TaoMedAI/RareMedData huggingface dataset:
Gene: TUBB3
Disease: Tubulinopathy-associated dysgyria; Brain stem asymmetry-superior cerebellar and basal ganglia dysplasia syndrome (ORPHA:467166)
Association type: UNKNOWN
Gene: TRPM6
Disease: HYPOMAGNESEMIA 1, INTESTINAL (OMIM:602014)
Association type: MENDELIAN
Gene: TRPM6
Disease: Primary hypomagnesemia with secondary hypocalcemia; HOMG1; HSH; Hypomagnesemia caused by selective magnesium malabsorption; Hypomagnesemia intestinal type 1; Intestinal hypomagnesemia with secondary hypocalcemia; PHSH (ORPHA:30924)
Association type: UNKNOWN
Gene: SLC4A11
Disease: CORNEAL DYSTROPHY AND PERCEPTIVE DEAFNESS (OMIM:217400)
Association type: MENDELIAN
Gene: SLC4A11
Disease: CORNEAL ENDOTHELIAL DYSTROPHY (OMIM:217700)
Association type: MENDELIAN
Gene: SLC4A11
Disease: CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 4 (OMIM:613268)
Association type: MENDELIAN
Gene: SLC4A11
Disease: Corneal dystrophy-perceptive deafness syndrome; CDPD; Corneal dystrophy with progressive deafness; Corneal dystrophy with progressive hearing loss; Corneal dystrophy-perceptive hearing loss syndrome; Harboyan syndrome (ORPHA:1490)
Association type: UNKNOWN
Gene: SLC4A11
Disease: Congenital hereditary endothelial dystrophy type II; Autosomal recessive CHED; Autosomal recessive congenital hereditary endothelial dystrophy; CHED2; CHEDII; Congenital hereditary endothelial dystrophy type 2; Infantile hereditary endothelial dystrophy; Maumenee corneal dystrophy (ORPHA:293603)
Association type: UNKNOWN
Gene: SLC4A11
Disease: Fuchs endothelial corneal dystrophy; Endoepithelial corneal dystrophy; FECD; Late hereditary endothelial dystrophy (ORPHA:98974)
Association type: UNKNOWN
Gene: SLC5A7
Disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIA (OMIM:158580)
Association type: MENDELIAN
Gene: SLC5A7
Disease: MYASTHENIC SYNDROME, CONGENITAL, 20, PRESYNAPTIC (OMIM:617143)
Association type: MENDELIAN
Gene: SLC5A7
Disease: Distal hereditary motor neuropathy type 7; Distal spinal muscular atrophy with vocal cord paralysis; dHMN7 (ORPHA:139589)
Association type: UNKNOWN
Gene: SLC5A7
Disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Association type: UNKNOWN
Gene: ANO6
Disease: SCOTT SYNDROME (OMIM:262890)
Association type: MENDELIAN
Gene: ANO6
Disease: Scott syndrome (ORPHA:806)
Association type: UNKNOWN
Gene: PLEKHG5
Disease: CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE C (OMIM:615376)
Association type: MENDELIAN
Gene: PLEKHG5
Disease: SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 4 (OMIM:611067)
Association type: MENDELIAN
Gene: PLEKHG5
Disease: Autosomal recessive lower motor neuron disease with childhood onset; Autosomal recessive distal spinal muscular atrophy type 4; Distal spinal muscular atrophy type 4; dSMA4 (ORPHA:206580)
Association type: UNKNOWN
Gene: PLEKHG5
Disease: Autosomal recessive intermediate Charcot-Marie-Tooth disease type C; RI-CMT type C (ORPHA:369867)
Association type: UNKNOWN
Gene: PRDM16
Disease: LEFT VENTRICULAR NONCOMPACTION 8 (OMIM:615373)
Association type: MENDELIAN
Gene: PRDM16
Disease: Left ventricular noncompaction; LVNC; Left ventricular hypertrabeculation; Spongy myocardium (ORPHA:54260)
Association type: UNKNOWN
Gene: PRDM16
Disease: Familial isolated dilated cardiomyopathy; Familial or idiopathic dilated cardiomyopathy (ORPHA:154)
Association type: UNKNOWN
Gene: PRDM16
Disease: 1p36 deletion syndrome; Del(1)(p36); Deletion 1p36; Deletion 1pter; Monosomy 1p36; Monosomy 1pter; Subtelomeric 1p36 deletion (ORPHA:1606)
Association type: UNKNOWN
Gene: RAB28
Disease: CONE-ROD DYSTROPHY 18 (OMIM:615374)
Association type: MENDELIAN
Gene: RAB28
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: RAB28
Disease: Cone rod dystrophy (ORPHA:1872)
Association type: UNKNOWN
Gene: SCN2B
Disease: ATRIAL FIBRILLATION, FAMILIAL, 14 (OMIM:615378)
Association type: MENDELIAN
Gene: SCN2B
Disease: Familial atrial fibrillation (ORPHA:334)
Association type: UNKNOWN
Gene: SCN2B
Disease: Brugada syndrome; Idiopathic ventricular fibrillation, Brugada type (ORPHA:130)
Association type: UNKNOWN
Gene: ANKS6
Disease: NEPHRONOPHTHISIS 16 (OMIM:615382)
Association type: MENDELIAN
Gene: ANKS6
Disease: Infantile nephronophthisis; Autosomal recessive infantile NPHP; Autosomal recessive infantile nephronophthisis (ORPHA:93591)
Association type: UNKNOWN
Gene: ANKS6
Disease: Juvenile nephronophthisis (ORPHA:93592)
Association type: UNKNOWN
Gene: TMEM70
Disease: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 2 (OMIM:614052)
Association type: MENDELIAN
Gene: TMEM70
Disease: TMEM70-related mitochondrial encephalo-cardio-myopathy; Mitochondrial encephalo-cardio-myopathy due to F1Fo ATPase deficiency; Mitochondrial encephalo-cardio-myopathy due to isolated ATP synthase deficiency; Mitochondrial encephalo-cardio-myopathy due to isolated mitochondrial respiratory chain complex V deficiency (ORPHA:1194)
Association type: UNKNOWN
Gene: SPTBN2
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 14 (OMIM:615386)
Association type: MENDELIAN
Gene: SPTBN2
Disease: SPINOCEREBELLAR ATAXIA 5 (OMIM:600224)
Association type: MENDELIAN
Gene: SPTBN2
Disease: Spectrin-associated autosomal recessive cerebellar ataxia; Autosomal recessive spinocerebellar ataxia type 14; Infantile-onset spinocerebellar ataxia-psychomotor delay syndrome; SCAR14; SPARCA; SPARCA1; Spectrin-associated autosomal recessive cerebellar ataxia type 1 (ORPHA:352403)
Association type: UNKNOWN
Gene: SPTBN2
Disease: Spinocerebellar ataxia type 5; SCA5 (ORPHA:98766)
Association type: UNKNOWN
Gene: ACAT2
Disease: ACETYL-CoA ACETYLTRANSFERASE-2 DEFICIENCY (OMIM:614055)
Association type: MENDELIAN
Gene: TRAC
Disease: T-CELL RECEPTOR-ALPHA/BETA DEFICIENCY (OMIM:615387)
Association type: MENDELIAN
Gene: TRAC
Disease: TCR-alpha-beta-positive T-cell deficiency; TCR-alpha-beta+ T-cell deficiency (ORPHA:397959)
Association type: UNKNOWN
Gene: ATP5F1E
Disease: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 3 (OMIM:614053)
Association type: MENDELIAN
Gene: ATP5F1E
Disease: Isolated ATP synthase deficiency; Isolated mitochondrial respiratory chain complex V deficiency (ORPHA:254913)
Association type: UNKNOWN
Gene: AMHR2
Disease: PERSISTENT MULLERIAN DUCT SYNDROME, TYPES I AND II (OMIM:261550)
Association type: MENDELIAN
Gene: AMHR2
Disease: Persistent Müllerian duct syndrome; PMDS; Persistent Müllerian derivatives (ORPHA:2856)
Association type: UNKNOWN
Gene: AMH
Disease: PERSISTENT MULLERIAN DUCT SYNDROME, TYPES I AND II (OMIM:261550)
Association type: MENDELIAN
Gene: AMH
Disease: Persistent Müllerian duct syndrome; PMDS; Persistent Müllerian derivatives (ORPHA:2856)
Association type: UNKNOWN
Gene: ZNF365
Disease: NEPHROLITHIASIS, URIC ACID, SUSCEPTIBILITY TO (OMIM:605990)
Association type: POLYGENIC
Gene: ZNF365
Disease: Narcolepsy type 2; Narcolepsy without cataplexy (ORPHA:83465)
Association type: UNKNOWN
Gene: ZNF365
Disease: Narcolepsy type 1; Gélineau disease; Hypocretin/orexin deficiency syndrome; Narcolepsy-cataplexy (ORPHA:2073)
Association type: UNKNOWN
Gene: NAT8L
Disease: N-ACETYLASPARTATE DEFICIENCY (OMIM:614063)
Association type: MENDELIAN
Gene: BCOR
Disease: MICROPHTHALMIA, SYNDROMIC 1 (OMIM:309800)
Association type: MENDELIAN
Gene: BCOR
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: BCOR
Disease: MICROPHTHALMIA, SYNDROMIC 2 (OMIM:300166)
Association type: MENDELIAN
Gene: BCOR
Disease: Oculofaciocardiodental syndrome; Cataract-microphthalmia-radiculomegaly-cardiac septal defect syndrome; OFCD syndrome (ORPHA:2712)
Association type: UNKNOWN
Gene: BCOR
Disease: Microphthalmia, Lenz type; Lenz microphthalmia (ORPHA:568)
Association type: UNKNOWN
Gene: BCOR
Disease: Acute promyelocytic leukemia; AML M3; AML with t(15;17)(q22;q12);(PML/RARalpha) and variants; APML; Acute myeloblastic leukemia 3; Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants (ORPHA:520)
Association type: UNKNOWN
Gene: BCOR
Disease: Clear cell sarcoma of kidney; CCSK (ORPHA:457246)
Association type: UNKNOWN
Gene: NAA10
Disease: MICROPHTHALMIA, SYNDROMIC 1 (OMIM:309800)
Association type: MENDELIAN
Gene: NAA10
Disease: OGDEN SYNDROME (OMIM:300855)
Association type: MENDELIAN
Gene: NAA10
Disease: Ogden syndrome; Premature aging appearance-developmental delay-cardiac arrhythmia syndrome (ORPHA:276432)
Association type: UNKNOWN
Gene: NAA10
Disease: Microphthalmia, Lenz type; Lenz microphthalmia (ORPHA:568)
Association type: UNKNOWN
Gene: TMEM231
Disease: MECKEL SYNDROME, TYPE 11 (OMIM:615397)
Association type: MENDELIAN
Gene: TMEM231
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: TMEM231
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: TMEM231
Disease: JOUBERT SYNDROME 20 (OMIM:614970)
Association type: MENDELIAN
Gene: TMEM231
Disease: Orofaciodigital syndrome type 6; Joubert syndrome with oral-facial-digital syndrome; Joubert syndrome with orofaciodigital defect; OFD6; Oral-facial-digital syndrome type 6; Polydactyly-cleft lip/palate-psychomotor retardation syndrome; Váradi syndrome; Váradi-Papp syndrome (ORPHA:2754)
Association type: UNKNOWN
Gene: TMEM231
Disease: Joubert syndrome with oculorenal defect; Arima syndrome; CORS; Cerebellooculorenal syndrome; Dekaban-Arima syndrome; JS type B; JS-OR; Joubert syndrome with Senior-Loken syndrome (ORPHA:2318)
Association type: UNKNOWN
Gene: TMEM231
Disease: Meckel syndrome; Dysencephalia splanchnocystica; Meckel-Gruber syndrome (ORPHA:564)
Association type: UNKNOWN
Gene: AP4B1
Disease: SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE (OMIM:614066)
Association type: MENDELIAN
Gene: AP4B1
Disease: Severe intellectual disability and progressive spastic paraplegia; AP4 deficiency syndrome (ORPHA:280763)
Association type: UNKNOWN
Gene: COX7B
Disease: LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1 (OMIM:309801)
Association type: MENDELIAN
Gene: COX7B
Disease: LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 2 (OMIM:300887)
Association type: MENDELIAN
Gene: COX7B
Disease: Microphthalmia with linear skin defects syndrome; MCOPS7; MIDAS syndrome; MLS syndrome; Microphthalmia-dermal aplasia-sclerocornea syndrome; Syndromic microphthalmia type 7 (ORPHA:2556)
Association type: UNKNOWN
Gene: HCCS
Disease: LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1 (OMIM:309801)
Association type: MENDELIAN
Gene: HCCS
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: HCCS
Disease: Microphthalmia with linear skin defects syndrome; MCOPS7; MIDAS syndrome; MLS syndrome; Microphthalmia-dermal aplasia-sclerocornea syndrome; Syndromic microphthalmia type 7 (ORPHA:2556)
Association type: UNKNOWN
Gene: PIGT
Disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3 (OMIM:615398)
Association type: MENDELIAN
Gene: PIGT
Disease: PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 2 (OMIM:615399)
Association type: MENDELIAN
Gene: PIGT
Disease: Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome; Congenital disorder of glycosylation due to PIGT deficiency; MCAHS type 3; Multiple congenital anomalies-hypotonia-seizures syndrome type 3; PIGT-CDG (ORPHA:369837)
Association type: UNKNOWN
Gene: AP4S1
Disease: SPASTIC PARAPLEGIA 52, AUTOSOMAL RECESSIVE (OMIM:614067)
Association type: MENDELIAN
Gene: AP4S1
Disease: Severe intellectual disability and progressive spastic paraplegia; AP4 deficiency syndrome (ORPHA:280763)
Association type: UNKNOWN
Gene: MRPL44
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 16 (OMIM:615395)
Association type: MENDELIAN
Gene: MRPL44
Disease: Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency; COXPD16; Combined oxidative phosphorylation defect type 16 (ORPHA:352563)
Association type: UNKNOWN
Gene: FLNC
Disease: MYOPATHY, DISTAL, 4 (OMIM:614065)
Association type: MENDELIAN
Gene: FLNC
Disease: MYOPATHY, MYOFIBRILLAR, 5 (OMIM:609524)
Association type: MENDELIAN
Gene: FLNC
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 26 (OMIM:617047)
Association type: MENDELIAN
Gene: FLNC
Disease: Distal myopathy with posterior leg and anterior hand involvement; Distal ABD-filaminopathy (ORPHA:63273)
Association type: UNKNOWN
Gene: FLNC
Disease: Familial isolated restrictive cardiomyopathy; Familial or idiopathic restrictive cardiomyopathy (ORPHA:75249)
Association type: UNKNOWN
Gene: FLNC
Disease: Muscle filaminopathy; FLNC-associated myofibrillar myopathy; Filamin C-related filaminopathy; MFM5 (ORPHA:171445)
Association type: UNKNOWN
Gene: ZBTB24
Disease: IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 2 (OMIM:614069)
Association type: MENDELIAN
Gene: ZBTB24
Disease: ICF syndrome; Immunodeficiency-centromeric instability-facial anomalies syndrome; Immunodeficiency-centromeric instability-facial dysmorphism syndrome (ORPHA:2268)
Association type: UNKNOWN
Gene: GALT
Disease: GALACTOSEMIA I (OMIM:230400)
Association type: MENDELIAN
Gene: GALT
Disease: Classic galactosemia; GALT deficiency; Galactose-1-phosphate uridyltransferase deficiency; Galactosemia type 1 (ORPHA:79239)
Association type: UNKNOWN
Gene: SASH3
Disease: IMMUNODEFICIENCY 102 (OMIM:301082)
Association type: MENDELIAN
Gene: SASH3
Disease: X-linked combined immunodeficiency due to SASH3 deficiency; X-linked CID due to SASH3 deficiency (ORPHA:653751)
Association type: UNKNOWN
Gene: SUMF1
Disease: MULTIPLE SULFATASE DEFICIENCY (OMIM:272200)
Association type: MENDELIAN
Gene: SUMF1
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: SUMF1
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: SUMF1
Disease: Multiple sulfatase deficiency; Austin disease; MSD; Mucosulfatidosis (ORPHA:585)
Association type: UNKNOWN
Gene: SSX1
Disease: SPERMATOGENIC FAILURE, X-LINKED, 5 (OMIM:301099)
Association type: MENDELIAN
Gene: SSX1
Disease: Synovial sarcoma; Synovialosarcoma (ORPHA:3273)
Association type: UNKNOWN
Gene: SSX1
Disease: Non-syndromic male infertility due to sperm motility disorder; Non-syndromic male infertility due asthenozoospermia (ORPHA:276234)
Association type: UNKNOWN
Gene: HPS4
Disease: HERMANSKY-PUDLAK SYNDROME 4 (OMIM:614073)
Association type: MENDELIAN
Gene: HPS4
Disease: Hermansky-Pudlak syndrome due to BLOC-3 deficiency; HPS with pulmonary fibrosis; Hermansky-Pudlak syndrome with pulmonary fibrosis (ORPHA:231500)
Association type: UNKNOWN
Gene: ZIC3
Disease: VACTERL ASSOCIATION, X-LINKED, WITH OR WITHOUT HYDROCEPHALUS (OMIM:314390)
Association type: MENDELIAN
Gene: ZIC3
Disease: TETRALOGY OF FALLOT (OMIM:187500)
Association type: MENDELIAN
Gene: ZIC3
Disease: HETEROTAXY, VISCERAL, 1, X-LINKED (OMIM:306955)
Association type: MENDELIAN
Gene: ZIC3
Disease: Isolated congenitally uncorrected transposition of the great arteries; Isolated congenitally uncorrected transposition of the great vessels (ORPHA:216718)
Association type: UNKNOWN
Gene: ZIC3
Disease: Situs ambiguus; Incomplete situs inversus; Partial situs inversus; Situs ambiguous (ORPHA:157769)
Association type: UNKNOWN
Gene: FANCB
Disease: VACTERL ASSOCIATION, X-LINKED, WITH OR WITHOUT HYDROCEPHALUS (OMIM:314390)
Association type: MENDELIAN
Gene: FANCB
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP B (OMIM:300514)
Association type: MENDELIAN
Gene: FANCB
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (OMIM:227650)
Association type: MENDELIAN
Gene: FANCB
Disease: Fanconi anemia; Fanconi pancytopenia (ORPHA:84)
Association type: UNKNOWN
Gene: FANCB
Disease: VACTERL with hydrocephalus; Sujansky-Leonard syndrome (ORPHA:3412)
Association type: UNKNOWN
Gene: HPS5
Disease: HERMANSKY-PUDLAK SYNDROME 5 (OMIM:614074)
Association type: MENDELIAN
Gene: HPS5
Disease: Hermansky-Pudlak syndrome due to BLOC-2 deficiency; HPS without pulmonary fibrosis; Hermansky-Pudlak syndrome without pulmonary fibrosis (ORPHA:231512)
Association type: UNKNOWN
Gene: HPS3
Disease: HERMANSKY-PUDLAK SYNDROME 3 (OMIM:614072)
Association type: MENDELIAN
Gene: HPS3
Disease: Hermansky-Pudlak syndrome due to BLOC-2 deficiency; HPS without pulmonary fibrosis; Hermansky-Pudlak syndrome without pulmonary fibrosis (ORPHA:231512)
Association type: UNKNOWN
Gene: RNF6
Disease: ESOPHAGEAL CANCER (OMIM:133239)
Association type: MENDELIAN
Gene: RNF6
Disease: Squamous cell carcinoma of the esophagus; ESCC; Esophageal epidermoid carcinoma; Esophageal squamous cell carcinoma (ORPHA:99977)
Association type: UNKNOWN
Gene: LZTS1
Disease: ESOPHAGEAL CANCER (OMIM:133239)
Association type: MENDELIAN
Gene: BLOC1S3
Disease: HERMANSKY-PUDLAK SYNDROME 8 (OMIM:614077)
Association type: MENDELIAN
Gene: BLOC1S3
Disease: Hermansky-Pudlak syndrome due to BLOC-1 deficiency (ORPHA:231531)
Association type: UNKNOWN
Gene: BPNT2
Disease: CHONDRODYSPLASIA WITH JOINT DISLOCATIONS, GPAPP TYPE (OMIM:614078)
Association type: MENDELIAN
Gene: BPNT2
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: BPNT2
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: BPNT2
Disease: Chondrodysplasia with joint dislocations, gPAPP type; gPAPP deficiency (ORPHA:280586)
Association type: UNKNOWN
Gene: HPS6
Disease: HERMANSKY-PUDLAK SYNDROME 6 (OMIM:614075)
Association type: MENDELIAN
Gene: HPS6
Disease: Hermansky-Pudlak syndrome due to BLOC-2 deficiency; HPS without pulmonary fibrosis; Hermansky-Pudlak syndrome without pulmonary fibrosis (ORPHA:231512)
Association type: UNKNOWN
Gene: DTNBP1
Disease: HERMANSKY-PUDLAK SYNDROME 7 (OMIM:614076)
Association type: MENDELIAN
Gene: DTNBP1
Disease: Hermansky-Pudlak syndrome due to BLOC-1 deficiency (ORPHA:231531)
Association type: UNKNOWN
Gene: CLEC1A
Disease: ASPERGILLOSIS, SUSCEPTIBILITY TO (OMIM:614079)
Association type: POLYGENIC
Gene: CLEC7A
Disease: ASPERGILLOSIS, SUSCEPTIBILITY TO (OMIM:614079)
Association type: POLYGENIC
Gene: CLEC7A
Disease: CANDIDIASIS, FAMILIAL, 4 (OMIM:613108)
Association type: MENDELIAN
Gene: CLEC7A
Disease: Chronic mucocutaneous candidiasis; CMC (ORPHA:1334)
Association type: UNKNOWN
Gene: RPE65
Disease: LEBER CONGENITAL AMAUROSIS 2 (OMIM:204100)
Association type: MENDELIAN
Gene: RPE65
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: RPE65
Disease: RETINITIS PIGMENTOSA 87 WITH CHOROIDAL INVOLVEMENT (OMIM:618697)
Association type: MENDELIAN
Gene: RPE65
Disease: RETINITIS PIGMENTOSA 20 (OMIM:613794)
Association type: MENDELIAN
Gene: RPE65
Disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Association type: UNKNOWN
Gene: RPE65
Disease: Retinitis pigmentosa (ORPHA:791)
Association type: UNKNOWN
Gene: RPE65
Disease: Severe early-childhood-onset retinal dystrophy; EOSRD; Early-onset severe retinal dystrophy; SECORD (ORPHA:364055)
Association type: UNKNOWN
Gene: TCEAL1
Disease: HIJAZI-REIS SYNDROME (OMIM:301094)
Association type: MENDELIAN
Gene: EPB41
Disease: ELLIPTOCYTOSIS 1 (OMIM:611804)
Association type: MENDELIAN
Gene: EPB41
Disease: Hereditary elliptocytosis; HE (ORPHA:288)
Association type: UNKNOWN
Gene: GABRA3
Disease: EPILEPSY, X-LINKED 2, WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT AND DYSMORPHIC FEATURES (OMIM:301091)
Association type: MENDELIAN
Gene: GABRA3
Disease: Thyrotoxic periodic paralysis; Thyrotoxic hypokalemic periodic paralysis (ORPHA:79102)
Association type: UNKNOWN
Gene: BEST1
Disease: BESTROPHINOPATHY, AUTOSOMAL RECESSIVE (OMIM:611809)
Association type: MENDELIAN
Gene: BEST1
Disease: MACULAR DYSTROPHY, VITELLIFORM, 2 (OMIM:153700)
Association type: MENDELIAN
Gene: BEST1
Disease: VITREORETINOCHOROIDOPATHY (OMIM:193220)
Association type: MENDELIAN
Gene: BEST1
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: BEST1
Disease: RETINITIS PIGMENTOSA 50 (OMIM:613194)
Association type: MENDELIAN
Gene: BEST1
Disease: Adult-onset foveomacular vitelliform dystrophy; AOFMD; AVMD; Adult-onset foveomacular dystrophy; Adult-onset foveomacular dystrophy with choroidal neovascularization; Adult-onset vitelliform macular dystrophy; Gass disease; Pseudo-Best disease; Pseudo-vitelliform macular dystrophy (ORPHA:99000)
Association type: UNKNOWN
Gene: BEST1
Disease: MRCS syndrome; Microcornea-rod-cone dystrophy-cataract-posterior staphyloma syndrome (ORPHA:263347)
Association type: UNKNOWN
Gene: BEST1
Disease: Best vitelliform macular dystrophy; BMD; BVMD; Best disease; Best macular dystrophy; Early-onset vitelliform macular dystrophy; Juvenile-onset vitelliform macular dystrophy; Polymorphic vitelline macular degeneration; Vitelliform macular dystrophy type 2 (ORPHA:1243)
Association type: UNKNOWN
Gene: BEST1
Disease: Autosomal recessive bestrophinopathy; Retinopathy, Burgess-Black type (ORPHA:139455)
Association type: UNKNOWN
Gene: BEST1
Disease: Autosomal dominant vitreoretinochoroidopathy; ADVIRC (ORPHA:3086)
Association type: UNKNOWN
Gene: BEST1
Disease: Retinitis pigmentosa (ORPHA:791)
Association type: UNKNOWN
Gene: BEST1
Disease: Nanophthalmos; Nanophthalmia (ORPHA:35612)
Association type: UNKNOWN
Gene: GCNT2
Disease: CATARACT 13 WITH ADULT i PHENOTYPE (OMIM:116700)
Association type: MENDELIAN
Gene: GCNT2
Disease: BLOOD GROUP, I SYSTEM (OMIM:110800)
Association type: MENDELIAN
Gene: GCNT2
Disease: Total early-onset cataract (ORPHA:98994)
Association type: UNKNOWN
Gene: PIGN
Disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1 (OMIM:614080)
Association type: MENDELIAN
Gene: PIGN
Disease: Fryns syndrome; Diaphragmatic hernia-facial dysmorphism-distal limb anomalies syndrome (ORPHA:2059)
Association type: UNKNOWN
Gene: PIGN
Disease: Multiple congenital anomalies-hypotonia-seizures syndrome; Congenital disorder of glycosylation due to PIGN deficiency; PIGN-CDG (ORPHA:280633)
Association type: UNKNOWN
Gene: HP
Disease: ANHAPTOGLOBINEMIA (OMIM:614081)
Association type: MENDELIAN
Gene: TFE3
Disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES (OMIM:301066)
Association type: MENDELIAN
Gene: TFE3
Disease: RENAL CELL CARCINOMA, Xp11-ASSOCIATED (OMIM:300854)
Association type: MENDELIAN
Gene: TFE3
Disease: MiT family translocation renal cell carcinoma; Carcinoma associated with MITF/TFE translocation; Translocation renal cell carcinoma (ORPHA:319308)
Association type: UNKNOWN
Gene: TFE3
Disease: Alveolar soft tissue sarcoma; ASPS; Alveolar soft part sarcoma (ORPHA:163699)
Association type: UNKNOWN
Gene: TFE3
Disease: Epithelioid hemangioendothelioma (ORPHA:157791)
Association type: UNKNOWN
Gene: FANCG
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP G (OMIM:614082)
Association type: MENDELIAN
Gene: FANCG
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (OMIM:227650)
Association type: MENDELIAN
Gene: FANCG
Disease: Fanconi anemia; Fanconi pancytopenia (ORPHA:84)
Association type: UNKNOWN
Gene: FANCL
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP L (OMIM:614083)
Association type: MENDELIAN
Gene: FANCL
Disease: Fanconi anemia; Fanconi pancytopenia (ORPHA:84)
Association type: UNKNOWN
Gene: TBX4
Disease: ISCHIOCOXOPODOPATELLAR SYNDROME WITH OR WITHOUT PULMONARY ARTERIAL HYPERTENSION (OMIM:147891)
Association type: MENDELIAN
Gene: TBX4
Disease: AMELIA, POSTERIOR, WITH PELVIC AND PULMONARY HYPOPLASIA SYNDROME (OMIM:601360)
Association type: MENDELIAN
Gene: TBX4
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: TBX4
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: TBX4
Disease: Familial clubfoot due to 17q23.1q23.2 microduplication; Hereditary clubfoot due to 17q23.1-q23.2 microduplication (ORPHA:238578)
Association type: UNKNOWN
Gene: TBX4
Disease: Coxopodopatellar syndrome; Ischiocoxopodopatellar syndrome; Ischiopatellar dysplasia; Ischiopubicpatellar syndrome; SPS; Scott-Taor syndrome; Small patella syndrome (ORPHA:1509)
Association type: UNKNOWN
Gene: TBX4
Disease: Heritable pulmonary arterial hypertension; FPAH; Familial pulmonary arterial hypertension; HPAH; Hereditary pulmonary arterial hypertension (ORPHA:275777)
Association type: UNKNOWN
Gene: TBX4
Disease: Tetraamelia-multiple malformations syndrome; PAPPA syndrome; PAPPAS; Zimmer phocomelia (ORPHA:3301)
Association type: UNKNOWN
Gene: TBX4
Disease: 17q23.1q23.2 microdeletion syndrome; Del(17)(q23.1q23.2); Monosomy 17q23.1q23.2 (ORPHA:261279)
Association type: UNKNOWN
Gene: CLDN2
Disease: AZOOSPERMIA, OBSTRUCTIVE, WITH NEPHROLITHIASIS (OMIM:301060)
Association type: MENDELIAN