TaoMedAI/RareMedData huggingface dataset:
Gene: LGALS2
Disease: MYOCARDIAL INFARCTION, SUSCEPTIBILITY TO (OMIM:608446)
Association type: POLYGENIC
Gene: LRP8
Disease: MYOCARDIAL INFARCTION, SUSCEPTIBILITY TO (OMIM:608446)
Association type: POLYGENIC
Gene: GCLC
Disease: MYOCARDIAL INFARCTION, SUSCEPTIBILITY TO (OMIM:608446)
Association type: POLYGENIC
Gene: GCLC
Disease: GAMMA-GLUTAMYLCYSTEINE SYNTHETASE DEFICIENCY, HEMOLYTIC ANEMIA DUE TO (OMIM:230450)
Association type: MENDELIAN
Gene: GCLC
Disease: Glutamate-cysteine ligase deficiency; Gamma-glutamylcysteine synthetase deficiency (ORPHA:33574)
Association type: UNKNOWN
Gene: GCLC
Disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Association type: UNKNOWN
Gene: CCDC174
Disease: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION (OMIM:616816)
Association type: MENDELIAN
Gene: CCDC174
Disease: Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome (ORPHA:467176)
Association type: UNKNOWN
Gene: CC2D1A
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 3 (OMIM:608443)
Association type: MENDELIAN
Gene: CC2D1A
Disease: Autosomal recessive non-syndromic intellectual disability; AR-NSID; NS-ARID (ORPHA:88616)
Association type: UNKNOWN
Gene: SSBP1
Disease: OPTIC ATROPHY 13 WITH RETINAL AND FOVEAL ABNORMALITIES (OMIM:165510)
Association type: MENDELIAN
Gene: SSBP1
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: MLXIPL
Disease: WILLIAMS-BEUREN SYNDROME (OMIM:194050)
Association type: MENDELIAN
Gene: TMEM147
Disease: NEURODEVELOPMENTAL DISORDER WITH FACIAL DYSMORPHISM, ABSENT LANGUAGE, AND PSEUDO-PELGER-HUET ANOMALY (OMIM:620075)
Association type: MENDELIAN
Gene: TMEM147
Disease:  (ORPHA:698085)
Association type: UNKNOWN
Gene: FRMD4A
Disease: CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND CEREBELLAR ATAXIA (OMIM:616819)
Association type: MENDELIAN
Gene: FRMD4A
Disease: Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome (ORPHA:466688)
Association type: UNKNOWN
Gene: HNRNPH1
Disease: NEURODEVELOPMENTAL DISORDER WITH CRANIOFACIAL DYSMORPHISM AND SKELETAL DEFECTS (OMIM:620083)
Association type: MENDELIAN
Gene: HNRNPH1
Disease: Neurodevelopmental delay-brain malformations-skeletal defects-intellectual disability syndrome; HNRPH1-related neurodevelopmental disorder; Neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects (ORPHA:662207)
Association type: UNKNOWN
Gene: DNAH2
Disease: SPERMATOGENIC FAILURE 45 (OMIM:619094)
Association type: MENDELIAN
Gene: CCDC34
Disease: SPERMATOGENIC FAILURE 76 (OMIM:620084)
Association type: MENDELIAN
Gene: CCDC34
Disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Association type: UNKNOWN
Gene: DNAH8
Disease: SPERMATOGENIC FAILURE 46 (OMIM:619095)
Association type: MENDELIAN
Gene: MORC2
Disease: DEVELOPMENTAL DELAY, IMPAIRED GROWTH, DYSMORPHIC FACIES, AND AXONAL NEUROPATHY (OMIM:619090)
Association type: MENDELIAN
Gene: MORC2
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Z (OMIM:616688)
Association type: MENDELIAN
Gene: MORC2
Disease: Autosomal dominant Charcot-Marie-Tooth disease type 2Z; Autosomal dominant Charcot-Marie-Tooth disease type 2 due to MORC2 mutation; CMT2Z (ORPHA:466768)
Association type: UNKNOWN
Gene: NARS1
Disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, AND GAIT ABNORMALITIES (OMIM:619091)
Association type: MENDELIAN
Gene: NARS1
Disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, EPILEPSY, AND GAIT ABNORMALITIES (OMIM:619092)
Association type: MENDELIAN
Gene: GSS
Disease: GLUTATHIONE SYNTHETASE DEFICIENCY (OMIM:266130)
Association type: MENDELIAN
Gene: GSS
Disease: GLUTATHIONE SYNTHETASE DEFICIENCY OF ERYTHROCYTES, HEMOLYTIC ANEMIA DUE TO (OMIM:231900)
Association type: MENDELIAN
Gene: GSS
Disease: Glutathione synthetase deficiency without 5-oxoprolinuria (ORPHA:289849)
Association type: UNKNOWN
Gene: GSS
Disease: Glutathione synthetase deficiency with 5-oxoprolinuria (ORPHA:289846)
Association type: UNKNOWN
Gene: CLDN9
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 116 (OMIM:619093)
Association type: MENDELIAN
Gene: NEMF
Disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY AND AXONAL PERIPHERAL NEUROPATHY (OMIM:619099)
Association type: MENDELIAN
Gene: NEMF
Disease: Autosomal recessive non-syndromic intellectual disability; AR-NSID; NS-ARID (ORPHA:88616)
Association type: UNKNOWN
Gene: VMA12
Disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIp (OMIM:616829)
Association type: MENDELIAN
Gene: VMA12
Disease: TMEM199-CDG; CDG syndrome type IIp; CDG-IIp; CDG2P; Carbohydrate deficient glycoprotein syndrome type IIp; Congenital disorder of glycosylation type 2p; Congenital disorder of glycosylation type IIp (ORPHA:466703)
Association type: UNKNOWN
Gene: VMA22
Disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIo (OMIM:616828)
Association type: MENDELIAN
Gene: VMA22
Disease: CCDC115-CDG; CDG syndrome type IIo; CDG-IIo; CDG2O; Carbohydrate deficient glycoprotein syndrome type IIo; Congenital disorder of glycosylation type 2o; Congenital disorder of glycosylation type IIo (ORPHA:468684)
Association type: UNKNOWN
Gene: MYO3A
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 30 (OMIM:607101)
Association type: MENDELIAN
Gene: MYO3A
Disease: DEAFNESS, AUTOSOMAL DOMINANT 90 (OMIM:620722)
Association type: MENDELIAN
Gene: MYO3A
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: LIMS2
Disease: MUSCULAR DYSTROPHY, AUTOSOMAL RECESSIVE, WITH CARDIOMYOPATHY AND TRIANGULAR TONGUE (OMIM:616827)
Association type: MENDELIAN
Gene: ATP5F1B
Disease: HYPERMETABOLISM DUE TO UNCOUPLED MITOCHONDRIAL OXIDATIVE PHOSPHORYLATION 2 (OMIM:620085)
Association type: MENDELIAN
Gene: MTSS2
Disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH OCULAR ANOMALIES AND DISTINCTIVE FACIAL FEATURES (OMIM:620086)
Association type: MENDELIAN
Gene: FRMD5
Disease: NEURODEVELOPMENTAL DISORDER WITH EYE MOVEMENT ABNORMALITIES AND ATAXIA (OMIM:620094)
Association type: MENDELIAN
Gene: NT5C3A
Disease: URIDINE 5-PRIME MONOPHOSPHATE HYDROLASE DEFICIENCY, HEMOLYTIC ANEMIA DUE TO (OMIM:266120)
Association type: MENDELIAN
Gene: NT5C3A
Disease: Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency; P5N deficiency; UMPH1 deficiency; Uridine 5'-monophosphate hydrolase deficiency (ORPHA:35120)
Association type: UNKNOWN
Gene: CFAP298
Disease: CILIARY DYSKINESIA, PRIMARY, 26 (OMIM:615500)
Association type: MENDELIAN
Gene: CFAP298
Disease: Primary ciliary dyskinesia; PCD (ORPHA:244)
Association type: UNKNOWN
Gene: GPHN
Disease: MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP C (OMIM:615501)
Association type: MENDELIAN
Gene: GPHN
Disease: HYPEREKPLEXIA 1 (OMIM:149400)
Association type: MENDELIAN
Gene: GPHN
Disease: Hereditary hyperekplexia; Congenital stiff man syndrome; Familial startle disease; Hereditary hyperexplexia; Kok disease; Stiff baby syndrome (ORPHA:3197)
Association type: UNKNOWN
Gene: GPHN
Disease: Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C; Combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type C; MOCOD type C (ORPHA:308400)
Association type: UNKNOWN
Gene: DRC2
Disease: CILIARY DYSKINESIA, PRIMARY, 27 (OMIM:615504)
Association type: MENDELIAN
Gene: DRC2
Disease: Primary ciliary dyskinesia; PCD (ORPHA:244)
Association type: UNKNOWN
Gene: GMNN
Disease: MEIER-GORLIN SYNDROME 6 (OMIM:616835)
Association type: MENDELIAN
Gene: GMNN
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: GMNN
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: GMNN
Disease: Ear-patella-short stature syndrome; Meier-Gorlin syndrome (ORPHA:2554)
Association type: UNKNOWN
Gene: SPAG1
Disease: CILIARY DYSKINESIA, PRIMARY, 28 (OMIM:615505)
Association type: MENDELIAN
Gene: SPAG1
Disease: Primary ciliary dyskinesia; PCD (ORPHA:244)
Association type: UNKNOWN
Gene: MSMO1
Disease: MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS (OMIM:616834)
Association type: MENDELIAN
Gene: MSMO1
Disease: Microcephaly-congenital cataract-psoriasiform dermatitis syndrome; SMO deficiency; Sterol-C4-methyl oxidase deficiency (ORPHA:488168)
Association type: UNKNOWN
Gene: CTCF
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 21 (OMIM:615502)
Association type: MENDELIAN
Gene: CTCF
Disease: CTCF-related neurodevelopmental disorder (ORPHA:363611)
Association type: UNKNOWN
Gene: ZNF687
Disease: PAGET DISEASE OF BONE 6 (OMIM:616833)
Association type: MENDELIAN
Gene: DYNC2I1
Disease: SHORT-RIB THORACIC DYSPLASIA 8 WITH OR WITHOUT POLYDACTYLY (OMIM:615503)
Association type: MENDELIAN
Gene: DYNC2I1
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: DYNC2I1
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: DYNC2I1
Disease: Short rib-polydactyly syndrome, Verma-Naumoff type; Short rib-polydactyly syndrome type 3 (ORPHA:93271)
Association type: UNKNOWN
Gene: DYNC2I1
Disease: Jeune syndrome; Asphyxiating thoracic dystrophy of the newborn; JATD; Jeune asphyxiating thoracic dystrophy (ORPHA:474)
Association type: UNKNOWN
Gene: TNPO3
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 2 (OMIM:608423)
Association type: MENDELIAN
Gene: TNPO3
Disease: TNP03-related limb-girdle muscular dystrophy D2; Autosomal dominant limb-girdle muscular dystrophy type 1F; LGMD type 1F; LGMD1F; Limb-girdle muscular dystrophy type 1F (ORPHA:55595)
Association type: UNKNOWN
Gene: TNPO3
Disease: Primary biliary cholangitis; Hanot syndrome; PBC; Primary biliary cirrhosis (ORPHA:186)
Association type: UNKNOWN
Gene: SLC25A32
Disease: EXERCISE INTOLERANCE, RIBOFLAVIN-RESPONSIVE (OMIM:616839)
Association type: MENDELIAN
Gene: SLC25A32
Disease: Multiple acyl-CoA dehydrogenase deficiency, mild type; Glutaric aciduria type 2, mild type; MAD deficiency, mild type; MADD, mild type (ORPHA:394532)
Association type: UNKNOWN
Gene: GDF2
Disease: TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 5 (OMIM:615506)
Association type: MENDELIAN
Gene: GDF2
Disease: Heritable pulmonary arterial hypertension; FPAH; Familial pulmonary arterial hypertension; HPAH; Hereditary pulmonary arterial hypertension (ORPHA:275777)
Association type: UNKNOWN
Gene: GDF2
Disease: Hereditary hemorrhagic telangiectasia; HHT; Rendu-Osler disease; Rendu-Osler-Weber disease (ORPHA:774)
Association type: UNKNOWN
Gene: JARID2
Disease: DEVELOPMENTAL DELAY WITH VARIABLE INTELLECTUAL DISABILITY AND DYSMORPHIC FACIES (OMIM:620098)
Association type: MENDELIAN
Gene: JARID2
Disease: Non-specific syndromic intellectual disability; Complex neurodevelopmental disorder (ORPHA:528084)
Association type: UNKNOWN
Gene: CBFB
Disease: CLEIDOCRANIAL DYSPLASIA 2 (OMIM:620099)
Association type: MENDELIAN
Gene: CBFB
Disease: Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22); AML with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) (ORPHA:98829)
Association type: UNKNOWN
Gene: RGS9
Disease: PROLONGED ELECTRORETINAL RESPONSE SUPPRESSION (OMIM:608415)
Association type: MENDELIAN
Gene: RGS9
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: RGS9
Disease: Bradyopsia; PERRS; Prolonged electroretinal response suppression (ORPHA:75374)
Association type: UNKNOWN
Gene: CFP
Disease: PROPERDIN DEFICIENCY, X-LINKED (OMIM:312060)
Association type: MENDELIAN
Gene: CFP
Disease: Properdin deficiency (ORPHA:2966)
Association type: UNKNOWN
Gene: AMPD1
Disease: MYOPATHY DUE TO MYOADENYLATE DEAMINASE DEFICIENCY (OMIM:615511)
Association type: MENDELIAN
Gene: AMPD1
Disease: Adenosine monophosphate deaminase deficiency; AMP deaminase deficiency; Myoadenylate deaminase deficiency (ORPHA:45)
Association type: UNKNOWN
Gene: TPI1
Disease: TRIOSEPHOSPHATE ISOMERASE DEFICIENCY (OMIM:615512)
Association type: MENDELIAN
Gene: TPI1
Disease: Triose phosphate-isomerase deficiency (ORPHA:868)
Association type: UNKNOWN
Gene: VPS13C
Disease: PARKINSON DISEASE 23, AUTOSOMAL RECESSIVE EARLY-ONSET (OMIM:616840)
Association type: MENDELIAN
Gene: VPS13C
Disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Association type: UNKNOWN
Gene: GMPPA
Disease: ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME (OMIM:615510)
Association type: MENDELIAN
Gene: GMPPA
Disease: Triple A syndrome; 2A syndrome; 3A syndrome; 4A syndrome; AAA syndrome; Achalasia-addisonianism-alacrima syndrome; Adrenal insufficiency-achalasia-alacrima syndrome; Allgrove syndrome; Double A syndrome; Quaternary A syndrome (ORPHA:869)
Association type: UNKNOWN
Gene: ERBB4
Disease: AMYOTROPHIC LATERAL SCLEROSIS 19 (OMIM:615515)
Association type: MENDELIAN
Gene: ERBB4
Disease: Autosomal dominant non-syndromic intellectual disability (ORPHA:178469)
Association type: UNKNOWN
Gene: ERBB4
Disease: Amyotrophic lateral sclerosis; ALS; Charcot disease; Lou Gehrig disease (ORPHA:803)
Association type: UNKNOWN
Gene: PIK3CD
Disease: IMMUNODEFICIENCY 14 (OMIM:615513)
Association type: MENDELIAN
Gene: PIK3CD
Disease: ROIFMAN-CHITAYAT SYNDROME (OMIM:613328)
Association type: MENDELIAN
Gene: PIK3CD
Disease: IMMUNODEFICIENCY 14B, AUTOSOMAL RECESSIVE (OMIM:619281)
Association type: MENDELIAN
Gene: PIK3CD
Disease:  (ORPHA:693661)
Association type: UNKNOWN
Gene: PIK3CD
Disease: Combined immunodeficiency with facio-oculo-skeletal anomalies; Roifman-Chitayat syndrome (ORPHA:221139)
Association type: UNKNOWN
Gene: PIK3CD
Disease: Autosomal agammaglobulinemia; Agammaglobulinemia, non-Bruton type (ORPHA:33110)
Association type: UNKNOWN
Gene: FTH1
Disease: HEMOCHROMATOSIS, TYPE 5 (OMIM:615517)
Association type: MENDELIAN
Gene: FTH1
Disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 9 (OMIM:620669)
Association type: MENDELIAN
Gene: FTH1
Disease: FTH1-related iron overload; FTH1-associated iron overload (ORPHA:247790)
Association type: UNKNOWN
Gene: CRYBB3
Disease: CATARACT 22, MULTIPLE TYPES (OMIM:609741)
Association type: MENDELIAN
Gene: CRYBB3
Disease: Early-onset nuclear cataract (ORPHA:98991)
Association type: UNKNOWN
Gene: CRYBB3
Disease: Early-onset anterior polar cataract; Early-onset anterior subcapsular cataract (ORPHA:98988)
Association type: UNKNOWN
Gene: UNC119
Disease: IMMUNODEFICIENCY 13 (OMIM:615518)
Association type: MENDELIAN
Gene: UNC119
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: UNC119
Disease: CONE-ROD DYSTROPHY 24 (OMIM:620342)
Association type: MENDELIAN
Gene: UNC119
Disease: Idiopathic CD4 lymphocytopenia (ORPHA:228000)
Association type: UNKNOWN
Gene: UNC119
Disease: Cone rod dystrophy (ORPHA:1872)
Association type: UNKNOWN
Gene: CACNA1F
Disease: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A (OMIM:300071)
Association type: MENDELIAN
Gene: CACNA1F
Disease: CONE-ROD DYSTROPHY, X-LINKED, 3 (OMIM:300476)
Association type: MENDELIAN
Gene: CACNA1F
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: CACNA1F
Disease: ALAND ISLAND EYE DISEASE (OMIM:300600)
Association type: MENDELIAN
Gene: CACNA1F
Disease: Congenital stationary night blindness; Congenital essential nyctalopia (ORPHA:215)
Association type: UNKNOWN
Gene: CACNA1F
Disease: Åland Islands eye disease; AIED; Forsius-Eriksson syndrome; Forsius-Eriksson type ocular albinism (ORPHA:178333)
Association type: UNKNOWN
Gene: CACNA1F
Disease: Cone rod dystrophy (ORPHA:1872)
Association type: UNKNOWN
Gene: XIST
Disease: X INACTIVATION, FAMILIAL SKEWED, 1 (OMIM:300087)
Association type: MENDELIAN
Gene: NAT2
Disease: ACETYLATION, SLOW (OMIM:243400)
Association type: MENDELIAN
Gene: POMC
Disease: OBESITY, EARLY-ONSET, WITH ADRENAL INSUFFICIENCY AND RED HAIR (OMIM:609734)
Association type: MENDELIAN
Gene: POMC
Disease: OBESITY (OMIM:601665)
Association type: POLYGENIC
Gene: POMC
Disease: Obesity due to pro-opiomelanocortin deficiency; POMC deficiency (ORPHA:71526)
Association type: UNKNOWN
Gene: CD36
Disease: PLATELET GLYCOPROTEIN IV DEFICIENCY (OMIM:608404)
Association type: MENDELIAN
Gene: CD36
Disease: CORONARY HEART DISEASE, SUSCEPTIBILITY TO, 7 (OMIM:610938)
Association type: POLYGENIC
Gene: CD36
Disease: MALARIA, SUSCEPTIBILITY TO (OMIM:611162)
Association type: POLYGENIC
Gene: PCDH19
Disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 9 (OMIM:300088)
Association type: MENDELIAN
Gene: PCDH19
Disease: Female restricted epilepsy with intellectual disability; EFMR; Juberg-Hellman syndrome (ORPHA:101039)
Association type: UNKNOWN
Gene: PCDH19
Disease: Dravet syndrome; SMEI; Severe myoclonic epilepsy of infancy; Severe myoclonus epilepsy of infancy (ORPHA:33069)
Association type: UNKNOWN
Gene: AGBL1
Disease: CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 8 (OMIM:615523)
Association type: MENDELIAN
Gene: AGBL1
Disease: Fuchs endothelial corneal dystrophy; Endoepithelial corneal dystrophy; FECD; Late hereditary endothelial dystrophy (ORPHA:98974)
Association type: UNKNOWN
Gene: SIPA1L3
Disease: CATARACT 45 (OMIM:616851)
Association type: MENDELIAN
Gene: SIPA1L3
Disease: Total early-onset cataract (ORPHA:98994)
Association type: UNKNOWN
Gene: TRAF3IP2
Disease: CANDIDIASIS, FAMILIAL, 8 (OMIM:615527)
Association type: MENDELIAN
Gene: TRAF3IP2
Disease: PSORIASIS 13, SUSCEPTIBILITY TO (OMIM:614070)
Association type: POLYGENIC
Gene: TRAF3IP2
Disease: Chronic mucocutaneous candidiasis; CMC (ORPHA:1334)
Association type: UNKNOWN
Gene: RARB
Disease: MICROPHTHALMIA, SYNDROMIC 12 (OMIM:615524)
Association type: MENDELIAN
Gene: RARB
Disease: Microphthalmia-motor delay-language delay-brain anomalies-diaphragmatic hernia syndrome (ORPHA:689829)
Association type: UNKNOWN
Gene: DNAJC6
Disease: PARKINSON DISEASE 19A, JUVENILE-ONSET (OMIM:615528)
Association type: MENDELIAN
Gene: DNAJC6
Disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Association type: UNKNOWN
Gene: DNAJC6
Disease: Atypical juvenile parkinsonism (ORPHA:391411)
Association type: UNKNOWN
Gene: GLRX5
Disease: SPASTICITY, CHILDHOOD-ONSET, WITH HYPERGLYCINEMIA (OMIM:616859)
Association type: MENDELIAN
Gene: GLRX5
Disease: ANEMIA, SIDEROBLASTIC, 3, PYRIDOXINE-REFRACTORY (OMIM:616860)
Association type: MENDELIAN
Gene: GLRX5
Disease: Childhood-onset spasticity with hyperglycinemia; Childhood-onset spasticity with variant non-ketotic hyperglycinemia; Spasticity-ataxia-gait anomalies syndrome (ORPHA:401866)
Association type: UNKNOWN
Gene: GLRX5
Disease: Adult-onset autosomal recessive sideroblastic anemia; GLRX5-related sideroblastic anemia (ORPHA:255132)
Association type: UNKNOWN
Gene: ALX4
Disease: CRANIOSYNOSTOSIS 5, SUSCEPTIBILITY TO (OMIM:615529)
Association type: POLYGENIC
Gene: ALX4
Disease: PARIETAL FORAMINA 2 (OMIM:609597)
Association type: MENDELIAN
Gene: ALX4
Disease: FRONTONASAL DYSPLASIA 2 (OMIM:613451)
Association type: MENDELIAN
Gene: ALX4
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: ALX4
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: ALX4
Disease: Frontonasal dysplasia-alopecia-genital anomalies syndrome; ALX4-related FNDAG; Craniofrontonasal dysplasia with alopecia and hypogonadism; Frontonasal dysplasia type 2; Frontonasal dysplasia with alopecia and genital abnomality (ORPHA:228390)
Association type: UNKNOWN
Gene: ALX4
Disease: Enlarged parietal foramina; Catlin marks; Fenestrae parietales symmetricae; Foramina parietalia permagna; Hereditary cranium bifidum; Symmetric parietal foramina (ORPHA:60015)
Association type: UNKNOWN
Gene: ALX4
Disease: Non-syndromic sagittal craniosynostosis; Isolated sagittal craniosynostosis; Isolated scaphocephaly; Non-syndromic sagittal suture synostosis (ORPHA:35093)
Association type: UNKNOWN
Gene: ALX4
Disease: Potocki-Shaffer syndrome; 11p11.2 deletion; Proximal 11p deletion syndrome (ORPHA:52022)
Association type: UNKNOWN
Gene: MECP2
Disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC 13 (OMIM:300055)
Association type: MENDELIAN
Gene: MECP2
Disease: AUTISM, SUSCEPTIBILITY TO, X-LINKED 3 (OMIM:300496)
Association type: POLYGENIC
Gene: MECP2
Disease: LUBS X-LINKED MENTAL RETARDATION SYNDROME (OMIM:300260)
Association type: MENDELIAN
Gene: MECP2
Disease: RETT SYNDROME (OMIM:312750)
Association type: MENDELIAN
Gene: MECP2
Disease: ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS (OMIM:300673)
Association type: MENDELIAN
Gene: MECP2
Disease: Atypical Rett syndrome; Atypical RTT; Rett syndrome variant (ORPHA:3095)
Association type: UNKNOWN
Gene: MECP2
Disease: X-linked intellectual disability-psychosis-macroorchidism syndrome; Lindsay-Burn syndrome; PPM-X (ORPHA:3077)
Association type: UNKNOWN
Gene: MECP2
Disease: Rett syndrome (ORPHA:778)
Association type: UNKNOWN
Gene: MECP2
Disease: X-linked non-syndromic intellectual disability (ORPHA:777)
Association type: UNKNOWN
Gene: MECP2
Disease: Systemic lupus erythematosus; Disseminated lupus erythematosus; SLE (ORPHA:536)
Association type: UNKNOWN
Gene: MECP2
Disease: Severe neonatal-onset encephalopathy with microcephaly; Severe congenital encephalopathy due to MECP2 mutation (ORPHA:209370)
Association type: UNKNOWN
Gene: MECP2
Disease: Proximal Xq28 duplication syndrome; MECP2 duplication syndrome; X-linked intellectual disability syndrome, Lubs type (ORPHA:1762)
Association type: UNKNOWN
Gene: SYNJ1
Disease: PARKINSON DISEASE 20, EARLY-ONSET (OMIM:615530)
Association type: MENDELIAN
Gene: SYNJ1
Disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 53 (OMIM:617389)
Association type: MENDELIAN
Gene: SYNJ1
Disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Association type: UNKNOWN
Gene: SYNJ1
Disease: Atypical juvenile parkinsonism (ORPHA:391411)
Association type: UNKNOWN
Gene: SYNJ1
Disease: Non-specific early-onset epileptic encephalopathy; Non-specific EOEE; Undetermined EOEE; Undetermined early-onset epileptic encephalopathy (ORPHA:442835)
Association type: UNKNOWN
Gene: MAN1B1
Disease: RAFIQ SYNDROME (OMIM:614202)
Association type: MENDELIAN
Gene: MAN1B1
Disease: Autosomal recessive non-syndromic intellectual disability; AR-NSID; NS-ARID (ORPHA:88616)
Association type: UNKNOWN
Gene: MAN1B1
Disease: MAN1B1-CDG; Carbohydrate deficient glycoprotein syndrome type II due to MAN1B1 deficiency; Congenital disorder of glycosylation type 2 due to MAN1B1 deficiency; Congenital disorder of glycosylation type II due to MAN1B1 deficiency; Intellectual disability-truncal obesity syndrome (ORPHA:397941)
Association type: UNKNOWN
Gene: FTCD
Disease: GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY (OMIM:229100)
Association type: MENDELIAN
Gene: FTCD
Disease: Formiminoglutamic aciduria; FTCD deficiency; Formiminotransferase cyclodeaminase deficiency; Glutamate formiminotransferase deficiency (ORPHA:51208)
Association type: UNKNOWN
Gene: VPS35
Disease: PARKINSON DISEASE 17 (OMIM:614203)
Association type: POLYGENIC
Gene: VPS35
Disease: Hereditary late-onset Parkinson disease; Autosomal dominant late-onset Parkinson disease; LOPD (ORPHA:411602)
Association type: UNKNOWN
Gene: USP7
Disease: HAO-FOUNTAIN SYNDROME (OMIM:616863)
Association type: MENDELIAN
Gene: USP7
Disease: Hao-Fountain syndrome due to 16p13.2 microdeletion; Chromosome 16p13.2 deletion syndrome; Del(16)(p13.2); Monosomy 16p13.2 (ORPHA:500055)
Association type: UNKNOWN
Gene: USP7
Disease: Hao-Fountain syndrome due to USP7 mutation; HAFOUS due to USP7 mutation (ORPHA:643538)
Association type: UNKNOWN