pallor Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Abnormally pale skin. (Human Phenotype Ontology, HP_0000980)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0000980
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Genes

43 genes associated with the pallor phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ABCA4 ATP-binding cassette, sub-family A (ABC1), member 4
BCL11A B-cell CLL/lymphoma 11A (zinc finger protein)
C15ORF41 chromosome 15 open reading frame 41
CLCN7 chloride channel, voltage-sensitive 7
DHFR dihydrofolate reductase
FANCA Fanconi anemia, complementation group A
FANCC Fanconi anemia, complementation group C
FANCD2 Fanconi anemia, complementation group D2
FANCE Fanconi anemia, complementation group E
FH fumarate hydratase
GATA1 GATA binding protein 1 (globin transcription factor 1)
GATA2 GATA binding protein 2
HBA1 hemoglobin, alpha 1
HBA2 hemoglobin, alpha 2
HBB hemoglobin, beta
HBG1 hemoglobin, gamma A
HBG2 hemoglobin, gamma G
KLF1 Kruppel-like factor 1 (erythroid)
KLHL7 kelch-like family member 7
LRAT lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)
MMACHC methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria
MMADHC methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria
MYD88 myeloid differentiation primary response 88
PIEZO1 piezo-type mechanosensitive ion channel component 1
POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
PUS1 pseudouridylate synthase 1
RPL11 ribosomal protein L11
RPL15 ribosomal protein L15
RPL26 ribosomal protein L26
RPL35A ribosomal protein L35a
RPL5 ribosomal protein L5
RPS10 ribosomal protein S10
RPS17 ribosomal protein S17
RPS19 ribosomal protein S19
RPS24 ribosomal protein S24
RPS26 ribosomal protein S26
RPS29 ribosomal protein S29
RPS7 ribosomal protein S7
SLC46A1 solute carrier family 46 (folate transporter), member 1
SNX10 sorting nexin 10
TCIRG1 T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3
TNFSF11 tumor necrosis factor (ligand) superfamily, member 11
VPS13A vacuolar protein sorting 13 homolog A (S. cerevisiae)