Mitochondria Phenome Knowledgebase

Phenotypic Feature Uremia finds 16 Gene-Feature associations that are associated with 14 Genes

Gene OMIM Disease Phenotypic Feature Phenotype Annotation Clinical Category PMIDs
ACADM 201450 Uremia increase of plasma urea; elevated urea levels genitourinary 7876853 11346377
ACADS 201470 Uremia blood urea nitrogen elevated genitourinary 3571488
ACADVL 201475 Uremia increased serum urea; blood urea elevated genitourinary 10910451
ACAT1 203750 Uremia increased serum urea; urea elevated genitourinary 7173255 15877211
AGXT 259900 Renal-insufficiency renal failure; uremia; polyuria; end stage renal disease; end stage renal failure; acute kidney failure; renal colic; proteinuria; anuria genitourinary 6770732 6829606 9192270 9831280 10586179 11562405 11682674 12768081 14657686 15253729 15327387 15356974 15365967 15580002 15603729
AGXT 259900 Uremia urea levels abnormal; blood urea elevated; uremic symptoms genitourinary 6770732 6829606 10586179 11682674 12768081 15356974 15603729
AGXT 259900 Nephritis pyelonephritis; infections; uremia; tubulo interstitial nephritis genitourinary 10586179 15327387 15356974
CPS1 237300 Hypouremia BUN test abnormal; BUN decreased; decreased urea levels; urea cycle defect metabolic 6465866 9309714 15617192
CPT1A 255120 Uremia blood urea nitrogen elevated genitourinary 11441142
CPT2 255110 Uremia blood urea nitrogen elevated; related to anuria genitourinary 8815169
CPT2 600649 Uremia serum urea nitrogen increased; BUN increased genitourinary 8682496
CYP11B2 124080 Uremia serum urea nitrogen increased; BUN increased genitourinary 11238478
HSD3B2 201810 Uremia serum urea nitrogen increased; BUN increased genitourinary 10770215
NAGS 237310 Hypouremia ureagenesis abnormal; BUN test abnormal; BUN decreased; decreased urea levels; low normal urea levels; plasma urea decreased metabolic 7623444 15480384 15714518
OTC 311250 Hypouremia BUN test abnormal; BUN decreased; plasma urea levels decreased metabolic 8732901 15243986 15578616
OXCT1 245050 Uremia urea levels elevated genitourinary 9392403 11757586
SLC25A20 212138 Uremia urea levels elevated genitourinary 15365988

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