aplasia/hypoplasia of the skin Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0008065
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Genes

112 genes associated with the aplasia/hypoplasia of the skin phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ABCC6 ATP-binding cassette, sub-family C (CFTR/MRP), member 6
ADAMTS2 ADAM metallopeptidase with thrombospondin type 1 motif, 2
AIP aryl hydrocarbon receptor interacting protein
ALAD aminolevulinate dehydratase
ALDH18A1 aldehyde dehydrogenase 18 family, member A1
ALX4 ALX homeobox 4
ANTXR2 anthrax toxin receptor 2
ARHGAP31 Rho GTPase activating protein 31
ARMC5 armadillo repeat containing 5
ATM ATM serine/threonine kinase
B3GALT6 UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6
B4GALT7 xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7
BMS1 BMS1 ribosome biogenesis factor
CHRNG cholinergic receptor, nicotinic, gamma (muscle)
CHUK conserved helix-loop-helix ubiquitous kinase
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
COX7B cytochrome c oxidase subunit VIIb
CPOX coproporphyrinogen oxidase
CTC1 CTS telomere maintenance complex component 1
CUL4B cullin 4B
DDB2 damage-specific DNA binding protein 2, 48kDa
DHCR24 24-dehydrocholesterol reductase
DKC1 dyskeratosis congenita 1, dyskerin
DOCK6 dedicator of cytokinesis 6
DST dystonin
EBP emopamil binding protein (sterol isomerase)
EDA ectodysplasin A
EDAR ectodysplasin A receptor
EDARADD EDAR-associated death domain
EOGT EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase
ERCC2 excision repair cross-complementation group 2
ERCC3 excision repair cross-complementation group 3
ERCC6 excision repair cross-complementation group 6
FBN1 fibrillin 1
FERMT1 fermitin family member 1
FLNA filamin A, alpha
GNAS GNAS complex locus
GNPTAB N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
GORAB golgin, RAB6-interacting
HCCS holocytochrome c synthase
HDAC8 histone deacetylase 8
HFE hemochromatosis
ITGA6 integrin, alpha 6
ITGB4 integrin, beta 4
KRT14 keratin 14, type I
KRT2 keratin 2, type II
KRT5 keratin 5, type II
LAMA3 laminin, alpha 3
LAMB3 laminin, beta 3
LAMC2 laminin, gamma 2
LIFR leukemia inhibitory factor receptor alpha
LMNA lamin A/C
MGP matrix Gla protein
MMP1 matrix metallopeptidase 1
MSX2 msh homeobox 2
MTAP methylthioadenosine phosphorylase
MVK mevalonate kinase
NFIX nuclear factor I/X (CCAAT-binding transcription factor)
NHP2 NHP2 ribonucleoprotein
NOP10 NOP10 ribonucleoprotein
NOTCH1 notch 1
NSDHL NAD(P) dependent steroid dehydrogenase-like
ORC1 origin recognition complex, subunit 1
PDE11A phosphodiesterase 11A
PDE8B phosphodiesterase 8B
PEPD peptidase D
PIK3R1 phosphoinositide-3-kinase, regulatory subunit 1 (alpha)
PLEC plectin
PLOD1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1
POLD1 polymerase (DNA directed), delta 1, catalytic subunit
POLH polymerase (DNA directed), eta
PORCN porcupine homolog (Drosophila)
PPOX protoporphyrinogen oxidase
PRKAR1A protein kinase, cAMP-dependent, regulatory, type I, alpha
PROC protein C (inactivator of coagulation factors Va and VIIIa)
PROS1 protein S (alpha)
PTDSS1 phosphatidylserine synthase 1
PYCR1 pyrroline-5-carboxylate reductase 1
RBPJ recombination signal binding protein for immunoglobulin kappa J region
RECQL4 RecQ protein-like 4
RTEL1 regulator of telomere elongation helicase 1
SATB2 SATB homeobox 2
SH3BP2 SH3-domain binding protein 2
SLC29A3 solute carrier family 29 (equilibrative nucleoside transporter), member 3
SLC2A10 solute carrier family 2 (facilitated glucose transporter), member 10
SLC39A13 solute carrier family 39 (zinc transporter), member 13
SMAD3 SMAD family member 3
SOX18 SRY (sex determining region Y)-box 18
TERC telomerase RNA component
TERT telomerase reverse transcriptase
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)
TINF2 TERF1 (TRF1)-interacting nuclear factor 2
TNXB tenascin XB
TP63 tumor protein p63
TRAF6 TNF receptor-associated factor 6, E3 ubiquitin protein ligase
TWIST2 twist family bHLH transcription factor 2
UBE3B ubiquitin protein ligase E3B
UBR1 ubiquitin protein ligase E3 component n-recognin 1
UROD uroporphyrinogen decarboxylase
USB1 U6 snRNA biogenesis 1
WRAP53 WD repeat containing, antisense to TP53
WRN Werner syndrome, RecQ helicase-like
XPA xeroderma pigmentosum, complementation group A
XPC xeroderma pigmentosum, complementation group C
ZMPSTE24 zinc metallopeptidase STE24