cutaneous photosensitivity Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An increased sensitivity of the skin to light. Photosensitivity may result in a rash upon exposure to the sun (which is known as photodermatosis). Photosensitivity can be diagnosed by phototests in which light is shone on small areas of skin. (Human Phenotype Ontology, HP_0000992)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0000992
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Genes

52 genes associated with the cutaneous photosensitivity phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ABCB6 ATP-binding cassette, sub-family B (MDR/TAP), member 6 (Langereis blood group)
ALAD aminolevulinate dehydratase
ALAS2 5'-aminolevulinate synthase 2
BLM Bloom syndrome, RecQ helicase-like
C4A complement component 4A (Rodgers blood group)
CHD2 chromodomain helicase DNA binding protein 2
CPOX coproporphyrinogen oxidase
CYBA cytochrome b-245, alpha polypeptide
CYBB cytochrome b-245, beta polypeptide
DDB2 damage-specific DNA binding protein 2, 48kDa
DHCR7 7-dehydrocholesterol reductase
EPM2A epilepsy, progressive myoclonus type 2A, Lafora disease (laforin)
ERCC1 excision repair cross-complementation group 1
ERCC2 excision repair cross-complementation group 2
ERCC3 excision repair cross-complementation group 3
ERCC4 excision repair cross-complementation group 4
ERCC5 excision repair cross-complementation group 5
ERCC6 excision repair cross-complementation group 6
ERCC8 excision repair cross-complementation group 8
FECH ferrochelatase
FERMT1 fermitin family member 1
GATA1 GATA binding protein 1 (globin transcription factor 1)
GJB3 gap junction protein, beta 3, 31kDa
GJB4 gap junction protein, beta 4, 30.3kDa
GTF2H5 general transcription factor IIH, polypeptide 5
HFE hemochromatosis
LIG4 ligase IV, DNA, ATP-dependent
MVK mevalonate kinase
NBN nibrin
NCF1 neutrophil cytosolic factor 1
NCF2 neutrophil cytosolic factor 2
NCF4 neutrophil cytosolic factor 4, 40kDa
NDN necdin, melanoma antigen (MAGE) family member
NHLRC1 NHL repeat containing E3 ubiquitin protein ligase 1
NSUN2 NOP2/Sun RNA methyltransferase family, member 2
PCNA proliferating cell nuclear antigen
PEPD peptidase D
POLH polymerase (DNA directed), eta
PPOX protoporphyrinogen oxidase
RECQL4 RecQ protein-like 4
SAMHD1 SAM domain and HD domain 1
SLC6A19 solute carrier family 6 (neutral amino acid transporter), member 19
SNRPN small nuclear ribonucleoprotein polypeptide N
TP63 tumor protein p63
TREX1 three prime repair exonuclease 1
TYRP1 tyrosinase-related protein 1
UROD uroporphyrinogen decarboxylase
UROS uroporphyrinogen III synthase
UVSSA UV-stimulated scaffold protein A
WNT10A wingless-type MMTV integration site family, member 10A
XPA xeroderma pigmentosum, complementation group A
XPC xeroderma pigmentosum, complementation group C