TaoMedAI/RareMedData huggingface dataset:
Gene: FBP1
Disease: Fructose-1,6-bisphosphatase deficiency; FBPase deficiency; Fructose-1,6-diphosphatase deficiency (ORPHA:348)
Association type: UNKNOWN
Gene: PFN1
Disease: AMYOTROPHIC LATERAL SCLEROSIS 18 (OMIM:614808)
Association type: MENDELIAN
Gene: PFN1
Disease: Amyotrophic lateral sclerosis; ALS; Charcot disease; Lou Gehrig disease (ORPHA:803)
Association type: UNKNOWN
Gene: CFHR5
Disease: C3 GLOMERULOPATHY 3 (OMIM:614809)
Association type: MENDELIAN
Gene: CFHR5
Disease: C3 glomerulonephritis (ORPHA:329931)
Association type: UNKNOWN
Gene: CCDC78
Disease: MYOPATHY, CENTRONUCLEAR, 4 (OMIM:614807)
Association type: MENDELIAN
Gene: CCDC78
Disease: Congenital myopathy with internal nuclei and atypical cores; CNM4; Centronuclear myopathy type 4 (ORPHA:319160)
Association type: UNKNOWN
Gene: CARD14
Disease: PSORIASIS 2 (OMIM:602723)
Association type: MENDELIAN
Gene: CARD14
Disease: PITYRIASIS RUBRA PILARIS (OMIM:173200)
Association type: MENDELIAN
Gene: CARD14
Disease: Pityriasis rubra pilaris (ORPHA:2897)
Association type: UNKNOWN
Gene: ATP6V0A4
Disease: RENAL TUBULAR ACIDOSIS, DISTAL, 3, WITH OR WITHOUT SENSORINEURAL HEARING LOSS (OMIM:602722)
Association type: MENDELIAN
Gene: ATP6V0A4
Disease: Autosomal recessive distal renal tubular acidosis; AR dRTA; Autosomal recessive distal RTA (ORPHA:402041)
Association type: UNKNOWN
Gene: DYNC2LI1
Disease: SHORT-RIB THORACIC DYSPLASIA 15 WITH POLYDACTYLY (OMIM:617088)
Association type: MENDELIAN
Gene: DYNC2LI1
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: DYNC2LI1
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: DYNC2LI1
Disease: Ellis Van Creveld syndrome; Chondroectodermal dysplasia; Mesodermic dysplasia (ORPHA:289)
Association type: UNKNOWN
Gene: DYNC2LI1
Disease: Jeune syndrome; Asphyxiating thoracic dystrophy of the newborn; JATD; Jeune asphyxiating thoracic dystrophy (ORPHA:474)
Association type: UNKNOWN
Gene: MFF
Disease: ENCEPHALOPATHY DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 2 (OMIM:617086)
Association type: MENDELIAN
Gene: MFF
Disease: MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect; Leigh-like basal ganglia disease-optic atrophy-peripheral neuropathy syndrome; Leigh-like encephalopathy-optic atrophy-peripheral neuropathy syndrome (ORPHA:485421)
Association type: UNKNOWN
Gene: TCTN3
Disease: JOUBERT SYNDROME 18 (OMIM:614815)
Association type: MENDELIAN
Gene: TCTN3
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: TCTN3
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: TCTN3
Disease: OROFACIODIGITAL SYNDROME IV (OMIM:258860)
Association type: MENDELIAN
Gene: TCTN3
Disease: Orofaciodigital syndrome type 4; Baraitser-Burn syndrome; Mohr-Majewski syndrome; OFD4; Oral-facial-digital syndrome type 4 (ORPHA:2753)
Association type: UNKNOWN
Gene: TCTN3
Disease: Orofaciodigital syndrome type 6; Joubert syndrome with oral-facial-digital syndrome; Joubert syndrome with orofaciodigital defect; OFD6; Oral-facial-digital syndrome type 6; Polydactyly-cleft lip/palate-psychomotor retardation syndrome; Váradi syndrome; Váradi-Papp syndrome (ORPHA:2754)
Association type: UNKNOWN
Gene: TCTN3
Disease: Meckel syndrome; Dysencephalia splanchnocystica; Meckel-Gruber syndrome (ORPHA:564)
Association type: UNKNOWN
Gene: TCTN3
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: POC1A
Disease: SHORT STATURE, ONYCHODYSPLASIA, FACIAL DYSMORPHISM, AND HYPOTRICHOSIS (OMIM:614813)
Association type: MENDELIAN
Gene: POC1A
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: POC1A
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: POC1A
Disease: Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome; SOFT syndrome (ORPHA:314394)
Association type: UNKNOWN
Gene: RBPJ
Disease: ADAMS-OLIVER SYNDROME 3 (OMIM:614814)
Association type: MENDELIAN
Gene: RBPJ
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: RBPJ
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: RBPJ
Disease: Adams-Oliver syndrome; AOS; Aplasia cutis congenita with distal limb anomalies; Aplasia cutis congenita with terminal transverse limb defects; Congenital scalp defects with distal limb anomalies; Congenital scalp defects with distal limb reduction anomalies (ORPHA:974)
Association type: UNKNOWN
Gene: FAN1
Disease: INTERSTITIAL NEPHRITIS, KARYOMEGALIC (OMIM:614817)
Association type: MENDELIAN
Gene: FAN1
Disease: Karyomegalic interstitial nephritis; KIN; Systemic karyomegaly (ORPHA:401996)
Association type: UNKNOWN
Gene: ECE1
Disease: HYPERTENSION, ESSENTIAL (OMIM:145500)
Association type: POLYGENIC
Gene: ECE1
Disease: HIRSCHSPRUNG DISEASE, CARDIAC DEFECTS, AND AUTONOMIC DYSFUNCTION (OMIM:613870)
Association type: MENDELIAN
Gene: ECE1
Disease: Hirschsprung disease; Aganglionic megacolon; Colonic aganglionosis; Congenital intestinal aganglionosis; HSCR (ORPHA:388)
Association type: UNKNOWN
Gene: PTGIS
Disease: HYPERTENSION, ESSENTIAL (OMIM:145500)
Association type: MENDELIAN
Gene: CYP3A5
Disease: HYPERTENSION, ESSENTIAL (OMIM:145500)
Association type: POLYGENIC
Gene: ATP1B1
Disease: HYPERTENSION, ESSENTIAL (OMIM:145500)
Association type: MENDELIAN
Gene: RGS5
Disease: HYPERTENSION, ESSENTIAL (OMIM:145500)
Association type: MENDELIAN
Gene: ADD1
Disease: HYPERTENSION, ESSENTIAL (OMIM:145500)
Association type: POLYGENIC
Gene: SIL1
Disease: MARINESCO-SJOGREN SYNDROME (OMIM:248800)
Association type: MENDELIAN
Gene: SIL1
Disease: Marinesco-Sjögren syndrome (ORPHA:559)
Association type: UNKNOWN
Gene: FOXF1
Disease: ALVEOLAR CAPILLARY DYSPLASIA WITH MISALIGNMENT OF PULMONARY VEINS (OMIM:265380)
Association type: MENDELIAN
Gene: FOXF1
Disease: Congenital alveolar capillary dysplasia; ACDMPV; Alveolar capillary dysplasia with misalignment of pulmonary veins; Alveolar capillary dysplasia with misalignment of pulmonary vessels (ORPHA:210122)
Association type: UNKNOWN
Gene: CUL4B
Disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, CABEZAS TYPE (OMIM:300354)
Association type: MENDELIAN
Gene: CUL4B
Disease: X-linked intellectual disability, Cabezas type; Cabezas syndrome (ORPHA:85293)
Association type: UNKNOWN
Gene: SLC6A8
Disease: CEREBRAL CREATINE DEFICIENCY SYNDROME 1 (OMIM:300352)
Association type: MENDELIAN
Gene: SLC6A8
Disease: X-linked creatine transporter deficiency; Creatine transporter deficiency; SLC6A8 deficiency (ORPHA:52503)
Association type: UNKNOWN
Gene: MTO1
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 10 (OMIM:614702)
Association type: MENDELIAN
Gene: MTO1
Disease: Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency; COXPD10; Combined oxidative phosphorylation defect type 10 (ORPHA:314637)
Association type: UNKNOWN
Gene: LRBA
Disease: IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY (OMIM:614700)
Association type: MENDELIAN
Gene: LRBA
Disease: Combined immunodeficiency due to LRBA deficiency; CID due to LRBA deficiency (ORPHA:445018)
Association type: UNKNOWN
Gene: GRN
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 11 (OMIM:614706)
Association type: MENDELIAN
Gene: GRN
Disease: FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, GRN-RELATED (OMIM:607485)
Association type: MENDELIAN
Gene: GRN
Disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Association type: UNKNOWN
Gene: GRN
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: GRN
Disease: Semantic dementia; Semantic primary progressive aphasia; Semantic variant PPA (ORPHA:100069)
Association type: UNKNOWN
Gene: GRN
Disease: CLN11 disease; Neuronal ceroid lipofuscinosis type 11 (ORPHA:314629)
Association type: UNKNOWN
Gene: SLC52A2
Disease: BROWN-VIALETTO-VAN LAERE SYNDROME 2 (OMIM:614707)
Association type: MENDELIAN
Gene: SLC52A2
Disease: RFVT2-related riboflavin transporter deficiency; RTD2; Riboflavin transporter deficiency 2 (ORPHA:572543)
Association type: UNKNOWN
Gene: LMBRD1
Disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblF TYPE (OMIM:277380)
Association type: MENDELIAN
Gene: LMBRD1
Disease: Methylmalonic acidemia with homocystinuria type cblF; CblF defect; Cobalamin F defect; Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblF; Lysosomal membrane cobalamin transporter deficiency; Methylmalonic aciduria with homocystinuria, type cblF (ORPHA:79284)
Association type: UNKNOWN
Gene: RNF216
Disease: GORDON HOLMES SYNDROME (OMIM:212840)
Association type: MENDELIAN
Gene: RNF216
Disease: Cerebellar ataxia-hypogonadism syndrome; Gordon-Holmes syndrome; Luteinizing hormone-releasing hormone deficiency with ataxia (ORPHA:1173)
Association type: UNKNOWN
Gene: MVD
Disease: POROKERATOSIS 7, MULTIPLE TYPES (OMIM:614714)
Association type: MENDELIAN
Gene: MVD
Disease: Disseminated superficial actinic porokeratosis (ORPHA:79152)
Association type: UNKNOWN
Gene: MT-TS2
Disease: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES (OMIM:540000)
Association type: MENDELIAN
Gene: MT-TS2
Disease: MYOCLONIC EPILEPSY ASSOCIATED WITH RAGGED-RED FIBERS (OMIM:545000)
Association type: MENDELIAN
Gene: MT-TS2
Disease: MERRF; Fukuhara syndrome; Myoclonus epilepsy associated with ragged-red fibres (ORPHA:551)
Association type: UNKNOWN
Gene: MT-TS2
Disease: MELAS; Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes; Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes; Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (ORPHA:550)
Association type: UNKNOWN
Gene: MT-TS2
Disease: Usher syndrome type 3; USH3 (ORPHA:231183)
Association type: UNKNOWN
Gene: MT-TL1
Disease: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES (OMIM:540000)
Association type: MENDELIAN
Gene: MT-TL1
Disease: MYOCLONIC EPILEPSY ASSOCIATED WITH RAGGED-RED FIBERS (OMIM:545000)
Association type: MENDELIAN
Gene: MT-TL1
Disease: Hypertrophic cardiomyopathy with kidney anomalies due to mitochondrial DNA mutation; Hypertrophic cardiomyopathy with kidney anomalies due to mtDNA mutation; Hypertrophic cardiomyopathy with renal anomalies due to mitochondrial DNA mutation (ORPHA:324525)
Association type: UNKNOWN
Gene: MT-TL1
Disease: Mitochondrial DNA-related progressive external ophthalmoplegia; Maternally-inherited CPEO; Maternally-inherited chronic progressive external ophthalmoplegia; mtDNA-related progressive external ophthalmoplegia (ORPHA:663)
Association type: UNKNOWN
Gene: MT-TL1
Disease: MERRF; Fukuhara syndrome; Myoclonus epilepsy associated with ragged-red fibres (ORPHA:551)
Association type: UNKNOWN
Gene: MT-TL1
Disease: MELAS; Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes; Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes; Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (ORPHA:550)
Association type: UNKNOWN
Gene: MT-TL1
Disease: Mitochondrial DNA-associated Leigh syndrome; MILS; Maternally-inherited Leigh disease; Maternally-inherited infantile subacute necrotizing encephalopathy; mtDNA-associated Leigh syndrome (ORPHA:255210)
Association type: UNKNOWN
Gene: MT-TL1
Disease: Kearns-Sayre syndrome (ORPHA:480)
Association type: UNKNOWN
Gene: MT-TL2
Disease: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES (OMIM:540000)
Association type: MENDELIAN
Gene: MT-TL2
Disease: Mitochondrial DNA-related progressive external ophthalmoplegia; Maternally-inherited CPEO; Maternally-inherited chronic progressive external ophthalmoplegia; mtDNA-related progressive external ophthalmoplegia (ORPHA:663)
Association type: UNKNOWN
Gene: MT-TL2
Disease: Alternating hemiplegia of childhood; AHC (ORPHA:2131)
Association type: UNKNOWN
Gene: MT-CO2
Disease: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES (OMIM:540000)
Association type: MENDELIAN
Gene: MT-CO2
Disease: Isolated cytochrome C oxidase deficiency; Isolated COX deficiency; Isolated mitochondrial respiratory chain complex IV deficiency (ORPHA:254905)
Association type: UNKNOWN
Gene: MT-CO2
Disease: MELAS; Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes; Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes; Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (ORPHA:550)
Association type: UNKNOWN
Gene: MT-TC
Disease: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES (OMIM:540000)
Association type: MENDELIAN
Gene: MT-TQ
Disease: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES (OMIM:540000)
Association type: MENDELIAN
Gene: MT-TQ
Disease: MERRF; Fukuhara syndrome; Myoclonus epilepsy associated with ragged-red fibres (ORPHA:551)
Association type: UNKNOWN
Gene: MT-TQ
Disease: MELAS; Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes; Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes; Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (ORPHA:550)
Association type: UNKNOWN
Gene: MT-TV
Disease: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES (OMIM:540000)
Association type: MENDELIAN
Gene: MT-TV
Disease: Mitochondrial DNA-associated Leigh syndrome; MILS; Maternally-inherited Leigh disease; Maternally-inherited infantile subacute necrotizing encephalopathy; mtDNA-associated Leigh syndrome (ORPHA:255210)
Association type: UNKNOWN
Gene: MT-TW
Disease: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES (OMIM:540000)
Association type: MENDELIAN
Gene: MT-TW
Disease: MELAS; Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes; Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes; Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (ORPHA:550)
Association type: UNKNOWN
Gene: MT-TW
Disease: Mitochondrial DNA-associated Leigh syndrome; MILS; Maternally-inherited Leigh disease; Maternally-inherited infantile subacute necrotizing encephalopathy; mtDNA-associated Leigh syndrome (ORPHA:255210)
Association type: UNKNOWN
Gene: MT-TF
Disease: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES (OMIM:540000)
Association type: MENDELIAN
Gene: MT-TF
Disease: MYOCLONIC EPILEPSY ASSOCIATED WITH RAGGED-RED FIBERS (OMIM:545000)
Association type: MENDELIAN
Gene: MT-TF
Disease: Gitelman-like kidney tubulopathy due to mitochondrial DNA mutation; Gitelman-like kidney tubulopathy due to mtDNA mutation (ORPHA:620371)
Association type: UNKNOWN
Gene: MT-TF
Disease: MERRF; Fukuhara syndrome; Myoclonus epilepsy associated with ragged-red fibres (ORPHA:551)
Association type: UNKNOWN
Gene: MT-TF
Disease: MELAS; Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes; Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes; Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (ORPHA:550)
Association type: UNKNOWN
Gene: MT-TK
Disease: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES (OMIM:540000)
Association type: MENDELIAN
Gene: MT-TK
Disease: MYOCLONIC EPILEPSY ASSOCIATED WITH RAGGED-RED FIBERS (OMIM:545000)
Association type: MENDELIAN
Gene: MT-TK
Disease: Mitochondrial DNA-related cardiomyopathy and hearing loss; Maternally-inherited cardiomyopathy and deafness; mtDNA-related cardiomyopathy and deafness; mtDNA-related cardiomyopathy and hearing loss; tRNA-LYS-related cardiomyopathy-hearing loss syndrome (ORPHA:1349)
Association type: UNKNOWN
Gene: MT-TK
Disease: MERRF; Fukuhara syndrome; Myoclonus epilepsy associated with ragged-red fibres (ORPHA:551)
Association type: UNKNOWN
Gene: MT-TK
Disease: Mitochondrial DNA-associated Leigh syndrome; MILS; Maternally-inherited Leigh disease; Maternally-inherited infantile subacute necrotizing encephalopathy; mtDNA-associated Leigh syndrome (ORPHA:255210)
Association type: UNKNOWN
Gene: MT-TH
Disease: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES (OMIM:540000)
Association type: MENDELIAN
Gene: MT-TH
Disease: MYOCLONIC EPILEPSY ASSOCIATED WITH RAGGED-RED FIBERS (OMIM:545000)
Association type: MENDELIAN
Gene: MT-TH
Disease: Rare mitochondrial non-syndromic sensorineural deafness; Isolated mitochondrial neurosensory deafness; Isolated mitochondrial neurosensory hearing loss; Isolated mitochondrial sensorineural deafness; Isolated mitochondrial sensorineural hearing loss; Mitochondrial non-syndromic neurosensory deafness; Mitochondrial non-syndromic neurosensory hearing loss; Mitochondrial non-syndromic sensorineural hearing loss (ORPHA:90641)
Association type: UNKNOWN
Gene: MT-TH
Disease: MERRF; Fukuhara syndrome; Myoclonus epilepsy associated with ragged-red fibres (ORPHA:551)
Association type: UNKNOWN
Gene: MT-TH
Disease: MELAS; Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes; Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes; Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (ORPHA:550)
Association type: UNKNOWN
Gene: FRG1
Disease: FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1 (OMIM:158900)
Association type: MENDELIAN
Gene: FRG1
Disease: Facioscapulohumeral dystrophy; FSH dystrophy; FSHD; Facioscapulohumeral muscular dystrophy; Facioscapulohumeral myopathy; Landouzy-Dejerine dystrophy; Landouzy-Dejerine myopathy (ORPHA:269)
Association type: UNKNOWN
Gene: APRT
Disease: ADENINE PHOSPHORIBOSYLTRANSFERASE DEFICIENCY (OMIM:614723)
Association type: MENDELIAN
Gene: APRT
Disease: Adenine phosphoribosyltransferase deficiency; 2,8-dihydroxyadenine urolithiasis; APRT deficiency (ORPHA:976)
Association type: UNKNOWN
Gene: TMEM165
Disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIk (OMIM:614727)
Association type: MENDELIAN
Gene: TMEM165
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: TMEM165
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: TMEM165
Disease: TMEM165-CDG; CDG syndrome type IIk; CDG-IIk; CDG2K; Carbohydrate deficient glycoprotein syndrome type IIk; Congenital disorder of glycosylation type 2k; Congenital disorder of glycosylation type IIk (ORPHA:314667)
Association type: UNKNOWN
Gene: CEP63
Disease: SECKEL SYNDROME 6 (OMIM:614728)
Association type: MENDELIAN
Gene: CEP63
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: CEP63
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: CEP63
Disease: Autosomal recessive primary microcephaly; MCPH; Microcephalia vera; Microcephaly vera; True microcephaly (ORPHA:2512)
Association type: UNKNOWN
Gene: MCCC2
Disease: 3-METHYLCROTONYL-CoA CARBOXYLASE 2 DEFICIENCY (OMIM:210210)
Association type: MENDELIAN
Gene: MCCC2
Disease: 3-methylcrotonyl-CoA carboxylase deficiency; 3-methylcrotonylglycinuria; MCC deficiency; MCCD (ORPHA:6)
Association type: UNKNOWN
Gene: MCCC1
Disease: 3-METHYLCROTONYL-CoA CARBOXYLASE 1 DEFICIENCY (OMIM:210200)
Association type: MENDELIAN
Gene: MCCC1
Disease: 3-methylcrotonyl-CoA carboxylase deficiency; 3-methylcrotonylglycinuria; MCC deficiency; MCCD (ORPHA:6)
Association type: UNKNOWN
Gene: VIPAS39
Disease: ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 2 (OMIM:613404)
Association type: MENDELIAN
Gene: VIPAS39
Disease: Arthrogryposis-renal dysfunction-cholestasis syndrome; ARC syndrome (ORPHA:2697)
Association type: UNKNOWN
Gene: SIN3A
Disease: WITTEVEEN-KOLK SYNDROME (OMIM:613406)
Association type: MENDELIAN
Gene: SIN3A
Disease: SIN3-related intellectual disability syndrome due to a point mutation (ORPHA:500166)
Association type: UNKNOWN
Gene: SIN3A
Disease: 15q24 microdeletion syndrome; Del(15)(q24); Monosomy 15q24 (ORPHA:94065)
Association type: UNKNOWN
Gene: KEL
Disease: BLOOD GROUP--KELL SYSTEM (OMIM:110900)
Association type: MENDELIAN
Gene: SERAC1
Disease: 3-METHYLGLUTACONIC ACIDURIA WITH DEAFNESS, ENCEPHALOPATHY, AND LEIGH-LIKE SYNDROME (OMIM:614739)
Association type: MENDELIAN
Gene: SERAC1
Disease: MEGDEL syndrome; 3-methylglutaconic aciduria with deafness-encephalopathy-Leigh-like syndrome; 3-methylglutaconic aciduria with hearing loss-encephalopathy-Leigh-like syndrome (ORPHA:352328)
Association type: UNKNOWN
Gene: NNT
Disease: GLUCOCORTICOID DEFICIENCY 4 WITH OR WITHOUT MINERALOCORTICOID DEFICIENCY (OMIM:614736)
Association type: MENDELIAN
Gene: NNT
Disease: Familial glucocorticoid deficiency (ORPHA:361)
Association type: UNKNOWN
Gene: SLC52A3
Disease: BROWN-VIALETTO-VAN LAERE SYNDROME 1 (OMIM:211530)
Association type: MENDELIAN
Gene: SLC52A3
Disease: FAZIO-LONDE DISEASE (OMIM:211500)
Association type: MENDELIAN
Gene: SLC52A3
Disease: RFVT3-related riboflavin transporter deficiency; RTD3; Riboflavin transporter deficiency 3 (ORPHA:572550)
Association type: UNKNOWN
Gene: PRCC
Disease: RENAL CELL CARCINOMA, PAPILLARY, 1 (OMIM:605074)
Association type: MENDELIAN
Gene: PRCC
Disease: MiT family translocation renal cell carcinoma; Carcinoma associated with MITF/TFE translocation; Translocation renal cell carcinoma (ORPHA:319308)
Association type: UNKNOWN
Gene: SEPTIN9
Disease: AMYOTROPHY, HEREDITARY NEURALGIC (OMIM:162100)
Association type: MENDELIAN
Gene: SEPTIN9
Disease: Neuralgic amyotrophy; Acute brachial plexus neuritis; Brachial plexus neuritis; Immune brachial plexus neuropathy; Mononeuritis multiplex with brachial predilection; Neuralgic shoulder amyotrophy (ORPHA:2901)
Association type: UNKNOWN
Gene: SH3KBP1
Disease: IMMUNODEFICIENCY 61 (OMIM:300310)
Association type: MENDELIAN
Gene: SH3KBP1
Disease:  (ORPHA:696945)
Association type: UNKNOWN
Gene: MPC1
Disease: MITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY (OMIM:614741)
Association type: MENDELIAN
Gene: MPC1
Disease: Mitochondrial pyruvate carrier deficiency (ORPHA:447784)
Association type: UNKNOWN
Gene: GRK1
Disease: OGUCHI DISEASE 2 (OMIM:613411)
Association type: MENDELIAN
Gene: GRK1
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: GRK1
Disease: Congenital stationary night blindness; Congenital essential nyctalopia (ORPHA:215)
Association type: UNKNOWN
Gene: GRK1
Disease: Oguchi disease; Congenital stationary night blindness, Oguchi type; Oguchi syndrome (ORPHA:75382)
Association type: UNKNOWN
Gene: SLC9A9
Disease: AUTISM, SUSCEPTIBILITY TO, 16 (OMIM:613410)
Association type: POLYGENIC
Gene: SEMA7A
Disease: BLOOD GROUP, JOHN MILTON HAGEN SYSTEM (OMIM:614745)
Association type: MENDELIAN
Gene: SEMA7A
Disease: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 11 (OMIM:619874)
Association type: MENDELIAN
Gene: HOXB1
Disease: FACIAL PARESIS, HEREDITARY CONGENITAL, 3 (OMIM:614744)
Association type: MENDELIAN
Gene: HOXB1
Disease: Congenital hereditary facial paralysis-variable hearing loss syndrome; Congenital hereditary facial palsy with variable deafness; Congenital hereditary facial palsy with variable hearing loss; Congenital hereditary facial paralysis with variable deafness; Congenital hereditary facial paralysis-variable deafness syndrome (ORPHA:306530)
Association type: UNKNOWN
Gene: PIGO
Disease: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2 (OMIM:614749)
Association type: MENDELIAN
Gene: PIGO
Disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Association type: UNKNOWN
Gene: ITGA3
Disease: INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL (OMIM:614748)
Association type: MENDELIAN
Gene: ITGA3
Disease: Interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome; ILNEB syndrome; JEB with interstitial lung disease and nephrotic syndrome; Junctional epidermolysis bullosa with interstitial lung disease and nephrotic syndrome (ORPHA:306504)
Association type: UNKNOWN
Gene: MIR2861
Disease: BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 15 (OMIM:613418)
Association type: MENDELIAN
Gene: POLR3A
Disease: WIEDEMANN-RAUTENSTRAUCH SYNDROME (OMIM:264090)
Association type: MENDELIAN