ACAN# | Spondyloepimetaphyseal dysplasia, aggrecan type, Spondyloepiphyseal dysplasia, Kimberley type, Osteochondritis dissecans, short stature, and early-onset osteoarthritis | AD/AR | 18 | 30 |
ACP5 | Spondyloenchondrodysplasia with immune dysregulation | AR | 11 | 26 |
ACTB | Baraitser-Winter syndrome | AD | 46 | 54 |
ACTG1 | Deafness, Baraitser-Winter syndrome | AD | 25 | 43 |
ACVR1 | Fibrodysplasia ossificans progressiva | AD | 14 | 19 |
ADAMTS10 | Weill-Marchesani syndrome | AR | 8 | 13 |
ADAMTS17 | Weill-Marchesani-like syndrome | AR | 6 | 7 |
ADAMTSL2 | Geleophysic dysplasia | AR | 8 | 28 |
AGPS | Rhizomelic chondrodysplasia punctata type 3 | AR | 4 | 8 |
AIFM1 | Deafness, Combined oxidative phosphorylation deficiency 6, Cowchock syndrome | XL | 27 | 29 |
AKT1 | Proteus syndrome, Cowden syndrome | AD | 5 | 6 |
ALPL | Odontohypophosphatasia, Hypophosphatasia perinatal lethal, infantile, juvenile and adult forms | AD/AR | 61 | 290 |
ALX3 | Frontonasal dysplasia type 1 | AR | 7 | 7 |
ALX4 | Frontonasal dysplasia type 2, Parietal foramina | AD/AR | 15 | 23 |
AMER1 | Osteopathia striata with cranial sclerosis | XL | 14 | 38 |
ANKH | Calcium pyrophosphate deposition disease (familial chondrocalcinosis type 2), Craniometaphyseal dysplasia autosomal dominant type | AD | 12 | 20 |
ANKRD11 | KBG syndrome | AD | 119 | 122 |
ANO5 | Gnathodiaphyseal dysplasia, LGMD2L and distal MMD3 muscular dystrophies | AD/AR | 60 | 115 |
ARHGAP31 | Adams-Oliver syndrome | AD | 2 | 4 |
ARSB | Mucopolysaccharidosis (Maroteaux-Lamy) | AR | 27 | 199 |
ARSE | Chondrodysplasia punctata X-linked recessive, brachytelephalangic type (CDPX1) | XL | 21 | 46 |
ATP6V0A2 | Cutis laxa, Wrinkly skin syndrome | AR | 16 | 54 |
ATR | Cutaneous telangiectasia and cancer syndrome, Seckel syndrome | AD/AR | 8 | 18 |
B3GALT6 | Spondyloepimetaphyseal dysplasia with joint laxity, Ehlers-Danlos syndrome | AR | 17 | 26 |
B3GAT3 | Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects | AR | 5 | 13 |
B4GALT7 | Ehlers-Danlos syndrome, progeroid form | AR | 9 | 9 |
BCS1L | Bjornstad syndrome, GRACILE syndrome, Leigh syndrome, Mitochondrial complex III deficiency, nuclear type 1 | AR | 33 | 37 |
BGN | Spondyloepimetaphyseal dysplasia, X-linked, Meester-Loeys syndrome | XL | 8 | 7 |
BHLHA9 | Syndactyly Malik-Percin type, mesoaxial synostotic, with phalangeal reduction, Split hand-foot malformation with long bone deficiency (SHFLD3), Gollop-Wolfgang | AR | 4 | 37 |
BMP1 | Osteogenesis imperfecta | AR | 7 | 15 |
BMP2 | Brachydactyly type A2 | AD | 5 | 28 |
BMPER | Diaphanospondylodysostosis | AR | 5 | 17 |
BMPR1B | Acromesomelic dysplasia, Demirhan, Brachydactyly C/Symphalangism-like pheno, Brachydactyly type A2 | AD/AR | 12 | 16 |
BRAF | LEOPARD syndrome, Noonan syndrome, Cardiofaciocutaneous syndrome | AD | 135 | 65 |
BRCA2 | Fanconi anemia, Medulloblastoma, Glioma susceptibility, Pancreatic cancer, Wilms tumor, Breast-ovarian cancer, familial | AD/AR | 2959 | 2364 |
BRIP1 | Fanconi anemia, Breast cancer | AD/AR | 182 | 166 |
CA2 | Osteopetrosis, with renal tubular acidosis | AR | 9 | 31 |
CANT1 | Desbuquois dysplasia | AR | 20 | 28 |
CASR | Hypocalcemia, Neonatal hyperparathyroidism, Familial Hypocalciuric hypercalcemia with transient Neonatal hyperparathyroidism | AD/AR | 103 | 393 |
CBL | Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia | AD | 23 | 38 |
CCDC8 | Three M syndrome 3 | AR | 2 | 3 |
CDC6 | Meier-Gorlin syndrome (Ear-patella-short stature syndrome) | AR | 2 | 2 |
CDC45 | Meier-Gorlin syndrome 7 | AR | 10 | 19 |
CDKN1C | Beckwith-Wiedemann syndrome, IMAGE syndrome | AD | 28 | 81 |
CDT1 | Meier-Gorlin syndrome (Ear-patella-short stature syndrome) | AR | 6 | 11 |
CENPJ | Seckel syndrome, Microcephaly | AR | 32 | 9 |
CEP63 | Seckel syndrome | AR | 7 | 2 |
CEP152 | Seckel syndrome, Microcephaly | AR | 19 | 20 |
CHST3 | Spondyloepiphyseal dysplasia with congenital joint dislocations (recessive Larsen syndrome) | AR | 19 | 36 |
CHST14 | Ehlers-Danlos syndrome, musculocontractural | AR | 14 | 21 |
CHSY1 | Temtamy preaxial brachydactyly syndrome | AR | 6 | 11 |
CKAP2L | Filippi syndrome | AR | 7 | 7 |
CLCN5 | Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis, Hypophosphatemic rickets,, Nephrolithiasis, I, Dent disease | XL | 45 | 267 |
CLCN7 | Osteopetrosis | AD/AR | 13 | 95 |
COL1A1 | Ehlers-Danlos syndrome, Caffey disease, Osteogenesis imperfecta type 1, Osteogenesis imperfecta type 2, Osteogenesis imperfecta type 3, Osteogenesis imperfecta type 4 | AD | 290 | 943 |
COL1A2 | Ehlers-Danlos syndrome, cardiac valvular form, Osteogenesis imperfecta type 1, Osteogenesis imperfecta type 2, Osteogenesis imperfecta type 3, Osteogenesis imperfecta type 4 | AD/AR | 162 | 496 |
COL2A1 | Avascular necrosis of femoral head, Rhegmatogenous retinal detachment, Epiphyseal dysplasia, with myopia and deafness, Czech dysplasia, Achondrogenesis type 2, Platyspondylic dysplasia Torrance type, Hypochondrogenesis, Spondyloepiphyseal dysplasia congenital (SEDC), Spondyloepimetaphyseal dysplasia (SEMD) Strudwick type, Kniest dysplasia, Spondyloperipheral dysplasia, Mild SED with premature onset arthrosis, SED with metatarsal shortening, Stickler syndrome type 1 | AD | 166 | 544 |
COL3A1 | Ehlers-Danlos syndrome | AD | 499 | 625 |
COL5A1 | Ehlers-Danlos syndrome | AD | 84 | 151 |
COL5A2 | Ehlers-Danlos syndrome | AD | 21 | 34 |
COL9A1 | Stickler syndrome recessive type, Multiple epiphyseal dysplasia type 6 (EDM6) | AR | 9 | 5 |
COL9A2 | Stickler syndrome, Multiple epiphyseal dysplasia type 2 (EDM2) | AD/AR | 7 | 12 |
COL9A3 | Multiple epihyseal dysplasia type 3 (EDM3) | AD/AR | 10 | 15 |
COL10A1 | Metaphyseal chondrodysplasia, Schmid | AD | 21 | 51 |
COL11A1 | Marshall syndrome, Fibrochondrogenesis, Stickler syndrome type 2 | AD/AR | 30 | 86 |
COL11A2 | Weissenbacher-Zweymuller syndrome, Deafness, Otospondylomegaepiphyseal dysplasia, Fibrochondrogenesis, Stickler syndrome type 3 (non-ocular) | AD/AR | 28 | 55 |
COMP | Pseudoachondroplasia, Multiple ephiphyseal dysplasia | AD | 43 | 184 |
CREB3L1 | Osteogenesis imperfecta, type XVI | AR | | 1 |
CREBBP | Rubinstein-Taybi syndrome | AD | 156 | 348 |
CRTAP | Osteogenesis imperfecta type 2, Osteogenesis imperfecta type 3, Osteogenesis imperfecta type 4 | AR | 12 | 28 |
CSPP1 | Jeune asphyxiating thoracic dystrophy, Joubert syndrome | AR | 27 | 27 |
CTSK | Pycnodysostosis | AR | 25 | 54 |
CUL7 | 3-M syndrome, Yakut short stature syndrome | AR | 26 | 80 |
CYP27B1 | Vitamin D-dependent rickets | AR | 23 | 73 |
DDR2 | Spondylometaepiphyseal dysplasia, short limb-hand type | AR | 11 | 7 |
DHCR7 | Smith-Lemli-Opitz syndrome | AR | 67 | 216 |
DHCR24 | Desmosterolosis | AR | 6 | 8 |
DHODH | Postaxial acrofacial dysostosis (Miller syndrome) | AR | 8 | 20 |
DLL3 | Spondylocostal dysostosis | AR | 11 | 23 |
DLL4 | Adams-Oliver syndrome | AD | 10 | 12 |
DLX3 | Amelogenesis imperfecta, Trichodontoosseous syndrome | AD | 5 | 6 |
DLX5 | Split-hand/foot malformation with sensorineural hearing loss | AR | 3 | 8 |
DMP1 | Hypophosphatemic rickets | AR | 5 | 10 |
DOCK6 | Adams-Oliver syndrome | AR | 21 | 19 |
DVL1 | Robinow syndrome | AD | 16 | 17 |
DYM | Dyggve-Melchior-Clausen dysplasia, Smith-McCort dysplasia | AR | 21 | 34 |
DYNC2H1 | Short -rib thoracic dysplasia with or without polydactyly type 1, Short -rib thoracic dysplasia with or without polydactyly type 3, Asphyxiating thoracic dysplasia (ATD; Jeune), SRPS type 2 (Majewski) | AR/Digenic | 144 | 109 |
EBP | Chondrodysplasia punctata, Male EBP disorder with neurologic defects (MEND) | XL | 43 | 90 |
EFNB1 | Craniofrontonasal dysplasia | XL | 27 | 115 |
EFTUD2 | Mandibulofacial dysostosis with microcephaly, Esophageal atresia, syndromic | AD | 43 | 93 |
EIF2AK3 | SED, Wolcott-Rallison type | AR | 9 | 78 |
ENAM | Amelogenesis imperfecta | AR | 8 | 18 |
ENPP1 | Arterial calcification, Hypophosphatemic rickets | AR | 20 | 68 |
EOGT | Adams-Oliver syndrome | AR | 3 | 5 |
EP300 | Rubinstein-Taybi syndrome | AD | 57 | 91 |
ERCC4 | Fanconi anemia, Xeroderma pigmentosum, XFE progeroid syndrome | AR | 11 | 59 |
ESCO2 | SC phocomelia syndrome, Roberts syndrome | AR | 29 | 30 |
EVC | Weyers acrofacial dysostosis, Ellis-van Creveld syndrome | AD/AR | 22 | 80 |
EVC2 | Ellis-van Creveld syndrome, Weyers acrodental dysostosis | AD/AR | 34 | 67 |
EXT1 | Multiple cartilagenious exostoses 1 | AD | 67 | 497 |
EXT2 | Multiple cartilagenious exostoses 2 | AD | 32 | 242 |
EXTL3 | Immunoskeletal dysplasia with neurodevelopmental abnormalities (ISDNA) | AR | 4 | 7 |
EZH2 | Weaver syndrome | AD | 29 | 40 |
FAM20A | Amelogenesis imperfecta (Enamel-renal syndrome) | AR | 17 | 41 |
FAM20C | Hypophosphatemia, hyperphosphaturia, dental anomalies, intracerebral calcifications and osteosclerosis (Raine syndrome) | AR | 13 | 23 |
FAM58A | Toe syndactyly, telecanthus, and anogenital and renal malformations (STAR syndrome) | XL | 8 | 11 |
FAM83H | Amelogenesis imperfecta | AD | 14 | 29 |
FAM111A | Kenny-Caffey syndrome, type 2 | AD | 4 | 9 |
FANCA | Fanconi anemia | AR | 76 | 541 |
FANCB | Fanconi anemia | XL | 10 | 20 |
FANCC | Fanconi anemia | AR | 70 | 58 |
FANCD2* | Fanconi anemia | AR | 14 | 57 |
FANCE | Fanconi anemia | AR | 5 | 16 |
FANCF | Fanconia anemia | AR | 7 | 16 |
FANCG | Fanconi anemia | AR | 13 | 89 |
FANCI | Fanconi anemia | AR | 12 | 43 |
FANCL | Fanconi anemia | AR | 7 | 22 |
FANCM | Fanconi anemia | AR | 2 | 49 |
FBN1 | MASS syndrome, Marfan syndrome, Acromicric dysplasia, Geleophysic dysplasia | AD | 919 | 2548 |
FBN2 | Congenital contractural arachnodactyly (Beals syndrome) | AD | 45 | 95 |
FGD1 | Aarskog-Scott syndrome, Mental retardation, syndromic | XL | 26 | 49 |
FGF10 | Aplasia of lacrimal and salivary glands | AD | 9 | 12 |
FGF23 | Tumoral calcinosis, hyperphosphatemic, Hypophosphatemic rickets | AD/AR | 10 | 16 |
FGFR1 | Pfeiffer syndrome, Trigonocephaly, Hypogonadotropic hypogonadism, Osteoglophonic Dwarfism - Craniostenosis, Hartsfield syndrome | AD/Digenic/Multigenic | 69 | 241 |
FGFR2 | Apert syndrome, Pfeiffer syndrome, Jackson-Weiss syndrome, Lacrimoauriculodentodigital syndrome, Beare-Stevenson cutis gyrata syndrome, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Craniofacial-skeletal-dermatological dysplasia, Crouzon syndrome, Bent bone dysplasia | AD | 93 | 150 |
FGFR3 | Lacrimoauriculodentodigital syndrome, Muenke syndrome, Crouzon syndrome with acanthosis nigricans, Camptodactyly, tall stature, and hearing loss (CATSHL) syndrome, Achondroplasia, Hypochondroplasia, Thanatophoric dysplasia type 1, Thanatophoric dysplasia type 2, SADDAN | AD/AR | 53 | 72 |
FKBP10 | Bruck syndrome type 2, Osteogenesis imperfecta type 3, Osteogenesis imperfecta type 4 | AR | 20 | 37 |
FLNA | Frontometaphyseal dysplasia, Osteodysplasty Melnick-Needles, Otopalatodigital syndrome type 1, Otopalatodigital syndrome type 2, Terminal osseous dysplasia with pigmentary defects | XL | 119 | 235 |
FLNB | Larsen syndrome (dominant), Atelosteogenesis type 1, Atelosteogenesis type 3, Spondylo-carpal-tarsal dyspasia | AD/AR | 41 | 103 |
GALNT3 | Tumoral calcinosis, hyperphosphatemic | AR | 16 | 34 |
GDF5 | Multiple synostoses syndrome, Fibular hypoplasia and complex brachydactyly, Acromesomelic dysplasia, Hunter-Thompson, Symphalangism, proximal, Chondrodysplasia, Brachydactyly type A2, Brachydactyly type C, Grebe dysplasia | AD/AR | 23 | 50 |
GH1 | Isolated growth hormone deficiency, Kowarski syndrome | AD/AR | 25 | 86 |
GHR | Growth hormone insensitivity syndrome (Laron syndrome) | AD/AR | 35 | 109 |
GHRHR | Isolated growth hormone deficiency | AR | 13 | 43 |
GJA1 | Oculodentodigital dysplasia mild type, Oculodentodigital dysplasia severe type, Syndactyly type 3 | AD/AR | 32 | 106 |
GLI2 | Culler-Jones syndrome | AD | 26 | 76 |
GLI3 | Acrocallosal syndrome, Pallister-Hall syndrome, Grieg cephalopolysndactyly syndrome, Postaxial polydactyly type A, Preaxial polydactyly type 3, Preaxial polydactyly type 4 | AD | 63 | 229 |
GNAS | McCune-Albright syndrome, Progressive osseous heteroplasia, Pseudohypoparathyroidism, Albright hereditary osteodystrophy | AD | 62 | 265 |
GNPAT | Rhizomelic chondrodysplasia punctata, rhizomelic | AR | 8 | 14 |
GPC6 | Omodysplasia 1 | AR | 11 | 9 |
HDAC8 | Cornelia de Lange syndrome | XL | 33 | 44 |
HESX1 | Septooptic dysplasia, Pituitary hormone deficiency, combined | AR/AD | 14 | 26 |
HOXA13 | Hand-foot-uterus syndrome, Hand-foot-genital syndrome, Guttmacher syndrome | AD | 8 | 24 |
HOXD13 | Brachydactyly-syndactyly syndrome, Synopolydactyly, Syndactyly, Synopolydactyly with clefting, Brachydactyly type D | AD/AR | 18 | 40 |
HRAS | Costello syndrome, Congenital myopathy with excess of muscle spindles | AD | 41 | 29 |
HSPG2 | Schwartz-Jampel syndrome, Dyssegmental dysplasia Silverman-Handmaker type, Dyssegmental dysplasia Rolland-Desbuquis type | AD/AR | 16 | 56 |
IDS | Mucopolysaccharidosis | XL | 80 | 631 |
IFITM5 | Osteogenesis imperfecta type 5 | AD | 2 | 2 |
IFT43 | Cranioectodermal dysplasia 3 | AR | 4 | 6 |
IFT80 | Short -rib thoracic dysplasia with or without polydactyly, Asphyxiating thoracic dysplasia (ATD; Jeune) | AR | 11 | 7 |
IFT122 | Sensenbrenner syndrome, Cranioectodermal dysplasia (Levin-Sensenbrenner) type 1, Cranioectodermal dysplasia (Levin-Sensenbrenner) type 2 | AR | 11 | 21 |
IFT140 | Short -rib thoracic dysplasia with or without polydactyly, Asphyxiating thoracic dysplasia (ATD; Jeune) | AR | 37 | 54 |
IFT172 | Retinitis pigmentosa, Short -rib thoracic dysplasia with or without polydactyly, Asphyxiating thoracic dysplasia (ATD; Jeune) | AR | 21 | 23 |
IGF1 | Insulin-like growth factor I deficiency | AR | 4 | 8 |
IGF1R | Insulin-like growth factor I, resistance | AD/AR | 12 | 61 |
IGFALS | Insulin-like growth factor-binding protein, acid-labile subunit, deficiency | AR | 5 | 33 |
IHH | Acrocapitofemoral dysplasia, Brachydactyly, Syndactyly type Lueken | AD/AR | 12 | 20 |
IMPAD1 | Chondrodysplasia with joint dislocations, GPAPP type | AR | 5 | 5 |
INPPL1 | Opsismodysplasia | AR | 17 | 32 |
INSR | Hyperinsulinemic hypoglycemia, familial, Rabson-Mendenhall syndrome, Donohoe syndrome | AD/AR | 44 | 183 |
IRS1 | Diabetes mellitus, noninsulin-dependent | AD/AR | 3 | 16 |
KAT6B | Ohdo syndrome, SBBYS variant, Genitopatellar syndrome | AD | 38 | 62 |
KIF7 | Acrocallosal syndrome, Hydrolethalus syndrome, Al-Gazali-Bakalinova syndrome, Joubert syndrome | AR/Digenic | 23 | 40 |
KIF22 | Spondyloepimetaphyseal dysplasia with joint laxity, type 2 | AD | 4 | 4 |
KMT2A | Wiedemann-Steiner syndrome | AD | 107 | 83 |
KRAS | Noonan syndrome, Cardiofaciocutaneous syndrome | AD | 61 | 34 |
LARP7 | Alazami syndrome | AR | 16 | 6 |
LBR | Pelger-Huet anomaly, Reynolds syndrome, Greenberg/HEM skeletal dysplasia, Hydrops-ectopic calcification-moth-eaten skeletal dysplasia | AD | 18 | 23 |
LEMD3 | Buschke-Ollendorff syndrome, Osteopoikilosis | AD | 11 | 31 |
LHX3 | Pituitary hormone deficiency, combined | AR | 9 | 16 |
LHX4 | Pituitary hormone deficiency, combined | AD | 10 | 23 |
LIFR | Stuve-Wiedemann dysplasia, Schwartz-Jampel type 2 syndrome | AR | 11 | 32 |
LMNA | Heart-hand syndrome, Slovenian, Limb-girdle muscular dystrophy, Muscular dystrophy, congenital, LMNA-related, Lipodystrophy (Dunnigan), Emery-Dreiffus muscular dystrophy, Malouf syndrome, Dilated cardiomyopathy (DCM), Mandibuloacral dysplasia type A, Progeria Hutchinson-Gilford type | AD/AR | 231 | 553 |
LMX1B | Nail-patella syndrome | AD | 26 | 192 |
LONP1 | Cerebral, Ocular, Dental, Auricular, and Skeletal anomalies (CODAS) syndrome | AR | 7 | 16 |
LRP4 | Cenani-Lenz syndactyly syndrome, Sclerosteosis, Myasthenic syndrome, congenital | AD/AR | 13 | 24 |
LRP5 | Van Buchem disease, Osteoporosis-pseudoglioma syndrome, Hyperostosis, endosteal, Osteosclerosis, Exudative vitreoretinopathy, Osteopetrosis late-onset form type 1, LRP5 primary osteoporosis | AD/AR/Digenic | 55 | 188 |
LTBP2 | Weill-Marchesani syndrome, Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma, Glaucoma, primary congenital | AR | 21 | 26 |
LTBP3 | Dental anomalies and short stature | AR | 15 | 10 |
LZTR1 | Schwannomatosis, Noonan syndrome | AD | 27 | 64 |
MAFB | Multicentric carpotarsal osteolysis | AD | 13 | 22 |
MAP2K1 | Cardiofaciocutaneous syndrome | AD | 45 | 21 |
MAP2K2 | Cardiofaciocutaneous syndrome | AD | 21 | 35 |
MATN3 | Spondyloepimetaphyseal dysplasia Matrilin type, Multiple epiphyseal dysplasia type 5 (EDM5) | AD/AR | 8 | 24 |
MBTPS2 | Keratosis follicularis spinulosa decalvans, IFAP syndrome, Palmoplantar keratoderma, mutilating, with periorificial keratotic plaques | XL | 10 | 24 |
MESP2 | Spondylocostal dysostosis 2, autosomal recessive | AR | 7 | 5 |
MGP | Keutel syndrome | AR | 5 | 7 |
MMP2 | Torg-Winchester syndrome, Multicentric osteolysis, nodulosis, and arthropathy | AR | 8 | 22 |
MMP9 | Metaphyseal anadysplasia | AR | 1 | 6 |
MMP13 | Metaphyseal anadysplasia 1, Metaphyseal dysplasia, Spahr type, Spondyloepimetaphyseal dysplasia, Missouri type | AD/AR | 7 | 6 |
MSX2 | Parietal foramina, Parietal foramina with cleidocranial dysplasia, Craniosynostosis Boston type | AD | 9 | 25 |
MYCN | Feingold syndrome | AD | 25 | 40 |
NANS | Spondyloepimetaphyseal dysplasiam Genevieve type | AR | 8 | 12 |
NEK1 | Short -rib thoracic dysplasia with or without polydactyly, SRPS type 2 (Majewski) | AR/Digenic | 21 | 20 |
NF1 | Watson syndrome, Neurofibromatosis, Neurofibromatosis-Noonan syndrome | AD | 810 | 2703 |
NFIX | Marshall-Smithsyndrome | AD | 43 | 65 |
NIPBL | Cornelia de Lange syndrome | AD | 290 | 419 |
NKX3-2 | Spondylo-megaepiphyseal-metaphyseal dysplasia | AR | 3 | 4 |
NOG | Tarsal-carpal coalition syndrome, Multiple synostosis syndrome, Stapes ankylosis with broad thumb and toes (Teunissen-Cremers syndrome), Symphalangism, proximal, Brachydactyly type B2 | AD | 20 | 62 |
NOTCH1 | Aortic valve disease | AD | 44 | 91 |
NOTCH2 | Alagille syndrome, Hajdu-Cheney syndrome | AD | 35 | 63 |
NPR2 | Acromesomelic dysplasia type Maroteaux, Epiphyseal chondrodysplasia, Miura, Short stature with nonspecific skeletal abnormalities | AD/AR | 30 | 67 |
NRAS | Noonan syndrome | AD | 31 | 14 |
NSD1 | Sotos syndrome, Weaver syndrome, Beckwith-Wiedemann syndrome | AD | 303 | 515 |
NSDHL | Congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD syndrome), CK syndrome | XL | 15 | 28 |
OBSL1 | 3-M syndrome | AR | 13 | 33 |
ORC1 | Meier-Gorlin syndrome (Ear-patella-short stature syndrome) | AR | 9 | 9 |
ORC4 | Meier-Gorlin syndrome (Ear-patella-short stature syndrome) | AR | 22 | 6 |
ORC6 | Meier-Gorlin syndrome (Ear-patella-short stature syndrome) | AR | 7 | 6 |
OSTM1 | Osteopetrosis, autosomal recessive 5 | AR | 5 | 9 |
OTX2 | Microphthalmia, syndromic, Pituitary hormone deficiency, combined, Retinal dystrophy, early-onset, and pituitary dysfunction | AD | 21 | 68 |
P3H1 | Osteogenesis imperfecta | AR | 15 | 55 |
PALB2 | Fanconi anemia, Pancreatic cancer, Breast cancer | AD/AR | 422 | 358 |
PAPSS2 | Brachyolmia 4 with mild epiphyseal and metaphyseal changes, SEMD PAPPS2 type | AR | 11 | 19 |
PCNT | Microcephalic osteodysplastic primordial dwarfism | AR | 48 | 84 |
PCYT1A | Spondylometaphyseal dysplasia with cone-rod dystrophy | AR | 12 | 20 |
PDE4D | Acrodysostosis 2, with or without hormone resistance | AD | 14 | 36 |
PEX7 | Refsum disease, Rhizomelic CDP type 1 | AR | 37 | 52 |
PEX14 | Peroxisome biogenesis factor disorder 14, Zellweger syndrome | AR | 5 | 4 |
PEX19 | Peroxisome biogenesis disorder, 19, Zellweger syndrome | AR | 3 | 3 |
PGM3 | Immunodeficiency 23 | AR | 13 | 14 |
PHEX | Hypophosphatemic rickets | XL | 262 | 428 |
PIK3CA | Cowden syndrome, CLOVES | AD | 86 | 53 |
PITX2 | Axenfeld-Rieger syndrome, Ring dermoid of cornea, Iridogoniodysgenesis, Peters anomaly | AD | 23 | 96 |
PLOD2 | Bruck syndrome, Osteogenesis imperfecta type 3 | AR | 8 | 17 |
PLS3 | Osteoporosis and osteoporotic fractures | XL | 1 | 14 |
POC1A | Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis (SOFT syndrome) | AR | 4 | 8 |
POLR1C | Treacher Collins syndrome | AR | 16 | 20 |
POLR1D | Treacher Collins syndrome | AD/AR | 8 | 26 |
POR | Disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency, Antley-Bixler syndrome | AR | 12 | 68 |
POU1F1 | Pituitary hormone deficiency, combined | AR | 19 | 41 |
PPIB | Osteogenesis imperfecta type 2, Osteogenesis imperfecta type 3, Osteogenesis imperfecta type 4 | AR | 8 | 13 |
PRKAR1A | Myxoma, intracardiac, Acrodysostosis, Pigmented nodular adrenocortical disease, Carney complex | AD | 66 | 180 |
PROP1 | Pituitary hormone deficiency, combined | AR | 27 | 37 |
PTDSS1 | Lenz-Majewski hyperostotic dwarfism | AD | 5 | 5 |
PTH1R | Metaphyseal chondrodysplasia Jansen type, Failure of tooth eruption, Eiken dysplasia, Blomstrand dysplasia | AD/AR | 13 | 40 |
PTHLH | Brachydactyly, type E2 | AD | 5 | 17 |
PTPN11 | Noonan syndrome, Metachondromatosis | AD | 128 | 139 |
PYCR1 | Cutis laxa AR type 2B | AR | 19 | 38 |
RAB33B | Dyggve-Melchior-Clausen syndrome, Smith-McCort dysplasia 2 | AR | 6 | 7 |
RAD21 | Cornelia de Lange syndrome 4 | AD | 9 | 11 |
RAD51C | Fanconi anemia, Breast-ovarian cancer, familial | AD/AR | 92 | 112 |
RAF1 | LEOPARD syndrome, Noonan syndrome, Dilated cardiomyopathy (DCM) | AD | 44 | 48 |
RASA2 | Noonan syndrome | AD | 1 | 3 |
RBBP8 | Seckel syndrome, Jawad syndrome | AR | 6 | 6 |
RBM8A | Thrombocytopenia - absent radius | AD/AR | 4 | 10 |
RBPJ | Adams-Oliver syndrome | AD | 4 | 5 |
RECQL4 | Baller-Gerold syndrome, RAPADILINO syndrome, Rothmund-Thomson syndrome | AR | 53 | 100 |
RIT1 | Noonan syndrome | AD | 20 | 25 |
RMRP | Cartilage-hair hypoplasia, Metaphyseal dysplasia without hypotrichosis, Anauxetic dysplasia | AR | 34 | 123 |
RNU4ATAC | Roifman syndrome, Microcephalic osteodysplastic primordial dwarfism type 1, Microcephalic osteodysplastic primordial dwarfism type 3 | AR | 15 | 21 |
ROR2 | Robinow syndrome recessive type, Brachydactyly type B | AD/AR | 19 | 40 |
RRAS | Noonan-syndrome like phenotype | AD/AR | | 2 |
RTTN | Microcephaly, short stature, and polymicrogyria with or without seizures | AR | 13 | 10 |
RUNX2 | Cleidocranial dysplasia, Metaphyseal dysplasia with maxillary hypoplasia | AD | 21 | 213 |
SALL1 | Townes-Brocks syndrome 1 | AD | 27 | 84 |
SALL4 | Acro-renal-ocular syndrome, Duane-radial ray/Okohiro syndrome | AD | 19 | 55 |
SBDS* | Aplastic anemia, Shwachman-Diamond syndrome, Severe spondylometaphyseal dysplasia | AD/AR | 21 | 90 |
SEC24D | Cole-Carpenter syndrome 2 | AR | 4 | 11 |
SERPINF1 | Osteogenesis imperfecta type 3, Osteogenesis imperfecta type 4 | AR | 9 | 35 |
SERPINH1 | Osteogenesis imperfecta type 3 | AR | 3 | 3 |
SETBP1 | Mental retardation, autosomal dominant 29, Schinzel-Giedion midface retraction syndrome | AD | 21 | 40 |
SF3B4 | Acrofacial dysostosis 1, Nager | AD | 27 | 36 |
SH3BP2 | Cherubism | AD | 9 | 16 |
SH3PXD2B | Frank-ter Haar syndrome | AR | 9 | 18 |
SHOC2 | Noonan-like syndrome with loose anagen hair | AD | 2 | 4 |
SHOX | Leri-Weill dyschondrosteosis, Langer mesomelic dysplasia, Short stature | XL/PAR | 25 | 426 |
SKI | Shprintzen-Goldberg syndrome | AD | 17 | 21 |
SLC26A2 | Diastrophic dysplasia, Atelosteogenesis type 2, De la Chapelle dysplasia, Recessive Multiple Epiphyseal dysplasia, Achondrogenesis type 1B | AR | 55 | 50 |
SLC29A3 | Histiocytosis-lymphadenopathy plus syndrome, Dysosteosclerosis | AR | 16 | 24 |
SLC34A3 | Hypophosphatemic rickets with hypercalciuria | AR | 22 | 36 |
SLC35D1 | Schneckenbecken dysplasia | AR | 7 | 7 |
SLC39A13 | Spondylodysplastic Ehlers-Danlos syndrome | AR | 2 | 8 |
SLCO2A1 | Hypertrophic osteoarthropathy | AD/AR | 13 | 71 |
SLX4 | Fanconi anemia | AR | 14 | 54 |
SMAD3 | Aneurysms-osteoarthritis syndrome, Loeys-Dietz syndrome | AD | 43 | 55 |
SMAD4 | Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, Polyposis, juvenile intestinal, Myhre dysplasia, Hereditary hemorrhagic telangiectasia | AD | 162 | 141 |
SMARCAL1 | Schimke immunoosseous dysplasia | AR | 17 | 88 |
SMC1A | Cornelia de Lange syndrome | XL | 56 | 87 |
SMC3 | Cornelia de Lange syndrome | AD | 21 | 20 |
SNX10 | Osteopetrosis, autosomal recessive 8 | AR | 3 | 13 |
SOS1 | Noonan syndrome | AD | 45 | 67 |
SOST | Craniodiaphyseal dysplasia, autosomal dominant, Sclerosteosis 1, van Buchem disease | AD/AR | 6 | 14 |
SOX2 | Microphthalmia, syndromic | AD | 31 | 100 |
SOX3 | Panhypopituitarism | XL | 4 | 25 |
SOX9 | Campomelic dysplasia, 46,XY sex reversal, Brachydactyly with anonychia (Cooks syndrome) | AD | 44 | 141 |
SP7 | Osteogenesis imperfecta, type XII | AR | 1 | 1 |
SPARC | Keratoconus, Osteogenesis imperfecta, type XVII | AD/AR | 2 | 3 |
SRCAP | Floating-Harbor syndrome | AD | 13 | 40 |
STAMBP | Microcephaly-capillary malformation syndrome | AR | 14 | 19 |
STAT5B | Growth hormone insensitivity with immunodeficiency | AR | 8 | 10 |
TBX3 | Ulnar-Mammary syndrome | AD | 6 | 20 |
TBX4 | Small patella syndrome | AD | 5 | 30 |
TBX5 | Holt-Oram syndrome | AD | 55 | 126 |
TBX6 | Spondylocostal dysostosis 5 | AD | 9 | 34 |
TBX15 | Cousin syndrome | AR | 2 | 3 |
TBX19 | Adrenocorticotropic hormone deficiency | AR | 8 | 27 |
TCF12 | Craniosynostosis | AD | 21 | 53 |
TCIRG1 | Osteopetrosis, severe neonatal or infantile forms (OPTB1) | AD/AR | 14 | 130 |
TCOF1 | Treacher Collins syndrome | AD | 42 | 320 |
TCTN3 | Orofaciodigital syndrome (Mohr-Majewski syndrome), Joubert syndrome | AR | 9 | 10 |
TGFB1 | Diaphyseal dysplasia Camurati-Engelmann | AD | 15 | 18 |
TGFB2 | Loeys-Dietz syndrome | AD | 34 | 28 |
TGFB3 | Loeys-Dietz syndrome (Reinhoff syndrome), Arrhythmogenic right ventricular dysplasia | AD | 17 | 22 |
TGFBR1 | Loeys-Dietz syndrome | AD | 37 | 69 |
TGFBR2 | Loeys-Dietz syndrome | AD | 58 | 136 |
TMEM38B | Osteogenesis imperfecta, type XIV | AR | 2 | 6 |
TNFRSF11A | Familial expansile osteolysis, Paget disease of bone, Osteopetrosis, severe neonatal or infantile forms (OPTB1) | AD/AR | 8 | 23 |
TNFRSF11B | Paget disease of bone, juvenile | AR | 8 | 18 |
TNFSF11 | Osteopetrosis, autosomal recessive 2 | AR | 3 | 5 |
TP63 | Rapp-Hodgkin syndrome, Orofacial cleft, ADULT syndrome, Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome, Ankyloblepharon-ectodermal defects-cleft lip/palate, Split-hand/foot malformation, Limb-mammary syndrome | AD | 55 | 116 |
TRAPPC2 | Spondyloepiphyseal dysplasia tarda | XL | 12 | 54 |
TRIM37 | Mulibrey nanism | AR | 19 | 21 |
TRIP11 | Achondrogenesis, type IA | AR | 7 | 13 |
TRPS1 | Trichorhinophalangeal syndrome type 1, Trichorhinophalangeal syndrome type 3 | AD | 59 | 139 |
TRPV4 | Metatropic dysplasia, Spondyloepiphyseal dysplasia Maroteaux type, Parastremmatic dwarfism, Hereditary motor and sensory neuropathy, Spondylometaphyseal dysplasia Kozlowski type, Spinal muscular atrophy, Charcot-Marie-Tooth disease, Brachyolmia (autosomal dominant type), Familial Digital arthropathy with brachydactyly | AD | 60 | 76 |
TTC21B | Short-rib thoracic dysplasia, Nephronophthisis, Asphyxiating thoracic dysplasia (ATD; Jeune) | AR | 17 | 53 |
TWIST1 | Saethre-Chotzen syndrome, Robinow-Sorauf syndrome, Craniosynostosis | AD | 20 | 203 |
TYROBP | Nasu-Hakola disease, Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy | AR | 8 | 14 |
VDR | Vitamin D-dependent rickets | AD/AR | 17 | 65 |
VIPAS39 | Arthrogryposis, renal dysfunction, and cholestasis 2 | AR | 8 | 13 |
WDR19 | Retinitis pigmentosa, Nephronophthisis, Short -rib thoracic dysplasia with or without polydactyly, Senior-Loken syndrome, Cranioectodermal dysplasia (Levin-Sensenbrenner) type 1, Cranioectodermal dysplasia (Levin-Sensenbrenner) type 2, Asphyxiating thoracic dysplasia (ATD; Jeune) | AD/AR | 30 | 28 |
WDR34 | Short -rib thoracic dysplasia with or without polydactyly, Asphyxiating thoracic dysplasia (ATD; Jeune) | AR | 16 | 15 |
WDR35 | Cranioectodermal dysplasia (Levin-Sensenbrenner) type 1, Cranioectodermal dysplasia (Levin-Sensenbrenner) type 2, Short rib-polydactyly syndrome type 5 | AR | 26 | 28 |
WDR60 | Short-rib thoracic dysplasia 8 with or without polydactyly | AR | 10 | 5 |
WISP3 | Arthropathy, progressive pseudorheumatoid, of childhood, Spondyloepiphyseal dysplasia tarda with progressive arthropathy | AR | 16 | 69 |
WNT1 | Osteoprosis, autosomal dominant, Osteogenesis imperfecta, type XV | AD/AR | 8 | 27 |
WNT5A | Robinow syndrome | AD | 8 | 10 |
WNT7A | Ulna and fibula, absence of, with severe limb deficiency (Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome), Fuhrmann syndrome | AR | 6 | 11 |
XRCC2 | Hereditary breast cancer | AD/AR | 10 | 20 |
XRCC4 | Short stature, microcephaly, and endocrine dysfunction | AR | 9 | 11 |
XYLT1 | Desbuquois dysplasia 2 | AR | 10 | 16 |