Mitochondria Phenome Knowledgebase

Phenotypic Feature Paleness finds 23 Gene-Feature associations that are associated with 23 Genes

Gene OMIM Disease Phenotypic Feature Phenotype Annotation Clinical Category PMIDs
ABCB7 301310 Paleness pallor dermatologic 11050011
ACADM 201450 Paleness dusky pallor; pale dermatologic 7929823 15858970
ACADVL 201475 Paleness looked pale dermatologic 11158518
AGXT 259900 Paleness pallor dermatologic 6770732 6829606
ALAS2 301300 Paleness pallor; pale dermatologic 1570328 7560104 10577279
ALDH5A1 271980 Paleness pale dermatologic 9093300
ATP7B 277900 Paleness pale child; mild pallor dermatologic 11060541 15636319
CYBB 306400 Paleness pallor dermatologic 16138344
CYP11B2 124080 Paleness pale dermatologic 12788848
CYP27A1 213700 Optic-nerve-diseases visual evoked potential abnormal; bilateral; electric retrobulbar optic neuropathy; optic disk paleness ophthalmologic 14572142 16278884
DLD 248600 Paleness pallor; infection triggered dermatologic 3769994 9934985 10448086 12925875
ETHE1 602473 Paleness pale skin dermatologic 12382164
GK 307030 Paleness pale dermatologic 15303806
HADHA 609015 Paleness pale infant dermatologic 7738175
HADHA 609016 Paleness dusky; pale dermatologic 11855930
MCCC2 210210 Paleness pale; dystrophic dermatologic 9537490
MTRR 236270 Paleness pallor dermatologic 12555939 12971424
OXCT1 245050 Paleness pallor dermatologic 10964512
PUS1 600462 Paleness dermatologic 7726239 14981724
RMRP 250250 Paleness pale dermatologic 14569125
SDHB 115310 Paleness pallor dermatologic 14715873
SLC19A2 249270 Paleness pale; pallor dermatologic 5767338 14627317
TAZ 300183 Paleness pale but normally perfused dermatologic 9332651
TAZ 302060 Paleness pallor dermatologic 16235007
UROS 263700 Paleness pallor dermatologic 9834209 10583066

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