All diseases

42 entries on 1 page. Showing entries 1 - 42.
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ID     

AscendingAbbreviation     

Name     

OMIM ID     

Inheritance     

Individuals     

Phenotypes     

Associated with genes

Associated tissues

Disease features
01801 - anemia, hemolytic, due to gamma-glutamylcysteine synthetase deficiency 230450 AR - - GCLC - -
02988 - Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency 610842 - - - GGCX - -
02594 CMD1L cardiomyopathy, dilated, type 1L (CMD-1L) 606685 - - - SGCD - -
00296 CTRCT cataract (CTRCT) - - 948 921 AGK, BFSP1, BFSP2, CASP7, CRYAA, CRYBA4, CRYGC, CRYGD, FYCO1, GJA3, HSF4, LIM2, MIP, SOLH - -
00246 CTRCT13 cataract, type 13, with adult phenotype (CTRCT-13) 116700 AR 10 9 GCNT2 - -
02494 CTRCT2;CCL cataract, type 2 (CTRCT-2, Coppock-like (CCL)) 604307 AD 9 3 CRYGC - -
01451 DYT11 dystonia, myoclonic, type 11 (DYT11) 159900 AD 19 18 SGCE - myoclonic jerks affecting mostly proximal muscles; dystonia, usually torticollis or writer's cramp, observed in most patients, occasionally the only symptom; onset usually first or second decade; symptoms often respond to alcohol, patients may have psychiatric abnormalities
01296 DYT5 dystonia, type 5, dopa-responsive type (DYT-5) 128230 AD;AR 3 3 GCH1 - -
03339 FGQTL5 Fasting plasma glucose level quantitative trait locus 5 613463 - - - GCKR - -
00892 FIH1 hypoparathyroidism, familial isolated, type 1 (FIH) 146200 AD;AR - - GCM2, PTH - autosomal dominant
06730 FIH2 Hypoparathyroidism, familial isolated 2 618883 - - - GCM2 - -
00114 GA1 glutaricaciduria, type 1 (GA-1) 231670 AR 811 832 GCDH - autosomal recessive
00035 GCE encephalopathy, glycine (GCE) - - 588 588 AMT, GCSH, GLDC - -
05401 GPIBD16 glycosylphosphatidylinositol biosynthesis defect, type 16 (GPIBD-16) 617816 AR - - PIGC - -
02429 HHF3 hypoglycemia, hyperinsulinemic, familial, type 3 (HHF-3) 602485 AD 2 2 GCK - autosomal dominant
01895 HMGCLD HMG-CoA lyase deficiency 246450 AR 157 140 HMGCL - -
00170 HMGCS2D 3-hydroxy-3-methylglutaryl-CoA synthase deficiency, type 2D 605911 AR 14 14 HMGCS2 - -
05683 HPA hyperphenylalaninemia (HPA) - AD 37 37 GCH1, PCBD1, PTS, QDPR - -
01833 HPABH4B hyperphenylalaninemia, BH4-deficient, type B 233910 AR - - GCH1 - -
06698 HRPT4 Hyperparathyroidism 4 617343 AD - - GCM2 - -
00139 ID intellectual disability (ID) - - 2695 2377 AAAS, AARS2, ABCD1, ABCD4, ABHD5, ACAD9, ACO2, ACOX1, ACSF3, ACSL4, ACTB, ACTG1, ADAMTS10, ADAR, ADCK3, ADSL, AFF2, AGA, AGTR2, AHI1, 553 more - -
00245 Ii blood group antigen i (BG-i) 110800 AD 17 13 GCNT2 - -
00141 LGMD2 dystrophy, muscular, limb-girdle, autosomal recessive, type 2 (LGMD-2) - - 313 311 CAPN3, DYSF, FKRP, FKTN, SGCA, SGCB, SGCD, SGCG, TRAPPC11 - -
07012 LGMDR28;MYPLG dystrophy, muscular, limb-girdle, autosomal recessive, type 28 (MYPLG) 620375 AR - - HMGCR - -
02734 LGMDR3;LGMD2D dystrophy, muscular, limb-girdle, autosomal recessive, type 3 (LGMD2D) 608099 AR 15 14 SGCA - -
02492 LGMDR4;LGMD2E dystrophy, muscular, limb-girdle, autosomal recessive, type 4 (LGMD2E) 604286 AR 21 19 SGCB - -
01944 LGMDR5;LGMD2C dystrophy, muscular, limb-girdle, autosomal recessive, type 5 (LGMD2C) 253700 AR 20 20 SGCG - -
02350 LGMDR6;LGMD2F dystrophy, muscular, limb-girdle, autosomal recessive, type 6 (LGMD2F) 601287 AR - - SGCD - -
01113 MCCRP1 microcephaly and chorioretinopathy, autosomal recessive, type 1 (MCCRP-1) 251270 AR 1 2 TUBGCP6 - -
05053 MCCRP3 microcephaly and chorioretinopathy, autosomal recessive, type 3 (MCCRP-3) 616335 AR - - TUBGCP4 - -
02760 MCI1 myocardial infarction, susceptibility to, type 1 (MCI-1) 608446 - 41 2 ESR1, F13A1, F7, GCLC, GCLM, ITGB3, LGALS2, LTA, MIAT, OLR1, PSMA6, TNFSF4 - -
05121 MD dystrophy, muscular (MD) - - 4587 2658 HMGCR - -
07138 MMDS7 mitochondrial dysfunctions, multiple, syndrome, type 7 620423 AR - - GCSH - -
01286 MODY2 diabetes of the young, maturity-onset, type 2 (MODY-2) 125851 AD 25 23 GCK - -
06902 MVAH Mahvash disease 619290 AR - - GCGR - -
05611 NDD neurodevelopmental disorder (NDD) - - 3778 3593 ACBD6, ADARB1, AP1G1, ARFGEF1, ATP9A, CAMSAP1, CAPRIN1, CASP2, CHASERR, CPSF3L, DDB1, DENND5B, DHX30, DHX9, DOHH, DOT1L, EEFSEC, EIF2C1, EIF2C2, EIF4A2, 74 more - -
07005 NEDGS neurodevelopmental disorder with poor growth and skeletal anomalies 619880 AR 1 - PCDHGC4 - -
00151 NIDDM diabetes mellitus, type II (NIDDM) 125853 AD 8 7 ABCC8, AKT2, CDKAL1, ENPP1, GCGR, GCK, GPD2, HMGA1, HNF1A, HNF1B, HNF4A, IGF2BP2, IRS1, IRS2, KCNJ11, LIPC, MAPK8IP1, MTNR1B, NEUROD1, PAX4, 8 more - -
06101 PAMDDFS Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures 618737 AR - - TUBGCP2 - -
05783 PNDM1 diabetes mellitus, permanent neonatal, type 1 (PNDM1) 606176 AR 1 1 GCK - -
01048 VCFS velocardiofacial syndrome 192430 AD 2 2 DGCR14, DGCR2, DGCR6, DGCR8, TBX1 - -
02123 VKCFD1 vitamin K-dependent clotting factors, combined deficiency of, type 1 (VKCFD-1) 277450 AR - - GGCX - -
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