TaoMedAI/RareMedData huggingface dataset:
Gene: TSC2
Disease: Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis; PKDTS; TSC2/PKD1 contiguous gene syndrome; Tuberous sclerosis/polycystic kidney disease contiguous gene syndrome (ORPHA:88924)
Association type: UNKNOWN
Gene: AXIN2
Disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Association type: MENDELIAN
Gene: AXIN2
Disease: FAMILIAL ADENOMATOUS POLYPOSIS 2 (OMIM:608456)
Association type: MENDELIAN
Gene: AXIN2
Disease: COLORECTAL CANCER (OMIM:114500)
Association type: MENDELIAN
Gene: AXIN2
Disease: OLIGODONTIA-COLORECTAL CANCER SYNDROME (OMIM:608615)
Association type: MENDELIAN
Gene: AXIN2
Disease: AXIN2-related attenuated familial adenomatous polyposis; AXIN2-related AFAP; AXIN2-related attenuated FAP; AXIN2-related attenuated familial polyposis coli (ORPHA:401911)
Association type: UNKNOWN
Gene: CDH1
Disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Association type: MENDELIAN
Gene: CDH1
Disease: ENDOMETRIAL CANCER (OMIM:608089)
Association type: MENDELIAN
Gene: CDH1
Disease: FAMILIAL ADENOMATOUS POLYPOSIS 2 (OMIM:608456)
Association type: MENDELIAN
Gene: CDH1
Disease: BREAST CANCER (OMIM:114480)
Association type: MENDELIAN
Gene: CDH1
Disease: OVARIAN CANCER (OMIM:167000)
Association type: MENDELIAN
Gene: CDH1
Disease: GASTRIC CANCER, HEREDITARY DIFFUSE (OMIM:137215)
Association type: MENDELIAN
Gene: CDH1
Disease: BLEPHAROCHEILODONTIC SYNDROME 1 (OMIM:119580)
Association type: MENDELIAN
Gene: CDH1
Disease: Cleft lip/palate; Alveolar cleft lip and palate; Cleft lip and palate; Cleft lip-alveolus-palate syndrome; FLP (ORPHA:199306)
Association type: UNKNOWN
Gene: CDH1
Disease: Hereditary diffuse gastric cancer; FDGC; Familial diffuse cancer of stomach; Familial diffuse gastric cancer; HDGC; Hereditary diffuse cancer of stomach; Hereditary diffuse gastric adenocarcinoma (ORPHA:26106)
Association type: UNKNOWN
Gene: CDH1
Disease: Hereditary breast cancer; Familial breast cancer; Familial breast carcinoma; Hereditary breast carcinoma (ORPHA:227535)
Association type: UNKNOWN
Gene: CDH1
Disease: Familial prostate cancer (ORPHA:1331)
Association type: UNKNOWN
Gene: CDH1
Disease: Blepharo-cheilo-odontic syndrome; BCD syndrome; Blepharocheilodontic syndrome; Clefting-ectropion-conical teeth syndrome; Ectropion inferior-cleft lip and/or palate syndrome; Elschnig syndrome; Lagophthalmia-cleft lip and palate syndrome (ORPHA:1997)
Association type: UNKNOWN
Gene: MBD4
Disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Association type: MENDELIAN
Gene: MBD4
Disease: FAMILIAL ADENOMATOUS POLYPOSIS 2 (OMIM:608456)
Association type: MENDELIAN
Gene: MBD4
Disease: TUMOR PREDISPOSITION SYNDROME 2 (OMIM:619975)
Association type: MENDELIAN
Gene: MBD4
Disease: MELANOMA, UVEAL, SUSCEPTIBILITY TO, 1 (OMIM:606660)
Association type: POLYGENIC
Gene: MBD4
Disease: MBD4-related tumor predisposition syndrome (ORPHA:661526)
Association type: UNKNOWN
Gene: STK11
Disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Association type: MENDELIAN
Gene: STK11
Disease: TESTICULAR GERM CELL TUMOR (OMIM:273300)
Association type: MENDELIAN
Gene: STK11
Disease: FAMILIAL ADENOMATOUS POLYPOSIS 2 (OMIM:608456)
Association type: MENDELIAN
Gene: STK11
Disease: PANCREATIC CANCER (OMIM:260350)
Association type: MENDELIAN
Gene: STK11
Disease: PEUTZ-JEGHERS SYNDROME (OMIM:175200)
Association type: MENDELIAN
Gene: STK11
Disease: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 1 (OMIM:155600)
Association type: MENDELIAN
Gene: STK11
Disease: Peutz-Jeghers syndrome; Hamartomatous intestinal polyposis; PJS (ORPHA:2869)
Association type: UNKNOWN
Gene: POLE
Disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Association type: MENDELIAN
Gene: POLE
Disease: FACIAL DYSMORPHISM, IMMUNODEFICIENCY, LIVEDO, AND SHORT STATURE (OMIM:615139)
Association type: MENDELIAN
Gene: POLE
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 12 (OMIM:615083)
Association type: POLYGENIC
Gene: POLE
Disease: FAMILIAL ADENOMATOUS POLYPOSIS 2 (OMIM:608456)
Association type: MENDELIAN
Gene: POLE
Disease: INTRAUTERINE GROWTH RETARDATION, METAPHYSEAL DYSPLASIA, ADRENAL HYPOPLASIA CONGENITA, GENITAL ANOMALIES, AND IMMUNODEFICIENCY (OMIM:618336)
Association type: MENDELIAN
Gene: POLE
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: POLE
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: POLE
Disease: Facial dysmorphism-immunodeficiency-livedo-short stature syndrome; FILS syndrome (ORPHA:352712)
Association type: UNKNOWN
Gene: POLE
Disease: Familial colorectal cancer Type X; FCCTX (ORPHA:440437)
Association type: UNKNOWN
Gene: POLE
Disease: IMAGe syndrome; Intrauterine growth retardation-metaphyseal dysplasia-adrenal hypoplasia congenita-genital anomalies syndrome (ORPHA:85173)
Association type: UNKNOWN
Gene: POLE
Disease: Polymerase proofreading-related adenomatous polyposis; PPAP (ORPHA:447877)
Association type: UNKNOWN
Gene: TSC1
Disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Association type: MENDELIAN
Gene: TSC1
Disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Association type: MENDELIAN
Gene: TSC1
Disease: FAMILIAL ADENOMATOUS POLYPOSIS 2 (OMIM:608456)
Association type: MENDELIAN
Gene: TSC1
Disease: TETRALOGY OF FALLOT (OMIM:187500)
Association type: MENDELIAN
Gene: TSC1
Disease: FOCAL CORTICAL DYSPLASIA, TYPE II (OMIM:607341)
Association type: MENDELIAN
Gene: TSC1
Disease: LYMPHANGIOLEIOMYOMATOSIS (OMIM:606690)
Association type: MENDELIAN
Gene: TSC1
Disease: TUBEROUS SCLEROSIS 1 (OMIM:191100)
Association type: MENDELIAN
Gene: TSC1
Disease: Adult hepatocellular carcinoma; Adult HCC (ORPHA:210159)
Association type: UNKNOWN
Gene: TSC1
Disease: Isolated focal cortical dysplasia type IIb; FCD type IIb (ORPHA:269008)
Association type: UNKNOWN
Gene: TSC1
Disease: Tuberous sclerosis complex; Bourneville syndrome; Tuberous sclerosis (ORPHA:805)
Association type: UNKNOWN
Gene: TSC1
Disease: Lymphangioleiomyomatosis; LAM (ORPHA:538)
Association type: UNKNOWN
Gene: GREM1
Disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Association type: MENDELIAN
Gene: GREM1
Disease: FAMILIAL ADENOMATOUS POLYPOSIS 2 (OMIM:608456)
Association type: MENDELIAN
Gene: GREM1
Disease: Hereditary mixed polyposis syndrome; HMPS (ORPHA:157794)
Association type: UNKNOWN
Gene: EPCAM
Disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Association type: MENDELIAN
Gene: EPCAM
Disease: FAMILIAL ADENOMATOUS POLYPOSIS 2 (OMIM:608456)
Association type: MENDELIAN
Gene: EPCAM
Disease: DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL (OMIM:613217)
Association type: MENDELIAN
Gene: EPCAM
Disease: COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 8 (OMIM:613244)
Association type: MENDELIAN
Gene: EPCAM
Disease: Lynch syndrome (ORPHA:144)
Association type: UNKNOWN
Gene: EPCAM
Disease: Congenital tufting enteropathy; IED; Intestinal epithelial dysplasia; Non-syndromic congenital tufting enteropathy (ORPHA:92050)
Association type: UNKNOWN
Gene: BMPR1A
Disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Association type: MENDELIAN
Gene: BMPR1A
Disease: POLYPOSIS SYNDROME, HEREDITARY MIXED, 2 (OMIM:610069)
Association type: MENDELIAN
Gene: BMPR1A
Disease: FAMILIAL ADENOMATOUS POLYPOSIS 2 (OMIM:608456)
Association type: MENDELIAN
Gene: BMPR1A
Disease: Generalized juvenile polyposis/juvenile polyposis coli (ORPHA:329971)
Association type: UNKNOWN
Gene: BMPR1A
Disease: Juvenile polyposis of infancy; Infantile juvenile polyposis syndrome (ORPHA:79076)
Association type: UNKNOWN
Gene: BMPR1A
Disease: Hereditary mixed polyposis syndrome; HMPS (ORPHA:157794)
Association type: UNKNOWN
Gene: BMPR1A
Disease: Familial colorectal cancer Type X; FCCTX (ORPHA:440437)
Association type: UNKNOWN
Gene: MSH2
Disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Association type: MENDELIAN
Gene: MSH2
Disease: MUIR-TORRE SYNDROME (OMIM:158320)
Association type: MENDELIAN
Gene: MSH2
Disease: FAMILIAL ADENOMATOUS POLYPOSIS 2 (OMIM:608456)
Association type: MENDELIAN
Gene: MSH2
Disease: MISMATCH REPAIR CANCER SYNDROME 2 (OMIM:619096)
Association type: MENDELIAN
Gene: MSH2
Disease: LYNCH SYNDROME I (OMIM:120435)
Association type: MENDELIAN
Gene: MSH2
Disease: Lynch syndrome (ORPHA:144)
Association type: UNKNOWN
Gene: MSH2
Disease: Constitutional mismatch repair deficiency syndrome; CMMR-D syndrome (ORPHA:252202)
Association type: UNKNOWN
Gene: MLH3
Disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Association type: MENDELIAN
Gene: MLH3
Disease: ENDOMETRIAL CANCER (OMIM:608089)
Association type: POLYGENIC
Gene: MLH3
Disease: COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 7 (OMIM:614385)
Association type: MENDELIAN
Gene: MLH3
Disease: FAMILIAL ADENOMATOUS POLYPOSIS 2 (OMIM:608456)
Association type: MENDELIAN
Gene: MLH3
Disease: COLORECTAL CANCER (OMIM:114500)
Association type: MENDELIAN
Gene: CTNNA1
Disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Association type: MENDELIAN
Gene: CTNNA1
Disease: FAMILIAL ADENOMATOUS POLYPOSIS 2 (OMIM:608456)
Association type: MENDELIAN
Gene: CTNNA1
Disease: MACULAR DYSTROPHY, PATTERNED, 2 (OMIM:608970)
Association type: MENDELIAN
Gene: CTNNA1
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: CTNNA1
Disease: Butterfly-shaped pigment dystrophy; Butterfly-shaped pattern dystrophy; Butterfly-shaped pigmentary macular dystrophy (ORPHA:99001)
Association type: UNKNOWN
Gene: CTNNA1
Disease: Hereditary diffuse gastric cancer; FDGC; Familial diffuse cancer of stomach; Familial diffuse gastric cancer; HDGC; Hereditary diffuse cancer of stomach; Hereditary diffuse gastric adenocarcinoma (ORPHA:26106)
Association type: UNKNOWN
Gene: APC
Disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Association type: MENDELIAN
Gene: APC
Disease: DESMOID DISEASE, HEREDITARY (OMIM:135290)
Association type: MENDELIAN
Gene: APC
Disease: GASTRIC ADENOCARCINOMA AND PROXIMAL POLYPOSIS OF THE STOMACH (OMIM:619182)
Association type: MENDELIAN
Gene: APC
Disease: FAMILIAL ADENOMATOUS POLYPOSIS 2 (OMIM:608456)
Association type: MENDELIAN
Gene: APC
Disease: FAMILIAL ADENOMATOUS POLYPOSIS 1 (OMIM:175100)
Association type: MENDELIAN
Gene: APC
Disease: COLORECTAL CANCER (OMIM:114500)
Association type: MENDELIAN
Gene: APC
Disease: HEPATOCELLULAR CARCINOMA (OMIM:114550)
Association type: MENDELIAN
Gene: APC
Disease: GASTRIC CANCER (OMIM:613659)
Association type: MENDELIAN
Gene: APC
Disease: Attenuated familial adenomatous polyposis; AFAP; Attenuated FAP; Attenuated familial polyposis coli (ORPHA:220460)
Association type: UNKNOWN
Gene: APC
Disease: Cenani-Lenz syndrome; Cenani syndactyly; Cenani-Lenz syndactyly; Syndactyly type 7 (ORPHA:3258)
Association type: UNKNOWN
Gene: APC
Disease: Gastric adenocarcinoma and proximal polyposis of the stomach; Familial fundic gland polyposis with gastric cancer; GAPPS (ORPHA:314022)
Association type: UNKNOWN
Gene: APC
Disease: Familial adenomatous polyposis due to 5q22.2 microdeletion; Colorectal adenomatous polyposis due to monosomy 5q22.2; FAP due to monosomy 5q22.2; Familial adenomatous polyposis due to del(5)(q22.2); Familial adenomatous polyposis due to monosomy 5q22.2; Familial polyposis coli due to monosomy 5q22.2 (ORPHA:261584)
Association type: UNKNOWN
Gene: APC
Disease: Desmoid tumor; Aggressive fibromatosis; Desmoid type fibromatosis (ORPHA:873)
Association type: UNKNOWN
Gene: PTEN
Disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Association type: MENDELIAN
Gene: PTEN
Disease: MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO (OMIM:607174)
Association type: POLYGENIC
Gene: PTEN
Disease: GLIOMA SUSCEPTIBILITY 2 (OMIM:613028)
Association type: POLYGENIC
Gene: PTEN
Disease: FAMILIAL ADENOMATOUS POLYPOSIS 2 (OMIM:608456)
Association type: MENDELIAN
Gene: PTEN
Disease: COWDEN SYNDROME 1 (OMIM:158350)
Association type: MENDELIAN
Gene: PTEN
Disease: PROSTATE CANCER (OMIM:176807)
Association type: MENDELIAN
Gene: PTEN
Disease: MACROCEPHALY/AUTISM SYNDROME (OMIM:605309)
Association type: MENDELIAN
Gene: PTEN
Disease: Cowden syndrome; Cowden disease; Multiple hamartoma syndrome (ORPHA:201)
Association type: UNKNOWN
Gene: PTEN
Disease: Hereditary breast and/or ovarian cancer syndrome (ORPHA:145)
Association type: UNKNOWN
Gene: PTEN
Disease: Bannayan-Riley-Ruvalcaba syndrome; BRRS; Myhre-Riley-Smith syndrome (ORPHA:109)
Association type: UNKNOWN
Gene: PTEN
Disease: Squamous cell carcinoma of the hypopharynx (ORPHA:494547)
Association type: UNKNOWN
Gene: PTEN
Disease: Squamous cell carcinoma of the larynx (ORPHA:494550)
Association type: UNKNOWN
Gene: PTEN
Disease: Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome; SOLAMEN syndrome (ORPHA:137608)
Association type: UNKNOWN
Gene: PTEN
Disease: Lhermitte-Duclos disease; Dysplastic gangliocytoma of the cerebellum; LDD (ORPHA:65285)
Association type: UNKNOWN
Gene: PTEN
Disease: Macrocephaly-intellectual disability-autism syndrome (ORPHA:210548)
Association type: UNKNOWN
Gene: PTEN
Disease: Juvenile polyposis of infancy; Infantile juvenile polyposis syndrome (ORPHA:79076)
Association type: UNKNOWN
Gene: PTEN
Disease: Proteus-like syndrome (ORPHA:2969)
Association type: UNKNOWN
Gene: PTEN
Disease: Squamous cell carcinoma of the oral cavity (ORPHA:502363)
Association type: UNKNOWN
Gene: PTEN
Disease: Squamous cell carcinoma of the lip (ORPHA:502366)
Association type: UNKNOWN
Gene: PTEN
Disease: Squamous cell carcinoma of the oropharynx (ORPHA:500478)
Association type: UNKNOWN
Gene: PTEN
Disease: Squamous cell carcinoma of the nasal cavity and paranasal sinuses; Squamous cell carcinoma of the nasal cavity and sinuses (ORPHA:500464)
Association type: UNKNOWN
Gene: SMAD4
Disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Association type: MENDELIAN
Gene: SMAD4
Disease: FAMILIAL ADENOMATOUS POLYPOSIS 2 (OMIM:608456)
Association type: MENDELIAN
Gene: SMAD4
Disease: MYHRE SYNDROME (OMIM:139210)
Association type: MENDELIAN
Gene: SMAD4
Disease: PANCREATIC CANCER (OMIM:260350)
Association type: MENDELIAN
Gene: SMAD4
Disease: JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME (OMIM:175050)
Association type: MENDELIAN
Gene: SMAD4
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: SMAD4
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: SMAD4
Disease: Generalized juvenile polyposis/juvenile polyposis coli (ORPHA:329971)
Association type: UNKNOWN
Gene: SMAD4
Disease: Myhre syndrome; Facial dysmorphism-intellectual disability-short stature-deafness syndrome; Facial dysmorphism-intellectual disability-short stature-hearing loss syndrome; Myhre-LAPS syndrome; Myhre-Laryngotracheal stenosis-arthropathy-prognathism-short stature syndrome (ORPHA:2588)
Association type: UNKNOWN
Gene: SMAD4
Disease: Familial pancreatic carcinoma; Familial pancreatic cancer (ORPHA:1333)
Association type: UNKNOWN
Gene: SMAD4
Disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Association type: UNKNOWN
Gene: SMAD4
Disease: Hereditary hemorrhagic telangiectasia; HHT; Rendu-Osler disease; Rendu-Osler-Weber disease (ORPHA:774)
Association type: UNKNOWN
Gene: RNF43
Disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Association type: MENDELIAN
Gene: RNF43
Disease: FAMILIAL ADENOMATOUS POLYPOSIS 2 (OMIM:608456)
Association type: MENDELIAN
Gene: RNF43
Disease: SESSILE SERRATED POLYPOSIS CANCER SYNDROME (OMIM:617108)
Association type: MENDELIAN
Gene: RNF43
Disease: Serrated polyposis syndrome; Hyperplastic polyposis syndrome (ORPHA:157798)
Association type: UNKNOWN
Gene: MUTYH
Disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Association type: MENDELIAN
Gene: MUTYH
Disease: FAMILIAL ADENOMATOUS POLYPOSIS 2 (OMIM:608456)
Association type: MENDELIAN
Gene: MUTYH
Disease: GASTRIC CANCER (OMIM:613659)
Association type: MENDELIAN
Gene: MUTYH
Disease: MUTYH-related attenuated familial adenomatous polyposis; MUTYH-related AFAP; MUTYH-related attenuated FAP; MUTYH-related attenuated familial polyposis coli (ORPHA:247798)
Association type: UNKNOWN
Gene: MUTYH
Disease: Familial colorectal cancer Type X; FCCTX (ORPHA:440437)
Association type: UNKNOWN
Gene: COL2A1
Disease: SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE (OMIM:616583)
Association type: MENDELIAN
Gene: COL2A1
Disease: SPONDYLOMETAPHYSEAL DYSPLASIA, CORNER FRACTURE TYPE (OMIM:184255)
Association type: MENDELIAN
Gene: COL2A1
Disease: SPONDYLOMETAPHYSEAL DYSPLASIA, ALGERIAN TYPE (OMIM:184253)
Association type: MENDELIAN
Gene: COL2A1
Disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, STRUDWICK TYPE (OMIM:184250)
Association type: MENDELIAN
Gene: COL2A1
Disease: CZECH DYSPLASIA (OMIM:609162)
Association type: MENDELIAN
Gene: COL2A1
Disease: MARSHALL SYNDROME (OMIM:154780)
Association type: MENDELIAN
Gene: COL2A1
Disease: VITREORETINOPATHY WITH PHALANGEAL EPIPHYSEAL DYSPLASIA (OMIM:619248)
Association type: MENDELIAN
Gene: COL2A1
Disease: OSTEOARTHRITIS WITH MILD CHONDRODYSPLASIA (OMIM:604864)
Association type: MENDELIAN
Gene: COL2A1
Disease: PLATYSPONDYLIC LETHAL SKELETAL DYSPLASIA, TORRANCE TYPE (OMIM:151210)
Association type: MENDELIAN
Gene: COL2A1
Disease: ACHONDROGENESIS, TYPE II (OMIM:200610)
Association type: MENDELIAN
Gene: COL2A1
Disease: OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:184840)
Association type: MENDELIAN
Gene: COL2A1
Disease: STICKLER SYNDROME, TYPE I (OMIM:108300)
Association type: MENDELIAN
Gene: COL2A1
Disease: STICKLER SYNDROME, TYPE I, NONSYNDROMIC OCULAR (OMIM:609508)
Association type: MENDELIAN
Gene: COL2A1
Disease: AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY, 1 (OMIM:608805)
Association type: MENDELIAN
Gene: COL2A1
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: COL2A1
Disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND CONDUCTIVE DEAFNESS (OMIM:132450)
Association type: MENDELIAN
Gene: COL2A1
Disease: SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA (OMIM:183900)
Association type: MENDELIAN
Gene: COL2A1
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: COL2A1
Disease: KNIEST DYSPLASIA (OMIM:156550)
Association type: MENDELIAN
Gene: COL2A1
Disease: WAGNER VITREORETINOPATHY (OMIM:143200)
Association type: MENDELIAN
Gene: COL2A1
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: COL2A1
Disease: LEGG-CALVE-PERTHES DISEASE (OMIM:150600)
Association type: MENDELIAN
Gene: COL2A1
Disease: SPONDYLOPERIPHERAL DYSPLASIA (OMIM:271700)
Association type: MENDELIAN
Gene: COL2A1
Disease: Stickler syndrome type 1 (ORPHA:90653)
Association type: UNKNOWN
Gene: COL2A1
Disease: Autosomal dominant rhegmatogenous retinal detachment (ORPHA:209867)
Association type: UNKNOWN
Gene: COL2A1
Disease: Spondyloepiphyseal dysplasia with metatarsal shortening; Czech dysplasia, metatarsal type; SED with metatarsal shortening (ORPHA:137678)
Association type: UNKNOWN
Gene: COL2A1
Disease: Autosomal dominant otospondylomegaepiphyseal dysplasia; AD OSMED; Stickler syndrome type 3; Stickler syndrome, non-ocular type (ORPHA:166100)
Association type: UNKNOWN
Gene: COL2A1
Disease: Familial avascular necrosis of femoral head; Familial osteonecrosis of the femoral head (ORPHA:86820)
Association type: UNKNOWN
Gene: COL2A1
Disease: Spondyloperipheral dysplasia-short ulna syndrome (ORPHA:1856)
Association type: UNKNOWN
Gene: COL2A1
Disease: Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis (ORPHA:93279)
Association type: UNKNOWN
Gene: COL2A1
Disease: Legg-Calvé-Perthes disease; Aseptic necrosis of the capital femoral epiphysis; Osteochondrosis of the capital femoral epiphysis; Perthes disease (ORPHA:2380)
Association type: UNKNOWN
Gene: COL2A1
Disease: Achondrogenesis type 2; Achondrogenesis, Langer-Saldino type (ORPHA:93296)
Association type: UNKNOWN
Gene: COL2A1
Disease: Hypochondrogenesis (ORPHA:93297)
Association type: UNKNOWN
Gene: COL2A1
Disease: Spondylometaphyseal dysplasia, 'corner fracture' type; Spondylometaphyseal dysplasia, Sutcliffe type (ORPHA:93315)
Association type: UNKNOWN
Gene: COL2A1
Disease: Spondylometaphyseal dysplasia, Schmidt type; Spondylometaphyseal dysplasia with severe genu valgum; Spondylometaphyseal dysplasia, Algerian type (ORPHA:93316)
Association type: UNKNOWN
Gene: COL2A1
Disease: Spondyloepimetaphyseal dysplasia congenita, Strudwick type (ORPHA:93346)
Association type: UNKNOWN
Gene: COL2A1
Disease: Dysspondyloenchondromatosis (ORPHA:85198)
Association type: UNKNOWN
Gene: COL2A1
Disease: Spondyloepiphyseal dysplasia, Stanescu type; SED, Stanescu type (ORPHA:459051)
Association type: UNKNOWN
Gene: COL2A1
Disease: Kniest dysplasia (ORPHA:485)
Association type: UNKNOWN
Gene: COL2A1
Disease: Spondyloepiphyseal dysplasia congenita; Congenital spondyloepiphyseal dysplasia; SEDC; Spranger-Wiedemann disease (ORPHA:94068)
Association type: UNKNOWN
Gene: COL2A1
Disease: Platyspondylic dysplasia, Torrance type; PLSD-T; Platyspondylic dysplasia, Torrance-Luton type; Platyspondylic lethal skeletal dysplasia, Torrance type (ORPHA:85166)
Association type: UNKNOWN
Gene: DLL4
Disease: ADAMS-OLIVER SYNDROME 6 (OMIM:616589)
Association type: MENDELIAN
Gene: DLL4
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: DLL4
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: DLL4
Disease: Adams-Oliver syndrome; AOS; Aplasia cutis congenita with distal limb anomalies; Aplasia cutis congenita with terminal transverse limb defects; Congenital scalp defects with distal limb anomalies; Congenital scalp defects with distal limb reduction anomalies (ORPHA:974)
Association type: UNKNOWN
Gene: DLL4
Disease: Aplasia cutis congenita (ORPHA:1114)
Association type: UNKNOWN
Gene: FGFR3
Disease: HYPOCHONDROPLASIA (OMIM:146000)
Association type: MENDELIAN
Gene: FGFR3
Disease: NEVUS, EPIDERMAL (OMIM:162900)
Association type: MENDELIAN
Gene: FGFR3
Disease: ACHONDROPLASIA, SEVERE, WITH DEVELOPMENTAL DELAY AND ACANTHOSIS NIGRICANS (OMIM:616482)
Association type: MENDELIAN
Gene: FGFR3
Disease: ACHONDROPLASIA (OMIM:100800)
Association type: MENDELIAN
Gene: FGFR3
Disease: LACRIMOAURICULODENTODIGITAL SYNDROME 2 (OMIM:620192)
Association type: MENDELIAN
Gene: FGFR3
Disease: TESTICULAR GERM CELL TUMOR (OMIM:273300)
Association type: MENDELIAN
Gene: FGFR3
Disease: CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME (OMIM:610474)
Association type: MENDELIAN
Gene: FGFR3
Disease: CERVICAL CANCER (OMIM:603956)
Association type: MENDELIAN
Gene: FGFR3
Disease: BLADDER CANCER (OMIM:109800)
Association type: MENDELIAN
Gene: FGFR3
Disease: THANATOPHORIC DYSPLASIA, TYPE II (OMIM:187601)
Association type: MENDELIAN
Gene: FGFR3
Disease: THANATOPHORIC DYSPLASIA, TYPE I (OMIM:187600)
Association type: MENDELIAN
Gene: FGFR3
Disease: COLORECTAL CANCER (OMIM:114500)
Association type: MENDELIAN
Gene: FGFR3
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: FGFR3
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: FGFR3
Disease: MUENKE SYNDROME (OMIM:602849)
Association type: MENDELIAN
Gene: FGFR3
Disease: CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (OMIM:612247)
Association type: MENDELIAN
Gene: FGFR3
Disease: Achondroplasia (ORPHA:15)
Association type: UNKNOWN
Gene: FGFR3
Disease: Giant cell glioblastoma (ORPHA:251579)
Association type: UNKNOWN
Gene: FGFR3
Disease: Gliosarcoma (ORPHA:251576)
Association type: UNKNOWN
Gene: FGFR3
Disease: Non-syndromic bicoronal craniosynostosis; Isolated bicoronal craniosynostosis; Isolated brachycephaly; Non-syndromic bilateral coronal suture synostosis (ORPHA:35099)
Association type: UNKNOWN
Gene: FGFR3
Disease: Muenke syndrome (ORPHA:53271)
Association type: UNKNOWN
Gene: FGFR3
Disease: Thanatophoric dysplasia type 1; TD1; Thanatophoric dwarfism type 1 (ORPHA:1860)
Association type: UNKNOWN
Gene: FGFR3
Disease: Saethre-Chotzen syndrome; ACS3; Acrocephalosyndactyly type 3; SCS (ORPHA:794)
Association type: UNKNOWN
Gene: FGFR3
Disease: Thanatophoric dysplasia type 2; Cloverleaf skull-micromelic bone dysplasia syndrome; TD2; Thanatophoric dwarfism type 2; Thanatophoric dwarfism-cloverleaf skull syndrome (ORPHA:93274)
Association type: UNKNOWN
Gene: FGFR3
Disease: Crouzon syndrome-acanthosis nigricans syndrome; Crouzon-dermoskeletal syndrome (ORPHA:93262)
Association type: UNKNOWN