TaoMedAI/RareMedData huggingface dataset:
Gene: MAPKBP1
Disease: Juvenile nephronophthisis (ORPHA:93592)
Association type: UNKNOWN
Gene: MAPKBP1
Disease: Late-onset nephronophthisis (ORPHA:93589)
Association type: UNKNOWN
Gene: ELP2
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 58 (OMIM:617270)
Association type: MENDELIAN
Gene: GREM2
Disease: TOOTH AGENESIS, SELECTIVE, 9 (OMIM:617275)
Association type: MENDELIAN
Gene: GREM2
Disease: Oligodontia; Selective tooth agenesis (ORPHA:99798)
Association type: UNKNOWN
Gene: AP3B2
Disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 48 (OMIM:617276)
Association type: MENDELIAN
Gene: AP3B2
Disease: Non-specific early-onset epileptic encephalopathy; Non-specific EOEE; Undetermined EOEE; Undetermined early-onset epileptic encephalopathy (ORPHA:442835)
Association type: UNKNOWN
Gene: AVP
Disease: DIABETES INSIPIDUS, NEUROHYPOPHYSEAL (OMIM:125700)
Association type: MENDELIAN
Gene: AVP
Disease: Hereditary arginine vasopressin deficiency; Hereditary CDI; Hereditary neurogenic diabetes insipidus (ORPHA:30925)
Association type: UNKNOWN
Gene: TNNI2
Disease: ARTHROGRYPOSIS, DISTAL, TYPE 2B1 (OMIM:601680)
Association type: MENDELIAN
Gene: TNNI2
Disease: Sheldon-Hall syndrome; DA2B; Distal arthrogryposis multiplex congenita type 2B; Distal arthrogryposis type 2B; Freeman-Sheldon syndrome variant; SSH (ORPHA:1147)
Association type: UNKNOWN
Gene: TNNI2
Disease: Distal arthrogryposis type 1; DA1; Digitotalar dysmorphism (ORPHA:1146)
Association type: UNKNOWN
Gene: FOXO1
Disease: RHABDOMYOSARCOMA 2 (OMIM:268220)
Association type: MENDELIAN
Gene: FOXO1
Disease: Alveolar rhabdomyosarcoma (ORPHA:99756)
Association type: UNKNOWN
Gene: DENND5A
Disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 49 (OMIM:617281)
Association type: MENDELIAN
Gene: SLC12A1
Disease: BARTTER SYNDROME, TYPE 1, ANTENATAL (OMIM:601678)
Association type: MENDELIAN
Gene: EML1
Disease: BAND HETEROTOPIA (OMIM:600348)
Association type: MENDELIAN
Gene: EML1
Disease: Subcortical band heterotopia; Subcortical laminar heterotopia (ORPHA:99796)
Association type: UNKNOWN
Gene: SLC39A4
Disease: ACRODERMATITIS ENTEROPATHICA, ZINC-DEFICIENCY TYPE (OMIM:201100)
Association type: MENDELIAN
Gene: SLC39A4
Disease: Acrodermatitis enteropathica; AEZ; Acrodermatitis enteropathica, zinc deficiency type; Inherited zinc deficiency (ORPHA:37)
Association type: UNKNOWN
Gene: ACAT1
Disease: ALPHA-METHYLACETOACETIC ACIDURIA (OMIM:203750)
Association type: MENDELIAN
Gene: ACAT1
Disease: Beta-ketothiolase deficiency; 3-ketothiolase deficiency; 3-oxothiolase deficiency; Alpha methylacetoacetic aciduria; Alpha-methyl-acetoacetyl-CoA thiolase deficiency; Mitochondrial acetoacetyl-coenzyme A thiolase deficiency; T2 deficiency (ORPHA:134)
Association type: UNKNOWN
Gene: DAGLA
Disease: NEUROOCULAR SYNDROME 2, PAROXYSMAL TYPE (OMIM:168885)
Association type: MENDELIAN
Gene: PLPBP
Disease: EPILEPSY, EARLY-ONSET, VITAMIN B6-DEPENDENT (OMIM:617290)
Association type: MENDELIAN
Gene: PLPBP
Disease: Pyridoxine-dependent epilepsy; Antiquitin deficiency; Vitamin B6-dependent seizures (ORPHA:3006)
Association type: UNKNOWN
Gene: ADRB3
Disease: OBESITY (OMIM:601665)
Association type: POLYGENIC
Gene: UCP3
Disease: OBESITY (OMIM:601665)
Association type: POLYGENIC
Gene: NR0B2
Disease: OBESITY (OMIM:601665)
Association type: MENDELIAN
Gene: CARTPT
Disease: OBESITY (OMIM:601665)
Association type: POLYGENIC
Gene: GHRL
Disease: OBESITY (OMIM:601665)
Association type: POLYGENIC
Gene: SDC3
Disease: OBESITY (OMIM:601665)
Association type: POLYGENIC
Gene: AGRP
Disease: OBESITY (OMIM:601665)
Association type: POLYGENIC
Gene: ACP4
Disease: AMELOGENESIS IMPERFECTA, TYPE IJ (OMIM:617297)
Association type: MENDELIAN
Gene: ACP4
Disease: Hypoplastic amelogenesis imperfecta; Amelogenesis imperfecta type 1 (ORPHA:100031)
Association type: UNKNOWN
Gene: SUMO4
Disease: TYPE 1 DIABETES MELLITUS 5 (OMIM:600320)
Association type: POLYGENIC
Gene: SDHAF2
Disease: PARAGANGLIOMAS 2 (OMIM:601650)
Association type: MENDELIAN
Gene: SDHAF2
Disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Association type: UNKNOWN
Gene: TMC6
Disease: EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 1 (OMIM:226400)
Association type: POLYGENIC
Gene: TMC6
Disease: Inherited epidermodysplasia verruciformis; Lewandowsky-Lutz syndrome; Lutz-Lewandowsky epidermodysplasia verruciformis (ORPHA:302)
Association type: UNKNOWN
Gene: SUMO1
Disease: OROFACIAL CLEFT 10 (OMIM:613705)
Association type: MENDELIAN
Gene: SUMO1
Disease: Oligodontia; Selective tooth agenesis (ORPHA:99798)
Association type: UNKNOWN
Gene: SACS
Disease: SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE (OMIM:270550)
Association type: MENDELIAN
Gene: SACS
Disease: Autosomal recessive spastic ataxia of Charlevoix-Saguenay; ARSACS; Autosomal recessive spastic ataxia type 6; SPAX6 (ORPHA:98)
Association type: UNKNOWN
Gene: MYO15A
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 3 (OMIM:600316)
Association type: MENDELIAN
Gene: MYO15A
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: GDNF
Disease: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 3 (OMIM:613711)
Association type: POLYGENIC
Gene: GDNF
Disease: Hirschsprung disease; Aganglionic megacolon; Colonic aganglionosis; Congenital intestinal aganglionosis; HSCR (ORPHA:388)
Association type: UNKNOWN
Gene: GDNF
Disease: Congenital central hypoventilation syndrome; CCHS; Congenital central alveolar hypoventilation syndrome; Ondine curse; Ondine syndrome (ORPHA:661)
Association type: UNKNOWN
Gene: MSRB3
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 74 (OMIM:613718)
Association type: MENDELIAN
Gene: MSRB3
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: MYO5A
Disease: GRISCELLI SYNDROME, TYPE 1 (OMIM:214450)
Association type: MENDELIAN
Gene: MYO5A
Disease: Griscelli syndrome type 1; Griscelli-Pruniéras syndrome type 1; Hypopigmentation-neurologic impairment syndrome (ORPHA:79476)
Association type: UNKNOWN
Gene: MYO5A
Disease: Griscelli syndrome type 3; Griscelli-Pruniéras syndrome type 3 (ORPHA:79478)
Association type: UNKNOWN
Gene: MYO5A
Disease: Neuroectodermal melanolysosomal disease; Elejalde neuroectodermal melanolysosomal disease (ORPHA:33445)
Association type: UNKNOWN
Gene: PLCB1
Disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 12 (OMIM:613722)
Association type: MENDELIAN
Gene: PLCB1
Disease:  (ORPHA:697160)
Association type: UNKNOWN
Gene: PLCB1
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: SCP2
Disease: LEUKOENCEPHALOPATHY WITH DYSTONIA AND MOTOR NEUROPATHY (OMIM:613724)
Association type: MENDELIAN
Gene: SCP2
Disease: Leukoencephalopathy-dystonia-motor neuropathy syndrome (ORPHA:163684)
Association type: UNKNOWN
Gene: ANO10
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 10 (OMIM:613728)
Association type: MENDELIAN
Gene: ANO10
Disease: Adult-onset autosomal recessive cerebellar ataxia; Autosomal recessive spinocerebellar ataxia type 10; SCAR10 (ORPHA:284289)
Association type: UNKNOWN
Gene: OTC
Disease: ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO (OMIM:311250)
Association type: MENDELIAN
Gene: OTC
Disease: Ornithine transcarbamylase deficiency; OCT deficiency; OTC deficiency; Ornithine carbamoyltransferase deficiency (ORPHA:664)
Association type: UNKNOWN
Gene: OTOGL
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 84B (OMIM:614944)
Association type: MENDELIAN
Gene: OTOGL
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: COG5
Disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIi (OMIM:613612)
Association type: MENDELIAN
Gene: COG5
Disease: COG5-CDG; CDG syndrome type IIi; CDG-IIi; CDG2I; Carbohydrate deficient glycoprotein syndrome type IIi; Congenital disorder of glycosylation type 2i; Congenital disorder of glycosylation type IIi (ORPHA:263487)
Association type: UNKNOWN
Gene: OTOG
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 18B (OMIM:614945)
Association type: MENDELIAN
Gene: OTOG
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: HOGA1
Disease: HYPEROXALURIA, PRIMARY, TYPE III (OMIM:613616)
Association type: MENDELIAN
Gene: HOGA1
Disease: Primary hyperoxaluria type 3 (ORPHA:93600)
Association type: UNKNOWN
Gene: MCFD2
Disease: FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 2 (OMIM:613625)
Association type: MENDELIAN
Gene: MCFD2
Disease: Combined deficiency of factor V and factor VIII; F5F8D; FV and FVIII combined deficiency (ORPHA:35909)
Association type: UNKNOWN
Gene: CHMP1A
Disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 8 (OMIM:614961)
Association type: MENDELIAN
Gene: CHMP1A
Disease: Pontocerebellar hypoplasia type 8; PCH8; Pontocerebellar hypoplasia due to CHMP1A mutation (ORPHA:324569)
Association type: UNKNOWN
Gene: LEP
Disease: LEPTIN DEFICIENCY OR DYSFUNCTION (OMIM:614962)
Association type: MENDELIAN
Gene: LEP
Disease: Obesity due to congenital leptin deficiency (ORPHA:66628)
Association type: UNKNOWN
Gene: CD59
Disease: HEMOLYTIC ANEMIA, CD59-MEDIATED, WITH OR WITHOUT IMMUNE-MEDIATED POLYNEUROPATHY (OMIM:612300)
Association type: MENDELIAN
Gene: CD59
Disease: Primary CD59 deficiency (ORPHA:169464)
Association type: UNKNOWN
Gene: G6PC1
Disease: GLYCOGEN STORAGE DISEASE Ia (OMIM:232200)
Association type: MENDELIAN
Gene: G6PC1
Disease: Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia; G6P deficiency type 1a; GSD due to G6P deficiency type 1a; GSD due to G6P deficiency type Ia; GSD type 1a; GSDIa; Glycogen storage disease due to G6P deficiency type Ia; Glycogen storage disease type 1a; Glycogenosis due to glucose-6-phosphatase deficiency type 1a; Glycogenosis due to glucose-6-phosphatase deficiency type Ia; Glycogenosis type Ia (ORPHA:79258)
Association type: UNKNOWN
Gene: LEPR
Disease: LEPTIN RECEPTOR DEFICIENCY (OMIM:614963)
Association type: MENDELIAN
Gene: LEPR
Disease: Obesity due to leptin receptor gene deficiency (ORPHA:179494)
Association type: UNKNOWN
Gene: TOE1
Disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 7 (OMIM:614969)
Association type: MENDELIAN
Gene: TOE1
Disease: Pontocerebellar hypoplasia type 7; PCH7; Pontocerebellar hypoplasia-46,XY disorder of sex development syndrome (ORPHA:284339)
Association type: UNKNOWN
Gene: SPTLC2
Disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC (OMIM:613640)
Association type: MENDELIAN
Gene: SPTLC2
Disease: Hereditary sensory and autonomic neuropathy type 1; HSAN1; Hereditary sensory and autonomic neuropathy type I (ORPHA:36386)
Association type: UNKNOWN
Gene: FIGLA
Disease: PREMATURE OVARIAN FAILURE 6 (OMIM:612310)
Association type: MENDELIAN
Gene: FIGLA
Disease: 46,XX gonadal dysgenesis; 46,XX complete gonadal dysgenesis; 46,XX ovarian dysgenesis; 46,XX pure gonadal dysgenesis; Hypergonadotropic ovarian dysgenesis; XX female gonadal dysgenesis; XX-GD (ORPHA:243)
Association type: UNKNOWN
Gene: CYP26C1
Disease: FOCAL FACIAL DERMAL DYSPLASIA 4 (OMIM:614974)
Association type: MENDELIAN
Gene: CYP26C1
Disease: Focal facial dermal dysplasia type IV; FFDD type IV; FFDD4; Focal facial dermal dysplasia 4; Focal facial preauricular dysplasia (ORPHA:398189)
Association type: UNKNOWN
Gene: CD320
Disease: METHYLMALONIC ACIDURIA, TRANSIENT, DUE TO TRANSCOBALAMIN RECEPTOR DEFECT (OMIM:613646)
Association type: MENDELIAN
Gene: CD320
Disease: Methylmalonic aciduria due to transcobalamin receptor defect; Methylmalonic acidemia, TCb1R type; Methylmalonic acidemia, TCbIR type (ORPHA:280183)
Association type: UNKNOWN
Gene: AP5Z1
Disease: SPASTIC PARAPLEGIA 48, AUTOSOMAL RECESSIVE (OMIM:613647)
Association type: MENDELIAN
Gene: AP5Z1
Disease: Autosomal recessive spastic paraplegia type 48; SPG48 (ORPHA:306511)
Association type: UNKNOWN
Gene: FA2H
Disease: SPASTIC PARAPLEGIA 35, AUTOSOMAL RECESSIVE (OMIM:612319)
Association type: MENDELIAN
Gene: FA2H
Disease: Autosomal recessive spastic paraplegia type 35; SPG35 (ORPHA:171629)
Association type: UNKNOWN
Gene: FA2H
Disease: Fatty acid hydroxylase-associated neurodegeneration; FAHN (ORPHA:329308)
Association type: UNKNOWN
Gene: KRT75
Disease: PSEUDOFOLLICULITIS BARBAE (OMIM:612318)
Association type: POLYGENIC
Gene: OCRL
Disease: DENT DISEASE 2 (OMIM:300555)
Association type: MENDELIAN
Gene: OCRL
Disease: LOWE OCULOCEREBRORENAL SYNDROME (OMIM:309000)
Association type: MENDELIAN
Gene: OCRL
Disease: Oculocerebrorenal syndrome of Lowe; Lowe disease; Lowe oculo-cerebro-renal dystrophy; Lowe oculo-cerebro-renal syndrome; Lowe oculocerebrorenal dystrophy; Lowe syndrome; OCRL; Phosphatidylinositol 4,5-biphosphate 5-phosphatase deficiency (ORPHA:534)
Association type: UNKNOWN
Gene: OCRL
Disease: Dent disease type 2 (ORPHA:93623)
Association type: UNKNOWN
Gene: GRIN2A
Disease: EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION (OMIM:245570)
Association type: MENDELIAN
Gene: GRIN2A
Disease: Landau-Kleffner syndrome; Acquired epileptic aphasia; LKS (ORPHA:98818)
Association type: UNKNOWN
Gene: GRIN2A
Disease: Rolandic epilepsy-speech dyspraxia syndrome (ORPHA:163721)
Association type: UNKNOWN
Gene: GRIN2A
Disease: Self-limited epilepsy with centrotemporal spikes; BECRS; BECTS; BRE; Benign epilepsy of childhood with centrotemporal spikes; Benign familial epilepsy of childhood with rolandic spikes; Benign rolandic epilepsy; Centrotemporal epilepsy; Rolandic epilepsy; SeLECTS (ORPHA:1945)
Association type: UNKNOWN
Gene: GRIN2A
Disease: Developmental and epileptic encephalopathy with spike-wave activation in sleep; CSWS; CSWSS syndrome; Continuous spikes and waves during sleep; Continuous spikes and waves during slow-wave sleep; DEE-SWAS; Epileptic encephalopathy with continuous spike-and-wave during slow sleep; Epileptic encephalopathy with spike-and wave activation in sleep (ORPHA:725)
Association type: UNKNOWN
Gene: GRIN2A
Disease: Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation (ORPHA:289266)
Association type: UNKNOWN
Gene: PHKA1
Disease: GLYCOGEN STORAGE DISEASE, TYPE IXd (OMIM:300559)
Association type: MENDELIAN
Gene: PHKA1
Disease: Glycogen storage disease due to muscle phosphorylase kinase deficiency; GSD due to muscle phosphorylase kinase deficiency; GSD type 9D; GSD type 9E; GSD type IXd; GSD type IXe; Glycogen storage disease type 9D; Glycogen storage disease type 9E; Glycogen storage disease type IXd; Glycogen storage disease type IXe; Glycogenosis due to muscle phosphorylase kinase deficiency; Glycogenosis type 9D; Glycogenosis type 9E; Glycogenosis type IXd; Glycogenosis type IXe (ORPHA:715)
Association type: UNKNOWN
Gene: PAK3
Disease: MENTAL RETARDATION, X-LINKED 30 (OMIM:300558)
Association type: MENDELIAN
Gene: PAK3
Disease: Non-specific syndromic intellectual disability; Complex neurodevelopmental disorder (ORPHA:528084)
Association type: UNKNOWN
Gene: C1QA
Disease: C1q DEFICIENCY (OMIM:613652)
Association type: MENDELIAN
Gene: C1QA
Disease: Autosomal systemic lupus erythematosus; Autosomal SLE; Familial SLE; Familial systemic lupus erythematosus (ORPHA:300345)
Association type: UNKNOWN
Gene: C1QA
Disease: Immunodeficiency due to a classical component pathway complement deficiency; Immunodeficiency due to C1, C4, or C2 component complement deficiency; Immunodeficiency due to an early component of complement deficiency (ORPHA:169147)
Association type: UNKNOWN
Gene: KCNK18
Disease: MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 13 (OMIM:613656)
Association type: POLYGENIC
Gene: IL1B
Disease: GASTRIC CANCER (OMIM:613659)
Association type: POLYGENIC
Gene: FARSB
Disease: RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 1 (OMIM:613658)
Association type: MENDELIAN
Gene: FARSB
Disease: Brain calcification, Rajab type (ORPHA:178506)
Association type: UNKNOWN
Gene: LPIN1
Disease: MYOGLOBINURIA, ACUTE RECURRENT, AUTOSOMAL RECESSIVE (OMIM:268200)
Association type: MENDELIAN
Gene: LPIN1
Disease: Genetic recurrent myoglobinuria (ORPHA:99845)
Association type: UNKNOWN
Gene: MTMR14
Disease: MYOPATHY, CENTRONUCLEAR, 1 (OMIM:160150)
Association type: POLYGENIC
Gene: MTMR14
Disease: Autosomal dominant centronuclear myopathy; AD-CNM (ORPHA:169189)
Association type: UNKNOWN
Gene: ALG11
Disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ip (OMIM:613661)
Association type: MENDELIAN
Gene: ALG11
Disease: ALG11-CDG; CDG syndrome type Ip; CDG-Ip; CDG1P; Carbohydrate deficient glycoprotein syndrome type Ip; Congenital disorder of glycosylation type 1p; Congenital disorder of glycosylation type Ip (ORPHA:280071)
Association type: UNKNOWN
Gene: MED17
Disease: MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY (OMIM:613668)
Association type: MENDELIAN
Gene: MED17
Disease: Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly (ORPHA:402364)
Association type: UNKNOWN
Gene: ZBTB18
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 22 (OMIM:612337)
Association type: MENDELIAN
Gene: ZBTB18
Disease: Distal deletion 1q syndrome; Distal monosomy 1q; Monosomy 1qter; Telomeric deletion 1q (ORPHA:36367)
Association type: UNKNOWN
Gene: KDM5C
Disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE (OMIM:300534)
Association type: MENDELIAN
Gene: KDM5C
Disease: KDM5C-related syndromic X-linked intellectual disability (ORPHA:85279)
Association type: UNKNOWN
Gene: SOBP
Disease: MENTAL RETARDATION, ANTERIOR MAXILLARY PROTRUSION, AND STRABISMUS (OMIM:613671)
Association type: MENDELIAN
Gene: SOBP
Disease: Anterior maxillary protrusion-strabismus-intellectual disability syndrome; MRAMS syndrome (ORPHA:562559)
Association type: UNKNOWN
Gene: FOXP1
Disease: MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND WITH OR WITHOUT AUTISTIC FEATURES (OMIM:613670)
Association type: MENDELIAN
Gene: FOXP1
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: FOXP1
Disease: FOXP1 Syndrome; FOXP1-retaled intellectual disability-severe speech delay-mild dysmorphism syndrome (ORPHA:391372)
Association type: UNKNOWN
Gene: FOXP1
Disease: B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality (ORPHA:585877)
Association type: UNKNOWN
Gene: MTPAP
Disease: SPASTIC ATAXIA 4, AUTOSOMAL RECESSIVE (OMIM:613672)
Association type: MENDELIAN
Gene: MTPAP
Disease: Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome; Autosomal recessive spastic ataxia type 4; SPAX4 (ORPHA:254343)
Association type: UNKNOWN
Gene: HSPD1
Disease: SPASTIC PARAPLEGIA 13, AUTOSOMAL DOMINANT (OMIM:605280)
Association type: MENDELIAN
Gene: HSPD1
Disease: LEUKODYSTROPHY, HYPOMYELINATING, 4 (OMIM:612233)
Association type: MENDELIAN
Gene: HSPD1
Disease: Pelizaeus-Merzbacher-like disease due to HSPD1 mutation; Mitochondrial HSP60 chaperonopathy (ORPHA:280288)
Association type: UNKNOWN
Gene: HSPD1
Disease: Autosomal dominant spastic paraplegia type 13; SPG13 (ORPHA:100994)
Association type: UNKNOWN
Gene: ASS1
Disease: CITRULLINEMIA, CLASSIC (OMIM:215700)
Association type: MENDELIAN
Gene: ASS1
Disease: Late-onset citrullinemia type I; Late-onset citrullinemia type 1 (ORPHA:247573)
Association type: UNKNOWN
Gene: ASS1
Disease: Acute neonatal citrullinemia type I; Acute neonatal citrullinemia type 1; Early-onset citrullinemia type 1; Early-onset citrullinemia type I (ORPHA:247546)
Association type: UNKNOWN
Gene: THOC6
Disease: BEAULIEU-BOYCOTT-INNES SYNDROME (OMIM:613680)
Association type: MENDELIAN
Gene: THOC6
Disease: THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome; BBIS; Beaulieu-Boycott-Innes syndrome (ORPHA:363444)
Association type: UNKNOWN
Gene: RDX
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 24 (OMIM:611022)
Association type: MENDELIAN
Gene: RDX
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: SERPIND1
Disease: HEPARIN COFACTOR II DEFICIENCY (OMIM:612356)
Association type: MENDELIAN
Gene: KCNA1
Disease: EPISODIC ATAXIA, TYPE 1 (OMIM:160120)
Association type: MENDELIAN
Gene: KCNA1
Disease: Isolated autosomal dominant hypomagnesemia, Glaudemans type (ORPHA:199326)
Association type: UNKNOWN
Gene: KCNA1
Disease: Episodic ataxia type 1; Episodic ataxia with myokymia (ORPHA:37612)
Association type: UNKNOWN
Gene: KCNA1
Disease: Hereditary continuous muscle fiber activity (ORPHA:972)
Association type: UNKNOWN
Gene: KCNA1
Disease: Paroxysmal kinesigenic dyskinesia; Familial PKD; Familial paroxysmal kinesigenic dyskinesia; Paroxysmal kinesigenic choreathetosis (ORPHA:98809)
Association type: UNKNOWN
Gene: KCNA1
Disease: Early infantile epileptic encephalopathy; EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Ohtahara syndrome (ORPHA:1934)
Association type: UNKNOWN
Gene: RAX
Disease: MICROPHTHALMIA, ISOLATED 3 (OMIM:611038)
Association type: MENDELIAN
Gene: RAX
Disease: Colobomatous microphthalmia; MAC; Microphthalmia with colobomatous cyst; Microphthalmia-anophthalmia-coloboma syndrome (ORPHA:98938)
Association type: UNKNOWN
Gene: RAX
Disease: Nanophthalmos; Nanophthalmia (ORPHA:35612)
Association type: UNKNOWN
Gene: TCN2
Disease: TRANSCOBALAMIN II DEFICIENCY (OMIM:275350)
Association type: MENDELIAN
Gene: TCN2
Disease: Transcobalamin deficiency; Inherited deficiency of transcobalamin; Transcobalamin II deficiency (ORPHA:859)
Association type: UNKNOWN
Gene: TNFRSF10B
Disease: SQUAMOUS CELL CARCINOMA, HEAD AND NECK (OMIM:275355)
Association type: MENDELIAN
Gene: TNFRSF10B
Disease: Squamous cell carcinoma of the hypopharynx (ORPHA:494547)
Association type: UNKNOWN
Gene: TNFRSF10B
Disease: Squamous cell carcinoma of the larynx (ORPHA:494550)
Association type: UNKNOWN