TaoMedAI/RareMedData huggingface dataset:
Gene: TTR
Disease: HYPERTHYROXINEMIA, DYSTRANSTHYRETINEMIC (OMIM:145680)
Association type: MENDELIAN
Gene: TTR
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED (OMIM:105210)
Association type: MENDELIAN
Gene: TTR
Disease: ATTRV30M amyloidosis; ATTRV30M-related amyloidosis; Hereditary ATTRV30M-related amyloidosis (ORPHA:85447)
Association type: UNKNOWN
Gene: TTR
Disease: ATTRV122I amyloidosis; ATTRV122I-related amyloidosis (ORPHA:85451)
Association type: UNKNOWN
Gene: TTR
Disease: Euthyroid dysprealbuminemic hyperthyroxinemia; Euthyroid dystransthyretinemic hyperthyroxinemia (ORPHA:597939)
Association type: UNKNOWN
Gene: BCHE
Disease: BUTYRYLCHOLINESTERASE DEFICIENCY (OMIM:617936)
Association type: MENDELIAN
Gene: BCHE
Disease: Hereditary butyrylcholinesterase deficiency; Hereditary pseudocholinesterase deficiency (ORPHA:132)
Association type: UNKNOWN
Gene: SCN3A
Disease: EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 4 (OMIM:617935)
Association type: MENDELIAN
Gene: SCN3A
Disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 62 (OMIM:617938)
Association type: MENDELIAN
Gene: SCN3A
Disease: Non-specific early-onset epileptic encephalopathy; Non-specific EOEE; Undetermined EOEE; Undetermined early-onset epileptic encephalopathy (ORPHA:442835)
Association type: UNKNOWN
Gene: ADAM22
Disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 61 (OMIM:617933)
Association type: MENDELIAN
Gene: ZIC1
Disease: CRANIOSYNOSTOSIS 6 (OMIM:616602)
Association type: MENDELIAN
Gene: ZIC1
Disease: STRUCTURAL BRAIN ANOMALIES WITH IMPAIRED INTELLECTUAL DEVELOPMENT AND CRANIOSYNOSTOSIS (OMIM:618736)
Association type: MENDELIAN
Gene: ZIC1
Disease: Non-syndromic bicoronal craniosynostosis; Isolated bicoronal craniosynostosis; Isolated brachycephaly; Non-syndromic bilateral coronal suture synostosis (ORPHA:35099)
Association type: UNKNOWN
Gene: ZIC1
Disease: Isolated Dandy-Walker malformation with hydrocephalus (ORPHA:269212)
Association type: UNKNOWN
Gene: ZIC1
Disease: Isolated Dandy-Walker malformation without hydrocephalus (ORPHA:269215)
Association type: UNKNOWN
Gene: PTPMT1
Disease:  (OMIM:621199)
Association type: MENDELIAN
Gene: RB1
Disease: SMALL CELL CANCER OF THE LUNG (OMIM:182280)
Association type: MENDELIAN
Gene: RB1
Disease: OSTEOGENIC SARCOMA (OMIM:259500)
Association type: MENDELIAN
Gene: RB1
Disease: BLADDER CANCER (OMIM:109800)
Association type: MENDELIAN
Gene: RB1
Disease: RETINOBLASTOMA (OMIM:180200)
Association type: MENDELIAN
Gene: RB1
Disease: Monosomy 13q14 syndrome; Del(13)(q14); Deletion 13q14 (ORPHA:1587)
Association type: UNKNOWN
Gene: RB1
Disease: Small cell lung cancer; SCLC (ORPHA:70573)
Association type: UNKNOWN
Gene: RB1
Disease: Osteosarcoma; Osteogenic sarcoma (ORPHA:668)
Association type: UNKNOWN
Gene: RB1
Disease: Non-hereditary retinoblastoma (ORPHA:357034)
Association type: UNKNOWN
Gene: RB1
Disease: Hereditary retinoblastoma (ORPHA:357027)
Association type: UNKNOWN
Gene: EFL1
Disease: SHWACHMAN-DIAMOND SYNDROME 2 (OMIM:617941)
Association type: MENDELIAN
Gene: EFL1
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: EFL1
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: EFL1
Disease: Shwachman-Diamond syndrome; Pancreatic insufficiency and bone marrow dysfunction; SDS; Shwachman syndrome; Shwachman-Bodian-Diamond syndrome (ORPHA:811)
Association type: UNKNOWN
Gene: SPTB
Disease: ELLIPTOCYTOSIS 3 (OMIM:617948)
Association type: MENDELIAN
Gene: SPTB
Disease: SPHEROCYTOSIS, TYPE 2 (OMIM:616649)
Association type: MENDELIAN
Gene: SPTB
Disease: Hereditary elliptocytosis; HE (ORPHA:288)
Association type: UNKNOWN
Gene: SPTB
Disease: Hereditary spherocytosis; Minkowski-Chauffard disease (ORPHA:822)
Association type: UNKNOWN
Gene: PEX6
Disease: HEIMLER SYNDROME 2 (OMIM:616617)
Association type: MENDELIAN
Gene: PEX6
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: PEX6
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: PEX6
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: PEX6
Disease: PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER) (OMIM:614862)
Association type: MENDELIAN
Gene: PEX6
Disease: PEROXISOME BIOGENESIS DISORDER 4B (OMIM:614863)
Association type: MENDELIAN
Gene: PEX6
Disease: Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome; Autosomal recessive spinocerebellar ataxia type 3; Autosomal recessive spinocerebellar ataxia-blindness-hearing loss syndrome; SCABD; SCAR3 (ORPHA:95433)
Association type: UNKNOWN
Gene: PEX6
Disease: Deafness-enamel hypoplasia-nail defects syndrome; Hearing loss-enamel hypoplasia-nail defects syndrome; Heimler syndrome (ORPHA:3220)
Association type: UNKNOWN
Gene: PEX6
Disease: Neonatal adrenoleukodystrophy; Intermediate PBD-ZSD; Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder; NALD (ORPHA:44)
Association type: UNKNOWN
Gene: PEX6
Disease: Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; ZS (ORPHA:912)
Association type: UNKNOWN
Gene: PEX6
Disease: Infantile Refsum disease; IRD; Mild PBD-ZSD; Mild peroxisome biogenesis disorder-Zellweger spectrum disorder (ORPHA:772)
Association type: UNKNOWN
Gene: IFIH1
Disease: SINGLETON-MERTEN SYNDROME 1 (OMIM:182250)
Association type: MENDELIAN
Gene: IFIH1
Disease: AICARDI-GOUTIERES SYNDROME 7 (OMIM:615846)
Association type: MENDELIAN
Gene: IFIH1
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: IFIH1
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: IFIH1
Disease: IMMUNODEFICIENCY 95 (OMIM:619773)
Association type: MENDELIAN
Gene: IFIH1
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: IFIH1
Disease: IFH1-related hereditary spastic paraplegia (ORPHA:689231)
Association type: UNKNOWN
Gene: IFIH1
Disease: Singleton-Merten dysplasia; Singleton-Merten syndrome (ORPHA:85191)
Association type: UNKNOWN
Gene: SLC9A6
Disease:  (OMIM:301142)
Association type: MENDELIAN
Gene: SLC9A6
Disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, CHRISTIANSON TYPE (OMIM:300243)
Association type: MENDELIAN
Gene: SLC9A6
Disease: Christianson syndrome; X-linked Angelman-like syndrome (ORPHA:85278)
Association type: UNKNOWN
Gene: HBG1
Disease: FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 1 (OMIM:141749)
Association type: MENDELIAN
Gene: HBG1
Disease: Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome; HPFH-beta-thalassemia syndrome (ORPHA:46532)
Association type: UNKNOWN
Gene: HBG1
Disease: Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome; HPFH-sickle cell disease syndrome (ORPHA:251380)
Association type: UNKNOWN
Gene: HBG1
Disease: Delta-beta-thalassemia (ORPHA:231237)
Association type: UNKNOWN
Gene: MRPS2
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 36 (OMIM:617950)
Association type: MENDELIAN
Gene: IDH3G
Disease:  (OMIM:301148)
Association type: MENDELIAN
Gene: PMPCB
Disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 6 (OMIM:617954)
Association type: MENDELIAN
Gene: PMPCB
Disease: Multiple mitochondrial dysfunctions syndrome type 6; PMPCB deficiency (ORPHA:569290)
Association type: UNKNOWN
Gene: TENT5A
Disease: OSTEOGENESIS IMPERFECTA, TYPE XVIII (OMIM:617952)
Association type: MENDELIAN
Gene: TENT5A
Disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Association type: MENDELIAN
Gene: TENT5A
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: TENT5A
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: TENT5A
Disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Association type: MENDELIAN
Gene: TENT5A
Disease: Osteogenesis imperfecta type 3; OI type 3; Progressive deforming osteogenesis imperfecta; Severe osteogenesis imperfecta (ORPHA:216812)
Association type: UNKNOWN
Gene: EPRS1
Disease: LEUKODYSTROPHY, HYPOMYELINATING, 15 (OMIM:617951)
Association type: MENDELIAN
Gene: TAS2R16
Disease: BETA-GLUCOPYRANOSIDE TASTING (OMIM:617956)
Association type: MENDELIAN
Gene: TAS2R16
Disease: ALCOHOL DEPENDENCE (OMIM:103780)
Association type: POLYGENIC
Gene: HARS1
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2W (OMIM:616625)
Association type: MENDELIAN
Gene: HARS1
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: HARS1
Disease: USHER SYNDROME, TYPE IIIB (OMIM:614504)
Association type: MENDELIAN
Gene: HARS1
Disease: Autosomal dominant Charcot-Marie-Tooth disease type 2W; Autosomal dominant Charcot-Marie-Tooth disease type 2 due to HARS mutation; CMT2W (ORPHA:488333)
Association type: UNKNOWN
Gene: HARS1
Disease: Usher syndrome type 3; USH3 (ORPHA:231183)
Association type: UNKNOWN
Gene: CENPF
Disease: STROMME SYNDROME (OMIM:243605)
Association type: MENDELIAN
Gene: CENPF
Disease: Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome (ORPHA:444069)
Association type: UNKNOWN
Gene: CENPF
Disease: Stromme syndrome; Apple-peel intestinal atresia-ocular anomalies-microcephaly syndrome; Jejunal atresia-microcephaly-ocular anomalies syndrome (ORPHA:506307)
Association type: UNKNOWN
Gene: TRAF3IP1
Disease: SENIOR-LOKEN SYNDROME 9 (OMIM:616629)
Association type: MENDELIAN
Gene: TRAF3IP1
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: TRAF3IP1
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: TRAF3IP1
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: TRAF3IP1
Disease: Senior-Loken syndrome; Nephronophthisis with retinal dystrophy; Renal dysplasia-retinal aplasia syndrome; SLSN (ORPHA:3156)
Association type: UNKNOWN
Gene: TRAF3IP1
Disease: Short rib-polydactyly syndrome, Majewski type; Short rib-polydactyly syndrome type 2 (ORPHA:93269)
Association type: UNKNOWN
Gene: GUCA1A
Disease: CONE DYSTROPHY 3 (OMIM:602093)
Association type: MENDELIAN
Gene: GUCA1A
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: GUCA1A
Disease: Central areolar choroidal dystrophy; Areolar atrophy of the macula; CACD; Central areolar choroidal sclerosis (ORPHA:75377)
Association type: UNKNOWN
Gene: GUCA1A
Disease: Cone rod dystrophy (ORPHA:1872)
Association type: UNKNOWN
Gene: GUCA1A
Disease: Progressive cone dystrophy; Cone dystrophy (ORPHA:1871)
Association type: UNKNOWN
Gene: CFAP69
Disease: SPERMATOGENIC FAILURE 24 (OMIM:617959)
Association type: MENDELIAN
Gene: CFAP69
Disease: Non-syndromic male infertility due to sperm motility disorder; Non-syndromic male infertility due asthenozoospermia (ORPHA:276234)
Association type: UNKNOWN
Gene: COL6A2
Disease: MYOSCLEROSIS, AUTOSOMAL RECESSIVE (OMIM:255600)
Association type: MENDELIAN
Gene: COL6A2
Disease: ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1B (OMIM:620727)
Association type: MENDELIAN
Gene: COL6A2
Disease: BETHLEM MYOPATHY 1B (OMIM:620725)
Association type: MENDELIAN
Gene: COL6A2
Disease: Myosclerosis; Congenital myosclerosis, Löwenthal type (ORPHA:289380)
Association type: UNKNOWN
Gene: COL6A2
Disease: Ullrich congenital muscular dystrophy; UCMD; Ullrich scleroatonic muscular dystrophy (ORPHA:75840)
Association type: UNKNOWN
Gene: COL6A2
Disease: Bethlem muscular dystrophy; Bethlem myopathy; LGMD D5 collagen 6-related dystrophy; LGMD D5 collagen VI-related dystrophy; LGMD R22 collagen 6-related dystrophy; LGMD R22 collagen VI-related dystrophy; Mild form of COL6-related dystrophy; Mild form of collagen VI-related dystrophy (ORPHA:610)
Association type: UNKNOWN
Gene: COL6A2
Disease: Intermediate collagen VI-related muscular dystrophy; Intermediate COL6-RD (ORPHA:646113)
Association type: UNKNOWN
Gene: KDR
Disease: HEMANGIOMA, CAPILLARY INFANTILE (OMIM:602089)
Association type: MENDELIAN
Gene: KDR
Disease: TETRALOGY OF FALLOT (OMIM:187500)
Association type: MENDELIAN
Gene: KDR
Disease: Tetralogy of Fallot (ORPHA:3303)
Association type: UNKNOWN
Gene: ANTXR1
Disease: HEMANGIOMA, CAPILLARY INFANTILE (OMIM:602089)
Association type: POLYGENIC
Gene: ANTXR1
Disease: GAPO SYNDROME (OMIM:230740)
Association type: MENDELIAN
Gene: ANTXR1
Disease: GAPO syndrome; Growth delay-alopecia-pseudoanodontia-optic atrophy syndrome (ORPHA:2067)
Association type: UNKNOWN
Gene: SARDH
Disease: SARCOSINEMIA (OMIM:268900)
Association type: MENDELIAN
Gene: SARDH
Disease: Sarcosinemia; Sarcosine dehydrogenase complex deficiency (ORPHA:3129)
Association type: UNKNOWN
Gene: TSGA10
Disease: SPERMATOGENIC FAILURE 26 (OMIM:617961)
Association type: MENDELIAN
Gene: TEX15
Disease: SPERMATOGENIC FAILURE 25 (OMIM:617960)
Association type: MENDELIAN
Gene: TEX15
Disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Association type: UNKNOWN
Gene: AK7
Disease: SPERMATOGENIC FAILURE 27 (OMIM:617965)
Association type: MENDELIAN
Gene: AK7
Disease: Non-syndromic male infertility due to sperm motility disorder; Non-syndromic male infertility due asthenozoospermia (ORPHA:276234)
Association type: UNKNOWN
Gene: TMEM106B
Disease: LEUKODYSTROPHY, HYPOMYELINATING, 16 (OMIM:617964)
Association type: MENDELIAN
Gene: TMEM106B
Disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Association type: UNKNOWN
Gene: TMEM106B
Disease: Progressive non-fluent aphasia; Agramatic variant of PPA; Agramatic variant of primary progressive aphasia; Non-fluent variant PPA (ORPHA:100070)
Association type: UNKNOWN
Gene: TMEM106B
Disease: Semantic dementia; Semantic primary progressive aphasia; Semantic variant PPA (ORPHA:100069)
Association type: UNKNOWN
Gene: LARS2
Disease: PERRAULT SYNDROME 4 (OMIM:615300)
Association type: MENDELIAN
Gene: LARS2
Disease: HYDROPS, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA (OMIM:617021)
Association type: MENDELIAN
Gene: LARS2
Disease: Perrault syndrome type 2; XX gonadal dysgenesis-deafness syndrome-progressive neurological manifestations (ORPHA:642976)
Association type: UNKNOWN
Gene: LARS2
Disease: Perrault syndrome type 1; XX gonadal dysgenesis-deafness syndrome-without neurological manifestations (ORPHA:642945)
Association type: UNKNOWN
Gene: LARS2
Disease: Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome (ORPHA:528091)
Association type: UNKNOWN
Gene: FDPS
Disease: POROKERATOSIS 9, MULTIPLE TYPES (OMIM:616631)
Association type: MENDELIAN
Gene: FDPS
Disease: Disseminated superficial actinic porokeratosis (ORPHA:79152)
Association type: UNKNOWN
Gene: MTOR
Disease: SMITH-KINGSMORE SYNDROME (OMIM:616638)
Association type: MENDELIAN
Gene: MTOR
Disease: FOCAL CORTICAL DYSPLASIA, TYPE II (OMIM:607341)
Association type: MENDELIAN
Gene: MTOR
Disease: Hemimegalencephaly; Unilateral megalencephaly (ORPHA:99802)
Association type: UNKNOWN
Gene: MTOR
Disease: Isolated focal cortical dysplasia type IIa; FCD type IIa (ORPHA:269001)
Association type: UNKNOWN
Gene: MTOR
Disease: Isolated focal cortical dysplasia type IIb; FCD type IIb (ORPHA:269008)
Association type: UNKNOWN
Gene: MTOR
Disease: Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome; MINDS syndrome; Smith-Kingsmore syndrome (ORPHA:457485)
Association type: UNKNOWN
Gene: FOXP2
Disease: SPEECH-LANGUAGE DISORDER 1 (OMIM:602081)
Association type: MENDELIAN
Gene: FOXP2
Disease: Isolated childhood apraxia of speech; Isolated CAS; Isolated developmental verbal dyspraxia; Pure CAS; Pure childhood apraxia of speech; Speech and language disorder with orofacial dyspraxia; Speech-language disorder type 1 (ORPHA:209908)
Association type: UNKNOWN
Gene: FOXP2
Disease: 7q31 microdeletion syndrome; Del(7)(q31); Monosomy 7q31 (ORPHA:251061)
Association type: UNKNOWN
Gene: INVS
Disease: NEPHRONOPHTHISIS 2 (OMIM:602088)
Association type: MENDELIAN
Gene: INVS
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: INVS
Disease: Senior-Loken syndrome; Nephronophthisis with retinal dystrophy; Renal dysplasia-retinal aplasia syndrome; SLSN (ORPHA:3156)
Association type: UNKNOWN
Gene: INVS
Disease: Infantile nephronophthisis; Autosomal recessive infantile NPHP; Autosomal recessive infantile nephronophthisis (ORPHA:93591)
Association type: UNKNOWN
Gene: HESX1
Disease: SEPTOOPTIC DYSPLASIA (OMIM:182230)
Association type: MENDELIAN
Gene: HESX1
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: HESX1
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: HESX1
Disease: Septo-optic dysplasia spectrum; De Morsier syndrome; SOD; Septo-optic dysplasia (ORPHA:3157)
Association type: UNKNOWN
Gene: HESX1
Disease: Pituitary stalk interruption syndrome; Ectopic neurohypophysis; PSIS (ORPHA:95496)
Association type: UNKNOWN
Gene: HESX1
Disease: Combined pituitary hormone deficiencies, genetic forms; Familial congenital hypopituitarism; Multiple pituitary hormone deficiencies, genetic forms (ORPHA:95494)
Association type: UNKNOWN
Gene: HESX1
Disease: Hypothyroidism due to deficient transcription factors involved in pituitary development or function (ORPHA:226307)
Association type: UNKNOWN
Gene: HESX1
Disease: Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia; Olfacto-genital pathological sequence (ORPHA:478)
Association type: UNKNOWN
Gene: FMO3
Disease: TRIMETHYLAMINURIA (OMIM:602079)
Association type: MENDELIAN
Gene: FMO3
Disease: Severe primary trimethylaminuria; TMAU (ORPHA:468726)
Association type: UNKNOWN
Gene: PHOX2A
Disease: FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 2 (OMIM:602078)
Association type: MENDELIAN
Gene: PHOX2A
Disease: Congenital fibrosis of extraocular muscles; FEOM (ORPHA:45358)
Association type: UNKNOWN
Gene: PRDM8
Disease: EPILEPSY, PROGRESSIVE MYOCLONIC, 10 (OMIM:616640)
Association type: MENDELIAN
Gene: PRDM8
Disease: Early-onset Lafora body disease (ORPHA:324290)
Association type: UNKNOWN
Gene: RHCE
Disease: RH-NULL, AMORPH TYPE (OMIM:617970)
Association type: MENDELIAN
Gene: RHCE
Disease: Rh deficiency syndrome; Rh-null syndrome (ORPHA:71275)
Association type: UNKNOWN
Gene: TCF12
Disease: CRANIOSYNOSTOSIS 3 (OMIM:615314)
Association type: MENDELIAN
Gene: TCF12
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: TCF12
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: TCF12
Disease: HYPOGONADOTROPIC HYPOGONADISM 26 WITH OR WITHOUT ANOSMIA (OMIM:619718)
Association type: MENDELIAN
Gene: TCF12
Disease: Extraskeletal myxoid chondrosarcoma (ORPHA:209916)
Association type: UNKNOWN
Gene: TCF12
Disease: Non-syndromic bicoronal craniosynostosis; Isolated bicoronal craniosynostosis; Isolated brachycephaly; Non-syndromic bilateral coronal suture synostosis (ORPHA:35099)
Association type: UNKNOWN
Gene: GALNS
Disease: MUCOPOLYSACCHARIDOSIS, TYPE IVA (OMIM:253000)
Association type: MENDELIAN
Gene: GALNS
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: GALNS
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: GALNS
Disease: Mucopolysaccharidosis type 4A; GALNS deficiency; Galactosamine-6-sulfatase deficiency; MPS4A; MPSIVA; Morquio disease type A; Mucopolysaccharidosis type IVA; N-acetylgalactosamine-6-sulfate sulfatase deficiency (ORPHA:309297)
Association type: UNKNOWN
Gene: LGR4
Disease: BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 17 (OMIM:615311)
Association type: POLYGENIC
Gene: LGR4
Disease: DELAYED PUBERTY, SELF-LIMITED (OMIM:619613)
Association type: MENDELIAN
Gene: ITPA
Disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 35 (OMIM:616647)
Association type: MENDELIAN
Gene: ITPA
Disease: INOSINE TRIPHOSPHATASE DEFICIENCY (OMIM:613850)
Association type: MENDELIAN
Gene: ITPA
Disease: ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement; Martsolf-like syndrome (ORPHA:457375)
Association type: UNKNOWN
Gene: WDR45B
Disease: NEURODEVELOPMENTAL DISORDER WITH SPASTIC QUADRIPLEGIA AND BRAIN ABNORMALITIES WITH OR WITHOUT SEIZURES (OMIM:617977)
Association type: MENDELIAN
Gene: SUGCT
Disease: GLUTARIC ACIDURIA III (OMIM:231690)
Association type: MENDELIAN
Gene: SUGCT
Disease: Glutaric acidemia type 3; Glutaric aciduria type 3; Glutaryl-CoA oxidase deficiency (ORPHA:35706)
Association type: UNKNOWN
Gene: DHRSX
Disease:  (OMIM:301133)
Association type: MENDELIAN
Gene: SRPK3
Disease:  (OMIM:301134)
Association type: MENDELIAN
Gene: ZRSR2
Disease:  (OMIM:301132)
Association type: MENDELIAN
Gene: NCAPD2
Disease: MICROCEPHALY 21, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:617983)
Association type: MENDELIAN
Gene: RBBP7
Disease:  (OMIM:301137)
Association type: MENDELIAN
Gene: QRICH1
Disease: VERVERI-BRADY SYNDROME (OMIM:617982)
Association type: MENDELIAN
Gene: QRICH1
Disease: QRICH1-related intellectual disability-chondrodysplasia syndrome (ORPHA:580940)
Association type: UNKNOWN
Gene: NCAPH
Disease: MICROCEPHALY 23, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:617985)
Association type: MENDELIAN
Gene: TCTN2
Disease: JOUBERT SYNDROME 24 (OMIM:616654)
Association type: MENDELIAN
Gene: TCTN2
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: TCTN2
Disease: MECKEL SYNDROME, TYPE 8 (OMIM:613885)
Association type: MENDELIAN
Gene: TCTN2
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: TCTN2
Disease: Meckel syndrome; Dysencephalia splanchnocystica; Meckel-Gruber syndrome (ORPHA:564)
Association type: UNKNOWN
Gene: TCTN2
Disease: Joubert syndrome; CPD IV; Cerebelloparenchymal disorder IV; Classic Joubert syndrome; Joubert syndrome type A; Joubert-Boltshauser syndrome; Pure Joubert syndrome (ORPHA:475)
Association type: UNKNOWN
Gene: NCAPD3
Disease: MICROCEPHALY 22, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:617984)
Association type: MENDELIAN
Gene: NCAPD3
Disease: Autosomal recessive primary microcephaly; MCPH; Microcephalia vera; Microcephaly vera; True microcephaly (ORPHA:2512)
Association type: UNKNOWN
Gene: COG6
Disease: SHAHEEN SYNDROME (OMIM:615328)
Association type: MENDELIAN
Gene: COG6
Disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl (OMIM:614576)
Association type: MENDELIAN
Gene: COG6
Disease: COG6-CGD; CDG syndrome type IIL; CDG-IIL; CDG2L; Congenital disorder of glycosylation type 2l; Congenital disorder of glycosylation type IIL (ORPHA:464443)
Association type: UNKNOWN
Gene: COG6
Disease: Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome; Shaheen syndrome (ORPHA:363523)
Association type: UNKNOWN
Gene: GTPBP2
Disease: JABERI-ELAHI SYNDROME (OMIM:617988)
Association type: MENDELIAN
Gene: SLC1A4
Disease: SPASTIC TETRAPLEGIA, THIN CORPUS CALLOSUM, AND PROGRESSIVE MICROCEPHALY (OMIM:616657)
Association type: MENDELIAN
Gene: SLC1A4
Disease: Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome; ASCT1 deficiency; Spastic quadriplegia-thin corpus callosum-progressive postnatal microcephaly syndrome (ORPHA:447997)
Association type: UNKNOWN
Gene: POFUT1
Disease: DOWLING-DEGOS DISEASE 2 (OMIM:615327)
Association type: MENDELIAN
Gene: POFUT1
Disease: Dowling-Degos disease; Reticular pigment anomaly of flexures (ORPHA:79145)
Association type: UNKNOWN
Gene: USP26
Disease: SPERMATOGENIC FAILURE, X-LINKED, 6 (OMIM:301101)
Association type: MENDELIAN
Gene: USP26
Disease: Non-syndromic male infertility due to sperm motility disorder; Non-syndromic male infertility due asthenozoospermia (ORPHA:276234)
Association type: UNKNOWN
Gene: PIK3R2
Disease: MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1 (OMIM:603387)
Association type: MENDELIAN
Gene: PIK3R2
Disease: Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome; MPPH syndrome (ORPHA:83473)
Association type: UNKNOWN
Gene: HSD3B2
Disease: ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 3-BETA-HYDROXYSTEROID DEHYDROGENASE 2 DEFICIENCY (OMIM:201810)
Association type: MENDELIAN
Gene: HSD3B2
Disease: Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency; CAH due to 3-beta-hydroxysteroid dehydrogenase deficiency (ORPHA:90791)
Association type: UNKNOWN
Gene: DKC1
Disease: CATARACTS, HEARING IMPAIRMENT, NEPHROTIC SYNDROME, AND ENTEROCOLITIS 1 (OMIM:301108)
Association type: MENDELIAN