TaoMedAI/RareMedData huggingface dataset:
Gene: KATNB1
Disease: Lissencephaly syndrome, Norman-Roberts type; Microlissencephaly type A (ORPHA:89844)
Association type: UNKNOWN
Gene: DCC
Disease: GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS 2, WITH IMPAIRED INTELLECTUAL DEVELOPMENT (OMIM:617542)
Association type: MENDELIAN
Gene: DCC
Disease: ESOPHAGEAL CANCER (OMIM:133239)
Association type: MENDELIAN
Gene: DCC
Disease: COLORECTAL CANCER (OMIM:114500)
Association type: MENDELIAN
Gene: DCC
Disease: MIRROR MOVEMENTS 1 (OMIM:157600)
Association type: MENDELIAN
Gene: DCC
Disease: Horizontal gaze palsy with progressive scoliosis; HGPPS; Progressive external ophthalmoplegia and scoliosis (ORPHA:2744)
Association type: UNKNOWN
Gene: DCC
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: DCC
Disease: Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia; Olfacto-genital pathological sequence (ORPHA:478)
Association type: UNKNOWN
Gene: WWOX
Disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 28 (OMIM:616211)
Association type: MENDELIAN
Gene: WWOX
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12 (OMIM:614322)
Association type: MENDELIAN
Gene: WWOX
Disease: ESOPHAGEAL CANCER (OMIM:133239)
Association type: MENDELIAN
Gene: WWOX
Disease: 46,XY partial gonadal dysgenesis; 46,XY PGD; 46,XY partial testicular dysgenesis (ORPHA:251510)
Association type: UNKNOWN
Gene: WWOX
Disease: Squamous cell carcinoma of the esophagus; ESCC; Esophageal epidermoid carcinoma; Esophageal squamous cell carcinoma (ORPHA:99977)
Association type: UNKNOWN
Gene: WWOX
Disease: Non-specific early-onset epileptic encephalopathy; Non-specific EOEE; Undetermined EOEE; Undetermined early-onset epileptic encephalopathy (ORPHA:442835)
Association type: UNKNOWN
Gene: WWOX
Disease: Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency; Autosomal recessive spinocerebellar ataxia type 12; SCAR12 (ORPHA:284282)
Association type: UNKNOWN
Gene: CSGALNACT1
Disease: SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE (OMIM:618870)
Association type: MENDELIAN
Gene: CSGALNACT1
Disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Association type: MENDELIAN
Gene: CSGALNACT1
Disease: LARSEN SYNDROME (OMIM:150250)
Association type: MENDELIAN
Gene: CSGALNACT1
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: CSGALNACT1
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: CSGALNACT1
Disease: Desbuquois syndrome; DBQD; Desbuquois dysplasia (ORPHA:1425)
Association type: UNKNOWN
Gene: CDH23
Disease: PITUITARY ADENOMA 5, MULTIPLE TYPES (OMIM:617540)
Association type: POLYGENIC
Gene: CDH23
Disease: USHER SYNDROME, TYPE ID (OMIM:601067)
Association type: MENDELIAN
Gene: CDH23
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 12 (OMIM:601386)
Association type: MENDELIAN
Gene: CDH23
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: CDH23
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: CDH23
Disease: Cushing disease; Corticotroph pituitary adenoma; Pituitary corticotroph micro-adenoma; Pituitary-dependent Cushing syndrome (ORPHA:96253)
Association type: UNKNOWN
Gene: CDH23
Disease: TSH-secreting pituitary adenoma; Pituitary thyrotrophic adenoma; TSH-oma; Thyroid stimulating hormone-secreting pituitary adenoma; Thyrotroph adenoma (ORPHA:91347)
Association type: UNKNOWN
Gene: CDH23
Disease: Prolactinoma; Lactotroph adenoma; PRL-secreting pituitary adenoma; PRLoma; Pituitary lactotrophic adenoma; Prolactin-secreting pituitary adenoma (ORPHA:2965)
Association type: UNKNOWN
Gene: CDH23
Disease: Familial isolated pituitary adenoma; FIPA (ORPHA:314777)
Association type: UNKNOWN
Gene: CDH23
Disease: Usher syndrome type 1; USH1 (ORPHA:231169)
Association type: UNKNOWN
Gene: DHODH
Disease: POSTAXIAL ACROFACIAL DYSOSTOSIS (OMIM:263750)
Association type: MENDELIAN
Gene: DHODH
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: DHODH
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: DHODH
Disease: Postaxial acrofacial dysostosis; Acrofacial dysostosis, Genee-Wiedemann type; Mandibulofacial dysostosis with postaxial limb anomalies; Miller syndrome; POADS; Postaxial acrodysostosis (ORPHA:246)
Association type: UNKNOWN
Gene: PIGK
Disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND CEREBELLAR ATROPHY, WITH OR WITHOUT SEIZURES (OMIM:618879)
Association type: MENDELIAN
Gene: CFAP410
Disease: RETINAL DYSTROPHY WITH OR WITHOUT MACULAR STAPHYLOMA (OMIM:617547)
Association type: MENDELIAN
Gene: CFAP410
Disease: SPONDYLOMETAPHYSEAL DYSPLASIA, AXIAL (OMIM:602271)
Association type: MENDELIAN
Gene: CFAP410
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: CFAP410
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: CFAP410
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: CFAP410
Disease: Cone rod dystrophy (ORPHA:1872)
Association type: UNKNOWN
Gene: CFAP410
Disease: Amyotrophic lateral sclerosis; ALS; Charcot disease; Lou Gehrig disease (ORPHA:803)
Association type: UNKNOWN
Gene: CFAP410
Disease: Cone rod dystrophy-short stature syndrome (ORPHA:653709)
Association type: UNKNOWN
Gene: ETV6
Disease: THROMBOCYTOPENIA 5 (OMIM:616216)
Association type: MENDELIAN
Gene: ETV6
Disease: LEUKEMIA, ACUTE MYELOID (OMIM:601626)
Association type: MENDELIAN
Gene: ETV6
Disease: Primary hypereosinophilic syndrome; Clonal hypereosinophilic syndrome; HES-M; HES-N; Neoplastic hypereosinophilic syndrome; Primary HES (ORPHA:314950)
Association type: UNKNOWN
Gene: ETV6
Disease: Fibrosarcoma (ORPHA:2030)
Association type: UNKNOWN
Gene: ETV6
Disease: Differentiated thyroid carcinoma; Papillary or follicular thyroid carcinoma; Well-differentiated thyroid carcinoma (ORPHA:146)
Association type: UNKNOWN
Gene: ETV6
Disease: B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1); B lymphoblastic leukemia lymphoma with t(12;21)(p13;q22); TEL-AML1; B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1); ETV6-RUNX1 (ORPHA:585929)
Association type: UNKNOWN
Gene: ETV6
Disease: Chronic myelomonocytic leukemia; CMML (ORPHA:98823)
Association type: UNKNOWN
Gene: ETV6
Disease: Congenital mesoblastic nephroma (ORPHA:2665)
Association type: UNKNOWN
Gene: ETV6
Disease: Autosomal thrombocytopenia with normal platelets (ORPHA:168629)
Association type: UNKNOWN
Gene: NRROS
Disease: SEIZURES, EARLY-ONSET, WITH NEURODEGENERATION AND BRAIN CALCIFICATIONS (OMIM:618875)
Association type: MENDELIAN
Gene: ATM
Disease: ATAXIA-TELANGIECTASIA (OMIM:208900)
Association type: MENDELIAN
Gene: ATM
Disease: BREAST CANCER (OMIM:114480)
Association type: POLYGENIC
Gene: ATM
Disease: Ataxia-telangiectasia variant; v-AT (ORPHA:370109)
Association type: UNKNOWN
Gene: ATM
Disease: Mantle cell lymphoma; LCM; MCL; Mantle zone lymphoma (ORPHA:52416)
Association type: UNKNOWN
Gene: ATM
Disease: Ataxia-telangiectasia; Louis-Bar syndrome (ORPHA:100)
Association type: UNKNOWN
Gene: ATM
Disease: Hereditary breast cancer; Familial breast cancer; Familial breast carcinoma; Hereditary breast carcinoma (ORPHA:227535)
Association type: UNKNOWN
Gene: ATM
Disease: Familial prostate cancer (ORPHA:1331)
Association type: UNKNOWN
Gene: ATM
Disease: B-cell chronic lymphocytic leukemia; B-CLL; B-cell chronic lymphoid leukemia; CLL; CLL/SLL; Chronic lymphocytic leukemia; Small lymphocytic lymphoma (ORPHA:67038)
Association type: UNKNOWN
Gene: ATM
Disease: Familial colorectal cancer Type X; FCCTX (ORPHA:440437)
Association type: UNKNOWN
Gene: SEMA6B
Disease: EPILEPSY, PROGRESSIVE MYOCLONIC, 11 (OMIM:618876)
Association type: MENDELIAN
Gene: SEMA6B
Disease: Autosomal dominant non-syndromic intellectual disability (ORPHA:178469)
Association type: UNKNOWN
Gene: COL25A1
Disease: FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 5 (OMIM:616219)
Association type: MENDELIAN
Gene: COL25A1
Disease: Congenital fibrosis of extraocular muscles; FEOM (ORPHA:45358)
Association type: UNKNOWN
Gene: COL25A1
Disease: Congenital ptosis (ORPHA:91411)
Association type: UNKNOWN
Gene: COL25A1
Disease: Neurogenic arthrogryposis multiplex congenita (ORPHA:1143)
Association type: UNKNOWN
Gene: EIF2AK2
Disease: LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME (OMIM:618877)
Association type: MENDELIAN
Gene: EIF2AK2
Disease: DYSTONIA 33 (OMIM:619687)
Association type: MENDELIAN
Gene: EIF2AK2
Disease: Early-onset generalized limb-onset dystonia; Dystonia musculorum deformans; EOTD; Early-onset generalized torsion dystonia; Early-onset isolated dystonia; Early-onset primary dystonia; Early-onset torsion dystonia; Idiopathic torsion dystonia; Oppenheim dystonia (ORPHA:256)
Association type: UNKNOWN
Gene: EIF2AK1
Disease: LEUKOENCEPHALOPATHY, MOTOR DELAY, SPASTICITY, AND DYSARTHRIA SYNDROME (OMIM:618878)
Association type: MENDELIAN
Gene: PALLD
Disease: PANCREATIC CANCER, SUSCEPTIBILITY TO, 1 (OMIM:606856)
Association type: POLYGENIC
Gene: PALLD
Disease: Familial pancreatic carcinoma; Familial pancreatic cancer (ORPHA:1333)
Association type: UNKNOWN
Gene: ATOH7
Disease: PERSISTENT HYPERPLASTIC PRIMARY VITREOUS, AUTOSOMAL RECESSIVE (OMIM:221900)
Association type: MENDELIAN
Gene: ATOH7
Disease: Congenital cataract microcornea with corneal opacity; CCMCO (ORPHA:289499)
Association type: UNKNOWN
Gene: ATOH7
Disease: Persistent hyperplastic primary vitreous; Congenital retinal detachment; NCRNA disease; Non-syndromic congenital retinal non-attachment; PFVS; PHPV; Persistent fetal vasculature syndrome (ORPHA:91495)
Association type: UNKNOWN
Gene: ADGRG1
Disease: POLYMICROGYRIA, BILATERAL FRONTOPARIETAL (OMIM:606854)
Association type: MENDELIAN
Gene: ADGRG1
Disease: POLYMICROGYRIA, BILATERAL PERISYLVIAN, AUTOSOMAL RECESSIVE (OMIM:615752)
Association type: MENDELIAN
Gene: ADGRG1
Disease: Bilateral frontoparietal polymicrogyria (ORPHA:101070)
Association type: UNKNOWN
Gene: ADGRG1
Disease: Bilateral perisylvian polymicrogyria (ORPHA:98889)
Association type: UNKNOWN
Gene: AMN
Disease: IMERSLUND-GRASBECK SYNDROME 2 (OMIM:618882)
Association type: MENDELIAN
Gene: AMN
Disease: Imerslund-Gräsbeck syndrome; Familial megaloblastic anemia; Selective cobalamin malabsorption with proteinuria (ORPHA:35858)
Association type: UNKNOWN
Gene: GCM2
Disease: HYPOPARATHYROIDISM, FAMILIAL ISOLATED, 2 (OMIM:618883)
Association type: MENDELIAN
Gene: GCM2
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: GCM2
Disease: HYPERPARATHYROIDISM 4 (OMIM:617343)
Association type: MENDELIAN
Gene: GCM2
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: GCM2
Disease: Familial isolated hyperparathyroidism; FIHPT (ORPHA:99879)
Association type: UNKNOWN
Gene: GCM2
Disease: Familial isolated hypoparathyroidism due to agenesis of parathyroid gland (ORPHA:2239)
Association type: UNKNOWN
Gene: GALNT2
Disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt (OMIM:618885)
Association type: MENDELIAN
Gene: GALNT2
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: GALNT2
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: COL18A1
Disease: GLAUCOMA, PRIMARY CLOSED-ANGLE (OMIM:618880)
Association type: MENDELIAN
Gene: COL18A1
Disease: KNOBLOCH SYNDROME 1 (OMIM:267750)
Association type: MENDELIAN
Gene: COL18A1
Disease: Knobloch syndrome; Knobloch-Layer syndrome; Retinal detachment-occipital encephalocele syndrome (ORPHA:1571)
Association type: UNKNOWN
Gene: ITGB6
Disease: AMELOGENESIS IMPERFECTA, TYPE IH (OMIM:616221)
Association type: MENDELIAN
Gene: ITGB6
Disease: Alopecia-intellectual disability syndrome; Perniola-Krajewska-Carnevale syndrome (ORPHA:2850)
Association type: UNKNOWN
Gene: ITGB6
Disease: Hypoplastic amelogenesis imperfecta; Amelogenesis imperfecta type 1 (ORPHA:100031)
Association type: UNKNOWN
Gene: ITGB6
Disease: Hypocalcified amelogenesis imperfecta; Amelogenesis imperfecta type 3 (ORPHA:100032)
Association type: UNKNOWN
Gene: GALM
Disease: GALACTOSEMIA IV (OMIM:618881)
Association type: MENDELIAN
Gene: GALM
Disease: Galactose mutarotase deficiency; GALM deficiency; Galactosemia type 4 (ORPHA:570422)
Association type: UNKNOWN
Gene: ALG14
Disease: MYASTHENIC SYNDROME, CONGENITAL, 15 (OMIM:616227)
Association type: MENDELIAN
Gene: ALG14
Disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH EPILEPSY, BEHAVIORAL ABNORMALITIES, AND COARSE FACIES (OMIM:619031)
Association type: MENDELIAN
Gene: ALG14
Disease: MYOPATHY, EPILEPSY, AND PROGRESSIVE CEREBRAL ATROPHY (OMIM:619036)
Association type: MENDELIAN
Gene: ALG14
Disease: Congenital myasthenic syndromes with glycosylation defect (ORPHA:353327)
Association type: UNKNOWN
Gene: YY1
Disease: GABRIELE-DE VRIES SYNDROME (OMIM:617557)
Association type: MENDELIAN
Gene: YY1
Disease: Insulinoma (ORPHA:97279)
Association type: UNKNOWN
Gene: YY1
Disease: Gabriele-de Vries syndrome; YY1 haploinsufficiency syndrome (ORPHA:506358)
Association type: UNKNOWN
Gene: PREPL
Disease: MYASTHENIC SYNDROME, CONGENITAL, 22 (OMIM:616224)
Association type: MENDELIAN
Gene: PREPL
Disease: Atypical hypotonia-cystinuria syndrome; Atypical HCS (ORPHA:238523)
Association type: UNKNOWN
Gene: PREPL
Disease: Hypotonia-cystinuria syndrome; HCS (ORPHA:163690)
Association type: UNKNOWN
Gene: PREPL
Disease: 2p21 microdeletion syndrome; 2p21 deletion syndrome; Del(2)(p21); Monosomy 2p21 (ORPHA:163693)
Association type: UNKNOWN
Gene: PREPL
Disease: 2p21 microdeletion syndrome without cystinuria; Del(2)(p21) without cystinuria (ORPHA:369881)
Association type: UNKNOWN
Gene: STAT2
Disease: PSEUDO-TORCH SYNDROME 3 (OMIM:618886)
Association type: MENDELIAN
Gene: STAT2
Disease: IMMUNODEFICIENCY 44 (OMIM:616636)
Association type: MENDELIAN
Gene: STAT2
Disease: Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection; Primary immunodeficiency with post-MMR vaccine viral infection (ORPHA:431166)
Association type: UNKNOWN
Gene: CREB3L1
Disease: OSTEOGENESIS IMPERFECTA, TYPE XVI (OMIM:616229)
Association type: MENDELIAN
Gene: CREB3L1
Disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Association type: MENDELIAN
Gene: CREB3L1
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: CREB3L1
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: CREB3L1
Disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Association type: MENDELIAN
Gene: CREB3L1
Disease: Osteogenesis imperfecta type 3; OI type 3; Progressive deforming osteogenesis imperfecta; Severe osteogenesis imperfecta (ORPHA:216812)
Association type: UNKNOWN
Gene: CREB3L1
Disease: Myxofibrosarcoma; Fibromyxosarcoma; Myxoid malignant fibrous histiocytoma (ORPHA:79105)
Association type: UNKNOWN
Gene: PISD
Disease: LIBERFARB SYNDROME (OMIM:618889)
Association type: MENDELIAN
Gene: PISD
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: PISD
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: PISD
Disease: Short stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndrome; Liberfarb syndrome (ORPHA:589442)
Association type: UNKNOWN
Gene: ALG2
Disease: MYASTHENIC SYNDROME, CONGENITAL, 14 (OMIM:616228)
Association type: MENDELIAN
Gene: ALG2
Disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ii (OMIM:607906)
Association type: MENDELIAN
Gene: ALG2
Disease: Congenital myasthenic syndromes with glycosylation defect (ORPHA:353327)
Association type: UNKNOWN
Gene: ALG2
Disease: ALG2-CDG; CDG syndrome type Ii; CDG-Ii; CDG1I; Carbohydrate deficient glycoprotein syndrome type Ii; Congenital disorder of glycosylation type 1i; Congenital disorder of glycosylation type Ii; Mannosyltransferase 2 deficiency (ORPHA:79326)
Association type: UNKNOWN
Gene: SLCO1B3
Disease: HYPERBILIRUBINEMIA, ROTOR TYPE (OMIM:237450)
Association type: MENDELIAN
Gene: SLCO1B3
Disease: Rotor syndrome; Hyperbilirubinemia, Rotor type (ORPHA:3111)
Association type: UNKNOWN
Gene: SLCO1B1
Disease: HYPERBILIRUBINEMIA, ROTOR TYPE (OMIM:237450)
Association type: MENDELIAN
Gene: SLCO1B1
Disease: Rotor syndrome; Hyperbilirubinemia, Rotor type (ORPHA:3111)
Association type: UNKNOWN
Gene: CD40
Disease: IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 3 (OMIM:606843)
Association type: MENDELIAN
Gene: CD40
Disease: Hyper-IgM syndrome type 3; HIGM3; Hyper-IgM syndrome due to CD40 deficiency (ORPHA:101090)
Association type: UNKNOWN
Gene: EED
Disease: COHEN-GIBSON SYNDROME (OMIM:617561)
Association type: MENDELIAN
Gene: EED
Disease: Cohen-Gibson syndrome; EED-related overgrowth syndrome (ORPHA:659396)
Association type: UNKNOWN
Gene: CERS1
Disease: EPILEPSY, PROGRESSIVE MYOCLONIC, 8 (OMIM:616230)
Association type: MENDELIAN
Gene: CERS1
Disease: Progressive myoclonic epilepsy type 8; EPM8; PME type 8; Progressive myoclonic epilepsy due to CERS1 deficiency; Progressive myoclonus epilepsy type 8 (ORPHA:424027)
Association type: UNKNOWN
Gene: NKX6-2
Disease: SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY (OMIM:617560)
Association type: MENDELIAN
Gene: NKX6-2
Disease: NKX6-2-related autosomal recessive hypomyelinating leukodystrophy; Autosomal recessive hypomyelinating leukodystrophy-progressive spastic ataxia; SPAX8 (ORPHA:527497)
Association type: UNKNOWN
Gene: ERAL1
Disease: PERRAULT SYNDROME 6 (OMIM:617565)
Association type: MENDELIAN
Gene: ERAL1
Disease: Perrault syndrome type 2; XX gonadal dysgenesis-deafness syndrome-progressive neurological manifestations (ORPHA:642976)
Association type: UNKNOWN
Gene: ERAL1
Disease: Perrault syndrome type 1; XX gonadal dysgenesis-deafness syndrome-without neurological manifestations (ORPHA:642945)
Association type: UNKNOWN
Gene: PTPN23
Disease: NEURODEVELOPMENTAL DISORDER AND STRUCTURAL BRAIN ANOMALIES WITH OR WITHOUT SEIZURES AND SPASTICITY (OMIM:618890)
Association type: MENDELIAN
Gene: PTPN23
Disease: Non-specific syndromic intellectual disability; Complex neurodevelopmental disorder (ORPHA:528084)
Association type: UNKNOWN
Gene: MCM5
Disease: MEIER-GORLIN SYNDROME 8 (OMIM:617564)
Association type: MENDELIAN
Gene: MCM5
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: MCM5
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: CARS1
Disease: MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME (OMIM:618891)
Association type: MENDELIAN
Gene: CARS1
Disease: Trichothiodystrophy (ORPHA:33364)
Association type: UNKNOWN
Gene: CARS1
Disease: Inflammatory myofibroblastic tumor (ORPHA:178342)
Association type: UNKNOWN
Gene: TMEM107
Disease: OROFACIODIGITAL SYNDROME XVI (OMIM:617563)
Association type: MENDELIAN
Gene: TMEM107
Disease: MECKEL SYNDROME 13 (OMIM:617562)
Association type: MENDELIAN
Gene: TMEM107
Disease: Meckel syndrome; Dysencephalia splanchnocystica; Meckel-Gruber syndrome (ORPHA:564)
Association type: UNKNOWN
Gene: CPOX
Disease: HARDEROPORPHYRIA (OMIM:618892)
Association type: MENDELIAN
Gene: CPOX
Disease: COPROPORPHYRIA, HEREDITARY (OMIM:121300)
Association type: MENDELIAN
Gene: CPOX
Disease: Harderoporphyria (ORPHA:659672)
Association type: UNKNOWN
Gene: CPOX
Disease: Hereditary coproporphyria (ORPHA:79273)
Association type: UNKNOWN
Gene: CASQ1
Disease: MYOPATHY, VACUOLAR, WITH CASQ1 AGGREGATES (OMIM:616231)
Association type: MENDELIAN
Gene: CASQ1
Disease: Tubular aggregate myopathy (ORPHA:2593)
Association type: UNKNOWN
Gene: CASQ1
Disease: Vacuolar myopathy with sarcoplasmic reticulum protein aggregates; Myopathy due to calsequestrin and SERCA1 protein overload; Vacuolar aggregate myopathy (ORPHA:88635)
Association type: UNKNOWN
Gene: KISS1
Disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Association type: MENDELIAN
Gene: KISS1
Disease: HYPOGONADOTROPIC HYPOGONADISM 13 WITH OR WITHOUT ANOSMIA (OMIM:614842)
Association type: MENDELIAN
Gene: KISS1
Disease: Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism; nIHH (ORPHA:432)
Association type: UNKNOWN
Gene: KISS1
Disease: Genetic central precocious puberty in male; Genetic CPP in boy; Genetic CPP in male; Genetic central precocious puberty in boy (ORPHA:650097)
Association type: UNKNOWN
Gene: PROKR2
Disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Association type: MENDELIAN
Gene: PROKR2
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: PROKR2
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: PROKR2
Disease: HYPOGONADOTROPIC HYPOGONADISM 3 WITH OR WITHOUT ANOSMIA (OMIM:244200)
Association type: MENDELIAN
Gene: PROKR2
Disease: Septo-optic dysplasia spectrum; De Morsier syndrome; SOD; Septo-optic dysplasia (ORPHA:3157)
Association type: UNKNOWN
Gene: PROKR2
Disease: Pituitary stalk interruption syndrome; Ectopic neurohypophysis; PSIS (ORPHA:95496)
Association type: UNKNOWN
Gene: PROKR2
Disease: Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia; Olfacto-genital pathological sequence (ORPHA:478)
Association type: UNKNOWN
Gene: PROKR2
Disease: Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism; nIHH (ORPHA:432)
Association type: UNKNOWN
Gene: CCDC141
Disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Association type: MENDELIAN
Gene: CCDC141
Disease: Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia; Olfacto-genital pathological sequence (ORPHA:478)
Association type: UNKNOWN
Gene: SEMA3E
Disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Association type: MENDELIAN
Gene: SEMA3E
Disease: CHARGE syndrome; CHARGE association; Coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome; Hall-Hittner syndrome (ORPHA:138)
Association type: UNKNOWN
Gene: SRA1
Disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Association type: MENDELIAN
Gene: PROK2
Disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Association type: MENDELIAN
Gene: PROK2
Disease: HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA (OMIM:610628)
Association type: MENDELIAN
Gene: PROK2
Disease: Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia; Olfacto-genital pathological sequence (ORPHA:478)
Association type: UNKNOWN
Gene: PROK2
Disease: Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism; nIHH (ORPHA:432)
Association type: UNKNOWN
Gene: NSMF
Disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Association type: MENDELIAN
Gene: NSMF
Disease: HYPOGONADOTROPIC HYPOGONADISM 9 WITH OR WITHOUT ANOSMIA (OMIM:614838)
Association type: MENDELIAN
Gene: NSMF
Disease: Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism; nIHH (ORPHA:432)
Association type: UNKNOWN
Gene: FGFR1
Disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Association type: MENDELIAN
Gene: FGFR1
Disease: ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS (OMIM:613001)
Association type: MENDELIAN
Gene: FGFR1
Disease: TRIGONOCEPHALY 1 (OMIM:190440)
Association type: MENDELIAN
Gene: FGFR1
Disease: HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA (OMIM:147950)
Association type: MENDELIAN
Gene: FGFR1
Disease: HARTSFIELD SYNDROME (OMIM:615465)
Association type: MENDELIAN