TaoMedAI/RareMedData huggingface dataset:
Gene: RBP4
Disease: Progressive retinal dystrophy due to retinol transport defect; Retinol dystrophy-iris coloboma-comedogenic acne syndrome (ORPHA:352718)
Association type: UNKNOWN
Gene: RBM10
Disease: TARP SYNDROME (OMIM:311900)
Association type: MENDELIAN
Gene: RBM10
Disease: TARP syndrome; Pierre Robin sequence-congenital heart defect-talipes syndrome; Pierre Robin syndrome-congenital heart defect-talipes syndrome; Talipes equinovarus-atrial septal defect-Robin sequence-persistence of the left superior vena cava syndrome (ORPHA:2886)
Association type: UNKNOWN
Gene: PSTPIP1
Disease: PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE (OMIM:604416)
Association type: MENDELIAN
Gene: PSTPIP1
Disease: HYPERZINCEMIA WITH FUNCTIONAL ZINC DEPLETION (OMIM:601979)
Association type: MENDELIAN
Gene: PSTPIP1
Disease: Hyperzincemia and hypercalprotectinemia; Hz/Hc; PAMI syndrome; PSTPIP1-associated myeloid-related proteinemia inflammatory syndrome (ORPHA:251523)
Association type: UNKNOWN
Gene: PSTPIP1
Disease: PAPA syndrome; FRA; Familial recurrent arthritis; Pyogenic arthritis-pyoderma gangrenosum-acne syndrome (ORPHA:69126)
Association type: UNKNOWN
Gene: NBAS
Disease: INFANTILE LIVER FAILURE SYNDROME 2 (OMIM:616483)
Association type: MENDELIAN
Gene: NBAS
Disease: SHORT STATURE, OPTIC NERVE ATROPHY, AND PELGER-HUET ANOMALY (OMIM:614800)
Association type: MENDELIAN
Gene: NBAS
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: NBAS
Disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Association type: MENDELIAN
Gene: NBAS
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: NBAS
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: NBAS
Disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Association type: MENDELIAN
Gene: NBAS
Disease: Fever-associated acute infantile liver failure syndrome (ORPHA:464724)
Association type: UNKNOWN
Gene: NBAS
Disease: Short stature-optic atrophy-Pelger-Huët anomaly syndrome; SOPH syndrome (ORPHA:391677)
Association type: UNKNOWN
Gene: RSPH3
Disease: CILIARY DYSKINESIA, PRIMARY, 32 (OMIM:616481)
Association type: MENDELIAN
Gene: RSPH3
Disease: Primary ciliary dyskinesia; PCD (ORPHA:244)
Association type: UNKNOWN
Gene: COL27A1
Disease: STEEL SYNDROME (OMIM:615155)
Association type: MENDELIAN
Gene: COL27A1
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: COL27A1
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: COL27A1
Disease: Steel syndrome; Bilateral hip and radial head dislocations-short stature-scoliosis-carpal coalitions-pes cavus-facial dysmorphism syndrome (ORPHA:438117)
Association type: UNKNOWN
Gene: MFSD2A
Disease: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN IMAGING ABNORMALITIES (OMIM:616486)
Association type: MENDELIAN
Gene: MFSD2A
Disease: Autosomal recessive primary microcephaly; MCPH; Microcephalia vera; Microcephaly vera; True microcephaly (ORPHA:2512)
Association type: UNKNOWN
Gene: DNA2
Disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 6 (OMIM:615156)
Association type: MENDELIAN
Gene: DNA2
Disease: SECKEL SYNDROME 8 (OMIM:615807)
Association type: MENDELIAN
Gene: DNA2
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: DNA2
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: DNA2
Disease: ROTHMUND-THOMSON SYNDROME, TYPE 4 (OMIM:620819)
Association type: MENDELIAN
Gene: DNA2
Disease: DNA2-related mitochondrial DNA deletion syndrome; Mitochondrial DNA deletion syndrome with limb-girdle weakness; Mitochondrial DNA deletion syndrome with progressive myopathy; mtDNA deletion syndrome with limb-girdle weakness; mtDNA deletion syndrome with progressive myopathy (ORPHA:352470)
Association type: UNKNOWN
Gene: DNA2
Disease: Seckel syndrome (ORPHA:808)
Association type: UNKNOWN
Gene: UQCRQ
Disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 4 (OMIM:615159)
Association type: MENDELIAN
Gene: UQCRQ
Disease: Isolated complex III deficiency; Isolated CoQ-cytochrome C reductase deficiency; Isolated coenzyme Q-cytochrome C reductase deficiency; Isolated mitochondrial respiratory chain complex III deficiency; Isolated ubiquinone-cytochrome C reductase deficiency (ORPHA:1460)
Association type: UNKNOWN
Gene: CDH3
Disease: ECTODERMAL DYSPLASIA, ECTRODACTYLY, AND MACULAR DYSTROPHY SYNDROME (OMIM:225280)
Association type: MENDELIAN
Gene: CDH3
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: CDH3
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: CDH3
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: CDH3
Disease: HYPOTRICHOSIS, CONGENITAL, WITH JUVENILE MACULAR DYSTROPHY (OMIM:601553)
Association type: MENDELIAN
Gene: CDH3
Disease: Hypotrichosis with juvenile macular degeneration; HJMD; Hypotrichosis with juvenile macular dystrophy (ORPHA:1573)
Association type: UNKNOWN
Gene: CDH3
Disease: EEM syndrome; Ectodermal dysplasia-ectrodactyly-macular dystrophy syndrome (ORPHA:1897)
Association type: UNKNOWN
Gene: IGF2
Disease: SILVER-RUSSELL SYNDROME 3 (OMIM:616489)
Association type: MENDELIAN
Gene: IGF2
Disease: SILVER-RUSSELL SYNDROME 1 (OMIM:180860)
Association type: MENDELIAN
Gene: IGF2
Disease: BECKWITH-WIEDEMANN SYNDROME (OMIM:130650)
Association type: MENDELIAN
Gene: IGF2
Disease: WILMS TUMOR 1 (OMIM:194070)
Association type: MENDELIAN
Gene: IGF2
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: IGF2
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: IGF2
Disease: Silver-Russell syndrome due to an imprinting defect of 11p15 (ORPHA:231140)
Association type: UNKNOWN
Gene: IGF2
Disease: Silver-Russell syndrome due to 11p15 microduplication (ORPHA:231144)
Association type: UNKNOWN
Gene: IGF2
Disease: Beckwith-Wiedemann syndrome due to imprinting defect of 11p15 (ORPHA:231117)
Association type: UNKNOWN
Gene: IGF2
Disease: Silver-Russell syndrome due to a point mutation (ORPHA:397590)
Association type: UNKNOWN
Gene: IGF2
Disease: Isolated hemihyperplasia; Hemi 3 syndrome; Hemicorporal hypertrophy; Isolated hemihypertrophy (ORPHA:2128)
Association type: UNKNOWN
Gene: TTC19
Disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 2 (OMIM:615157)
Association type: MENDELIAN
Gene: TTC19
Disease: Isolated complex III deficiency; Isolated CoQ-cytochrome C reductase deficiency; Isolated coenzyme Q-cytochrome C reductase deficiency; Isolated mitochondrial respiratory chain complex III deficiency; Isolated ubiquinone-cytochrome C reductase deficiency (ORPHA:1460)
Association type: UNKNOWN
Gene: RMRP
Disease: CARTILAGE-HAIR HYPOPLASIA (OMIM:250250)
Association type: MENDELIAN
Gene: RMRP
Disease: METAPHYSEAL DYSPLASIA WITHOUT HYPOTRICHOSIS (OMIM:250460)
Association type: MENDELIAN
Gene: RMRP
Disease: ANAUXETIC DYSPLASIA 1 (OMIM:607095)
Association type: MENDELIAN
Gene: RMRP
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: RMRP
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: RMRP
Disease: Cartilage-hair hypoplasia; Autosomal recessive metaphyseal chondrodysplasia; Metaphyseal chondrodysplasia, McKusick type (ORPHA:175)
Association type: UNKNOWN
Gene: RMRP
Disease: Omenn syndrome; Combined immunodeficiency with hypereosinophilia (ORPHA:39041)
Association type: UNKNOWN
Gene: RMRP
Disease: Anauxetic dysplasia; Spondyloepimetaphyseal dysplasia, Menger type; Spondyloepimetaphyseal dysplasia, anauxetic type (ORPHA:93347)
Association type: UNKNOWN
Gene: PRDM12
Disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VIII (OMIM:616488)
Association type: MENDELIAN
Gene: PRDM12
Disease: Hereditary sensory and autonomic neuropathy type 8; HSAN8; Hereditary sensory and autonomic neuropathy type VIII (ORPHA:478664)
Association type: UNKNOWN
Gene: UQCRB
Disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 3 (OMIM:615158)
Association type: MENDELIAN
Gene: UQCRB
Disease: Isolated complex III deficiency; Isolated CoQ-cytochrome C reductase deficiency; Isolated coenzyme Q-cytochrome C reductase deficiency; Isolated mitochondrial respiratory chain complex III deficiency; Isolated ubiquinone-cytochrome C reductase deficiency (ORPHA:1460)
Association type: UNKNOWN
Gene: SCN1A
Disease: GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2 (OMIM:604403)
Association type: MENDELIAN
Gene: SCN1A
Disease: DRAVET SYNDROME (OMIM:607208)
Association type: MENDELIAN
Gene: SCN1A
Disease: MIGRAINE, FAMILIAL HEMIPLEGIC, 3 (OMIM:609634)
Association type: MENDELIAN
Gene: SCN1A
Disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 6B (OMIM:619317)
Association type: MENDELIAN
Gene: SCN1A
Disease: Genetic epilepsy with febrile seizure plus; GEFS+; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Association type: UNKNOWN
Gene: SCN1A
Disease: Lennox-Gastaut syndrome (ORPHA:2382)
Association type: UNKNOWN
Gene: SCN1A
Disease: Non-specific early-onset epileptic encephalopathy; Non-specific EOEE; Undetermined EOEE; Undetermined early-onset epileptic encephalopathy (ORPHA:442835)
Association type: UNKNOWN
Gene: SCN1A
Disease: Myoclonic-astatic epilepsy; Doose syndrome; EMAS; Epilepsy with myoclonic-astatic seizures; Epilepsy with myoclonic-atonic seizures; MAE; Myoclonic atonic epilepsy; Myoclonic-astatic epilepsy in early childhood (ORPHA:1942)
Association type: UNKNOWN
Gene: SCN1A
Disease: Epilepsy of infancy with migrating focal seizures; EIMFS; Epilepsy with migrating focal seizure in infancy; MMPEI; MMPSI; MPEI; MPSI; Malignant migrating partial epilepsy of infancy; Malignant migrating partial seizures of infancy; Migrating partial epilepsy of infancy; Migrating partial seizures of infancy (ORPHA:293181)
Association type: UNKNOWN
Gene: SCN1A
Disease: Familial or sporadic hemiplegic migraine (ORPHA:569)
Association type: UNKNOWN
Gene: SCN1A
Disease: Dravet syndrome; SMEI; Severe myoclonic epilepsy of infancy; Severe myoclonus epilepsy of infancy (ORPHA:33069)
Association type: UNKNOWN
Gene: TMEM43
Disease: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 5 (OMIM:604400)
Association type: MENDELIAN
Gene: TMEM43
Disease: EMERY-DREIFUSS MUSCULAR DYSTROPHY 7, AUTOSOMAL DOMINANT (OMIM:614302)
Association type: MENDELIAN
Gene: TMEM43
Disease: AUDITORY NEUROPATHY, AUTOSOMAL DOMINANT 3 (OMIM:619832)
Association type: MENDELIAN
Gene: TMEM43
Disease: Autosomal dominant Emery-Dreifuss muscular dystrophy; EDMD2 (ORPHA:98853)
Association type: UNKNOWN
Gene: TMEM43
Disease: Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variant; ALVC; Arrhythmogenic cardiomyopathy dominant-left variant; Arrhythmogenic cardiomyopathy with left ventricular involvement; Familial isolated arrhythmogenic ventricular dysplasia, left-dominant form (ORPHA:293888)
Association type: UNKNOWN
Gene: TMEM43
Disease: Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variant; Familial isolated arrhythmogenic ventricular dysplasia, biventricular form (ORPHA:293899)
Association type: UNKNOWN
Gene: TMEM43
Disease: Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant; Familial isolated arrhytmogenic ventricular dysplasia, right dominant form (ORPHA:293910)
Association type: UNKNOWN
Gene: POLR1C
Disease: LEUKODYSTROPHY, HYPOMYELINATING, 11 (OMIM:616494)
Association type: MENDELIAN
Gene: POLR1C
Disease: TREACHER COLLINS SYNDROME 3 (OMIM:248390)
Association type: MENDELIAN
Gene: POLR1C
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: POLR1C
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: POLR1C
Disease: Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome; 4H syndrome (ORPHA:88637)
Association type: UNKNOWN
Gene: POLR1C
Disease: Treacher-Collins syndrome; Franceschetti-Klein syndrome; Mandibulofacial dysostosis without limb anomalies (ORPHA:861)
Association type: UNKNOWN
Gene: UQCRC2
Disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5 (OMIM:615160)
Association type: MENDELIAN
Gene: UQCRC2
Disease: Isolated complex III deficiency; Isolated CoQ-cytochrome C reductase deficiency; Isolated coenzyme Q-cytochrome C reductase deficiency; Isolated mitochondrial respiratory chain complex III deficiency; Isolated ubiquinone-cytochrome C reductase deficiency (ORPHA:1460)
Association type: UNKNOWN
Gene: INS
Disease: TYPE 1 DIABETES MELLITUS 2 (OMIM:125852)
Association type: MENDELIAN
Gene: INS
Disease: HYPERPROINSULINEMIA (OMIM:616214)
Association type: MENDELIAN
Gene: INS
Disease: DIABETES MELLITUS, PERMANENT NEONATAL, 4 (OMIM:618858)
Association type: MENDELIAN
Gene: INS
Disease: MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10 (OMIM:613370)
Association type: MENDELIAN
Gene: INS
Disease: Isolated permanent neonatal diabetes mellitus; Isolated PNDM; Monogenic diabetes of infancy (ORPHA:99885)
Association type: UNKNOWN
Gene: INS
Disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Association type: UNKNOWN
Gene: TCF7L2
Disease: TYPE 2 DIABETES MELLITUS (OMIM:125853)
Association type: POLYGENIC
Gene: TCF7L2
Disease: Non-specific syndromic intellectual disability; Complex neurodevelopmental disorder (ORPHA:528084)
Association type: UNKNOWN
Gene: PAX4
Disease: TYPE 2 DIABETES MELLITUS (OMIM:125853)
Association type: MENDELIAN
Gene: PAX4
Disease: MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 9 (OMIM:612225)
Association type: MENDELIAN
Gene: PAX4
Disease: DIABETES MELLITUS, KETOSIS-PRONE (OMIM:612227)
Association type: POLYGENIC
Gene: PAX4
Disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Association type: UNKNOWN
Gene: HNF4A
Disease: TYPE 2 DIABETES MELLITUS (OMIM:125853)
Association type: POLYGENIC
Gene: HNF4A
Disease: MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1 (OMIM:125850)
Association type: MENDELIAN
Gene: HNF4A
Disease: FANCONI RENOTUBULAR SYNDROME 4 WITH MATURITY-ONSET DIABETES OF THE YOUNG (OMIM:616026)
Association type: MENDELIAN
Gene: HNF4A
Disease: Congenital hyperinsulinism due to HNF4A deficiency; Hyperinsulinemic hypoglycemia due to HNF4A deficiency (ORPHA:263455)
Association type: UNKNOWN
Gene: HNF4A
Disease: Atypical Fanconi syndrome-neonatal hyperinsulinism syndrome (ORPHA:544628)
Association type: UNKNOWN
Gene: HNF4A
Disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Association type: UNKNOWN
Gene: IL6
Disease: TYPE 2 DIABETES MELLITUS (OMIM:125853)
Association type: POLYGENIC
Gene: IL6
Disease: RHEUMATOID ARTHRITIS, SYSTEMIC JUVENILE (OMIM:604302)
Association type: POLYGENIC
Gene: IL6
Disease: ARTERIOVENOUS MALFORMATIONS OF THE BRAIN (OMIM:108010)
Association type: POLYGENIC
Gene: IL6
Disease: INFLAMMATORY BOWEL DISEASE (CROHN DISEASE) 1 (OMIM:266600)
Association type: POLYGENIC
Gene: IL6
Disease: TYPE 1 DIABETES MELLITUS (OMIM:222100)
Association type: POLYGENIC
Gene: IL6
Disease: KAPOSI SARCOMA, SUSCEPTIBILITY TO (OMIM:148000)
Association type: POLYGENIC
Gene: IL6
Disease: Systemic-onset juvenile idiopathic arthritis; Still disease; Systemic-onset JIA (ORPHA:85414)
Association type: UNKNOWN
Gene: LIPC
Disease: TYPE 2 DIABETES MELLITUS (OMIM:125853)
Association type: POLYGENIC
Gene: LIPC
Disease: HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 12 (OMIM:612797)
Association type: MENDELIAN
Gene: LIPC
Disease: HEPATIC LIPASE DEFICIENCY (OMIM:614025)
Association type: MENDELIAN
Gene: LIPC
Disease: Hyperlipidemia due to hepatic triacylglycerol lipase deficiency; Hyperlipidemia due to HL deficiency; Hyperlipidemia due to HTGL deficiency; Hyperlipidemia due to hepatic lipase deficiency; Hyperlipidemia due to hepatic triglyceride lipase deficiency (ORPHA:140905)
Association type: UNKNOWN
Gene: HNF1A
Disease: TYPE 2 DIABETES MELLITUS (OMIM:125853)
Association type: POLYGENIC
Gene: HNF1A
Disease: HEPATIC ADENOMAS, FAMILIAL (OMIM:142330)
Association type: MENDELIAN
Gene: HNF1A
Disease: TYPE 1 DIABETES MELLITUS (OMIM:222100)
Association type: POLYGENIC
Gene: HNF1A
Disease: TYPE 1 DIABETES MELLITUS 20 (OMIM:612520)
Association type: MENDELIAN
Gene: HNF1A
Disease: RENAL CELL CARCINOMA, NONPAPILLARY (OMIM:144700)
Association type: MENDELIAN
Gene: HNF1A
Disease: MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3 (OMIM:600496)
Association type: MENDELIAN
Gene: HNF1A
Disease: Hyperinsulinism due to HNF1A deficiency; Hyperinsulinemic hypoglycemia due to HNF1A deficiency (ORPHA:324575)
Association type: UNKNOWN
Gene: HNF1A
Disease: Chromophobe renal cell carcinoma; Chromophobe renal cell adenocarcinoma (ORPHA:319303)
Association type: UNKNOWN
Gene: HNF1A
Disease: Clear cell papillary renal cell carcinoma (ORPHA:404511)
Association type: UNKNOWN
Gene: HNF1A
Disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Association type: UNKNOWN
Gene: NEUROD1
Disease: TYPE 2 DIABETES MELLITUS (OMIM:125853)
Association type: POLYGENIC
Gene: NEUROD1
Disease: MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 6 (OMIM:606394)
Association type: MENDELIAN
Gene: NEUROD1
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: NEUROD1
Disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Association type: UNKNOWN
Gene: PPP1R3A
Disease: TYPE 2 DIABETES MELLITUS (OMIM:125853)
Association type: MENDELIAN
Gene: SLC30A8
Disease: TYPE 2 DIABETES MELLITUS (OMIM:125853)
Association type: POLYGENIC
Gene: GPD2
Disease: TYPE 2 DIABETES MELLITUS (OMIM:125853)
Association type: POLYGENIC
Gene: KCNJ11
Disease: TYPE 2 DIABETES MELLITUS (OMIM:125853)
Association type: POLYGENIC
Gene: KCNJ11
Disease: MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 13 (OMIM:616329)
Association type: MENDELIAN
Gene: KCNJ11
Disease: DIABETES MELLITUS, PERMANENT NEONATAL, 2 (OMIM:618856)
Association type: MENDELIAN
Gene: KCNJ11
Disease: DIABETES MELLITUS, TRANSIENT NEONATAL, 3 (OMIM:610582)
Association type: MENDELIAN
Gene: KCNJ11
Disease: HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 2 (OMIM:601820)
Association type: MENDELIAN
Gene: KCNJ11
Disease: Isolated permanent neonatal diabetes mellitus; Isolated PNDM; Monogenic diabetes of infancy (ORPHA:99885)
Association type: UNKNOWN
Gene: KCNJ11
Disease: Transient neonatal diabetes mellitus; TNDM (ORPHA:99886)
Association type: UNKNOWN
Gene: KCNJ11
Disease: Intermediate DEND syndrome; Developmental delay-epilepsy-neonatal diabetes syndrome, intermediate form (ORPHA:99989)
Association type: UNKNOWN
Gene: KCNJ11
Disease: Autosomal recessive hyperinsulinism due to Kir6.2 deficiency; Autosomal recessive hyperinsulinemic hypoglycemia due to Kir6.2 deficiency (ORPHA:79644)
Association type: UNKNOWN
Gene: KCNJ11
Disease: Autosomal dominant hyperinsulinism due to Kir6.2 deficiency; Autosomal dominant hyperinsulinemic hypoglycemia due to Kir6.2 deficiency; Dominant KATP hyperinsulinism due to Kir6.2 deficiency (ORPHA:276580)
Association type: UNKNOWN
Gene: KCNJ11
Disease: Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency; Hyperinsulinemic hypoglycemia due to Kir6.2 deficiency, diazoxide-resistant focal form (ORPHA:276603)
Association type: UNKNOWN
Gene: KCNJ11
Disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Association type: UNKNOWN
Gene: KCNJ11
Disease: DEND syndrome; Developmental delay-epilepsy-neonatal diabetes syndrome (ORPHA:79134)
Association type: UNKNOWN
Gene: SLC2A2
Disease: TYPE 2 DIABETES MELLITUS (OMIM:125853)
Association type: POLYGENIC
Gene: SLC2A2
Disease: FANCONI-BICKEL SYNDROME (OMIM:227810)
Association type: MENDELIAN
Gene: SLC2A2
Disease: Fanconi-Bickel syndrome; GSD due to GLUT2 deficiency; Glycogen storage disease due to GLUT2 deficiency; Glycogenosis due to GLUT2 deficiency (ORPHA:2088)
Association type: UNKNOWN
Gene: PPARG
Disease: TYPE 2 DIABETES MELLITUS (OMIM:125853)
Association type: MENDELIAN
Gene: PPARG
Disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3 (OMIM:604367)
Association type: MENDELIAN
Gene: PPARG
Disease: OBESITY (OMIM:601665)
Association type: MENDELIAN
Gene: PPARG
Disease: Giant cell glioblastoma (ORPHA:251579)
Association type: UNKNOWN
Gene: PPARG
Disease: Gliosarcoma (ORPHA:251576)
Association type: UNKNOWN
Gene: PPARG
Disease: Differentiated thyroid carcinoma; Papillary or follicular thyroid carcinoma; Well-differentiated thyroid carcinoma (ORPHA:146)
Association type: UNKNOWN
Gene: PPARG
Disease: PPARG-related familial partial lipodystrophy; FPLD3; Familial partial lipodystrophy type 3; PPARG-related FPLD (ORPHA:79083)
Association type: UNKNOWN
Gene: PPARG
Disease: Congenital generalized lipodystrophy; BSCL; Berardinelli-Seip congenital lipodystrophy; Berardinelli-Seip syndrome; CGL; Lipoatrophic diabetes (ORPHA:528)
Association type: UNKNOWN
Gene: PPARG
Disease:  (ORPHA:696242)
Association type: UNKNOWN
Gene: ENPP1
Disease: TYPE 2 DIABETES MELLITUS (OMIM:125853)
Association type: POLYGENIC
Gene: ENPP1
Disease: COLE DISEASE (OMIM:615522)
Association type: MENDELIAN
Gene: ENPP1
Disease: HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL RECESSIVE, 2 (OMIM:613312)
Association type: MENDELIAN
Gene: ENPP1
Disease: ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1 (OMIM:208000)
Association type: MENDELIAN
Gene: ENPP1
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: ENPP1
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: ENPP1
Disease: OBESITY (OMIM:601665)
Association type: POLYGENIC
Gene: ENPP1
Disease: Hypopigmentation-punctate palmoplantar keratoderma syndrome; Cole disease; Guttate hypopigmentation and punctate palmoplantar keratoderma; Hypopigmentation and punctate keratosis of the palms and soles (ORPHA:324561)
Association type: UNKNOWN
Gene: ENPP1
Disease: Pseudoxanthoma elasticum; Gronblad-Strandberg-Touraine syndrome; PXE (ORPHA:758)
Association type: UNKNOWN
Gene: ENPP1
Disease: Autosomal recessive hypophosphatemic rickets; ARHR (ORPHA:289176)
Association type: UNKNOWN
Gene: ENPP1
Disease: Generalized arterial calcification of infancy; Idiopathic infantile arterial calcification; Idiopathic obliterative arteriopathy; Infantile arteriosclerosis; Occlusive infantile arteriopathy (ORPHA:51608)
Association type: UNKNOWN
Gene: PTPN1
Disease: TYPE 2 DIABETES MELLITUS (OMIM:125853)
Association type: POLYGENIC
Gene: IRS2
Disease: TYPE 2 DIABETES MELLITUS (OMIM:125853)
Association type: POLYGENIC
Gene: HMGA1
Disease: TYPE 2 DIABETES MELLITUS (OMIM:125853)
Association type: POLYGENIC
Gene: IRS1
Disease: TYPE 2 DIABETES MELLITUS (OMIM:125853)
Association type: POLYGENIC
Gene: MAPK8IP1
Disease: TYPE 2 DIABETES MELLITUS (OMIM:125853)
Association type: POLYGENIC
Gene: MTNR1B
Disease: TYPE 2 DIABETES MELLITUS (OMIM:125853)
Association type: POLYGENIC
Gene: RETN
Disease: TYPE 2 DIABETES MELLITUS (OMIM:125853)
Association type: POLYGENIC
Gene: WFS1
Disease: TYPE 2 DIABETES MELLITUS (OMIM:125853)
Association type: POLYGENIC
Gene: WFS1
Disease: DEAFNESS, AUTOSOMAL DOMINANT 6 (OMIM:600965)
Association type: MENDELIAN
Gene: WFS1
Disease: CATARACT 41 (OMIM:116400)
Association type: MENDELIAN
Gene: WFS1
Disease: WOLFRAM-LIKE SYNDROME, AUTOSOMAL DOMINANT (OMIM:614296)
Association type: MENDELIAN
Gene: WFS1
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: WFS1
Disease: WOLFRAM SYNDROME 1 (OMIM:222300)
Association type: MENDELIAN
Gene: WFS1
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: WFS1
Disease: Early-onset nuclear cataract (ORPHA:98991)
Association type: UNKNOWN
Gene: WFS1
Disease: Wolfram-like syndrome (ORPHA:411590)
Association type: UNKNOWN