TaoMedAI/RareMedData huggingface dataset:
Gene: EYA4
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: EYA4
Disease: Sensorineural deafness with dilated cardiomyopathy; Neurosensory deafness with dilated cardiomyopathy; Neurosensory hearing loss with dilated cardiomyopathy; Sensorineural hearing loss with dilated cardiomyopathy (ORPHA:217622)
Association type: UNKNOWN
Gene: IFT74
Disease: JOUBERT SYNDROME 40 (OMIM:619582)
Association type: MENDELIAN
Gene: IFT74
Disease: SPERMATOGENIC FAILURE 58 (OMIM:619585)
Association type: MENDELIAN
Gene: IFT74
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: IFT74
Disease: BARDET-BIEDL SYNDROME 20 (OMIM:617119)
Association type: MENDELIAN
Gene: IFT74
Disease: Male infertility due to large-headed multiflagellar polyploid spermatozoa; Macrocephalic sperm head syndrome; Male infertility due to macrozoospermia (ORPHA:137893)
Association type: UNKNOWN
Gene: IFT74
Disease: Bardet-Biedl syndrome; BBS (ORPHA:110)
Association type: UNKNOWN
Gene: IFT74
Disease: Joubert syndrome; CPD IV; Cerebelloparenchymal disorder IV; Classic Joubert syndrome; Joubert syndrome type A; Joubert-Boltshauser syndrome; Pure Joubert syndrome (ORPHA:475)
Association type: UNKNOWN
Gene: TIMMDC1
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 31 (OMIM:618251)
Association type: MENDELIAN
Gene: TIMMDC1
Disease: Isolated complex I deficiency; Isolated NADH-CoQ reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-ubiquinone reductase deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Association type: UNKNOWN
Gene: NDUFB8
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 32 (OMIM:618252)
Association type: MENDELIAN
Gene: NDUFA6
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 33 (OMIM:618253)
Association type: MENDELIAN
Gene: NDUFA6
Disease: Isolated complex I deficiency; Isolated NADH-CoQ reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-ubiquinone reductase deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Association type: UNKNOWN
Gene: LRRC56
Disease: CILIARY DYSKINESIA, PRIMARY, 39 (OMIM:618254)
Association type: MENDELIAN
Gene: LRRC56
Disease: Primary ciliary dyskinesia; PCD (ORPHA:244)
Association type: UNKNOWN
Gene: ASPRV1
Disease: ICHTHYOSIS, LAMELLAR, AUTOSOMAL DOMINANT (OMIM:146750)
Association type: MENDELIAN
Gene: ASPRV1
Disease: Lamellar ichthyosis; LI (ORPHA:313)
Association type: UNKNOWN
Gene: SPECC1L
Disease: HYPERTELORISM, TEEBI TYPE (OMIM:145420)
Association type: MENDELIAN
Gene: SPECC1L
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: SPECC1L
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: SPECC1L
Disease: FACIAL CLEFTING, OBLIQUE, 1 (OMIM:600251)
Association type: MENDELIAN
Gene: SPECC1L
Disease: SPECC1L-related hypertelorism syndrome; Brachycephalofrontonasal dysplasia; Teebi hypertelorism syndrome (ORPHA:1519)
Association type: UNKNOWN
Gene: SPECC1L
Disease: Tessier number 4 facial cleft (ORPHA:141258)
Association type: UNKNOWN
Gene: SPECC1L
Disease: Tessier number 7 facial cleft; Commissural facial cleft; Transverse facial cleft (ORPHA:141276)
Association type: UNKNOWN
Gene: FOXL1
Disease: OTOSCLEROSIS 11 (OMIM:620576)
Association type: MENDELIAN
Gene: FOXL1
Disease: TETRALOGY OF FALLOT (OMIM:187500)
Association type: MENDELIAN
Gene: CRLF1
Disease: CRISPONI/COLD-INDUCED SWEATING SYNDROME 1 (OMIM:272430)
Association type: MENDELIAN
Gene: CRLF1
Disease: Crisponi syndrome (ORPHA:1545)
Association type: UNKNOWN
Gene: CRLF1
Disease: Idiopathic achalasia; Achalasia cardia; Idiopathic achalasia of esophagus; Primary achalasia (ORPHA:930)
Association type: UNKNOWN
Gene: CRLF1
Disease: Cold-induced sweating syndrome; CISS (ORPHA:157820)
Association type: UNKNOWN
Gene: SOX2
Disease: MICROPHTHALMIA, SYNDROMIC 3 (OMIM:206900)
Association type: MENDELIAN
Gene: SOX2
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: SOX2
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: SOX2
Disease: Septo-optic dysplasia spectrum; De Morsier syndrome; SOD; Septo-optic dysplasia (ORPHA:3157)
Association type: UNKNOWN
Gene: SOX2
Disease: Colobomatous microphthalmia; MAC; Microphthalmia with colobomatous cyst; Microphthalmia-anophthalmia-coloboma syndrome (ORPHA:98938)
Association type: UNKNOWN
Gene: SOX2
Disease: Anophthalmia/microphthalmia-esophageal atresia syndrome; MCOPS3; Syndromic microphthalmia type 3 (ORPHA:77298)
Association type: UNKNOWN
Gene: SOX2
Disease: Nanophthalmos; Nanophthalmia (ORPHA:35612)
Association type: UNKNOWN
Gene: DAW1
Disease: CILIARY DYSKINESIA, PRIMARY, 52 (OMIM:620570)
Association type: MENDELIAN
Gene: CD70
Disease: LYMPHOPROLIFERATIVE SYNDROME 3 (OMIM:618261)
Association type: MENDELIAN
Gene: CD70
Disease: Combined immunodeficiency due to CD70 deficiency; CID due to CD70 deficiency (ORPHA:538958)
Association type: UNKNOWN
Gene: TRPC6
Disease: FOCAL SEGMENTAL GLOMERULOSCLEROSIS 2 (OMIM:603965)
Association type: MENDELIAN
Gene: TRPC6
Disease: Hereditary steroid-resistant nephrotic syndrome; Familial idiopathic steroid-resistant nephrotic syndrome; Genetic FSGS; Genetic SRNS; Hereditary SRNS; Isolated SRNS; Monogenic SRNS (ORPHA:656)
Association type: UNKNOWN
Gene: GNPNAT1
Disease: RHIZOMELIC DYSPLASIA, AIN-NAZ TYPE (OMIM:619598)
Association type: MENDELIAN
Gene: GNPNAT1
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: GNPNAT1
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: CIB1
Disease: EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 3 (OMIM:618267)
Association type: POLYGENIC
Gene: CIB1
Disease: Inherited epidermodysplasia verruciformis; Lewandowsky-Lutz syndrome; Lutz-Lewandowsky epidermodysplasia verruciformis (ORPHA:302)
Association type: UNKNOWN
Gene: CCDC47
Disease: TRICHOHEPATONEURODEVELOPMENTAL SYNDROME (OMIM:618268)
Association type: MENDELIAN
Gene: PANK4
Disease: CATARACT 49 (OMIM:619593)
Association type: MENDELIAN
Gene: PANK4
Disease: Early-onset posterior polar cataract (ORPHA:98993)
Association type: UNKNOWN
Gene: SRCAP
Disease: DEVELOPMENTAL DELAY, HYPOTONIA, MUSCULOSKELETAL DEFECTS, AND BEHAVIORAL ABNORMALITIES (OMIM:619595)
Association type: MENDELIAN
Gene: SRCAP
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: SRCAP
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: SRCAP
Disease: FLOATING-HARBOR SYNDROME (OMIM:136140)
Association type: MENDELIAN
Gene: SRCAP
Disease: Floating-Harbor syndrome (ORPHA:2044)
Association type: UNKNOWN
Gene: SRCAP
Disease: Non-specific syndromic intellectual disability; Complex neurodevelopmental disorder (ORPHA:528084)
Association type: UNKNOWN
Gene: NTN1
Disease: MIRROR MOVEMENTS 4 (OMIM:618264)
Association type: MENDELIAN
Gene: NTN1
Disease: MIRROR MOVEMENTS 1 (OMIM:157600)
Association type: MENDELIAN
Gene: NTN1
Disease: Familial congenital mirror movements; Familial congenital controlateral synkinesia; Hereditary congenital controlateral synkinesia; Hereditary congenital mirror movements; Isolated congenital controlateral synkinesia; Isolated congenital mirror movements (ORPHA:238722)
Association type: UNKNOWN
Gene: MCAT
Disease: OPTIC ATROPHY 15 (OMIM:620583)
Association type: MENDELIAN
Gene: MCAT
Disease: Autosomal recessive isolated optic atrophy; Autosomal recessive non-syndromic optic atrophy (ORPHA:98676)
Association type: UNKNOWN
Gene: NRIP1
Disease: CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT 3 (OMIM:618270)
Association type: MENDELIAN
Gene: DICER1
Disease: GLOBAL DEVELOPMENTAL DELAY, LUNG CYSTS, OVERGROWTH, AND WILMS TUMOR (OMIM:618272)
Association type: MENDELIAN
Gene: DICER1
Disease: PLEUROPULMONARY BLASTOMA (OMIM:601200)
Association type: MENDELIAN
Gene: DICER1
Disease: GOITER, MULTINODULAR 1, WITH OR WITHOUT SERTOLI-LEYDIG CELL TUMORS (OMIM:138800)
Association type: MENDELIAN
Gene: DICER1
Disease: RHABDOMYOSARCOMA, EMBRYONAL, 2 (OMIM:180295)
Association type: MENDELIAN
Gene: DICER1
Disease: Malignant granulosa cell tumor of the ovary; Granulosa cell cancer; Granulosa cell malignant tumor (ORPHA:99915)
Association type: UNKNOWN
Gene: DICER1
Disease: Malignant Sertoli-Leydig cell tumor of the ovary; Androblastoma; Arrhenoblastoma; Ovarian Sertoli-Leydig cell cancer; Ovarian malignant Sertoli-Leydig cell tumor; Virilizing ovarian tumor (ORPHA:99916)
Association type: UNKNOWN
Gene: DICER1
Disease: Gynandroblastoma (ORPHA:99914)
Association type: UNKNOWN
Gene: DICER1
Disease: Familial multinodular goiter; FMNG; Familial MNG; Familial multinodular goiter syndrome (ORPHA:276399)
Association type: UNKNOWN
Gene: DICER1
Disease: Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome; GLOW syndrome (ORPHA:404476)
Association type: UNKNOWN
Gene: DICER1
Disease: DICER1 tumor-predisposition syndrome; PPB familial tumor and dysplasia syndrome; PPBFTDS; Pleuropulmonary blastoma familial tumor and dysplasia syndrome (ORPHA:284343)
Association type: UNKNOWN
Gene: DICER1
Disease: Embryonal rhabdomyosarcoma (ORPHA:99757)
Association type: UNKNOWN
Gene: NHLRC2
Disease: FIBROSIS, NEURODEGENERATION, AND CEREBRAL ANGIOMATOSIS (OMIM:618278)
Association type: MENDELIAN
Gene: NHLRC2
Disease: Fibrosis-neurodegeneration-cerebral angiomatosis syndrome; FINCA; Interstitial lung fibrosis-neurodegeneration-cerebral angiomatosis syndrome (ORPHA:621758)
Association type: UNKNOWN
Gene: PMP2
Disease: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1G (OMIM:618279)
Association type: MENDELIAN
Gene: PMP2
Disease: PMP2-related Charcot-Marie-Tooth disease type 1; PMP2-related CMT1; PMP2-related Charcot-Marie-Tooth neuropathy type 1; PMP2-related hereditary motor and sensory neuropathy type 1 (ORPHA:476394)
Association type: UNKNOWN
Gene: MAST1
Disease: MEGA-CORPUS-CALLOSUM SYNDROME WITH CEREBELLAR HYPOPLASIA AND CORTICAL MALFORMATIONS (OMIM:618273)
Association type: MENDELIAN
Gene: AGTPBP1
Disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH CEREBELLAR ATROPHY (OMIM:618276)
Association type: MENDELIAN
Gene: AGTPBP1
Disease: Pontocerebellar hypoplasia type 1; Norman disease; PCH1 (ORPHA:2254)
Association type: UNKNOWN
Gene: THAP1
Disease: DYSTONIA 6, TORSION (OMIM:602629)
Association type: MENDELIAN
Gene: THAP1
Disease: Primary dystonia, DYT6 type; DYT6; Generalized cervical and upper-limb-onset dystonia; Idiopathic torsion dystonia of mixed type (ORPHA:98806)
Association type: UNKNOWN
Gene: SMOC1
Disease: MICROPHTHALMIA WITH LIMB ANOMALIES (OMIM:206920)
Association type: MENDELIAN
Gene: SMOC1
Disease: Microphthalmia with limb anomalies; Anophthalmia-syndactyly syndrome; OAS; Ophthalmoacromelic syndrome; Waardenburg anophthalmia syndrome (ORPHA:1106)
Association type: UNKNOWN
Gene: FKBP10
Disease: BRUCK SYNDROME 1 (OMIM:259450)
Association type: MENDELIAN
Gene: FKBP10
Disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Association type: MENDELIAN
Gene: FKBP10
Disease: OSTEOGENESIS IMPERFECTA, TYPE XI (OMIM:610968)
Association type: MENDELIAN
Gene: FKBP10
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: FKBP10
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: FKBP10
Disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Association type: MENDELIAN
Gene: FKBP10
Disease: Bruck syndrome; Osteogenesis imperfecta-congenital joint contractures syndrome (ORPHA:2771)
Association type: UNKNOWN
Gene: FKBP10
Disease: Osteogenesis imperfecta type 3; OI type 3; Progressive deforming osteogenesis imperfecta; Severe osteogenesis imperfecta (ORPHA:216812)
Association type: UNKNOWN
Gene: FKBP10
Disease: Osteogenesis imperfecta type 4; OI type 4 (ORPHA:216820)
Association type: UNKNOWN
Gene: FKBP10
Disease: Kuskokwim syndrome; Arthrogryposis-like syndrome; Kuskokwim disease (ORPHA:1149)
Association type: UNKNOWN
Gene: ZNF341
Disease: HYPER-IgE RECURRENT INFECTION SYNDROME 3, AUTOSOMAL RECESSIVE (OMIM:618282)
Association type: MENDELIAN
Gene: ZNF341
Disease: Autosomal recessive hyper-IgE syndrome due to ZNF341 deficiency; AR-HIES due to ZNF341 deficiency; Autosomal recessive HIES due to ZNF341 deficiency; Autosomal recessive hyperimmunoglobulin E syndrome due to zinc finger protein 341 deficiency (ORPHA:641368)
Association type: UNKNOWN
Gene: MARK3
Disease: VISUAL IMPAIRMENT AND PROGRESSIVE PHTHISIS BULBI (OMIM:618283)
Association type: MENDELIAN
Gene: KCNA4
Disease: MICROCEPHALY, CATARACTS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND DYSTONIA WITH ABNORMAL STRIATUM (OMIM:618284)
Association type: MENDELIAN
Gene: CACNA1E
Disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 69 (OMIM:618285)
Association type: MENDELIAN
Gene: NFIB
Disease: MACROCEPHALY, ACQUIRED, WITH IMPAIRED INTELLECTUAL DEVELOPMENT (OMIM:618286)
Association type: MENDELIAN
Gene: RELA
Disease: MUCOCUTANEOUS ULCERATION, CHRONIC (OMIM:618287)
Association type: MENDELIAN
Gene: RELA
Disease: RELA fusion-positive ependymoma; Supratentorial C11ORF95-RELA fused ependymoma (ORPHA:530792)
Association type: UNKNOWN
Gene: RELA
Disease: Combined immunodeficiency due to RELA haploinsufficiency; CID due to RELA haploinsufficiency; Combined immunodeficiency due to RELA proto-oncogene, NF-kB subunit haploinsufficiency; RAID; RELA-associated inflammatory disease (ORPHA:596759)
Association type: UNKNOWN
Gene: PPIB
Disease: OSTEOGENESIS IMPERFECTA, TYPE IX (OMIM:259440)
Association type: MENDELIAN
Gene: PPIB
Disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Association type: MENDELIAN
Gene: PPIB
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: PPIB
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: PPIB
Disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Association type: MENDELIAN
Gene: PPIB
Disease: Osteogenesis imperfecta type 3; OI type 3; Progressive deforming osteogenesis imperfecta; Severe osteogenesis imperfecta (ORPHA:216812)
Association type: UNKNOWN
Gene: PPIB
Disease: Osteogenesis imperfecta type 2; Lethal osteogenesis imperfecta; OI type 2 (ORPHA:216804)
Association type: UNKNOWN
Gene: PPIB
Disease: Osteogenesis imperfecta type 4; OI type 4 (ORPHA:216820)
Association type: UNKNOWN
Gene: DOCK3
Disease: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED INTELLECTUAL DEVELOPMENT, HYPOTONIA, AND ATAXIA (OMIM:618292)
Association type: MENDELIAN
Gene: DOCK3
Disease: Non-specific syndromic intellectual disability; Complex neurodevelopmental disorder (ORPHA:528084)
Association type: UNKNOWN
Gene: VEGFA
Disease: MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 1 (OMIM:603933)
Association type: POLYGENIC
Gene: THBS2
Disease: INTERVERTEBRAL DISC DISEASE (OMIM:603932)
Association type: POLYGENIC
Gene: THBS2
Disease:  (OMIM:620865)
Association type: MENDELIAN
Gene: CILP
Disease: INTERVERTEBRAL DISC DISEASE (OMIM:603932)
Association type: POLYGENIC
Gene: ASPN
Disease: INTERVERTEBRAL DISC DISEASE (OMIM:603932)
Association type: POLYGENIC
Gene: ASPN
Disease: OSTEOARTHRITIS SUSCEPTIBILITY 3 (OMIM:607850)
Association type: POLYGENIC
Gene: PHKB
Disease: GLYCOGEN STORAGE DISEASE IXb (OMIM:261750)
Association type: MENDELIAN
Gene: PHKB
Disease: Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency; GSD due to liver and muscle phosphorylase kinase deficiency; GSD type 9B; GSD type IXb; Glycogen storage disease type 9B; Glycogen storage disease type IXb; Glycogenosis due to liver and muscle phosphorylase kinase deficiency; Glycogenosis type 9B; Glycogenosis type IXb (ORPHA:79240)
Association type: UNKNOWN
Gene: EIF3F
Disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 67 (OMIM:618295)
Association type: MENDELIAN
Gene: PHACTR1
Disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 70 (OMIM:618298)
Association type: MENDELIAN
Gene: PHACTR1
Disease:  (ORPHA:697160)
Association type: UNKNOWN
Gene: IGBP1
Disease: CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA, AND MICROGNATHIA (OMIM:300472)
Association type: MENDELIAN
Gene: IGBP1
Disease: Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome; Graham-Cox syndrome (ORPHA:52055)
Association type: UNKNOWN
Gene: CYB561
Disease: ORTHOSTATIC HYPOTENSION 2 (OMIM:618182)
Association type: MENDELIAN
Gene: PLVAP
Disease: DIARRHEA 10, PROTEIN-LOSING ENTEROPATHY TYPE (OMIM:618183)
Association type: MENDELIAN
Gene: PLVAP
Disease: Congenital chronic diarrhea with protein-losing enteropathy; Congenital chronic diarrhea with exudative enteropathy (ORPHA:329242)
Association type: UNKNOWN
Gene: BCAP31
Disease: DEAFNESS, DYSTONIA, AND CEREBRAL HYPOMYELINATION (OMIM:300475)
Association type: MENDELIAN
Gene: BCAP31
Disease: CADDS; Contiguous ABCD1 DXS1357E deletion syndrome; Zellweger-like contiguous gene deletion syndrome (ORPHA:369942)
Association type: UNKNOWN
Gene: BCAP31
Disease: Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome; Severe motor and intellectual disabilities-sensorineural hearing loss-dystonia syndrome (ORPHA:369939)
Association type: UNKNOWN
Gene: PPCS
Disease: CARDIOMYOPATHY, DILATED, 2C (OMIM:618189)
Association type: MENDELIAN
Gene: PPCS
Disease: Familial isolated dilated cardiomyopathy; Familial or idiopathic dilated cardiomyopathy (ORPHA:154)
Association type: UNKNOWN
Gene: ARF1
Disease: PERIVENTRICULAR NODULAR HETEROTOPIA 8 (OMIM:618185)
Association type: MENDELIAN
Gene: ARF1
Disease: Periventricular nodular heterotopia; PVNH (ORPHA:98892)
Association type: UNKNOWN
Gene: ESR2
Disease: OVARIAN DYSGENESIS 8 (OMIM:618187)
Association type: MENDELIAN
Gene: ESR2
Disease: Familial medullary thyroid carcinoma; Familial MTC (ORPHA:99361)
Association type: UNKNOWN
Gene: TRPV6
Disease: HYPERPARATHYROIDISM, TRANSIENT NEONATAL (OMIM:618188)
Association type: MENDELIAN
Gene: TRPV6
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: TRPV6
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: TRPV6
Disease: Hereditary chronic pancreatitis (ORPHA:676)
Association type: UNKNOWN
Gene: TRPV6
Disease: Neonatal severe primary hyperparathyroidism; NSHPT (ORPHA:417)
Association type: UNKNOWN
Gene: MKKS
Disease: MCKUSICK-KAUFMAN SYNDROME (OMIM:236700)
Association type: MENDELIAN
Gene: MKKS
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: MKKS
Disease: BARDET-BIEDL SYNDROME 6 (OMIM:605231)
Association type: MENDELIAN
Gene: MKKS
Disease: Bardet-Biedl syndrome; BBS (ORPHA:110)
Association type: UNKNOWN
Gene: MKKS
Disease: McKusick-Kaufman syndrome; Hydrometrocolpos-postaxial polydactyly syndrome; Kaufman-Mckusick syndrome (ORPHA:2473)
Association type: UNKNOWN
Gene: POMGNT1
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 3 (OMIM:253280)
Association type: MENDELIAN
Gene: POMGNT1
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: POMGNT1
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 3 (OMIM:613151)
Association type: MENDELIAN
Gene: POMGNT1
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 3 (OMIM:613157)
Association type: MENDELIAN
Gene: POMGNT1
Disease: RETINITIS PIGMENTOSA 76 (OMIM:617123)
Association type: MENDELIAN
Gene: POMGNT1
Disease: Congenital muscular dystrophy with cerebellar involvement; CMD with cerebellar involvement; CMD-CRB (ORPHA:370959)
Association type: UNKNOWN
Gene: POMGNT1
Disease: Walker-Warburg syndrome; HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; WWS (ORPHA:899)
Association type: UNKNOWN
Gene: POMGNT1
Disease: Retinitis pigmentosa (ORPHA:791)
Association type: UNKNOWN
Gene: POMGNT1
Disease: POMGNT1-related limb-girdle muscular dystrophy R15; Autosomal recessive limb-girdle muscular dystrophy type 2O; LGMD type 2O; LGMD2O; Limb-girdle muscular dystrophy type 2O; POMGNT1-related LGMD R15 (ORPHA:206564)
Association type: UNKNOWN
Gene: POMGNT1
Disease: Muscle-eye-brain disease; MEB syndrome; Muscle-eye-brain syndrome; Santavuori congenital muscular dystrophy (ORPHA:588)
Association type: UNKNOWN
Gene: PCNA
Disease: ATAXIA-TELANGIECTASIA-LIKE DISORDER 2 (OMIM:615919)
Association type: MENDELIAN
Gene: PCNA
Disease: PCNA-related progressive neurodegenerative photosensitivity syndrome (ORPHA:438134)
Association type: UNKNOWN
Gene: VARS2
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 20 (OMIM:615917)
Association type: MENDELIAN
Gene: VARS2
Disease: Combined oxidative phosphorylation defect type 20; COXPD20 (ORPHA:420728)
Association type: UNKNOWN
Gene: TARS2
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 21 (OMIM:615918)
Association type: MENDELIAN
Gene: TARS2
Disease: Combined oxidative phosphorylation defect type 21; COXPD21 (ORPHA:420733)
Association type: UNKNOWN
Gene: SCAPER
Disease: INTELLECTUAL DEVELOPMENTAL DISORDER AND RETINITIS PIGMENTOSA (OMIM:618195)
Association type: MENDELIAN
Gene: SCAPER
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: SCAPER
Disease: Bardet-Biedl syndrome; BBS (ORPHA:110)
Association type: UNKNOWN
Gene: SCAPER
Disease: Retinitis pigmentosa (ORPHA:791)
Association type: UNKNOWN
Gene: OPHN1
Disease: MENTAL RETARDATION, X-LINKED, WITH CEREBELLAR HYPOPLASIA AND DISTINCTIVE FACIAL APPEARANCE (OMIM:300486)
Association type: MENDELIAN
Gene: OPHN1
Disease: X-linked intellectual disability-cerebellar hypoplasia syndrome; OPHN1 syndrome; Oligophrenin-1 syndrome (ORPHA:137831)
Association type: UNKNOWN
Gene: MYO9A
Disease: MYASTHENIC SYNDROME, CONGENITAL, 24, PRESYNAPTIC (OMIM:618198)
Association type: MENDELIAN
Gene: MYO9A
Disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Association type: UNKNOWN
Gene: PRPF4
Disease: RETINITIS PIGMENTOSA 70 (OMIM:615922)
Association type: MENDELIAN
Gene: PRPF4
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: PRPF4
Disease: Retinitis pigmentosa (ORPHA:791)
Association type: UNKNOWN
Gene: HLCS
Disease: HOLOCARBOXYLASE SYNTHETASE DEFICIENCY (OMIM:253270)
Association type: MENDELIAN
Gene: HLCS
Disease: Holocarboxylase synthetase deficiency; Early-onset multiple carboxylase deficiency; Neonatal multiple carboxylase deficiency (ORPHA:79242)
Association type: UNKNOWN
Gene: ARNT2
Disease: WEBB-DATTANI SYNDROME (OMIM:615926)
Association type: MENDELIAN
Gene: ARNT2
Disease: Septo-optic dysplasia spectrum; De Morsier syndrome; SOD; Septo-optic dysplasia (ORPHA:3157)
Association type: UNKNOWN
Gene: GHSR
Disease: GROWTH HORMONE DEFICIENCY, ISOLATED PARTIAL (OMIM:615925)
Association type: MENDELIAN
Gene: GHSR
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: GHSR
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: GHSR
Disease: Short stature due to GHSR deficiency; Ghrelin receptor deficiency; Short stature due to growth hormone secretagogue receptor deficiency (ORPHA:314811)
Association type: UNKNOWN
Gene: ENG
Disease: TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1 (OMIM:187300)
Association type: MENDELIAN
Gene: ENG
Disease: Generalized juvenile polyposis/juvenile polyposis coli (ORPHA:329971)
Association type: UNKNOWN
Gene: ENG
Disease: Heritable pulmonary arterial hypertension; FPAH; Familial pulmonary arterial hypertension; HPAH; Hereditary pulmonary arterial hypertension (ORPHA:275777)
Association type: UNKNOWN
Gene: ENG
Disease: Hereditary hemorrhagic telangiectasia; HHT; Rendu-Osler disease; Rendu-Osler-Weber disease (ORPHA:774)
Association type: UNKNOWN
Gene: ENG
Disease: Familial cerebral saccular aneurysm; Familial berry aneurysm; Familial intracranial saccular aneurysm (ORPHA:231160)
Association type: UNKNOWN