Mitochondria Phenome Knowledgebase

Phenotypic Feature Renal-insufficiency finds 39 Gene-Feature associations that are associated with 37 Genes

Gene OMIM Disease Phenotypic Feature Phenotype Annotation Clinical Category PMIDs
ABCD1 300100 Adrenal-insufficiency primary adrenal insufficiency; adrenal atrophy; adrenocortical insufficiency; Addisons disease; adrenal failure; atrophied adrenal glands endocrinologic 961799 3561956 7849723 10369742 10426149 #11204280 11438993 11810273 14586615 15564782 16130276 16672758
ACADM 201450 Renal-insufficiency moderate renal insufficiency; acute renal failure genitourinary 7876853 12897989
ACADVL 201475 Renal-insufficiency renal failure; proteinuria genitourinary 10910451
ACAT1 203750 Renal-insufficiency renal failure genitourinary 10604145
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
ATP7B 277900 Renal-insufficiency renal tubular damage genitourinary 10790207 11060541 15368714
ATPAF2 604273 Renal-insufficiency due to kidney hypoplasia genitourinary 14757859
BCS1L 124000 Renal-insufficiency proximal tubulopathy; De Toni Fanconi Debre syndrome; renal tubulopathy genitourinary 11528392 12910490
BCS1L 603358 Renal-insufficiency renal tubular dysfunction; renal tubular acidosis; De Toni Fanconi Debre syndrome; bicarbonate loss genitourinary 7577396 9482441 12215968
COX10 220110 Renal-insufficiency tubular dysfunction; renal tubular acidosis; De Toni Fanconi Debre syndrome; hypercalciuria; hyperphosphaturia; proteinuria genitourinary 2834526 10767350
CPOX 121300 Adrenal-insufficiency adrenal hypofunction endocrinologic 11739202
CPT1A 255120 Renal-insufficiency renal tubular acidosis; chloride levels elevated; low serum bicarbonate genitourinary 11286380 11350183
CPT2 255110 Renal-insufficiency renal failure; renal tubular dysfunction; acute renal failure genitourinary 2748260 8358442 8815169 10398215 10862092 11999976 15642848 15776096
CPT2 600649 Renal-insufficiency renal tubular dysfunction; renal failure genitourinary 11389301 11477613 12410208
CYBB 306400 Renal-insufficiency renal failure genitourinary 15082894
CYP11A1 201710 Adrenal-insufficiency endocrinologic 11502818 12161514 15507506 16705068
CYP11B1 202010 Adrenal-insufficiency cortisol production impaired; failure to convert 11 deoxycortisol to cortisol endocrinologic #1430088 #2022736 8506298 #8768848 #9302260 #9435454 #11095433 #15755848 #16030166
CYP11B2 124080 Renal-insufficiency renal failure; progressive genitourinary 11238478
CYP11B2 124080 Adrenal-insufficiency aldosterone deficiency; primary; elevated excretion of cortisol and cortisone metabolites endocrinologic #1594605 #2044581 9360501 #9625333 #9814506 11238478 #12788848
DGUOK 251880 Renal-insufficiency tubulopathy; hypercalciuria genitourinary 15964659
DLD 248600 Renal-insufficiency proximal tubulopathy; De Toni Fanconi Debre syndrome; renal tubulopathy; variable genitourinary 12925875
DMPK 160900 Adrenal-insufficiency endocrinologic #11874404 #11874420
GCK 125851 Renal-insufficiency nephropathy; proteinuria genitourinary 9049484
GK 307030 Renal-insufficiency proteinuria; hyperproteinuria genitourinary 11479736
GLDC 605899 Renal-insufficiency renal tubular dysfunction genitourinary 10798358
HADHA 609015 Renal-insufficiency renal failure; acute failure; oliguria; anuria genitourinary 11855930 12971428 15902556
HADHA 609016 Renal-insufficiency renal function impaired; proteinuria; renal failure genitourinary 8094173 8931405 10352164 12413376
HSD3B2 201810 Adrenal-insufficiency adrenal deficiency; gonadal deficiency endocrinologic 295036 1363812 8284113 10843183 #12050213
MPV17 256810 Renal-insufficiency renal dysfunction genitourinary 10518083
MUT 251000 Renal-insufficiency renal failure; chronic; renal involvement genitourinary 12118529 16186538 16281286 16435223
NAGS 237310 Renal-insufficiency renal tubular acidosis; oliguria genitourinary 7623444 12447942
OXCT1 245050 Renal-insufficiency renal tubular dysfunction genitourinary 11757586
PC 266150 Renal-insufficiency proximal; renal tubular dysfunction genitourinary 6422151 7503391
PPOX 176200 Renal-insufficiency renal failure; IgA nephropathy; proteinuria genitourinary 11286631
SLC25A13 603471 Renal-insufficiency chronic renal insufficiency; renal parenchymal disease genitourinary 11432966
SLC25A20 212138 Renal-insufficiency renal failure; tubular necrosis genitourinary 15159657 15365988
STAR 201710 Adrenal-insufficiency primary adrenal insufficiency endocrinologic 8634702 9141542 9215316 #9829224 #10323391 10566637 #11061515 #14764819 #15546900 #15666846 15985476 16118340
SURF1 220110 Renal-insufficiency partial tubular dysfunction; De Toni Fanconi Debre syndrome genitourinary 10746561 16225813
TAZ 302060 Renal-insufficiency tubulopathy; De Toni Fanconi Debre syndrome genitourinary 14654353
TK2 609560 Renal-insufficiency renal tubulopathy genitourinary 12655576
WFS1 222300 Adrenal-insufficiency secondary adrenal insufficiency; hypothalamic dysfunction; hypoadrenalism endocrinologic 15277431 #16005363
WFS1 222300 Renal-insufficiency renal failure; diabetic nephropathy; nephropathy; urinary tract dilatation; tubulopathy genitourinary 12754709 15070927 15151504 15605410

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