TaoMedAI/RareMedData huggingface dataset:
Gene: HARS2
Disease: Perrault syndrome type 1; XX gonadal dysgenesis-deafness syndrome-without neurological manifestations (ORPHA:642945)
Association type: UNKNOWN
Gene: BCKDK
Disease: BRANCHED-CHAIN KETO ACID DEHYDROGENASE KINASE DEFICIENCY (OMIM:614923)
Association type: MENDELIAN
Gene: BCKDK
Disease: Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency (ORPHA:308410)
Association type: UNKNOWN
Gene: EARS2
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12 (OMIM:614924)
Association type: MENDELIAN
Gene: EARS2
Disease: Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome; COXPD12; Combined oxidative phosphorylation defect type 12; LTBL (ORPHA:314051)
Association type: UNKNOWN
Gene: OXR1
Disease: CEREBELLAR HYPOPLASIA/ATROPHY, EPILEPSY, AND GLOBAL DEVELOPMENTAL DELAY (OMIM:213000)
Association type: MENDELIAN
Gene: RNASEL
Disease: PROSTATE CANCER, HEREDITARY, 1 (OMIM:601518)
Association type: MENDELIAN
Gene: RNASEL
Disease: Familial prostate cancer (ORPHA:1331)
Association type: UNKNOWN
Gene: HOXC13
Disease: ECTODERMAL DYSPLASIA 9, HAIR/NAIL TYPE (OMIM:614931)
Association type: MENDELIAN
Gene: HOXC13
Disease: Pure hair and nail ectodermal dysplasia; HNED; Hair-nail ectodermal dysplasia; PHNED (ORPHA:69084)
Association type: UNKNOWN
Gene: NOL3
Disease: MYOCLONUS, FAMILIAL, 1 (OMIM:614937)
Association type: MENDELIAN
Gene: NOL3
Disease: Familial cortical myoclonus (ORPHA:319189)
Association type: UNKNOWN
Gene: DNAAF11
Disease: CILIARY DYSKINESIA, PRIMARY, 19 (OMIM:614935)
Association type: MENDELIAN
Gene: DNAAF11
Disease: Primary ciliary dyskinesia; PCD (ORPHA:244)
Association type: UNKNOWN
Gene: MARCHF6
Disease: EPILEPSY, FAMILIAL ADULT MYOCLONIC, 3 (OMIM:613608)
Association type: MENDELIAN
Gene: MARCHF6
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: DNAJB13
Disease: CILIARY DYSKINESIA, PRIMARY, 34 (OMIM:617091)
Association type: MENDELIAN
Gene: DNAJB13
Disease: Primary ciliary dyskinesia; PCD (ORPHA:244)
Association type: UNKNOWN
Gene: CIT
Disease: MICROCEPHALY 17, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:617090)
Association type: MENDELIAN
Gene: CIT
Disease: Autosomal recessive primary microcephaly; MCPH; Microcephalia vera; Microcephaly vera; True microcephaly (ORPHA:2512)
Association type: UNKNOWN
Gene: LRPPRC
Disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 5 (OMIM:220111)
Association type: MENDELIAN
Gene: LRPPRC
Disease: Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type; COX deficiency, French-Canadian type; Cytochrome C oxidase deficiency, French-Canadian type; Cytochrome oxidase deficiency, Saguenay-Lac-Saint-Jean type; Leigh syndrome, French-Canadian type; Leigh syndrome, Saguenay-Lac-Saint-Jean type; SLSJ-COX deficiency (ORPHA:70472)
Association type: UNKNOWN
Gene: IARS1
Disease: GROWTH RETARDATION, IMPAIRED INTELLECTUAL DEVELOPMENT, HYPOTONIA, AND HEPATOPATHY (OMIM:617093)
Association type: MENDELIAN
Gene: IARS1
Disease: Growth delay-intellectual disability-hepatopathy syndrome (ORPHA:541423)
Association type: UNKNOWN
Gene: ODAD4
Disease: CILIARY DYSKINESIA, PRIMARY, 35 (OMIM:617092)
Association type: MENDELIAN
Gene: ODAD4
Disease: Primary ciliary dyskinesia; PCD (ORPHA:244)
Association type: UNKNOWN
Gene: CHIC2
Disease: LEUKEMIA, ACUTE MYELOID (OMIM:601626)
Association type: POLYGENIC
Gene: LPP
Disease: LEUKEMIA, ACUTE MYELOID (OMIM:601626)
Association type: MENDELIAN
Gene: PICALM
Disease: LEUKEMIA, ACUTE MYELOID (OMIM:601626)
Association type: MENDELIAN
Gene: PICALM
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: MLLT10
Disease: LEUKEMIA, ACUTE MYELOID (OMIM:601626)
Association type: MENDELIAN
Gene: MLLT10
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: CEBPA
Disease: LEUKEMIA, ACUTE MYELOID (OMIM:601626)
Association type: MENDELIAN
Gene: CEBPA
Disease: Acute myeloid leukemia with t(8;21)(q22;q22) translocation; AML with t(8;21)(q22;q22) translocation (ORPHA:102724)
Association type: UNKNOWN
Gene: CEBPA
Disease: Acute myeloid leukemia with CEBPA somatic mutations; AML with CEBPA somatic mutations (ORPHA:319480)
Association type: UNKNOWN
Gene: CEBPA
Disease: Inherited acute myeloid leukemia; Familial AML; Inherited AML; Pure familial AML; Pure familial acute myeloid leukemia (ORPHA:319465)
Association type: UNKNOWN
Gene: SH3GL1
Disease: LEUKEMIA, ACUTE MYELOID (OMIM:601626)
Association type: MENDELIAN
Gene: NPM1
Disease: LEUKEMIA, ACUTE MYELOID (OMIM:601626)
Association type: MENDELIAN
Gene: NPM1
Disease: Lymphomatoid papulosis; LyP (ORPHA:98842)
Association type: UNKNOWN
Gene: NPM1
Disease: Acute myeloblastic leukemia without maturation; AML M1; Acute myeloblastic leukemia M1 (ORPHA:98833)
Association type: UNKNOWN
Gene: NPM1
Disease: Acute myeloblastic leukemia with maturation; AML M2; Acute myeloblastic leukemia M2 (ORPHA:98834)
Association type: UNKNOWN
Gene: NPM1
Disease: Acute myeloid leukemia with NPM1 somatic mutations; AML with NPM1 somatic mutations (ORPHA:402026)
Association type: UNKNOWN
Gene: NPM1
Disease: Primary cutaneous anaplastic large cell lymphoma; Primary C-ALCL; Regressive atypical histiocytosis (ORPHA:300865)
Association type: UNKNOWN
Gene: NPM1
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: NPM1
Disease: Dyskeratosis congenita; DC; DKC; Zinsser-Engman-Cole syndrome (ORPHA:1775)
Association type: UNKNOWN
Gene: BEAN1
Disease: SPINOCEREBELLAR ATAXIA 31 (OMIM:117210)
Association type: MENDELIAN
Gene: BEAN1
Disease: Spinocerebellar ataxia type 31; SCA31 (ORPHA:217012)
Association type: UNKNOWN
Gene: MT-TN
Disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Association type: MENDELIAN
Gene: MT-TN
Disease: Mitochondrial DNA-related progressive external ophthalmoplegia; Maternally-inherited CPEO; Maternally-inherited chronic progressive external ophthalmoplegia; mtDNA-related progressive external ophthalmoplegia (ORPHA:663)
Association type: UNKNOWN
Gene: SEPTIN12
Disease: SPERMATOGENIC FAILURE 10 (OMIM:614822)
Association type: MENDELIAN
Gene: SEPTIN12
Disease: Non-syndromic male infertility due to sperm motility disorder; Non-syndromic male infertility due asthenozoospermia (ORPHA:276234)
Association type: UNKNOWN
Gene: SLC3A1
Disease: CYSTINURIA (OMIM:220100)
Association type: MENDELIAN
Gene: SLC3A1
Disease: Atypical hypotonia-cystinuria syndrome; Atypical HCS (ORPHA:238523)
Association type: UNKNOWN
Gene: SLC3A1
Disease: Hypotonia-cystinuria syndrome; HCS (ORPHA:163690)
Association type: UNKNOWN
Gene: SLC3A1
Disease: 2p21 microdeletion syndrome; 2p21 deletion syndrome; Del(2)(p21); Monosomy 2p21 (ORPHA:163693)
Association type: UNKNOWN
Gene: SLC3A1
Disease: Cystinuria type A (ORPHA:93612)
Association type: UNKNOWN
Gene: SLC7A9
Disease: CYSTINURIA (OMIM:220100)
Association type: MENDELIAN
Gene: SLC7A9
Disease: Cystinuria type B (ORPHA:93613)
Association type: UNKNOWN
Gene: RTTN
Disease: MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH OR WITHOUT SEIZURES (OMIM:614833)
Association type: MENDELIAN
Gene: RTTN
Disease: Microcephalic cortical malformations-short stature due to RTTN deficiency (ORPHA:468631)
Association type: UNKNOWN
Gene: CD79A
Disease: AGAMMAGLOBULINEMIA 3, AUTOSOMAL RECESSIVE (OMIM:613501)
Association type: MENDELIAN
Gene: CD79A
Disease: Autosomal agammaglobulinemia; Agammaglobulinemia, non-Bruton type (ORPHA:33110)
Association type: UNKNOWN
Gene: IGLL1
Disease: AGAMMAGLOBULINEMIA 2, AUTOSOMAL RECESSIVE (OMIM:613500)
Association type: MENDELIAN
Gene: IGLL1
Disease: Autosomal agammaglobulinemia; Agammaglobulinemia, non-Bruton type (ORPHA:33110)
Association type: UNKNOWN
Gene: ODAPH
Disease: AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA4 (OMIM:614832)
Association type: MENDELIAN
Gene: ODAPH
Disease: Hypomaturation amelogenesis imperfecta; Amelogenesis imperfecta type 2 (ORPHA:100033)
Association type: UNKNOWN
Gene: BLNK
Disease: AGAMMAGLOBULINEMIA 4, AUTOSOMAL RECESSIVE (OMIM:613502)
Association type: MENDELIAN
Gene: BLNK
Disease: Autosomal agammaglobulinemia; Agammaglobulinemia, non-Bruton type (ORPHA:33110)
Association type: UNKNOWN
Gene: LRRC8A
Disease: AGAMMAGLOBULINEMIA 5, AUTOSOMAL DOMINANT (OMIM:613506)
Association type: MENDELIAN
Gene: LRRC8A
Disease: Autosomal agammaglobulinemia; Agammaglobulinemia, non-Bruton type (ORPHA:33110)
Association type: UNKNOWN
Gene: GRIA3
Disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WU TYPE (OMIM:300699)
Association type: MENDELIAN
Gene: GRIA3
Disease: X-linked intellectual disability due to GRIA3 mutations (ORPHA:364028)
Association type: UNKNOWN
Gene: PRSS56
Disease: MICROPHTHALMIA, ISOLATED 6 (OMIM:613517)
Association type: MENDELIAN
Gene: PRSS56
Disease: Nanophthalmos; Nanophthalmia (ORPHA:35612)
Association type: UNKNOWN
Gene: DHCR7
Disease: SMITH-LEMLI-OPITZ SYNDROME (OMIM:270400)
Association type: MENDELIAN
Gene: DHCR7
Disease: Smith-Lemli-Opitz syndrome; 7-dehydrocholesterol reductase deficiency; RSH syndrome; SLOS (ORPHA:818)
Association type: UNKNOWN
Gene: SUCLG1
Disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA) (OMIM:245400)
Association type: MENDELIAN
Gene: SUCLG1
Disease: Fatal infantile lactic acidosis with methylmalonic aciduria (ORPHA:17)
Association type: UNKNOWN
Gene: GLYCTK
Disease: D-GLYCERIC ACIDURIA (OMIM:220120)
Association type: MENDELIAN
Gene: GLYCTK
Disease: D-glyceric aciduria; D-glycerate kinase deficiency; D-glyceric acidemia (ORPHA:941)
Association type: UNKNOWN
Gene: TICAM1
Disease: ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 6 (OMIM:614850)
Association type: POLYGENIC
Gene: TICAM1
Disease: Herpes simplex virus encephalitis; HSE; HSV encephalitis; HSVE; Herpes simplex meningo-encephalitis; Herpes simplex neuroinvasion; Herpetic encephalitis (ORPHA:1930)
Association type: UNKNOWN
Gene: ABCD4
Disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE (OMIM:614857)
Association type: MENDELIAN
Gene: ABCD4
Disease: Methylmalonic acidemia with homocystinuria, type cblJ; CblJ defects; Cobalamin J defect; Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblJ; Methylmalonic aciduria with homocystinuria, type cblJ (ORPHA:369955)
Association type: UNKNOWN
Gene: CDKL5
Disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 2 (OMIM:300672)
Association type: MENDELIAN
Gene: CDKL5
Disease: CDKL5-deficiency disorder; CDD (ORPHA:505652)
Association type: UNKNOWN
Gene: CDKL5
Disease: Atypical Rett syndrome; Atypical RTT; Rett syndrome variant (ORPHA:3095)
Association type: UNKNOWN
Gene: CDKL5
Disease:  (ORPHA:697160)
Association type: UNKNOWN
Gene: CDKL5
Disease: Early infantile epileptic encephalopathy; EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Ohtahara syndrome (ORPHA:1934)
Association type: UNKNOWN
Gene: SLC22A12
Disease: HYPOURICEMIA, RENAL, 1 (OMIM:220150)
Association type: MENDELIAN
Gene: SLC22A12
Disease: Hereditary renal hypouricemia; Familial renal hypouricemia (ORPHA:94088)
Association type: UNKNOWN
Gene: UPF3B
Disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC 14 (OMIM:300676)
Association type: MENDELIAN
Gene: UPF3B
Disease: Lujan-Fryns syndrome; X-linked intellectual disability with marfanoid habitus (ORPHA:776)
Association type: UNKNOWN
Gene: UPF3B
Disease: X-linked non-syndromic intellectual disability (ORPHA:777)
Association type: UNKNOWN
Gene: LDHD
Disease: D-LACTIC ACIDURIA WITH GOUT (OMIM:245450)
Association type: MENDELIAN
Gene: STK4
Disease: T-CELL IMMUNODEFICIENCY, RECURRENT INFECTIONS, AND AUTOIMMUNITY WITH OR WITHOUT CARDIAC MALFORMATIONS (OMIM:614868)
Association type: MENDELIAN
Gene: STK4
Disease: Combined immunodeficiency due to STK4 deficiency; CID due to STK4 deficiency (ORPHA:314689)
Association type: UNKNOWN
Gene: PEX10
Disease: PEROXISOME BIOGENESIS DISORDER 6A (ZELLWEGER) (OMIM:614870)
Association type: MENDELIAN
Gene: PEX10
Disease: PEROXISOME BIOGENESIS DISORDER 6B (OMIM:614871)
Association type: MENDELIAN
Gene: PEX10
Disease: Neonatal adrenoleukodystrophy; Intermediate PBD-ZSD; Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder; NALD (ORPHA:44)
Association type: UNKNOWN
Gene: PEX10
Disease: Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; ZS (ORPHA:912)
Association type: UNKNOWN
Gene: PEX10
Disease: Infantile Refsum disease; IRD; Mild PBD-ZSD; Mild peroxisome biogenesis disorder-Zellweger spectrum disorder (ORPHA:772)
Association type: UNKNOWN
Gene: PEX10
Disease: Autosomal recessive ataxia due to PEX10 deficiency; Mild peroxisomal disorder due to PEX10 deficiency (ORPHA:247815)
Association type: UNKNOWN
Gene: PEX26
Disease: PEROXISOME BIOGENESIS DISORDER 7B (OMIM:614873)
Association type: MENDELIAN
Gene: PEX26
Disease: PEROXISOME BIOGENESIS DISORDER 7A (ZELLWEGER) (OMIM:614872)
Association type: MENDELIAN
Gene: PEX26
Disease: Neonatal adrenoleukodystrophy; Intermediate PBD-ZSD; Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder; NALD (ORPHA:44)
Association type: UNKNOWN
Gene: PEX26
Disease: Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; ZS (ORPHA:912)
Association type: UNKNOWN
Gene: PEX26
Disease: Infantile Refsum disease; IRD; Mild PBD-ZSD; Mild peroxisome biogenesis disorder-Zellweger spectrum disorder (ORPHA:772)
Association type: UNKNOWN
Gene: DNAAF5
Disease: CILIARY DYSKINESIA, PRIMARY, 18 (OMIM:614874)
Association type: MENDELIAN
Gene: DNAAF5
Disease: Primary ciliary dyskinesia; PCD (ORPHA:244)
Association type: UNKNOWN
Gene: PEX16
Disease: PEROXISOME BIOGENESIS DISORDER 8B (OMIM:614877)
Association type: MENDELIAN
Gene: PEX16
Disease: PEROXISOME BIOGENESIS DISORDER 8A (ZELLWEGER) (OMIM:614876)
Association type: MENDELIAN
Gene: PEX16
Disease: Neonatal adrenoleukodystrophy; Intermediate PBD-ZSD; Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder; NALD (ORPHA:44)
Association type: UNKNOWN
Gene: PEX16
Disease: Autosomal recessive ataxia due to PEX16 deficiency; Mild peroxisomal disorder due to PEX16 deficiency (ORPHA:642954)
Association type: UNKNOWN
Gene: PEX16
Disease: Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; ZS (ORPHA:912)
Association type: UNKNOWN
Gene: PEX16
Disease: Infantile Refsum disease; IRD; Mild PBD-ZSD; Mild peroxisome biogenesis disorder-Zellweger spectrum disorder (ORPHA:772)
Association type: UNKNOWN
Gene: CYP19A1
Disease: AROMATASE DEFICIENCY (OMIM:613546)
Association type: MENDELIAN
Gene: CYP19A1
Disease: Aromatase deficiency; Congenital estrogen deficiency (ORPHA:91)
Association type: UNKNOWN
Gene: CYP19A1
Disease: Aromatase excess syndrome; AEXS; Familial hyperestrogenism; Hereditary prepubertal gynecomastia (ORPHA:178345)
Association type: UNKNOWN
Gene: EWSR1
Disease: EWING SARCOMA (OMIM:612219)
Association type: MENDELIAN
Gene: EWSR1
Disease: Skeletal Ewing sarcoma; Osseous Ewing sarcoma (ORPHA:319)
Association type: UNKNOWN
Gene: EWSR1
Disease: Desmoplastic small round cell tumor; DSRCT (ORPHA:83469)
Association type: UNKNOWN
Gene: EWSR1
Disease: Melanoma of soft tissue; Clear cell sarcoma of the tendons and aponeuroses (ORPHA:97338)
Association type: UNKNOWN
Gene: EWSR1
Disease: Extraskeletal myxoid chondrosarcoma (ORPHA:209916)
Association type: UNKNOWN
Gene: EWSR1
Disease: Extraskeletal Ewing sarcoma; EOE; Extraosseous Ewing sarcoma; Extraosseous Ewing tumor; Extraskeletal Ewing tumor (ORPHA:370334)
Association type: UNKNOWN
Gene: EWSR1
Disease: Angiomatoid fibrous histiocytoma; AFH (ORPHA:569164)
Association type: UNKNOWN
Gene: OSMR
Disease: AMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS, 1 (OMIM:105250)
Association type: MENDELIAN
Gene: OSMR
Disease: Familial primary localized cutaneous amyloidosis; FPLCA (ORPHA:353220)
Association type: UNKNOWN
Gene: DNAJB2
Disease: SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 5 (OMIM:614881)
Association type: MENDELIAN
Gene: DNAJB2
Disease: DNAJB2-related Charcot-Marie-Tooth disease type 2; DNAJB2-related CMT2 (ORPHA:443950)
Association type: UNKNOWN
Gene: DNAJB2
Disease: Young adult-onset distal hereditary motor neuropathy; Autosomal recessive distal spinal muscular atrophy type 5; Young adult-onset dHMN; dSMA5 (ORPHA:314485)
Association type: UNKNOWN
Gene: BRWD3
Disease: MENTAL RETARDATION, X-LINKED 93 (OMIM:300659)
Association type: MENDELIAN
Gene: BRWD3
Disease: Non-specific syndromic intellectual disability; Complex neurodevelopmental disorder (ORPHA:528084)
Association type: UNKNOWN
Gene: PEX13
Disease: PEROXISOME BIOGENESIS DISORDER 11B (OMIM:614885)
Association type: MENDELIAN
Gene: PEX13
Disease: PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER) (OMIM:614883)
Association type: MENDELIAN
Gene: PEX13
Disease: Neonatal adrenoleukodystrophy; Intermediate PBD-ZSD; Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder; NALD (ORPHA:44)
Association type: UNKNOWN
Gene: PEX13
Disease: Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; ZS (ORPHA:912)
Association type: UNKNOWN
Gene: PEX13
Disease: Infantile Refsum disease; IRD; Mild PBD-ZSD; Mild peroxisome biogenesis disorder-Zellweger spectrum disorder (ORPHA:772)
Association type: UNKNOWN
Gene: SIAE
Disease: AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 6 (OMIM:613551)
Association type: POLYGENIC
Gene: IFNGR2
Disease: IMMUNODEFICIENCY 28 (OMIM:614889)
Association type: MENDELIAN
Gene: IFNGR2
Disease: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency; Autosomal recessive MSMD due to partial IFNgammaR2 deficiency; Autosomal recessive MSMD due to partial interferon gamma receptor 2 deficiency; Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 2 deficiency (ORPHA:319574)
Association type: UNKNOWN
Gene: IFNGR2
Disease: Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency; MSMD due to complete IFNgammaR2 deficiency; MSMD due to complete interferon gamma receptor 2 deficiency; Mendelian susceptibility to mycobacterial diseases due to complete interferon gamma receptor 2 deficiency (ORPHA:319547)
Association type: UNKNOWN
Gene: IFNGR2
Disease: Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency; Autosomal dominant MSMD due to partial IFNgammaR2 deficiency; Autosomal dominant MSMD due to partial interferon gamma receptor 2 deficiency; Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 2 deficiency (ORPHA:319589)
Association type: UNKNOWN
Gene: PEX19
Disease: PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER) (OMIM:614886)
Association type: MENDELIAN
Gene: PEX19
Disease: Neonatal adrenoleukodystrophy; Intermediate PBD-ZSD; Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder; NALD (ORPHA:44)
Association type: UNKNOWN
Gene: PEX19
Disease: Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; ZS (ORPHA:912)
Association type: UNKNOWN
Gene: PEX19
Disease: Infantile Refsum disease; IRD; Mild PBD-ZSD; Mild peroxisome biogenesis disorder-Zellweger spectrum disorder (ORPHA:772)
Association type: UNKNOWN
Gene: PEX14
Disease: PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER) (OMIM:614887)
Association type: MENDELIAN
Gene: PEX14
Disease: Neonatal adrenoleukodystrophy; Intermediate PBD-ZSD; Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder; NALD (ORPHA:44)
Association type: UNKNOWN
Gene: PEX14
Disease: Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; ZS (ORPHA:912)
Association type: UNKNOWN
Gene: PEX14
Disease: Infantile Refsum disease; IRD; Mild PBD-ZSD; Mild peroxisome biogenesis disorder-Zellweger spectrum disorder (ORPHA:772)
Association type: UNKNOWN
Gene: SMAD7
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 3 (OMIM:612229)
Association type: POLYGENIC
Gene: IL12RB1
Disease: IMMUNODEFICIENCY 30 (OMIM:614891)
Association type: MENDELIAN
Gene: IL12RB1
Disease: Primary biliary cholangitis; Hanot syndrome; PBC; Primary biliary cirrhosis (ORPHA:186)
Association type: UNKNOWN
Gene: IL12RB1
Disease: Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency; MSMD due to complete IL12RB1 deficiency; MSMD due to complete interleukin 12 receptor beta 1 deficiency; Mendelian susceptibility to interleukin 12 receptor beta 1 deficiency (ORPHA:319552)
Association type: UNKNOWN
Gene: YARS2
Disease: MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2 (OMIM:613561)
Association type: MENDELIAN
Gene: YARS2
Disease: Mitochondrial myopathy and sideroblastic anemia; MLASA; Myopathy, lactic acidosis and sideroblastic anemia (ORPHA:2598)
Association type: UNKNOWN
Gene: IL12B
Disease: IMMUNODEFICIENCY 29 (OMIM:614890)
Association type: MENDELIAN
Gene: IL12B
Disease: Takayasu arteritis (ORPHA:3287)
Association type: UNKNOWN
Gene: IL12B
Disease: Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency; MSMD due to complete IL12B deficiency; MSMD due to complete interleukin 12B deficiency; Mendelian susceptibility to mycobacterial diseases due to complete interleukin 12B deficiency (ORPHA:319558)
Association type: UNKNOWN
Gene: CABP2
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 93 (OMIM:614899)
Association type: MENDELIAN
Gene: CABP2
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: VPS37A
Disease: SPASTIC PARAPLEGIA 53, AUTOSOMAL RECESSIVE (OMIM:614898)
Association type: MENDELIAN
Gene: VPS37A
Disease: Autosomal recessive spastic paraplegia type 53; SPG53 (ORPHA:319199)
Association type: UNKNOWN
Gene: NR4A3
Disease: CHONDROSARCOMA, EXTRASKELETAL MYXOID (OMIM:612237)
Association type: MENDELIAN
Gene: NR4A3
Disease: Extraskeletal myxoid chondrosarcoma (ORPHA:209916)
Association type: UNKNOWN
Gene: TAF15
Disease: CHONDROSARCOMA, EXTRASKELETAL MYXOID (OMIM:612237)
Association type: MENDELIAN
Gene: TAF15
Disease: Extraskeletal myxoid chondrosarcoma (ORPHA:209916)
Association type: UNKNOWN
Gene: TAF15
Disease: Amyotrophic lateral sclerosis; ALS; Charcot disease; Lou Gehrig disease (ORPHA:803)
Association type: UNKNOWN
Gene: GBF1
Disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE A (OMIM:606483)
Association type: MENDELIAN
Gene: NECTIN4
Disease: ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 1 (OMIM:613573)
Association type: MENDELIAN
Gene: NECTIN4
Disease: Ectodermal dysplasia-pili torti-cutaneous syndactyly syndrome (ORPHA:247820)
Association type: UNKNOWN
Gene: IRF5
Disease: INFLAMMATORY BOWEL DISEASE 14 (OMIM:612245)
Association type: POLYGENIC
Gene: IRF5
Disease: SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 10 (OMIM:612251)
Association type: POLYGENIC