TaoMedAI/RareMedData huggingface dataset:
Gene: RSPO2
Disease: HUMEROFEMORAL HYPOPLASIA WITH RADIOTIBIAL RAY DEFICIENCY (OMIM:618022)
Association type: MENDELIAN
Gene: RSPO2
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: RSPO2
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: RSPO2
Disease: Tetraamelia-multiple malformations syndrome; PAPPA syndrome; PAPPAS; Zimmer phocomelia (ORPHA:3301)
Association type: UNKNOWN
Gene: PSMC3
Disease: DEAFNESS, CATARACT, IMPAIRED INTELLECTUAL DEVELOPMENT, AND POLYNEUROPATHY (OMIM:619354)
Association type: MENDELIAN
Gene: OXCT1
Disease: SUCCINYL-CoA:3-OXOACID-CoA TRANSFERASE DEFICIENCY (OMIM:245050)
Association type: MENDELIAN
Gene: OXCT1
Disease: Succinyl-CoA:3-oxoacid CoA transferase deficiency; OXCT1 deficiency; SCOT deficiency; Succinyl-CoA acetoacetate transferase deficiency; Succinyl-CoA:3-ketoacid CoA transferase deficiency (ORPHA:832)
Association type: UNKNOWN
Gene: ANGPT1
Disease: ANGIOEDEMA, HEREDITARY, 5 (OMIM:619361)
Association type: MENDELIAN
Gene: ANGPT1
Disease: Hereditary angioedema with normal C1Inh not related to F12 or PLG variant (ORPHA:599418)
Association type: UNKNOWN
Gene: MYOF
Disease: ANGIOEDEMA, HEREDITARY, 7 (OMIM:619366)
Association type: MENDELIAN
Gene: MYOF
Disease: Hereditary angioedema with normal C1Inh not related to F12 or PLG variant (ORPHA:599418)
Association type: UNKNOWN
Gene: HS3ST6
Disease: ANGIOEDEMA, HEREDITARY, 8 (OMIM:619367)
Association type: MENDELIAN
Gene: HS3ST6
Disease: Hereditary angioedema with normal C1Inh not related to F12 or PLG variant (ORPHA:599418)
Association type: UNKNOWN
Gene: LMOD1
Disease: MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 3 (OMIM:619362)
Association type: MENDELIAN
Gene: LMOD1
Disease: Megacystis-microcolon-intestinal hypoperistalsis syndrome; Berdon syndrome; MMIHS; Megacystis-microcolon-intestinal hypoperistalsis-hydronephrosis syndrome (ORPHA:2241)
Association type: UNKNOWN
Gene: GRHL2
Disease: CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 4 (OMIM:618031)
Association type: MENDELIAN
Gene: GRHL2
Disease: DEAFNESS, AUTOSOMAL DOMINANT 28 (OMIM:608641)
Association type: MENDELIAN
Gene: GRHL2
Disease: ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME (OMIM:616029)
Association type: MENDELIAN
Gene: GRHL2
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: GRHL2
Disease: Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome; Ectodermal dysplasia-short stature syndrome; Short stature-nail dysplasia-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome (ORPHA:423454)
Association type: UNKNOWN
Gene: GRHL2
Disease: Posterior polymorphous corneal dystrophy; PPCD; Posterior polymorphous dystrophy; Schlichting dystrophy (ORPHA:98973)
Association type: UNKNOWN
Gene: KNG1
Disease: ANGIOEDEMA, HEREDITARY, 6 (OMIM:619363)
Association type: MENDELIAN
Gene: KNG1
Disease: HIGH MOLECULAR WEIGHT KININOGEN DEFICIENCY (OMIM:228960)
Association type: MENDELIAN
Gene: KNG1
Disease: Hereditary angioedema with normal C1Inh not related to F12 or PLG variant (ORPHA:599418)
Association type: UNKNOWN
Gene: KNG1
Disease: Congenital high-molecular-weight kininogen deficiency (ORPHA:483)
Association type: UNKNOWN
Gene: MYL9
Disease: MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 4 (OMIM:619365)
Association type: MENDELIAN
Gene: ATP5PO
Disease: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 7 (OMIM:620359)
Association type: MENDELIAN
Gene: ACSL5
Disease: DIARRHEA 13 (OMIM:620357)
Association type: MENDELIAN
Gene: DNAH7
Disease: CILIARY DYSKINESIA, PRIMARY, 50 (OMIM:620356)
Association type: MENDELIAN
Gene: AKAP3
Disease: SPERMATOGENIC FAILURE 82 (OMIM:620353)
Association type: MENDELIAN
Gene: AKAP3
Disease: Male infertility due to large-headed multiflagellar polyploid spermatozoa; Macrocephalic sperm head syndrome; Male infertility due to macrozoospermia (ORPHA:137893)
Association type: UNKNOWN
Gene: DNALI1
Disease: SPERMATOGENIC FAILURE 83 (OMIM:620354)
Association type: MENDELIAN
Gene: RPL3L
Disease: CARDIOMYOPATHY, DILATED, 2D (OMIM:619371)
Association type: MENDELIAN
Gene: RPL3L
Disease: Familial isolated dilated cardiomyopathy; Familial or idiopathic dilated cardiomyopathy (ORPHA:154)
Association type: UNKNOWN
Gene: IL1R1
Disease: CHRONIC RECURRENT MULTIFOCAL OSTEOMYELITIS 3 (OMIM:259680)
Association type: MENDELIAN
Gene: UNC45A
Disease: OSTEOOTOHEPATOENTERIC SYNDROME (OMIM:619377)
Association type: MENDELIAN
Gene: CATIP
Disease: SPERMATOGENIC FAILURE 54 (OMIM:619379)
Association type: MENDELIAN
Gene: CATIP
Disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Association type: UNKNOWN
Gene: POMP
Disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 2 (OMIM:618048)
Association type: MENDELIAN
Gene: POMP
Disease: KERATOSIS LINEARIS WITH ICHTHYOSIS CONGENITA AND SCLEROSING KERATODERMA (OMIM:601952)
Association type: MENDELIAN
Gene: POMP
Disease: Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome; KLICK syndrome (ORPHA:281201)
Association type: UNKNOWN
Gene: SLC18A2
Disease: PARKINSONISM-DYSTONIA, INFANTILE, 2 (OMIM:618049)
Association type: MENDELIAN
Gene: SLC18A2
Disease: Brain dopamine-serotonin vesicular transport disease (ORPHA:352649)
Association type: UNKNOWN
Gene: NCDN
Disease: NEURODEVELOPMENTAL DISORDER WITH INFANTILE EPILEPTIC SPASMS (OMIM:619373)
Association type: MENDELIAN
Gene: NCDN
Disease: Autosomal recessive non-syndromic intellectual disability; AR-NSID; NS-ARID (ORPHA:88616)
Association type: UNKNOWN
Gene: OAS1
Disease: PULMONARY ALVEOLAR PROTEINOSIS WITH HYPOGAMMAGLOBULINEMIA (OMIM:618042)
Association type: MENDELIAN
Gene: OAS1
Disease: Infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia; OAS1 deficiency; OAS1-related infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia (ORPHA:572428)
Association type: UNKNOWN
Gene: LCP2
Disease: IMMUNODEFICIENCY 81 (OMIM:619374)
Association type: MENDELIAN
Gene: SOCS1
Disease: AUTOINFLAMMATORY SYNDROME, FAMILIAL, WITH OR WITHOUT IMMUNODEFICIENCY (OMIM:619375)
Association type: MENDELIAN
Gene: SOCS1
Disease: Early-onset autoimmunity-autoinflammation-immunodeficiency syndrome due to SOCS1 haploinsufficiency; Early-onset autoimmunity-autoinflammation-immunodeficiency syndrome due to suppressor of cytokine signaling 1 haploinsufficiency; SOCS1-related autoinflammatory syndrome (ORPHA:619948)
Association type: UNKNOWN
Gene: EIF5A
Disease: FAUNDES-BANKA SYNDROME (OMIM:619376)
Association type: MENDELIAN
Gene: EIF5A
Disease: Non-specific syndromic intellectual disability; Complex neurodevelopmental disorder (ORPHA:528084)
Association type: UNKNOWN
Gene: SLC4A2
Disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 9 (OMIM:620366)
Association type: MENDELIAN
Gene: NAF1
Disease: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 7 (OMIM:620365)
Association type: MENDELIAN
Gene: SPAG17
Disease: SPERMATOGENIC FAILURE 55 (OMIM:619380)
Association type: MENDELIAN
Gene: SPAG17
Disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Association type: UNKNOWN
Gene: SPAG17
Disease: Non-syndromic male infertility due to sperm motility disorder; Non-syndromic male infertility due asthenozoospermia (ORPHA:276234)
Association type: UNKNOWN
Gene: RECQL
Disease: RECON PROGEROID SYNDROME (OMIM:620370)
Association type: MENDELIAN
Gene: SYK
Disease: IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION (OMIM:619381)
Association type: MENDELIAN
Gene: SYK
Disease:  (ORPHA:695807)
Association type: UNKNOWN
Gene: TLK2
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 57 (OMIM:618050)
Association type: MENDELIAN
Gene: DNAJC30
Disease: LEBER-LIKE HEREDITARY OPTIC NEUROPATHY, AUTOSOMAL RECESSIVE 1 (OMIM:619382)
Association type: MENDELIAN
Gene: DNAJC30
Disease: Leber hereditary optic neuropathy; LHON; Leber optic atrophy (ORPHA:104)
Association type: UNKNOWN
Gene: DNAJC30
Disease: Williams syndrome; Deletion 7q11.23; Monosomy 7q11.23; Williams-Beuren syndrome (ORPHA:904)
Association type: UNKNOWN
Gene: PPP1R21
Disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES (OMIM:619383)
Association type: MENDELIAN
Gene: PPP1R21
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: PPP1R21
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: ALPK3
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC 27 (OMIM:618052)
Association type: MENDELIAN
Gene: CES1
Disease: DRUG METABOLISM, ALTERED, CES1-RELATED (OMIM:618057)
Association type: MENDELIAN
Gene: TBX15
Disease: COUSIN SYNDROME (OMIM:260660)
Association type: MENDELIAN
Gene: TBX15
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: TBX15
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: TBX15
Disease: Pelviscapular dysplasia; Cousin syndrome; Familial pelvis-scapular dysplasia (ORPHA:93333)
Association type: UNKNOWN
Gene: VPS41
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 29 (OMIM:619389)
Association type: MENDELIAN
Gene: VPS41
Disease: Autosomal recessive cerebellar ataxia-movement disorder syndrome; SCAR4; SCASI (ORPHA:95434)
Association type: UNKNOWN
Gene: NFS1
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 52 (OMIM:619386)
Association type: MENDELIAN
Gene: NFS1
Disease: Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency (ORPHA:397593)
Association type: UNKNOWN
Gene: HEPHL1
Disease: ABNORMAL HAIR, JOINT LAXITY, AND DEVELOPMENTAL DELAY (OMIM:261990)
Association type: MENDELIAN
Gene: BRAT1
Disease: NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES (OMIM:618056)
Association type: MENDELIAN
Gene: BRAT1
Disease: RIGIDITY AND MULTIFOCAL SEIZURE SYNDROME, LETHAL NEONATAL (OMIM:614498)
Association type: MENDELIAN
Gene: BRAT1
Disease: Lethal neonatal spasticity-epileptic encephalopathy syndrome; Lethal neonatal rigidity-multifocal seizure syndrome (ORPHA:435845)
Association type: UNKNOWN
Gene: AMFR
Disease: SPASTIC PARAPLEGIA 89, AUTOSOMAL RECESSIVE (OMIM:620379)
Association type: MENDELIAN
Gene: LYN
Disease: AUTOINFLAMMATORY DISEASE, SYSTEMIC, WITH VASCULITIS (OMIM:620376)
Association type: MENDELIAN
Gene: OXGR1
Disease: NEPHROLITHIASIS, CALCIUM OXALATE, 2, WITH OR WITHOUT NEPHROCALCINOSIS (OMIM:620374)
Association type: MENDELIAN
Gene: ESAM
Disease: NEURODEVELOPMENTAL DISORDER WITH INTRACRANIAL HEMORRHAGE, SEIZURES, AND SPASTICITY (OMIM:620371)
Association type: MENDELIAN
Gene: NDUFA8
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 37 (OMIM:619272)
Association type: MENDELIAN
Gene: VPS4A
Disease: CIMDAG SYNDROME (OMIM:619273)
Association type: MENDELIAN
Gene: VPS4A
Disease: Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome; CIMDAG syndrome (ORPHA:603448)
Association type: UNKNOWN
Gene: YIPF5
Disease: MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME 2 (OMIM:619278)
Association type: MENDELIAN
Gene: YIPF5
Disease: Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome (ORPHA:306558)
Association type: UNKNOWN
Gene: UQCRC1
Disease: PARKINSONISM WITH POLYNEUROPATHY (OMIM:619279)
Association type: MENDELIAN
Gene: SLC6A3
Disease: TOBACCO ADDICTION, SUSCEPTIBILITY TO (OMIM:188890)
Association type: POLYGENIC
Gene: SLC6A3
Disease: PARKINSONISM-DYSTONIA, INFANTILE, 1 (OMIM:613135)
Association type: MENDELIAN
Gene: SLC6A3
Disease: Infantile dystonia-parkinsonism; DTDS; Dopamine transporter deficiency syndrome; IPD; PKDYS (ORPHA:238455)
Association type: UNKNOWN
Gene: CHRNA4
Disease: TOBACCO ADDICTION, SUSCEPTIBILITY TO (OMIM:188890)
Association type: POLYGENIC
Gene: CHRNA4
Disease: EPILEPSY, NOCTURNAL FRONTAL LOBE, 1 (OMIM:600513)
Association type: MENDELIAN
Gene: CHRNA4
Disease: Autosomal dominant nocturnal frontal lobe epilepsy; ADNFLE; Autosomal dominant sleep-related hypermotor epilepsy (ORPHA:98784)
Association type: UNKNOWN
Gene: MATR3
Disease: AMYOTROPHIC LATERAL SCLEROSIS 21 (OMIM:606070)
Association type: MENDELIAN
Gene: MATR3
Disease: Amyotrophic lateral sclerosis; ALS; Charcot disease; Lou Gehrig disease (ORPHA:803)
Association type: UNKNOWN
Gene: MATR3
Disease: Vocal cord and pharyngeal distal myopathy; Distal myopathy with vocal cord weakness; MATR3-related distal myopathy; VCPDM (ORPHA:600)
Association type: UNKNOWN
Gene: SLC35B2
Disease: LEUKODYSTROPHY, HYPOMYELINATING, 26, WITH CHONDRODYSPLASIA (OMIM:620269)
Association type: MENDELIAN
Gene: UBE3C
Disease: NEURODEVELOPMENTAL DISORDER WITH ABSENT SPEECH AND MOVEMENT AND BEHAVIORAL ABNORMALITIES (OMIM:620270)
Association type: MENDELIAN
Gene: MED27
Disease: NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA (OMIM:619286)
Association type: MENDELIAN
Gene: MED27
Disease: Non-specific syndromic intellectual disability; Complex neurodevelopmental disorder (ORPHA:528084)
Association type: UNKNOWN
Gene: MRAP
Disease: GLUCOCORTICOID DEFICIENCY 2 (OMIM:607398)
Association type: MENDELIAN
Gene: MRAP
Disease: Familial glucocorticoid deficiency (ORPHA:361)
Association type: UNKNOWN
Gene: CDC20
Disease: OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 14 (OMIM:620276)
Association type: MENDELIAN
Gene: TEKT3
Disease: SPERMATOGENIC FAILURE 81 (OMIM:620277)
Association type: MENDELIAN
Gene: SLC40A1
Disease: HEMOCHROMATOSIS, TYPE 4 (OMIM:606069)
Association type: MENDELIAN
Gene: SLC40A1
Disease: SLC40A1-related hemochromatosis (ORPHA:647834)
Association type: UNKNOWN
Gene: SLC40A1
Disease: Ferroportin disease (ORPHA:648562)
Association type: UNKNOWN
Gene: COX11
Disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 23 (OMIM:620275)
Association type: MENDELIAN
Gene: PI4KB
Disease: DEAFNESS, AUTOSOMAL DOMINANT 87 (OMIM:620281)
Association type: MENDELIAN
Gene: TNFRSF9
Disease: IMMUNODEFICIENCY 109 WITH LYMPHOPROLIFERATION (OMIM:620282)
Association type: MENDELIAN
Gene: TNFRSF9
Disease: EBV-induced lymphoproliferative disease due to CD137 deficiency; Epstein-Barr virus-induced lymphoproliferative disease due to Cell differentiation 137 protein deficiency (ORPHA:664726)
Association type: UNKNOWN
Gene: FYB1
Disease: THROMBOCYTOPENIA 3 (OMIM:273900)
Association type: MENDELIAN
Gene: FYB1
Disease: Congenital autosomal recessive small-platelet thrombocytopenia; CARST (ORPHA:566192)
Association type: UNKNOWN
Gene: SPG21
Disease: MAST SYNDROME (OMIM:248900)
Association type: MENDELIAN
Gene: SPG21
Disease: Autosomal recessive spastic paraplegia type 21; Mast syndrome; SPG21 (ORPHA:101001)
Association type: UNKNOWN
Gene: THOC1
Disease: DEAFNESS, AUTOSOMAL DOMINANT 86 (OMIM:620280)
Association type: MENDELIAN
Gene: GCGR
Disease: MAHVASH DISEASE (OMIM:619290)
Association type: MENDELIAN
Gene: GCGR
Disease: GCGR-related hyperglucagonemia; Mahvash disease (ORPHA:438274)
Association type: UNKNOWN
Gene: TSPAN7
Disease: MENTAL RETARDATION, X-LINKED 58 (OMIM:300210)
Association type: MENDELIAN
Gene: TSPAN7
Disease: X-linked non-syndromic intellectual disability (ORPHA:777)
Association type: UNKNOWN
Gene: VPS16
Disease: DYSTONIA 30 (OMIM:619291)
Association type: MENDELIAN
Gene: AFF3
Disease: KINSSHIP SYNDROME (OMIM:619297)
Association type: MENDELIAN
Gene: AFF3
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: AFF3
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: AFF3
Disease: Mesomelic dysplasia-digital anomalies-intellectual disability syndrome (ORPHA:632603)
Association type: UNKNOWN
Gene: MOGS
Disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIb (OMIM:606056)
Association type: MENDELIAN
Gene: MOGS
Disease: MOGS-CDG; CDG syndrome type IIb; CDG-IIb; CDG2B; Carbohydrate deficient glycoprotein syndrome type IIb; Congenital disorder of glycosylation type 2b; Congenital disorder of glycosylation type IIb; Glucosidase 1 deficiency (ORPHA:79330)
Association type: UNKNOWN
Gene: SPTLC1
Disease: AMYOTROPHIC LATERAL SCLEROSIS 27, JUVENILE (OMIM:620285)
Association type: MENDELIAN
Gene: SPTLC1
Disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IA (OMIM:162400)
Association type: MENDELIAN
Gene: SPTLC1
Disease: Hereditary sensory and autonomic neuropathy type 1; HSAN1; Hereditary sensory and autonomic neuropathy type I (ORPHA:36386)
Association type: UNKNOWN
Gene: SPTLC1
Disease: Juvenile amyotrophic lateral sclerosis; JALS; Juvenile Charcot disease; Juvenile Lou Gehrig disease (ORPHA:300605)
Association type: UNKNOWN
Gene: TBR1
Disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISM AND SPEECH DELAY (OMIM:606053)
Association type: MENDELIAN
Gene: TBR1
Disease: Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to 2q24 microdeletion; Del(2)(q24); Monosomy 2q24 (ORPHA:1617)
Association type: UNKNOWN
Gene: TBR1
Disease: Non-specific syndromic intellectual disability; Complex neurodevelopmental disorder (ORPHA:528084)
Association type: UNKNOWN
Gene: MB
Disease: MYOPATHY, SARCOPLASMIC BODY (OMIM:620286)
Association type: MENDELIAN
Gene: EPHA10
Disease: DEAFNESS, AUTOSOMAL DOMINANT 88 (OMIM:620283)
Association type: MENDELIAN
Gene: ATOH1
Disease: DEAFNESS, AUTOSOMAL DOMINANT 89 (OMIM:620284)
Association type: MENDELIAN
Gene: PCCA
Disease: PROPIONIC ACIDEMIA (OMIM:606054)
Association type: MENDELIAN
Gene: PCCA
Disease: Propionic acidemia; Ketotic hyperglycinemia; Propionic aciduria; Propionyl-CoA carboxylase deficiency (ORPHA:35)
Association type: UNKNOWN
Gene: PCCB
Disease: PROPIONIC ACIDEMIA (OMIM:606054)
Association type: MENDELIAN
Gene: PCCB
Disease: Propionic acidemia; Ketotic hyperglycinemia; Propionic aciduria; Propionyl-CoA carboxylase deficiency (ORPHA:35)
Association type: UNKNOWN
Gene: AGO1
Disease: NEURODEVELOPMENTAL DISORDER WITH LANGUAGE DELAY AND BEHAVIORAL ABNORMALITIES, WITH OR WITHOUT SEIZURES (OMIM:620292)
Association type: MENDELIAN
Gene: AGO1
Disease: Non-specific syndromic intellectual disability; Complex neurodevelopmental disorder (ORPHA:528084)
Association type: UNKNOWN
Gene: MOCS2
Disease: MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP B (OMIM:252160)
Association type: MENDELIAN
Gene: MOCS2
Disease: Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B; Combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type B; MOCOD type B (ORPHA:308393)
Association type: UNKNOWN
Gene: FCGR3A
Disease: IMMUNODEFICIENCY 20 (OMIM:615707)
Association type: MENDELIAN
Gene: FCGR3A
Disease: Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity; Autosomal recessive primary immunodeficiency with defective spontaneous NK cell cytotoxicity; CD16 deficiency (ORPHA:437552)
Association type: UNKNOWN
Gene: FAM111B
Disease: POIKILODERMA, HEREDITARY FIBROSING, WITH TENDON CONTRACTURES, MYOPATHY, AND PULMONARY FIBROSIS (OMIM:615704)
Association type: MENDELIAN
Gene: FAM111B
Disease: Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome; POIKTMP syndrome (ORPHA:221043)
Association type: UNKNOWN
Gene: RUBCN
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 15 (OMIM:615705)
Association type: MENDELIAN
Gene: RUBCN
Disease: Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency; Autosomal recessive spinocerebellar ataxia type 15; SCAR15; Salih ataxia (ORPHA:404499)
Association type: UNKNOWN
Gene: HCK
Disease: AUTOINFLAMMATION WITH PULMONARY AND CUTANEOUS VASCULITIS (OMIM:620296)
Association type: MENDELIAN
Gene: PLXND1
Disease: CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 9 (OMIM:620294)
Association type: MENDELIAN
Gene: PLXND1
Disease: TETRALOGY OF FALLOT (OMIM:187500)
Association type: MENDELIAN
Gene: PLXND1
Disease: Common arterial trunk; CAT; Common aorticopulmonary trunk; Truncus arteriosus (ORPHA:3384)
Association type: UNKNOWN
Gene: PLXND1
Disease: Moebius syndrome; Möbius syndrome (ORPHA:570)
Association type: UNKNOWN
Gene: TBXT
Disease: SACRAL AGENESIS WITH VERTEBRAL ANOMALIES (OMIM:615709)
Association type: MENDELIAN
Gene: TBXT
Disease: NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO (OMIM:182940)
Association type: POLYGENIC
Gene: TBXT
Disease: Chordoma; Notochordal sarcoma (ORPHA:178)
Association type: UNKNOWN
Gene: TBXT
Disease: Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome (ORPHA:397927)
Association type: UNKNOWN
Gene: RFX6
Disease: MITCHELL-RILEY SYNDROME (OMIM:615710)
Association type: MENDELIAN
Gene: RFX6
Disease: Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome (ORPHA:293864)
Association type: UNKNOWN
Gene: AIMP1
Disease: LEUKODYSTROPHY, HYPOMYELINATING, 3 (OMIM:260600)
Association type: MENDELIAN
Gene: AIMP1
Disease: Pelizaeus-Merzbacher-like disease due to AIMP1 mutation (ORPHA:280293)
Association type: UNKNOWN
Gene: AIMP1
Disease: Autosomal recessive non-syndromic intellectual disability; AR-NSID; NS-ARID (ORPHA:88616)
Association type: UNKNOWN
Gene: ERCC6L2
Disease: BONE MARROW FAILURE SYNDROME 2 (OMIM:615715)
Association type: MENDELIAN
Gene: ERCC6L2
Disease: Pancytopenia-developmental delay syndrome; Trilineage bone marrow failure-developmental delay syndrome (ORPHA:401764)
Association type: UNKNOWN
Gene: ERCC6L2
Disease: Inherited acute myeloid leukemia; Familial AML; Inherited AML; Pure familial AML; Pure familial acute myeloid leukemia (ORPHA:319465)
Association type: UNKNOWN
Gene: PGAP3
Disease: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 4 (OMIM:615716)
Association type: MENDELIAN
Gene: PGAP3
Disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Association type: UNKNOWN
Gene: FGF20
Disease: RENAL HYPODYSPLASIA/APLASIA 2 (OMIM:615721)
Association type: MENDELIAN
Gene: FGF20
Disease: Renal agenesis, bilateral (ORPHA:1848)
Association type: UNKNOWN
Gene: HFM1
Disease: PREMATURE OVARIAN FAILURE 9 (OMIM:615724)
Association type: MENDELIAN
Gene: KRT6B
Disease: PACHYONYCHIA CONGENITA 4 (OMIM:615728)
Association type: MENDELIAN
Gene: KRT6B
Disease: PACHYONYCHIA CONGENITA 2 (OMIM:167210)
Association type: MENDELIAN
Gene: KRT6B
Disease: Pachyonychia congenita; PC (ORPHA:2309)
Association type: UNKNOWN
Gene: ATIC
Disease: AICA-RIBOSURIA DUE TO ATIC DEFICIENCY (OMIM:608688)
Association type: MENDELIAN
Gene: ATIC
Disease: AICA-ribosiduria; 5-amino-4-imidazole carboxamide ribosiduria; AICA-ribosiduria due to ATIC deficiency; AICAR transformylase/IMP cyclohydrolase deficiency; ATIC deficiency (ORPHA:250977)
Association type: UNKNOWN
Gene: KRT6A
Disease: PACHYONYCHIA CONGENITA 3 (OMIM:615726)
Association type: MENDELIAN
Gene: KRT6A
Disease: PACHYONYCHIA CONGENITA 1 (OMIM:167200)
Association type: MENDELIAN
Gene: KRT6A
Disease: Pachyonychia congenita; PC (ORPHA:2309)
Association type: UNKNOWN
Gene: GLYR1
Disease: TETRALOGY OF FALLOT (OMIM:187500)
Association type: MENDELIAN
Gene: GLIS1
Disease: TETRALOGY OF FALLOT (OMIM:187500)
Association type: MENDELIAN
Gene: TAB2
Disease: TETRALOGY OF FALLOT (OMIM:187500)
Association type: MENDELIAN
Gene: TAB2
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: TAB2
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: TAB2
Disease: CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 2 (OMIM:614980)
Association type: MENDELIAN
Gene: TAB2
Disease: 6q25.1 microdeletion syndrome (ORPHA:664404)
Association type: UNKNOWN
Gene: TAB2
Disease: Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome due to TAB2 mutation (ORPHA:664401)
Association type: UNKNOWN
Gene: SOX7
Disease: TETRALOGY OF FALLOT (OMIM:187500)
Association type: MENDELIAN
Gene: PKD1L1
Disease: TETRALOGY OF FALLOT (OMIM:187500)
Association type: MENDELIAN
Gene: PKD1L1
Disease: HETEROTAXY, VISCERAL, 8, AUTOSOMAL (OMIM:617205)
Association type: MENDELIAN