TaoMedAI/RareMedData huggingface dataset:
Gene: OCA2
Disease: Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15; UPD(15)mat (ORPHA:98754)
Association type: UNKNOWN
Gene: CTSC
Disease: PERIODONTITIS, AGGRESSIVE, 1 (OMIM:170650)
Association type: MENDELIAN
Gene: CTSC
Disease: HAIM-MUNK SYNDROME (OMIM:245010)
Association type: MENDELIAN
Gene: CTSC
Disease: PAPILLON-LEFEVRE SYNDROME (OMIM:245000)
Association type: MENDELIAN
Gene: CTSC
Disease: Haim-Munk syndrome; Keratosis palmoplantaris-periodontopathia-onychogryposis syndrome; Palmoplantar hyperkeratosis-periodontopathia-onychogryposis syndrome; Palmoplantar keratoderma-periodontopathia-onychogryposis syndrome (ORPHA:2342)
Association type: UNKNOWN
Gene: CTSC
Disease: Papillon-Lefèvre syndrome; Keratosis palmoplantar-periodontopathy syndrome; PLS (ORPHA:678)
Association type: UNKNOWN
Gene: OPCML
Disease: OVARIAN CANCER (OMIM:167000)
Association type: MENDELIAN
Gene: ETHE1
Disease: ENCEPHALOPATHY, ETHYLMALONIC (OMIM:602473)
Association type: MENDELIAN
Gene: ETHE1
Disease: Ethylmalonic encephalopathy (ORPHA:51188)
Association type: UNKNOWN
Gene: GSC
Disease: SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, AND SKELETAL ABNORMALITIES (OMIM:602471)
Association type: MENDELIAN
Gene: GSC
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: GSC
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: GSC
Disease: Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome; SAMS syndrome (ORPHA:397623)
Association type: UNKNOWN
Gene: EPG5
Disease: VICI SYNDROME (OMIM:242840)
Association type: MENDELIAN
Gene: EPG5
Disease: Vici syndrome; Corpus callosum agenesis-cataract-immunodeficiency syndrome; Dionisi-Vici-Sabetta-Gambarara syndrome (ORPHA:1493)
Association type: UNKNOWN
Gene: POU4F3
Disease: DEAFNESS, AUTOSOMAL DOMINANT 15 (OMIM:602459)
Association type: MENDELIAN
Gene: POU4F3
Disease: Rare autosomal dominant non-syndromic sensorineural deafness type DFNA; Autosomal dominant isolated neurosensory deafness type DFNA; Autosomal dominant isolated neurosensory hearing loss type DFNA; Autosomal dominant isolated sensorineural deafness type DFNA; Autosomal dominant isolated sensorineural hearing loss type DFNA; Autosomal dominant non-syndromic neurosensory deafness type DFNA; Autosomal dominant non-syndromic neurosensory hearing loss type DFNA; Autosomal dominant non-syndromic sensorineural hearing loss type DFNA (ORPHA:90635)
Association type: UNKNOWN
Gene: SLC45A2
Disease: SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 5 (OMIM:227240)
Association type: MENDELIAN
Gene: SLC45A2
Disease: ALBINISM, OCULOCUTANEOUS, TYPE IV (OMIM:606574)
Association type: MENDELIAN
Gene: SLC45A2
Disease: Oculocutaneous albinism type 4; OCA4 (ORPHA:79435)
Association type: UNKNOWN
Gene: SPAST
Disease: SPASTIC PARAPLEGIA 4, AUTOSOMAL DOMINANT (OMIM:182601)
Association type: MENDELIAN
Gene: SPAST
Disease: Autosomal dominant spastic paraplegia type 4; SPG4 (ORPHA:100985)
Association type: UNKNOWN
Gene: ATL1
Disease: SPASTIC PARAPLEGIA 3, AUTOSOMAL DOMINANT (OMIM:182600)
Association type: MENDELIAN
Gene: ATL1
Disease: NEUROPATHY, HEREDITARY SENSORY, TYPE ID (OMIM:613708)
Association type: MENDELIAN
Gene: ATL1
Disease: Hereditary sensory and autonomic neuropathy type 1; HSAN1; Hereditary sensory and autonomic neuropathy type I (ORPHA:36386)
Association type: UNKNOWN
Gene: ATL1
Disease: Autosomal dominant spastic paraplegia type 3; Autosomal dominant spastic paraplegia type 3A; SPG3A; Strümpell disease (ORPHA:100984)
Association type: UNKNOWN
Gene: ALG3
Disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id (OMIM:601110)
Association type: MENDELIAN
Gene: ALG3
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: ALG3
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: ALG3
Disease: ALG3-CDG; CDG syndrome type Id; CDG-Id; CDG1D; Carbohydrate deficient glycoprotein syndrome type Id; Congenital disorder of glycosylation type 1d; Congenital disorder of glycosylation type Id; Mannosyltransferase 6 deficiency (ORPHA:79321)
Association type: UNKNOWN
Gene: PCSK9
Disease: HYPERCHOLESTEROLEMIA, FAMILIAL, 3 (OMIM:603776)
Association type: MENDELIAN
Gene: PCSK9
Disease: Homozygous familial hypercholesterolemia; HoFH (ORPHA:391665)
Association type: UNKNOWN
Gene: PPIL1
Disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 14 (OMIM:619301)
Association type: MENDELIAN
Gene: CDC40
Disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 15 (OMIM:619302)
Association type: MENDELIAN
Gene: DMP1
Disease: HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL RECESSIVE, 1 (OMIM:241520)
Association type: MENDELIAN
Gene: DMP1
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: DMP1
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: DMP1
Disease: Autosomal recessive hypophosphatemic rickets; ARHR (ORPHA:289176)
Association type: UNKNOWN
Gene: EXOSC1
Disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 1F (OMIM:619304)
Association type: MENDELIAN
Gene: EXOC2
Disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA (OMIM:619306)
Association type: MENDELIAN
Gene: SPATA16
Disease: SPERMATOGENIC FAILURE 6 (OMIM:102530)
Association type: MENDELIAN
Gene: SPATA16
Disease: Male infertility due to globozoospermia; Male infertility due to round-headed spermatozoa; Round-headed sperm syndrome (ORPHA:171709)
Association type: UNKNOWN
Gene: SETX
Disease: AMYOTROPHIC LATERAL SCLEROSIS 4, JUVENILE (OMIM:602433)
Association type: MENDELIAN
Gene: SETX
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY 2 (OMIM:606002)
Association type: MENDELIAN
Gene: SETX
Disease: Spinocerebellar ataxia with axonal neuropathy type 2; AOA2; Ataxia-oculomotor apraxia type 2; SCAN 2; SCAR1 (ORPHA:64753)
Association type: UNKNOWN
Gene: SETX
Disease: Amyotrophic lateral sclerosis type 4; ALS4; Distal hereditary motor neuropathy with upper motor neuron signs; dHMN with upper motor neuron signs (ORPHA:357043)
Association type: UNKNOWN
Gene: RALA
Disease: HIATT-NEU-COOPER NEURODEVELOPMENTAL SYNDROME (OMIM:619311)
Association type: MENDELIAN
Gene: RALA
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: RALA
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: RALA
Disease: Non-specific syndromic intellectual disability; Complex neurodevelopmental disorder (ORPHA:528084)
Association type: UNKNOWN
Gene: SPEN
Disease: RADIO-TARTAGLIA SYNDROME (OMIM:619312)
Association type: MENDELIAN
Gene: SPEN
Disease: Neurodevelopmental delay-congenital heart defects-intellectual disability syndrome; Radio-Tartaglia syndrome; SPEN-related neurodevelopmental disorder (ORPHA:662234)
Association type: UNKNOWN
Gene: SPEN
Disease: 1p36 deletion syndrome; Del(1)(p36); Deletion 1p36; Deletion 1pter; Monosomy 1p36; Monosomy 1pter; Subtelomeric 1p36 deletion (ORPHA:1606)
Association type: UNKNOWN
Gene: MCM10
Disease: IMMUNODEFICIENCY 80 WITH OR WITHOUT CONGENITAL CARDIOMYOPATHY (OMIM:619313)
Association type: MENDELIAN
Gene: SIAH1
Disease: BURATTI-HAREL SYNDROME (OMIM:619314)
Association type: MENDELIAN
Gene: SIAH1
Disease: Non-specific syndromic intellectual disability; Complex neurodevelopmental disorder (ORPHA:528084)
Association type: UNKNOWN
Gene: POLR3K
Disease: LEUKODYSTROPHY, HYPOMYELINATING, 21 (OMIM:619310)
Association type: MENDELIAN
Gene: SLC31A1
Disease: NEURODEGENERATION AND SEIZURES DUE TO COPPER TRANSPORT DEFECT (OMIM:620306)
Association type: MENDELIAN
Gene: ROBO1
Disease: NEUROOCULORENAL SYNDROME (OMIM:620305)
Association type: MENDELIAN
Gene: ROBO1
Disease: PITUITARY HORMONE DEFICIENCY, COMBINED OR ISOLATED, 8 (OMIM:620303)
Association type: MENDELIAN
Gene: ROBO1
Disease: NYSTAGMUS 8, CONGENITAL, AUTOSOMAL RECESSIVE (OMIM:257400)
Association type: MENDELIAN
Gene: ROBO1
Disease: Pituitary stalk interruption syndrome; Ectopic neurohypophysis; PSIS (ORPHA:95496)
Association type: UNKNOWN
Gene: CAPN15
Disease: OCULOGASTROINTESTINAL NEURODEVELOPMENTAL SYNDROME (OMIM:619318)
Association type: MENDELIAN
Gene: CAPN15
Disease: Oculogastrointestinal-neurodevelopmental syndrome; OGIN Syndrome (ORPHA:611201)
Association type: UNKNOWN
Gene: HADHB
Disease: MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY 2 (OMIM:620300)
Association type: MENDELIAN
Gene: HADHB
Disease: Mitochondrial trifunctional protein deficiency; TFP deficiency; TFPD (ORPHA:746)
Association type: UNKNOWN
Gene: TBC1D2B
Disease: NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND GINGIVAL OVERGROWTH (OMIM:619323)
Association type: MENDELIAN
Gene: CREB3L3
Disease: HYPERTRIGLYCERIDEMIA 2 (OMIM:619324)
Association type: MENDELIAN
Gene: CREB3L3
Disease: Transient infantile hypertriglyceridemia and hepatosteatosis; Transient infantile hypertriglyceridemia and fatty liver (ORPHA:300293)
Association type: UNKNOWN
Gene: BICRA
Disease: COFFIN-SIRIS SYNDROME 12 (OMIM:619325)
Association type: MENDELIAN
Gene: KDM4B
Disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65 (OMIM:619320)
Association type: MENDELIAN
Gene: KDM4B
Disease: Non-specific syndromic intellectual disability; Complex neurodevelopmental disorder (ORPHA:528084)
Association type: UNKNOWN
Gene: ZPR1
Disease: GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES (OMIM:619321)
Association type: MENDELIAN
Gene: KPNA7
Disease: OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 17 (OMIM:620319)
Association type: MENDELIAN
Gene: KPNA7
Disease: Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome (ORPHA:401959)
Association type: UNKNOWN
Gene: EIF2B5
Disease: LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER 5 (OMIM:620315)
Association type: MENDELIAN
Gene: EIF2B5
Disease: Ovarioleukodystrophy (ORPHA:99853)
Association type: UNKNOWN
Gene: EIF2B5
Disease: Cree leukoencephalopathy (ORPHA:99854)
Association type: UNKNOWN
Gene: EIF2B5
Disease: Late infantile CACH syndrome (ORPHA:157716)
Association type: UNKNOWN
Gene: EIF2B5
Disease: Juvenile or adult CACH syndrome (ORPHA:157719)
Association type: UNKNOWN
Gene: EIF2B5
Disease: Congenital or early infantile CACH syndrome (ORPHA:157713)
Association type: UNKNOWN
Gene: CPE
Disease: BDV SYNDROME (OMIM:619326)
Association type: MENDELIAN
Gene: CPE
Disease: CPE-related Prader-Willi-like syndrome; BDV syndrome; Blakemore-Durmaz-Vasileiou syndrome (ORPHA:633028)
Association type: UNKNOWN
Gene: PSAT1
Disease: PHOSPHOSERINE AMINOTRANSFERASE DEFICIENCY (OMIM:610992)
Association type: MENDELIAN
Gene: PSAT1
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: PSAT1
Disease: NEU-LAXOVA SYNDROME 2 (OMIM:616038)
Association type: MENDELIAN
Gene: PSAT1
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: PSAT1
Disease: Phosphoserine aminotransferase deficiency, infantile/juvenile form; PSAT deficiency, infantile/juvenile form (ORPHA:284417)
Association type: UNKNOWN
Gene: PSAT1
Disease: Neu-Laxova syndrome due to phosphoserine aminotransferase deficiency; Phosphoserine aminotransferase deficiency, prenatal form (ORPHA:583602)
Association type: UNKNOWN
Gene: CAMSAP1
Disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 12 (OMIM:620316)
Association type: MENDELIAN
Gene: EIF2B3
Disease: LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER 3 (OMIM:620313)
Association type: MENDELIAN
Gene: EIF2B3
Disease: Ovarioleukodystrophy (ORPHA:99853)
Association type: UNKNOWN
Gene: EIF2B3
Disease: Cree leukoencephalopathy (ORPHA:99854)
Association type: UNKNOWN
Gene: EIF2B3
Disease: Late infantile CACH syndrome (ORPHA:157716)
Association type: UNKNOWN
Gene: EIF2B3
Disease: Juvenile or adult CACH syndrome (ORPHA:157719)
Association type: UNKNOWN
Gene: EIF2B3
Disease: Congenital or early infantile CACH syndrome (ORPHA:157713)
Association type: UNKNOWN
Gene: CLDN11
Disease: LEUKODYSTROPHY, HYPOMYELINATING, 22 (OMIM:619328)
Association type: MENDELIAN
Gene: EIF2B4
Disease: LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER 4 (OMIM:620314)
Association type: MENDELIAN
Gene: EIF2B4
Disease: Ovarioleukodystrophy (ORPHA:99853)
Association type: UNKNOWN
Gene: EIF2B4
Disease: Cree leukoencephalopathy (ORPHA:99854)
Association type: UNKNOWN
Gene: EIF2B4
Disease: Late infantile CACH syndrome (ORPHA:157716)
Association type: UNKNOWN
Gene: EIF2B4
Disease: Juvenile or adult CACH syndrome (ORPHA:157719)
Association type: UNKNOWN
Gene: EIF2B4
Disease: Congenital or early infantile CACH syndrome (ORPHA:157713)
Association type: UNKNOWN
Gene: COL5A1
Disease: FIBROMUSCULAR DYSPLASIA, MULTIFOCAL (OMIM:619329)
Association type: MENDELIAN
Gene: COL5A1
Disease: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 (OMIM:130000)
Association type: MENDELIAN
Gene: COL5A1
Disease: Classical Ehlers-Danlos syndrome; Classical EDS; cEDS (ORPHA:287)
Association type: UNKNOWN
Gene: EIF2B2
Disease: LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER 2 (OMIM:620312)
Association type: MENDELIAN
Gene: EIF2B2
Disease: Ovarioleukodystrophy (ORPHA:99853)
Association type: UNKNOWN
Gene: EIF2B2
Disease: Cree leukoencephalopathy (ORPHA:99854)
Association type: UNKNOWN
Gene: EIF2B2
Disease: Late infantile CACH syndrome (ORPHA:157716)
Association type: UNKNOWN
Gene: EIF2B2
Disease: Juvenile or adult CACH syndrome (ORPHA:157719)
Association type: UNKNOWN
Gene: EIF2B2
Disease: Congenital or early infantile CACH syndrome (ORPHA:157713)
Association type: UNKNOWN
Gene: HOXB13
Disease: PROSTATE CANCER, HEREDITARY, 9 (OMIM:610997)
Association type: POLYGENIC
Gene: HOXB13
Disease: Familial prostate cancer (ORPHA:1331)
Association type: UNKNOWN
Gene: RYR3
Disease: CONGENITAL MYOPATHY 20 (OMIM:620310)
Association type: MENDELIAN
Gene: CHST6
Disease: MACULAR DYSTROPHY, CORNEAL (OMIM:217800)
Association type: MENDELIAN
Gene: CHST6
Disease: Macular corneal dystrophy; Corneal dystrophy Groenouw type II; Fehr corneal dystrophy; MCD (ORPHA:98969)
Association type: UNKNOWN
Gene: GEMIN5
Disease: NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND MOTOR DYSFUNCTION (OMIM:619333)
Association type: MENDELIAN
Gene: GEMIN5
Disease: Autosomal recessive non-syndromic intellectual disability; AR-NSID; NS-ARID (ORPHA:88616)
Association type: UNKNOWN
Gene: NEB
Disease: ARTHROGRYPOSIS MULTIPLEX CONGENITA 6 (OMIM:619334)
Association type: MENDELIAN
Gene: NEB
Disease: NEMALINE MYOPATHY 2 (OMIM:256030)
Association type: MENDELIAN
Gene: NEB
Disease: Distal nebulin myopathy; Nebulin-related early-onset distal myopathy (ORPHA:399103)
Association type: UNKNOWN
Gene: NEB
Disease: Typical nemaline myopathy (ORPHA:171436)
Association type: UNKNOWN
Gene: NEB
Disease: Intermediate nemaline myopathy (ORPHA:171433)
Association type: UNKNOWN
Gene: NEB
Disease: Severe congenital nemaline myopathy (ORPHA:171430)
Association type: UNKNOWN
Gene: NEB
Disease: Childhood-onset nemaline myopathy; Mild nemaline myopathy (ORPHA:171439)
Association type: UNKNOWN
Gene: NEB
Disease: Lethal multiple pterygium syndrome; Autosomal recessive lethal multiple pterygium syndrome; LMPS (ORPHA:33108)
Association type: UNKNOWN
Gene: RHOBTB2
Disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 64 (OMIM:618004)
Association type: MENDELIAN
Gene: RHOBTB2
Disease: Alternating hemiplegia of childhood; AHC (ORPHA:2131)
Association type: UNKNOWN
Gene: FUT8
Disease: CONGENITAL DISORDER OF GLYCOSYLATION WITH DEFECTIVE FUCOSYLATION 1 (OMIM:618005)
Association type: MENDELIAN
Gene: GPC6
Disease: OMODYSPLASIA 1 (OMIM:258315)
Association type: MENDELIAN
Gene: GPC6
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: GPC6
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: GPC6
Disease: Autosomal recessive omodysplasia; Micromelic dysplasia-dislocation of radius syndrome (ORPHA:93329)
Association type: UNKNOWN
Gene: DNAJB4
Disease: CONGENITAL MYOPATHY 21 WITH EARLY RESPIRATORY FAILURE (OMIM:620326)
Association type: MENDELIAN
Gene: DNAJB4
Disease:  (ORPHA:700170)
Association type: UNKNOWN
Gene: AIMP2
Disease: LEUKODYSTROPHY, HYPOMYELINATING, 17 (OMIM:618006)
Association type: MENDELIAN
Gene: MED11
Disease: NEURODEGENERATION WITH DEVELOPMENTAL DELAY, EARLY RESPIRATORY FAILURE, MYOCLONIC SEIZURES, AND BRAIN ABNORMALITIES (OMIM:620327)
Association type: MENDELIAN
Gene: FAR1
Disease: CATARACTS, SPASTIC PARAPARESIS, AND SPEECH DELAY (OMIM:619338)
Association type: MENDELIAN
Gene: FAR1
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: FAR1
Disease: PEROXISOMAL FATTY ACYL-CoA REDUCTASE 1 DISORDER (OMIM:616154)
Association type: MENDELIAN
Gene: FAR1
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: FAR1
Disease: Fatty acyl-CoA reductase 1 deficiency; FAR1 deficiency; PFCRD; Peroxisomal fatty acyl-CoA reductase 1 disorder (ORPHA:438178)
Association type: UNKNOWN
Gene: FAR1
Disease: Spastic paraparesis-cataracts-speech delay syndrome; Fatty acyl-CoA reductase 1 superactivity (ORPHA:615938)
Association type: UNKNOWN
Gene: CHUK
Disease: BARTSOCAS-PAPAS SYNDROME 2 (OMIM:619339)
Association type: MENDELIAN
Gene: CHUK
Disease: FETAL ENCASEMENT SYNDROME (OMIM:613630)
Association type: MENDELIAN
Gene: CHUK
Disease: Fetal encasement syndrome (ORPHA:465824)
Association type: UNKNOWN
Gene: CHUK
Disease:  (ORPHA:697403)
Association type: UNKNOWN
Gene: CYFIP2
Disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 65 (OMIM:618008)
Association type: MENDELIAN
Gene: CYFIP2
Disease: Non-specific early-onset epileptic encephalopathy; Non-specific EOEE; Undetermined EOEE; Undetermined early-onset epileptic encephalopathy (ORPHA:442835)
Association type: UNKNOWN
Gene: MED13
Disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 61 (OMIM:618009)
Association type: MENDELIAN
Gene: MED13
Disease: Non-specific syndromic intellectual disability; Complex neurodevelopmental disorder (ORPHA:528084)
Association type: UNKNOWN
Gene: C1QC
Disease: C1q DEFICIENCY 3 (OMIM:620322)
Association type: MENDELIAN
Gene: C1QC
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: C1QB
Disease: C1q DEFICIENCY 2 (OMIM:620321)
Association type: MENDELIAN
Gene: C1QB
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: ATP2C1
Disease: BENIGN CHRONIC PEMPHIGUS (OMIM:169600)
Association type: MENDELIAN
Gene: ATP2C1
Disease: Hailey-Hailey disease; Benign chronic familial pemphigus (ORPHA:2841)
Association type: UNKNOWN
Gene: ST14
Disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 11 (OMIM:602400)
Association type: MENDELIAN
Gene: ST14
Disease: Ichthyosis-hypotrichosis syndrome; Hypotrichosis-congenital ichthyosis syndrome; IFAH syndrome; IHS; Ichthyosis-follicular atrophoderma-hypotrichosis syndrome; Ichthyosis-follicular atrophoderma-hypotrichosis-hypohidrosis syndrome (ORPHA:91132)
Association type: UNKNOWN
Gene: ESRP1
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 109 (OMIM:618013)
Association type: MENDELIAN
Gene: LYSET
Disease: DYSOSTOSIS MULTIPLEX, AIN-NAZ TYPE (OMIM:619345)
Association type: MENDELIAN
Gene: LYSET
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: LYSET
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: GDF9
Disease: PREMATURE OVARIAN FAILURE 14 (OMIM:618014)
Association type: MENDELIAN
Gene: CLPX
Disease: PROTOPORPHYRIA, ERYTHROPOIETIC, 2 (OMIM:618015)
Association type: MENDELIAN
Gene: NSF
Disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 96 (OMIM:619340)
Association type: MENDELIAN
Gene: PIGH
Disease: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17 (OMIM:618010)
Association type: MENDELIAN
Gene: ATAD1
Disease: HYPEREKPLEXIA 4 (OMIM:618011)
Association type: MENDELIAN
Gene: ATAD1
Disease: Hereditary hyperekplexia; Congenital stiff man syndrome; Familial startle disease; Hereditary hyperexplexia; Kok disease; Stiff baby syndrome (ORPHA:3197)
Association type: UNKNOWN
Gene: GJB1
Disease: CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 1 (OMIM:302800)
Association type: MENDELIAN
Gene: GJB1
Disease: X-linked Charcot-Marie-Tooth disease type 1; CMT1X; CMTX1 (ORPHA:101075)
Association type: UNKNOWN
Gene: GJB1
Disease: X-linked progressive cerebellar ataxia (ORPHA:1175)
Association type: UNKNOWN
Gene: ATP6V1A
Disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 93 (OMIM:618012)
Association type: MENDELIAN
Gene: ATP6V1A
Disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID (OMIM:617403)
Association type: MENDELIAN
Gene: ATP6V1A
Disease: Non-specific early-onset epileptic encephalopathy; Non-specific EOEE; Undetermined EOEE; Undetermined early-onset epileptic encephalopathy (ORPHA:442835)
Association type: UNKNOWN
Gene: ATP6V1A
Disease: Autosomal recessive cutis laxa type 2, classic type; ARCL2, Debré type; ARCL2, classic type; Autosomal recessive cutis laxa type 2, Debré type (ORPHA:357074)
Association type: UNKNOWN
Gene: CYP2C8
Disease: DRUG METABOLISM, ALTERED, CYP2C8-RELATED (OMIM:618018)
Association type: POLYGENIC
Gene: NLRP5
Disease: OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 19 (OMIM:620333)
Association type: MENDELIAN
Gene: DPP9
Disease: HATIPOGLU IMMUNODEFICIENCY SYNDROME (OMIM:620331)
Association type: MENDELIAN
Gene: DPP9
Disease: Idiopathic pulmonary fibrosis; IPF (ORPHA:2032)
Association type: UNKNOWN
Gene: NLRP2
Disease: OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 18 (OMIM:620332)
Association type: MENDELIAN
Gene: RFX7
Disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 71, WITH BEHAVIORAL ABNORMALITIES (OMIM:620330)
Association type: MENDELIAN
Gene: MYH11
Disease: VISCERAL MYOPATHY 2 (OMIM:619350)
Association type: MENDELIAN
Gene: MYH11
Disease: MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 2 (OMIM:619351)
Association type: MENDELIAN
Gene: MYH11
Disease: TETRALOGY OF FALLOT (OMIM:187500)
Association type: MENDELIAN
Gene: MYH11
Disease: AORTIC ANEURYSM, FAMILIAL THORACIC 4 (OMIM:132900)
Association type: MENDELIAN
Gene: MYH11
Disease: Familial aortic dissection; Annuloaortic ectasia; Cystic medial necrosis of aorta (ORPHA:229)
Association type: UNKNOWN
Gene: MYH11
Disease: Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22); AML with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) (ORPHA:98829)
Association type: UNKNOWN
Gene: MYH11
Disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Association type: UNKNOWN
Gene: MYH11
Disease: Megacystis-microcolon-intestinal hypoperistalsis syndrome; Berdon syndrome; MMIHS; Megacystis-microcolon-intestinal hypoperistalsis-hydronephrosis syndrome (ORPHA:2241)
Association type: UNKNOWN
Gene: COX16
Disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 22 (OMIM:619355)
Association type: MENDELIAN
Gene: COX16
Disease: Isolated cytochrome C oxidase deficiency; Isolated COX deficiency; Isolated mitochondrial respiratory chain complex IV deficiency (ORPHA:254905)
Association type: UNKNOWN
Gene: PIGF
Disease: ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME (OMIM:619356)
Association type: MENDELIAN
Gene: KHK
Disease: FRUCTOSURIA, ESSENTIAL (OMIM:229800)
Association type: MENDELIAN
Gene: KHK
Disease: Essential fructosuria; Fructokinase deficiency; Ketohexokinase deficiency (ORPHA:2056)
Association type: UNKNOWN
Gene: DPF2
Disease: COFFIN-SIRIS SYNDROME 7 (OMIM:618027)
Association type: MENDELIAN
Gene: DPF2
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: DPF2
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: DPF2
Disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Association type: UNKNOWN
Gene: POU4F1
Disease: ATAXIA, INTENTION TREMOR, AND HYPOTONIA SYNDROME, CHILDHOOD-ONSET (OMIM:619352)
Association type: MENDELIAN
Gene: POU4F1
Disease: Non-progressive cerebellar ataxia with intellectual disability (ORPHA:314647)
Association type: UNKNOWN
Gene: RSPO2
Disease: TETRAAMELIA SYNDROME 2 (OMIM:618021)
Association type: MENDELIAN