TaoMedAI/RareMedData huggingface dataset:
Gene: FGF13
Disease: Genetic epilepsy with febrile seizure plus; GEFS+; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Association type: UNKNOWN
Gene: CFAP47
Disease: SPERMATOGENIC FAILURE, X-LINKED, 3 (OMIM:301059)
Association type: MENDELIAN
Gene: CFAP47
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: F9
Disease: WARFARIN SENSITIVITY, X-LINKED (OMIM:301052)
Association type: POLYGENIC
Gene: F9
Disease: HEMOPHILIA B (OMIM:306900)
Association type: MENDELIAN
Gene: F9
Disease: THROMBOPHILIA, X-LINKED, DUE TO FACTOR IX DEFECT (OMIM:300807)
Association type: MENDELIAN
Gene: F9
Disease: Bleeding disorder in hemophilia B carriers (ORPHA:177929)
Association type: UNKNOWN
Gene: F9
Disease: Mild hemophilia B; Mild congenital F9 deficiency; Mild congenital factor IX deficiency (ORPHA:169799)
Association type: UNKNOWN
Gene: F9
Disease: Severe hemophilia B; Severe congenital F9 deficiency; Severe congenital factor IX deficiency (ORPHA:169793)
Association type: UNKNOWN
Gene: F9
Disease: Moderate hemophilia B; Moderate congenital F9 deficiency; Moderate congenital factor IX deficiency (ORPHA:169796)
Association type: UNKNOWN
Gene: UBA1
Disease: VEXAS SYNDROME (OMIM:301054)
Association type: MENDELIAN
Gene: UBA1
Disease: SPINAL MUSCULAR ATROPHY, X-LINKED 2 (OMIM:301830)
Association type: MENDELIAN
Gene: UBA1
Disease: VEXAS syndrome (ORPHA:596753)
Association type: UNKNOWN
Gene: UBA1
Disease: Infantile-onset X-linked spinal muscular atrophy; SMAX2; Spinal muscular atrophy with arthrogryposis; X-linked distal arthrogryposis multiplex congenita; X-linked spinal muscular atrophy type 2 (ORPHA:1145)
Association type: UNKNOWN
Gene: COQ7
Disease: COENZYME Q10 DEFICIENCY, PRIMARY, 8 (OMIM:616733)
Association type: MENDELIAN
Gene: COQ7
Disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL RECESSIVE 9 (OMIM:620402)
Association type: MENDELIAN
Gene: COQ7
Disease: COQ7-related distal hereditary motor neuropathy (ORPHA:658778)
Association type: UNKNOWN
Gene: COQ7
Disease: Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome (ORPHA:319678)
Association type: UNKNOWN
Gene: CORO1A
Disease: IMMUNODEFICIENCY 8 (OMIM:615401)
Association type: MENDELIAN
Gene: CORO1A
Disease: Severe combined immunodeficiency due to CORO1A deficiency; SCID due to CORO1A deficiency; SCID due to coronin-1A deficiency; Severe combined immunodeficiency due to coronin-1A deficiency (ORPHA:228003)
Association type: UNKNOWN
Gene: RTN4IP1
Disease: OPTIC ATROPHY 10 WITH OR WITHOUT ATAXIA, MENTAL RETARDATION, AND SEIZURES (OMIM:616732)
Association type: MENDELIAN
Gene: RTN4IP1
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: RTN4IP1
Disease: Autosomal recessive isolated optic atrophy; Autosomal recessive non-syndromic optic atrophy (ORPHA:98676)
Association type: UNKNOWN
Gene: NUP107
Disease: NEPHROTIC SYNDROME, TYPE 11 (OMIM:616730)
Association type: MENDELIAN
Gene: NUP107
Disease: GALLOWAY-MOWAT SYNDROME 7 (OMIM:618348)
Association type: MENDELIAN
Gene: NUP107
Disease: OVARIAN DYSGENESIS 6 (OMIM:618078)
Association type: MENDELIAN
Gene: NUP107
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: NUP107
Disease: Hereditary steroid-resistant nephrotic syndrome; Familial idiopathic steroid-resistant nephrotic syndrome; Genetic FSGS; Genetic SRNS; Hereditary SRNS; Isolated SRNS; Monogenic SRNS (ORPHA:656)
Association type: UNKNOWN
Gene: NUP107
Disease: Galloway-Mowat syndrome; Galloway syndrome; Microcephaly-hiatus hernia-nephrotic syndrome; Nephrosis-neuronal dysmigration syndrome (ORPHA:2065)
Association type: UNKNOWN
Gene: CNTN2
Disease: EPILEPSY, FAMILIAL ADULT MYOCLONIC, 5 (OMIM:615400)
Association type: MENDELIAN
Gene: CNTN2
Disease: Benign adult familial myoclonic epilepsy; ADCME; Autosomal dominant cortical myoclonus and epilepsy; BAFME; Benign adult familial myoclonus epilepsy; FAME; FCMTE; Familial adult myoclonic epilepsy; Familial cortical myoclonic tremor and epilepsy (ORPHA:86814)
Association type: UNKNOWN
Gene: TENM4
Disease: TREMOR, HEREDITARY ESSENTIAL, 5 (OMIM:616736)
Association type: MENDELIAN
Gene: MAPRE2
Disease: SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 2 (OMIM:616734)
Association type: MENDELIAN
Gene: MAPRE2
Disease: Multiple benign circumferential skin creases on limbs; CCSF; Circumferential skin creases, Kunze type; Congenital circumferential skin folds; Kunze-Riehm syndrome (ORPHA:2505)
Association type: UNKNOWN
Gene: COL4A5
Disease: ALPORT SYNDROME 1, X-LINKED (OMIM:301050)
Association type: MENDELIAN
Gene: COL4A5
Disease: X-linked Alport syndrome-diffuse leiomyomatosis; Xq22.3 microdeletion syndrome (ORPHA:1018)
Association type: UNKNOWN
Gene: COL4A5
Disease: Digenic Alport syndrome (ORPHA:653722)
Association type: UNKNOWN
Gene: COL4A5
Disease: X-linked Alport syndrome (ORPHA:88917)
Association type: UNKNOWN
Gene: MECOM
Disease: RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2 (OMIM:616738)
Association type: MENDELIAN
Gene: MECOM
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: MECOM
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: MECOM
Disease: Acute myeloid leukemia with inv(3)(q21q26.2) or t(3;3)(q21;q26.2); AML with inv(3)(q21q26.2) or t(3;3)(q21;q26.2) (ORPHA:402020)
Association type: UNKNOWN
Gene: MECOM
Disease: Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome; ATRUS syndrome (ORPHA:71289)
Association type: UNKNOWN
Gene: TLR7
Disease: IMMUNODEFICIENCY 74, COVID19-RELATED, X-LINKED (OMIM:301051)
Association type: MENDELIAN
Gene: TLR7
Disease: SYSTEMIC LUPUS ERYTHEMATOSUS 17 (OMIM:301080)
Association type: MENDELIAN
Gene: TLR7
Disease: Systemic lupus erythematosus; Disseminated lupus erythematosus; SLE (ORPHA:536)
Association type: UNKNOWN
Gene: ATXN7
Disease: SPINOCEREBELLAR ATAXIA 7 (OMIM:164500)
Association type: MENDELIAN
Gene: ATXN7
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: ATXN7
Disease: Spinocerebellar ataxia type 7; Ataxia with pigmentary retinopathy; Cerebellar syndrome-pigmentary maculopathy syndrome; SCA7 (ORPHA:94147)
Association type: UNKNOWN
Gene: SLC9A7
Disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 108 (OMIM:301024)
Association type: MENDELIAN
Gene: SLC9A7
Disease: X-linked non-syndromic intellectual disability (ORPHA:777)
Association type: UNKNOWN
Gene: HS6ST2
Disease: PAGANINI-MIOZZO SYNDROME (OMIM:301025)
Association type: MENDELIAN
Gene: NDUFA1
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 12 (OMIM:301020)
Association type: MENDELIAN
Gene: NDUFA1
Disease: Isolated complex I deficiency; Isolated NADH-CoQ reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-ubiquinone reductase deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Association type: UNKNOWN
Gene: KRIT1
Disease: CEREBRAL CAVERNOUS MALFORMATIONS (OMIM:116860)
Association type: MENDELIAN
Gene: KRIT1
Disease: Familial cerebral cavernous malformation; Familial brain cavernous angioma; Familial cerebral cavernoma; Hereditary brain cavernous angioma; Hereditary cerebral cavernoma; Hereditary cerebral cavernous malformation (ORPHA:221061)
Association type: UNKNOWN
Gene: TFRC
Disease: IMMUNODEFICIENCY 46 (OMIM:616740)
Association type: MENDELIAN
Gene: TFRC
Disease: Combined immunodeficiency due to TFRC deficiency; CID due to TFRC deficiency; TFRC-related combined immunodeficiency (ORPHA:476113)
Association type: UNKNOWN
Gene: TBC1D8B
Disease: NEPHROTIC SYNDROME, TYPE 20 (OMIM:301028)
Association type: MENDELIAN
Gene: TBC1D8B
Disease: Hereditary steroid-resistant nephrotic syndrome; Familial idiopathic steroid-resistant nephrotic syndrome; Genetic FSGS; Genetic SRNS; Hereditary SRNS; Isolated SRNS; Monogenic SRNS (ORPHA:656)
Association type: UNKNOWN
Gene: BCORL1
Disease: SHUKLA-VERNON SYNDROME (OMIM:301029)
Association type: MENDELIAN
Gene: BCORL1
Disease: Non-specific syndromic intellectual disability; Complex neurodevelopmental disorder (ORPHA:528084)
Association type: UNKNOWN
Gene: TNFAIP3
Disease: AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE (OMIM:616744)
Association type: MENDELIAN
Gene: TNFAIP3
Disease: Early-onset autoinflammatory syndrome due to A20 haploinsufficiency; Early-onset AID due to HA20; Early-onset autoinflammatory disorder due to HA20; Early-onset autoinflammatory syndrome associated with TNFAIP3; HA20-related monogenic Behcet-like disease (ORPHA:674762)
Association type: UNKNOWN
Gene: TNFAIP3
Disease: Systemic lupus erythematosus; Disseminated lupus erythematosus; SLE (ORPHA:536)
Association type: UNKNOWN
Gene: TUBG1
Disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 4 (OMIM:615412)
Association type: MENDELIAN
Gene: TUBG1
Disease: 15q11.2 microdeletion syndrome; 15q11.2 BP1-BP2 microdeletion syndrome; Del(15)(q11.2); Monosomy 15q11.2 (ORPHA:261183)
Association type: UNKNOWN
Gene: NANOS1
Disease: SPERMATOGENIC FAILURE 12 (OMIM:615413)
Association type: MENDELIAN
Gene: NANOS1
Disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Association type: UNKNOWN
Gene: KIF2A
Disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 3 (OMIM:615411)
Association type: MENDELIAN
Gene: PHC1
Disease: MICROCEPHALY 11, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:615414)
Association type: MENDELIAN
Gene: PHC1
Disease: Autosomal recessive primary microcephaly; MCPH; Microcephalia vera; Microcephaly vera; True microcephaly (ORPHA:2512)
Association type: UNKNOWN
Gene: NEK8
Disease: RENAL-HEPATIC-PANCREATIC DYSPLASIA 2 (OMIM:615415)
Association type: MENDELIAN
Gene: NEK8
Disease: NEPHRONOPHTHISIS 9 (OMIM:613824)
Association type: MENDELIAN
Gene: NEK8
Disease:  (OMIM:620903)
Association type: MENDELIAN
Gene: NEK8
Disease: Renal-hepatic-pancreatic dysplasia; Ivemark II syndrome; Renohepaticopancreatic dysplasia (ORPHA:294415)
Association type: UNKNOWN
Gene: NEK8
Disease: Autosomal dominant polycystic kidney disease; ADPKD (ORPHA:730)
Association type: UNKNOWN
Gene: NEK8
Disease: Infantile nephronophthisis; Autosomal recessive infantile NPHP; Autosomal recessive infantile nephronophthisis (ORPHA:93591)
Association type: UNKNOWN
Gene: MMP21
Disease: HETEROTAXY, VISCERAL, 7, AUTOSOMAL (OMIM:616749)
Association type: MENDELIAN
Gene: MMP21
Disease: TETRALOGY OF FALLOT (OMIM:187500)
Association type: MENDELIAN
Gene: MMP21
Disease: Situs inversus totalis; Complete situs inversus; Complete situs inversus viscerum; Situs inversus (ORPHA:101063)
Association type: UNKNOWN
Gene: MMP21
Disease: Situs ambiguus; Incomplete situs inversus; Partial situs inversus; Situs ambiguous (ORPHA:157769)
Association type: UNKNOWN
Gene: IRS4
Disease: HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 9 (OMIM:301035)
Association type: MENDELIAN
Gene: MAGT1
Disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Icc (OMIM:301031)
Association type: MENDELIAN
Gene: MAGT1
Disease: IMMUNODEFICIENCY, X-LINKED, WITH MAGNESIUM DEFECT, EPSTEIN-BARR VIRUS INFECTION, AND NEOPLASIA (OMIM:300853)
Association type: MENDELIAN
Gene: MAGT1
Disease: XMEN; CID due to MAGT1 deficiency; Combined immunodeficiency due to MAGT1 deficiency; X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia (ORPHA:317476)
Association type: UNKNOWN
Gene: MSL3
Disease: BASILICATA-AKHTAR SYNDROME (OMIM:301032)
Association type: MENDELIAN
Gene: TBL1X
Disease: HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 8 (OMIM:301033)
Association type: MENDELIAN
Gene: PRIMPOL
Disease: MYOPIA 22, AUTOSOMAL DOMINANT (OMIM:615420)
Association type: MENDELIAN
Gene: PRIMPOL
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: NKAP
Disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, HACKMANN-DI DONATO TYPE (OMIM:301039)
Association type: MENDELIAN
Gene: NKAP
Disease:  (ORPHA:700325)
Association type: UNKNOWN
Gene: FUT1
Disease: BOMBAY PHENOTYPE (OMIM:616754)
Association type: MENDELIAN
Gene: FUT2
Disease: BOMBAY PHENOTYPE (OMIM:616754)
Association type: MENDELIAN
Gene: FUT2
Disease: VITAMIN B12 PLASMA LEVEL QUANTITATIVE TRAIT LOCUS 1 (OMIM:612542)
Association type: POLYGENIC
Gene: HNRNPA2B1
Disease: INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 2 (OMIM:615422)
Association type: MENDELIAN
Gene: HNRNPA2B1
Disease: OCULOPHARYNGEAL MUSCULAR DYSTROPHY 2 (OMIM:620460)
Association type: MENDELIAN
Gene: HNRNPA2B1
Disease: Inclusion body myopathy with Paget disease of bone and frontotemporal dementia; IBMPFD; Limb-girdle muscular dystrophy with Paget disease of bone; Pagetoid amyotrophic lateral sclerosis; Pagetoid neuroskeletal syndrome (ORPHA:52430)
Association type: UNKNOWN
Gene: DST
Disease: EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 2 (OMIM:615425)
Association type: MENDELIAN
Gene: DST
Disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI (OMIM:614653)
Association type: MENDELIAN
Gene: DST
Disease: Hereditary sensory and autonomic neuropathy type 6; Familial dysautonomia with contractures; HSAN6; Hereditary sensory and autonomic neuropathy type VI (ORPHA:314381)
Association type: UNKNOWN
Gene: DST
Disease: Epidermolysis bullosa simplex due to BP230 deficiency; DST-related epidermolysis bullosa simplex; EBS due to BP230 deficiency (ORPHA:412181)
Association type: UNKNOWN
Gene: HACE1
Disease: SPASTIC PARAPLEGIA AND PSYCHOMOTOR RETARDATION WITH OR WITHOUT SEIZURES (OMIM:616756)
Association type: MENDELIAN
Gene: HACE1
Disease: Neuroblastoma (ORPHA:635)
Association type: UNKNOWN
Gene: HACE1
Disease: Spastic paraplegia-severe developmental delay-epilepsy syndrome; SPPRS syndrome; Spastic paraplegia-psychomotor retardation-seizures syndrome (ORPHA:464282)
Association type: UNKNOWN
Gene: ELMOD3
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 88 (OMIM:615429)
Association type: MENDELIAN
Gene: ELMOD3
Disease: DEAFNESS, AUTOSOMAL DOMINANT 81 (OMIM:619500)
Association type: MENDELIAN
Gene: ELMOD3
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: SLC34A2
Disease: PULMONARY ALVEOLAR MICROLITHIASIS (OMIM:265100)
Association type: MENDELIAN
Gene: SLC34A2
Disease: Pulmonary alveolar microlithiasis (ORPHA:60025)
Association type: UNKNOWN
Gene: CYP21A2
Disease: ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY (OMIM:201910)
Association type: MENDELIAN
Gene: CYP21A2
Disease: Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form; Classic 21-OHD CAH, simple virilizing form (ORPHA:315311)
Association type: UNKNOWN
Gene: CYP21A2
Disease: Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form; Classic 21-OHD CAH, salt wasting form (ORPHA:315306)
Association type: UNKNOWN
Gene: WAS
Disease: WISKOTT-ALDRICH SYNDROME (OMIM:301000)
Association type: MENDELIAN
Gene: WAS
Disease: NEUTROPENIA, SEVERE CONGENITAL, X-LINKED (OMIM:300299)
Association type: MENDELIAN
Gene: WAS
Disease: THROMBOCYTOPENIA 1 (OMIM:313900)
Association type: MENDELIAN
Gene: WAS
Disease: X-linked severe congenital neutropenia (ORPHA:86788)
Association type: UNKNOWN
Gene: WAS
Disease: X-linked thrombocytopenia with normal platelets (ORPHA:852)
Association type: UNKNOWN
Gene: WAS
Disease: Wiskott-Aldrich syndrome; Eczema-thrombocytopenia-immunodeficiency syndrome; WAS (ORPHA:906)
Association type: UNKNOWN
Gene: LRPAP1
Disease: MYOPIA 23, AUTOSOMAL RECESSIVE (OMIM:615431)
Association type: MENDELIAN
Gene: LRPAP1
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: LRPAP1
Disease: Rare isolated myopia (ORPHA:98619)
Association type: UNKNOWN
Gene: LAGE3
Disease: GALLOWAY-MOWAT SYNDROME 2, X-LINKED (OMIM:301006)
Association type: MENDELIAN
Gene: LAGE3
Disease: Galloway-Mowat syndrome; Galloway syndrome; Microcephaly-hiatus hernia-nephrotic syndrome; Nephrosis-neuronal dysmigration syndrome (ORPHA:2065)
Association type: UNKNOWN
Gene: KRT25
Disease: WOOLLY HAIR, AUTOSOMAL RECESSIVE 3 (OMIM:616760)
Association type: MENDELIAN
Gene: KRT25
Disease: Woolly hair; Familial woolly hair syndrome; Familial wooly hair syndrome; Hereditary woolly hair syndrome; Hereditary wooly hair syndrome; Wooly hair (ORPHA:170)
Association type: UNKNOWN
Gene: CNKSR2
Disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, HOUGE TYPE (OMIM:301008)
Association type: MENDELIAN
Gene: CNKSR2
Disease: X-linked non-syndromic intellectual disability (ORPHA:777)
Association type: UNKNOWN
Gene: CNKSR2
Disease: Non-specific early-onset epileptic encephalopathy; Non-specific EOEE; Undetermined EOEE; Undetermined early-onset epileptic encephalopathy (ORPHA:442835)
Association type: UNKNOWN
Gene: ARL2BP
Disease: RETINITIS PIGMENTOSA 82 WITH OR WITHOUT SITUS INVERSUS (OMIM:615434)
Association type: MENDELIAN
Gene: ARL2BP
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: ARL2BP
Disease: Retinitis pigmentosa (ORPHA:791)
Association type: UNKNOWN
Gene: DYRK1A
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 7 (OMIM:614104)
Association type: MENDELIAN
Gene: DYRK1A
Disease: TETRALOGY OF FALLOT (OMIM:187500)
Association type: MENDELIAN
Gene: DYRK1A
Disease: Intellectual disability syndrome due to a DYRK1A point mutation; DYRK1A-related intellectual disability syndrome due to a point mutation (ORPHA:464311)
Association type: UNKNOWN
Gene: DYRK1A
Disease: DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion; 21q22.13q22.2 microdeletion syndrome; Del(21)(q22.13q22.2); Monosomy 21q22.13q22.2 (ORPHA:268261)
Association type: UNKNOWN
Gene: TM4SF20
Disease: SPECIFIC LANGUAGE IMPAIRMENT 5 (OMIM:615432)
Association type: POLYGENIC
Gene: CALR
Disease: MYELOFIBROSIS (OMIM:254450)
Association type: MENDELIAN
Gene: CALR
Disease: THROMBOCYTHEMIA 1 (OMIM:187950)
Association type: MENDELIAN
Gene: CALR
Disease: Essential thrombocythemia; ET; Essential thrombocytosis (ORPHA:3318)
Association type: UNKNOWN
Gene: CALR
Disease: Budd-Chiari syndrome; BCS (ORPHA:131)
Association type: UNKNOWN
Gene: CALR
Disease: Primary myelofibrosis; Agnogenic myeloid metaplasia; Idiopathic myelofibrosis; Myelofibrosis with myeloid metaplasia; Osteomyelofibrosis (ORPHA:824)
Association type: UNKNOWN
Gene: PLEKHG2
Disease: LEUKODYSTROPHY AND ACQUIRED MICROCEPHALY WITH OR WITHOUT DYSTONIA (OMIM:616763)
Association type: MENDELIAN
Gene: IGKC
Disease: IMMUNOGLOBULIN KAPPA LIGHT CHAIN DEFICIENCY (OMIM:614102)
Association type: MENDELIAN
Gene: IGKC
Disease: Recurrent infections associated with rare immunoglobulin isotypes deficiency; IgG subclass deficiency with IgA subclass deficiency; Isolated IgG subclass deficiency; Kappa-chain deficiency; Selective IgG subclass deficiency (ORPHA:183675)
Association type: UNKNOWN
Gene: LARS1
Disease: INFANTILE LIVER FAILURE SYNDROME 1 (OMIM:615438)
Association type: MENDELIAN
Gene: LARS1
Disease: Acute infantile liver failure-multisystemic involvement syndrome (ORPHA:370088)
Association type: UNKNOWN
Gene: PRKG1
Disease: AORTIC ANEURYSM, FAMILIAL THORACIC 8 (OMIM:615436)
Association type: MENDELIAN
Gene: PRKG1
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: ALDH6A1
Disease: METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY (OMIM:614105)
Association type: MENDELIAN
Gene: ALDH6A1
Disease: Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency; Developmental delay due to ALDH6A1 deficiency; Developmental delay due to MMSDH deficiency (ORPHA:289307)
Association type: UNKNOWN
Gene: SASH1
Disease: DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 1 (OMIM:127500)
Association type: MENDELIAN
Gene: SASH1
Disease: CANCER, ALOPECIA, PIGMENT DYSCRASIA, ONYCHODYSTROPHY, AND KERATODERMA (OMIM:618373)
Association type: MENDELIAN
Gene: SASH1
Disease: Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome (ORPHA:447961)
Association type: UNKNOWN
Gene: SASH1
Disease: Familial generalized lentiginosis; Familial lentigines profusa; Familial multiple lentigines syndrome without systemic involvement (ORPHA:231040)
Association type: UNKNOWN
Gene: STEEP1
Disease: MENTAL RETARDATION, X-LINKED 107 (OMIM:301013)
Association type: MENDELIAN
Gene: STEEP1
Disease: X-linked non-syndromic intellectual disability (ORPHA:777)
Association type: UNKNOWN
Gene: ATP11C
Disease: HEMOLYTIC ANEMIA, CONGENITAL, X-LINKED (OMIM:301015)
Association type: MENDELIAN
Gene: ARR3
Disease: MYOPIA 26, X-LINKED, FEMALE-LIMITED (OMIM:301010)
Association type: MENDELIAN
Gene: ARR3
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: PDHB
Disease: PYRUVATE DEHYDROGENASE E1-BETA DEFICIENCY (OMIM:614111)
Association type: MENDELIAN
Gene: PDHB
Disease: Pyruvate dehydrogenase E1-beta deficiency; PDHBD; Pyruvate dehydrogenase complex E1 component subunit beta deficiency (ORPHA:255138)
Association type: UNKNOWN
Gene: GPRASP2
Disease: DEAFNESS, X-LINKED 7 (OMIM:301018)
Association type: MENDELIAN
Gene: GPRASP2
Disease: X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome (ORPHA:500188)
Association type: UNKNOWN
Gene: ELAC2
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 17 (OMIM:615440)
Association type: MENDELIAN
Gene: ELAC2
Disease: PROSTATE CANCER, HEREDITARY, 2 (OMIM:614731)
Association type: POLYGENIC
Gene: ELAC2
Disease: Familial prostate cancer (ORPHA:1331)
Association type: UNKNOWN
Gene: ELAC2
Disease: Combined oxidative phosphorylation defect type 17; COXPD17 (ORPHA:369913)
Association type: UNKNOWN
Gene: TRAIP
Disease: SECKEL SYNDROME 9 (OMIM:616777)
Association type: MENDELIAN
Gene: TRAIP
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: TRAIP
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: TRAIP
Disease: Seckel syndrome (ORPHA:808)
Association type: UNKNOWN
Gene: CEP57
Disease: MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2 (OMIM:614114)
Association type: MENDELIAN
Gene: CEP57
Disease: Mosaic variegated aneuploidy syndrome; Warburton-Anyane-Yeboa syndrome (ORPHA:1052)
Association type: UNKNOWN
Gene: LAMC3
Disease: CORTICAL MALFORMATIONS, OCCIPITAL (OMIM:614115)
Association type: MENDELIAN
Gene: LAMC3
Disease: Occipital pachygyria and polymicrogyria; Occipital MCD; Occipital malformations of cortical development (ORPHA:280640)
Association type: UNKNOWN
Gene: ZMYND10
Disease: CILIARY DYSKINESIA, PRIMARY, 22 (OMIM:615444)
Association type: MENDELIAN
Gene: ZMYND10
Disease: Primary ciliary dyskinesia; PCD (ORPHA:244)
Association type: UNKNOWN
Gene: DNMT1
Disease: NEUROPATHY, HEREDITARY SENSORY, TYPE IE (OMIM:614116)
Association type: MENDELIAN
Gene: DNMT1
Disease: CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT (OMIM:604121)
Association type: MENDELIAN
Gene: DNMT1
Disease: Hereditary sensory neuropathy-deafness-dementia syndrome; HSAN1E; HSN1E; Hereditary sensory neuropathy-sensorineural hearing loss-dementia syndrome (ORPHA:456318)
Association type: UNKNOWN
Gene: DNMT1
Disease: Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome; ADCA-DN syndrome; Autosomal dominant cerebellar ataxia-hearing loss-narcolepsy syndrome (ORPHA:314404)
Association type: UNKNOWN
Gene: HLA-DRB1
Disease: SARCOIDOSIS, SUSCEPTIBILITY TO, 1 (OMIM:181000)
Association type: POLYGENIC
Gene: HLA-DRB1
Disease: MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO (OMIM:126200)
Association type: POLYGENIC