All diseases

10 entries on 1 page. Showing entries 1 - 10.
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ID     

AscendingAbbreviation     

Name     

OMIM ID     

Inheritance     

Individuals     

Phenotypes     

Associated with genes

Associated tissues

Disease features
02176 - deficiency, phosphoglycerate kinase 1 300653 XLR 1 1 PGK1 - -
00296 CTRCT cataract (CTRCT) - - 1199 1172 AGK, BFSP1, BFSP2, CASP7, CRYAA, CRYBA4, CRYGC, CRYGD, FYCO1, GJA3, HSF4, LIM2, MIP, SOLH - -
03705 CTRCT38;CATC5 cataract, type 38 (CTRCT-38, cataract, autosomal recessive congenital 5 (CATC-5)) 614691 AR - - AGK - -
02239 GKD deficiency, glycerol kinase (GKD) 307030 XLR 70 51 GK - -
00139 ID intellectual disability (ID) - - 2752 2434 AAAS, AARS2, ABCD1, ABCD4, ABHD5, ACAD9, ACO2, ACOX1, ACSF3, ACSL4, ACTB, ACTG1, ADAMTS10, ADAR, ADCK3, ADSL, AFF2, AGA, AGTR2, AHI1, 555 more - -
05365 NEDHCAS neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures 618879 AR 23 23 PIGK - -
00399 NPHS nephrotic syndrome (NPHS) - - 108 90 ADCK4, ARHGDIA, DAAM2, DGKE, EMP2, LAMB2, NPHS1, NPHS2, NUP205, NUP93, PLCE1, PTPRO, WT1 - -
03804 NPHS7;AHUS7 nephrotic syndrome, type 7 (NPHS7, AHUS7 included) 615008 AR - - DGKE - -
06499 SEMDSH Spondyloepimetaphyseal dysplasia, Shohat type 602557 AR - - DDRGK1 - -
01695 Sengers;MTDPS10 Senger syndrome (mitochondrial DNA depletion syndrome, type 10 (cardiomyopathic type, MTDPS-10)) 212350 AR 1 1 AGK - -
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