pulmonary hypertension, primary, 3 (PPH3)
CBL Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia (NSL)
CCDC8 3M syndrome-3 (3M3)
CD96 C syndrome (CSYN) (Opitz trigonocephaly syndrome)
  C-like syndrome (CLSYN) (Opitz trigonocephaly-like syndrome)
CDK1 (=CDC2) Schlüsselrolle bei der Zellzyklus-Kontrolle
CDKL5+del+dup Angelman syndrome-like
  Epileptic encephalopathy, early infantile, 2 (EIEE2) (Rett syndrome, atypical, CDKL5-related)
CDKN1C+dup Beckwith-Wiedemann syndrome (BWS)
  IMAGE (Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies) syndrome
CDMP1 (offiz. GDF5) Acromesomelic dysplasia, Hunter-Thompson type (AMDH)
  Brachydactyly, type A2 (BDA2) (=Brachymesophalangy II)
  Brachydactyly, type C (BDC) (Brachydactyly, Haws type)
  Chondrodysplasia, Grebe type
  Fibular hypoplasia and complex brachydactyly (Du Pan syndrome (DPS))
  Multiple synostoses syndrome 2 (SYNS2)
  Osteoarthritis susceptibility 5 (OS5)
  Symphalangism, proximal (SYM1) (Cushing symphalangism)
CEBPA Leukemia, acute myeloid
CEP19 Obesity, morbide
CGKI (offiz. PRKG1) nitric oxide/cGMP signaling pathway, key mediators
  signal transduction processes in diverse cell types, important components
CHD7 (=KAL5)+del CHARGE syndrome
  hypogonadotropic hypogonadism, idiopathic (IHH)
  idiopathic scoliosis 3, susceptibility to (IS3)
  Kallmann syndrome 5 (KAL5)
CHRNA3 Lung cancer susceptibility 2 (LNCR2)
  Smoking as a quantitative trait locus 3 (SQTL3)
CHST10 Rolle in der HNK1-Biosynthese (neurodevelopment and synaptic plasticity)
CHST11 Sulfatstoffwechsel
CHST12 Sulfatstoffwechsel
CHST3 (=C6ST1) Larsen syndrome, autosomal recessive
  Spondyloepiphyseal dysplasia with congenital joint dislocations (= SED Omani type)
CMG2 (offiziell ANTXR2) infantile systemic hyalinosis (ISH)
  juvenile hyaline fibromatosis (JHF)
C-MLP (offiz. MLP) Myelofibrosis with myeloid metaplasia, somatic (MMM)
  Thrombocythemia 2 (THCYT2)
  Thrombocytopenia, congenital amegakaryocytic (CAMT)
COL1A1+del Caffey disease (CAFFD) (infantile cortical hyperostosis)
  Ehlers-Danlos syndrome type I (EDS1) (Ehlers-Danlos syndrome gravis)
  Ehlers-Danlos syndrome type VIIA (EDS7A) (EDS, arthrochalasia type)
  Osteogenesis imperfecta type I (OI1) (OI tarda, OI with blue sclerae)
  Osteogenesis imperfecta type IIA (OI2A) (OI congenita, perinathal lethal form)
  Osteogenesis imperfecta type III (OI3) (OI, progressively deforming, with normal sclerae)
  Osteogenesis imperfecta type IV (OI4) (OI with normal sclerae)
  Osteoporosis, susceptibility to (OSTEOP)
COL1A2+del Ehlers-Danlos syndrome, cardiac valvular form (EDSCV)
  Ehlers-Danlos syndrome, type VIIB (EDS7B) (EDS, arthrochalasia type)
  Marfan syndrome, atypical
  Osteogenesis imperfecta type IIA (OI2A) (OI congenita, perinathal lethal form)
  Osteogenesis imperfecta type III (OI3) (OI, progressively deforming, with normal sclerae)
  Osteogenesis imperfecta type IV (OI4) (OI with normal sclerae)
  Osteoporosis, postmenopausal
COL2A1+del Achondrogenesis type II (ACG2) (ACG, Langer-Saldino type)
  Avascular necrosis of the femoral head (ANFH)
  Czech dysplasia (pseudorheumatoid dysplasia, progressive, with hypoplastic toes)
  Epiphyseal dysplasia, multiple, with myopia and deafness (EDMMD)
  Hypochondrogenesis
  Kniest dysplasia (KD)
  Legg-Calve-Perthes disease (LCPD; LCP)
  Osteoarthritis with mild chondrodysplasia (OACD)
  Otospondylomegaepiphyseal dysplasia (OSMED) (Nance-Sweeney chondrodysplasia)
  Platyspondylic lethal skeletal dysplasia, Luton type (PLSD-L)
  Platyspondylic skeletal dysplasia, Torrance type (PLSD-T)
  rhegmatogenous retinal detachment, autosomal dominant (DRRD)
  SED, Namaqualand type
  Spondyloepimetaphyseal dysplasia, Strudwick type (SEMD-STR)
  Spondyloepiphyseal dysplasia congenita (SEDC)
  Spondyloperipheral dysplasia (SPD)
  Stickler sydrome, type I, nonsyndromic ocular (STL1O)
  Stickler syndrome, type I (STL1) (Stickler syndrome, vitreous type 1)
  Vitreoretinopathy with phalangeal epiphyseal dysplasia
  Wagner syndrome type 2 (WGN2)
COL3A1+del aortic aneurysm, familial abdominal 1 (AAA1)
  Ehlers-Danlos syndrome, type III (EDSIII; EDS3) (EDS, hypermobility type)
  Ehlers-Danlos syndrome, type IV, autosomal dominant (EDS IV; EDS4) (EDS, vascular type)
COL4A1 Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps (HANAC)
  Brain small vessel disease with Axenfeld-Rieger anomaly
  Brain small vessel disease with hemorrhage (BSVDH) (infantile hemiparesis)
  Porencephaly, familial (PCEPH)
COL4A2 Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps (HANAC)
  Brain small vessel disease with Axenfeld-Rieger anomaly
  Brain small vessel disease with hemorrhage (BSVDH) (infantile hemiparesis)
COL4A3 Alport syndrome, autosomal dominant (APSAD)
  Alport syndrome, autosomal recessive (APSAR)
  Hematuria, benign familial (BFH) (Thin-basement-mambrane nephropathy)
COL4A4 Alport syndrome, autosomal recessive
  Hematuria, benign familial (BFH) (=Thin-basement-membrane nephropathy)
COL4A5+del Alport syndrome X-linked (APSX)
  Leiomatosis, diffuse, with Alport syndrome (DL-ATS)
COL5A1+del+dup Ehlers-Danlos syndrome, type I (EDS I) (EDS1) (EDS, severe classic type)
  Ehlers-Danlos syndrome, type II (EDS II) (EDS2) (EDS, mild classic type)
COL5A2 Ehlers-Danlos syndrome, type I (EDS I) (EDS1) (EDS, severe classic type)
COL9A1 epiphyseal dysplasia, multiple, type 6 (EDM6)
  Stickler Syndrome, autosomal recessive, COL9A1-related (COL9A1ARSTL)
COL9A2 Epiphyseal dysplasia, multiple, 2 (EDM2)
  Intervertebral disc disease (IDD), susceptibility to
  Stickler syndrome, type V (STL5)
COL9A3 Epiphyseal dysplasia, multiple, 3 (EDM3)
  Epiphyseal dysplasia, multiple, with myopathy
  Hearing loss, non-syndromic
  Intervertebral disc disease, susceptibility to
  Pseudoachondroplasia (PSACH)
COL10A1 Metaphyseal chondrodysplasia, Schmid type (MCDS)
COL11A1+del Fibrochondrogenesis
  Lumbar disc herniation, susceptibility to
  Marshall syndrome (MARSHS)
  Stickler syndrome, type II (STL2)
  Stickler syndrome, vitreous type 2
COL11A2 deafness, autosomal dominant type 13 (DFNA13)
  deafness, autosomal recessive type 53 (DFNB53)
  OSMED, heterozygous (WZS)
  Otospondylomegaepiphyseal dysplasia (OSMED)
  Stickler syndrome, type III (STL3)
  Weissenbacher-Zweymueller syndrome (WZS)
COMP+del Epiphyseal dysplasia, Fairbank type (EDMF)
  Epiphyseal dysplasia, multiple 1 (EDM1)
  Epiphyseal dysplasia, Ribbing type (EDMR)
  Pseudoachondroplasia (PSACH)
CPT2 CPT deficiency, hepatic, type II (Carnitine palmitoyltransferase II deficiency, infantile)
  CPT II deficiency, lethal neonatal (Carnitine palmitoyltransferase 2 deficiency, lethal neonatal)
  CPT II deficiency, myopathic (Carnitine palmitoyltransferase 2 deficiency, late-onset)
  Encephalopathy, acute, infection-induced, 4, susceptibility to (IIAE4)
CPX (offiz. EBP) Chondrodysplasia punctata, X-linked dominant, 2 (CDPX2) (Conradi-Hunermann-Happle syndrome)
CREB3L2 chondrocyte differentiation, key role in
  epiphyseal cartilage, key role in formation of
  Fibromyxoid sarcoma, low grade (LGFMS)
  transcription of unfolded protein response target genes, regulation of
CREBBP+del 16p13.3 deletion syndrome
  leukemia, acute myeloid
  Rubinstein-Taybi syndrome type 1 (RSTS1)
CRELD1 Atrioventricular septal defect, partial, with heterotaxy syndrome
  Atrioventricular septal defect, susceptibility to, 2 (AVSD2)
CRTAP Osteogenesis imperfecta, type IIB (OI2B)
  Osteogenesis imperfecta, type VII (OI7)
CSGALNACT1+del role in enchondral ossification and aggrecan metabolism; required for normal cartilage development
CTC1 Cerebroretinal microangiopathy with calcifications and cysts (CRMCC) (Coats plus syndrome)
CTNNB1 Adenomas, salivary gland pleomorphic (PSA)
  Colorectal cancer (CRC)
  Hepatoblastoma
  Hepatocellular carcinoma (HCC)
  Medulloblastoma (MDB)
  Mesothelioma, malignant; susceptibility to (MESOM)
  Ovarian cancer (OC)
  Pilomatricoma (PTR)
CTSK Pycnodysostosis (PKND)
CUL7 3-M syndrome 1 (3M1)
CX26 (offiz. GJB2) Bart-Pumphrey syndrome (BPS)
  Deafness, autosomal dominant 3A (DFNA3A)
  Deafness, autosomal recessive 1A (DFNB1A)
  Hystrix-like ichthyosis with deafness (HID syndrome)
  Keratitis-ichthyosis-deafness syndrome (KID syndrome)
  Keratoderma, palmoplantar, with deafness (PPKDFN)
  Vohwinkel syndrome (VS)
CXCR4 Myelokathexis, isolated
  WHIM (Warts, hypogammaglobulinemia, infections, and myelokathexis) syndrome
CYP7B1 Bile acid synthesis defect, congenital, 3 (CBAS3)
  Spastic paraplegia 5A, autosomal recessive (SPG5A)
Gen Krankheit
D2HGDH+del D-2-Hydroxyglutaric aciduria 1 (D2HGA) (D2HGA1)
DBP+del (offiz. HSD17B4) D-bifunctional protein deficiency (DBPD)
  Perrault syndrome (PRS)
DCLRE1C(=ARTEMIS)+del Omenn syndrome (Reticuloendotheliosis, familial, with eosinophilia)
  severe combined immunodeficiency Athabaskan-type (SCIDA)
  severe combined immunodeficiency with sensitivity to ionizing radiation (RS-SCID)
DHCR7+del Smith-Lemli-Opitz syndrome (SLOS)
DKC1 Dyskeratosis congenita, X-linked
DLD (=LAD) Dihydrolipoamide dehydrogenase deficiency (DLDD) (Maple syrup urine disease, type III)
DLL3 Spondylocostal dysostosis, autosomal recessive, 1 (SCDO1)
DNASE2 apoptosis, major role during
  erythropoiesis, major role during
DNMT3B Immunodeficiency-centromeric instability-facial anomalies syndrome (ICF1)
DTDST (offiziell SLC26A2) Achondrogenesis Ib (ACG1B)
  Atelosteogenesis II (AO2)
  De la Chapelle dysplasia (DLCD)
  Diastrophic dysplasia (DTD)
  Diastrophic dysplasia, broad bone-platyspondylic variant (DTDB)
  Epiphyseal dysplasia, multiple, 4 (EDM4)
DYM+dup Dyggve-Melchior-Clausen disease (DMC)
  Smith-McCort dysplasia (SMC)
DYNC2H1 Asphyxiating thoracic dystrophy 3 (ATD3)
  Short rib-polydactyly syndrome, type II, digenic (SRPS2)
  Short rib-polydactyly syndrome, type III (SRPS3) (Verma-Naumoff syndrome)
EBP (=CPX) Chondrodysplasia punctata, X-linked dominant, 2 (CDPX2) (Conradi-Hunermann-Happle syndrome)
ECSIT Complex I deficiency, mitochondrial
EDN3 Central hypoventilation syndrome, congenital (CCHS) (Ondine curse)
  Hirschsprung disease, susceptibility to, 4 (HSCR4) (aganglionic megacolon (MGC))
  Waardenburg syndrome, type 4B (WS4B) (WS4B with Hirschsprung disease)
EFNB1+del+dup Craniofrontonasal syndrome (CFNS)
ELN+del Cutis laxa, autosomal dominant, 1 (ADCL1)
  Supravalvar aortic stenosis (SVAS) (SVAS, Eisenberg type)
ELNdel Williams-Beuren syndrome (WBS)
EP300+del Colorectal cancer (CRC)
  Rubinstein-Taybi syndrome 2 (RSTS2)
ERCC3 (=XPB) Ichthyosiform erythroderma with hair abnormality and mental and growth retardation
  Trichothiodystrophy, photosensitive (TTDP)
  Xeroderma pigmentosum, group B (XBP)
  Xeroderma pigmentosum/Cockayne syndrome (XPB/CS)
ETFA+del Glutaric acidemia IIA (ETFA deficiency)
  Multiple acyl-CoA dehydrogenase deficiency (MADD) (Glutaric acidemia IIA)
ETFB Glutaric acidemia IIB (ETFB deficiency)
  Multiple acyl-CoA dehydrogenase deficiency (MADD) (Glutaric acidemia IIB)
ETFDH Glutaric acidemia IIC (GA2C) (ETFDH deficiency)
  Multiple acyl-CoA dehydrogenase deficiency (MADD) (Glutaric acidemia IIC)
EVC (=EVC1)+del Ellis-van Creveld syndrome (EVC) (chondroectodermal dysplasia)
  Weyers acrodental dysostosis (WAD) (Curry-Hall syndrome)
EVC2+del Ellis-van Creveld syndrome (EVC) (chondroectodermal dysplasia)
  Weyers acrodental dysostosis (WAD) (Curry-Hall syndrome)
EXT1+del (=TRPS2) Chondrosarcoma (CHDSA)
  Exostoses, multiple, type 1 (EXT1) (Osteochondromas, multiple)
  Langer-Giedion syndrome (LGS) (Trichorhinophalangeal syndrome, type II (TRPS2))
EXT2+del Chondrosarcoma (CHDSA)
  Exostoses, multiple, type 2 (EXT 2) (= Osteochondromas, multiple)
  Potocki-Shaffer syndrome (PSS) (11p11.2 Deletion Syndrome)
EZH2 Weaver syndrome (WES) (Weaver-Smith syndrome (WSS))
FAM110B tumor progression, may be involved in
FBN1+del Acromicric dysplasia (ACMICD)
  Aortic aneurysm, ascending, and dissection
  Ectopia lentis, familial (EL)
  Geleophysic dysplasia 2 (GPHYSD2)
  Marfan syndrome (MFS) (Marfan syndrome, type 1 (MFS1))
  MASS syndrome (overlap connective tissue disease (OCTD))
  Stiff skin syndrome (SSKS)
  Weill-Marchesani syndrome 2 (WMS2)
FBN2 Arthrogryposis, distal, type 9 (DA9) (Beals syndrome)
FBXW8 3-M syndrome, candidate
FGD1+del Aarskog-Scott syndrome (AAS) (Faciogenital dysplasia (FGDY))
  Mental retardation, X-linked syndromic 16 (MRXS16)
FGF8 Hypogonadotropic hypogonadism
  Kallmann syndrome 6 (KAL6)
FGF9 Multiple synostoses syndrome 3 (SYNS3)
FGF10+del Aplasia of lacrimal and salivary glands (ALSG)
  LADD (Lacrimoauriculodentodigital) syndrome (LADDS) (Levy-Hollister syndrome)
FGF17 embryonic development, important role in the regulation of; embryonic brain, signaling molecule in the induction and patterning of the
FGF23 Hypophosphatemic rickets, autosomal dominant (ADHR) (Vitamin D-resistant rickets, AD)
  Osteomalacia, tumor-induced
  Tumoral calcinosis, hyperphosphatemic, familial HFTC) (Morbus Teutschlaender)
FGFR1+del (=KAL2) Hypogonadotropic hypogonadism
  Jackson-Weiss syndrome (JWS) (craniosynostosis, midfacial hypoplasia, and foot anomalies)
  Kallmann syndrome 2 (KAL2)
  Osteoglophonic dysplasia (OGD)
  Pfeiffer syndrome (PS) (Acrocephalosyndactyly, type V ( ACS5))
  Trigonocephaly, nonsyndromic (TRICEPH) (Craniosynostosis, metopic)
FGFR2+del Antley-Bixler syndrome, type 2 (ABS2) (ABS without genital anomalies or disordered steroidogenesis)
  Apert syndrome (APRS) (Acrocephalosyndactyly type 1 (ACS1))
  Beare-Stevenson cutis gyrata syndrome (BSTVS)
  Craniofacial-skeletal-dermatologic dysplasia
  Craniosynostosis, nonspecific
  Crouzon syndrome (CS) (Craniofacial dysostosis type I (CFD1))
  Gastric cancer, somatic
  Jackson-Weiss syndrome (JWS) (craniosynostosis, midfacial hypoplasia, and foot anomalies)
  LADD (Lacrimoauriculodentodigital) syndrome (LADDS) (Levy-Hollister syndrome)
  Pfeiffer syndrome (PS) (Acrocephalosyndactyly, type V ( ACS5))
  Saethre-Chotzen syndrome (SCS) (Acrocephalodyndactyly, type III ( ACS3))
  Scaphocephaly and Axenfeld-Rieger anomaly
  Scaphocephaly, maxillary retrusion, and mental retardation
FGFR3 Achondroplasia (ACH)
  Bladder cancer, somatic (BLC)
  CATSHL (camptodactyly tall stature and hearing loss) syndrome
  Cervical cancer, somatic (CERCA)
  Crouzon syndrome with acanthosis nigricans
  Hypochondroplasia
  Keratosis, seborrheic, somatic
  LADD (Lacrimoauriculodentodigital) syndrome (LADDS) (Levy-Hollister syndrome)
  Muenke syndrome
  multiple myeloma (MM)
  Nevus, keratinocytic, nonepidermolytic (KNEN)
  Spermatocytic seminoma, somatic
  Thanatophoric dysplasia, type I (TD1)
  Thanatophoric dysplasia, type II
FKBP10 Osteogenesis imperfecta, type XI (OI11)
FKBP14 Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss (EDSKMH)
FLI1 Ewing sarcoma (ES)
  Hemangiomatosis
  Leukemia, acute lymphoblastic
  Paris-Trousseau thrombocytopenia (TCPT)
FLNB Atelosteogenesis, type I (AOI) (Spondylohumerofemoral hypoplasia)
  Atelosteogenesis, type III (AOIII) (AO3)
  Boomerang dysplasia
  Larsen syndrome (LRS), autosomal dominant
  Spondylocarpotarsal synostosis syndrome (SCT)
FOXC2+del Lymphedema, hereditary, type 2 (LMPH2) (Meige disease)
  Lymphedema-distichiasis syndrome (LYDS)
  Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus
  Yellow nail syndrome (YNS) (Lymphedema and yellow nails (LYYN))
FOXG1+del Rett syndrome, congenital variant (RTTCV)
FOXI1 Enlarged vestibular aqueduct (EVA)
  Pendred syndrome (PDS)
FOXL2+del+dup Blepharophimosis, epicanthus inversus, and ptosis, type 1 (BPES1)
  Blepharophimosis, epicanthus inversus, and ptosis, type 2 (BPES2)
  Premature ovarian failure 3
Gen Krankheit
D2HGDH+del D-2-Hydroxyglutaric aciduria 1 (D2HGA) (D2HGA1)
DBP+del (offiz. HSD17B4) D-bifunctional protein deficiency (DBPD)
  Perrault syndrome (PRS)
DCLRE1C(=ARTEMIS)+del Omenn syndrome (Reticuloendotheliosis, familial, with eosinophilia)
  severe combined immunodeficiency Athabaskan-type (SCIDA)
  severe combined immunodeficiency with sensitivity to ionizing radiation (RS-SCID)
DHCR7+del Smith-Lemli-Opitz syndrome (SLOS)
DKC1 Dyskeratosis congenita, X-linked
DLD (=LAD) Dihydrolipoamide dehydrogenase deficiency (DLDD) (Maple syrup urine disease, type III)
DLL3 Spondylocostal dysostosis, autosomal recessive, 1 (SCDO1)
DNASE2 apoptosis, major role during
  erythropoiesis, major role during
DNMT3B Immunodeficiency-centromeric instability-facial anomalies syndrome (ICF1)
DTDST (offiziell SLC26A2) Achondrogenesis Ib (ACG1B)
  Atelosteogenesis II (AO2)
  De la Chapelle dysplasia (DLCD)
  Diastrophic dysplasia (DTD)
  Diastrophic dysplasia, broad bone-platyspondylic variant (DTDB)
  Epiphyseal dysplasia, multiple, 4 (EDM4)
DYM+dup Dyggve-Melchior-Clausen disease (DMC)
  Smith-McCort dysplasia (SMC)
DYNC2H1 Asphyxiating thoracic dystrophy 3 (ATD3)
  Short rib-polydactyly syndrome, type II, digenic (SRPS2)
  Short rib-polydactyly syndrome, type III (SRPS3) (Verma-Naumoff syndrome)
EBP (=CPX) Chondrodysplasia punctata, X-linked dominant, 2 (CDPX2) (Conradi-Hunermann-Happle syndrome)
ECSIT Complex I deficiency, mitochondrial
EDN3 Central hypoventilation syndrome, congenital (CCHS) (Ondine curse)
  Hirschsprung disease, susceptibility to, 4 (HSCR4) (aganglionic megacolon (MGC))
  Waardenburg syndrome, type 4B (WS4B) (WS4B with Hirschsprung disease)
EFNB1+del+dup Craniofrontonasal syndrome (CFNS)
ELN+del Cutis laxa, autosomal dominant, 1 (ADCL1)
  Supravalvar aortic stenosis (SVAS) (SVAS, Eisenberg type)
ELNdel Williams-Beuren syndrome (WBS)
EP300+del Colorectal cancer (CRC)
  Rubinstein-Taybi syndrome 2 (RSTS2)
ERCC3 (=XPB) Ichthyosiform erythroderma with hair abnormality and mental and growth retardation
  Trichothiodystrophy, photosensitive (TTDP)
  Xeroderma pigmentosum, group B (XBP)
  Xeroderma pigmentosum/Cockayne syndrome (XPB/CS)
ETFA+del Glutaric acidemia IIA (ETFA deficiency)
  Multiple acyl-CoA dehydrogenase deficiency (MADD) (Glutaric acidemia IIA)
ETFB Glutaric acidemia IIB (ETFB deficiency)
  Multiple acyl-CoA dehydrogenase deficiency (MADD) (Glutaric acidemia IIB)
ETFDH Glutaric acidemia IIC (GA2C) (ETFDH deficiency)
  Multiple acyl-CoA dehydrogenase deficiency (MADD) (Glutaric acidemia IIC)
EVC (=EVC1)+del Ellis-van Creveld syndrome (EVC) (chondroectodermal dysplasia)
  Weyers acrodental dysostosis (WAD) (Curry-Hall syndrome)
EVC2+del Ellis-van Creveld syndrome (EVC) (chondroectodermal dysplasia)
  Weyers acrodental dysostosis (WAD) (Curry-Hall syndrome)
EXT1+del (=TRPS2) Chondrosarcoma (CHDSA)
  Exostoses, multiple, type 1 (EXT1) (Osteochondromas, multiple)
  Langer-Giedion syndrome (LGS) (Trichorhinophalangeal syndrome, type II (TRPS2))
EXT2+del Chondrosarcoma (CHDSA)
  Exostoses, multiple, type 2 (EXT 2) (= Osteochondromas, multiple)
  Potocki-Shaffer syndrome (PSS) (11p11.2 Deletion Syndrome)
EZH2 Weaver syndrome (WES) (Weaver-Smith syndrome (WSS))
FAM110B tumor progression, may be involved in
FBN1+del Acromicric dysplasia (ACMICD)
  Aortic aneurysm, ascending, and dissection
  Ectopia lentis, familial (EL)
  Geleophysic dysplasia 2 (GPHYSD2)
  Marfan syndrome (MFS) (Marfan syndrome, type 1 (MFS1))
  MASS syndrome (overlap connective tissue disease (OCTD))
  Stiff skin syndrome (SSKS)
  Weill-Marchesani syndrome 2 (WMS2)
FBN2 Arthrogryposis, distal, type 9 (DA9) (Beals syndrome)
FBXW8 3-M syndrome, candidate
FGD1+del Aarskog-Scott syndrome (AAS) (Faciogenital dysplasia (FGDY))
  Mental retardation, X-linked syndromic 16 (MRXS16)
FGF8 Hypogonadotropic hypogonadism
  Kallmann syndrome 6 (KAL6)
FGF9 Multiple synostoses syndrome 3 (SYNS3)
FGF10+del Aplasia of lacrimal and salivary glands (ALSG)
  LADD (Lacrimoauriculodentodigital) syndrome (LADDS) (Levy-Hollister syndrome)
FGF17 embryonic development, important role in the regulation of; embryonic brain, signaling molecule in the induction and patterning of the
FGF23 Hypophosphatemic rickets, autosomal dominant (ADHR) (Vitamin D-resistant rickets, AD)
  Osteomalacia, tumor-induced
  Tumoral calcinosis, hyperphosphatemic, familial HFTC) (Morbus Teutschlaender)
FGFR1+del (=KAL2) Hypogonadotropic hypogonadism
  Jackson-Weiss syndrome (JWS) (craniosynostosis, midfacial hypoplasia, and foot anomalies)
  Kallmann syndrome 2 (KAL2)
  Osteoglophonic dysplasia (OGD)
  Pfeiffer syndrome (PS) (Acrocephalosyndactyly, type V ( ACS5))
  Trigonocephaly, nonsyndromic (TRICEPH) (Craniosynostosis, metopic)
FGFR2+del Antley-Bixler syndrome, type 2 (ABS2) (ABS without genital anomalies or disordered steroidogenesis)
  Apert syndrome (APRS) (Acrocephalosyndactyly type 1 (ACS1))
  Beare-Stevenson cutis gyrata syndrome (BSTVS)
  Craniofacial-skeletal-dermatologic dysplasia
  Craniosynostosis, nonspecific
  Crouzon syndrome (CS) (Craniofacial dysostosis type I (CFD1))
  Gastric cancer, somatic
  Jackson-Weiss syndrome (JWS) (craniosynostosis, midfacial hypoplasia, and foot anomalies)
  LADD (Lacrimoauriculodentodigital) syndrome (LADDS) (Levy-Hollister syndrome)
  Pfeiffer syndrome (PS) (Acrocephalosyndactyly, type V ( ACS5))
  Saethre-Chotzen syndrome (SCS) (Acrocephalodyndactyly, type III ( ACS3))
  Scaphocephaly and Axenfeld-Rieger anomaly
  Scaphocephaly, maxillary retrusion, and mental retardation
FGFR3 Achondroplasia (ACH)
  Bladder cancer, somatic (BLC)
  CATSHL (camptodactyly tall stature and hearing loss) syndrome
  Cervical cancer, somatic (CERCA)
  Crouzon syndrome with acanthosis nigricans
  Hypochondroplasia
  Keratosis, seborrheic, somatic
  LADD (Lacrimoauriculodentodigital) syndrome (LADDS) (Levy-Hollister syndrome)
  Muenke syndrome
  multiple myeloma (MM)
  Nevus, keratinocytic, nonepidermolytic (KNEN)
  Spermatocytic seminoma, somatic
  Thanatophoric dysplasia, type I (TD1)
  Thanatophoric dysplasia, type II
FKBP10 Osteogenesis imperfecta, type XI (OI11)
FKBP14 Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss (EDSKMH)
FLI1 Ewing sarcoma (ES)
  Hemangiomatosis
  Leukemia, acute lymphoblastic
  Paris-Trousseau thrombocytopenia (TCPT)
FLNB Atelosteogenesis, type I (AOI) (Spondylohumerofemoral hypoplasia)
  Atelosteogenesis, type III (AOIII) (AO3)
  Boomerang dysplasia
  Larsen syndrome (LRS), autosomal dominant
  Spondylocarpotarsal synostosis syndrome (SCT)
FOXC2+del Lymphedema, hereditary, type 2 (LMPH2) (Meige disease)
  Lymphedema-distichiasis syndrome (LYDS)
  Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus
  Yellow nail syndrome (YNS) (Lymphedema and yellow nails (LYYN))
FOXG1+del Rett syndrome, congenital variant (RTTCV)
FOXI1 Enlarged vestibular aqueduct (EVA)
  Pendred syndrome (PDS)
FOXL2+del+dup Blepharophimosis, epicanthus inversus, and ptosis, type 1 (BPES1)
  Blepharophimosis, epicanthus inversus, and ptosis, type 2 (BPES2)
  Premature ovarian failure 3
Gen Krankheit
IDH1 Glioma (GLM)
  Leukemia, acute myeloid (AML)
  Maffucci syndrome (Enchondromatosis, multiple, Maffucci type)
  Metaphyseal chondromatosis with urinary excretion of D-2-hydroxy-glutaric acid (MC-HGA)
  Ollier disease (Enchondromatosis, multiple, Ollier type)
  Osteoarthritis, familial early-onset (FOA), susceptibility to
IDH2 D-2-hydroxyglutaric aciduria type 2 (D2HGA2)
  Maffucci syndrome (= Enchondromatosis, multiple, Maffucci type)
  Metaphyseal chondromatosis with urinary excretion of D-2-hydroxy-glutaric acid (MC-HGA)
  Ollier disease (Enchondromatosis, multiple, Ollier type)
IFITM5 Osteogenesis imperfecta, type 5 (OI5)
IFT20 ciliary assembly, function in
IFT25 (offiz. HSPB11) apoptotic cell death, role in prevention of
IFT27 protein is ras-related, but the function is unknown
IFT43 Cranioectodermal dysplasia 3 (CED3)
IFT80 Asphyxiating thoracic dystrophy 2 (ATD2) (Jeune syndrome 2)
IFT122 Cranioectodermal dysplasia type 1 (CED1)
IGFALS Acid-labile subunit, deficiency of (ALSD)
IHH Acrocapitofemoral dysplasia (ACFD)
  Brachydactyly, type A1 (BDA1)
IKBKG (=NEMO)+del Atypical mycobacteriosis, familial (AMCBX1)
  Ectodermal dysplasia, anhidrotic, with immune deficiency (EDA-ID)
  Ectodermal dysplasia, hypohidrotic, with immune deficiency (HED-ID)
  Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency
  Immunodeficiency, isolated
  Incontinentia pigmenti, type II, formerly
  Invasive pneumococcal disease, recurrent isolated, 2 (IPD2)
IMPAD1 chondrodysplasia with joint dislocations, GPAPP type (CDP-GPAPP)
INI1 (offiz. SMARCB1)+del Rhabdoid predisposition syndrome 1 (RPS1)
  Rhabdoid tumor (RDT) (Teratoid tumor, atypical)
  Schwannomatosis (Neurofibromatosis type 3 (NF3))
IRF6+del Orofacial cleft 6, susceptibility to (OFC6)
  Popliteal pterygium syndrome 1 (PPS)
  van der Woude syndrome 1 (VWS1) (Cleft lip and/or palate with mucous cysts of lower lip)
IVD Isovaleric acidemia (IVA)
JAG1+del+dup Alagille syndrome, type 1 (ALGS1)
  Deafness, congenital heart defects, and posterior embryotoxon
  Tetralogy of Fallot (TOF)
JAK2 Budd-Chiari syndrome, susceptibility to (BDCHS)
  Erythrocytosis, somatic
  Leukemia, acute myelogenous (AML) (= Leukemia, acute myeloid)
  Myelofibrosis, somatic
  Polycythemia vera (PV) (= Polycythemia rubra vera (PRV))
  Thrombocythemia 3 (THCYT3) (= Thrombocytosis)
KAL1+del Kallmann syndrome 1 (KAL1) (Hypogonadotropic hypogonadism and anosmia (HHA))
KAL2+del (offiz. FGFR1) Hypogonadotropic hypogonadism
  Jackson-Weiss syndrome (JWS) (craniosynostosis, midfacial hypoplasia, and foot anomalies)
  Kallmann syndrome 2 (KAL2)
  Osteoglophonic dysplasia (OGD)
  Pfeiffer syndrome (PS) (Acrocephalodyndactyly, type V ( ACS5))
  Trigonocephaly, nonsyndromic (TRICEPH) (Craniosynostosis, metopic)
KAL3 (offiz. PROKR2) Kallmann syndrome 3
KAL4 (offiz. PROK2) Hypogonadism, hypogonadotropic
  Kallmann syndrome 4
KAL5 (off. CHD7)+del CHARGE syndrome
  hypogonadotropic hypogonadism, idiopathic (IHH)
  idiopathic scoliosis 3, susceptibility to (IS3)
  Kallmann syndrome 5 (KAL5)
KCNJ11 Diabetes mellitus, permanent neonatal (PNDM) (Diabetes mellitus, permanent, of infancy (PDMI)
  Diabetes mellitus, permanent neonatal, with neurologic features
  Diabetes mellitus, transient neonatal, 3 (TNDM3)
  Diabetes mellitus, type 2, susceptibility to (= noninsulin-dependent diabetes mellitus (NIDDM), susceptibility to)
  Hyperinsulinemic hypoglycemia, familial, 2 (HHF2)
KCTD1 Scalp-ear-nipple syndrome (SENS) (Finlay-Marks syndrome)
KIF7 Acrocallosal syndrome
  Hydrolethalus syndrome 2
  Joubert syndrome 12
KIF22 Spondyloepimetaphyseal dysplasia with joint laxity, type 2 (SEMDJL2)
KISS1R Hypogonadotropic hypogonadism
  Precocious puberty, central
KIT+del Gastrointestinal stromal tumor, familial (GIST)
  Leukemia, acute myeloid (AML)
  Mast cell disease (= Mastocytosis)
  Testicular germ cell tumors (TGCT) (Male germ cell tumor (MGCT))
  Piebald trait (PBT) (Piebaldism)
  Urticaria pigmentosa
KRAS Bladder cancer, somatic
  Breast cancer, somatic
  Cardiofaciocutaneous syndrome 2 (CFC2)
  Gastric cancer, somatic
  Leukemia, acute myeloid (AML)
  Lung cancer, somatic
  Noonan syndrome 3 (NS3)
  Pancreatic cancer, somatic
  Schimmelpfennig-Feuerstein-Mims syndrome (SFM), somatic mosaic
KRT14 Dermatopathia pigmentosa reticularis (DPR)
  Epidermolysis bullosa simplex Dowling-Meara type (EBS-DM)
  Epidermolysis bullosa simplex Koebner type (EBS-K)
  Epidermolysis bullosa simplex Weber-Cockayne type (EBS-WC)
  Epidermolysis bullosa simplex, autosomal recessive (AREBS)
  Naegeli-Franceschetti-Jadassohn syndrome (NFJS) (Naegeli syndrome)
Gen Krankheit
L2HGDH+del L-2-Hydroxyglutaric aciduria
LAD (offiz. DLD) Dihydrolipoamide dehydrogenase deficiency (DLDD) (E3 deficiency) (Maple syrup urine disease, type III)
LAMP2+del Danon disease (DAND) (= Glycogen storage disease type 2B (GSD2B), formerly)
LAMR1 (offiz. RPSA) Asplenia, isolated congenital
LEPRE1+del Osteogenesis imperfecta, type 8 (OI8)
LFNG Spondylocostal dysostosis, type 3 (SCDO3)
LHX3+del Pituitary hormone deficiency, combined, 3 (CPHD3)
LHX4+del Leukemia, acute lymphoblastic (ALL)
  Pituitary hormone deficiency, combined, 4 (CPHD4)
LIFR Adenomas, salivary gland pleomorphic (PSA; SGPA)
  Stueve-Wiedemann syndrome (SWS) (Schwartz-Jampel syndrome, type 2 (SJS2))
LMNA+del Cardiomyopathy, dilated, 1A (CMD1A)
  Charcot-Marie-Tooth disease, axonal, type 2B1 (CMT2B1)
  Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2)
  Emery-Dreifuss muscular dystrophy, atypical, autosomal recessive
  Heart-hand syndrome, Slovenian type
  Hutchinson-Gilford progeria syndrome (HGPS) (= Progeria)
  Lipodystrophy, familial partial, type 2 (FPLD2) (Dunnigan type)
  Malouf syndrome (Cardiomyopathy, dilated, with hypergonadotropic hypogonadism)
  Mandibuloacral dysplasia with type A lipodystrophy (MADA) (Craniomandibular dermatodysostosis)
  Mandibuloacral dysplasia with type A lipodystrophy, atypical
  Muscular dystrophy, congenital, LMNA-related (MDCL)
  Muscular dystrophy, limb-girdle, type 1B (LGMD1B)
  Progeria syndrome, childhood onset
  Restrictive dermopathy, lethal (Tight skin contracture syndrome, lethal)
LMNB2 Lipodystrophy, partial, acquired, susceptibility to (APLD) (Barraquer-Simons syndrome)
LMX1B+del Nail-patella syndrome (NPS) (Onychoosteodysplasia)
  Nail-patella syndrome with primary open angle glaucoma (POAG)
LNP (offiz. NUSAP1) spindle microtubule organization, role in
LPIN2 Majeed syndrome (MAJEEDS) (chronic recurrent multifocal osteomyelitis (CRMO), congenital dyserythropoietic anemia (CDA), and neutrophilic dermatosis (Sweet syndrome))
LPL+del+dup Hyperlipidemia, familial combined (FCHL)
  Hyperlipoproteinemia, type I (Lipoprotein lipase (LPL) deficiency)
MAFB Multicentric carpotarsal osteolysis syndrome (MCTO)
MAP2K1 (=MEK1) Cardiofaciocutaneous syndrome 3 (CFC3)
MAP2K2 (=MEK2) Cardiofaciocutaneous syndrome 4 (CFC4)
MAT1A Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency
  Methionine adenosyltransferase (MAT) deficiency, autosomal recessive
MATN3 Epiphyseal dysplasia, multiple, 5 (EDM5)
  Osteoarthritis, susceptibility to, 2 (OS2)
  Spondyloepimetaphyseal dysplasia (SEMD)
MBOAT1+del Brachydactyly-syndactyly syndrome, novel
MC4R Obesity, autosomal dominant (OBESITY)
MCAD (offiz. ACADM)+del Acyl-CoA dehydrogenase medium chain (ACADM) deficiency = medium chain Acyl-CoA dehydrogenase deficiency (MCAD)
MECP2+del+dup Angelman syndrome-like
  Autism susceptibility, X-linked 3 (AUTSX3)
  Encephalopathy, neonatal severe
  Mental retardation, X-linked syndromic, Lubs type (MRXSL) (MECP2 duplication syndrome)
  Mental retardation, X-linked, syndromic 13 (MRXS13)
  Rett syndrome (RTT; RTS)
  Rett syndrome, preserved speech variant (RTT-PSV) (Rett syndome, atypical)
MED12 Lujan-Fryns syndrome (Mental retardation, X-linked, with marfanoid habitus)
  Ohdo syndrome, X-linked (OHDOX) (Blepharophimosis-mental retardation syndrome, Maat-Kievit-Brunner type)
  Opitz-Kaveggia syndrome (OKS) (FG syndrome 1 (FGS1))
MEF2C+del Bone development and chondrocyte hypertrophy, control of
  Chondrocyte hypertrophy and bone development, control of
  Mental retardation, autosomal dominant 20 (MRD20)
  Chromosome 5q14.3 deletion syndrome
MEK1 (offiz. MAP2K1) Cardiofaciocutaneous syndrome 3 (CFC3)
MEK2 (offiz. MAP2K2) Cardiofaciocutaneous syndrome 4 (CFC4)
MESP2 Spondylocostal dysostosis type 2 (SCDO2)
MID1+del+dup Opitz GBBB syndrome, X-linked (Opitz syndrome (OS))
MLH1+del Cafe-au-lait spots with glioma or leukemia
  Colorectal cancer, hereditary nonpolyposis, type 2 (HNPCC2)
  Endometrial cancer (ENDMC), susceptibility to
  Lobular carcinoma in situ (LCIS)
  Mismatch repair cancer syndrome (MMRCS) (Turcot syndrome) (Brain tumor-polyposis syndrome 1)
  Muir-Torre syndrome (MRTES)
MLH3 Colon cancer, hereditary nonpolyposis, type 7 (HNPCC7)
  Colorectal cancer, somatic (CRC)
  Endometrial cancer
MLP (=C-MLP) Myelofibrosis with myeloid metaplasia, somatic (MMM)
  Thrombocythemia 2 (THCYT2)
  Thrombocytopenia, congenital amegakaryocytic (CAMT)
MMACHC Methylmalonic aciduria and homocystinuria, cblC type
MMP2 Multicentric osteolysis, nodulosis, and arthropathy (MONA) (Nodulosis-arthropathy-osteolysis syndrome)
MMP9 Lumbar disc herniation (LDH), susceptibility to
  Metaphyseal anadysplasia type 2 (MANDP2)
MMP13 Metaphyseal anadysplasia type 1 (MANDP1)
  Spondyloepimetaphyseal dysplasia, Missouri type (SEMD-MO)
MMP14 Torg-Winchester syndrome (Nodulosis-arthropathy-osteolysis (NAO) syndrome)
  Winchester syndrome (WNCHRS)
MOPD2 (offiz. PCNT)+del Microcephalic osteodysplastic primordial dwarfism, type II (MOPD2) (Osteodysplastic primordial dwarfism, type II)
  Seckel syndrome
MSH2+del Cafe-au-lait spots, multiple, with leukemia (DD zu MMRCS)
  Colorectal cancer, hereditary nonpolyposis, type 1 (HNPCC1) (Lynch syndome 1)
  Colorectal cancer, hereditary nonpolyposis, type 8 (HNPCC8)
  Endometrial cancer (ENDMC), susceptibility to
  Mismatch repair cancer syndrome (MMRCS) (Turcot syndrome (Brain tumor-polyposis syndrome 1)
  Muir-Torre syndrome (MRTES)
  Neurofibromatosis, type I, with leukemia (DD zu MMRCS)
MSH6+del Colorectal cancer, hereditary nonpolyposis, type 5 (HNPCC5)
  Endometrial cancer, familial (ENDMC)
  Mismatch repair cancer syndrome (MMRCS) (Turcot syndrome (Brain tumor-polyposis syndrome 1)
  Ovarian cancer, endometrioid type
MSX2+del Craniosynostosis, type 2 (CRS2) (Craniosynostosis Boston-type (CSB))
  Parietal foramina 1 (PFM1) (Cranium bifidum occultum)
  Parietal foramina with cleidocranial dysplasia (PFMCCD) (Cleidocranial dysplasia with parietal foramina)
MYH3 Arthrogryposis, distal, type 2A (DA2A) (Freeman-Sheldon syndrome (FSS))
  Arthrogryposis, distal, type 2B (DA2B) (Sheldon-Hall syndrome (SHS)) )Arthrogryposis multiplex congenita, distal, type 2B (AMCD2B))
MYH11+dup Aortic aneurysm, familial thoracic 4 (AAT4)
MYLK Aortic aneurysm, familial thoracic 7 (AAT7)
MYO6 Deafness, autosomal dominant 22 (DFNA22)
  Deafness, autosomal dominant 22 (DFNA22), with hypertrophic cardiomyopathy
  Deafness, autosomal recessive 37 (DFNB37)
Gen Krankheit
NALP3 (offiz. NLRP3) CINCA (chronic infantile neurologic cutaneous and articular) syndrome
  Cold-induced autoinflammatory syndrome, familial (FCAS) (Cold urticaria, familial (FCU))
  Muckle-Wells syndrome (MWS) (Urticaria-deafness-amyloidosis (UDA) syndrome)
NALP12 (offiz. NLRP12) Cold autoinflammatory syndrome type 2, familial (FCAS2)
NELF Hypogonadotropic hypogonadism
  Kallmann syndrome
NEMO (offiz. IKBKG)+del Atypical mycobacteriosis, familial (AMCBX1)
  Ectodermal dysplasia, anhidrotic, with immune deficiency (EDA-ID)
  Ectodermal dysplasia, hypohidrotic, with immune deficiency (HED-ID)
  Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency
  Immunodeficiency, isolated
  Incontinentia pigmenti, type II, formerly (IP2, formerly)
  Invasive pneumococcal disease, recurrent isolated, 2 (IPD2)
NF1+del Leukemia, juvenile myelomonocytic (JMML)
  Melanoma, desmoplastic neurotrophic (DNM)
  Neurofibromatosis, familial spinal (FSNF)
  Neurofibromatosis, type 1 ( Von recklinghausen disease)
  Neurofibromatosis-Noonan syndrome (NFNS)
  Watson syndrome (= Pulmonic stenosis with cafe-au-lait spots)
NFIX Marshall-Smith syndrome (MSS)
  Sotos syndrome 2
NHP2 (=NOLA2) Dyskeratosis congenita, autosomal recessive 2 (DKCB2)
NIPBL+del Cornelia de Lange syndrome type 1 (CDLS1)
NKX2-5 Atrial septal defect 7, with or without AV conduction defects (ASD7)
  Conotruncal heart malformations, variable (CTHM)
  Hypoplastic left heart syndrome 2 (HLHS2)
  Hypothyroidism, congenital nongoitrous, 5 (CHNG5)
  Tetrology of Fallot (TOF)
  Truncus arteriosus communis (Persistent truncus arteriosus (PTA))
  Ventricular septal defect 3 (VSD3)
NLRP3 (=NALP3) CINCA (chronic infantile neurologic cutaneous and articular) syndrome (CINCA)
  Cold-induced autoinflammatory syndrome, familial (FCAS) (Cold urticaria, familial (FCU))
  Muckle-Wells syndrome (MWS) (Urticaria-deafness-amyloidosis (UDA) syndrome)
NLRP12 (=NALP12) Cold autoinflammatory syndrome type 2, familial (FCAS2)
NOG Brachydactyly, type B2 (BDB2)
  Multiple synostosis syndrome 1 (SYNS1) (Symphalangism-brachydactyly syndrome)
  Stapes ankylosis with broad thumb and toes (SABTS) (Teunissen-Cremers syndrome)
  Symphalangism, proximal (SYM1) (Cushing symphalangism)
  Synostosis of talus and calcaneus with short stature
  Tarsal-carpal coalition syndrome (TCC)
NOLA2 (offiz. NHP2) Dyskeratosis congenita, autosomal recessive 2 (DKCB2)
NOLA3 (offiz. NOP10) Dyskeratosis congenita, autosomal recessive 1 (DKCB1)
NOP10 (=NOLA3) Dyskeratosis congenita, autosomal recessive 1 (DKCB1)
NOTCH1+del Aortic valve disease 1 (AOVD1)
  Leukemia, T-cell acute lymphoblastic
NPR2 Acromesomelic dysplasia, Maroteaux type (AMDM)
  St. Helena dysplasia
NPR3 Hypertension, salt-resistant (?)
NR5A1 46,XY sex reversal 3 (SRXY3)
  Adrenocortical insufficiency
  Hypogonadotropic hypogonadism with or without anosmia (HH)
  Premature ovarian failure 7 (POF7)
  Spermatogenic failure 8 (SPGF8)
NRXN1+del Pitt-Hopkins-like syndrome 2 (PTHSL2)
  Chromosome 2p16.3 deletion syndrome
  Schizophrenia, susceptibility to, 17
NSD1 (=SOTOS)+del Beckwith-Wiedemann syndrome (BWS)
  Leukemia, acute myeloid (AML)
  Sotos syndrome (SOTOSS) (Cerebral gigantism)
NUSAP1 (=LNP) spindle microtubule organization, role in
OBSL1 3M syndrome 2 (3M2)
OPG (offiz. TNFRSF11B) Paget disease, juvenile (JPD) (Hyperphosphatasia, hereditary)
OTX2+del Microphthalmia, syndromic 5 (MCOPS5)
  Pituitary hormone deficiency, combined, 6 (CPHD6)
  Retinal dystrophy, early-onset, and pituitary dysfunction
Gen Krankheit
p63 (offiz. TP63) ADULT (Acro-dermato-ungual-lacrimal-tooth) syndrome
  Cervical cancer
  Colon cancer
  Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3)
  Hay-Wells syndrome (ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome)
  Head cancer
  Limb-mammary syndrome (LMS)
  Lung cancer
  Neck cancer
  Orofacial cleft 8 (OFC8)
  Ovarian cancer
  Rapp-Hodgkin syndrome (RHS) (= Ectodermal dysplasia Rapp-Hodgkin type (EDRH))
  Split-hand/foot malformation 4 (SHFM4)
PACSIN3 vesicle formation and transport, role in
PAH+del Hyperphenylalaninemia, mild (HPA, mild)
  Hyperphenylalaninemia, non-PKU mild (HPA, non-PKU mild)
  Phenylketonuria (PKU) (PAH deficiency)
PAPSS2 Brachyolmia, autosomal recessive
  Spondylodysplasia and premature pubarche
  Spondyloepimetaphyseal dysplasia, Pakistani type (SEMD, PA)
PAX2+del Optic nerve coloboma with renal disease (Renal-coloboma syndrome)
  Renal hypoplasia, isolated
PAX3+del Craniofacial-deafness-hand syndrome (CDHS)
  Rhabdomyosarcoma 2 (RMS2) (Rhabdomyosarcoma, alveolar (RMSA))
  Waardenburg syndrome, type 1 (WS1)
  Waardenburg syndrome, type 3 (WS3)
PAX6+del Aniridia (AN) (Aniridia II (AN2), formerly)
  Cataract with late-onset corneal dystrophy
  Coloboma of optic nerve (COLON)
  Coloboma, ocular (COLO)
  Ectopia pupillae
  Foveal hypoplasia and presenile cataract syndrome (O'Donnell-Papas syndrome)
  Foveal hypoplasia with anterior segment anomalies
  Foveal hypoplasia, isolated
  Gillespie syndrome (GS) (Aniridia, cerebellar ataxia, and mental deficiency (ACAMD))
  Keratitis, hereditary (KERH)
  Morning glory disc anomaly
  Optic nerve aplasia, bilateral (BONA)
  Optic nerve head pits, bilateral, congenital
  Optic nerve hypoplasia, bilateral (BONH)
  Peters anomaly (PAN)
  WAGR (Wilms tumor, aniridia, genitourinary anomalies , and mental retardation) syndrome (chromosome 11p13 deletion syndrome)
  WAGRO (Wilms tumor, aniridia, genitourinary anomalies, mental retardation, and obesity) syndrome (chromosome 11p13-p12 deletion syndrome)
PC Pyruvate carboxylase (PC) deficiency
PCNT (=MOPD2)+del Microcephalic osteodysplastic primordial dwarfism, type II (MOPD2)
  Seckel syndrome
PDE4D Acrodysostosis type 2, with or without hormone resistance (ACRDYS2)
PEX7+del Refsum disease, adult (RDA) (Motor and sensory neuropathy, hereditary, 4 (HMSN4))
  Rhizomelic chondrodysplasia punctata, type 1 (RCDP1) (Chondrodysplasia punctata, rhizomelic form)
PGN (offiz. SPG7)+del Spastic paraplegia 7, autosomal recessive (SPG7)
PHEX+del+dup Hypophosphatemic rickets, X-linked dominant (XLHR) (Vitamin D-resistant rickets, X-linked)
PIN1 Hypogonadotropic Hypogonadism without anosmia
PITX2+del Axenfeld-Rieger syndrome, type 1 (RIEG1) (Rieger syndrome type 1)
  Iridogoniodysgenesis, type 2 (IRID2)
  Peters anomaly (PAN)
  Ring dermoid of cornea (RDC)
PLCG2 (nur del) Familial cold autoinflammatory syndrome 3 (FCAS3)
PLOD1+del+dup Ehlers-Danlos syndrome, type VI (EDS6) (EDS, kyphoscoliotic type)
PLOD2 Bruck syndrome 2 (BRKS2) (Osteogenesis imperfecta with congenital joint contractures)
PMS2+del Colorectal cancer, hereditary nonpolyposis, type 4 (HNPCC4) (Lynch syndrome 4)
  Mismatch repair cancer syndrome (MMRCS) (Turcot syndrome) (Brain tumor-polyposis syndrome 1)
POMC Obesity, early-onset, susceptibility to
  Proopiomelanocortin deficiency (Obesity, adrenal insufficiency, and red hair)
POP1 Anauxetic dysplasia (Spondylometaepiphyseal dysplasia, Menger type)
POR+del Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis (ABS1)
  Cytochrome P450 oxidoreductase deficiency (POR deficiency)
  Disordered steroidogenesis due to cytochrome P450 oxidoreductase deficiency (DISPORD)
PORCN+del Focal dermal hypoplasia (FODH) (Goltz syndrome; Goltz-Gorlin syndrome)
POU1F1+del Pituitary hormone deficiency, combined, 1 (CPHD1)
PPIB Osteogenesis imperfecta, type IX (OI9)
PRKAR1A+del Acrodysostosis 1, with or without hormone resistance (ACRDYS1)
  Adrenocortical tumor, somatic
  Carney complex, type 1 (CNC1)
  Myxoma, intracardiac (INTMYX)
  Pigmented nodular adrenocortical disease, primary, 1 (PPNAD1) (Cushing syndrome, adrenal, due to PPNAD1)
  Thyroid carcinoma, papillary, somatic (PTC)
PRKG1 (=CGKI) nitric oxide/cGMP signaling pathway, key mediators
  signal transduction processes in diverse cell types, important components
PROK2 (=KAL4) Hypogonadism, hypogonadotropic
  Kallmann syndrome 4
PROKR2 (=KAL3) Kallmann syndrome 3
PROP1+del Pituitary hormone deficiency, combined, 2 (CPHD2) (Panhypopituitarism)
PRSS1 Pancreatitis, hereditary (PCTT)
  Trypsinogen deficiency
PTCH1+del Basal cell carcinoma, somatic (BCC)
  Basal cell nevus syndrome (BCNS) (Gorlin syndrome; Gorlin-Goltz syndrome)
  Holoprosencephaly-7 (HPE7)
  Medulloblastoma, somatic (MDB)
PTCH2 Basal cell carcinoma, somatic (BCC)
  Macrostomia, isolated (Lateral cleft, isolated)
  Medulloblastoma, somatic (MDB)
PTEN+del Bannayan-Riley-Ruvalcaba syndrome (BRRS)
  Chromosome 10q23 deletion syndrome
  Cowden disease (CD) (Cowden syndrome (CS)) (Multiple hamartoma syndrome (MHAM))
  Endometrial carcinoma, somatic (ENDMC)
  Glioma susceptibility 2 (GLM2)
  Juvenile polyposis syndrome, infantile
  Lhermitte-Duclos syndrome (LDD) (Cerebelloparenchymal disorder VI (CPD6))
  Macrocephaly/autism syndrome (MCEPHAS)
  Melanoma, malignant, somatic
  Meningioma
  Meningioma
  Oligodendroglioma
  Prostate cancer, somatic (PC)
  Proteus syndrome
  PTEN hamartoma tumor syndrome (PHTS) (includes Cowden syndrome (CS), Bannayan-Riley-Ruvalcaba syndrome (BRRS), Proteus syndrome (PS), and Proteus-like syndrome)
  Squamous cell carcinoma, head and neck, somatic (HNSCC)
  Thyroid carcinoma, follicular, somatic (FTC)
  VATERL (vertebral anomalies, anal atresia, congenital cardiac disease, tracheoesophageal fistula, renal anomalies, radial dysplasia, and other limb defects) with macrocephaly and ventriculomegaly association
PTH1R (= PTHR) Chondrodysplasia, Blomstrand type (BOCD)
  Eiken syndrome (Bone modeling defect of hands and feet)
  Enchondromatosis, multiple, Ollier type (ENCHOM) (Osteochondromatosis)
  Failure of tooth eruption, primary (PFE)
  Metaphyseal chondrodysplasia, Murk Jansen type
PTPN1 Insulin resistance, susceptibility to
PTPN11+del+dup Leukemia, juvenile myelomonocytic (JMML)
  Pterygium colli syndrome
  LEOPARD (multiple lentigines, electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonic stenosis, abnormal genitalia, retardation of growth, and sensorineural deafness) syndrome 1
  Metachondromatosis (METCDS)
  Noonan syndrome 1 (NS1)
PTRF Lipodystrophy, congenital generalized, type 4 (CGL4) (Berardinelli-Seip congenital lipodystrophy, type 4, with muscular dystrophy)
PYCR1+del Cutis laxa autosomal recessive type 2B (ARCL2B) (Cutis laxa with progeroid features)
  Cutis laxa autosomal recessive type IIIB (ARCL3B) (De Barsy Syndrome B)
Gen Krankheit
RAB23 Carpenter syndrome (CARPS) (Acrocephalopolysyndactyly type 2 (ACPS2))
RAF1+del+dup LEOPARD syndrome 2
  Noonan syndrome 5 (NS5)
RAG1+del Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity (T-CMVA)
  Combined cellular and humoral immune defects with granulomas (CCHIDG)
  Omenn syndrome (OS) (Severe combined immunodeficiency with hypereosinophilia)
  Severe combined immunodeficiency, B cell-negative (B- SCID)
RAG2+del Combined cellular and humoral immune defects with granulomas (CCHIDG)
  Omenn syndrome (OS) (Severe combined immunodeficiency with hypereosinophilia)
  Severe combined immunodeficiency, B cell-negative (= B- SCID)
RIT1 Noonan syndrome 8 (NS8)
RMRP Anauxetic dysplasia (Spondylometaepiphyseal dysplasia, Menger type)
  Cartilage-hair hypoplasia (CHH) (Metaphyseal chondrodysplasia, McKusick type)
  Metaphyseal dysplasia without hypotrichosis (Cartilage-hair hypoplasia-like skeletal dysplasia without hypotrichosis or immunodeficiency)
RNU4ATAC Microcephalic osteodysplastic primordial dwarfism, type I (MOPD1) (Taybi-Linder syndrome (TALS))
RPL5 Aase syndrome
  Aase-Smith syndrome II
  Diamond-Blackfan anemia 6
RPL11 Diamond-Blackfan anemia 7
RPL15 Diamond-Blackfan anemia 12
RPL26 Diamond-Blackfan anemia 11
RPL35A Diamond-Blackfan anemia 5
RPS6KA3 (=RSK2) +del+dup Coffin-Lowry syndrome (CLS)
  Mental retardation, X-linked 19 (MRX19)
RPS7 Diamond-Blackfan anemia 8
RPS10 Diamond-Blackfan anemia 9
RPS15 Diamond-Blackfan anemia, candidate
RPS17 Diamond-Blackfan anemia 4
RPS19 Aase syndrome
  Aase-Smith syndrome II
  Anemia, congenital erythroid hypoplastic
  Anemia, congenital hypoplastic, of Blackfan and Diamond
  Aregenerative anemia, chronic congenital
  Blackfan-Diamond Syndrome; BDS
  Diamond-Blackfan anemia 1 (DBA1) (DBA)
  Erythrogenesis imperfecta
  Red cell aplasia, pure, hereditary
RPS24 Diamond-blackfan anemia 3
RPS26 Diamond-Blackfan anemia 10
RPSA (= LAMR1) Asplenia, isolated congenital
RSK2 (offiz. RPS6KA3) +del+dup Coffin-Lowry syndrome (CLS)
  Mental retardation, X-linked 19 (MRX19)
RTEL1 Dyskeratosis congenita, autosomal dominant 4 (DKCA4)
RTEL1 Dyskeratosis congenita, autosomal recessive 5 (DKCB5)
RUNX1 Leukemia, acute myeloid
RUNX1 Platelet disorder, familial, with associated myeloid malignancy (FPDMM)
RUNX2+del Cleidocranial dysplasia (CCD) (= Cleidocranial dysostosis (CLCD))
  Dental anomalies, isolated
SALL1+del Townes-Brocks branchiootorenal-like syndrome
  Townes-Brocks syndrome (TBS) (Renal-ear-anal-radial syndrome)
SBDS+del Shwachman-Bodian-Diamond syndrome (SBDS) (Pancreatic insufficiency and bone marrow dysfunction)
SCYL1BP1 (offiz. GORAB) Geroderma osteodysplasticum (GO) (Walt Disney dwarfism)
SDCBP Role in linking syndecan-mediated signaling to the cytoskeleton, cytoskeletal-membrane organization, cell adhesion, protein trafficking, and the activation of transcription factors; perhaps a role in melanoma differentiation and neurofibromatosis II
SECISBP2+del Thyroid hormone metabolism, abnormal
SEDLIN (offiz. TRAPPC2)+del Spondyloepiphyseal dysplasia tarda, X-linked (SEDT)
SEMA3A+del Hypogonadotropic hypogonadism 16 with or without anosmia (HH16)
SERPINF1 Osteogenesis imperfecta, type VI (OI6)
SERPING1 (=C1NH)+del Angioedema, hereditary, type I (HAE1) (C1 esterase inhibitor, deficiency of)
  Angioedema, hereditary, type II (HAE2)
  Complement component 4 (C4), partial deficiency of
SERPINH1 Osteogenesis imperfecta, type X (OI10)
  Preterm premature rupture of the membranes, susceptibility to (PPROM)
SETBP1 Leukemia, acute T-cell lymphoblastic
  Schinzel-Giedion midface retraction syndrome (SGS)
SHOX+del Langer mesomelic dysplasia (LMD) (Dyschondosteosis, homozygous)
  Leri-Weill dyschondrosteosis (LWD) (Dyschondrosteosis (DCO))
  Short stature, idiopathic, X-linked (ISS)
SIX6 Microphthalmia, isolated, with cataract 2 (MCOPCT2)
SKI Shprintzen-Goldberg craniosynostosis syndrome (SGS) (Craniosynostosis with arachnodyctyly and abdominal hernias)
SLC5A2+del Renal glucosuria (GLYS1)
SLC6A8+del Cerebral creatine deficiency syndrome 1 (CCDS1)
SLC16A2 (=MCT8)+del Allan-Herndon-Dudley syndrome (AHDS) (Monocarboxylate transporter 8 (MCT8) deficiency) (T3 resistance) (Mental retardation, X-linked, with hypotonia)
SLC26A2 (=DTDST) Achondrogenesis Ib (ACG1B)
  Atelosteogenesis II (AO2)
  De la Chapelle dysplasia (DLCD)
  Diastrophic dysplasia (DTD)
  Diastrophic dysplasia, broad bone-platyspondylic variant (DTDB)
  Epiphyseal dysplasia, multiple, 4 (EDM4)
SLC34A1 Fanconi renotubular syndrome 2 (FRTS2)
  Nephrolithiasis/osteoporosis, hypophosphatemic, 1 (NPHLOP1)
SLC34A3+del Hypophosphatemic rickets with hypercalciuria (HHRH)
SLC46A1 Folate malabsorption, hereditary (HFM)
SMAD3 Loeys-Dietz syndrome, type 3 (LDS3) (Aneurysms-osteoarthritis syndrome)
SMAD4 Colorectal cancer (CRC)
  Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome (JPHT)
  Myhre syndrome (MYHRS) (Growth-mental deficiency syndrome of Myhre)
  Pancreatic cancer (PNCA)
  Polyposis, juvenile intestinal (PJI)
SMARCA4 Rhabdoid tumor predisposition syndrome 2 (RTPS2)
SMARCB1 (=INI1)+del Rhabdoid predisposition syndrome 1 (RPS1)
  Rhabdoid tumor (RDT) (Teratoid tumor, atypical)
  Schwannomatosis (Neurofibromatosis type 3 (NF3))
SMC1A (=SMC1L1)+del+dup Cornelia de Lange syndrome type 2 (CDLS2)
SMC3 Cornelia de Lange syndrome type 3 (CDLS3)
SNAI2+del Piebald trait (PBT) (= Piebaldism)
  Waardenburg syndrome, type 2D (WS2D)
SOS1 Fibromatosis, gingival, 1 (GINGF1)
  Noonan syndrome 4 (NS4)
SOST Craniodiaphyseal dysplasia, autosomal dominant (CDD)
  Sclerosteosis 1 (SOST1) (Hyperostosis, cortical, with syndactyly)
  Van Buchem disease (VBCH) (Hyperostosis corticalis generalis)
SOTOS (offiz. NSD1)+del Beckwith-Wiedemann syndrome (BWS)
  Leukemia, acute myeloid (AML)
  Sotos syndrome (SOTOSS)
  Weaver syndrome (WES)
SOX2+del Microphthalmia, syndromic 3 (MCOPS3)
  Optic nerve hypoplasia and abnormalities of the central nervous system
SP7 Osteogenesis imperfecta, type XII (OI12)
SPAST Spastic paraplegia 4, autosomal dominant
SPG7 (=PGN)+del Spastic paraplegia 7, autosomal recessive (SPG7)
SPINK5 Atopy
  Netherton syndrome (NETH) (= NS = Netherton disease)
SRCAP Floating-Harbor syndrome (FLHS)
SRP72 Bone marrow failure, familial (BMFF)
SRY 46,XX sex reversal 1 (SRXX1) (46,XX Gonadal dysgenesis, complete, SRY-positive)
  46,XY sex reversal 1 (SRXY1) (46,XY Gonadal dysgenesis, complete, SRY-related)
  46,XY True hermaphroditism, SRY-related
  46;XX True hermaphroditism, SRY-positive (Ovotesticular disorder of sex development)
  Swyer syndrome (46, XY Gonadal dysgenesis, complete)
STK11 Lung cancer, non-small cell (NSCLC)
  Melanoma, malignant sporadic
  Pancreatic cancer, sporadic
  Peutz-Jeghers syndrome (PJS) (Polyposis, hamartomatous intestinal)
  Testicular tumor, sporadic
SUFU+del Medulloblastoma, desmoplastic (MDB, desmoplastic)
Gen Krankheit
TAC3 Hypogonadotropic hypogonadism
TACR3 Hypogonadotropic hypogonadism
TBX5+del+dup Holt-Oram syndrome (HOS) (Heart-hand syndrome) (Atriodigital dysplasia)
TBX6+dup Spondylocostal dysostosis, autosomal dominant (SCDO)
TBX15 Cousin syndrome (COUSS) (Craniofacial dysmorphism, hypoplasia of scapula and pelvis, and short stature) (Pelviscapular dysplasia)
TBX18 anterior and posterior somite compartments, maintains the separation of
  otic fibrocyte differentiation, role in
  posterior pole of the heart, role in formation of posterior pole of the
  ureter, role in formation of
  vertebral column, role in formation of
TCAB1 (offiz. WRAP53) Dyskeratosis congenita, autosomal recessive 3
TCOF1+del Hemifacial microsomia (HFM) (Goldenhar syndrome) (Oculoauriculovertebral dysplasia (OAVD))
  Treacher Collins syndrome 1 (TCS1)
TCTN3 Joubert syndrome 18 (JBTS18)
  Orofaciodigital syndrome IV (OFD4) (Mohr-Majewski syndrome)
TEM8 (offiz. ANTXR1) Hemangioma, capillary infantile, susceptibility to
TERC Aplastic anemia, susceptibility to (AA)
  Dyskeratosis congenita, autosomal dominant 1
  Pulmonary fibrosis, idiopathic, susceptibility to (IPF)
TERT Bone marrow failure, telomere-related, 1
  Coronary artery disease
  Dyskeratosis congenita, autosomal dominant 2
  Dyskeratosis congenita, autosomal recessive 4
  Leukemia, acute myeloid
  Melanoma, cutaneous malignant, 9
  Pulmonary fibrosis, telomere-related, 1
TGFB2+del Loeys-Dietz syndrome, type 4 (LDS4)
TGFBR1+dup Loeys-Dietz syndrome, type 1A (LDS1A) (Furlong syndrome)
  Loeys-Dietz syndrome, type 2A (LDS2A) (Aortic aneurysm, familial thoracic 5 (AAT5))
  Multiple self-healing squamous epithelioma, susceptiblity to (MSSE)
TGFBR2 Colorectal cancer, hereditary nonpolyposis, type 6 (HNPCC6)
  Esophageal cancer, somatic
  Loeys-Dietz syndrome, type 1B (LDS1B)
  Loeys-Dietz syndrome, type 2B (LDS2B) (Aortic aneurysm, familial thoracic 3 (AAT3))
THRB Thyroid hormone resistance, generalized, autosomal dominant (GRTH = GTHR)
  Thyroid hormone resistance, generalized, autosomal recessive (GRTH) (Refetoff syndrome)
  Thyroid hormone resistance, selective pituitary (PRTH)
TINF2 Dyskeratosis congenita, autosomal dominant, 3 (DKCA3)
TINF2 Revesz syndrome (exudative retinopathy with bone marrow failure (ERBMF))
TMEM38B+del Osteogenesis imperfecta, autosomal recessive
TNFRSF11B (=OPG) Paget disease, juvenile (JPD) (Hyperphosphatasia, chronic congenital idiopathic)
TNNI2 Arthrogryposis multiplex congenita, distal, type 2B (AMCD2B)
TNNI3 Cardiomyopathy, dilated, 1FF
  Cardiomyopathy, dilated, 2A
  Cardiomyopathy, familial hypertrophic, 7
  Cardiomyopathy, familial restrictive
TNNT3 Arthyrgryposis, distal, type 2B (DA2B) (= Arthrogryposis multiplex congenita, distal, type 2B (AMCD2B)) (Sheldon-Hall syndrome (SHS))
TNSALP (offiz. ALPL)+del Hypophosphatasia (HOPS), adult, childhood, infantile or perinatal lethal
  Odontohypophosphatasia
TP63 (=p63) ADULT (Acro-dermato-ungual-lacrimal-tooth) syndrome
  Cervical cancer
  Colon cancer
  Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3)
  Hay-Wells syndrome (ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome)
  Head cancer
  Limb-mammary syndrome (LMS)
  Lung cancer
  Neck cancer
  Orofacial cleft 8 (OFC8)
  Ovarian cancer
  Rapp-Hodgkin syndrome (RHS) (Ectodermal dysplasia, anhidrotic, with cleft lip/palate)
  Split-hand/foot malformation 4 (SHFM4)
TPM1 Cardiomyopathy, dilated, 1Y (CMD1Y)
  Cardiomyopathy, familial hypertrophic, 3 (CMH3)
TPM2 Arthrogryposis, distal, type 1A (DA1A) (Arthrogryposis multiplex congenita, distal, type 1 (AMCD1))
  Arthrogryposis, distal, type 2B (DA2B) (Sheldon-Hall syndrome (SHS))
  Nemaline myopathy 4 (NEM4)
TRAPPC2 (= SEDLIN)+del Spondyloepiphyseal dysplasia tarda, X-linked (SEDT)
TRIP11 Achondrogenesis, type IA (ACG1A) (Achondrogenesis, Houston-Harris type)
  Leukemia, acute myelogenous
TRPS1+del Trichorhinophalangeal syndrome, type I (TRPS1)
  Trichorhinophalangeal syndrome, type III (TRPS3) (Sugio-Kajii syndrome)
TRPS1del Trichorhinophalangeal syndrome, type II (TRPS2) (Langer-Giedion syndrome (LGS)) (Chromosome 8q24.1 deletion syndrome)
TRPS2+del (offiz. EXT1) Chondrosarcoma (CHDSA)
  Exostoses, multiple, type 1 (EXT1) (=Osteochondromas, multiple)
  Langer-Giedion syndrome (LGS) (Trichorhinophalangeal syndrome, type II (TRPS2))
TRPV4 Brachyolmia type 3 (BRAC3)
  Hereditary motor and sensory neuropathy, type IIc (HMSN2C)
  Metatropic dysplasia (MTD)
  Parastremmatic dwarfism (PSTD)
  Scapuloperoneal spinal muscular atrophy (SPSMA)
  Spondyloepiphyseal dysplasia (SED), Maroteaux type (SEDM) (Pseudo-Morquio syndrome, type 2)
  Sodium serum level QTL 1 (SSQTL1) (Hyponatremia)
  Spinal muscular atrophy, distal, congenital nonprogressive (DSMAC)
  Spondylometaphyseal dysplasia (SMD), Kozlowski type (SMDK)
TSC1+del Focal cortical dysplasia of Taylor (FCDT)
  Focal cortical dysplasia of Taylor, type IIA
  Lymphangioleiomyomatosis (LAM) (Lymphangiomatosis)
  Tuberous sclerosis-1 (TSC1)
TSC2+del Lymphangioleiomyomatosis, somatic
  Tuberous sclerosis-2 (TSC2)
TSPY1 (=TSPY) Gonadoblastoma (GBY)
TWIST1+del Craniosynostosis, type 1 (CRS1)
  Saethre-Chotzen syndrome (SCS) (Acrocephalosyndactyly, type III (ACS3))
  Saethre-Chotzen syndrome with eyelid anomalies (Blepharophimosis, epicanthus inversus, and ptosis 3 (BPE3), formerly)
  Scaphocephaly (Oxycephaly)
<
Gen Krankheit                                                                                                                                                                                                                                                                                                                                                                                                                                        
UBE3A+del Angelman syndrome (AS) (happy puppet syndrome, formerly)                                                                                                                                                                                                                                                                                                                                                                                                                                        
USB1 (=C16orf57) Poikiloderma with neutropenia (PN) (Poikiloderma with neutropenia, Clericuzio-type)                                                                                                                                                                                                                                                                                                                                                                                                                                        
VAX1 Anophthalmia                                                                                                                                                                                                                                                                                                                                                                                                                                        
  Microphthalmia                                                                                                                                                                                                                                                                                                                                                                                                                                        
VEGFA Microvascular complications of diabetes, susceptibility to, 1 (MVCD1)                                                                                                                                                                                                                                                                                                                                                                                                                                        
VHL+del Erythrocytosis, familial, 2 (ECYT2) (Polycythemia, Chuvash type)                                                                                                                                                                                                                                                                                                                                                                                                                                        
  Hemangioblastoma, cerebellar, somatic                                                                                                                                                                                                                                                                                                                                                                                                                                        
  Pheochromocytoma                                                                                                                                                                                                                                                                                                                                                                                                                                        
  Renal cell carcinoma, somatic (RCC) (Hypernephroma) (Adrenocarcinoma of kidney)                                                                                                                                                                                                                                                                                                                                                                                                                                        
  von Hippel-Lindau syndrome (VHLS) (von Hippel-Lindau disease (VHLD))                                                                                                                                                                                                                                                                                                                                                                                                                                        
VLCAD (offiz. ACADVL) Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD)                                                                                                                                                                                                                                                                                                                                                                                                                                        
WDR34 Asphyxiating thoracic dystrophy (Jeune syndrome)                                                                                                                                                                                                                                                                                                                                                                                                                                        
  Short rib-polydactyly syndrome, type III (SRPS3) (Verma-Naumoff syndrome)                                                                                                                                                                                                                                                                                                                                                                                                                                        
WDR35+del Cranioectodermal dysplasia 2 (CED2) (Sensenbrenner syndrome)                                                                                                                                                                                                                                                                                                                                                                                                                                        
  Short rib-polydactyly syndrome, type V (SRPS5)                                                                                                                                                                                                                                                                                                                                                                                                                                        
WDR60 Short rib-polydactyly syndrome, type VI (SRPS6)                                                                                                                                                                                                                                                                                                                                                                                                                                        
WFS1+del Diabetes mellitus, noninsulin-dependent (NIDDM), association with                                                                                                                                                                                                                                                                                                                                                                                                                                        
  Deafness, autosomal dominant 6/14/38 (DFNA6/14/38)                                                                                                                                                                                                                                                                                                                                                                                                                                        
  Wolfram syndrome 1 (WFS1) (Diabetes insipidus and mellitus with optic atrophy and deafness (DIDMOAD))                                                                                                                                                                                                                                                                                                                                                                                                                                        
  Wolfram-like syndrome, autosomal dominant (WFSL) (Hearing loss, progressive, with optic atrophy and/or impaired glucose regulation)                                                                                                                                                                                                                                                                                                                                                                                                                                        
WISP3 Arthropathy, progressive pseudorheumatoid, of childhood (PPAC) (Progressive pseudorheumatoid dysplasia (PPD))                                                                                                                                                                                                                                                                                                                                                                                                                                        
WNT1 Osteogenesis imperfecta                                                                                                                                                                                                                                                                                                                                                                                                                                        
WNT4 Mullerian aplasia and hyperandrogenism (MULLAPL) (Mullerian duct failure and hyperandrogenism)                                                                                                                                                                                                                                                                                                                                                                                                                                        
  SERKAL syndrome (46,XX sex reversal with dysgenesis of kidneys, adrenals, and lungs (SERKAL))                                                                                                                                                                                                                                                                                                                                                                                                                                        
WNT7A Fuhrmann syndrome (FUHRS) (Fibular aplasia or hypoplasia femoral bowing and poly- syn- and oligodactyly)                                                                                                                                                                                                                                                                                                                                                                                                                                        
  Ulna and fibula, absence of, with severe limb deficiency (Limb/pelvis-hypoplasia/aplasia syndrome (LPHAS)) (Al-Awadi/Raas-Rothschild syndrome (AARRS)) (Schinzel phocomelia syndrome)                                                                                                                                                                                                                                                                                                                                                                                                                                        
WNT10A Ectodermal dysplasia, hypohidrotic/anhidrotic                                                                                                                                                                                                                                                                                                                                                                                                                                        
  Odontoonychodermal dysplasia (OODD)                                                                                                                                                                                                                                                                                                                                                                                                                                        
  Schopf-Schulz-Passarge syndrome (SSPS) (Keratosis palmoplantaris with cystic eyelids, hypodontia, and hypotrichosis)                                                                                                                                                                                                                                                                                                                                                                                                                                        
  Succedaneous teeth, agenesis of                                                                                                                                                                                                                                                                                                                                                                                                                                        
  Tooth agenesis, selective, 4 (STHAG4) (Lateral incisors, pegged or missing)                                                                                                                                                                                                                                                                                                                                                                                                                                        
WNT10B Split-hand/foot malformation 6 (SHFM6) (Ectrodactyly, autosomal recessive)                                                                                                                                                                                                                                                                                                                                                                                                                                        
WRAP53 (= TCAB1) Dyskeratosis congenita, autosomal recessive 3                                                                                                                                                                                                                                                                                                                                                                                                                                        
WT1+del Denys-Drash syndrome (DDS) (Nephropathy, Wilms tumor, and genital anomalities)                                                                                                                                                                                                                                                                                                                                                                                                                                        
  Desmoplastic small round cell tumor (DSRCT)                                                                                                                                                                                                                                                                                                                                                                                                                                        
  Frasier syndrome (FS)                                                                                                                                                                                                                                                                                                                                                                                                                                        
  Meacham syndrome (MEACHS)                                                                                                                                                                                                                                                                                                                                                                                                                                        
  Mesothelioma, somatic (MESOM)                                                                                                                                                                                                                                                                                                                                                                                                                                        
  Nephrotic syndrome, type 4 (NPHS4)                                                                                                                                                                                                                                                                                                                                                                                                                                        
  WAGR (Wilms tumor, aniridia, genitourinary anomalies, and mental retardation) syndrome (Chromosome 11p13 deletion syndrome)                                                                                                                                                                                                                                                                                                                                                                                                                                        
  Wilms tumor, type 1 (WT1) (Nephroblastoma)