atypical scarring of skin Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Atypically scarred skin . (Human Phenotype Ontology, HP_0000987)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0000987
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Genes

108 genes associated with the atypical scarring of skin 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
ADAMTS2 ADAM metallopeptidase with thrombospondin type 1 motif, 2
APC adenomatous polyposis coli
ARL2BP ADP-ribosylation factor-like 2 binding protein
ARL6 ADP-ribosylation factor-like 6
ATP7A ATPase, Cu++ transporting, alpha polypeptide
B3GALT6 UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6
B4GALT7 xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7
BEST1 bestrophin 1
C2ORF71 chromosome 2 open reading frame 71
C8ORF37 chromosome 8 open reading frame 37
CA4 carbonic anhydrase IV
CDHR1 cadherin-related family member 1
CERKL ceramide kinase-like
CLRN1 clarin 1
CNGA1 cyclic nucleotide gated channel alpha 1
CNGB1 cyclic nucleotide gated channel beta 1
COL1A1 collagen, type I, alpha 1
COL1A2 collagen, type I, alpha 2
COL3A1 collagen, type III, alpha 1
COL5A1 collagen, type V, alpha 1
COL5A2 collagen, type V, alpha 2
COL7A1 collagen, type VII, alpha 1
CRB1 crumbs family member 1, photoreceptor morphogenesis associated
CREBBP CREB binding protein
CRX cone-rod homeobox
DHDDS dehydrodolichyl diphosphate synthase
DST dystonin
ECM1 extracellular matrix protein 1
ERCC6 excision repair cross-complementation group 6
ERCC8 excision repair cross-complementation group 8
EYS eyes shut homolog (Drosophila)
FAM161A family with sequence similarity 161, member A
FERMT1 fermitin family member 1
FSCN2 fascin actin-bundling protein 2, retinal
GJB2 gap junction protein, beta 2, 26kDa
GUCA1B guanylate cyclase activator 1B (retina)
HFE hemochromatosis
IDH3B isocitrate dehydrogenase 3 (NAD+) beta
IMPDH1 IMP (inosine 5'-monophosphate) dehydrogenase 1
IMPG2 interphotoreceptor matrix proteoglycan 2
ITGA6 integrin, alpha 6
ITGB4 integrin, beta 4
KIZ kizuna centrosomal protein
KLHL7 kelch-like family member 7
KRT14 keratin 14, type I
KRT5 keratin 5, type II
LAMA3 laminin, alpha 3
LAMB3 laminin, beta 3
LAMC2 laminin, gamma 2
LEMD3 LEM domain containing 3
LRAT lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)
MAK male germ cell-associated kinase
MBTPS2 membrane-bound transcription factor peptidase, site 2
MERTK MER proto-oncogene, tyrosine kinase
MMP1 matrix metallopeptidase 1
NCSTN nicastrin
NEK2 NIMA-related kinase 2
NR2E3 nuclear receptor subfamily 2, group E, member 3
NRL neural retina leucine zipper
OCRL oculocerebrorenal syndrome of Lowe
OFD1 oral-facial-digital syndrome 1
PDE6A phosphodiesterase 6A, cGMP-specific, rod, alpha
PDE6B phosphodiesterase 6B, cGMP-specific, rod, beta
PDE6G phosphodiesterase 6G, cGMP-specific, rod, gamma
PLEC plectin
PLOD1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1
PRCD progressive rod-cone degeneration
PRDM5 PR domain containing 5
PROM1 prominin 1
PRPF3 pre-mRNA processing factor 3
PRPF31 pre-mRNA processing factor 31
PRPF4 pre-mRNA processing factor 4
PRPF6 pre-mRNA processing factor 6
PRPF8 pre-mRNA processing factor 8
PRPH2 peripherin 2 (retinal degeneration, slow)
RBP3 retinol binding protein 3, interstitial
RDH12 retinol dehydrogenase 12 (all-trans/9-cis/11-cis)
RGR retinal G protein coupled receptor
RHO rhodopsin
RLBP1 retinaldehyde binding protein 1
ROM1 retinal outer segment membrane protein 1
RP1 retinitis pigmentosa 1 (autosomal dominant)
RP2 retinitis pigmentosa 2 (X-linked recessive)
RP9 retinitis pigmentosa 9 (autosomal dominant)
RPE65 retinal pigment epithelium-specific protein 65kDa
RPGR retinitis pigmentosa GTPase regulator
SAG S-antigen; retina and pineal gland (arrestin)
SAT1 spermidine/spermine N1-acetyltransferase 1
SEMA4A sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A
SLC39A13 solute carrier family 39 (zinc transporter), member 13
SLC7A14 solute carrier family 7, member 14
SNRNP200 small nuclear ribonucleoprotein 200kDa (U5)
SPATA7 spermatogenesis associated 7
TFAP2A transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
TGFBR1 transforming growth factor, beta receptor 1
TGFBR2 transforming growth factor, beta receptor II (70/80kDa)
TNXB tenascin XB
TOPORS topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase
TTC8 tetratricopeptide repeat domain 8
TUB tubby bipartite transcription factor
TULP1 tubby like protein 1
UROD uroporphyrinogen decarboxylase
UROS uroporphyrinogen III synthase
USH2A Usher syndrome 2A (autosomal recessive, mild)
ZMPSTE24 zinc metallopeptidase STE24
ZNF469 zinc finger protein 469
ZNF513 zinc finger protein 513