TaoMedAI/RareMedData huggingface dataset:
Gene: SOX10
Disease: Waardenburg-Shah syndrome; Shah-Waardenburg syndrome; WS4; Waardenburg syndrome type 4; Waardenburg-Hirschsprung syndrome (ORPHA:897)
Association type: UNKNOWN
Gene: SOX10
Disease: Waardenburg syndrome type 2; WS2; Waardenburg syndrome type II (ORPHA:895)
Association type: UNKNOWN
Gene: SOX10
Disease: Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease; Neurologic Waardenburg-Shah syndrome; PCWH; WS4 plus (ORPHA:163746)
Association type: UNKNOWN
Gene: SOX10
Disease: Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia; Olfacto-genital pathological sequence (ORPHA:478)
Association type: UNKNOWN
Gene: AP1S1
Disease: MENTAL RETARDATION, ENTEROPATHY, DEAFNESS, PERIPHERAL NEUROPATHY, ICHTHYOSIS, AND KERATODERMA (OMIM:609313)
Association type: MENDELIAN
Gene: AP1S1
Disease: MEDNIK syndrome; Intellectual disability-enteropathy-deafness-peripheral neuropathy-ichthyosis-keratodermia syndrome; Intellectual disability-enteropathy-hearing loss-peripheral neuropathy-ichthyosis-keratodermia syndrome (ORPHA:171851)
Association type: UNKNOWN
Gene: FGD4
Disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4H (OMIM:609311)
Association type: MENDELIAN
Gene: FGD4
Disease: Charcot-Marie-Tooth disease type 4H; CMT4H (ORPHA:99954)
Association type: UNKNOWN
Gene: ALDH5A1
Disease: SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY (OMIM:271980)
Association type: MENDELIAN
Gene: ALDH5A1
Disease: Succinic semialdehyde dehydrogenase deficiency; 4-hydroxybutyric aciduria; Gamma-hydroxybutyric aciduria; SSADH deficiency (ORPHA:22)
Association type: UNKNOWN
Gene: FN1
Disease: SPONDYLOMETAPHYSEAL DYSPLASIA, CORNER FRACTURE TYPE (OMIM:184255)
Association type: MENDELIAN
Gene: FN1
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: FN1
Disease: GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2 (OMIM:601894)
Association type: MENDELIAN
Gene: FN1
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: FN1
Disease: Fibronectin glomerulopathy; GFND; Glomerulopathy with fibronectin deposits (ORPHA:84090)
Association type: UNKNOWN
Gene: FN1
Disease: Spondylometaphyseal dysplasia, 'corner fracture' type; Spondylometaphyseal dysplasia, Sutcliffe type (ORPHA:93315)
Association type: UNKNOWN
Gene: DIS3L2
Disease: PERLMAN SYNDROME (OMIM:267000)
Association type: MENDELIAN
Gene: DIS3L2
Disease: Perlman syndrome; Nephroblastomatosis-fetal ascites-macrosomia-Wilms tumor syndrome (ORPHA:2849)
Association type: UNKNOWN
Gene: DIS3L2
Disease: Nephroblastoma; Renal embryonic tumor; Wilms tumor (ORPHA:654)
Association type: UNKNOWN
Gene: POMT1
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 1 (OMIM:609308)
Association type: MENDELIAN
Gene: POMT1
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1 (OMIM:236670)
Association type: MENDELIAN
Gene: POMT1
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL IMPAIRMENT), TYPE B, 1 (OMIM:613155)
Association type: MENDELIAN
Gene: POMT1
Disease: Congenital muscular dystrophy with intellectual disability; CMD with intellectual disability; CMD-MR (ORPHA:370968)
Association type: UNKNOWN
Gene: POMT1
Disease: Congenital muscular dystrophy without intellectual disability; CMD without intellectual disability; CMD-no MR; Congenital muscular dystrophy-dystroglycanopathy without intellectual disability (ORPHA:370980)
Association type: UNKNOWN
Gene: POMT1
Disease: Congenital muscular dystrophy with cerebellar involvement; CMD with cerebellar involvement; CMD-CRB (ORPHA:370959)
Association type: UNKNOWN
Gene: POMT1
Disease: Walker-Warburg syndrome; HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; WWS (ORPHA:899)
Association type: UNKNOWN
Gene: POMT1
Disease: POMT1-related limb-girdle muscular dystrophy R11; Autosomal recessive limb-girdle muscular dystrophy type 2K; LGMD type 2K; LGMD2K; Limb-girdle muscular dystrophy type 2K; Limb-girdle muscular dystrophy-intellectual disability syndrome; POMT1-related LGMD R11 (ORPHA:86812)
Association type: UNKNOWN
Gene: POMT1
Disease: Muscle-eye-brain disease; MEB syndrome; Muscle-eye-brain syndrome; Santavuori congenital muscular dystrophy (ORPHA:588)
Association type: UNKNOWN
Gene: TMC1
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 7 (OMIM:600974)
Association type: MENDELIAN
Gene: TMC1
Disease: DEAFNESS, AUTOSOMAL DOMINANT 36 (OMIM:606705)
Association type: MENDELIAN
Gene: TMC1
Disease: Rare autosomal dominant non-syndromic sensorineural deafness type DFNA; Autosomal dominant isolated neurosensory deafness type DFNA; Autosomal dominant isolated neurosensory hearing loss type DFNA; Autosomal dominant isolated sensorineural deafness type DFNA; Autosomal dominant isolated sensorineural hearing loss type DFNA; Autosomal dominant non-syndromic neurosensory deafness type DFNA; Autosomal dominant non-syndromic neurosensory hearing loss type DFNA; Autosomal dominant non-syndromic sensorineural hearing loss type DFNA (ORPHA:90635)
Association type: UNKNOWN
Gene: TMC1
Disease: Rare autosomal recessive non-syndromic sensorineural deafness type DFNB; Autosomal recessive isolated neurosensory deafness type DFNB; Autosomal recessive isolated neurosensory hearing loss type DFNB; Autosomal recessive isolated sensorineural deafness type DFNB; Autosomal recessive isolated sensorineural hearing loss type DFNB; Autosomal recessive non-syndromic neurosensory deafness type DFNB; Autosomal recessive non-syndromic neurosensory hearing loss type DFNB; Autosomal recessive non-syndromic sensorineural hearing loss type DFNB (ORPHA:90636)
Association type: UNKNOWN
Gene: TRPV4
Disease: SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE (OMIM:184252)
Association type: MENDELIAN
Gene: TRPV4
Disease: DIGITAL ARTHROPATHY-BRACHYDACTYLY, FAMILIAL (OMIM:606835)
Association type: MENDELIAN
Gene: TRPV4
Disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VIII (OMIM:600175)
Association type: MENDELIAN
Gene: TRPV4
Disease: SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY (OMIM:181405)
Association type: MENDELIAN
Gene: TRPV4
Disease: PARASTREMMATIC DWARFISM (OMIM:168400)
Association type: MENDELIAN
Gene: TRPV4
Disease: HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC (OMIM:606071)
Association type: MENDELIAN
Gene: TRPV4
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: TRPV4
Disease: BRACHYOLMIA TYPE 3 (OMIM:113500)
Association type: MENDELIAN
Gene: TRPV4
Disease: METATROPIC DYSPLASIA (OMIM:156530)
Association type: MENDELIAN
Gene: TRPV4
Disease: AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY, 2 (OMIM:617383)
Association type: MENDELIAN
Gene: TRPV4
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: TRPV4
Disease: SPONDYLOEPIPHYSEAL DYSPLASIA, MAROTEAUX TYPE (OMIM:184095)
Association type: MENDELIAN
Gene: TRPV4
Disease: SODIUM SERUM LEVEL QUANTITATIVE TRAIT LOCUS 1 (OMIM:613508)
Association type: MENDELIAN
Gene: TRPV4
Disease: Spondyloepimetaphyseal dysplasia, Maroteaux type; Pseudo-Morquio syndrome type 2; Pseudo-Morquio type II syndrome; SEMD, Maroteaux type; SEMD-M (ORPHA:263482)
Association type: UNKNOWN
Gene: TRPV4
Disease: Autosomal dominant Charcot-Marie-Tooth disease type 2C; CMT2C (ORPHA:99937)
Association type: UNKNOWN
Gene: TRPV4
Disease: Autosomal dominant congenital benign spinal muscular atrophy; Autosomal dominant benign distal spinal muscular atrophy; Congenital benign spinal muscular atrophy with contractures; Congenital nonprogressive spinal muscular atrophy (ORPHA:1216)
Association type: UNKNOWN
Gene: TRPV4
Disease: Familial avascular necrosis of femoral head; Familial osteonecrosis of the femoral head (ORPHA:86820)
Association type: UNKNOWN
Gene: TRPV4
Disease: Metatropic dysplasia; Metatropic dwarfism (ORPHA:2635)
Association type: UNKNOWN
Gene: TRPV4
Disease: Scapuloperoneal spinal muscular atrophy; Neurogenic scapuloperoneal amyotrophy, New England type; SPSMA; Scapuloperoneal neuronopathy (ORPHA:431255)
Association type: UNKNOWN
Gene: TRPV4
Disease: Spondylometaphyseal dysplasia, Kozlowski type (ORPHA:93314)
Association type: UNKNOWN
Gene: TRPV4
Disease: Autosomal dominant brachyolmia; Brachyolmia type 3 (ORPHA:93304)
Association type: UNKNOWN
Gene: TRPV4
Disease: Familial digital arthropathy-brachydactyly (ORPHA:85169)
Association type: UNKNOWN
Gene: TMIE
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 6 (OMIM:600971)
Association type: MENDELIAN
Gene: TMIE
Disease: Rare autosomal recessive non-syndromic sensorineural deafness type DFNB; Autosomal recessive isolated neurosensory deafness type DFNB; Autosomal recessive isolated neurosensory hearing loss type DFNB; Autosomal recessive isolated sensorineural deafness type DFNB; Autosomal recessive isolated sensorineural hearing loss type DFNB; Autosomal recessive non-syndromic neurosensory deafness type DFNB; Autosomal recessive non-syndromic neurosensory hearing loss type DFNB; Autosomal recessive non-syndromic sensorineural hearing loss type DFNB (ORPHA:90636)
Association type: UNKNOWN
Gene: ASPA
Disease: CANAVAN DISEASE (OMIM:271900)
Association type: MENDELIAN
Gene: ASPA
Disease: Mild Canavan disease; Juvenile Canavan disease (ORPHA:314918)
Association type: UNKNOWN
Gene: ASPA
Disease: Severe Canavan disease; Infantile Canavan disease; Neonatal Canavan disease (ORPHA:314911)
Association type: UNKNOWN
Gene: EEF2
Disease: SPINOCEREBELLAR ATAXIA 26 (OMIM:609306)
Association type: MENDELIAN
Gene: EEF2
Disease: Spinocerebellar ataxia type 26; SCA26 (ORPHA:101112)
Association type: UNKNOWN
Gene: SLC26A2
Disease: ACHONDROGENESIS, TYPE IB (OMIM:600972)
Association type: MENDELIAN
Gene: SLC26A2
Disease: MARSHALL SYNDROME (OMIM:154780)
Association type: MENDELIAN
Gene: SLC26A2
Disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, 4 (OMIM:226900)
Association type: MENDELIAN
Gene: SLC26A2
Disease: OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:184840)
Association type: MENDELIAN
Gene: SLC26A2
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: SLC26A2
Disease: ATELOSTEOGENESIS, TYPE II (OMIM:256050)
Association type: MENDELIAN
Gene: SLC26A2
Disease: DIASTROPHIC DYSPLASIA (OMIM:222600)
Association type: MENDELIAN
Gene: SLC26A2
Disease: KNIEST DYSPLASIA (OMIM:156550)
Association type: MENDELIAN
Gene: SLC26A2
Disease: WAGNER VITREORETINOPATHY (OMIM:143200)
Association type: MENDELIAN
Gene: SLC26A2
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: SLC26A2
Disease: Atelosteogenesis type II; AO2; AOII; Atelosteogenesis type 2; De la Chapelle dysplasia; Neonatal osseous dysplasia type 1 (ORPHA:56304)
Association type: UNKNOWN
Gene: SLC26A2
Disease: Achondrogenesis type 1B; Achondrogenesis, Parenti-Fraccaro type (ORPHA:93298)
Association type: UNKNOWN
Gene: SLC26A2
Disease: Diastrophic dysplasia; Diastrophic dwarfism (ORPHA:628)
Association type: UNKNOWN
Gene: SLC26A2
Disease: Multiple epiphyseal dysplasia type 4; Autosomal recessive multiple epiphyseal dysplasia; EDM4; MED4; Polyepiphyseal dysplasia type 4; rMED (ORPHA:93307)
Association type: UNKNOWN
Gene: PITPNM3
Disease: CONE-ROD DYSTROPHY 5 (OMIM:600977)
Association type: MENDELIAN
Gene: PITPNM3
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: PITPNM3
Disease: Cone rod dystrophy (ORPHA:1872)
Association type: UNKNOWN
Gene: LTBP2
Disease: GLAUCOMA 3, PRIMARY INFANTILE, B (OMIM:600975)
Association type: MENDELIAN
Gene: LTBP2
Disease: MICROSPHEROPHAKIA AND/OR MEGALOCORNEA, WITH ECTOPIA LENTIS AND WITH OR WITHOUT SECONDARY GLAUCOMA (OMIM:251750)
Association type: MENDELIAN
Gene: LTBP2
Disease: GLAUCOMA 3, PRIMARY CONGENITAL, D (OMIM:613086)
Association type: MENDELIAN
Gene: LTBP2
Disease: WEILL-MARCHESANI SYNDROME 3 (OMIM:614819)
Association type: MENDELIAN
Gene: LTBP2
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: LTBP2
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: LTBP2
Disease: Congenital glaucoma; Buphthalmia; Buphthalmos; Buphthalmus; Primary congenital glaucoma (ORPHA:98976)
Association type: UNKNOWN
Gene: LTBP2
Disease: Glaucoma secondary to spherophakia/ectopia lentis and megalocornea; Megalocornea-spherophakia-secondary glaucoma syndrome (ORPHA:238763)
Association type: UNKNOWN
Gene: LTBP2
Disease: Weill-Marchesani syndrome; Spherophakia-brachymorphia syndrome (ORPHA:3449)
Association type: UNKNOWN
Gene: TEK
Disease: GLAUCOMA 3, PRIMARY INFANTILE, B (OMIM:600975)
Association type: MENDELIAN
Gene: TEK
Disease: VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL (OMIM:600195)
Association type: MENDELIAN
Gene: TEK
Disease: GLAUCOMA 3, PRIMARY CONGENITAL, E (OMIM:617272)
Association type: MENDELIAN
Gene: TEK
Disease: Blue rubber bleb nevus; BRBN; Bean syndrome (ORPHA:1059)
Association type: UNKNOWN
Gene: TEK
Disease: Congenital glaucoma; Buphthalmia; Buphthalmos; Buphthalmus; Primary congenital glaucoma (ORPHA:98976)
Association type: UNKNOWN
Gene: TEK
Disease: Mucocutaneous venous malformations; Cutaneous and mucosal venous malformation; VMCM (ORPHA:2451)
Association type: UNKNOWN
Gene: CYP1B1
Disease: GLAUCOMA 3, PRIMARY INFANTILE, B (OMIM:600975)
Association type: MENDELIAN
Gene: CYP1B1
Disease: GLAUCOMA 3, PRIMARY CONGENITAL, A (OMIM:231300)
Association type: MENDELIAN
Gene: CYP1B1
Disease: ANTERIOR SEGMENT DYSGENESIS 6 (OMIM:617315)
Association type: MENDELIAN
Gene: CYP1B1
Disease: Congenital glaucoma; Buphthalmia; Buphthalmos; Buphthalmus; Primary congenital glaucoma (ORPHA:98976)
Association type: UNKNOWN
Gene: CYP1B1
Disease: Juvenile glaucoma (ORPHA:98977)
Association type: UNKNOWN
Gene: CYP1B1
Disease: Peters anomaly; Peters congenital glaucoma (ORPHA:708)
Association type: UNKNOWN
Gene: LHFPL5
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 67 (OMIM:610265)
Association type: MENDELIAN
Gene: LHFPL5
Disease: Rare autosomal recessive non-syndromic sensorineural deafness type DFNB; Autosomal recessive isolated neurosensory deafness type DFNB; Autosomal recessive isolated neurosensory hearing loss type DFNB; Autosomal recessive isolated sensorineural deafness type DFNB; Autosomal recessive isolated sensorineural hearing loss type DFNB; Autosomal recessive non-syndromic neurosensory deafness type DFNB; Autosomal recessive non-syndromic neurosensory hearing loss type DFNB; Autosomal recessive non-syndromic sensorineural hearing loss type DFNB (ORPHA:90636)
Association type: UNKNOWN
Gene: BFSP2
Disease: CATARACT 12, MULTIPLE TYPES (OMIM:611597)
Association type: MENDELIAN
Gene: BFSP2
Disease: Pulverulent cataract; Coppock-like cataract; Dusty cataract (ORPHA:98984)
Association type: UNKNOWN
Gene: BFSP2
Disease: Early-onset sutural cataract; Early-onset cataract with Y-shaped suture opacities (ORPHA:98985)
Association type: UNKNOWN
Gene: BFSP2
Disease: Early-onset lamellar cataract (ORPHA:441452)
Association type: UNKNOWN
Gene: SLC25A22
Disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 3 (OMIM:609304)
Association type: MENDELIAN
Gene: SLC25A22
Disease: Early infantile epileptic encephalopathy; EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Ohtahara syndrome (ORPHA:1934)
Association type: UNKNOWN
Gene: SLC25A22
Disease: Epilepsy of infancy with migrating focal seizures; EIMFS; Epilepsy with migrating focal seizure in infancy; MMPEI; MMPSI; MPEI; MPSI; Malignant migrating partial epilepsy of infancy; Malignant migrating partial seizures of infancy; Migrating partial epilepsy of infancy; Migrating partial seizures of infancy (ORPHA:293181)
Association type: UNKNOWN
Gene: TP63
Disease: RAPP-HODGKIN SYNDROME (OMIM:129400)
Association type: MENDELIAN
Gene: TP63
Disease: ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3 (OMIM:604292)
Association type: MENDELIAN
Gene: TP63
Disease: LIMB-MAMMARY SYNDROME (OMIM:603543)
Association type: MENDELIAN
Gene: TP63
Disease: ADULT SYNDROME (OMIM:103285)
Association type: MENDELIAN
Gene: TP63
Disease: OROFACIAL CLEFT 8 (OMIM:618149)
Association type: MENDELIAN
Gene: TP63
Disease: PREMATURE OVARIAN FAILURE 21 (OMIM:620311)
Association type: MENDELIAN
Gene: TP63
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: TP63
Disease: ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE (OMIM:106260)
Association type: MENDELIAN
Gene: TP63
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: TP63
Disease: SPLIT-HAND/FOOT MALFORMATION 4 (OMIM:605289)
Association type: MENDELIAN
Gene: TP63
Disease: Isolated cleft lip (ORPHA:199302)
Association type: UNKNOWN
Gene: TP63
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: TP63
Disease: Bladder exstrophy; Classic exstrophy of the bladder (ORPHA:93930)
Association type: UNKNOWN
Gene: TP63
Disease: ADULT syndrome; Acro-dermato-ungual-lacrimal-tooth syndrome; Pigment anomaly-ectrodactyly-hypodontia syndrome (ORPHA:978)
Association type: UNKNOWN
Gene: TP63
Disease: Ankyloblepharon filiforme adnatum-cleft palate syndrome (ORPHA:1072)
Association type: UNKNOWN
Gene: TP63
Disease: EEC syndrome; Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome (ORPHA:1896)
Association type: UNKNOWN
Gene: TP63
Disease: Isolated split hand-split foot malformation; Ectrodactyly; SHFM; Split hand foot malformation (ORPHA:2440)
Association type: UNKNOWN
Gene: TP63
Disease: Cleft lip and alveolus (ORPHA:141291)
Association type: UNKNOWN
Gene: TP63
Disease: Limb-mammary syndrome; LMS (ORPHA:69085)
Association type: UNKNOWN
Gene: ADAMTSL2
Disease: GELEOPHYSIC DYSPLASIA 1 (OMIM:231050)
Association type: MENDELIAN
Gene: ADAMTSL2
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: ADAMTSL2
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: ADAMTSL2
Disease: Geleophysic dysplasia; Geleophysic dwarfism (ORPHA:2623)
Association type: UNKNOWN
Gene: ADAMTSL2
Disease: Dermatosparaxis Ehlers-Danlos syndrome; Dermatosparaxis EDS; Ehlers-Danlos syndrome type 7C; Human dermatosparaxis EDS VIIC; dEDS (ORPHA:1901)
Association type: UNKNOWN
Gene: TRIP11
Disease: ODONTOCHONDRODYSPLASIA 1 (OMIM:184260)
Association type: MENDELIAN
Gene: TRIP11
Disease: ACHONDROGENESIS, TYPE IA (OMIM:200600)
Association type: MENDELIAN
Gene: TRIP11
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: TRIP11
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: TRIP11
Disease: Odontochondrodysplasia; Chondrodysplasia-dentinogenesis imperfecta-joint laxity syndrome; Goldblatt chondrodysplasia; Goldblatt syndrome; ODCD (ORPHA:166272)
Association type: UNKNOWN
Gene: TRIP11
Disease: Achondrogenesis type 1A; Achondrogenesis, Houston-Harris type (ORPHA:93299)
Association type: UNKNOWN
Gene: AVPR2
Disease: DIABETES INSIPIDUS, NEPHROGENIC, X-LINKED (OMIM:304800)
Association type: MENDELIAN
Gene: AVPR2
Disease: NEPHROGENIC SYNDROME OF INAPPROPRIATE ANTIDIURESIS (OMIM:300539)
Association type: MENDELIAN
Gene: AVPR2
Disease: Arginine vasopressin resistance; Nephrogenic diabetes insipidus (ORPHA:223)
Association type: UNKNOWN
Gene: AVPR2
Disease: Nephrogenic syndrome of inappropriate antidiuresis; NSIAD (ORPHA:93606)
Association type: UNKNOWN
Gene: COL9A3
Disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, 3 (OMIM:600969)
Association type: MENDELIAN
Gene: COL9A3
Disease: MARSHALL SYNDROME (OMIM:154780)
Association type: MENDELIAN
Gene: COL9A3
Disease: STICKLER SYNDROME, TYPE VI (OMIM:620022)
Association type: MENDELIAN
Gene: COL9A3
Disease: OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:184840)
Association type: MENDELIAN
Gene: COL9A3
Disease: INTERVERTEBRAL DISC DISEASE (OMIM:603932)
Association type: POLYGENIC
Gene: COL9A3
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: COL9A3
Disease: KNIEST DYSPLASIA (OMIM:156550)
Association type: MENDELIAN
Gene: COL9A3
Disease: WAGNER VITREORETINOPATHY (OMIM:143200)
Association type: MENDELIAN
Gene: COL9A3
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: COL9A3
Disease: Autosomal recessive Stickler syndrome (ORPHA:250984)
Association type: UNKNOWN
Gene: COL9A3
Disease: Multiple epiphyseal dysplasia due to collagen 9 anomaly (ORPHA:166002)
Association type: UNKNOWN
Gene: ATP2A2
Disease: ACROKERATOSIS VERRUCIFORMIS (OMIM:101900)
Association type: MENDELIAN
Gene: ATP2A2
Disease:  (OMIM:621236)
Association type: POLYGENIC
Gene: ATP2A2
Disease: DARIER-WHITE DISEASE (OMIM:124200)
Association type: MENDELIAN
Gene: ATP2A2
Disease: Darier disease; Darier-White disease; Keratosis follicularis (ORPHA:218)
Association type: UNKNOWN
Gene: ATP2A2
Disease: Acrokeratosis verruciformis of Hopf; AKV of Hopf (ORPHA:79151)
Association type: UNKNOWN
Gene: ROR2
Disease: ROBINOW SYNDROME, AUTOSOMAL RECESSIVE 1 (OMIM:268310)
Association type: MENDELIAN
Gene: ROR2
Disease: BRACHYDACTYLY, TYPE B1 (OMIM:113000)
Association type: MENDELIAN
Gene: ROR2
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: ROR2
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: ROR2
Disease: Brachydactyly type B1 (ORPHA:572385)
Association type: UNKNOWN
Gene: ROR2
Disease: Autosomal recessive Robinow syndrome; COVESDEM syndrome; Costovertebral segmentation defect-mesomelia syndrome; RRS (ORPHA:1507)
Association type: UNKNOWN
Gene: PCSK1
Disease: PROPROTEIN CONVERTASE 1/3 DEFICIENCY (OMIM:600955)
Association type: MENDELIAN
Gene: PCSK1
Disease: BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 12 (OMIM:612362)
Association type: POLYGENIC
Gene: PCSK1
Disease: Obesity due to prohormone convertase I deficiency; PCI deficiency (ORPHA:71528)
Association type: UNKNOWN
Gene: RRM2B
Disease: ROD-CONE DYSTROPHY, SENSORINEURAL DEAFNESS, AND FANCONI-TYPE RENAL DYSFUNCTION (OMIM:268315)
Association type: MENDELIAN
Gene: RRM2B
Disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 5 (OMIM:613077)
Association type: MENDELIAN
Gene: RRM2B
Disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH RENAL TUBULOPATHY) (OMIM:612075)
Association type: MENDELIAN
Gene: RRM2B
Disease: Mitochondrial neurogastrointestinal encephalomyopathy; MNGIE (ORPHA:298)
Association type: UNKNOWN
Gene: RRM2B
Disease: Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy; Adult-onset CPEO with mitochondrial myopathy (ORPHA:329336)
Association type: UNKNOWN
Gene: RRM2B
Disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Association type: UNKNOWN
Gene: RRM2B
Disease: Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy; mtDNA depletion syndrome, encephalomyopathic form with renal tubulopathy (ORPHA:255235)
Association type: UNKNOWN
Gene: RRM2B
Disease: Kearns-Sayre syndrome (ORPHA:480)
Association type: UNKNOWN
Gene: SEMA4A
Disease: RETINITIS PIGMENTOSA 35 (OMIM:610282)
Association type: MENDELIAN
Gene: SEMA4A
Disease: CONE-ROD DYSTROPHY 10 (OMIM:610283)
Association type: MENDELIAN
Gene: SEMA4A
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: SEMA4A
Disease: Cone rod dystrophy (ORPHA:1872)
Association type: UNKNOWN
Gene: SEMA4A
Disease: Retinitis pigmentosa (ORPHA:791)
Association type: UNKNOWN
Gene: SEMA4A
Disease: Familial colorectal cancer Type X; FCCTX (ORPHA:440437)
Association type: UNKNOWN
Gene: CYBA
Disease: GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 4 (OMIM:233690)
Association type: MENDELIAN
Gene: CYBA
Disease: Chronic granulomatous disease; CGD; Chronic septic granulomatosis (ORPHA:379)
Association type: UNKNOWN
Gene: ESCO2
Disease: ROBERTS-SC PHOCOMELIA SYNDROME (OMIM:268300)
Association type: MENDELIAN
Gene: ESCO2
Disease: JUBERG-HAYWARD SYNDROME (OMIM:216100)
Association type: MENDELIAN
Gene: ESCO2
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: ESCO2
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: ESCO2
Disease: Roberts syndrome; Pseudothalidomide syndrome; Roberts-SC phocomelia syndrome; SC phocomelia; SC pseudothalidomide syndrome (ORPHA:3103)
Association type: UNKNOWN