partial albinism Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Absence of melanin pigment in various areas, which is found at birth and is permanent. The lesions are known as leucoderma and are often found on the face, trunk, or limbs. (Human Phenotype Ontology, HP_0007443)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0007443
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Genes

5 genes associated with the partial albinism phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
MITF microphthalmia-associated transcription factor
PAX3 paired box 3
SNAI2 snail family zinc finger 2
TYRP1 tyrosinase-related protein 1