TaoMedAI/RareMedData huggingface dataset:
Gene: ADGRG2
Disease: Congenital bilateral absence of vas deferens; Congenital bilateral agenesis of vas deferens; Congenital bilateral aplasia of vas deferens (ORPHA:48)
Association type: UNKNOWN
Gene: HNRNPH2
Disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE (OMIM:300986)
Association type: MENDELIAN
Gene: HNRNPH2
Disease: Neurodevelopmental delay-intellectual disability-skeletal defects syndrome; HNRNPH2-Related Neurodevelopmental Disorder (ORPHA:662198)
Association type: UNKNOWN
Gene: TSHR
Disease: HYPERTHYROIDISM, NONAUTOIMMUNE (OMIM:609152)
Association type: MENDELIAN
Gene: TSHR
Disease: HYPERTHYROIDISM, FAMILIAL GESTATIONAL (OMIM:603373)
Association type: MENDELIAN
Gene: TSHR
Disease: HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1 (OMIM:275200)
Association type: MENDELIAN
Gene: TSHR
Disease: Hypothyroidism due to TSH receptor mutations (ORPHA:90673)
Association type: UNKNOWN
Gene: TSHR
Disease: Familial gestational hyperthyroidism (ORPHA:99819)
Association type: UNKNOWN
Gene: TSHR
Disease: Thyroid hypoplasia (ORPHA:95720)
Association type: UNKNOWN
Gene: TSHR
Disease: Athyreosis (ORPHA:95713)
Association type: UNKNOWN
Gene: TSHR
Disease: Familial hyperthyroidism due to mutations in TSH receptor; Familial non-immune hyperthyroidism; Resistance to thyroid stimulating hormone (ORPHA:424)
Association type: UNKNOWN
Gene: ABCB6
Disease: PSEUDOHYPERKALEMIA, FAMILIAL, 2, DUE TO RED CELL LEAK (OMIM:609153)
Association type: MENDELIAN
Gene: ABCB6
Disease: BLOOD GROUP, LANGEREIS SYSTEM (OMIM:111600)
Association type: MENDELIAN
Gene: ABCB6
Disease: DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 3 (OMIM:615402)
Association type: MENDELIAN
Gene: ABCB6
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: ABCB6
Disease: MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 7 (OMIM:614497)
Association type: MENDELIAN
Gene: ABCB6
Disease: Dyschromatosis universalis hereditaria (ORPHA:241)
Association type: UNKNOWN
Gene: ABCB6
Disease: Familial pseudohyperkalemia (ORPHA:90044)
Association type: UNKNOWN
Gene: ABCB6
Disease: Coloboma of optic disc; Coloboma of optic papilla (ORPHA:98947)
Association type: UNKNOWN
Gene: ABCB6
Disease: Coloboma of eye lens (ORPHA:98943)
Association type: UNKNOWN
Gene: ABCB6
Disease: Coloboma of iris (ORPHA:98944)
Association type: UNKNOWN
Gene: ABCB6
Disease: Coloboma of macula (ORPHA:98945)
Association type: UNKNOWN
Gene: ABCB6
Disease: Coloboma of eyelid (ORPHA:98946)
Association type: UNKNOWN
Gene: ABCB6
Disease: Coloboma of choroid and retina (ORPHA:98942)
Association type: UNKNOWN
Gene: ABCB6
Disease: Colobomatous microphthalmia; MAC; Microphthalmia with colobomatous cyst; Microphthalmia-anophthalmia-coloboma syndrome (ORPHA:98938)
Association type: UNKNOWN
Gene: ABCC2
Disease: DUBIN-JOHNSON SYNDROME (OMIM:237500)
Association type: MENDELIAN
Gene: ABCC2
Disease: Dubin-Johnson syndrome; Dubin-Sprinz disease; Hyperbilirubinemia type 2; Sprinz-Nelson syndrome (ORPHA:234)
Association type: UNKNOWN
Gene: SCN1B
Disease: BRUGADA SYNDROME 5 (OMIM:612838)
Association type: MENDELIAN
Gene: SCN1B
Disease: GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 1 (OMIM:604233)
Association type: MENDELIAN
Gene: SCN1B
Disease: ATRIAL FIBRILLATION, FAMILIAL, 13 (OMIM:615377)
Association type: MENDELIAN
Gene: SCN1B
Disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 52 (OMIM:617350)
Association type: MENDELIAN
Gene: SCN1B
Disease: Familial atrial fibrillation (ORPHA:334)
Association type: UNKNOWN
Gene: SCN1B
Disease: Genetic epilepsy with febrile seizure plus; GEFS+; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Association type: UNKNOWN
Gene: SCN1B
Disease: Brugada syndrome; Idiopathic ventricular fibrillation, Brugada type (ORPHA:130)
Association type: UNKNOWN
Gene: SCN1B
Disease: Familial progressive cardiac conduction defect; Familial Lenègre disease; Familial Lev disease; Familial Lev-Lenègre disease; Familial PCCD; Familial progressive heart block; Hereditary bundle branch defect (ORPHA:871)
Association type: UNKNOWN
Gene: SCN1B
Disease: Early infantile epileptic encephalopathy; EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Ohtahara syndrome (ORPHA:1934)
Association type: UNKNOWN
Gene: SCN1B
Disease: Dravet syndrome; SMEI; Severe myoclonic epilepsy of infancy; Severe myoclonus epilepsy of infancy (ORPHA:33069)
Association type: UNKNOWN
Gene: TGFBI
Disease: CORNEAL DYSTROPHY, LATTICE TYPE I (OMIM:122200)
Association type: MENDELIAN
Gene: TGFBI
Disease: CORNEAL DYSTROPHY, REIS-BUCKLERS TYPE (OMIM:608470)
Association type: MENDELIAN
Gene: TGFBI
Disease: CORNEAL DYSTROPHY, LATTICE TYPE IIIA (OMIM:608471)
Association type: MENDELIAN
Gene: TGFBI
Disease: CORNEAL DYSTROPHY, THIEL-BEHNKE TYPE (OMIM:602082)
Association type: MENDELIAN
Gene: TGFBI
Disease: CORNEAL DYSTROPHY, AVELLINO TYPE (OMIM:607541)
Association type: MENDELIAN
Gene: TGFBI
Disease: CORNEAL DYSTROPHY, EPITHELIAL BASEMENT MEMBRANE (OMIM:121820)
Association type: MENDELIAN
Gene: TGFBI
Disease: CORNEAL DYSTROPHY, GROENOUW TYPE I (OMIM:121900)
Association type: MENDELIAN
Gene: TGFBI
Disease: Reis-Bücklers corneal dystrophy; Anterior limiting membrane dystrophy type 1; Anterior limiting membrane dystrophy type I; Atypical granular corneal dystrophy; Corneal dystrophy of Bowman layer type 1; Corneal dystrophy of Bowman layer type I; Geographic corneal dystrophy; Granular corneal dystrophy type 3; Granular corneal dystrophy type III; RBCD; Superficial granular corneal dystrophy (ORPHA:98961)
Association type: UNKNOWN
Gene: TGFBI
Disease: Granular corneal dystrophy type I; Classic GCD; Classic granular corneal dystrophy; Corneal dystrophy Groenouw type I; GCD1; GCDI; Granular corneal dystrophy type 1 (ORPHA:98962)
Association type: UNKNOWN
Gene: TGFBI
Disease: Granular corneal dystrophy type II; Avellino corneal dystrophy; GCD2; GCDII; Granular corneal dystrophy type 2; Granular-lattice corneal dystrophy (ORPHA:98963)
Association type: UNKNOWN
Gene: TGFBI
Disease: Lattice corneal dystrophy type I; Biber-Haab-Dimmer dystrophy; Classic lattice corneal dystrophy; LCD1; LCDI; Lattice corneal dystrophy type 1 (ORPHA:98964)
Association type: UNKNOWN
Gene: TGFBI
Disease: Thiel-Behnke corneal dystrophy; Anterior limiting membrane dystrophy type 2; Anterior limiting membrane dystrophy type II; Corneal dystrophy of Bowman layer type 2; Corneal dystrophy of Bowman layer type II; Curly fiber corneal dystrophy; Honeycomb corneal dystrophy; TBCD; Waardenburg-Jonker corneal dystrophy (ORPHA:98960)
Association type: UNKNOWN
Gene: TGFBI
Disease: Epithelial basement membrane dystrophy; Anterior basement membrane dystrophy; Cogan microcystic epithelial dystrophy; EBMD; Map-dot-fingerprint dystrophy (ORPHA:98956)
Association type: UNKNOWN
Gene: ABCA4
Disease: STARGARDT DISEASE 1 (OMIM:248200)
Association type: MENDELIAN
Gene: ABCA4
Disease: MACULAR DEGENERATION, AGE-RELATED, 2 (OMIM:153800)
Association type: POLYGENIC
Gene: ABCA4
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: ABCA4
Disease: CONE-ROD DYSTROPHY 3 (OMIM:604116)
Association type: MENDELIAN
Gene: ABCA4
Disease: RETINITIS PIGMENTOSA 19 (OMIM:601718)
Association type: MENDELIAN
Gene: ABCA4
Disease: Cone rod dystrophy (ORPHA:1872)
Association type: UNKNOWN
Gene: ABCA4
Disease: Retinitis pigmentosa (ORPHA:791)
Association type: UNKNOWN
Gene: ABCA4
Disease: Stargardt disease; Fundus flavimaculatus; Stargardt 1 (ORPHA:827)
Association type: UNKNOWN
Gene: THOC2
Disease: MENTAL RETARDATION, X-LINKED 12 (OMIM:300957)
Association type: MENDELIAN
Gene: THOC2
Disease:  (OMIM:301127)
Association type: MENDELIAN
Gene: THOC2
Disease: X-linked intellectual disability-short stature-overweight syndrome (ORPHA:457240)
Association type: UNKNOWN
Gene: HOXD10
Disease: VERTICAL TALUS, CONGENITAL (OMIM:192950)
Association type: MENDELIAN
Gene: HOXD10
Disease: Congenital vertical talus, bilateral (ORPHA:295203)
Association type: UNKNOWN
Gene: HOXD10
Disease: Congenital vertical talus, unilateral (ORPHA:295201)
Association type: UNKNOWN
Gene: NDUFB11
Disease: LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3 (OMIM:300952)
Association type: MENDELIAN
Gene: NDUFB11
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 30 (OMIM:301021)
Association type: MENDELIAN
Gene: NDUFB11
Disease: LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1 (OMIM:309801)
Association type: MENDELIAN
Gene: NDUFB11
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: NDUFB11
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: RNF113A
Disease: TRICHOTHIODYSTROPHY 5, NONPHOTOSENSITIVE (OMIM:300953)
Association type: MENDELIAN
Gene: RNF113A
Disease: Trichothiodystrophy (ORPHA:33364)
Association type: UNKNOWN
Gene: NOP10
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1 (OMIM:224230)
Association type: MENDELIAN
Gene: NOP10
Disease: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 9 (OMIM:620400)
Association type: MENDELIAN
Gene: NOP10
Disease: CATARACTS, HEARING IMPAIRMENT, NEPHROTIC SYNDROME, AND ENTEROCOLITIS 2 (OMIM:620425)
Association type: MENDELIAN
Gene: NOP10
Disease: Dyskeratosis congenita; DC; DKC; Zinsser-Engman-Cole syndrome (ORPHA:1775)
Association type: UNKNOWN
Gene: NHP2
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1 (OMIM:224230)
Association type: MENDELIAN
Gene: NHP2
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2 (OMIM:613987)
Association type: MENDELIAN
Gene: NHP2
Disease: Dyskeratosis congenita; DC; DKC; Zinsser-Engman-Cole syndrome (ORPHA:1775)
Association type: UNKNOWN
Gene: ZEB1
Disease: CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 3 (OMIM:609141)
Association type: MENDELIAN
Gene: ZEB1
Disease: CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 6 (OMIM:613270)
Association type: MENDELIAN
Gene: ZEB1
Disease: Posterior polymorphous corneal dystrophy; PPCD; Posterior polymorphous dystrophy; Schlichting dystrophy (ORPHA:98973)
Association type: UNKNOWN
Gene: ZEB1
Disease: Fuchs endothelial corneal dystrophy; Endoepithelial corneal dystrophy; FECD; Late hereditary endothelial dystrophy (ORPHA:98974)
Association type: UNKNOWN
Gene: COL8A2
Disease: CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 2 (OMIM:609140)
Association type: MENDELIAN
Gene: COL8A2
Disease: CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 1 (OMIM:136800)
Association type: MENDELIAN
Gene: COL8A2
Disease: Posterior polymorphous corneal dystrophy; PPCD; Posterior polymorphous dystrophy; Schlichting dystrophy (ORPHA:98973)
Association type: UNKNOWN
Gene: COL8A2
Disease: Fuchs endothelial corneal dystrophy; Endoepithelial corneal dystrophy; FECD; Late hereditary endothelial dystrophy (ORPHA:98974)
Association type: UNKNOWN
Gene: EPS8L3
Disease: HYPOTRICHOSIS 5 (OMIM:612841)
Association type: MENDELIAN
Gene: EPS8L3
Disease: Marie Unna hereditary hypotrichosis; Hypotrichosis, Marie Unna type; MUHH; Marie Unna congenital hypotrichosis (ORPHA:444)
Association type: UNKNOWN
Gene: FERMT3
Disease: LEUKOCYTE ADHESION DEFICIENCY, TYPE III (OMIM:612840)
Association type: MENDELIAN
Gene: FERMT3
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: FERMT3
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: FERMT3
Disease: Leukocyte adhesion deficiency type III; LAD-1 variant; LAD-III; Leukocyte adhesion deficiency-1 variant (ORPHA:99844)
Association type: UNKNOWN
Gene: PAPSS2
Disease: BRACHYOLMIA TYPE 4 WITH MILD EPIPHYSEAL AND METAPHYSEAL CHANGES (OMIM:612847)
Association type: MENDELIAN
Gene: PAPSS2
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: PAPSS2
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: PAPSS2
Disease: Spondyloepimetaphyseal dysplasia, PAPSS2 type; Spondyloepimetaphyseal dysplasia, Pakistani type (ORPHA:93282)
Association type: UNKNOWN
Gene: PAPSS2
Disease: Autosomal recessive brachyolmia; Brachyolmia, Hobaek/Toledo type (ORPHA:448242)
Association type: UNKNOWN
Gene: NCR3
Disease: MALARIA, MILD, SUSCEPTIBILITY TO (OMIM:609148)
Association type: POLYGENIC
Gene: EBP
Disease: MEND SYNDROME (OMIM:300960)
Association type: MENDELIAN
Gene: EBP
Disease: CHONDRODYSPLASIA PUNCTATA 2, X-LINKED DOMINANT (OMIM:302960)
Association type: MENDELIAN
Gene: EBP
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: EBP
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: EBP
Disease: MEND syndrome; Male EBP disorder with neurological defects (ORPHA:401973)
Association type: UNKNOWN
Gene: EBP
Disease: X-linked dominant chondrodysplasia punctata; CDPX2; CDPXD; CPXD; Chondrodystrophia calcificans congenita; Conradi-Hünermann-Happle syndrome; X-linked chondrodysplasia punctata type 2 (ORPHA:35173)
Association type: UNKNOWN
Gene: TAF1
Disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC 33 (OMIM:300966)
Association type: MENDELIAN
Gene: TAF1
Disease: DYSTONIA 3, TORSION, X-LINKED (OMIM:314250)
Association type: MENDELIAN
Gene: TAF1
Disease: TETRALOGY OF FALLOT (OMIM:187500)
Association type: MENDELIAN
Gene: TAF1
Disease: X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome (ORPHA:480907)
Association type: UNKNOWN
Gene: TAF1
Disease: X-linked dystonia-parkinsonism; DYT3; Lubag; Lubag syndrome; XDP (ORPHA:53351)
Association type: UNKNOWN
Gene: NONO
Disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC 34 (OMIM:300967)
Association type: MENDELIAN
Gene: NONO
Disease: TETRALOGY OF FALLOT (OMIM:187500)
Association type: MENDELIAN
Gene: NONO
Disease: MiT family translocation renal cell carcinoma; Carcinoma associated with MITF/TFE translocation; Translocation renal cell carcinoma (ORPHA:319308)
Association type: UNKNOWN
Gene: NONO
Disease: Macrocephaly-intellectual disability-left ventricular non compaction syndrome (ORPHA:466791)
Association type: UNKNOWN
Gene: CCDC22
Disease: RITSCHER-SCHINZEL SYNDROME 2 (OMIM:300963)
Association type: MENDELIAN
Gene: CCDC22
Disease: 3C syndrome; Craniocerebellocardiac dysplasia; Ritscher-Schinzel syndrome (ORPHA:7)
Association type: UNKNOWN
Gene: IL1RN
Disease: OSTEOMYELITIS, STERILE MULTIFOCAL, WITH PERIOSTITIS AND PUSTULOSIS (OMIM:612852)
Association type: MENDELIAN
Gene: IL1RN
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: IL1RN
Disease: MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 4 (OMIM:612628)
Association type: POLYGENIC
Gene: IL1RN
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: IL1RN
Disease: GASTRIC CANCER (OMIM:613659)
Association type: POLYGENIC
Gene: IL1RN
Disease: Sterile multifocal osteomyelitis with periostitis and pustulosis; Autoinflammatory disease due to interleukin-1 receptor antagonist deficiency; DIRA; Interleukin-1 receptor antagonist deficiency; OMPP (ORPHA:210115)
Association type: UNKNOWN
Gene: TYK2
Disease: IMMUNODEFICIENCY 35 (OMIM:611521)
Association type: MENDELIAN
Gene: TYK2
Disease: Lymphomatoid papulosis; LyP (ORPHA:98842)
Association type: UNKNOWN
Gene: TYK2
Disease: Primary cutaneous anaplastic large cell lymphoma; Primary C-ALCL; Regressive atypical histiocytosis (ORPHA:300865)
Association type: UNKNOWN
Gene: TYK2
Disease: Susceptibility to infection due to TYK2 deficiency (ORPHA:331226)
Association type: UNKNOWN
Gene: DDX3X
Disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, SNIJDERS BLOK TYPE (OMIM:300958)
Association type: MENDELIAN
Gene: DDX3X
Disease: Precursor T-cell acute lymphoblastic leukemia; Precursor T-cell acute lymphoblastic leukemia/lymphoma; Precursor T-cell acute lymphocytic leukemia; Precursor T-cell acute lymphocytic leukemia/lymphoma; T-ALL (ORPHA:99861)
Association type: UNKNOWN
Gene: DDX3X
Disease: Toriello-Carey syndrome; Corpus callosum agenesis-blepharophimosis-Robin sequence syndrome (ORPHA:3338)
Association type: UNKNOWN
Gene: DDX3X
Disease: X-linked intellectual disability-hypotonia-movement disorder syndrome (ORPHA:457260)
Association type: UNKNOWN
Gene: RARS2
Disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 6 (OMIM:611523)
Association type: MENDELIAN
Gene: RARS2
Disease: Pontocerebellar hypoplasia type 6; Fatal infantile encephalopathy with mitochondrial respiratory chain defects; PCH6 (ORPHA:166073)
Association type: UNKNOWN
Gene: NCSTN
Disease: ACNE INVERSA, FAMILIAL, 1 (OMIM:142690)
Association type: MENDELIAN
Gene: NCSTN
Disease: PASH syndrome; Pyoderma gangrenosum-acne-suppurative hidradenitis syndrome (ORPHA:289478)
Association type: UNKNOWN
Gene: HMBS
Disease: PORPHYRIA, ACUTE INTERMITTENT (OMIM:176000)
Association type: MENDELIAN
Gene: HMBS
Disease: ENCEPHALOPATHY, PORPHYRIA-RELATED (OMIM:620704)
Association type: MENDELIAN
Gene: HMBS
Disease: LEUKOENCEPHALOPATHY, PORPHYRIA-RELATED (OMIM:620711)
Association type: MENDELIAN
Gene: HMBS
Disease: Acute intermittent porphyria (ORPHA:79276)
Association type: UNKNOWN
Gene: MYO5B
Disease: DIARRHEA 2, WITH MICROVILLUS ATROPHY (OMIM:251850)
Association type: MENDELIAN
Gene: MYO5B
Disease: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 10 (OMIM:619868)
Association type: MENDELIAN
Gene: MYO5B
Disease: Progressive familial intrahepatic cholestasis type 1; Byler disease; FIC1 deficiency; PFIC1 (ORPHA:79306)
Association type: UNKNOWN
Gene: MYO5B
Disease: MYO5B-related progressive familial intrahepatic cholestasis; MYO5B deficiency (ORPHA:480491)
Association type: UNKNOWN
Gene: MYO5B
Disease: Microvillus inclusion disease; Congenital microvillous atrophy; Congenital microvillus atrophy; MVID; Microvillous inclusion disease (ORPHA:2290)
Association type: UNKNOWN
Gene: JUP
Disease: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 12 (OMIM:611528)
Association type: MENDELIAN
Gene: JUP
Disease: NAXOS DISEASE (OMIM:601214)
Association type: MENDELIAN
Gene: JUP
Disease: Lethal acantholytic erosive disorder (ORPHA:158687)
Association type: UNKNOWN
Gene: JUP
Disease: Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variant; ALVC; Arrhythmogenic cardiomyopathy dominant-left variant; Arrhythmogenic cardiomyopathy with left ventricular involvement; Familial isolated arrhythmogenic ventricular dysplasia, left-dominant form (ORPHA:293888)
Association type: UNKNOWN
Gene: JUP
Disease: Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variant; Familial isolated arrhythmogenic ventricular dysplasia, biventricular form (ORPHA:293899)
Association type: UNKNOWN
Gene: JUP
Disease: Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant; Familial isolated arrhytmogenic ventricular dysplasia, right dominant form (ORPHA:293910)
Association type: UNKNOWN
Gene: JUP
Disease: Naxos disease; KWWH type I; Keratoderma with woolly hair type I; Keratosis palmoplantaris with arrythmogenic cardiomyopathy; Naxos syndrome; Palmoplantar hyperkeratosis with arrythmogenic cardiomyopathy; Palmoplantar keratoderma with arrythmogenic cardiomyopathy (ORPHA:34217)
Association type: UNKNOWN
Gene: PRF1
Disease: APLASTIC ANEMIA (OMIM:609135)
Association type: MENDELIAN
Gene: PRF1
Disease: HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2 (OMIM:603553)
Association type: MENDELIAN
Gene: PRF1
Disease: LYMPHOMA, NON-HODGKIN, FAMILIAL (OMIM:605027)
Association type: MENDELIAN
Gene: PRF1
Disease: Idiopathic aplastic anemia; Idiopathic bone marrow failure (ORPHA:88)
Association type: UNKNOWN
Gene: PRF1
Disease: Fatal post-viral neurodegenerative disorder (ORPHA:391343)
Association type: UNKNOWN
Gene: PRF1
Disease: Familial hemophagocytic lymphohistiocytosis; Familial HLH (ORPHA:540)
Association type: UNKNOWN
Gene: NBN
Disease: APLASTIC ANEMIA (OMIM:609135)
Association type: MENDELIAN
Gene: NBN
Disease: LEUKEMIA, ACUTE LYMPHOBLASTIC (OMIM:613065)
Association type: MENDELIAN
Gene: NBN
Disease: NIJMEGEN BREAKAGE SYNDROME (OMIM:251260)
Association type: MENDELIAN
Gene: NBN
Disease: Hereditary breast and/or ovarian cancer syndrome (ORPHA:145)
Association type: UNKNOWN
Gene: NBN
Disease: Familial prostate cancer (ORPHA:1331)
Association type: UNKNOWN
Gene: NBN
Disease: Nijmegen breakage syndrome; AT V1; Ataxia-telangiectasia, variant 1; Berlin breakage syndrome; Immunodeficiency-microcephaly-chromosomal instability syndrome; Microcephaly-immunodeficiency-lymphoid malignancy syndrome; NBS; Seemanova syndrome type 2 (ORPHA:647)
Association type: UNKNOWN
Gene: SBDS
Disease: APLASTIC ANEMIA (OMIM:609135)
Association type: POLYGENIC
Gene: SBDS
Disease: SHWACHMAN-DIAMOND SYNDROME 1 (OMIM:260400)
Association type: MENDELIAN
Gene: SBDS
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: SBDS
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: SBDS
Disease: Idiopathic aplastic anemia; Idiopathic bone marrow failure (ORPHA:88)
Association type: UNKNOWN
Gene: SBDS
Disease: Shwachman-Diamond syndrome; Pancreatic insufficiency and bone marrow dysfunction; SDS; Shwachman syndrome; Shwachman-Bodian-Diamond syndrome (ORPHA:811)
Association type: UNKNOWN
Gene: SBDS
Disease: SBDS-related severe neonatal spondylometaphyseal dysplasia; SBDS-related severe neonatal SMD; Spondylometaphyseal dysplasia, Sedaghatian-like type (ORPHA:622934)
Association type: UNKNOWN
Gene: GARS1
Disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VA (OMIM:600794)
Association type: MENDELIAN
Gene: GARS1
Disease: SPINAL MUSCULAR ATROPHY, INFANTILE, JAMES TYPE (OMIM:619042)
Association type: MENDELIAN
Gene: GARS1
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2D (OMIM:601472)
Association type: MENDELIAN
Gene: GARS1
Disease: Autosomal dominant Charcot-Marie-Tooth disease type 2D; CMT2D (ORPHA:99938)
Association type: UNKNOWN
Gene: GARS1
Disease: Distal hereditary motor neuropathy type 5; Distal HMN V; Distal hereditary motor neuropathy type V; Distal spinal muscular atrophy type 5; dHMN5 (ORPHA:139536)
Association type: UNKNOWN
Gene: KCNJ10
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT (OMIM:600791)
Association type: MENDELIAN
Gene: KCNJ10
Disease: SEIZURES, SENSORINEURAL DEAFNESS, ATAXIA, MENTAL RETARDATION, AND ELECTROLYTE IMBALANCE (OMIM:612780)
Association type: MENDELIAN
Gene: KCNJ10
Disease: PENDRED SYNDROME (OMIM:274600)
Association type: MENDELIAN
Gene: KCNJ10
Disease: EAST syndrome; Epilepsy-ataxia-sensorineural deafness-tubulopathy syndrome; Epilepsy-ataxia-sensorineural hearing loss-tubulopathy syndrome; SeSAME syndrome; Seizures-sensorineural deafness-ataxia-intellectual disability-electrolyte imbalance syndrome; Seizures-sensorineural hearing loss-ataxia-intellectual disability-electrolyte imbalance syndrome (ORPHA:199343)
Association type: UNKNOWN
Gene: KCNJ10
Disease: Paroxysmal kinesigenic dyskinesia; Familial PKD; Familial paroxysmal kinesigenic dyskinesia; Paroxysmal kinesigenic choreathetosis (ORPHA:98809)
Association type: UNKNOWN
Gene: KCNJ10
Disease: Pendred syndrome; Goiter-deafness syndrome; Goiter-hearing loss syndrome (ORPHA:705)
Association type: UNKNOWN
Gene: FOXI1
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT (OMIM:600791)
Association type: MENDELIAN
Gene: FOXI1
Disease: PENDRED SYNDROME (OMIM:274600)
Association type: MENDELIAN
Gene: FOXI1
Disease: Pendred syndrome; Goiter-deafness syndrome; Goiter-hearing loss syndrome (ORPHA:705)
Association type: UNKNOWN
Gene: FOXI1
Disease: Autosomal recessive distal renal tubular acidosis; AR dRTA; Autosomal recessive distal RTA (ORPHA:402041)
Association type: UNKNOWN
Gene: SLC26A4
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT (OMIM:600791)
Association type: MENDELIAN
Gene: SLC26A4
Disease: PENDRED SYNDROME (OMIM:274600)
Association type: MENDELIAN