TaoMedAI/RareMedData huggingface dataset:
Gene: PRPH2
Disease: FUNDUS ALBIPUNCTATUS (OMIM:136880)
Association type: MENDELIAN
Gene: PRPH2
Disease: MACULAR DYSTROPHY, PATTERNED, 1 (OMIM:169150)
Association type: MENDELIAN
Gene: PRPH2
Disease: MACULAR DYSTROPHY, VITELLIFORM, 3 (OMIM:608161)
Association type: MENDELIAN
Gene: PRPH2
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: PRPH2
Disease: CHOROIDAL DYSTROPHY, CENTRAL AREOLAR 2 (OMIM:613105)
Association type: MENDELIAN
Gene: PRPH2
Disease: Butterfly-shaped pigment dystrophy; Butterfly-shaped pattern dystrophy; Butterfly-shaped pigmentary macular dystrophy (ORPHA:99001)
Association type: UNKNOWN
Gene: PRPH2
Disease: Multifocal pattern dystrophy simulating fundus flavimaculatus; Multifocal pattern dystrophy simulating Stargardt disease (ORPHA:99003)
Association type: UNKNOWN
Gene: PRPH2
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: PRPH2
Disease: Fundus albipunctatus (ORPHA:227796)
Association type: UNKNOWN
Gene: PRPH2
Disease: Retinitis punctata albescens; RPA (ORPHA:52427)
Association type: UNKNOWN
Gene: PRPH2
Disease: Central areolar choroidal dystrophy; Areolar atrophy of the macula; CACD; Central areolar choroidal sclerosis (ORPHA:75377)
Association type: UNKNOWN
Gene: PRPH2
Disease: Cone rod dystrophy (ORPHA:1872)
Association type: UNKNOWN
Gene: PRPH2
Disease: Retinitis pigmentosa (ORPHA:791)
Association type: UNKNOWN
Gene: PRPH2
Disease: Stargardt disease; Fundus flavimaculatus; Stargardt 1 (ORPHA:827)
Association type: UNKNOWN
Gene: ADCY10
Disease: HYPERCALCIURIA, ABSORPTIVE, 2 (OMIM:143870)
Association type: POLYGENIC
Gene: ADCY10
Disease: Idiopathic hypercalciuria (ORPHA:2197)
Association type: UNKNOWN
Gene: B3GALT6
Disease: AL-GAZALI SYNDROME (OMIM:609465)
Association type: MENDELIAN
Gene: B3GALT6
Disease: EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 2 (OMIM:615349)
Association type: MENDELIAN
Gene: B3GALT6
Disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Association type: MENDELIAN
Gene: B3GALT6
Disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Association type: MENDELIAN
Gene: B3GALT6
Disease: LARSEN SYNDROME (OMIM:150250)
Association type: MENDELIAN
Gene: B3GALT6
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: B3GALT6
Disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH OR WITHOUT FRACTURES (OMIM:271640)
Association type: MENDELIAN
Gene: B3GALT6
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: B3GALT6
Disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Association type: MENDELIAN
Gene: B3GALT6
Disease: Spondyloepimetaphyseal dysplasia with joint laxity, Beighton type; SEMD-JL1; SEMDJL1; Spondyloepimetaphyseal dysplasia with joint laxity type 1 (ORPHA:642099)
Association type: UNKNOWN
Gene: B3GALT6
Disease: B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome; B3GALT6-related spEDS; B3GALT6-related spondylodysplastic EDS; Beta3GalT6-deficient EDS; Ehlers-Danlos syndrome progeroid type 2; spEDS-B3GALT6 (ORPHA:536467)
Association type: UNKNOWN
Gene: PMP22
Disease: ROUSSY-LEVY HEREDITARY AREFLEXIC DYSTASIA (OMIM:180800)
Association type: MENDELIAN
Gene: PMP22
Disease: GUILLAIN-BARRE SYNDROME, FAMILIAL (OMIM:139393)
Association type: MENDELIAN
Gene: PMP22
Disease: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1A (OMIM:118220)
Association type: MENDELIAN
Gene: PMP22
Disease: NEUROPATHY, HEREDITARY, WITH LIABILITY TO PRESSURE PALSIES (OMIM:162500)
Association type: MENDELIAN
Gene: PMP22
Disease: CHARCOT-MARIE-TOOTH DISEASE AND DEAFNESS (OMIM:118300)
Association type: MENDELIAN
Gene: PMP22
Disease: HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS (OMIM:145900)
Association type: MENDELIAN
Gene: PMP22
Disease: Charcot-Marie-Tooth disease type 1E; CMT1E; Charcot-Marie-Tooth disease-deafness syndrome; Charcot-Marie-Tooth disease-hearing loss syndrome (ORPHA:90658)
Association type: UNKNOWN
Gene: PMP22
Disease: Charcot-Marie-Tooth disease type 1A; CMT1A; Microduplication 17p12 (ORPHA:101081)
Association type: UNKNOWN
Gene: PMP22
Disease: Roussy-Lévy syndrome; Hereditary areflexic dystasia, Roussy-Lévy type (ORPHA:3115)
Association type: UNKNOWN
Gene: PMP22
Disease: Dejerine-Sottas syndrome; Charcot-Marie-Tooth disease type 3; HMSN 3; HMSN III; Hereditary motor and sensory neuropathy type 3; Hereditary motor and sensory neuropathy type III (ORPHA:64748)
Association type: UNKNOWN
Gene: PMP22
Disease: Acute inflammatory demyelinating polyradiculoneuropathy; AIDP; Acute idiopathic demyelinating polyneuropathy; Acute inflammatory polyneuropathy; GBS, acute inflammatory demyelinating polyradiculoneuropathic form; Guillain-Barré syndrome, acute inflammatory demyelinating polyradiculoneuropathic form (ORPHA:98916)
Association type: UNKNOWN
Gene: PMP22
Disease: Hereditary neuropathy with liability to pressure palsies; Current pressure-sensitive neuropathy; HNPP; Heterozygous microdeletion 17p11.2p12; Potato-grubbing palsy; Tomaculous neuropathy; Tulip-bulb digger's palsy (ORPHA:640)
Association type: UNKNOWN
Gene: MPZ
Disease: ROUSSY-LEVY HEREDITARY AREFLEXIC DYSTASIA (OMIM:180800)
Association type: MENDELIAN
Gene: MPZ
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2I (OMIM:607677)
Association type: MENDELIAN
Gene: MPZ
Disease: NEUROPATHY, CONGENITAL HYPOMYELINATING, 2 (OMIM:618184)
Association type: MENDELIAN
Gene: MPZ
Disease: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B (OMIM:118200)
Association type: MENDELIAN
Gene: MPZ
Disease: HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS (OMIM:145900)
Association type: MENDELIAN
Gene: MPZ
Disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE D (OMIM:607791)
Association type: MENDELIAN
Gene: MPZ
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2J (OMIM:607736)
Association type: MENDELIAN
Gene: MPZ
Disease: Charcot-Marie-Tooth disease type 1B; CMT1B (ORPHA:101082)
Association type: UNKNOWN
Gene: MPZ
Disease: Palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome; Palmoplantar keratoderma-Charcot-Marie-Tooth syndrome (ORPHA:538574)
Association type: UNKNOWN
Gene: MPZ
Disease: Autosomal dominant Charcot-Marie-Tooth disease type 2I; CMT2I (ORPHA:99942)
Association type: UNKNOWN
Gene: MPZ
Disease: Autosomal dominant Charcot-Marie-Tooth disease type 2J; CMT2J (ORPHA:99943)
Association type: UNKNOWN
Gene: MPZ
Disease: Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain; Autosomal dominant intermediate CMT disease with neuropathic pain (ORPHA:324585)
Association type: UNKNOWN
Gene: MPZ
Disease: Roussy-Lévy syndrome; Hereditary areflexic dystasia, Roussy-Lévy type (ORPHA:3115)
Association type: UNKNOWN
Gene: MPZ
Disease: Dejerine-Sottas syndrome; Charcot-Marie-Tooth disease type 3; HMSN 3; HMSN III; Hereditary motor and sensory neuropathy type 3; Hereditary motor and sensory neuropathy type III (ORPHA:64748)
Association type: UNKNOWN
Gene: MPZ
Disease: Autosomal dominant intermediate Charcot-Marie-Tooth disease type D; CMTDID (ORPHA:100046)
Association type: UNKNOWN
Gene: ATP1A3
Disease: DYSTONIA 12 (OMIM:128235)
Association type: MENDELIAN
Gene: ATP1A3
Disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 99 (OMIM:619606)
Association type: MENDELIAN
Gene: ATP1A3
Disease: CEREBELLAR ATAXIA, AREFLEXIA, PES CAVUS, OPTIC ATROPHY, AND SENSORINEURAL HEARING LOSS (OMIM:601338)
Association type: MENDELIAN
Gene: ATP1A3
Disease: ALTERNATING HEMIPLEGIA OF CHILDHOOD 2 (OMIM:614820)
Association type: MENDELIAN
Gene: ATP1A3
Disease: Rapid-onset dystonia-parkinsonism; DYT12; Dystonia 12 (ORPHA:71517)
Association type: UNKNOWN
Gene: ATP1A3
Disease: Non-specific early-onset epileptic encephalopathy; Non-specific EOEE; Undetermined EOEE; Undetermined early-onset epileptic encephalopathy (ORPHA:442835)
Association type: UNKNOWN
Gene: ATP1A3
Disease: Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome; CAPOS syndrome; Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural deafness syndrome (ORPHA:1171)
Association type: UNKNOWN
Gene: ATP1A3
Disease: Alternating hemiplegia of childhood; AHC (ORPHA:2131)
Association type: UNKNOWN
Gene: RECQL4
Disease: ROTHMUND-THOMSON SYNDROME, TYPE 2 (OMIM:268400)
Association type: MENDELIAN
Gene: RECQL4
Disease: BALLER-GEROLD SYNDROME (OMIM:218600)
Association type: MENDELIAN
Gene: RECQL4
Disease: RAPADILINO SYNDROME (OMIM:266280)
Association type: MENDELIAN
Gene: RECQL4
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: RECQL4
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: RECQL4
Disease: RAPADILINO syndrome (ORPHA:3021)
Association type: UNKNOWN
Gene: RECQL4
Disease: Baller-Gerold syndrome (ORPHA:1225)
Association type: UNKNOWN
Gene: RECQL4
Disease: Rothmund-Thomson syndrome type 2; Poikiloderma of Rothmund-Thomson type 2; RTS2 (ORPHA:221016)
Association type: UNKNOWN
Gene: MUC5B
Disease: PULMONARY FIBROSIS, IDIOPATHIC (OMIM:178500)
Association type: POLYGENIC
Gene: MUC5B
Disease: Diffuse panbronchiolitis (ORPHA:171700)
Association type: UNKNOWN
Gene: MUC5B
Disease: Idiopathic pulmonary fibrosis; IPF (ORPHA:2032)
Association type: UNKNOWN
Gene: MUC5B
Disease: Hypersensitivity pneumonitis; Extrinsic allergic alveolitis (ORPHA:31740)
Association type: UNKNOWN
Gene: SFTPC
Disease: PULMONARY FIBROSIS, IDIOPATHIC (OMIM:178500)
Association type: MENDELIAN
Gene: SFTPC
Disease: SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2 (OMIM:610913)
Association type: MENDELIAN
Gene: SFTPC
Disease: Pediatric acute respiratory distress syndrome; PARDS; Pediatric ARDS (ORPHA:685082)
Association type: UNKNOWN
Gene: SFTPC
Disease: Chronic respiratory distress with surfactant metabolism deficiency (ORPHA:217566)
Association type: UNKNOWN
Gene: SFTPC
Disease: Idiopathic pulmonary fibrosis; IPF (ORPHA:2032)
Association type: UNKNOWN
Gene: SFTPC
Disease: Interstitial lung disease due to SP-C deficiency; Interstitial lung disease due to surfactant protein C deficiency (ORPHA:440392)
Association type: UNKNOWN
Gene: SFTPA2
Disease: PULMONARY FIBROSIS, IDIOPATHIC (OMIM:178500)
Association type: MENDELIAN
Gene: SFTPA2
Disease: Idiopathic pulmonary fibrosis; IPF (ORPHA:2032)
Association type: UNKNOWN
Gene: TERC
Disease: PULMONARY FIBROSIS, IDIOPATHIC (OMIM:178500)
Association type: MENDELIAN
Gene: TERC
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1 (OMIM:127550)
Association type: MENDELIAN
Gene: TERC
Disease: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 2 (OMIM:614743)
Association type: MENDELIAN
Gene: TERC
Disease: Idiopathic aplastic anemia; Idiopathic bone marrow failure (ORPHA:88)
Association type: UNKNOWN
Gene: TERC
Disease: Idiopathic pulmonary fibrosis; IPF (ORPHA:2032)
Association type: UNKNOWN
Gene: TERC
Disease: Dyskeratosis congenita; DC; DKC; Zinsser-Engman-Cole syndrome (ORPHA:1775)
Association type: UNKNOWN
Gene: TERT
Disease: PULMONARY FIBROSIS, IDIOPATHIC (OMIM:178500)
Association type: MENDELIAN
Gene: TERT
Disease: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 9 (OMIM:615134)
Association type: POLYGENIC
Gene: TERT
Disease: APLASTIC ANEMIA (OMIM:609135)
Association type: MENDELIAN
Gene: TERT
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2 (OMIM:613989)
Association type: MENDELIAN
Gene: TERT
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1 (OMIM:127550)
Association type: MENDELIAN
Gene: TERT
Disease: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1 (OMIM:614742)
Association type: MENDELIAN
Gene: TERT
Disease: LEUKEMIA, ACUTE MYELOID (OMIM:601626)
Association type: POLYGENIC
Gene: TERT
Disease: Idiopathic aplastic anemia; Idiopathic bone marrow failure (ORPHA:88)
Association type: UNKNOWN
Gene: TERT
Disease: Adrenocortical carcinoma; ACC (ORPHA:1501)
Association type: UNKNOWN
Gene: TERT
Disease: Idiopathic pulmonary fibrosis; IPF (ORPHA:2032)
Association type: UNKNOWN
Gene: TERT
Disease: Hoyeraal-Hreidarsson syndrome; Progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome (ORPHA:3322)
Association type: UNKNOWN
Gene: TERT
Disease: Differentiated thyroid carcinoma; Papillary or follicular thyroid carcinoma; Well-differentiated thyroid carcinoma (ORPHA:146)
Association type: UNKNOWN
Gene: TERT
Disease: Familial melanoma (ORPHA:618)
Association type: UNKNOWN
Gene: TERT
Disease: Meningioma (ORPHA:2495)
Association type: UNKNOWN
Gene: TERT
Disease: Clear cell sarcoma of kidney; CCSK (ORPHA:457246)
Association type: UNKNOWN
Gene: TERT
Disease: Dyskeratosis congenita; DC; DKC; Zinsser-Engman-Cole syndrome (ORPHA:1775)
Association type: UNKNOWN
Gene: UBE3B
Disease: KAUFMAN OCULOCEREBROFACIAL SYNDROME (OMIM:244450)
Association type: MENDELIAN
Gene: UBE3B
Disease: Oculocerebrofacial syndrome, Kaufman type (ORPHA:2707)
Association type: UNKNOWN
Gene: ATXN2
Disease: SPINOCEREBELLAR ATAXIA 2 (OMIM:183090)
Association type: MENDELIAN
Gene: ATXN2
Disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Association type: POLYGENIC
Gene: ATXN2
Disease: Spinocerebellar ataxia type 2; SCA2 (ORPHA:98756)
Association type: UNKNOWN
Gene: ATXN2
Disease: Amyotrophic lateral sclerosis; ALS; Charcot disease; Lou Gehrig disease (ORPHA:803)
Association type: UNKNOWN
Gene: CHRNA2
Disease: EPILEPSY, NOCTURNAL FRONTAL LOBE, 4 (OMIM:610353)
Association type: MENDELIAN
Gene: CHRNA2
Disease: Autosomal dominant nocturnal frontal lobe epilepsy; ADNFLE; Autosomal dominant sleep-related hypermotor epilepsy (ORPHA:98784)
Association type: UNKNOWN
Gene: KCNV2
Disease: RETINAL CONE DYSTROPHY 3B (OMIM:610356)
Association type: MENDELIAN
Gene: KCNV2
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: KCNV2
Disease: Cone dystrophy with supernormal rod response; Cone dystrophy with supernormal rod ERG; Cone dystrophy with supernormal rod electroretinogram; Cone dystrophy with supernormal scotopic electroretinogram (ORPHA:209932)
Association type: UNKNOWN
Gene: KIF1A
Disease: SPASTIC PARAPLEGIA 30, AUTOSOMAL DOMINANT (OMIM:610357)
Association type: MENDELIAN
Gene: KIF1A
Disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIA (OMIM:201300)
Association type: MENDELIAN
Gene: KIF1A
Disease: NEUROPATHY, HEREDITARY SENSORY, TYPE IIC (OMIM:614213)
Association type: MENDELIAN
Gene: KIF1A
Disease: NESCAV SYNDROME (OMIM:614255)
Association type: MENDELIAN
Gene: KIF1A
Disease:  (OMIM:620607)
Association type: MENDELIAN
Gene: KIF1A
Disease: Autosomal dominant non-syndromic intellectual disability (ORPHA:178469)
Association type: UNKNOWN
Gene: KIF1A
Disease: Autosomal spastic paraplegia type 30; SPG30 (ORPHA:101010)
Association type: UNKNOWN
Gene: KIF1A
Disease: NESCAV syndrome; Neurodegeneration-spasticity-cerebellar atrophy-cortical visual impairment syndrome (ORPHA:662367)
Association type: UNKNOWN
Gene: KIF1A
Disease: Hereditary sensory and autonomic neuropathy type 2; Autosomal recessive sensory radicular neuropathy; HSAN2; Hereditary sensory and autonomic neuropathy type II; Neurogenic acroosteolysis (ORPHA:970)
Association type: UNKNOWN
Gene: COL4A4
Disease: HEMATURIA, BENIGN FAMILIAL (OMIM:141200)
Association type: MENDELIAN
Gene: COL4A4
Disease: ALPORT SYNDROME 1, X-LINKED (OMIM:301050)
Association type: MENDELIAN
Gene: COL4A4
Disease: ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE (OMIM:203780)
Association type: MENDELIAN
Gene: COL4A4
Disease: Digenic Alport syndrome (ORPHA:653722)
Association type: UNKNOWN
Gene: COL4A4
Disease: Autosomal recessive Alport syndrome (ORPHA:88919)
Association type: UNKNOWN
Gene: COL4A4
Disease: Autosomal dominant Alport syndrome (ORPHA:88918)
Association type: UNKNOWN
Gene: PDCD1
Disease:  (OMIM:621004)
Association type: MENDELIAN
Gene: PDCD1
Disease: Systemic lupus erythematosus; Disseminated lupus erythematosus; SLE (ORPHA:536)
Association type: UNKNOWN
Gene: SNRNP200
Disease: RETINITIS PIGMENTOSA 33 (OMIM:610359)
Association type: MENDELIAN
Gene: SNRNP200
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: SNRNP200
Disease: Retinitis pigmentosa (ORPHA:791)
Association type: UNKNOWN
Gene: SPATA22
Disease:  (OMIM:621002)
Association type: MENDELIAN
Gene: SPATA22
Disease:  (OMIM:621001)
Association type: MENDELIAN
Gene: CA12
Disease: HYPERCHLORHIDROSIS, ISOLATED (OMIM:143860)
Association type: MENDELIAN
Gene: CA12
Disease: Isolated hyperchlorhidrosis; Carbonic anhydrase XII deficiency (ORPHA:542657)
Association type: UNKNOWN
Gene: LDB3
Disease: MYOPATHY, MYOFIBRILLAR, 4 (OMIM:609452)
Association type: MENDELIAN
Gene: LDB3
Disease:  (OMIM:621237)
Association type: MENDELIAN
Gene: LDB3
Disease: CARDIOMYOPATHY, DILATED, 1C, WITH OR WITHOUT LEFT VENTRICULAR NONCOMPACTION (OMIM:601493)
Association type: MENDELIAN
Gene: LDB3
Disease: Left ventricular noncompaction; LVNC; Left ventricular hypertrabeculation; Spongy myocardium (ORPHA:54260)
Association type: UNKNOWN
Gene: LDB3
Disease: Familial isolated dilated cardiomyopathy; Familial or idiopathic dilated cardiomyopathy (ORPHA:154)
Association type: UNKNOWN
Gene: LDB3
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: LDB3
Disease: Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variant; Familial isolated arrhythmogenic ventricular dysplasia, biventricular form (ORPHA:293899)
Association type: UNKNOWN
Gene: LDB3
Disease: Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant; Familial isolated arrhytmogenic ventricular dysplasia, right dominant form (ORPHA:293910)
Association type: UNKNOWN
Gene: LDB3
Disease: Late-onset distal myopathy, Markesbery-Griggs type; ZASP-related myofibrillar myopathy (ORPHA:98912)
Association type: UNKNOWN
Gene: DSTYK
Disease: SPASTIC PARAPLEGIA 23, AUTOSOMAL RECESSIVE (OMIM:270750)
Association type: MENDELIAN
Gene: DSTYK
Disease: CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT 1 (OMIM:610805)
Association type: MENDELIAN
Gene: DSTYK
Disease: Autosomal recessive spastic paraplegia type 23; Lison syndrome; SPG23; Spastic paraparesis-vitiligo-premature graying-characteristic facies syndrome (ORPHA:101003)
Association type: UNKNOWN
Gene: DSTYK
Disease: Renal agenesis, unilateral (ORPHA:93100)
Association type: UNKNOWN
Gene: SLC30A2
Disease: ZINC DEFICIENCY, TRANSIENT NEONATAL (OMIM:608118)
Association type: MENDELIAN
Gene: NSD1
Disease: SOTOS SYNDROME 1 (OMIM:117550)
Association type: MENDELIAN
Gene: NSD1
Disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Association type: MENDELIAN
Gene: NSD1
Disease: TETRALOGY OF FALLOT (OMIM:187500)
Association type: MENDELIAN
Gene: NSD1
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: NSD1
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: NSD1
Disease: Sotos syndrome; Cerebral gigantism (ORPHA:821)
Association type: UNKNOWN
Gene: NSD1
Disease: Deletion 5q35 syndrome; Del (5)(q35); Del (5)(qter); Distal 5q deletion; Monosomy 5q35; Telomeric deletion 5q (ORPHA:1627)
Association type: UNKNOWN
Gene: NSD1
Disease: Weaver syndrome; EZH2-related overgrowth syndrome; Syndrome d'hypercroissance associé à EZH2 (ORPHA:3447)
Association type: UNKNOWN
Gene: NSD1
Disease: 5q35 microduplication syndrome; Dup(5)(q35); Trisomy 5q35 (ORPHA:228415)
Association type: UNKNOWN
Gene: NSD1
Disease: Beckwith-Wiedemann syndrome due to NSD1 mutation (ORPHA:238613)
Association type: UNKNOWN
Gene: SLC4A1
Disease: RENAL TUBULAR ACIDOSIS, DISTAL, 1 (OMIM:179800)
Association type: MENDELIAN
Gene: SLC4A1
Disease: RENAL TUBULAR ACIDOSIS, DISTAL, 4, WITH HEMOLYTIC ANEMIA (OMIM:611590)
Association type: MENDELIAN
Gene: SLC4A1
Disease: SPHEROCYTOSIS, TYPE 4 (OMIM:612653)
Association type: MENDELIAN
Gene: SLC4A1
Disease: BLOOD GROUP, DIEGO SYSTEM (OMIM:110500)
Association type: MENDELIAN
Gene: SLC4A1
Disease: OVALOCYTOSIS, SOUTHEAST ASIAN (OMIM:166900)
Association type: MENDELIAN
Gene: SLC4A1
Disease: CRYOHYDROCYTOSIS (OMIM:185020)
Association type: MENDELIAN
Gene: SLC4A1
Disease: BLOOD GROUP--WALDNER TYPE (OMIM:112010)
Association type: MENDELIAN
Gene: SLC4A1
Disease: BLOOD GROUP--WRIGHT ANTIGEN (OMIM:112050)
Association type: MENDELIAN
Gene: SLC4A1
Disease: MALARIA, SUSCEPTIBILITY TO (OMIM:611162)
Association type: POLYGENIC
Gene: SLC4A1
Disease: BLOOD GROUP--SWANN SYSTEM (OMIM:601550)
Association type: MENDELIAN
Gene: SLC4A1
Disease: BLOOD GROUP--FROESE (OMIM:601551)
Association type: MENDELIAN
Gene: SLC4A1
Disease: Dehydrated hereditary stomatocytosis; Hereditary xerocytosis (ORPHA:3202)
Association type: UNKNOWN
Gene: SLC4A1
Disease: Southeast Asian ovalocytosis; Hereditary ovalocytosis; Melanesian elliptocytosis; Melanesian ovalocytosis; SAO; Stomatocytic elliptocytosis (ORPHA:98868)
Association type: UNKNOWN
Gene: SLC4A1
Disease: Hereditary cryohydrocytosis with normal stomatin (ORPHA:398088)
Association type: UNKNOWN
Gene: SLC4A1
Disease: Hereditary spherocytosis; Minkowski-Chauffard disease (ORPHA:822)
Association type: UNKNOWN
Gene: SLC4A1
Disease: Distal renal tubular acidosis with anemia; dRTA with anemia (ORPHA:93610)
Association type: UNKNOWN
Gene: SLC4A1
Disease: Autosomal dominant distal renal tubular acidosis; AD dRTA (ORPHA:93608)
Association type: UNKNOWN
Gene: APOA2
Disease: HYPERCHOLESTEROLEMIA, FAMILIAL, 1 (OMIM:143890)
Association type: POLYGENIC
Gene: APOA2
Disease: AApoAII amyloidosis; Apolipoprotein A-II amyloidosis; Familial amyloid nephropathy due to apolipoprotein A-II variant; Familial renal amyloidosis due to apolipoprotein A-II variant; Hereditary amyloid nephropathy due to apolipoprotein A-II variant; Hereditary renal amyloidosis due to apolipoprotein A-II variant (ORPHA:238269)
Association type: UNKNOWN
Gene: EPHX2
Disease: HYPERCHOLESTEROLEMIA, FAMILIAL, 1 (OMIM:143890)
Association type: POLYGENIC
Gene: PPP1R17
Disease: HYPERCHOLESTEROLEMIA, FAMILIAL, 1 (OMIM:143890)
Association type: POLYGENIC
Gene: LDLR
Disease: HYPERCHOLESTEROLEMIA, FAMILIAL, 1 (OMIM:143890)
Association type: MENDELIAN
Gene: LDLR
Disease: Homozygous familial hypercholesterolemia; HoFH (ORPHA:391665)
Association type: UNKNOWN
Gene: GHR
Disease: HYPERCHOLESTEROLEMIA, FAMILIAL, 1 (OMIM:143890)
Association type: POLYGENIC
Gene: GHR
Disease: LARON SYNDROME (OMIM:262500)
Association type: MENDELIAN
Gene: GHR
Disease: GROWTH HORMONE INSENSITIVITY, PARTIAL (OMIM:604271)
Association type: MENDELIAN
Gene: GHR
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: GHR
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: GHR
Disease: Short stature due to partial GHR deficiency; Short stature due to partial growth hormone receptor deficiency (ORPHA:314802)
Association type: UNKNOWN
Gene: GHR
Disease: Laron syndrome; Complete growth hormone insensitivity; GH receptor deficiency; Growth hormone receptor deficiency; Laron-type dwarfism; Primary GH insensitivity; Primary GH resistance; Primary growth hormone insensitivity; Primary growth hormone resistance; Short stature due to growth hormone resistance (ORPHA:633)
Association type: UNKNOWN
Gene: CMPK2
Disease:  (OMIM:621018)
Association type: MENDELIAN
Gene: CMPK2
Disease: Bilateral striopallidodentate calcinosis; BSPDC; Cerebrovascular ferrocalcinosis; Idiopathic basal ganglia calcification; PFBC; Primary familial brain calcification (ORPHA:1980)
Association type: UNKNOWN
Gene: WDR83OS
Disease:  (OMIM:621016)
Association type: MENDELIAN
Gene: KCNMA1
Disease: PAROXYSMAL NONKINESIGENIC DYSKINESIA, 3, WITH OR WITHOUT GENERALIZED EPILEPSY (OMIM:609446)
Association type: MENDELIAN
Gene: KCNMA1
Disease: CEREBELLAR ATROPHY, DEVELOPMENTAL DELAY, AND SEIZURES (OMIM:617643)
Association type: MENDELIAN
Gene: KCNMA1
Disease: LIANG-WANG SYNDROME (OMIM:618729)
Association type: MENDELIAN
Gene: KCNMA1
Disease: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 16 (OMIM:618596)
Association type: POLYGENIC