TaoMedAI/RareMedData huggingface dataset:
Gene: RINT1
Disease: Fever-associated acute infantile liver failure syndrome (ORPHA:464724)
Association type: UNKNOWN
Gene: DNAH17
Disease: SPERMATOGENIC FAILURE 39 (OMIM:618643)
Association type: MENDELIAN
Gene: DNAH17
Disease: Non-syndromic male infertility due to sperm motility disorder; Non-syndromic male infertility due asthenozoospermia (ORPHA:276234)
Association type: UNKNOWN
Gene: IRF9
Disease: IMMUNODEFICIENCY 65, SUSCEPTIBILITY TO VIRAL INFECTIONS (OMIM:618648)
Association type: MENDELIAN
Gene: KLF1
Disease:  (OMIM:620969)
Association type: MENDELIAN
Gene: KLF1
Disease: BLOOD GROUP--LUTHERAN INHIBITOR (OMIM:111150)
Association type: MENDELIAN
Gene: KLF1
Disease: ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE IV (OMIM:613673)
Association type: MENDELIAN
Gene: KLF1
Disease: FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 6 (OMIM:613566)
Association type: MENDELIAN
Gene: KLF1
Disease: Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome; HPFH-beta-thalassemia syndrome (ORPHA:46532)
Association type: UNKNOWN
Gene: KLF1
Disease: Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome; HPFH-sickle cell disease syndrome (ORPHA:251380)
Association type: UNKNOWN
Gene: KLF1
Disease: Congenital dyserythropoietic anemia type IV; CDA IV; CDA due to KLF1 mutation; CDA type 4; CDA type IV; CDAN4; Congenital dyserythropoietic anemia due to KLF1 mutation; Congenital dyserythropoietic anemia type 4 (ORPHA:293825)
Association type: UNKNOWN
Gene: JPH1
Disease:  (OMIM:620964)
Association type: MENDELIAN
Gene: JPH1
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2K (OMIM:607831)
Association type: POLYGENIC
Gene: CPAMD8
Disease: ANTERIOR SEGMENT DYSGENESIS 8 (OMIM:617319)
Association type: MENDELIAN
Gene: CPAMD8
Disease: Autosomal recessive anterior segment dysgenesis (ORPHA:519388)
Association type: UNKNOWN
Gene: PSKH1
Disease:  (OMIM:620962)
Association type: MENDELIAN
Gene: CLEC3B
Disease: MACULAR DYSTROPHY, RETINAL, 4 (OMIM:619977)
Association type: MENDELIAN
Gene: GSX2
Disease: DIENCEPHALIC-MESENCEPHALIC JUNCTION DYSPLASIA SYNDROME 2 (OMIM:618646)
Association type: MENDELIAN
Gene: GSX2
Disease: Diencephalic-mesencephalic junction dysplasia (ORPHA:319192)
Association type: UNKNOWN
Gene: CIAO1
Disease:  (OMIM:620960)
Association type: MENDELIAN
Gene: SGCG
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 5 (OMIM:253700)
Association type: MENDELIAN
Gene: SGCG
Disease: Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5; Autosomal recessive limb-girdle muscular dystrophy type 2C; Gamma-sarcoglycan-related LGMD R5; Gamma-sarcoglycanopathy; LGMD due to gamma-sarcoglycan deficiency; LGMD type 2C; LGMD2C; Limb-girdle muscular dystrophy due to gamma-sarcoglycan deficiency; Limb-girdle muscular dystrophy type 2C (ORPHA:353)
Association type: UNKNOWN
Gene: CSTA
Disease: PEELING SKIN SYNDROME 4 (OMIM:607936)
Association type: MENDELIAN
Gene: CSTA
Disease: Acral peeling skin syndrome; Acral PSS; Localized PSS; PSS 2; Peeling skin syndrome 2 (ORPHA:263534)
Association type: UNKNOWN
Gene: CSTA
Disease: Exfoliative ichthyosis; Autosomal recessive exfoliative ichthyosis; Ichthyosis exfoliativa (ORPHA:289586)
Association type: UNKNOWN
Gene: SEC31A
Disease: NEURODEVELOPMENTAL DISORDER WITH SPASTIC QUADRIPLEGIA, OPTIC ATROPHY, SEIZURES, AND STRUCTURAL BRAIN ANOMALIES (OMIM:618651)
Association type: MENDELIAN
Gene: HID1
Disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 105 WITH HYPOPITUITARISM (OMIM:619983)
Association type: MENDELIAN
Gene: WDR37
Disease: NEUROOCULOCARDIOGENITOURINARY SYNDROME (OMIM:618652)
Association type: MENDELIAN
Gene: WDR37
Disease: NOCGUS syndrome; Neuro-oculo-cardio-genito-urinary syndrome; Neurooculocardiogenitourinary syndrome (ORPHA:684305)
Association type: UNKNOWN
Gene: DDX6
Disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES (OMIM:618653)
Association type: MENDELIAN
Gene: DDX6
Disease: Non-specific syndromic intellectual disability; Complex neurodevelopmental disorder (ORPHA:528084)
Association type: UNKNOWN
Gene: C18orf32
Disease: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 25 (OMIM:619985)
Association type: MENDELIAN
Gene: IMPA1
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 59 (OMIM:617323)
Association type: MENDELIAN
Gene: IMPA1
Disease: Autosomal recessive non-syndromic intellectual disability; AR-NSID; NS-ARID (ORPHA:88616)
Association type: UNKNOWN
Gene: KIF15
Disease: BRADDOCK-CAREY SYNDROME 2 (OMIM:619981)
Association type: MENDELIAN
Gene: KIF15
Disease: 21q22.11q22.12 microdeletion syndrome; Del(21)(q22.11q22.12); Monosomy 21q22.11q22.12 (ORPHA:261323)
Association type: UNKNOWN
Gene: CASP14
Disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 12 (OMIM:617320)
Association type: MENDELIAN
Gene: ZMIZ1
Disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES (OMIM:618659)
Association type: MENDELIAN
Gene: ZMIZ1
Disease: Non-specific syndromic intellectual disability; Complex neurodevelopmental disorder (ORPHA:528084)
Association type: UNKNOWN
Gene: MAL
Disease:  (OMIM:620978)
Association type: MENDELIAN
Gene: MAL
Disease: Pelizaeus-Merzbacher-like disease; PMLD (ORPHA:280270)
Association type: UNKNOWN
Gene: THUMPD1
Disease: NEURODEVELOPMENTAL DISORDER WITH SPEECH DELAY AND VARIABLE OCULAR ANOMALIES (OMIM:619989)
Association type: MENDELIAN
Gene: KCNN3
Disease: ZIMMERMANN-LABAND SYNDROME 3 (OMIM:618658)
Association type: MENDELIAN
Gene: KCNN3
Disease: Zimmermann-Laband syndrome; Gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome; Laband syndrome (ORPHA:3473)
Association type: UNKNOWN
Gene: PERCC1
Disease: DIARRHEA 11, MALABSORPTIVE, CONGENITAL (OMIM:618662)
Association type: MENDELIAN
Gene: PERCC1
Disease: Congenital tufting enteropathy; IED; Intestinal epithelial dysplasia; Non-syndromic congenital tufting enteropathy (ORPHA:92050)
Association type: UNKNOWN
Gene: EBF3
Disease: HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME (OMIM:617330)
Association type: MENDELIAN
Gene: EBF3
Disease: Distal deletion 10q syndrome; Deletion 10qter; Distal monosomy 10q; Monosomy 10qter; Telomeric deletion 10q (ORPHA:96148)
Association type: UNKNOWN
Gene: EBF3
Disease: Developmental delay-ataxia-hypotonia-facial dysmorphism syndrome (ORPHA:658843)
Association type: UNKNOWN
Gene: CFAP65
Disease: SPERMATOGENIC FAILURE 40 (OMIM:618664)
Association type: MENDELIAN
Gene: CFAP65
Disease: Non-syndromic male infertility due to sperm motility disorder; Non-syndromic male infertility due asthenozoospermia (ORPHA:276234)
Association type: UNKNOWN
Gene: METTL5
Disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 72 (OMIM:618665)
Association type: MENDELIAN
Gene: METTL5
Disease: Autosomal recessive primary microcephaly; MCPH; Microcephalia vera; Microcephaly vera; True microcephaly (ORPHA:2512)
Association type: UNKNOWN
Gene: BRPF1
Disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND PTOSIS (OMIM:617333)
Association type: MENDELIAN
Gene: BRPF1
Disease: 3p25.3 microdeletion syndrome; Del(3)p(25.3); Intellectual disability-epilepsy-stereotypic hand movement syndrome; Monosomy 3p25.3 (ORPHA:435638)
Association type: UNKNOWN
Gene: BRPF1
Disease:  (ORPHA:698090)
Association type: UNKNOWN
Gene: FOCAD
Disease: LIVER DISEASE, SEVERE CONGENITAL (OMIM:619991)
Association type: MENDELIAN
Gene: GSR
Disease: HEMOLYTIC ANEMIA DUE TO GLUTATHIONE REDUCTASE DEFICIENCY (OMIM:618660)
Association type: MENDELIAN
Gene: GSR
Disease: Hemolytic anemia due to glutathione reductase deficiency (ORPHA:90030)
Association type: UNKNOWN
Gene: PTPRF
Disease: BREASTS AND/OR NIPPLES, APLASIA OR HYPOPLASIA OF, 2 (OMIM:616001)
Association type: MENDELIAN
Gene: PTPRF
Disease: Isolated congenital breast hypoplasia/aplasia; Isolated congenital amastia (ORPHA:180188)
Association type: UNKNOWN
Gene: KDF1
Disease: ECTODERMAL DYSPLASIA 12, HYPOHIDROTIC/HAIR/TOOTH/NAIL TYPE (OMIM:617337)
Association type: MENDELIAN
Gene: KDF1
Disease: Autosomal dominant hypohidrotic ectodermal dysplasia; AD-HED; Autosomal dominant anhidrotic ectodermal dysplasia (ORPHA:1810)
Association type: UNKNOWN
Gene: DHX9
Disease:  (OMIM:620988)
Association type: MENDELIAN
Gene: FGG
Disease: DYSFIBRINOGENEMIA, CONGENITAL (OMIM:616004)
Association type: MENDELIAN
Gene: FGG
Disease: AFIBRINOGENEMIA, CONGENITAL (OMIM:202400)
Association type: MENDELIAN
Gene: FGG
Disease: Familial hypofibrinogenemia (ORPHA:101041)
Association type: UNKNOWN
Gene: FGG
Disease: Familial afibrinogenemia (ORPHA:98880)
Association type: UNKNOWN
Gene: FGG
Disease: Familial dysfibrinogenemia (ORPHA:98881)
Association type: UNKNOWN
Gene: FGG
Disease: Familial hypodysfibrinogenemia (ORPHA:248408)
Association type: UNKNOWN
Gene: FGA
Disease: DYSFIBRINOGENEMIA, CONGENITAL (OMIM:616004)
Association type: MENDELIAN
Gene: FGA
Disease: AFIBRINOGENEMIA, CONGENITAL (OMIM:202400)
Association type: MENDELIAN
Gene: FGA
Disease: AMYLOIDOSIS, FAMILIAL VISCERAL (OMIM:105200)
Association type: MENDELIAN
Gene: FGA
Disease: Familial hypofibrinogenemia (ORPHA:101041)
Association type: UNKNOWN
Gene: FGA
Disease: Familial afibrinogenemia (ORPHA:98880)
Association type: UNKNOWN
Gene: FGA
Disease: Familial dysfibrinogenemia (ORPHA:98881)
Association type: UNKNOWN
Gene: FGA
Disease: Familial hypodysfibrinogenemia (ORPHA:248408)
Association type: UNKNOWN
Gene: FGA
Disease: AFib amyloidosis; Familial amyloid nephropathy due to fibrinogen A alpha-chain variant; Fibrinogen A alpha-chain amyloidosis; Hereditary amyloid nephropathy due to fibrinogen A alpha-chain variant; Hereditary renal amyloidosis due to fibrinogen A alpha-chain variant (ORPHA:93562)
Association type: UNKNOWN
Gene: FGB
Disease: DYSFIBRINOGENEMIA, CONGENITAL (OMIM:616004)
Association type: MENDELIAN
Gene: FGB
Disease: AFIBRINOGENEMIA, CONGENITAL (OMIM:202400)
Association type: MENDELIAN
Gene: FGB
Disease: Familial hypofibrinogenemia (ORPHA:101041)
Association type: UNKNOWN
Gene: FGB
Disease: Familial afibrinogenemia (ORPHA:98880)
Association type: UNKNOWN
Gene: FGB
Disease: Familial dysfibrinogenemia (ORPHA:98881)
Association type: UNKNOWN
Gene: FGB
Disease: Familial hypodysfibrinogenemia (ORPHA:248408)
Association type: UNKNOWN
Gene: ABCG5
Disease: SITOSTEROLEMIA 2 (OMIM:618666)
Association type: MENDELIAN
Gene: ABCG5
Disease: Sitosterolemia; Phytosterolemia (ORPHA:2882)
Association type: UNKNOWN
Gene: ABCG5
Disease: Homozygous familial hypercholesterolemia; HoFH (ORPHA:391665)
Association type: UNKNOWN
Gene: BORCS8
Disease:  (OMIM:620987)
Association type: MENDELIAN
Gene: TRIM71
Disease: HYDROCEPHALUS, CONGENITAL COMMUNICATING, 1 (OMIM:618667)
Association type: MENDELIAN
Gene: TRIM71
Disease: Congenital communicating hydrocephalus; Congenital non-obstructive hydrocephalus (ORPHA:269505)
Association type: UNKNOWN
Gene: WFDC2
Disease:  (OMIM:620984)
Association type: MENDELIAN
Gene: MSL2
Disease:  (OMIM:620985)
Association type: MENDELIAN
Gene: MSL2
Disease: Non-specific syndromic intellectual disability; Complex neurodevelopmental disorder (ORPHA:528084)
Association type: UNKNOWN
Gene: MDH2
Disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 51 (OMIM:617339)
Association type: MENDELIAN
Gene: MDH2
Disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Association type: UNKNOWN
Gene: COPG1
Disease:  (OMIM:620983)
Association type: MENDELIAN
Gene: MMAA
Disease: METHYLMALONIC ACIDURIA, cblA TYPE (OMIM:251100)
Association type: MENDELIAN
Gene: MMAA
Disease: Vitamin B12-responsive methylmalonic acidemia type cblA; Vitamin B12-responsive methylmalonic aciduria type cblA (ORPHA:79310)
Association type: UNKNOWN
Gene: STN1
Disease: CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 2 (OMIM:617341)
Association type: MENDELIAN
Gene: STN1
Disease: Idiopathic pulmonary fibrosis; IPF (ORPHA:2032)
Association type: UNKNOWN
Gene: STN1
Disease: Coats plus syndrome; CRMCC; Cerebroretinal microangiopathy with calcifications and cysts (ORPHA:313838)
Association type: UNKNOWN
Gene: ZCCHC8
Disease: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 5 (OMIM:618674)
Association type: MENDELIAN
Gene: CFAP70
Disease: SPERMATOGENIC FAILURE 41 (OMIM:618670)
Association type: MENDELIAN
Gene: CFAP70
Disease: Non-syndromic male infertility due to sperm motility disorder; Non-syndromic male infertility due asthenozoospermia (ORPHA:276234)
Association type: UNKNOWN
Gene: CNOT3
Disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES (OMIM:618672)
Association type: MENDELIAN
Gene: CNOT3
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: CNOT3
Disease: Non-specific syndromic intellectual disability; Complex neurodevelopmental disorder (ORPHA:528084)
Association type: UNKNOWN
Gene: ZNF862
Disease:  (OMIM:620999)
Association type: MENDELIAN
Gene: ZNF808
Disease:  (OMIM:620991)
Association type: MENDELIAN
Gene: DSG4
Disease: HYPOTRICHOSIS 6 (OMIM:607903)
Association type: MENDELIAN
Gene: DSG4
Disease: Hypotrichosis simplex; Hereditary hypotrichosis simplex (ORPHA:55654)
Association type: UNKNOWN
Gene: DSG4
Disease: Monilethrix; Moniliform hair syndrome (ORPHA:573)
Association type: UNKNOWN
Gene: IQSEC1
Disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE AND BEHAVIORAL ABNORMALITIES (OMIM:618687)
Association type: MENDELIAN
Gene: IQSEC1
Disease: Autosomal recessive non-syndromic intellectual disability; AR-NSID; NS-ARID (ORPHA:88616)
Association type: UNKNOWN
Gene: RABL3
Disease: PANCREATIC CANCER, SUSCEPTIBILITY TO, 5 (OMIM:618680)
Association type: POLYGENIC
Gene: RABL3
Disease: Familial pancreatic carcinoma; Familial pancreatic cancer (ORPHA:1333)
Association type: UNKNOWN
Gene: PIGW
Disease: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 11 (OMIM:616025)
Association type: MENDELIAN
Gene: PIGW
Disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Association type: UNKNOWN
Gene: PIGW
Disease: Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency; Congenital disorder of glycosylation due to PIGM deficiency; PIGM-CDG (ORPHA:83639)
Association type: UNKNOWN
Gene: ATP5MK
Disease: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 6 (OMIM:618683)
Association type: MENDELIAN
Gene: ATP5MK
Disease: Isolated ATP synthase deficiency; Isolated mitochondrial respiratory chain complex V deficiency (ORPHA:254913)
Association type: UNKNOWN
Gene: JAGN1
Disease: NEUTROPENIA, SEVERE CONGENITAL, 6, AUTOSOMAL RECESSIVE (OMIM:616022)
Association type: MENDELIAN
Gene: JAGN1
Disease: Severe congenital neutropenia due to JAGN1 deficiency; SCN due to JAGN1 deficiency; Severe congenital neutropenia due to jagunal homolog 1 deficiency (ORPHA:423384)
Association type: UNKNOWN
Gene: ACHE
Disease: YT BLOOD GROUP ANTIGEN (OMIM:112100)
Association type: MENDELIAN
Gene: TMEM63A
Disease: LEUKODYSTROPHY, HYPOMYELINATING, 19, TRANSIENT INFANTILE (OMIM:618688)
Association type: MENDELIAN
Gene: MCIDAS
Disease: CILIARY DYSKINESIA, PRIMARY, 42 (OMIM:618695)
Association type: MENDELIAN
Gene: MCIDAS
Disease: Primary ciliary dyskinesia; PCD (ORPHA:244)
Association type: UNKNOWN
Gene: ANLN
Disease: FOCAL SEGMENTAL GLOMERULOSCLEROSIS 8 (OMIM:616032)
Association type: MENDELIAN
Gene: ANLN
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: CDK13
Disease: CONGENITAL HEART DEFECTS, DYSMORPHIC FACIAL FEATURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER (OMIM:617360)
Association type: MENDELIAN
Gene: CDK13
Disease: CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome; CDK13-related disorder (ORPHA:646278)
Association type: UNKNOWN
Gene: NADK2
Disease: 2,4-DIENOYL-CoA REDUCTASE DEFICIENCY (OMIM:616034)
Association type: MENDELIAN
Gene: NADK2
Disease: Progressive encephalopathy with leukodystrophy due to DECR deficiency; 2,4-dienoyl-CoA reductase deficiency; DECR deficiency with hyperlysinemia (ORPHA:431361)
Association type: UNKNOWN
Gene: TRMT10A
Disease: MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 1 (OMIM:616033)
Association type: MENDELIAN
Gene: TRMT10A
Disease: Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome (ORPHA:391408)
Association type: UNKNOWN
Gene: COX6A1
Disease: CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE D (OMIM:616039)
Association type: MENDELIAN
Gene: COX6A1
Disease: Autosomal recessive intermediate Charcot-Marie-Tooth disease type D; RI-CMT type D (ORPHA:435998)
Association type: UNKNOWN
Gene: ODAD3
Disease: CILIARY DYSKINESIA, PRIMARY, 30 (OMIM:616037)
Association type: MENDELIAN
Gene: ODAD3
Disease: Primary ciliary dyskinesia; PCD (ORPHA:244)
Association type: UNKNOWN
Gene: AP1S2
Disease: PETTIGREW SYNDROME (OMIM:304340)
Association type: MENDELIAN
Gene: AP1S2
Disease: Fried syndrome (ORPHA:85335)
Association type: UNKNOWN
Gene: AP1S2
Disease: X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome (ORPHA:85329)
Association type: UNKNOWN
Gene: AP1S2
Disease: X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome; Pettigrew Syndrome (ORPHA:1568)
Association type: UNKNOWN
Gene: PEX3
Disease: PEROXISOME BIOGENESIS DISORDER 10B (OMIM:617370)
Association type: MENDELIAN
Gene: PEX3
Disease: PEROXISOME BIOGENESIS DISORDER 10A (ZELLWEGER) (OMIM:614882)
Association type: MENDELIAN
Gene: PEX3
Disease: Neonatal adrenoleukodystrophy; Intermediate PBD-ZSD; Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder; NALD (ORPHA:44)
Association type: UNKNOWN
Gene: PEX3
Disease: Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; ZS (ORPHA:912)
Association type: UNKNOWN
Gene: PEX3
Disease: Infantile Refsum disease; IRD; Mild PBD-ZSD; Mild peroxisome biogenesis disorder-Zellweger spectrum disorder (ORPHA:772)
Association type: UNKNOWN
Gene: TMLHE
Disease: AUTISM, SUSCEPTIBILITY TO, X-LINKED 6 (OMIM:300872)
Association type: POLYGENIC
Gene: CLIC5
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 103 (OMIM:616042)
Association type: MENDELIAN
Gene: CLIC5
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: DNAJC12
Disease: HYPERPHENYLALANINEMIA, MILD, NON-BH4-DEFICIENT (OMIM:617384)
Association type: MENDELIAN
Gene: DNAJC12
Disease: Hyperphenylalaninemia due to DNAJC12 deficiency; Non-phenylketonuric non-BH4-deficiency hyperphenylalaninemia (ORPHA:508523)
Association type: UNKNOWN
Gene: ALG13
Disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 36 (OMIM:300884)
Association type: MENDELIAN
Gene: ALG13
Disease: ALG13-CDG; CDG syndrome type Is; CDG-Is; CDG1S; Congenital disorder of glycosylation type 1s; Congenital disorder of glycosylation type Is (ORPHA:324422)
Association type: UNKNOWN
Gene: ALG13
Disease: X-linked non-syndromic intellectual disability (ORPHA:777)
Association type: UNKNOWN
Gene: KCNB1
Disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 26 (OMIM:616056)
Association type: MENDELIAN
Gene: KCNB1
Disease: Non-specific early-onset epileptic encephalopathy; Non-specific EOEE; Undetermined EOEE; Undetermined early-onset epileptic encephalopathy (ORPHA:442835)
Association type: UNKNOWN
Gene: DNAL4
Disease: MIRROR MOVEMENTS 3 (OMIM:616059)
Association type: MENDELIAN
Gene: DNAL4
Disease: Familial congenital mirror movements; Familial congenital controlateral synkinesia; Hereditary congenital controlateral synkinesia; Hereditary congenital mirror movements; Isolated congenital controlateral synkinesia; Isolated congenital mirror movements (ORPHA:238722)
Association type: UNKNOWN
Gene: KLK4
Disease: AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA1 (OMIM:204700)
Association type: MENDELIAN
Gene: KLK4
Disease: Hypomaturation amelogenesis imperfecta; Amelogenesis imperfecta type 2 (ORPHA:100033)
Association type: UNKNOWN
Gene: APOL2
Disease: SCHIZOPHRENIA (OMIM:181500)
Association type: POLYGENIC
Gene: DAOA
Disease: SCHIZOPHRENIA (OMIM:181500)
Association type: POLYGENIC
Gene: SYN2
Disease: SCHIZOPHRENIA (OMIM:181500)
Association type: POLYGENIC
Gene: DISC2
Disease: SCHIZOPHRENIA (OMIM:181500)
Association type: MENDELIAN
Gene: RTN4R
Disease: SCHIZOPHRENIA (OMIM:181500)
Association type: POLYGENIC
Gene: APOL4
Disease: SCHIZOPHRENIA (OMIM:181500)
Association type: POLYGENIC
Gene: KREMEN1
Disease: ECTODERMAL DYSPLASIA 13, HAIR/TOOTH TYPE (OMIM:617392)
Association type: MENDELIAN
Gene: DLG3
Disease: MENTAL RETARDATION, X-LINKED 90 (OMIM:300850)
Association type: MENDELIAN
Gene: DLG3
Disease: X-linked non-syndromic intellectual disability (ORPHA:777)
Association type: UNKNOWN
Gene: HNRNPU
Disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 54 (OMIM:617391)
Association type: MENDELIAN
Gene: HNRNPU
Disease: 1q44 microdeletion syndrome; Del(1)(q44); Monosomy 1q44 (ORPHA:238769)
Association type: UNKNOWN
Gene: ART4
Disease: BLOOD GROUP, DOMBROCK SYSTEM (OMIM:616060)
Association type: MENDELIAN
Gene: COG2
Disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIq (OMIM:617395)
Association type: MENDELIAN
Gene: COG2
Disease: COG2-CDG; COG2-related congenital disorder of glycosylation (ORPHA:435934)
Association type: UNKNOWN
Gene: SLC17A9
Disease: POROKERATOSIS 8, DISSEMINATED SUPERFICIAL ACTINIC TYPE (OMIM:616063)
Association type: MENDELIAN
Gene: SLC17A9
Disease: Disseminated superficial actinic porokeratosis (ORPHA:79152)
Association type: UNKNOWN
Gene: NACC1
Disease: NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, CATARACTS, FEEDING DIFFICULTIES, AND DELAYED BRAIN MYELINATION (OMIM:617393)
Association type: MENDELIAN
Gene: NACC1
Disease: Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract (ORPHA:500545)
Association type: UNKNOWN
Gene: UBQLN2
Disease: AMYOTROPHIC LATERAL SCLEROSIS 15 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA (OMIM:300857)
Association type: MENDELIAN
Gene: UBQLN2
Disease: Amyotrophic lateral sclerosis; ALS; Charcot disease; Lou Gehrig disease (ORPHA:803)
Association type: UNKNOWN
Gene: USP18
Disease: PSEUDO-TORCH SYNDROME 2 (OMIM:617397)
Association type: MENDELIAN
Gene: USP18
Disease: USP18 deficiency (ORPHA:481665)
Association type: UNKNOWN
Gene: GDI1
Disease: MENTAL RETARDATION, X-LINKED 41 (OMIM:300849)
Association type: MENDELIAN
Gene: GDI1
Disease: X-linked non-syndromic intellectual disability (ORPHA:777)
Association type: UNKNOWN
Gene: NPC1
Disease: NIEMANN-PICK DISEASE, TYPE C1 (OMIM:257220)
Association type: MENDELIAN
Gene: NPC1
Disease: Niemann-Pick disease type C, severe perinatal form (ORPHA:216972)
Association type: UNKNOWN
Gene: NPC1
Disease: Niemann-Pick disease type C, severe early infantile neurologic onset (ORPHA:216975)
Association type: UNKNOWN
Gene: NPC1
Disease: Niemann-Pick disease type C, late infantile neurologic onset (ORPHA:216978)
Association type: UNKNOWN
Gene: NPC1
Disease: Niemann-Pick disease type C, adult neurologic onset (ORPHA:216986)
Association type: UNKNOWN
Gene: NPC1
Disease: Niemann-Pick disease type C, juvenile neurologic onset; Niemann-Pick disease type C, classic form (ORPHA:216981)
Association type: UNKNOWN
Gene: PUS1
Disease: MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 1 (OMIM:600462)
Association type: MENDELIAN
Gene: PUS1
Disease: Mitochondrial myopathy and sideroblastic anemia; MLASA; Myopathy, lactic acidosis and sideroblastic anemia (ORPHA:2598)
Association type: UNKNOWN
Gene: UBE2A
Disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE (OMIM:300860)
Association type: MENDELIAN