TaoMedAI/RareMedData huggingface dataset:
Gene: RDH5
Disease: FUNDUS ALBIPUNCTATUS (OMIM:136880)
Association type: MENDELIAN
Gene: RDH5
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: RDH5
Disease: Fundus albipunctatus (ORPHA:227796)
Association type: UNKNOWN
Gene: RDH5
Disease: Retinitis punctata albescens; RPA (ORPHA:52427)
Association type: UNKNOWN
Gene: RLBP1
Disease: FUNDUS ALBIPUNCTATUS (OMIM:136880)
Association type: MENDELIAN
Gene: RLBP1
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: RLBP1
Disease: NEWFOUNDLAND ROD-CONE DYSTROPHY (OMIM:607476)
Association type: MENDELIAN
Gene: RLBP1
Disease: BOTHNIA RETINAL DYSTROPHY (OMIM:607475)
Association type: MENDELIAN
Gene: RLBP1
Disease: Fundus albipunctatus (ORPHA:227796)
Association type: UNKNOWN
Gene: RLBP1
Disease: Retinitis punctata albescens; RPA (ORPHA:52427)
Association type: UNKNOWN
Gene: RLBP1
Disease: Retinitis pigmentosa (ORPHA:791)
Association type: UNKNOWN
Gene: RLBP1
Disease: Bothnia retinal dystrophy; Västerbotten dystrophy (ORPHA:85128)
Association type: UNKNOWN
Gene: ERCC3
Disease: TRICHOTHIODYSTROPHY 2, PHOTOSENSITIVE (OMIM:616390)
Association type: MENDELIAN
Gene: ERCC3
Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP B (OMIM:610651)
Association type: MENDELIAN
Gene: ERCC3
Disease: Trichothiodystrophy (ORPHA:33364)
Association type: UNKNOWN
Gene: ERCC3
Disease: Xeroderma pigmentosum-Cockayne syndrome complex; XP/CS complex (ORPHA:220295)
Association type: UNKNOWN
Gene: ERCC3
Disease: Xeroderma pigmentosum (ORPHA:910)
Association type: UNKNOWN
Gene: GTF2H5
Disease: TRICHOTHIODYSTROPHY 3, PHOTOSENSITIVE (OMIM:616395)
Association type: MENDELIAN
Gene: GTF2H5
Disease: Trichothiodystrophy (ORPHA:33364)
Association type: UNKNOWN
Gene: IFT172
Disease: RETINITIS PIGMENTOSA 71 (OMIM:616394)
Association type: MENDELIAN
Gene: IFT172
Disease: SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY (OMIM:615630)
Association type: MENDELIAN
Gene: IFT172
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: IFT172
Disease: BARDET-BIEDL SYNDROME 20 (OMIM:619471)
Association type: MENDELIAN
Gene: IFT172
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: IFT172
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: IFT172
Disease: Bardet-Biedl syndrome; BBS (ORPHA:110)
Association type: UNKNOWN
Gene: IFT172
Disease: Retinitis pigmentosa (ORPHA:791)
Association type: UNKNOWN
Gene: IFT172
Disease: Saldino-Mainzer syndrome; Conorenal syndrome; Renal dysplasia-retinal pigmentary dystrophy-cerebellar ataxia-skeletal dysplasia syndrome (ORPHA:140969)
Association type: UNKNOWN
Gene: IFT172
Disease: Jeune syndrome; Asphyxiating thoracic dystrophy of the newborn; JATD; Jeune asphyxiating thoracic dystrophy (ORPHA:474)
Association type: UNKNOWN
Gene: KCND3
Disease: BRUGADA SYNDROME 9 (OMIM:616399)
Association type: MENDELIAN
Gene: KCND3
Disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Association type: MENDELIAN
Gene: KCND3
Disease: SPINOCEREBELLAR ATAXIA 19 (OMIM:607346)
Association type: MENDELIAN
Gene: KCND3
Disease: Brugada syndrome; Idiopathic ventricular fibrillation, Brugada type (ORPHA:130)
Association type: UNKNOWN
Gene: KCND3
Disease: Spinocerebellar ataxia type 19/22; SCA19/22 (ORPHA:98772)
Association type: UNKNOWN
Gene: ODAD1
Disease: CILIARY DYSKINESIA, PRIMARY, 20 (OMIM:615067)
Association type: MENDELIAN
Gene: ODAD1
Disease: TETRALOGY OF FALLOT (OMIM:187500)
Association type: MENDELIAN
Gene: ODAD1
Disease: Primary ciliary dyskinesia; PCD (ORPHA:244)
Association type: UNKNOWN
Gene: KCTD17
Disease: DYSTONIA 26, MYOCLONIC (OMIM:616398)
Association type: MENDELIAN
Gene: KCTD17
Disease: Myoclonus-dystonia syndrome; Alcohol-responsive dystonia; Hereditary essential myoclonus; Myoclonic dystonia (ORPHA:36899)
Association type: UNKNOWN
Gene: ECEL1
Disease: ARTHROGRYPOSIS, DISTAL, TYPE 5D (OMIM:615065)
Association type: MENDELIAN
Gene: ECEL1
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: ECEL1
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: ECEL1
Disease: Distal arthrogryposis type 5D; DA5D; Distal arthrogryposis type 5 without ophthalmoparesis; Distal arthrogryposis type 5 without ophthalmoplegia (ORPHA:329457)
Association type: UNKNOWN
Gene: TMEM38B
Disease: OSTEOGENESIS IMPERFECTA, TYPE XIV (OMIM:615066)
Association type: MENDELIAN
Gene: TMEM38B
Disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Association type: MENDELIAN
Gene: TMEM38B
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: TMEM38B
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: TMEM38B
Disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Association type: MENDELIAN
Gene: TMEM38B
Disease: Osteogenesis imperfecta type 4; OI type 4 (ORPHA:216820)
Association type: UNKNOWN
Gene: APOC2
Disease: APOLIPOPROTEIN C-II DEFICIENCY (OMIM:207750)
Association type: MENDELIAN
Gene: APOC2
Disease: Familial apolipoprotein C-II deficiency; Familial APOC2 deficiency; Familial apoC-II deficiency (ORPHA:309020)
Association type: UNKNOWN
Gene: B4GALNT1
Disease: SPASTIC PARAPLEGIA 26, AUTOSOMAL RECESSIVE (OMIM:609195)
Association type: MENDELIAN
Gene: B4GALNT1
Disease: Autosomal recessive spastic paraplegia type 26; GM2 synthase deficiency; SPG26 (ORPHA:101006)
Association type: UNKNOWN
Gene: TGFBR1
Disease: LOEYS-DIETZ SYNDROME 1 (OMIM:609192)
Association type: MENDELIAN
Gene: TGFBR1
Disease: MARFAN SYNDROME (OMIM:154700)
Association type: MENDELIAN
Gene: TGFBR1
Disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Association type: MENDELIAN
Gene: TGFBR1
Disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Association type: MENDELIAN
Gene: TGFBR1
Disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Association type: MENDELIAN
Gene: TGFBR1
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: TGFBR1
Disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Association type: MENDELIAN
Gene: TGFBR1
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: TGFBR1
Disease: MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO (OMIM:132800)
Association type: POLYGENIC
Gene: TGFBR1
Disease: Multiple self-healing squamous epithelioma; Familial primary self-healing squamous epithelioma of the skin, Ferguson-Smith type; Ferguson-Smith disease; MSSE; Multiple keratoacanthoma, Ferguson-Smith type; Self-healing squamous epithelioma type 1 (ORPHA:65748)
Association type: UNKNOWN
Gene: TGFBR1
Disease: Loeys-Dietz syndrome; Aortic aneurysm syndrome due to TGF-beta receptors anomalies (ORPHA:60030)
Association type: UNKNOWN
Gene: TGFBR1
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: TGFBR1
Disease: Marfan syndrome type 2; MFS2 (ORPHA:284973)
Association type: UNKNOWN
Gene: TRPS1
Disease: TRICHORHINOPHALANGEAL SYNDROME, TYPE I (OMIM:190350)
Association type: MENDELIAN
Gene: TRPS1
Disease: TRICHORHINOPHALANGEAL SYNDROME, TYPE III (OMIM:190351)
Association type: MENDELIAN
Gene: TRPS1
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: TRPS1
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: TRPS1
Disease: Trichorhinophalangeal syndrome type 1 (ORPHA:77258)
Association type: UNKNOWN
Gene: TRPS1
Disease: Trichorhinophalangeal syndrome type 2; Langer-Giedion syndrome (ORPHA:502)
Association type: UNKNOWN
Gene: AMMECR1
Disease: MIDFACE HYPOPLASIA, HEARING IMPAIRMENT, ELLIPTOCYTOSIS, AND NEPHROCALCINOSIS (OMIM:300990)
Association type: MENDELIAN
Gene: AMMECR1
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: AMMECR1
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: AMMECR1
Disease: Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome; AMME complex; AMME syndrome; ATS-MR (ORPHA:86818)
Association type: UNKNOWN
Gene: AMMECR1
Disease: Midface hypoplasia-hearing impairment-elliptocytosis-nephrocalcinosis syndrome; MFHIEN; Midface hypoplasia-hearing loss-elliptocytosis-nephrocalcinosis syndrome (ORPHA:688581)
Association type: UNKNOWN
Gene: DNAAF6
Disease: CILIARY DYSKINESIA, PRIMARY, 36, X-LINKED (OMIM:300991)
Association type: MENDELIAN
Gene: DNAAF6
Disease: Primary ciliary dyskinesia; PCD (ORPHA:244)
Association type: UNKNOWN
Gene: LARP7
Disease: ALAZAMI SYNDROME (OMIM:615071)
Association type: MENDELIAN
Gene: LARP7
Disease: Alazami syndrome; Microcephalic primordial dwarfism, Alazami type (ORPHA:319671)
Association type: UNKNOWN
Gene: GATAD2B
Disease: GAND SYNDROME (OMIM:615074)
Association type: MENDELIAN
Gene: GATAD2B
Disease: Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome (ORPHA:363686)
Association type: UNKNOWN
Gene: RPL10
Disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35 (OMIM:300998)
Association type: MENDELIAN
Gene: RPL10
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: RPL10
Disease: AUTISM, SUSCEPTIBILITY TO, X-LINKED 5 (OMIM:300847)
Association type: POLYGENIC
Gene: RPL10
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: RPL10
Disease: X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome (ORPHA:435938)
Association type: UNKNOWN
Gene: RPL10
Disease: X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome (ORPHA:459070)
Association type: UNKNOWN
Gene: CTNNB1
Disease: NEURODEVELOPMENTAL DISORDER WITH SPASTIC DIPLEGIA AND VISUAL DEFECTS (OMIM:615075)
Association type: MENDELIAN
Gene: CTNNB1
Disease: EXUDATIVE VITREORETINOPATHY 7 (OMIM:617572)
Association type: MENDELIAN
Gene: CTNNB1
Disease: COLORECTAL CANCER (OMIM:114500)
Association type: MENDELIAN
Gene: CTNNB1
Disease: OVARIAN CANCER (OMIM:167000)
Association type: MENDELIAN
Gene: CTNNB1
Disease: HEPATOCELLULAR CARCINOMA (OMIM:114550)
Association type: MENDELIAN
Gene: CTNNB1
Disease: MEDULLOBLASTOMA (OMIM:155255)
Association type: MENDELIAN
Gene: CTNNB1
Disease: PILOMATRIXOMA (OMIM:132600)
Association type: MENDELIAN
Gene: CTNNB1
Disease: Adenoid ameloblastoma; AA (ORPHA:689430)
Association type: UNKNOWN
Gene: CTNNB1
Disease: Adult hepatocellular carcinoma; Adult HCC (ORPHA:210159)
Association type: UNKNOWN
Gene: CTNNB1
Disease: Osteopathia striata-cranial sclerosis syndrome; Hyperostosis generalisata with striations; Robinow-Unger syndrome (ORPHA:2780)
Association type: UNKNOWN
Gene: CTNNB1
Disease: Adrenocortical carcinoma; ACC (ORPHA:1501)
Association type: UNKNOWN
Gene: CTNNB1
Disease: Pediatric hepatocellular carcinoma; Childhood-onset HCC; Childhood-onset hepatocellular carcinoma; Pediatric HCC (ORPHA:33402)
Association type: UNKNOWN
Gene: CTNNB1
Disease: Pilomatrixoma; Epithelioma calcificans of Malherbe; Pilomatricoma (ORPHA:91414)
Association type: UNKNOWN
Gene: CTNNB1
Disease: Desmoid tumor; Aggressive fibromatosis; Desmoid type fibromatosis (ORPHA:873)
Association type: UNKNOWN
Gene: CTNNB1
Disease: Familial exudative vitreoretinopathy; Criswick-Schepens syndrome; FEVR (ORPHA:891)
Association type: UNKNOWN
Gene: CTNNB1
Disease: Acrofacial dysostosis, Weyers type; Curry-Hall syndrome; Weyers acrodental dysostosis; Weyers acrofacial dysostosis (ORPHA:952)
Association type: UNKNOWN
Gene: CTNNB1
Disease: Craniopharyngioma (ORPHA:54595)
Association type: UNKNOWN
Gene: CTNNB1
Disease: Severe intellectual disability-progressive spastic diplegia syndrome; CTNNB1 syndrome (ORPHA:404473)
Association type: UNKNOWN
Gene: CTNNB1
Disease: Microcystic stromal tumor; MCST (ORPHA:569248)
Association type: UNKNOWN
Gene: COL6A1
Disease: ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1 (OMIM:254090)
Association type: MENDELIAN
Gene: COL6A1
Disease: BETHLEM MYOPATHY 1 (OMIM:158810)
Association type: MENDELIAN
Gene: COL6A1
Disease: Ullrich congenital muscular dystrophy; UCMD; Ullrich scleroatonic muscular dystrophy (ORPHA:75840)
Association type: UNKNOWN
Gene: COL6A1
Disease: Bethlem muscular dystrophy; Bethlem myopathy; LGMD D5 collagen 6-related dystrophy; LGMD D5 collagen VI-related dystrophy; LGMD R22 collagen 6-related dystrophy; LGMD R22 collagen VI-related dystrophy; Mild form of COL6-related dystrophy; Mild form of collagen VI-related dystrophy (ORPHA:610)
Association type: UNKNOWN
Gene: COL6A1
Disease: Intermediate collagen VI-related muscular dystrophy; Intermediate COL6-RD (ORPHA:646113)
Association type: UNKNOWN
Gene: GNAL
Disease: DYSTONIA 25 (OMIM:615073)
Association type: MENDELIAN
Gene: GNAL
Disease: Autosomal dominant focal dystonia, DYT25 type; DYT25; Dystonia 25 (ORPHA:329466)
Association type: UNKNOWN
Gene: OGT
Disease: MENTAL RETARDATION, X-LINKED 106 (OMIM:300997)
Association type: MENDELIAN
Gene: MPDU1
Disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE If (OMIM:609180)
Association type: MENDELIAN
Gene: MPDU1
Disease: MPDU1-CDG; CDG syndrome type If; CDG-If; CDG1F; Carbohydrate deficient glycoprotein syndrome type If; Congenital disorder of glycosylation type 1f; Congenital disorder of glycosylation type If (ORPHA:79323)
Association type: UNKNOWN
Gene: KLHL10
Disease: SPERMATOGENIC FAILURE 11 (OMIM:615081)
Association type: MENDELIAN
Gene: KLHL10
Disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Association type: UNKNOWN
Gene: OR2J3
Disease: C3HEX, ABILITY TO SMELL (OMIM:615082)
Association type: MENDELIAN
Gene: SNX10
Disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 8 (OMIM:615085)
Association type: MENDELIAN
Gene: SNX10
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: SNX10
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: SNX10
Disease: Autosomal recessive malignant osteopetrosis; Infantile malignant osteopetrosis (ORPHA:667)
Association type: UNKNOWN
Gene: DLX3
Disease: TRICHODENTOOSSEOUS SYNDROME (OMIM:190320)
Association type: MENDELIAN
Gene: DLX3
Disease: AMELOGENESIS IMPERFECTA, TYPE IV (OMIM:104510)
Association type: MENDELIAN
Gene: DLX3
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: DLX3
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: DLX3
Disease: Tricho-dento-osseous syndrome; TDO syndrome (ORPHA:3352)
Association type: UNKNOWN
Gene: DLX3
Disease: Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism; Amelogenesis imperfecta type 4 (ORPHA:100034)
Association type: UNKNOWN
Gene: MGME1
Disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 11 (OMIM:615084)
Association type: MENDELIAN
Gene: MGME1
Disease: Progressive external ophthalmoplegia-myopathy-emaciation syndrome; Mitochondrial DNA maintenance syndrome due to MGME1 deficiency; PEO-myopathy-emaciation syndrome; mtDNA maintenance syndrome due to MGME1 deficiency (ORPHA:352447)
Association type: UNKNOWN
Gene: PRSS12
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 1 (OMIM:249500)
Association type: MENDELIAN
Gene: PRSS12
Disease: Autosomal recessive non-syndromic intellectual disability; AR-NSID; NS-ARID (ORPHA:88616)
Association type: UNKNOWN
Gene: FGF5
Disease: TRICHOMEGALY (OMIM:190330)
Association type: MENDELIAN
Gene: FGF5
Disease: Familial isolated trichomegaly (ORPHA:411788)
Association type: UNKNOWN
Gene: ACAN
Disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, AGGRECAN TYPE (OMIM:612813)
Association type: MENDELIAN
Gene: ACAN
Disease: SPONDYLOEPIPHYSEAL DYSPLASIA, KIMBERLEY TYPE (OMIM:608361)
Association type: MENDELIAN
Gene: ACAN
Disease: SHORT STATURE AND ADVANCED BONE AGE, WITH OR WITHOUT EARLY-ONSET OSTEOARTHRITIS AND/OR OSTEOCHONDRITIS DISSECANS (OMIM:165800)
Association type: MENDELIAN
Gene: ACAN
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: ACAN
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: ACAN
Disease: Spondyloepimetaphyseal dysplasia, aggrecan type; SEMD, aggrecan type (ORPHA:171866)
Association type: UNKNOWN
Gene: ACAN
Disease: Familial osteochondritis dissecans; Osteochondritis dissecans and short stature (ORPHA:251262)
Association type: UNKNOWN
Gene: ACAN
Disease: Spondyloepiphyseal dysplasia, Kimberley type (ORPHA:93283)
Association type: UNKNOWN
Gene: ACAN
Disease: Short stature-advanced bone age-early-onset osteoarthritis syndrome (ORPHA:435804)
Association type: UNKNOWN
Gene: NBEAL2
Disease: GRAY PLATELET SYNDROME (OMIM:139090)
Association type: MENDELIAN
Gene: NBEAL2
Disease: Gray platelet syndrome; Alpha storage pool deficiency; GPS; Platelet alpha-granule deficiency (ORPHA:721)
Association type: UNKNOWN
Gene: MAGED2
Disease: BARTTER SYNDROME, TYPE 5, ANTENATAL, TRANSIENT (OMIM:300971)
Association type: MENDELIAN
Gene: MAGED2
Disease: Bartter syndrome type 5; Bartter syndrome type V; Transient antenatal Bartter syndrome (ORPHA:570371)
Association type: UNKNOWN
Gene: MIB1
Disease: LEFT VENTRICULAR NONCOMPACTION 7 (OMIM:615092)
Association type: MENDELIAN
Gene: MIB1
Disease: Left ventricular noncompaction; LVNC; Left ventricular hypertrabeculation; Spongy myocardium (ORPHA:54260)
Association type: UNKNOWN
Gene: EIF4E
Disease: AUTISM, SUSCEPTIBILITY TO, 19 (OMIM:615091)
Association type: POLYGENIC
Gene: RLIM
Disease: TONNE-KALSCHEUER SYNDROME (OMIM:300978)
Association type: MENDELIAN
Gene: RLIM
Disease: Non-specific syndromic intellectual disability; Complex neurodevelopmental disorder (ORPHA:528084)
Association type: UNKNOWN
Gene: ZNF335
Disease: MICROCEPHALY 10, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:615095)
Association type: MENDELIAN
Gene: ZNF335
Disease: Microcephalic primordial dwarfism due to ZNF335 deficiency; Microcephalic primordial dwarfism, Walsh type (ORPHA:329228)
Association type: UNKNOWN
Gene: ATP6AP1
Disease: IMMUNODEFICIENCY 47 (OMIM:300972)
Association type: MENDELIAN
Gene: ATP6AP1
Disease:  (ORPHA:692790)
Association type: UNKNOWN
Gene: KCNH1
Disease: ZIMMERMANN-LABAND SYNDROME 1 (OMIM:135500)
Association type: MENDELIAN
Gene: KCNH1
Disease: TEMPLE-BARAITSER SYNDROME (OMIM:611816)
Association type: MENDELIAN
Gene: KCNH1
Disease: Temple-Baraitser syndrome; Severe intellectual disability-aplasia/hypoplasia of thumb and hallux syndrome; TMBTS (ORPHA:420561)
Association type: UNKNOWN
Gene: KCNH1
Disease: Zimmermann-Laband syndrome; Gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome; Laband syndrome (ORPHA:3473)
Association type: UNKNOWN
Gene: PDE8B
Disease: STRIATAL DEGENERATION, AUTOSOMAL DOMINANT 1 (OMIM:609161)
Association type: MENDELIAN
Gene: PDE8B
Disease: PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 3 (OMIM:614190)
Association type: MENDELIAN
Gene: PDE8B
Disease: Autosomal dominant striatal neurodegeneration; ADSD (ORPHA:228169)
Association type: UNKNOWN
Gene: PDE8B
Disease: Isolated micronodular adrenocortical disease; i-MAD (ORPHA:647782)
Association type: UNKNOWN
Gene: CHRDL1
Disease: MEGALOCORNEA (OMIM:309300)
Association type: MENDELIAN
Gene: CHRDL1
Disease: Isolated congenital megalocornea; Congenital anterior megalophthalmia (ORPHA:91489)
Association type: UNKNOWN
Gene: EMD
Disease: EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED (OMIM:310300)
Association type: MENDELIAN
Gene: EMD
Disease: X-linked Emery-Dreifuss muscular dystrophy (ORPHA:98863)
Association type: UNKNOWN
Gene: KRT10
Disease: ERYTHRODERMA, ICHTHYOSIFORM, CONGENITAL RETICULAR (OMIM:609165)
Association type: MENDELIAN
Gene: KRT10
Disease: EPIDERMOLYTIC HYPERKERATOSIS 2A, AUTOSOMAL DOMINANT (OMIM:620150)
Association type: MENDELIAN
Gene: KRT10
Disease: ICHTHYOSIS HYSTRIX, LAMBERT TYPE (OMIM:146600)
Association type: MENDELIAN
Gene: KRT10
Disease: ICHTHYOSIS, CYCLIC, WITH EPIDERMOLYTIC HYPERKERATOSIS (OMIM:607602)
Association type: MENDELIAN
Gene: KRT10
Disease: EPIDERMOLYTIC HYPERKERATOSIS 2B, AUTOSOMAL RECESSIVE (OMIM:620707)
Association type: MENDELIAN
Gene: KRT10
Disease: Autosomal dominant epidermolytic ichthyosis; BCIE; Bullous congenital ichthyosiform erythroderma; Bullous congenital ichthyosiform erythroderma of Brock; Bullous ichthyosis; EHK; EI; Epidermolytic hyperkeratosis; Ichthyosis hystrix Brocq type (ORPHA:312)
Association type: UNKNOWN
Gene: KRT10
Disease: Autosomal recessive epidermolytic ichthyosis; AREI (ORPHA:512103)
Association type: UNKNOWN
Gene: KRT10
Disease: Annular epidermolytic ichthyosis; AEI (ORPHA:281139)
Association type: UNKNOWN
Gene: KRT10
Disease: Congenital reticular ichthyosiform erythroderma; CRIE; IWC; Ichthyosis variegata; Ichthyosis with confetti (ORPHA:281190)
Association type: UNKNOWN
Gene: PAX3
Disease: WAARDENBURG SYNDROME, TYPE 3 (OMIM:148820)
Association type: MENDELIAN
Gene: PAX3
Disease: CRANIOFACIAL-DEAFNESS-HAND SYNDROME (OMIM:122880)
Association type: MENDELIAN
Gene: PAX3
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: PAX3
Disease: WAARDENBURG SYNDROME, TYPE 1 (OMIM:193500)
Association type: MENDELIAN
Gene: PAX3
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: PAX3
Disease: RHABDOMYOSARCOMA 2 (OMIM:268220)
Association type: MENDELIAN
Gene: PAX3
Disease: Craniofacial-deafness-hand syndrome; CDHS; Craniofacial-hearing loss-hand syndrome; Sommer-Young-Wee-Frye syndrome (ORPHA:1529)
Association type: UNKNOWN
Gene: PAX3
Disease: Waardenburg syndrome type 3; Klein-Waardenburg syndrome; WS3; Waardenburg syndrome type III; Waardenburg syndrome with limb anomalies (ORPHA:896)
Association type: UNKNOWN
Gene: PAX3
Disease: Waardenburg syndrome type 1; WS1; Waardenburg syndrome type I (ORPHA:894)
Association type: UNKNOWN
Gene: PAX3
Disease: Alveolar rhabdomyosarcoma (ORPHA:99756)
Association type: UNKNOWN
Gene: KLHL15
Disease: MENTAL RETARDATION, X-LINKED 103 (OMIM:300982)
Association type: MENDELIAN
Gene: ANKRD26
Disease: THROMBOCYTOPENIA 2 (OMIM:188000)
Association type: MENDELIAN
Gene: ANKRD26
Disease: Autosomal thrombocytopenia with normal platelets (ORPHA:168629)
Association type: UNKNOWN
Gene: MSN
Disease: IMMUNODEFICIENCY 50 (OMIM:300988)
Association type: MENDELIAN
Gene: MSN
Disease: Combined immunodeficiency due to Moesin deficiency; CID due to Moesin deficiency; MSN-related combined immunodeficiency; X-linked Moesin-associated immunodeficiency (ORPHA:504530)
Association type: UNKNOWN
Gene: BGN
Disease: MEESTER-LOEYS SYNDROME (OMIM:300989)
Association type: MENDELIAN
Gene: BGN
Disease: MARFAN SYNDROME (OMIM:154700)
Association type: MENDELIAN
Gene: BGN
Disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Association type: MENDELIAN
Gene: BGN
Disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Association type: MENDELIAN
Gene: BGN
Disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, X-LINKED (OMIM:300106)
Association type: MENDELIAN
Gene: BGN
Disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Association type: MENDELIAN
Gene: BGN
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: BGN
Disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Association type: MENDELIAN
Gene: BGN
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: BGN
Disease: X-linked spondyloepimetaphyseal dysplasia (ORPHA:93349)
Association type: UNKNOWN
Gene: BGN
Disease: X-linked severe syndromic thoracic aortic aneurysm and dissection; Meester-Loeys syndrome; X-linked severe syndromic TAAD (ORPHA:622925)
Association type: UNKNOWN
Gene: DRD3
Disease: TREMOR, HEREDITARY ESSENTIAL, 1 (OMIM:190300)
Association type: POLYGENIC
Gene: DRD3
Disease: SCHIZOPHRENIA (OMIM:181500)
Association type: POLYGENIC
Gene: FRMPD4
Disease: MENTAL RETARDATION, X-LINKED 104 (OMIM:300983)
Association type: MENDELIAN
Gene: FRMPD4
Disease: X-linked non-syndromic intellectual disability (ORPHA:777)
Association type: UNKNOWN
Gene: USP27X
Disease: MENTAL RETARDATION, X-LINKED 105 (OMIM:300984)
Association type: MENDELIAN
Gene: USP27X
Disease: X-linked non-syndromic intellectual disability (ORPHA:777)
Association type: UNKNOWN
Gene: ADGRG2
Disease: VAS DEFERENS, CONGENITAL BILATERAL APLASIA OF, X-LINKED (OMIM:300985)
Association type: MENDELIAN