TaoMedAI/RareMedData huggingface dataset:
Gene: DSPP
Disease: DENTIN DYSPLASIA, TYPE II (OMIM:125420)
Association type: MENDELIAN
Gene: DSPP
Disease: DENTINOGENESIS IMPERFECTA 1 (OMIM:125490)
Association type: MENDELIAN
Gene: DSPP
Disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Association type: MENDELIAN
Gene: DSPP
Disease: Dentinogenesis imperfecta type 2; Capdepont teeth; DGI-2; DI-2; Dentinogenesis imperfecta, Shields type 2 (ORPHA:166260)
Association type: UNKNOWN
Gene: DSPP
Disease: Dentinogenesis imperfecta type 3; Dentinogenesis imperfecta, Shields type 3 (ORPHA:166265)
Association type: UNKNOWN
Gene: DSPP
Disease: Dentin dysplasia type II; DD-II; DTDP2 (ORPHA:99791)
Association type: UNKNOWN
Gene: DSPP
Disease: Dentin dysplasia type I; DD-I; DTDP1; Radicular dentin dysplasia (ORPHA:99789)
Association type: UNKNOWN
Gene: KIF23
Disease: ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE III (OMIM:105600)
Association type: MENDELIAN
Gene: KIF23
Disease: Congenital dyserythropoietic anemia type III; CDA III; CDA type 3; CDA type III; Congenital dyserythropoietic anemia type 3 (ORPHA:98870)
Association type: UNKNOWN
Gene: SNRPB
Disease: CEREBROCOSTOMANDIBULAR SYNDROME (OMIM:117650)
Association type: MENDELIAN
Gene: SNRPB
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: SNRPB
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: SNRPB
Disease: Cerebrocostomandibular syndrome (ORPHA:1393)
Association type: UNKNOWN
Gene: JAM2
Disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 8, AUTOSOMAL RECESSIVE (OMIM:618824)
Association type: MENDELIAN
Gene: JAM2
Disease: Bilateral striopallidodentate calcinosis; BSPDC; Cerebrovascular ferrocalcinosis; Idiopathic basal ganglia calcification; PFBC; Primary familial brain calcification (ORPHA:1980)
Association type: UNKNOWN
Gene: TRIO
Disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 63, WITH MACROCEPHALY (OMIM:618825)
Association type: MENDELIAN
Gene: TRIO
Disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 44, WITH MICROCEPHALY (OMIM:617061)
Association type: MENDELIAN
Gene: TRIO
Disease: Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome (ORPHA:476126)
Association type: UNKNOWN
Gene: RP1L1
Disease: RETINITIS PIGMENTOSA 88 (OMIM:618826)
Association type: MENDELIAN
Gene: RP1L1
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: RP1L1
Disease: OCCULT MACULAR DYSTROPHY (OMIM:613587)
Association type: MENDELIAN
Gene: RP1L1
Disease: Retinitis pigmentosa (ORPHA:791)
Association type: UNKNOWN
Gene: RP1L1
Disease: Occult macular dystrophy; OCMD; OMD (ORPHA:247834)
Association type: UNKNOWN
Gene: CPSF1
Disease: MYOPIA 27 (OMIM:618827)
Association type: MENDELIAN
Gene: CPSF1
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: PPP1R12A
Disease: GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME (OMIM:618820)
Association type: MENDELIAN
Gene: PKDCC
Disease: RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES (OMIM:618821)
Association type: MENDELIAN
Gene: PKDCC
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: PKDCC
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: FXR1
Disease: MYOPATHY, CONGENITAL, WITH RESPIRATORY INSUFFICIENCY AND BONE FRACTURES (OMIM:618822)
Association type: MENDELIAN
Gene: FXR1
Disease: MYOPATHY, CONGENITAL PROXIMAL, WITH MINICORE LESIONS (OMIM:618823)
Association type: MENDELIAN
Gene: SLC17A8
Disease: DEAFNESS, AUTOSOMAL DOMINANT 25 (OMIM:605583)
Association type: MENDELIAN
Gene: SLC17A8
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: SPOP
Disease: NABAIS SA-DE VRIES SYNDROME, TYPE 1 (OMIM:618828)
Association type: MENDELIAN
Gene: SPOP
Disease: NABAIS SA-DE VRIES SYNDROME, TYPE 2 (OMIM:618829)
Association type: MENDELIAN
Gene: SPOP
Disease: Macrocephaly-congenital heart disease-facial dysmorphism-intellectual disability syndrome; Nabais Sa-de Vries type 2 syndrome (ORPHA:662175)
Association type: UNKNOWN
Gene: SPOP
Disease: Microcephaly-hearing loss-facial dysmorphism-intellectual disability syndrome; Microcephaly-deafness-facial dysmorphism-intellectual disability syndrome; Nabais Sa-de Vries type 1 syndrome (ORPHA:662179)
Association type: UNKNOWN
Gene: TFR2
Disease: HEMOCHROMATOSIS, TYPE 3 (OMIM:604250)
Association type: MENDELIAN
Gene: TFR2
Disease: TFR2-related hemochromatosis; Hereditary hemochromatosis type 3 (ORPHA:225123)
Association type: UNKNOWN
Gene: TFR2
Disease: Digenic hemochromatosis (ORPHA:648581)
Association type: UNKNOWN
Gene: NLGN1
Disease: AUTISM, SUSCEPTIBILITY TO, 20 (OMIM:618830)
Association type: POLYGENIC
Gene: QRSL1
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 40 (OMIM:618835)
Association type: MENDELIAN
Gene: QRSL1
Disease: QRSL1-related combined oxidative phosphorylation defect; QRSL1-related COXPD (ORPHA:570491)
Association type: UNKNOWN
Gene: SPINK5
Disease: NETHERTON SYNDROME (OMIM:256500)
Association type: MENDELIAN
Gene: SPINK5
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: SPINK5
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: SPINK5
Disease: Netherton syndrome; Bamboo hair syndrome; Comèl-Netherton syndrome; NS (ORPHA:634)
Association type: UNKNOWN
Gene: GATB
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 41 (OMIM:618838)
Association type: MENDELIAN
Gene: CCDC88A
Disease: PEHO-LIKE SYNDROME (OMIM:617507)
Association type: MENDELIAN
Gene: CCDC88A
Disease: PEHO-like syndrome (ORPHA:99807)
Association type: UNKNOWN
Gene: SETD1A
Disease: EPILEPSY, EARLY-ONSET, WITH OR WITHOUT DEVELOPMENTAL DELAY (OMIM:618832)
Association type: MENDELIAN
Gene: SETD1A
Disease: NEURODEVELOPMENTAL DISORDER WITH SPEECH IMPAIRMENT AND DYSMORPHIC FACIES (OMIM:619056)
Association type: MENDELIAN
Gene: SETD1A
Disease: Non-specific syndromic intellectual disability; Complex neurodevelopmental disorder (ORPHA:528084)
Association type: UNKNOWN
Gene: GATC
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 42 (OMIM:618839)
Association type: MENDELIAN
Gene: NDNF
Disease: HYPOGONADOTROPIC HYPOGONADISM 25 WITH ANOSMIA (OMIM:618841)
Association type: MENDELIAN
Gene: NDNF
Disease: Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia; Olfacto-genital pathological sequence (ORPHA:478)
Association type: UNKNOWN
Gene: VIM
Disease: CATARACT 30, MULTIPLE TYPES (OMIM:116300)
Association type: MENDELIAN
Gene: VIM
Disease: Pulverulent cataract; Coppock-like cataract; Dusty cataract (ORPHA:98984)
Association type: UNKNOWN
Gene: VIM
Disease: Epithelioid hemangioma; ALHE; Angiolymphoid hyperplasia with eosinophilia; EH (ORPHA:675396)
Association type: UNKNOWN
Gene: KDM3B
Disease: DIETS-JONGMANS SYNDROME (OMIM:618846)
Association type: MENDELIAN
Gene: KDM3B
Disease: KDM3B-related intellectual disability-facial dysmorphism-short stature syndrome; Diets-Jongmans Syndrome (ORPHA:633004)
Association type: UNKNOWN
Gene: LAT
Disease: IMMUNODEFICIENCY 52 (OMIM:617514)
Association type: MENDELIAN
Gene: LAT
Disease: Severe combined immunodeficiency due to LAT deficiency; SCID due to LAT deficiency (ORPHA:504523)
Association type: UNKNOWN
Gene: MRTFA
Disease: IMMUNODEFICIENCY 66 (OMIM:618847)
Association type: MENDELIAN
Gene: MRTFA
Disease: Congenital neutropenia-combined immunodeficiency due to MKL1 deficiency; Congenital neutropenia-CID due to MKL1 deficiency; Congenital neutropenia-combined immunodeficiency due to Megakaryoblastic leukemia 1 deficiency; MKL1-related neutrophil motility defect (ORPHA:619941)
Association type: UNKNOWN
Gene: MRTFA
Disease: Megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13); Megakaryoblastic AML with t(1;22)(p13;q13) (ORPHA:402023)
Association type: UNKNOWN
Gene: POPDC3
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 26 (OMIM:618848)
Association type: MENDELIAN
Gene: MDM4
Disease: BONE MARROW FAILURE SYNDROME 6 (OMIM:618849)
Association type: MENDELIAN
Gene: PSMD12
Disease: STANKIEWICZ-ISIDOR SYNDROME (OMIM:617516)
Association type: MENDELIAN
Gene: PSMD12
Disease: 17q24.2 microdeletion syndrome; Del(17)(q24) (ORPHA:529962)
Association type: UNKNOWN
Gene: PSMD12
Disease: Non-specific syndromic intellectual disability; Complex neurodevelopmental disorder (ORPHA:528084)
Association type: UNKNOWN
Gene: NADSYN1
Disease: VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 3 (OMIM:618845)
Association type: MENDELIAN
Gene: NADSYN1
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: NADSYN1
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: NADSYN1
Disease: Congenital vertebral-cardiac-renal anomalies syndrome; Congenital NAD deficiency disorder (ORPHA:521438)
Association type: UNKNOWN
Gene: ELMO2
Disease: VASCULAR MALFORMATION, PRIMARY INTRAOSSEOUS (OMIM:606893)
Association type: MENDELIAN
Gene: ELMO2
Disease: Ramon syndrome; Cherubism-gingival fibromatosis-intellectual disability syndrome (ORPHA:3019)
Association type: UNKNOWN
Gene: ELMO2
Disease: Primary intraosseous venous malformation; Intraosseous hemangioma; Osseous venous malformation (ORPHA:140436)
Association type: UNKNOWN
Gene: SPATA7
Disease: LEBER CONGENITAL AMAUROSIS 3 (OMIM:604232)
Association type: MENDELIAN
Gene: SPATA7
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: SPATA7
Disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Association type: UNKNOWN
Gene: SPATA7
Disease: Retinitis pigmentosa (ORPHA:791)
Association type: UNKNOWN
Gene: SPATA7
Disease: Severe early-childhood-onset retinal dystrophy; EOSRD; Early-onset severe retinal dystrophy; SECORD (ORPHA:364055)
Association type: UNKNOWN
Gene: SPTBN4
Disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEUROPATHY, AND DEAFNESS (OMIM:617519)
Association type: MENDELIAN
Gene: RPS19
Disease: DIAMOND-BLACKFAN ANEMIA 1 (OMIM:105650)
Association type: MENDELIAN
Gene: RPS19
Disease: Diamond-Blackfan anemia; Congenital PRCA; Congenital pure red cell aplasia; Diamond-Blackfan anemia syndrome (ORPHA:124)
Association type: UNKNOWN
Gene: PSEN2
Disease: ALZHEIMER DISEASE 4 (OMIM:606889)
Association type: MENDELIAN
Gene: PSEN2
Disease: CARDIOMYOPATHY, DILATED, 1V (OMIM:613697)
Association type: MENDELIAN
Gene: PSEN2
Disease: Familial isolated dilated cardiomyopathy; Familial or idiopathic dilated cardiomyopathy (ORPHA:154)
Association type: UNKNOWN
Gene: PSEN2
Disease: Early-onset autosomal dominant Alzheimer disease; EOFAD; Early-onset familial autosomal dominant Alzheimer disease; Familial Alzheimer disease (ORPHA:1020)
Association type: UNKNOWN
Gene: BCAT2
Disease: HYPERVALINEMIA AND HYPERLEUCINE-ISOLEUCINEMIA (OMIM:618850)
Association type: MENDELIAN
Gene: TIMM22
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 43 (OMIM:618851)
Association type: MENDELIAN
Gene: RIPK1
Disease: AUTOINFLAMMATION WITH EPISODIC FEVER AND LYMPHADENOPATHY (OMIM:618852)
Association type: MENDELIAN
Gene: RIPK1
Disease: IMMUNODEFICIENCY 57 WITH AUTOINFLAMMATION (OMIM:618108)
Association type: MENDELIAN
Gene: RIPK1
Disease: Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome (ORPHA:529977)
Association type: UNKNOWN
Gene: WDFY3
Disease: MICROCEPHALY 18, PRIMARY, AUTOSOMAL DOMINANT (OMIM:617520)
Association type: MENDELIAN
Gene: WDFY3
Disease: Non-specific syndromic intellectual disability; Complex neurodevelopmental disorder (ORPHA:528084)
Association type: UNKNOWN
Gene: GP9
Disease: BERNARD-SOULIER SYNDROME (OMIM:231200)
Association type: MENDELIAN
Gene: GP9
Disease: Bernard-Soulier syndrome; Giant platelet syndrome; Hemorrhagiparous thrombocytic dystrophy (ORPHA:274)
Association type: UNKNOWN
Gene: GP1BA
Disease: BERNARD-SOULIER SYNDROME (OMIM:231200)
Association type: MENDELIAN
Gene: GP1BA
Disease: BERNARD-SOULIER SYNDROME, TYPE A2, AUTOSOMAL DOMINANT (OMIM:153670)
Association type: MENDELIAN
Gene: GP1BA
Disease: PSEUDO-VON WILLEBRAND DISEASE (OMIM:177820)
Association type: MENDELIAN
Gene: GP1BA
Disease: NONARTERITIC ANTERIOR ISCHEMIC OPTIC NEUROPATHY, SUSCEPTIBILITY TO (OMIM:258660)
Association type: POLYGENIC
Gene: GP1BA
Disease: Bernard-Soulier syndrome; Giant platelet syndrome; Hemorrhagiparous thrombocytic dystrophy (ORPHA:274)
Association type: UNKNOWN
Gene: GP1BA
Disease: Pseudo-von Willebrand disease; PT-VWD; Platelet type-von Willebrand disease; Pseudo-von Willebrand disease type 2B (ORPHA:52530)
Association type: UNKNOWN
Gene: GP1BA
Disease: Fetal and neonatal alloimmune thrombocytopenia; FNAIT; NAIT (ORPHA:853)
Association type: UNKNOWN
Gene: GP1BA
Disease: Autosomal dominant macrothrombocytopenia (ORPHA:140957)
Association type: UNKNOWN
Gene: GP1BB
Disease: BERNARD-SOULIER SYNDROME (OMIM:231200)
Association type: MENDELIAN
Gene: GP1BB
Disease: Bernard-Soulier syndrome; Giant platelet syndrome; Hemorrhagiparous thrombocytic dystrophy (ORPHA:274)
Association type: UNKNOWN
Gene: GP1BB
Disease: Fetal and neonatal alloimmune thrombocytopenia; FNAIT; NAIT (ORPHA:853)
Association type: UNKNOWN
Gene: GP1BB
Disease: Autosomal dominant macrothrombocytopenia (ORPHA:140957)
Association type: UNKNOWN
Gene: GP1BB
Disease: 22q11.2 deletion syndrome; 22q11DS; CATCH 22; Cayler cardiofacial syndrome; Conotruncal anomaly face syndrome; DiGeorge sequence; DiGeorge syndrome; Microdeletion 22q11.2; Monosomy 22q11; Sedlackova syndrome; Shprintzen syndrome; Takao syndrome; Velocardiofacial syndrome (ORPHA:567)
Association type: UNKNOWN
Gene: GJB4
Disease: ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 2 (OMIM:617524)
Association type: MENDELIAN
Gene: GJB4
Disease: Erythrokeratodermia variabilis; EKV; Erythrokeratodermia variabilis, Mendes da Costa type (ORPHA:317)
Association type: UNKNOWN
Gene: NOVA2
Disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT AUTISTIC FEATURES AND/OR STRUCTURAL BRAIN ABNORMALITIES (OMIM:618859)
Association type: MENDELIAN
Gene: NOVA2
Disease: Non-specific syndromic intellectual disability; Complex neurodevelopmental disorder (ORPHA:528084)
Association type: UNKNOWN
Gene: ARHGEF2
Disease: NEURODEVELOPMENTAL DISORDER WITH MIDBRAIN AND HINDBRAIN MALFORMATIONS (OMIM:617523)
Association type: MENDELIAN
Gene: RMP64
Disease: ANAUXETIC DYSPLASIA 3 (OMIM:618853)
Association type: MENDELIAN
Gene: RMP64
Disease: Anauxetic dysplasia; Spondyloepimetaphyseal dysplasia, Menger type; Spondyloepimetaphyseal dysplasia, anauxetic type (ORPHA:93347)
Association type: UNKNOWN
Gene: FASTKD2
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 44 (OMIM:618855)
Association type: MENDELIAN
Gene: FASTKD2
Disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Association type: MENDELIAN
Gene: FASTKD2
Disease: FASTKD2-related infantile mitochondrial encephalomyopathy (ORPHA:166105)
Association type: UNKNOWN
Gene: PLAA
Disease: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES (OMIM:617527)
Association type: MENDELIAN
Gene: PLAA
Disease: PLAA-associated neurodevelopmental disorder; PLAAND (ORPHA:521426)
Association type: UNKNOWN
Gene: KDSR
Disease: ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 4 (OMIM:617526)
Association type: MENDELIAN
Gene: KDSR
Disease: Erythrokeratodermia variabilis; EKV; Erythrokeratodermia variabilis, Mendes da Costa type (ORPHA:317)
Association type: UNKNOWN
Gene: KDSR
Disease: Progressive symmetric erythrokeratodermia; Darier-Gottron disease; Erythrokeratodermia progressiva symmetrica; Progressive symmetric erythrokeratodermia, Gottron type (ORPHA:316)
Association type: UNKNOWN
Gene: SAMD12
Disease: EPILEPSY, FAMILIAL ADULT MYOCLONIC, 1 (OMIM:601068)
Association type: MENDELIAN
Gene: SAMD12
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: DHCR24
Disease: DESMOSTEROLOSIS (OMIM:602398)
Association type: MENDELIAN
Gene: DHCR24
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: DHCR24
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: DHCR24
Disease: Desmosterolosis (ORPHA:35107)
Association type: UNKNOWN
Gene: PCDH15
Disease: USHER SYNDROME, TYPE ID (OMIM:601067)
Association type: MENDELIAN
Gene: PCDH15
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 23 (OMIM:609533)
Association type: MENDELIAN
Gene: PCDH15
Disease: USHER SYNDROME, TYPE IF (OMIM:602083)
Association type: MENDELIAN
Gene: PCDH15
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: PCDH15
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: PCDH15
Disease: Usher syndrome type 1; USH1 (ORPHA:231169)
Association type: UNKNOWN
Gene: POLR3B
Disease: LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM (OMIM:614381)
Association type: MENDELIAN
Gene: POLR3B
Disease: LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM (OMIM:607694)
Association type: MENDELIAN
Gene: POLR3B
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: POLR3B
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: POLR3B
Disease: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1I (OMIM:619742)
Association type: MENDELIAN
Gene: POLR3B
Disease: Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome; 4H syndrome (ORPHA:88637)
Association type: UNKNOWN
Gene: POLR3B
Disease: Endosteal sclerosis-cerebellar hypoplasia syndrome (ORPHA:85186)
Association type: UNKNOWN
Gene: TIRAP
Disease: BACTEREMIA, SUSCEPTIBILITY TO, 1 (OMIM:614382)
Association type: POLYGENIC
Gene: TIRAP
Disease: MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO (OMIM:607948)
Association type: POLYGENIC
Gene: TIRAP
Disease: MALARIA, SUSCEPTIBILITY TO (OMIM:611162)
Association type: POLYGENIC
Gene: C4A
Disease: COMPLEMENT COMPONENT 4A DEFICIENCY (OMIM:614380)
Association type: MENDELIAN
Gene: C4A
Disease: BLOOD GROUP, CHIDO/RODGERS SYSTEM (OMIM:614374)
Association type: MENDELIAN
Gene: C4A
Disease: Autosomal systemic lupus erythematosus; Autosomal SLE; Familial SLE; Familial systemic lupus erythematosus (ORPHA:300345)
Association type: UNKNOWN
Gene: C4A
Disease: Behçet disease (ORPHA:117)
Association type: UNKNOWN
Gene: C4A
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: C4A
Disease: Systemic lupus erythematosus; Disseminated lupus erythematosus; SLE (ORPHA:536)
Association type: UNKNOWN
Gene: CISH
Disease: BACTEREMIA, SUSCEPTIBILITY TO, 2 (OMIM:614383)
Association type: POLYGENIC
Gene: CISH
Disease: MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO (OMIM:607948)
Association type: POLYGENIC
Gene: CISH
Disease: MALARIA, SUSCEPTIBILITY TO (OMIM:611162)
Association type: POLYGENIC
Gene: ZFHX3
Disease: ATRIAL FIBRILLATION, FAMILIAL, 8 (OMIM:613055)
Association type: POLYGENIC
Gene: ZFHX3
Disease: PROSTATE CANCER (OMIM:176807)
Association type: MENDELIAN
Gene: ZFHX3
Disease: SPINOCEREBELLAR ATAXIA 4 (OMIM:600223)
Association type: MENDELIAN
Gene: DNM1L
Disease: ENCEPHALOPATHY DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 1 (OMIM:614388)
Association type: MENDELIAN
Gene: DNM1L
Disease: OPTIC ATROPHY 5 (OMIM:610708)
Association type: MENDELIAN
Gene: DNM1L
Disease: DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect (ORPHA:330050)
Association type: UNKNOWN
Gene: DNM1L
Disease: Autosomal dominant optic atrophy, classic form; Autosomal dominant optic atrophy, Kjer type; Kjer optic atrophy; Optic atrophy type 1 (ORPHA:98673)
Association type: UNKNOWN
Gene: TFAP2B
Disease: CHAR SYNDROME (OMIM:169100)
Association type: MENDELIAN
Gene: TFAP2B
Disease: PATENT DUCTUS ARTERIOSUS 2 (OMIM:617035)
Association type: MENDELIAN
Gene: TFAP2B
Disease: TETRALOGY OF FALLOT (OMIM:187500)
Association type: MENDELIAN
Gene: TFAP2B
Disease: Char syndrome; Patent ductus arteriosus with facial dysmorphism and abnormal fifth digits (ORPHA:46627)
Association type: UNKNOWN
Gene: TFAP2B
Disease: Familial patent arterial duct (ORPHA:466729)
Association type: UNKNOWN
Gene: HJV
Disease: HEMOCHROMATOSIS, TYPE 2A (OMIM:602390)
Association type: MENDELIAN
Gene: HJV
Disease: Digenic hemochromatosis (ORPHA:648581)
Association type: UNKNOWN
Gene: HJV
Disease: HJV or HAMP-related hemochromatosis; Hemochromatosis type 2; Juvenile hemochromatosis (ORPHA:79230)
Association type: UNKNOWN
Gene: GABRD
Disease: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 10 (OMIM:613060)
Association type: POLYGENIC
Gene: GABRD
Disease: Juvenile myoclonic epilepsy; JME; Juvenile myoclonus epilepsy (ORPHA:307)
Association type: UNKNOWN
Gene: GABRD
Disease: Genetic epilepsy with febrile seizure plus; GEFS+; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Association type: UNKNOWN
Gene: GABRD
Disease: 1p36 deletion syndrome; Del(1)(p36); Deletion 1p36; Deletion 1pter; Monosomy 1p36; Monosomy 1pter; Subtelomeric 1p36 deletion (ORPHA:1606)
Association type: UNKNOWN
Gene: ANXA5
Disease: PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 3 (OMIM:614391)
Association type: POLYGENIC
Gene: GNB1
Disease: LEUKEMIA, ACUTE LYMPHOBLASTIC (OMIM:613065)
Association type: MENDELIAN
Gene: GNB1
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 42 (OMIM:616973)
Association type: MENDELIAN
Gene: GNB1
Disease: MYELODYSPLASTIC SYNDROME (OMIM:614286)
Association type: MENDELIAN
Gene: GNB1
Disease: Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome (ORPHA:488613)
Association type: UNKNOWN
Gene: TAL1
Disease: LEUKEMIA, ACUTE LYMPHOBLASTIC (OMIM:613065)
Association type: MENDELIAN
Gene: TAL1
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: TAL2
Disease: LEUKEMIA, ACUTE LYMPHOBLASTIC (OMIM:613065)
Association type: MENDELIAN
Gene: BAX
Disease: LEUKEMIA, ACUTE LYMPHOBLASTIC (OMIM:613065)
Association type: MENDELIAN
Gene: BAX
Disease: COLORECTAL CANCER (OMIM:114500)
Association type: MENDELIAN
Gene: FLT3
Disease: LEUKEMIA, ACUTE LYMPHOBLASTIC (OMIM:613065)
Association type: MENDELIAN
Gene: FLT3
Disease: LEUKEMIA, ACUTE MYELOID (OMIM:601626)
Association type: MENDELIAN
Gene: FLT3
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: FLT3
Disease: B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2); B-ALL with t(9;22)(q34.1;q11.2); BCR-ABL1-like B-ALL; Philadelphia chromosome-like B-ALL (ORPHA:585909)
Association type: UNKNOWN
Gene: FLT3
Disease: Acute myeloblastic leukemia without maturation; AML M1; Acute myeloblastic leukemia M1 (ORPHA:98833)
Association type: UNKNOWN