TaoMedAI/RareMedData huggingface dataset:
Gene: HLA-DRB1
Disease: Giant cell arteritis; Horton disease; Temporal arteritis (ORPHA:397)
Association type: UNKNOWN
Gene: HLA-DRB1
Disease: Limited systemic sclerosis; Systemic sclerosis sine scleroderma (ORPHA:220407)
Association type: UNKNOWN
Gene: HLA-DRB1
Disease: Limited cutaneous systemic sclerosis; Limited cutaneous systemic scleroderma (ORPHA:220402)
Association type: UNKNOWN
Gene: HLA-DRB1
Disease: Narcolepsy type 2; Narcolepsy without cataplexy (ORPHA:83465)
Association type: UNKNOWN
Gene: HLA-DRB1
Disease: Diffuse cutaneous systemic sclerosis; Diffuse cutaneous systemic scleroderma; Progressive cutaneous systemic scleroderma; Progressive cutaneous systemic sclerosis (ORPHA:220393)
Association type: UNKNOWN
Gene: HLA-DRB1
Disease: Systemic-onset juvenile idiopathic arthritis; Still disease; Systemic-onset JIA (ORPHA:85414)
Association type: UNKNOWN
Gene: HLA-DRB1
Disease: Sarcoidosis; Besnier-Boeck-Schaumann disease; Boeck sarcoid (ORPHA:797)
Association type: UNKNOWN
Gene: HLA-DRB1
Disease: Autoimmune pulmonary alveolar proteinosis; Autoimmune PAP; aPAP (ORPHA:747)
Association type: UNKNOWN
Gene: HLA-DRB1
Disease: Bullous pemphigoid (ORPHA:703)
Association type: UNKNOWN
Gene: HLA-DRB1
Disease: Follicular lymphoma (ORPHA:545)
Association type: UNKNOWN
Gene: HLA-DRB1
Disease: Systemic lupus erythematosus; Disseminated lupus erythematosus; SLE (ORPHA:536)
Association type: UNKNOWN
Gene: HLA-DRB1
Disease: Narcolepsy type 1; Gélineau disease; Hypocretin/orexin deficiency syndrome; Narcolepsy-cataplexy (ORPHA:2073)
Association type: UNKNOWN
Gene: HLA-DRB1
Disease: Vogt-Koyanagi-Harada disease; Uveomenigitic syndrome (ORPHA:3437)
Association type: UNKNOWN
Gene: HLA-DRB1
Disease: Pediatric multiple sclerosis (ORPHA:477738)
Association type: UNKNOWN
Gene: TUBB8
Disease: OOCYTE MATURATION DEFECT 2 (OMIM:616780)
Association type: MENDELIAN
Gene: TUBB8
Disease: Female infertility due to oocyte meiotic arrest (ORPHA:488191)
Association type: UNKNOWN
Gene: KATNIP
Disease: JOUBERT SYNDROME 26 (OMIM:616784)
Association type: MENDELIAN
Gene: KATNIP
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: CYC1
Disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6 (OMIM:615453)
Association type: MENDELIAN
Gene: CYC1
Disease: Isolated complex III deficiency; Isolated CoQ-cytochrome C reductase deficiency; Isolated coenzyme Q-cytochrome C reductase deficiency; Isolated mitochondrial respiratory chain complex III deficiency; Isolated ubiquinone-cytochrome C reductase deficiency (ORPHA:1460)
Association type: UNKNOWN
Gene: CHIT1
Disease: CHITOTRIOSIDASE DEFICIENCY (OMIM:614122)
Association type: MENDELIAN
Gene: CEP104
Disease: JOUBERT SYNDROME 25 (OMIM:616781)
Association type: MENDELIAN
Gene: CEP104
Disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 77 (OMIM:619988)
Association type: MENDELIAN
Gene: CEP104
Disease: Autosomal recessive non-syndromic intellectual disability; AR-NSID; NS-ARID (ORPHA:88616)
Association type: UNKNOWN
Gene: CEP104
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: ODAD2
Disease: CILIARY DYSKINESIA, PRIMARY, 23 (OMIM:615451)
Association type: MENDELIAN
Gene: ODAD2
Disease: Primary ciliary dyskinesia; PCD (ORPHA:244)
Association type: UNKNOWN
Gene: DLX4
Disease: OROFACIAL CLEFT 15 (OMIM:616788)
Association type: MENDELIAN
Gene: DLX4
Disease: Cleft lip/palate; Alveolar cleft lip and palate; Cleft lip and palate; Cleft lip-alveolus-palate syndrome; FLP (ORPHA:199306)
Association type: UNKNOWN
Gene: MRAP2
Disease: BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 18 (OMIM:615457)
Association type: POLYGENIC
Gene: CLPP
Disease: PERRAULT SYNDROME 3 (OMIM:614129)
Association type: MENDELIAN
Gene: CLPP
Disease: Perrault syndrome type 2; XX gonadal dysgenesis-deafness syndrome-progressive neurological manifestations (ORPHA:642976)
Association type: UNKNOWN
Gene: CLPP
Disease: Perrault syndrome type 1; XX gonadal dysgenesis-deafness syndrome-without neurological manifestations (ORPHA:642945)
Association type: UNKNOWN
Gene: ADAMTS18
Disease: MICROCORNEA, MYOPIC CHORIORETINAL ATROPHY, AND TELECANTHUS (OMIM:615458)
Association type: MENDELIAN
Gene: ADAMTS18
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: ADAMTS18
Disease: Microcornea-myopic chorioretinal atrophy-telecanthus syndrome; MMCAT syndrome (ORPHA:369970)
Association type: UNKNOWN
Gene: MED13L
Disease: MENTAL RETARDATION AND DISTINCTIVE FACIAL FEATURES WITH OR WITHOUT CARDIAC DEFECTS (OMIM:616789)
Association type: MENDELIAN
Gene: MED13L
Disease: TETRALOGY OF FALLOT (OMIM:187500)
Association type: MENDELIAN
Gene: MED13L
Disease: Isolated congenitally uncorrected transposition of the great arteries; Isolated congenitally uncorrected transposition of the great vessels (ORPHA:216718)
Association type: UNKNOWN
Gene: MED13L
Disease: Developmental delay-facial dysmorphism syndrome due to MED13L deficiency; MED13L-related intellectual disability syndrome (ORPHA:369891)
Association type: UNKNOWN
Gene: LDHB
Disease: LACTATE DEHYDROGENASE B DEFICIENCY (OMIM:614128)
Association type: MENDELIAN
Gene: LDHB
Disease: Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency; GSD due to lactate dehydrogenase H-subunit deficiency; Glycogenosis due to lactate dehydrogenase H-subunit deficiency; LDH-H subunit deficiency; Lactate dehydrogenase B deficiency (ORPHA:284435)
Association type: UNKNOWN
Gene: CACNA1G
Disease: SPINOCEREBELLAR ATAXIA 42 (OMIM:616795)
Association type: MENDELIAN
Gene: CACNA1G
Disease: SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS (OMIM:618087)
Association type: MENDELIAN
Gene: CACNA1G
Disease: Spinocerebellar ataxia type 42; SCA42 (ORPHA:458803)
Association type: UNKNOWN
Gene: SLC25A26
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 28 (OMIM:616794)
Association type: MENDELIAN
Gene: SLC25A26
Disease: Neonatal severe cardiopulmonary failure due to mitochondrial methylation defect; COXPD28; Combined oxidative phosphorylation defect type 28 (ORPHA:466784)
Association type: UNKNOWN
Gene: MYO1E
Disease: FOCAL SEGMENTAL GLOMERULOSCLEROSIS 6 (OMIM:614131)
Association type: MENDELIAN
Gene: MYO1E
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: MALT1
Disease: IMMUNODEFICIENCY 12 (OMIM:615468)
Association type: MENDELIAN
Gene: MALT1
Disease: MALT lymphoma; Extranodal marginal zone B-cell lymphoma; MALToma; Mucosa-associated lymphatic tissue lymphoma; Mucosa-associated lymphoid tissue lymphoma (ORPHA:52417)
Association type: UNKNOWN
Gene: MALT1
Disease: Combined immunodeficiency due to MALT1 deficiency (ORPHA:397964)
Association type: UNKNOWN
Gene: MT-CO1
Disease: DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL (OMIM:500008)
Association type: MENDELIAN
Gene: MT-CO1
Disease: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES (OMIM:540000)
Association type: MENDELIAN
Gene: MT-CO1
Disease: Rare mitochondrial non-syndromic sensorineural deafness; Isolated mitochondrial neurosensory deafness; Isolated mitochondrial neurosensory hearing loss; Isolated mitochondrial sensorineural deafness; Isolated mitochondrial sensorineural hearing loss; Mitochondrial non-syndromic neurosensory deafness; Mitochondrial non-syndromic neurosensory hearing loss; Mitochondrial non-syndromic sensorineural hearing loss (ORPHA:90641)
Association type: UNKNOWN
Gene: MT-CO1
Disease: Genetic recurrent myoglobinuria (ORPHA:99845)
Association type: UNKNOWN
Gene: MT-CO1
Disease: Leber hereditary optic neuropathy; LHON; Leber optic atrophy (ORPHA:104)
Association type: UNKNOWN
Gene: MT-CO1
Disease: Isolated cytochrome C oxidase deficiency; Isolated COX deficiency; Isolated mitochondrial respiratory chain complex IV deficiency (ORPHA:254905)
Association type: UNKNOWN
Gene: MT-CO1
Disease: MELAS; Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes; Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes; Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (ORPHA:550)
Association type: UNKNOWN
Gene: MT-RNR1
Disease: DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL (OMIM:500008)
Association type: MENDELIAN
Gene: MT-RNR1
Disease: Rare mitochondrial non-syndromic sensorineural deafness; Isolated mitochondrial neurosensory deafness; Isolated mitochondrial neurosensory hearing loss; Isolated mitochondrial sensorineural deafness; Isolated mitochondrial sensorineural hearing loss; Mitochondrial non-syndromic neurosensory deafness; Mitochondrial non-syndromic neurosensory hearing loss; Mitochondrial non-syndromic sensorineural hearing loss (ORPHA:90641)
Association type: UNKNOWN
Gene: MT-RNR1
Disease: MERRF; Fukuhara syndrome; Myoclonus epilepsy associated with ragged-red fibres (ORPHA:551)
Association type: UNKNOWN
Gene: ANKLE2
Disease: MICROCEPHALY 16, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:616681)
Association type: MENDELIAN
Gene: ANKLE2
Disease: Autosomal recessive primary microcephaly; MCPH; Microcephalia vera; Microcephaly vera; True microcephaly (ORPHA:2512)
Association type: UNKNOWN
Gene: MAG
Disease: SPASTIC PARAPLEGIA 75, AUTOSOMAL RECESSIVE (OMIM:616680)
Association type: MENDELIAN
Gene: MAG
Disease: Autosomal recessive spastic paraplegia type 75; SPG75 (ORPHA:459056)
Association type: UNKNOWN
Gene: GMPPB
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14 (OMIM:615350)
Association type: MENDELIAN
Gene: GMPPB
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 14 (OMIM:615351)
Association type: MENDELIAN
Gene: GMPPB
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14 (OMIM:615352)
Association type: MENDELIAN
Gene: GMPPB
Disease: Congenital muscular dystrophy with intellectual disability; CMD with intellectual disability; CMD-MR (ORPHA:370968)
Association type: UNKNOWN
Gene: GMPPB
Disease: Congenital muscular dystrophy with cerebellar involvement; CMD with cerebellar involvement; CMD-CRB (ORPHA:370959)
Association type: UNKNOWN
Gene: GMPPB
Disease: Congenital myasthenic syndromes with glycosylation defect (ORPHA:353327)
Association type: UNKNOWN
Gene: GMPPB
Disease: Muscle-eye-brain disease; MEB syndrome; Muscle-eye-brain syndrome; Santavuori congenital muscular dystrophy (ORPHA:588)
Association type: UNKNOWN
Gene: GMPPB
Disease: GMPPB-related limb-girdle muscular dystrophy R19; Autosomal recessive limb-girdle muscular dystrophy type 2T; GMPPB-related LGMD R19; LGMD type 2T; LGMD2T; Limb-girdle muscular dystrophy type 2T (ORPHA:363623)
Association type: UNKNOWN
Gene: SLC12A5
Disease: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 14 (OMIM:616685)
Association type: POLYGENIC
Gene: SLC12A5
Disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 34 (OMIM:616645)
Association type: MENDELIAN
Gene: SLC12A5
Disease: Epilepsy of infancy with migrating focal seizures; EIMFS; Epilepsy with migrating focal seizure in infancy; MMPEI; MMPSI; MPEI; MPSI; Malignant migrating partial epilepsy of infancy; Malignant migrating partial seizures of infancy; Migrating partial epilepsy of infancy; Migrating partial seizures of infancy (ORPHA:293181)
Association type: UNKNOWN
Gene: SURF1
Disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4K (OMIM:616684)
Association type: MENDELIAN
Gene: SURF1
Disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Association type: MENDELIAN
Gene: SURF1
Disease: SURF1-related Charcot-Marie-Tooth disease type 4; CMT4K; Charcot-Marie-Tooth disease type 4K; SURF1-related CMT4; SURF1-related severe demyelinating Charcot-Marie-Tooth disease (ORPHA:391351)
Association type: UNKNOWN
Gene: PSPH
Disease: PHOSPHOSERINE PHOSPHATASE DEFICIENCY (OMIM:614023)
Association type: MENDELIAN
Gene: PSPH
Disease: 3-phosphoserine phosphatase deficiency, infantile/juvenile form; PSPH deficiency, infantile/juvenile form (ORPHA:79350)
Association type: UNKNOWN
Gene: PSPH
Disease: Neu-Laxova syndrome due to 3-phosphoserine phosphatase deficiency; 3-phosphoserine phosphatase deficiency, prenatal form (ORPHA:583612)
Association type: UNKNOWN
Gene: VPS11
Disease: LEUKODYSTROPHY, HYPOMYELINATING, 12 (OMIM:616683)
Association type: MENDELIAN
Gene: VPS11
Disease: DYSTONIA 32 (OMIM:619637)
Association type: MENDELIAN
Gene: VPS11
Disease: VPS11-related autosomal recessive hypomyelinating leukodystrophy; VPS11-related autosomal recessive hypomyelinating leukoencephalopathy (ORPHA:466934)
Association type: UNKNOWN
Gene: TECR
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 14 (OMIM:614020)
Association type: MENDELIAN
Gene: TECR
Disease: Autosomal recessive non-syndromic intellectual disability; AR-NSID; NS-ARID (ORPHA:88616)
Association type: UNKNOWN
Gene: EXT2
Disease: SEIZURES, SCOLIOSIS, AND MACROCEPHALY/MICROCEPHALY SYNDROME (OMIM:616682)
Association type: MENDELIAN
Gene: EXT2
Disease: EXOSTOSES, MULTIPLE, TYPE II (OMIM:133701)
Association type: MENDELIAN
Gene: EXT2
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: EXT2
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: EXT2
Disease: Multiple osteochondromas; Bessel-Hagen disease; Multiple cartilaginous exostoses (ORPHA:321)
Association type: UNKNOWN
Gene: EXT2
Disease: Potocki-Shaffer syndrome; 11p11.2 deletion; Proximal 11p deletion syndrome (ORPHA:52022)
Association type: UNKNOWN
Gene: EXT2
Disease: Seizures-scoliosis-macrocephaly syndrome; SSM syndrome (ORPHA:466926)
Association type: UNKNOWN
Gene: KCNN4
Disease: DEHYDRATED HEREDITARY STOMATOCYTOSIS 2 (OMIM:616689)
Association type: MENDELIAN
Gene: KCNN4
Disease: Dehydrated hereditary stomatocytosis; Hereditary xerocytosis (ORPHA:3202)
Association type: UNKNOWN
Gene: KCNN4
Disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Association type: UNKNOWN
Gene: CRB1
Disease: PIGMENTED PARAVENOUS CHORIORETINAL ATROPHY (OMIM:172870)
Association type: MENDELIAN
Gene: CRB1
Disease: RETINITIS PIGMENTOSA 12 (OMIM:600105)
Association type: MENDELIAN
Gene: CRB1
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: CRB1
Disease: LEBER CONGENITAL AMAUROSIS 8 (OMIM:613835)
Association type: MENDELIAN
Gene: CRB1
Disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Association type: UNKNOWN
Gene: CRB1
Disease: Pigmented paravenous retinochoroidal atrophy; PPRCA (ORPHA:251295)
Association type: UNKNOWN
Gene: CRB1
Disease: Retinitis pigmentosa (ORPHA:791)
Association type: UNKNOWN
Gene: CRB1
Disease: Nanophthalmos; Nanophthalmia (ORPHA:35612)
Association type: UNKNOWN
Gene: VCP
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Y (OMIM:616687)
Association type: MENDELIAN
Gene: VCP
Disease: INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 1 (OMIM:167320)
Association type: MENDELIAN
Gene: VCP
Disease: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 6 (OMIM:613954)
Association type: MENDELIAN
Gene: VCP
Disease: Inclusion body myopathy with Paget disease of bone and frontotemporal dementia; IBMPFD; Limb-girdle muscular dystrophy with Paget disease of bone; Pagetoid amyotrophic lateral sclerosis; Pagetoid neuroskeletal syndrome (ORPHA:52430)
Association type: UNKNOWN
Gene: VCP
Disease: Autosomal dominant Charcot-Marie-Tooth disease type 2Y; Autosomal dominant Charcot-Marie-Tooth disease type 2 due to VCP mutation; CMT2 due to VCP mutation; CMT2Y (ORPHA:435387)
Association type: UNKNOWN
Gene: VCP
Disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Association type: UNKNOWN
Gene: VCP
Disease: Frontotemporal dementia with motor neuron disease; FTD-ALS; FTD-MND; Frontotemporal dementia with amyotrophic lateral sclerosis (ORPHA:275872)
Association type: UNKNOWN
Gene: VCP
Disease: Adult-onset distal myopathy due to VCP mutation (ORPHA:329478)
Association type: UNKNOWN
Gene: VCP
Disease: Spastic paraplegia-Paget disease of bone syndrome (ORPHA:329475)
Association type: UNKNOWN
Gene: VCP
Disease: Amyotrophic lateral sclerosis; ALS; Charcot disease; Lou Gehrig disease (ORPHA:803)
Association type: UNKNOWN
Gene: VCP
Disease: Progressive non-fluent aphasia; Agramatic variant of PPA; Agramatic variant of primary progressive aphasia; Non-fluent variant PPA (ORPHA:100070)
Association type: UNKNOWN
Gene: PROZ
Disease: PROTEIN Z DEFICIENCY (OMIM:614024)
Association type: MENDELIAN
Gene: PROZ
Disease: Cerebral sinovenous thrombosis; CSVT (ORPHA:329217)
Association type: UNKNOWN
Gene: TRAPPC11
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 18 (OMIM:615356)
Association type: MENDELIAN
Gene: TRAPPC11
Disease: Triple A syndrome; 2A syndrome; 3A syndrome; 4A syndrome; AAA syndrome; Achalasia-addisonianism-alacrima syndrome; Adrenal insufficiency-achalasia-alacrima syndrome; Allgrove syndrome; Double A syndrome; Quaternary A syndrome (ORPHA:869)
Association type: UNKNOWN
Gene: TRAPPC11
Disease: TRAPPC11-related limb-girdle muscular dystrophy R18; Autosomal recessive limb-girdle muscular dystrophy type 2S; LGMD type 2S; LGMD2S; Limb-girdle muscular dystrophy type 2S; TRAPPC11-related LGMD R18 (ORPHA:369840)
Association type: UNKNOWN
Gene: TRAPPC11
Disease: Intellectual disability-hyperkinetic movement-truncal ataxia syndrome (ORPHA:369847)
Association type: UNKNOWN
Gene: ABCA1
Disease: TANGIER DISEASE (OMIM:205400)
Association type: MENDELIAN
Gene: ABCA1
Disease: HYPOALPHALIPOPROTEINEMIA, PRIMARY, 1 (OMIM:604091)
Association type: MENDELIAN
Gene: ABCA1
Disease: Tangier disease; ATP-binding cassette transporter A1 deficiency; Analphalipoproteinemia (ORPHA:31150)
Association type: UNKNOWN
Gene: ABCA1
Disease: Apolipoprotein A-I deficiency; ApoA-I deficiency; Familial apoA-I deficiency; Familial hypoalphalipoproteinemia (ORPHA:425)
Association type: UNKNOWN
Gene: APOC3
Disease: APOLIPOPROTEIN C-III DEFICIENCY (OMIM:614028)
Association type: MENDELIAN
Gene: APOC3
Disease: Familial Hyperalphalipoproteinemia (ORPHA:181428)
Association type: UNKNOWN
Gene: KRT85
Disease: ECTODERMAL DYSPLASIA 4, HAIR/NAIL TYPE (OMIM:602032)
Association type: MENDELIAN
Gene: KRT85
Disease: Pure hair and nail ectodermal dysplasia; HNED; Hair-nail ectodermal dysplasia; PHNED (ORPHA:69084)
Association type: UNKNOWN
Gene: MC3R
Disease: BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 9 (OMIM:602025)
Association type: POLYGENIC
Gene: PAX8
Disease: HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 2 (OMIM:218700)
Association type: MENDELIAN
Gene: PAX8
Disease: Differentiated thyroid carcinoma; Papillary or follicular thyroid carcinoma; Well-differentiated thyroid carcinoma (ORPHA:146)
Association type: UNKNOWN
Gene: PAX8
Disease: Thyroid hypoplasia (ORPHA:95720)
Association type: UNKNOWN
Gene: PAX8
Disease: Athyreosis (ORPHA:95713)
Association type: UNKNOWN
Gene: PAX8
Disease: Thyroid ectopia (ORPHA:95712)
Association type: UNKNOWN
Gene: BCS1L
Disease: GRACILE SYNDROME (OMIM:603358)
Association type: MENDELIAN
Gene: BCS1L
Disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1 (OMIM:124000)
Association type: MENDELIAN
Gene: BCS1L
Disease: BJORNSTAD SYNDROME (OMIM:262000)
Association type: MENDELIAN
Gene: BCS1L
Disease: GRACILE syndrome; Fellman disease; Growth restriction-aminoaciduria-cholestasis-iron overload-lactic acidosis-early death syndrome (ORPHA:53693)
Association type: UNKNOWN
Gene: BCS1L
Disease: Isolated complex III deficiency; Isolated CoQ-cytochrome C reductase deficiency; Isolated coenzyme Q-cytochrome C reductase deficiency; Isolated mitochondrial respiratory chain complex III deficiency; Isolated ubiquinone-cytochrome C reductase deficiency (ORPHA:1460)
Association type: UNKNOWN
Gene: BCS1L
Disease: Björnstad syndrome; Deafness-pili torti-hypogonadism syndrome; Hearing loss-pili torti-hypogonadism syndrome (ORPHA:123)
Association type: UNKNOWN
Gene: BCS1L
Disease: Renal tubulopathy-encephalopathy-liver failure syndrome (ORPHA:254902)
Association type: UNKNOWN
Gene: GNA11
Disease: HYPOCALCEMIA, AUTOSOMAL DOMINANT 2 (OMIM:615361)
Association type: MENDELIAN
Gene: GNA11
Disease: HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE II (OMIM:145981)
Association type: MENDELIAN
Gene: GNA11
Disease: Familial hypocalciuric hypercalcemia type 2; FHH type 2 (ORPHA:101049)
Association type: UNKNOWN
Gene: GNA11
Disease: Phakomatosis cesioflammea; Phakomatosis pigmentovascularis type 2 (ORPHA:79483)
Association type: UNKNOWN
Gene: GNA11
Disease: Phakomatosis cesiomarmorata; Phakomatosis pigmentovascularis type 5 (ORPHA:79484)
Association type: UNKNOWN
Gene: GNA11
Disease: Cutis marmorata telangiectatica congenita; CMTC (ORPHA:1556)
Association type: UNKNOWN
Gene: GNA11
Disease: Uveal melanoma; Choroid melanoma; Choroidal and ciliary body melanomas; Melanoma of choroid; Melanoma of uvea (ORPHA:39044)
Association type: UNKNOWN
Gene: GNA11
Disease: Autosomal dominant hypocalcemia; AD hypocalcemia (ORPHA:428)
Association type: UNKNOWN
Gene: GNA11
Disease: Anastomosing haemangioma (ORPHA:675359)
Association type: UNKNOWN
Gene: HAGH
Disease: HYDROXYACYL GLUTATHIONE HYDROLASE DEFICIENCY (OMIM:614033)
Association type: MENDELIAN
Gene: CTSF
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 13 (OMIM:615362)
Association type: MENDELIAN
Gene: CTSF
Disease: CLN13 disease; Kufs type B disease; Neuronal ceroid lipofuscinosis type 13 (ORPHA:352709)
Association type: UNKNOWN
Gene: DNM2
Disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 5 (OMIM:615368)
Association type: MENDELIAN
Gene: DNM2
Disease: MYOPATHY, CENTRONUCLEAR, 1 (OMIM:160150)
Association type: MENDELIAN
Gene: DNM2
Disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (OMIM:606482)
Association type: MENDELIAN
Gene: DNM2
Disease: Autosomal dominant Charcot-Marie-Tooth disease type 2M; CMT2M (ORPHA:228179)
Association type: UNKNOWN
Gene: DNM2
Disease: Autosomal dominant centronuclear myopathy; AD-CNM (ORPHA:169189)
Association type: UNKNOWN
Gene: DNM2
Disease: Fetal akinesia-cerebral and retinal hemorrhage syndrome; LCCS5; Lethal congenital contracture syndrome type 5 (ORPHA:363409)
Association type: UNKNOWN
Gene: DNM2
Disease: Autosomal dominant intermediate Charcot-Marie-Tooth disease type B; CMTDIB (ORPHA:100044)
Association type: UNKNOWN
Gene: LTC4S
Disease: LEUKOTRIENE C4 SYNTHASE DEFICIENCY (OMIM:614037)
Association type: MENDELIAN
Gene: CHD2
Disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 94 (OMIM:615369)
Association type: MENDELIAN
Gene: CHD2
Disease: Lennox-Gastaut syndrome (ORPHA:2382)
Association type: UNKNOWN
Gene: CHD2
Disease: Myoclonic-astatic epilepsy; Doose syndrome; EMAS; Epilepsy with myoclonic-astatic seizures; Epilepsy with myoclonic-atonic seizures; MAE; Myoclonic atonic epilepsy; Myoclonic-astatic epilepsy in early childhood (ORPHA:1942)
Association type: UNKNOWN
Gene: CLDN14
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 29 (OMIM:614035)
Association type: MENDELIAN
Gene: CLDN14
Disease: Rare autosomal recessive non-syndromic sensorineural deafness type DFNB; Autosomal recessive isolated neurosensory deafness type DFNB; Autosomal recessive isolated neurosensory hearing loss type DFNB; Autosomal recessive isolated sensorineural deafness type DFNB; Autosomal recessive isolated sensorineural hearing loss type DFNB; Autosomal recessive non-syndromic neurosensory deafness type DFNB; Autosomal recessive non-syndromic neurosensory hearing loss type DFNB; Autosomal recessive non-syndromic sensorineural hearing loss type DFNB (ORPHA:90636)
Association type: UNKNOWN
Gene: TUBB3
Disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1 (OMIM:614039)
Association type: MENDELIAN
Gene: TUBB3
Disease: FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT (OMIM:600638)
Association type: MENDELIAN
Gene: TUBB3
Disease: Congenital fibrosis of extraocular muscles; FEOM (ORPHA:45358)
Association type: UNKNOWN
Gene: TUBB3
Disease: Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation (ORPHA:300570)
Association type: UNKNOWN