All diseases

6 entries on 1 page. Showing entries 1 - 6.

ID     

AscendingAbbreviation     

Name     

OMIM ID     

Individuals     

Phenotypes     

Associated with genes

Associated tissues

Disease features
02176 - deficiency, phosphoglycerate kinase 1 300653 1 1 PGK1 - -
03705 CTRCT-38;CATC-5 cataract, type 38 (CTRCT-38, cataract, autosomal recessive congenital 5 (CATC-5)) 614691 0 0 AGK - -
02239 GKD deficiency, glycerol kinase (GKD) 307030 65 51 GK - -
00399 NPHS nephrotic syndrome (NPHS) - 30 28 ADCK4, ARHGDIA, DGKE, EMP2, LAMB2, NPHS1, NPHS2, NUP205, NUP93, PLCE1, PTPRO, WT1 - -
03804 NPHS-7 nephrotic syndrome, type 7 (NPHS-7) 615008 0 0 DGKE - -
01695 Senger;MTDPS-10 Senger syndrome (mitochondrial DNA depletion syndrome, type 10 (cardiomyopathic type, MTDPS-10)) 212350 0 0 AGK - -