TaoMedAI/RareMedData huggingface dataset:
Gene: STAT5B
Disease: GROWTH HORMONE INSENSITIVITY SYNDROME WITH IMMUNE DYSREGULATION 1, AUTOSOMAL RECESSIVE (OMIM:245590)
Association type: MENDELIAN
Gene: STAT5B
Disease: Laron syndrome with immunodeficiency; Laron-like syndrome; Short stature due to STAT5b deficiency (ORPHA:220465)
Association type: UNKNOWN
Gene: STAT5B
Disease: Acute promyelocytic leukemia; AML M3; AML with t(15;17)(q22;q12);(PML/RARalpha) and variants; APML; Acute myeloblastic leukemia 3; Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants (ORPHA:520)
Association type: UNKNOWN
Gene: RAC2
Disease: IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA (OMIM:618986)
Association type: MENDELIAN
Gene: RAC2
Disease: IMMUNODEFICIENCY 73C WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND HYPOGAMMAGLOBULINEMIA (OMIM:618987)
Association type: MENDELIAN
Gene: RAC2
Disease: IMMUNODEFICIENCY 73A WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LEUKOCYTOSIS (OMIM:608203)
Association type: MENDELIAN
Gene: RAC2
Disease: Infantile LAD-like disease due to RAC2 deficiency; Infantile leukocyte adhesion deficiency due to Rac family small GTPase 2 deficiency (ORPHA:183707)
Association type: UNKNOWN
Gene: RAC2
Disease: Reticular dysgenesis-like severe combined immunodeficiency; Activated RAC2-associated severe combined immunodeficiency; Activated Rac2 defect; Non-syndromic reticular dysgenesis; Reticular dysgenesis-like SCID (ORPHA:688543)
Association type: UNKNOWN
Gene: RAC2
Disease:  (ORPHA:692812)
Association type: UNKNOWN
Gene: PDK3
Disease: CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 6 (OMIM:300905)
Association type: MENDELIAN
Gene: PDK3
Disease: X-linked Charcot-Marie-Tooth disease type 6; CMT6X; CMTX6 (ORPHA:352675)
Association type: UNKNOWN
Gene: PPP2R2B
Disease: SPINOCEREBELLAR ATAXIA 12 (OMIM:604326)
Association type: MENDELIAN
Gene: PPP2R2B
Disease: Spinocerebellar ataxia type 12; SCA12 (ORPHA:98762)
Association type: UNKNOWN
Gene: MTRR
Disease: HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, cblE COMPLEMENTATION TYPE (OMIM:236270)
Association type: MENDELIAN
Gene: MTRR
Disease: NEURAL TUBE DEFECTS, FOLATE-SENSITIVE (OMIM:601634)
Association type: POLYGENIC
Gene: MTRR
Disease: Methylcobalamin deficiency type cblE; Functional methionine synthase deficiency type cblE (ORPHA:2169)
Association type: UNKNOWN
Gene: KRT17
Disease: STEATOCYSTOMA MULTIPLEX (OMIM:184500)
Association type: MENDELIAN
Gene: KRT17
Disease: PACHYONYCHIA CONGENITA 2 (OMIM:167210)
Association type: MENDELIAN
Gene: KRT17
Disease: Sebocystomatosis; Steatocystoma multiplex (ORPHA:841)
Association type: UNKNOWN
Gene: KRT17
Disease: Pachyonychia congenita; PC (ORPHA:2309)
Association type: UNKNOWN
Gene: HAAO
Disease: VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 1 (OMIM:617660)
Association type: MENDELIAN
Gene: HAAO
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: HAAO
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: HAAO
Disease: Congenital vertebral-cardiac-renal anomalies syndrome; Congenital NAD deficiency disorder (ORPHA:521438)
Association type: UNKNOWN
Gene: KIF4A
Disease: MENTAL RETARDATION, X-LINKED 100 (OMIM:300923)
Association type: MENDELIAN
Gene: KIF4A
Disease: TAURODONTISM, MICRODONTIA, AND DENS INVAGINATUS (OMIM:313490)
Association type: MENDELIAN
Gene: MRPS34
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32 (OMIM:617664)
Association type: MENDELIAN
Gene: PTPRQ
Disease: DEAFNESS, AUTOSOMAL DOMINANT 73 (OMIM:617663)
Association type: MENDELIAN
Gene: PTPRQ
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 84A (OMIM:613391)
Association type: MENDELIAN
Gene: PTPRQ
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: PTPRQ
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: GZF1
Disease: JOINT LAXITY, SHORT STATURE, AND MYOPIA (OMIM:617662)
Association type: MENDELIAN
Gene: GZF1
Disease: MARSHALL SYNDROME (OMIM:154780)
Association type: MENDELIAN
Gene: GZF1
Disease: OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:184840)
Association type: MENDELIAN
Gene: GZF1
Disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Association type: MENDELIAN
Gene: GZF1
Disease: LARSEN SYNDROME (OMIM:150250)
Association type: MENDELIAN
Gene: GZF1
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: GZF1
Disease: KNIEST DYSPLASIA (OMIM:156550)
Association type: MENDELIAN
Gene: GZF1
Disease: WAGNER VITREORETINOPATHY (OMIM:143200)
Association type: MENDELIAN
Gene: GZF1
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: GZF1
Disease: Severe myopia-generalized joint laxity-short stature syndrome (ORPHA:527450)
Association type: UNKNOWN
Gene: KYNU
Disease: VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 2 (OMIM:617661)
Association type: MENDELIAN
Gene: KYNU
Disease: HYDROXYKYNURENINURIA (OMIM:236800)
Association type: MENDELIAN
Gene: KYNU
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: KYNU
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: KYNU
Disease: Congenital vertebral-cardiac-renal anomalies syndrome; Congenital NAD deficiency disorder (ORPHA:521438)
Association type: UNKNOWN
Gene: KYNU
Disease: Hydroxykynureninuria; Kynureninase deficiency; Xanthurenic aciduria (ORPHA:79155)
Association type: UNKNOWN
Gene: SNAP25
Disease: MYASTHENIC SYNDROME, CONGENITAL, 18 (OMIM:616330)
Association type: MENDELIAN
Gene: SNAP25
Disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Association type: UNKNOWN
Gene: LIPT2
Disease: ENCEPHALOPATHY, NEONATAL SEVERE, WITH LACTIC ACIDOSIS AND BRAIN ABNORMALITIES (OMIM:617668)
Association type: MENDELIAN
Gene: KCNT1
Disease: EPILEPSY, NOCTURNAL FRONTAL LOBE, 5 (OMIM:615005)
Association type: MENDELIAN
Gene: KCNT1
Disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 14 (OMIM:614959)
Association type: MENDELIAN
Gene: KCNT1
Disease: Autosomal dominant nocturnal frontal lobe epilepsy; ADNFLE; Autosomal dominant sleep-related hypermotor epilepsy (ORPHA:98784)
Association type: UNKNOWN
Gene: KCNT1
Disease: Epilepsy of infancy with migrating focal seizures; EIMFS; Epilepsy with migrating focal seizure in infancy; MMPEI; MMPSI; MPEI; MPSI; Malignant migrating partial epilepsy of infancy; Malignant migrating partial seizures of infancy; Migrating partial epilepsy of infancy; Migrating partial seizures of infancy (ORPHA:293181)
Association type: UNKNOWN
Gene: GRIP1
Disease: FRASER SYNDROME 3 (OMIM:617667)
Association type: MENDELIAN
Gene: GRIP1
Disease: Fraser syndrome; Cryptophthalmos-syndactyly syndrome (ORPHA:2052)
Association type: UNKNOWN
Gene: ST3GAL3
Disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 15 (OMIM:615006)
Association type: MENDELIAN
Gene: ST3GAL3
Disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 12 (OMIM:611090)
Association type: MENDELIAN
Gene: ST3GAL3
Disease:  (ORPHA:697734)
Association type: UNKNOWN
Gene: USP9X
Disease: MENTAL RETARDATION, X-LINKED 99 (OMIM:300919)
Association type: MENDELIAN
Gene: USP9X
Disease: MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED (OMIM:300968)
Association type: MENDELIAN
Gene: USP9X
Disease: X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability; X-linked facial dysmorphism-short stature-choanal atresia-intellectual disability syndrome limited to females (ORPHA:480880)
Association type: UNKNOWN
Gene: USP9X
Disease: X-linked non-syndromic intellectual disability (ORPHA:777)
Association type: UNKNOWN
Gene: FREM2
Disease: FRASER SYNDROME 2 (OMIM:617666)
Association type: MENDELIAN
Gene: FREM2
Disease: CRYPTOPHTHALMOS, UNILATERAL OR BILATERAL, ISOLATED (OMIM:123570)
Association type: MENDELIAN
Gene: FREM2
Disease: Fraser syndrome; Cryptophthalmos-syndactyly syndrome (ORPHA:2052)
Association type: UNKNOWN
Gene: FREM2
Disease: Renal agenesis, unilateral (ORPHA:93100)
Association type: UNKNOWN
Gene: FREM2
Disease: Complete cryptophthalmia (ORPHA:98949)
Association type: UNKNOWN
Gene: TUBGCP4
Disease: MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 3 (OMIM:616335)
Association type: MENDELIAN
Gene: TUBGCP4
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: TUBGCP4
Disease: Autosomal recessive chorioretinopathy-microcephaly syndrome; Autosomal recessive chorioretinopathy-microcephaly-intellectual disability syndrome (ORPHA:2518)
Association type: UNKNOWN
Gene: YWHAG
Disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 56 (OMIM:617665)
Association type: MENDELIAN
Gene: YWHAG
Disease: Non-specific early-onset epileptic encephalopathy; Non-specific EOEE; Undetermined EOEE; Undetermined early-onset epileptic encephalopathy (ORPHA:442835)
Association type: UNKNOWN
Gene: PACS1
Disease: SCHUURS-HOEIJMAKERS SYNDROME (OMIM:615009)
Association type: MENDELIAN
Gene: PACS1
Disease: Schuurs-Hoeijmakers syndrome; PACS1-NDD; PACS1-neurodevelopmental disorder; PACS1-related syndrome (ORPHA:329224)
Association type: UNKNOWN
Gene: COL4A6
Disease: DEAFNESS, X-LINKED 6 (OMIM:300914)
Association type: MENDELIAN
Gene: COL4A6
Disease: Rare X-linked non-syndromic sensorineural deafness type DFN; X-linked isolated neurosensory deafness type DFN; X-linked isolated neurosensory hearing loss type DFN; X-linked isolated sensorineural deafness type DFN; X-linked isolated sensorineural hearing loss type DFN; X-linked non-syndromic neurosensory deafness type DFN; X-linked non-syndromic neurosensory hearing loss type DFN; X-linked non-syndromic sensorineural hearing loss type DFN (ORPHA:90625)
Association type: UNKNOWN
Gene: COL4A6
Disease: X-linked Alport syndrome-diffuse leiomyomatosis; Xq22.3 microdeletion syndrome (ORPHA:1018)
Association type: UNKNOWN
Gene: HMGB3
Disease: MICROPHTHALMIA, SYNDROMIC 13 (OMIM:300915)
Association type: MENDELIAN
Gene: CLDN16
Disease: HYPOMAGNESEMIA 3, RENAL (OMIM:248250)
Association type: MENDELIAN
Gene: CLDN16
Disease: Primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement; FHHNC without severe ocular involvement; HOMG3; Renal hypomagnesemia type 3 (ORPHA:31043)
Association type: UNKNOWN
Gene: RC3H1
Disease: IMMUNE DYSREGULATION AND SYSTEMIC HYPERINFLAMMATION SYNDROME (OMIM:618998)
Association type: MENDELIAN
Gene: AARS1
Disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 29 (OMIM:616339)
Association type: MENDELIAN
Gene: AARS1
Disease: LEUKOENCEPHALOPATHY, HEREDITARY DIFFUSE, WITH SPHEROIDS 2 (OMIM:619661)
Association type: MENDELIAN
Gene: AARS1
Disease: TRICHOTHIODYSTROPHY 8, NONPHOTOSENSITIVE (OMIM:619691)
Association type: MENDELIAN
Gene: AARS1
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2N (OMIM:613287)
Association type: MENDELIAN
Gene: AARS1
Disease: Trichothiodystrophy (ORPHA:33364)
Association type: UNKNOWN
Gene: AARS1
Disease: Autosomal dominant Charcot-Marie-Tooth disease type 2N; CMT2N (ORPHA:228174)
Association type: UNKNOWN
Gene: AARS1
Disease: Non-specific early-onset epileptic encephalopathy; Non-specific EOEE; Undetermined EOEE; Undetermined early-onset epileptic encephalopathy (ORPHA:442835)
Association type: UNKNOWN
Gene: JAK1
Disease: AUTOINFLAMMATION, IMMUNE DYSREGULATION, AND EOSINOPHILIA (OMIM:618999)
Association type: MENDELIAN
Gene: JAK1
Disease: Mendelian susceptibility to mycobacterial diseases due to partial JAK1 deficiency; MSMD due to partial JAK1 deficiency; Mendelian susceptibility to mycobacterial diseases due to partial Janus kinase 1 deficiency (ORPHA:574957)
Association type: UNKNOWN
Gene: JAK1
Disease: Breast implant-associated anaplastic large cell lymphoma; Breast implant-associated ALCL; Seroma-associated ALCL (ORPHA:667662)
Association type: UNKNOWN
Gene: TRAPPC12
Disease: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY (OMIM:617669)
Association type: MENDELIAN
Gene: TRAPPC12
Disease: Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome; Early-onset progressive encephalopathy-brain atrophy-spasticity syndrome; PEBAS (ORPHA:500144)
Association type: UNKNOWN
Gene: DGKE
Disease: NEPHROTIC SYNDROME, TYPE 7 (OMIM:615008)
Association type: MENDELIAN
Gene: DGKE
Disease: Immunoglobulin-mediated membranoproliferative glomerulonephritis; Ig-mediated MPGN; Ig-mediated membranoproliferative glomerulonephritis; Immunoglobulin-mediated MPGN (ORPHA:329903)
Association type: UNKNOWN
Gene: DGKE
Disease: Hemolytic uremic syndrome with DGKE deficiency; HUS with DGKE deficiency (ORPHA:357008)
Association type: UNKNOWN
Gene: IGHMBP2
Disease: SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 1 (OMIM:604320)
Association type: MENDELIAN
Gene: IGHMBP2
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2S (OMIM:616155)
Association type: MENDELIAN
Gene: IGHMBP2
Disease: Charcot-Marie-Tooth disease type 2S; CMT2S (ORPHA:443073)
Association type: UNKNOWN
Gene: IGHMBP2
Disease: Spinal muscular atrophy with respiratory distress type 1; Autosomal recessive distal spinal muscular atrophy type 1; Autosomal recessive spinal muscular atrophy with respiratory distress; Diaphragmatic spinal muscular atrophy; Distal hereditary motor neuropathy type 6; Distal-HMN type 6; SIANRF; SMARD1; Severe infantile axonal neuropathy with respiratory failure type 1; dHMN6; dSMA1 (ORPHA:98920)
Association type: UNKNOWN
Gene: KNL1
Disease: MICROCEPHALY 4, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:604321)
Association type: MENDELIAN
Gene: KNL1
Disease: Autosomal recessive primary microcephaly; MCPH; Microcephalia vera; Microcephaly vera; True microcephaly (ORPHA:2512)
Association type: UNKNOWN
Gene: WDR62
Disease: MICROCEPHALY 2, PRIMARY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT CORTICAL MALFORMATIONS (OMIM:604317)
Association type: MENDELIAN
Gene: WDR62
Disease: Autosomal recessive primary microcephaly; MCPH; Microcephalia vera; Microcephaly vera; True microcephaly (ORPHA:2512)
Association type: UNKNOWN
Gene: FCGR2A
Disease: CYSTIC FIBROSIS (OMIM:219700)
Association type: POLYGENIC
Gene: FCGR2A
Disease: SYSTEMIC LUPUS ERYTHEMATOSUS (OMIM:152700)
Association type: POLYGENIC
Gene: FCGR2A
Disease: MALARIA, SUSCEPTIBILITY TO (OMIM:611162)
Association type: POLYGENIC
Gene: TGFB1
Disease: CYSTIC FIBROSIS (OMIM:219700)
Association type: POLYGENIC
Gene: TGFB1
Disease: INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY (OMIM:618213)
Association type: MENDELIAN
Gene: TGFB1
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: TGFB1
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: TGFB1
Disease: Camurati-Engelmann disease; Progressive diaphyseal dysplasia (ORPHA:1328)
Association type: UNKNOWN
Gene: TGFB1
Disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Association type: UNKNOWN
Gene: TGFB1
Disease: Infantile inflammatory bowel disease with neurological involvement (ORPHA:565788)
Association type: UNKNOWN
Gene: SAMD9L
Disease: ATAXIA-PANCYTOPENIA SYNDROME (OMIM:159550)
Association type: MENDELIAN
Gene: SAMD9L
Disease: MONOSOMY 7 MYELODYSPLASIA AND LEUKEMIA SYNDROME 1 (OMIM:252270)
Association type: MENDELIAN
Gene: SAMD9L
Disease: SPINOCEREBELLAR ATAXIA 49 (OMIM:619806)
Association type: MENDELIAN
Gene: SAMD9L
Disease: Spinocerebellar ataxia type 49 (ORPHA:631106)
Association type: UNKNOWN
Gene: SAMD9L
Disease: Ataxia-pancytopenia syndrome; Myelocerebellar disorder (ORPHA:2585)
Association type: UNKNOWN
Gene: SAMD9L
Disease: SAMD9L-associated autoinflammatory syndrome; SAMD9L-SAAD (ORPHA:619367)
Association type: UNKNOWN
Gene: CLDN10
Disease: HELIX SYNDROME (OMIM:617671)
Association type: MENDELIAN
Gene: CLDN10
Disease: Hypohidrosis-electrolyte imbalance-lacrimal gland dysfunction-ichthyosis-xerostomia syndrome; HELIX syndrome (ORPHA:528105)
Association type: UNKNOWN
Gene: OSBPL2
Disease: DEAFNESS, AUTOSOMAL DOMINANT 67 (OMIM:616340)
Association type: MENDELIAN
Gene: OSBPL2
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: MSTO1
Disease: MYOPATHY, MITOCHONDRIAL, AND ATAXIA (OMIM:617675)
Association type: MENDELIAN
Gene: MSTO1
Disease: Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome; Mitochondrial myopathy-cerebellar atrophy-pigmentary retinopathy syndrome (ORPHA:502423)
Association type: UNKNOWN
Gene: CDK5
Disease: LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA (OMIM:616342)
Association type: MENDELIAN
Gene: ADAR
Disease: AICARDI-GOUTIERES SYNDROME 6 (OMIM:615010)
Association type: MENDELIAN
Gene: ADAR
Disease: DYSCHROMATOSIS SYMMETRICA HEREDITARIA (OMIM:127400)
Association type: MENDELIAN
Gene: ADAR
Disease: Dyschromatosis symmetrica hereditaria; Acropigmentation of Dohi (ORPHA:41)
Association type: UNKNOWN
Gene: ADAR
Disease: Aicardi-Goutières syndrome; Encephalopathy with basal ganglia calcification; Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid (ORPHA:51)
Association type: UNKNOWN
Gene: ADAR
Disease: Familial infantile bilateral striatal necrosis; Familial IBSN; Familial infantile striatonigral degeneration; Familial infantile striatonigral necrosis (ORPHA:225154)
Association type: UNKNOWN
Gene: ADAR
Disease:  (ORPHA:694356)
Association type: UNKNOWN
Gene: UBTF
Disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH BRAIN ATROPHY (OMIM:617672)
Association type: MENDELIAN
Gene: UBTF
Disease: Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder (ORPHA:500180)
Association type: UNKNOWN
Gene: SIK1
Disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 30 (OMIM:616341)
Association type: MENDELIAN
Gene: SIK1
Disease:  (ORPHA:697160)
Association type: UNKNOWN
Gene: SIK1
Disease: Early infantile epileptic encephalopathy; EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Ohtahara syndrome (ORPHA:1934)
Association type: UNKNOWN
Gene: PHYKPL
Disease: PHOSPHOHYDROXYLYSINURIA (OMIM:615011)
Association type: MENDELIAN
Gene: DNM1
Disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 31 (OMIM:616346)
Association type: MENDELIAN
Gene: DNM1
Disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 31B (OMIM:620352)
Association type: MENDELIAN
Gene: DNM1
Disease: Lennox-Gastaut syndrome (ORPHA:2382)
Association type: UNKNOWN
Gene: DNM1
Disease: Non-specific early-onset epileptic encephalopathy; Non-specific EOEE; Undetermined EOEE; Undetermined early-onset epileptic encephalopathy (ORPHA:442835)
Association type: UNKNOWN
Gene: IRF7
Disease: IMMUNODEFICIENCY 39 (OMIM:616345)
Association type: MENDELIAN
Gene: IRF7
Disease: Predisposition to severe viral infection due to IRF7 deficiency (ORPHA:574918)
Association type: UNKNOWN
Gene: B4GALNT2
Disease: BLOOD GROUP, SID SYSTEM (OMIM:615018)
Association type: MENDELIAN
Gene: DGUOK
Disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE) (OMIM:251880)
Association type: MENDELIAN
Gene: DGUOK
Disease: PORTAL HYPERTENSION, NONCIRRHOTIC (OMIM:617068)
Association type: MENDELIAN
Gene: DGUOK
Disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 4 (OMIM:617070)
Association type: MENDELIAN
Gene: DGUOK
Disease: Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency; Adult-onset multiple mtDNA deletion syndrome due to DGUOK deficiency (ORPHA:329314)
Association type: UNKNOWN
Gene: DGUOK
Disease: Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency (ORPHA:279934)
Association type: UNKNOWN
Gene: CLCN2
Disease: HYPERALDOSTERONISM, FAMILIAL, TYPE II (OMIM:605635)
Association type: MENDELIAN
Gene: CLCN2
Disease: LEUKOENCEPHALOPATHY WITH ATAXIA (OMIM:615651)
Association type: MENDELIAN
Gene: CLCN2
Disease: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 11 (OMIM:607628)
Association type: POLYGENIC
Gene: CLCN2
Disease: Juvenile myoclonic epilepsy; JME; Juvenile myoclonus epilepsy (ORPHA:307)
Association type: UNKNOWN
Gene: CLCN2
Disease: Leukoencephalopathy with mild cerebellar ataxia and white matter edema (ORPHA:363540)
Association type: UNKNOWN
Gene: CLCN2
Disease: Familial hyperaldosteronism type II; FH-II; FH2; Familial hyperaldosteronism type 2 (ORPHA:404)
Association type: UNKNOWN
Gene: MYH2
Disease: MYOPATHY, PROXIMAL, WITH OPHTHALMOPLEGIA (OMIM:605637)
Association type: MENDELIAN
Gene: MYH2
Disease: Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome; HIBM3; Hereditary inclusion body myopathy type 3; IBM3; Inclusion body myopathy type 3 (ORPHA:79091)
Association type: UNKNOWN
Gene: MYH2
Disease: Childhood-onset autosomal recessive myopathy with external ophthalmoplegia (ORPHA:363677)
Association type: UNKNOWN
Gene: CRYGC
Disease: CATARACT 2, MULTIPLE TYPES (OMIM:604307)
Association type: MENDELIAN
Gene: CRYGC
Disease: Cataract-microcornea syndrome (ORPHA:1377)
Association type: UNKNOWN
Gene: CRYGC
Disease: Early-onset nuclear cataract (ORPHA:98991)
Association type: UNKNOWN
Gene: CRYGC
Disease: Pulverulent cataract; Coppock-like cataract; Dusty cataract (ORPHA:98984)
Association type: UNKNOWN
Gene: CRYGC
Disease: Early-onset lamellar cataract (ORPHA:441452)
Association type: UNKNOWN
Gene: MTHFR
Disease: HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY (OMIM:236250)
Association type: MENDELIAN
Gene: MTHFR
Disease: THROMBOPHILIA DUE TO THROMBIN DEFECT (OMIM:188050)
Association type: POLYGENIC
Gene: MTHFR
Disease: SCHIZOPHRENIA (OMIM:181500)
Association type: POLYGENIC
Gene: MTHFR
Disease: NEURAL TUBE DEFECTS, FOLATE-SENSITIVE (OMIM:601634)
Association type: POLYGENIC
Gene: MTHFR
Disease: Homocystinuria due to methylene tetrahydrofolate reductase deficiency; MTHFR deficiency; Methylene tetrahydrofolate reductase deficiency (ORPHA:395)
Association type: UNKNOWN
Gene: MTHFR
Disease: Isolated exencephaly (ORPHA:563612)
Association type: UNKNOWN
Gene: MTHFR
Disease: Isolated anencephaly (ORPHA:563609)
Association type: UNKNOWN
Gene: HMOX1
Disease: PULMONARY DISEASE, CHRONIC OBSTRUCTIVE (OMIM:606963)
Association type: POLYGENIC
Gene: HMOX1
Disease: HEME OXYGENASE 1 DEFICIENCY (OMIM:614034)
Association type: MENDELIAN
Gene: HMOX1
Disease: Heme oxygenase-1 deficiency; HO-1 deficiency (ORPHA:562509)
Association type: UNKNOWN
Gene: HMOX1
Disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Association type: UNKNOWN
Gene: MIF
Disease: RHEUMATOID ARTHRITIS, SYSTEMIC JUVENILE (OMIM:604302)
Association type: POLYGENIC
Gene: MIF
Disease: Systemic-onset juvenile idiopathic arthritis; Still disease; Systemic-onset JIA (ORPHA:85414)
Association type: UNKNOWN
Gene: MIF
Disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Association type: UNKNOWN
Gene: CHD1
Disease: PILAROWSKI-BJORNSSON SYNDROME (OMIM:617682)
Association type: MENDELIAN
Gene: CHD1
Disease: Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome; Pilarowski-Bjornsson syndrome (ORPHA:529965)
Association type: UNKNOWN