Stomatocytosis Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description The presence of erythrocytes with a mouth-shaped (stoma) area of central pallor on peripheral blood smear. (Human Phenotype Ontology, HP_0004446)
External Link https://www.disgenet.org/browser/0/1/0/C1861455
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Genes

19 genes associated with the disease Stomatocytosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ACP3 acid phosphatase 3
ASAP1 ArfGAP with SH3 domain, ankyrin repeat and PH domain 1
ASAP2 ArfGAP with SH3 domain, ankyrin repeat and PH domain 2
ATP7A ATPase, Cu++ transporting, alpha polypeptide
CENPJ centromere protein J
DESI1 desumoylating isopeptidase 1
MRPS30 mitochondrial ribosomal protein S30
MTPAP mitochondrial poly(A) polymerase
NOS3 nitric oxide synthase 3 (endothelial cell)
PAPOLA poly(A) polymerase alpha
PDAP1 PDGFA associated protein 1
PIEZO1 piezo-type mechanosensitive ion channel component 1
POMC proopiomelanocortin
REG3A regenerating islet-derived 3 alpha
RHAG Rh-associated glycoprotein
SLC35G1 solute carrier family 35, member G1
STOM stomatin
TFRC transferrin receptor
TUSC2 tumor suppressor candidate 2