TaoMedAI/RareMedData huggingface dataset:
Gene: GRHL3
Disease: Cleft velum; Cleft soft palate; Cleft velum palatinum (ORPHA:99772)
Association type: UNKNOWN
Gene: SUZ12
Disease: IMAGAWA-MATSUMOTO SYNDROME (OMIM:618786)
Association type: MENDELIAN
Gene: SUZ12
Disease: Endometrial stromal sarcoma; Stromal sarcoma of the corpus uteri (ORPHA:213711)
Association type: UNKNOWN
Gene: SUZ12
Disease: Imagawa-Matsumoto syndrome; SUZ12-related overgrowth syndrome (ORPHA:659463)
Association type: UNKNOWN
Gene: SUZ12
Disease: Weaver syndrome; EZH2-related overgrowth syndrome; Syndrome d'hypercroissance associé à EZH2 (ORPHA:3447)
Association type: UNKNOWN
Gene: NEK10
Disease: CILIARY DYSKINESIA, PRIMARY, 44 (OMIM:618781)
Association type: MENDELIAN
Gene: NEK10
Disease: Primary ciliary dyskinesia; PCD (ORPHA:244)
Association type: UNKNOWN
Gene: PKHD1
Disease: POLYCYSTIC KIDNEY DISEASE 4 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE (OMIM:263200)
Association type: MENDELIAN
Gene: PKHD1
Disease: Caroli disease (ORPHA:53035)
Association type: UNKNOWN
Gene: PKHD1
Disease: Autosomal recessive polycystic kidney disease; AR-PKD (ORPHA:731)
Association type: UNKNOWN
Gene: OTUD6B
Disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES (OMIM:617452)
Association type: MENDELIAN
Gene: OTUD6B
Disease: Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome (ORPHA:505237)
Association type: UNKNOWN
Gene: CWF19L1
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 17 (OMIM:616127)
Association type: MENDELIAN
Gene: CWF19L1
Disease: Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency; SCAR17; Spinocerebellar ataxia autosomal recessive type 17 (ORPHA:453521)
Association type: UNKNOWN
Gene: ISG15
Disease: IMMUNODEFICIENCY 38 WITH BASAL GANGLIA CALCIFICATION (OMIM:616126)
Association type: MENDELIAN
Gene: ISG15
Disease: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency; MSMD due to complete ISG15 deficiency (ORPHA:319563)
Association type: UNKNOWN
Gene: PLS1
Disease: DEAFNESS, AUTOSOMAL DOMINANT 76 (OMIM:618787)
Association type: MENDELIAN
Gene: PLS1
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: C1R
Disease: EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 1 (OMIM:130080)
Association type: MENDELIAN
Gene: C1R
Disease: Autosomal systemic lupus erythematosus; Autosomal SLE; Familial SLE; Familial systemic lupus erythematosus (ORPHA:300345)
Association type: UNKNOWN
Gene: C1R
Disease: Periodontal Ehlers-Danlos syndrome; EDS VIII; Ehlers-Danlos syndrome type 8; Ehlers-Danlos syndrome, periodontitis type; Periodontal EDS; pEDS (ORPHA:75392)
Association type: UNKNOWN
Gene: C1R
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: LACC1
Disease: JUVENILE ARTHRITIS (OMIM:618795)
Association type: MENDELIAN
Gene: LACC1
Disease: Systemic-onset juvenile idiopathic arthritis; Still disease; Systemic-onset JIA (ORPHA:85414)
Association type: UNKNOWN
Gene: RALGAPA1
Disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION (OMIM:618797)
Association type: MENDELIAN
Gene: DACT1
Disease: TOWNES-BROCKS SYNDROME 2 (OMIM:617466)
Association type: MENDELIAN
Gene: DACT1
Disease: Craniorachischisis (ORPHA:63260)
Association type: UNKNOWN
Gene: DACT1
Disease: Townes-Brocks syndrome; Imperforate anus-hand, foot and ear anomalies syndrome; REAR syndrome; Renal-ear-anal-radial syndrome; Sensorineural deafness with imperforate anus and hypoplastic thumbs; Sensorineural hearing loss with imperforate anus and hypoplastic thumbs; TBS; Townes syndrome (ORPHA:857)
Association type: UNKNOWN
Gene: DACT1
Disease: Occipital encephalocele (ORPHA:268823)
Association type: UNKNOWN
Gene: UGDH
Disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 84 (OMIM:618792)
Association type: MENDELIAN
Gene: DLG4
Disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 62 (OMIM:618793)
Association type: MENDELIAN
Gene: DLG4
Disease: Non-specific syndromic intellectual disability; Complex neurodevelopmental disorder (ORPHA:528084)
Association type: UNKNOWN
Gene: LGI4
Disease: ARTHROGRYPOSIS MULTIPLEX CONGENITA 1, NEUROGENIC, WITH MYELIN DEFECT (OMIM:617468)
Association type: MENDELIAN
Gene: LGI4
Disease: Hypomyelination neuropathy-arthrogryposis syndrome (ORPHA:2680)
Association type: UNKNOWN
Gene: TET3
Disease: BECK-FAHRNER SYNDROME (OMIM:618798)
Association type: MENDELIAN
Gene: TET3
Disease: Intellectual disability-facial dysmorphism-joint hypermobility-hearing loss syndrome; BEFAHRS; Beck-Fahrner syndrome; Intellectual disability-facial dysmorphism-joint hypermobility-deafness syndrome; TET3 deficiency; TET3-related Beck-Fahrner syndrome (ORPHA:684216)
Association type: UNKNOWN
Gene: RARS1
Disease: LEUKODYSTROPHY, HYPOMYELINATING, 9 (OMIM:616140)
Association type: MENDELIAN
Gene: RARS1
Disease: RARS-related autosomal recessive hypomyelinating leukodystrophy (ORPHA:438114)
Association type: UNKNOWN
Gene: SMARCD2
Disease: SPECIFIC GRANULE DEFICIENCY 2 (OMIM:617475)
Association type: MENDELIAN
Gene: SMARCD2
Disease: Recurrent infections due to specific granule deficiency; Neutrophil-specific granule deficiency (ORPHA:169142)
Association type: UNKNOWN
Gene: SLC22A4
Disease: RHEUMATOID ARTHRITIS (OMIM:180300)
Association type: POLYGENIC
Gene: CIITA
Disease: RHEUMATOID ARTHRITIS (OMIM:180300)
Association type: POLYGENIC
Gene: CIITA
Disease: BARE LYMPHOCYTE SYNDROME, TYPE II (OMIM:209920)
Association type: MENDELIAN
Gene: CIITA
Disease: Immunodeficiency by defective expression of MHC class II; Bare lymphocyte syndrome type 2; MHC class II deficiency (ORPHA:572)
Association type: UNKNOWN
Gene: CD244
Disease: RHEUMATOID ARTHRITIS (OMIM:180300)
Association type: POLYGENIC
Gene: NFKBIL1
Disease: RHEUMATOID ARTHRITIS (OMIM:180300)
Association type: POLYGENIC
Gene: MCPH1
Disease: MICROCEPHALY 1, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:251200)
Association type: MENDELIAN
Gene: MCPH1
Disease: Autosomal recessive primary microcephaly; MCPH; Microcephalia vera; Microcephaly vera; True microcephaly (ORPHA:2512)
Association type: UNKNOWN
Gene: PRUNE1
Disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND VARIABLE BRAIN ANOMALIES (OMIM:617481)
Association type: MENDELIAN
Gene: PRUNE1
Disease: PRUNE1-related neurological syndrome (ORPHA:544469)
Association type: UNKNOWN
Gene: PURA
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 31 (OMIM:616158)
Association type: MENDELIAN
Gene: PURA
Disease: PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation (ORPHA:438216)
Association type: UNKNOWN
Gene: PURA
Disease: Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion; 5q31.3 microdeletion syndrome; Del(5)(q31.3); Monosomy 5q31.3 (ORPHA:314655)
Association type: UNKNOWN
Gene: ALAS2
Disease: ANEMIA, SIDEROBLASTIC, 1 (OMIM:300751)
Association type: MENDELIAN
Gene: ALAS2
Disease: PROTOPORPHYRIA, ERYTHROPOIETIC, X-LINKED (OMIM:300752)
Association type: MENDELIAN
Gene: ALAS2
Disease: X-linked erythropoietic protoporphyria; X-linked dominant erythropoietic protoporphyria; X-linked dominant protoporphyria; XLDPP; XLPP (ORPHA:443197)
Association type: UNKNOWN
Gene: ALAS2
Disease: X-linked sideroblastic anemia; XLSA (ORPHA:75563)
Association type: UNKNOWN
Gene: MAMLD1
Disease: HYPOSPADIAS 2, X-LINKED (OMIM:300758)
Association type: MENDELIAN
Gene: MAMLD1
Disease: X-linked myotubular myopathy-abnormal genitalia syndrome; Xq28 contiguous gene deletion syndrome (ORPHA:456328)
Association type: UNKNOWN
Gene: MAMLD1
Disease: Non-syndromic posterior hypospadias; Hypospadias, severe form; Perineal, scrotal or penoscrotal hypospadias (ORPHA:95706)
Association type: UNKNOWN
Gene: LMOD3
Disease: NEMALINE MYOPATHY 10 (OMIM:616165)
Association type: MENDELIAN
Gene: LMOD3
Disease: Typical nemaline myopathy (ORPHA:171436)
Association type: UNKNOWN
Gene: LMOD3
Disease: Severe congenital nemaline myopathy (ORPHA:171430)
Association type: UNKNOWN
Gene: HGD
Disease: ALKAPTONURIA (OMIM:203500)
Association type: MENDELIAN
Gene: HGD
Disease: Alkaptonuria; Hereditary ochronosis; Homogentisic acid oxidase deficiency (ORPHA:56)
Association type: UNKNOWN
Gene: VANGL2
Disease: NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO (OMIM:182940)
Association type: MENDELIAN
Gene: VANGL2
Disease: Isolated exencephaly (ORPHA:563612)
Association type: UNKNOWN
Gene: VANGL2
Disease: Isolated anencephaly (ORPHA:563609)
Association type: UNKNOWN
Gene: STX1B
Disease: GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 9 (OMIM:616172)
Association type: MENDELIAN
Gene: STX1B
Disease: Genetic epilepsy with febrile seizure plus; GEFS+; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Association type: UNKNOWN
Gene: PRKACG
Disease: BLEEDING DISORDER, PLATELET-TYPE, 19 (OMIM:616176)
Association type: MENDELIAN
Gene: PRKACG
Disease: Severe autosomal recessive macrothrombocytopenia (ORPHA:438207)
Association type: UNKNOWN
Gene: TGM6
Disease: SPINOCEREBELLAR ATAXIA 35 (OMIM:613908)
Association type: MENDELIAN
Gene: TGM6
Disease: Spinocerebellar ataxia type 35; SCA35 (ORPHA:276193)
Association type: UNKNOWN
Gene: TGM6
Disease: Inherited acute myeloid leukemia; Familial AML; Inherited AML; Pure familial AML; Pure familial acute myeloid leukemia (ORPHA:319465)
Association type: UNKNOWN
Gene: FXYD2
Disease: HYPOMAGNESEMIA 2, RENAL (OMIM:154020)
Association type: MENDELIAN
Gene: FXYD2
Disease: Autosomal dominant primary hypomagnesemia with hypocalciuria; HOMG2; Isolated autosomal dominant hypomagnesemia; Isolated renal magnesium wasting; Renal hypomagnesemia type 2 (ORPHA:34528)
Association type: UNKNOWN
Gene: KCNC1
Disease: EPILEPSY, PROGRESSIVE MYOCLONIC 7 (OMIM:616187)
Association type: MENDELIAN
Gene: KCNC1
Disease: Progressive myoclonic epilepsy type 7; EPM7; MEAK; Myoclonus epilepsy and ataxia due to potassium channel mutation; PME type 7; Progressive myoclonic epilepsy due to KV3.1 deficiency; Progressive myoclonus epilepsy type 7 (ORPHA:435438)
Association type: UNKNOWN
Gene: CFD
Disease: COMPLEMENT FACTOR D DEFICIENCY (OMIM:613912)
Association type: MENDELIAN
Gene: CFD
Disease: Recurrent Neisseria infections due to factor D deficiency (ORPHA:169467)
Association type: UNKNOWN
Gene: FMN2
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 47 (OMIM:616193)
Association type: MENDELIAN
Gene: FMN2
Disease: Autosomal recessive non-syndromic intellectual disability; AR-NSID; NS-ARID (ORPHA:88616)
Association type: UNKNOWN
Gene: DNAJC3
Disease: ATAXIA, COMBINED CEREBELLAR AND PERIPHERAL, WITH HEARING LOSS AND DIABETES MELLITUS (OMIM:616192)
Association type: MENDELIAN
Gene: DNAJC3
Disease: Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome; Combined cerebellar and peripheral ataxia-deafness-diabetes mellitus syndrome; Combined cerebellar and peripheral ataxia-hearing loss-diabetes mellitus syndrome (ORPHA:445062)
Association type: UNKNOWN
Gene: GYG1
Disease: POLYGLUCOSAN BODY MYOPATHY 2 (OMIM:616199)
Association type: MENDELIAN
Gene: GYG1
Disease: GLYCOGEN STORAGE DISEASE XV (OMIM:613507)
Association type: MENDELIAN
Gene: GYG1
Disease: Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency; GSD type 15; GSD type XV; GSD with severe cardiomyopathy due to glycogenin deficiency; Glycogen storage disease type 15; Glycogen storage disease type XV; Glycogenosis type 15; Glycogenosis type XV; Glycogenosis with severe cardiomyopathy due to glycogenin deficiency (ORPHA:263297)
Association type: UNKNOWN
Gene: GYG1
Disease: Polyglucosan body myopathy type 2 (ORPHA:456369)
Association type: UNKNOWN
Gene: GTPBP3
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23 (OMIM:616198)
Association type: MENDELIAN
Gene: GTPBP3
Disease: Combined oxidative phosphorylation defect type 23; COXPD23 (ORPHA:444013)
Association type: UNKNOWN
Gene: USP8
Disease: PITUITARY ADENOMA 4, ACTH-SECRETING (OMIM:219090)
Association type: MENDELIAN
Gene: USP8
Disease: Autosomal recessive spastic paraplegia type 59; SPG59 (ORPHA:401795)
Association type: UNKNOWN
Gene: USP8
Disease: Cushing disease; Corticotroph pituitary adenoma; Pituitary corticotroph micro-adenoma; Pituitary-dependent Cushing syndrome (ORPHA:96253)
Association type: UNKNOWN
Gene: SALL2
Disease: COLOBOMA, OCULAR, AUTOSOMAL RECESSIVE (OMIM:216820)
Association type: MENDELIAN
Gene: SALL2
Disease: Precursor T-cell acute lymphoblastic leukemia; Precursor T-cell acute lymphoblastic leukemia/lymphoma; Precursor T-cell acute lymphocytic leukemia; Precursor T-cell acute lymphocytic leukemia/lymphoma; T-ALL (ORPHA:99861)
Association type: UNKNOWN
Gene: SALL2
Disease: Coloboma of optic disc; Coloboma of optic papilla (ORPHA:98947)
Association type: UNKNOWN
Gene: SALL2
Disease: Coloboma of eye lens (ORPHA:98943)
Association type: UNKNOWN
Gene: SALL2
Disease: Coloboma of iris (ORPHA:98944)
Association type: UNKNOWN
Gene: SALL2
Disease: Coloboma of macula (ORPHA:98945)
Association type: UNKNOWN
Gene: SALL2
Disease: Coloboma of eyelid (ORPHA:98946)
Association type: UNKNOWN
Gene: SALL2
Disease: Coloboma of choroid and retina (ORPHA:98942)
Association type: UNKNOWN
Gene: HEPACAM
Disease: MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2A (OMIM:613925)
Association type: MENDELIAN
Gene: HEPACAM
Disease: MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2B, REMITTING, WITH OR WITHOUT MENTAL RETARDATION (OMIM:613926)
Association type: MENDELIAN
Gene: HEPACAM
Disease: MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 1 (OMIM:604004)
Association type: MENDELIAN
Gene: HEPACAM
Disease: Macrocephaly-intellectual disability-autism syndrome (ORPHA:210548)
Association type: UNKNOWN
Gene: HEPACAM
Disease: Megalencephalic leukoencephalopathy with subcortical cysts; MLC; Megalencephalic leukodystrophy; Megalencephaly-cystic leukodystrophy syndrome; Vacuolating megalencephalic leukoencephalopathy with subcortical cysts; Van der Knaap syndrome (ORPHA:2478)
Association type: UNKNOWN
Gene: MC2R
Disease: GLUCOCORTICOID DEFICIENCY 1 (OMIM:202200)
Association type: MENDELIAN
Gene: MC2R
Disease: Familial glucocorticoid deficiency (ORPHA:361)
Association type: UNKNOWN
Gene: TACSTD2
Disease: CORNEAL DYSTROPHY, GELATINOUS DROP-LIKE (OMIM:204870)
Association type: MENDELIAN
Gene: TACSTD2
Disease: Gelatinous drop-like corneal dystrophy; GDCD; Primary familial amyloidosis of the cornea; Subepithelial amyloidosis of the cornea (ORPHA:98957)
Association type: UNKNOWN
Gene: SMO
Disease: PALLISTER-HALL-LIKE SYNDROME (OMIM:241800)
Association type: MENDELIAN
Gene: SMO
Disease: BASAL CELL CARCINOMA, SUSCEPTIBILITY TO, 1 (OMIM:605462)
Association type: MENDELIAN
Gene: SMO
Disease: CURRY-JONES SYNDROME (OMIM:601707)
Association type: MENDELIAN
Gene: SMO
Disease: Hirschsprung disease; Aganglionic megacolon; Colonic aganglionosis; Congenital intestinal aganglionosis; HSCR (ORPHA:388)
Association type: UNKNOWN
Gene: SMO
Disease: Curry-Jones syndrome; Corpus callosum agenesis-polysyndactyly syndrome (ORPHA:1553)
Association type: UNKNOWN
Gene: SMO
Disease: Meningioma (ORPHA:2495)
Association type: UNKNOWN
Gene: ACACA
Disease: ACETYL-CoA CARBOXYLASE DEFICIENCY (OMIM:613933)
Association type: MENDELIAN
Gene: ANK1
Disease: SPHEROCYTOSIS, TYPE 1 (OMIM:182900)
Association type: MENDELIAN
Gene: ANK1
Disease: Hereditary spherocytosis; Minkowski-Chauffard disease (ORPHA:822)
Association type: UNKNOWN
Gene: ANK1
Disease: 8p11.2 deletion syndrome; Del(8)(p11.2); Monosomy 8p11.2 (ORPHA:251066)
Association type: UNKNOWN
Gene: LIPN
Disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 8 (OMIM:613943)
Association type: MENDELIAN
Gene: LIPN
Disease: Lamellar ichthyosis; LI (ORPHA:313)
Association type: UNKNOWN
Gene: GJA3
Disease: CATARACT 14, MULTIPLE TYPES (OMIM:601885)
Association type: MENDELIAN
Gene: GJA3
Disease: Early-onset nuclear cataract (ORPHA:98991)
Association type: UNKNOWN
Gene: GJA3
Disease: Early-onset posterior polar cataract (ORPHA:98993)
Association type: UNKNOWN
Gene: GJA3
Disease: Pulverulent cataract; Coppock-like cataract; Dusty cataract (ORPHA:98984)
Association type: UNKNOWN
Gene: COL5A2
Disease: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2 (OMIM:130010)
Association type: MENDELIAN
Gene: COL5A2
Disease: Classical Ehlers-Danlos syndrome; Classical EDS; cEDS (ORPHA:287)
Association type: UNKNOWN
Gene: SYNGAP1
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 5 (OMIM:612621)
Association type: MENDELIAN
Gene: SYNGAP1
Disease: SYNGAP1-related developmental and epileptic encephalopathy; SYNGAP1-related DEE (ORPHA:544254)
Association type: UNKNOWN
Gene: SYNGAP1
Disease: Non-specific early-onset epileptic encephalopathy; Non-specific EOEE; Undetermined EOEE; Undetermined early-onset epileptic encephalopathy (ORPHA:442835)
Association type: UNKNOWN
Gene: SYNGAP1
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: SLX4
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP P (OMIM:613951)
Association type: MENDELIAN
Gene: SLX4
Disease: Fanconi anemia; Fanconi pancytopenia (ORPHA:84)
Association type: UNKNOWN
Gene: IL17RA
Disease: IMMUNODEFICIENCY 51 (OMIM:613953)
Association type: MENDELIAN
Gene: IL17RA
Disease: Chronic mucocutaneous candidiasis; CMC (ORPHA:1334)
Association type: UNKNOWN
Gene: IL17F
Disease: CANDIDIASIS, FAMILIAL, 6 (OMIM:613956)
Association type: MENDELIAN
Gene: IL17F
Disease: Chronic mucocutaneous candidiasis; CMC (ORPHA:1334)
Association type: UNKNOWN
Gene: IL31RA
Disease: AMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS, 2 (OMIM:613955)
Association type: MENDELIAN
Gene: IL31RA
Disease: Familial primary localized cutaneous amyloidosis; FPLCA (ORPHA:353220)
Association type: UNKNOWN
Gene: DPY19L2
Disease: SPERMATOGENIC FAILURE 9 (OMIM:613958)
Association type: MENDELIAN
Gene: DPY19L2
Disease: Male infertility due to globozoospermia; Male infertility due to round-headed spermatozoa; Round-headed sperm syndrome (ORPHA:171709)
Association type: UNKNOWN
Gene: NCF4
Disease: GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 3 (OMIM:613960)
Association type: MENDELIAN
Gene: NCF4
Disease: Chronic granulomatous disease; CGD; Chronic septic granulomatosis (ORPHA:379)
Association type: UNKNOWN
Gene: AK1
Disease: ADENYLATE KINASE DEFICIENCY, HEMOLYTIC ANEMIA DUE TO (OMIM:612631)
Association type: MENDELIAN
Gene: AK1
Disease: Hemolytic anemia due to adenylate kinase deficiency (ORPHA:86817)
Association type: UNKNOWN
Gene: SOD2
Disease: MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 6 (OMIM:612634)
Association type: POLYGENIC
Gene: KIF1C
Disease: SPASTIC ATAXIA 2, AUTOSOMAL RECESSIVE (OMIM:611302)
Association type: MENDELIAN
Gene: KIF1C
Disease: Autosomal spastic paraplegia type 58; Autosomal spastic ataxia type 2; SPAX2; SPG58 (ORPHA:397946)
Association type: UNKNOWN
Gene: PON1
Disease: MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 5 (OMIM:612633)
Association type: POLYGENIC
Gene: PON1
Disease: Amyotrophic lateral sclerosis; ALS; Charcot disease; Lou Gehrig disease (ORPHA:803)
Association type: UNKNOWN
Gene: PSMB8
Disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1 (OMIM:256040)
Association type: MENDELIAN
Gene: PSMB8
Disease: Proteasome-associated autoinflammatory syndrome; ALDD syndrome; Autoinflammation-lipodystrophy-dermatosis syndrome; PRAAS; Proteasome disability syndrome (ORPHA:324977)
Association type: UNKNOWN
Gene: SNCAIP
Disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Association type: MENDELIAN
Gene: NR4A2
Disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Association type: MENDELIAN
Gene: NR4A2
Disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND EARLY-ONSET DOPA-RESPONSIVE DYSTONIA-PARKINSONISM (OMIM:619911)
Association type: MENDELIAN
Gene: NR4A2
Disease: Autosomal dominant dopa-responsive dystonia; Autosomal dominant Segawa syndrome; DYT5a; GTPCH1-deficient DRD; GTPCH1-deficient dopa-responsive dystonia; HPD with marked diurnal fluctuation; Hereditary progressive dystonia with marked diurnal fluctuation (ORPHA:98808)
Association type: UNKNOWN
Gene: NR4A2
Disease: Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to a NR4A2 point mutation; NR4A2-related neurodevelopmental syndrome (ORPHA:660012)
Association type: UNKNOWN
Gene: NR4A2
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: FUT6
Disease: FUCOSYLTRANSFERASE 6 DEFICIENCY (OMIM:613852)
Association type: MENDELIAN
Gene: RPL35A
Disease: DIAMOND-BLACKFAN ANEMIA 5 (OMIM:612528)
Association type: MENDELIAN
Gene: RPL35A
Disease: Diamond-Blackfan anemia; Congenital PRCA; Congenital pure red cell aplasia; Diamond-Blackfan anemia syndrome (ORPHA:124)
Association type: UNKNOWN
Gene: RPS17
Disease: DIAMOND-BLACKFAN ANEMIA 4 (OMIM:612527)
Association type: MENDELIAN
Gene: RPS17
Disease: Diamond-Blackfan anemia; Congenital PRCA; Congenital pure red cell aplasia; Diamond-Blackfan anemia syndrome (ORPHA:124)
Association type: UNKNOWN
Gene: FRAS1
Disease: FRASER SYNDROME 1 (OMIM:219000)
Association type: MENDELIAN
Gene: FRAS1
Disease: Fraser syndrome; Cryptophthalmos-syndactyly syndrome (ORPHA:2052)
Association type: UNKNOWN
Gene: FRAS1
Disease: Renal agenesis, unilateral (ORPHA:93100)
Association type: UNKNOWN
Gene: MMP20
Disease: AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA2 (OMIM:612529)
Association type: MENDELIAN
Gene: MMP20
Disease: Hypomaturation amelogenesis imperfecta; Amelogenesis imperfecta type 2 (ORPHA:100033)
Association type: UNKNOWN
Gene: FCN3
Disease: FICOLIN 3 DEFICIENCY (OMIM:613860)
Association type: MENDELIAN
Gene: FCN3
Disease: Immunodeficiency due to ficolin3 deficiency (ORPHA:331190)
Association type: UNKNOWN
Gene: SLC26A5
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 61 (OMIM:613865)
Association type: MENDELIAN
Gene: SLC26A5
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: CNTN1
Disease: MYOPATHY, CONGENITAL, COMPTON-NORTH (OMIM:612540)
Association type: MENDELIAN
Gene: CNTN1
Disease: Congenital lethal myopathy, Compton-North type (ORPHA:210163)
Association type: UNKNOWN
Gene: G6PC3
Disease: NEUTROPENIA, SEVERE CONGENITAL, 4, AUTOSOMAL RECESSIVE (OMIM:612541)
Association type: MENDELIAN
Gene: G6PC3
Disease: Severe congenital neutropenia due to G6PC3 deficiency; SCN due to G6PC3 deficiency; SCN4; Severe congenital neutropenia due to glucose-6-phosphatase catalytic subunit 3 deficiency; Severe congenital neutropenia type 4; Severe congenital neutropenia-pulmonary hypertension-superficial venous angiectasis syndrome (ORPHA:331176)
Association type: UNKNOWN
Gene: PLIN1
Disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 4 (OMIM:613877)
Association type: MENDELIAN
Gene: PLIN1
Disease: PLIN1-related familial partial lipodystrophy; FPLD4; PLIN1-related FPLD (ORPHA:280356)
Association type: UNKNOWN
Gene: TDO2
Disease: HYPERTRYPTOPHANEMIA (OMIM:600627)
Association type: MENDELIAN