Mitochondria Phenome Knowledgebase

Phenotypic Feature Blood-protein-disorders finds 20 Gene-Feature associations that are associated with 20 Genes

Gene OMIM Disease Phenotypic Feature Phenotype Annotation Clinical Category PMIDs
ACADM 201450 Blood-protein-disorders hematologic #11346377
ATP7B 277900 Blood-protein-disorders hematologic #11060541 #12894051
BCL2 151400 Blood-protein-disorders hematologic #10561025 #12200703
BCS1L 124000 Blood-protein-disorders hypoproteinemia hematologic 11528392 12910490
BCS1L 603358 Blood-protein-disorders serum haptoglobin levels decreased hematologic 9482441
CASP8 607271 Blood-protein-disorders hematologic #12353035
CYBB 306400 Blood-protein-disorders hematologic #15308575
DGUOK 251880 Blood-protein-disorders hematologic #12205643 #15883261 #15964659
DLAT 109720 Blood-protein-disorders hematologic #8900092
DMPK 160900 Blood-protein-disorders hematologic #12601109 #15770660
ECGF1 603041 Blood-protein-disorders hematologic #15607208 #15742109
GCK 125851 Blood-protein-disorders low apoproteins A1 levels; high apoprotein B levels; high lipoprotein levels hematologic 9049484
HADHA 609016 Blood-protein-disorders hematologic #9003853 #12162610
HK1 235700 Blood-protein-disorders hematologic #6848140 #12393545
PCCB 606054 Blood-protein-disorders serum protein levels decreased; total protein decreased hematologic 6820422 9683601
POLG 203700 Blood-protein-disorders hematologic #15689359 #16177225 #16545482
POLG 258450 Blood-protein-disorders hematologic #16638794
RMRP 250250 Blood-protein-disorders hematologic #11035826
SLC25A13 605814 Blood-protein-disorders hypoproteinemia; transient hypoproteinemia; serum haptoglobin levels decreased hematologic #11343052 11343053 #11793471 #11999983 14680984 15542392
SOD1 105400 Blood-protein-disorders hematologic #16423367
UNG 608106 Blood-protein-disorders hematologic #12958596
UROS 263700 Blood-protein-disorders hematologic #12533808

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