regional abnormality of skin Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An abnormality of the skin that is restricted to a particular body region. (Human Phenotype Ontology, HP_0011356)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0011356
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Genes

192 genes associated with the regional abnormality of skin phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
A2ML1 alpha-2-macroglobulin-like 1
AAAS achalasia, adrenocortical insufficiency, alacrimia
ABCC9 ATP-binding cassette, sub-family C (CFTR/MRP), member 9
ABCD3 ATP-binding cassette, sub-family D (ALD), member 3
ADAM17 ADAM metallopeptidase domain 17
AIP aryl hydrocarbon receptor interacting protein
AKT1 v-akt murine thymoma viral oncogene homolog 1
AMACR alpha-methylacyl-CoA racemase
ANKRD11 ankyrin repeat domain 11
ARID1A AT rich interactive domain 1A (SWI-like)
ARID1B AT rich interactive domain 1B (SWI1-like)
ASXL1 additional sex combs like transcriptional regulator 1
ATP2A2 ATPase, Ca++ transporting, cardiac muscle, slow twitch 2
ATP6V0A2 ATPase, H+ transporting, lysosomal V0 subunit a2
ATR ATR serine/threonine kinase
B3GALTL beta 1,3-galactosyltransferase-like
B4GALT7 xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7
BAZ1B bromodomain adjacent to zinc finger domain, 1B
BHLHA9 basic helix-loop-helix family, member a9
BMP4 bone morphogenetic protein 4
BRAF B-Raf proto-oncogene, serine/threonine kinase
CCBE1 collagen and calcium binding EGF domains 1
CD151 CD151 molecule (Raph blood group)
CD96 CD96 molecule
CHD7 chromodomain helicase DNA binding protein 7
CHRNA1 cholinergic receptor, nicotinic, alpha 1 (muscle)
CHRND cholinergic receptor, nicotinic, delta (muscle)
CHRNG cholinergic receptor, nicotinic, gamma (muscle)
CHST3 carbohydrate (chondroitin 6) sulfotransferase 3
CLIP2 CAP-GLY domain containing linker protein 2
COG6 component of oligomeric golgi complex 6
COL7A1 collagen, type VII, alpha 1
CREBBP CREB binding protein
CTSC cathepsin C
DDX11 DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11
DHCR7 7-dehydrocholesterol reductase
DHODH dihydroorotate dehydrogenase (quinone)
DIS3L2 DIS3 like 3'-5' exoribonuclease 2
DOCK6 dedicator of cytokinesis 6
DOK7 docking protein 7
DPAGT1 dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)
DSP desmoplakin
EFNB1 ephrin-B1
EHMT1 euchromatic histone-lysine N-methyltransferase 1
ELN elastin
EPHX1 epoxide hydrolase 1, microsomal (xenobiotic)
ERCC6 excision repair cross-complementation group 6
ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2
EXT1 exostosin glycosyltransferase 1
EYA1 EYA transcriptional coactivator and phosphatase 1
EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit
FERMT1 fermitin family member 1
FGD1 FYVE, RhoGEF and PH domain containing 1
FGF9 fibroblast growth factor 9
FGFR2 fibroblast growth factor receptor 2
FGFR3 fibroblast growth factor receptor 3
FIG4 FIG4 phosphoinositide 5-phosphatase
FKBP10 FK506 binding protein 10, 65 kDa
FNBP4 formin binding protein 4
G6PC3 glucose 6 phosphatase, catalytic, 3
GATA1 GATA binding protein 1 (globin transcription factor 1)
GDF5 growth differentiation factor 5
GJB2 gap junction protein, beta 2, 26kDa
GJB6 gap junction protein, beta 6, 30kDa
GPC6 glypican 6
GTF2I general transcription factor IIi
GTF2IRD1 GTF2I repeat domain containing 1
HDAC4 histone deacetylase 4
HDAC8 histone deacetylase 8
HOXA13 homeobox A13
HPGD hydroxyprostaglandin dehydrogenase 15-(NAD)
HRAS Harvey rat sarcoma viral oncogene homolog
IFT122 intraflagellar transport 122
IRF6 interferon regulatory factor 6
ITGA6 integrin, alpha 6
ITGB4 integrin, beta 4
KANSL1 KAT8 regulatory NSL complex subunit 1
KAT6B K(lysine) acetyltransferase 6B
KCNJ8 potassium channel, inwardly rectifying subfamily J, member 8
KDM6A lysine (K)-specific demethylase 6A
KMT2D lysine (K)-specific methyltransferase 2D
KRAS Kirsten rat sarcoma viral oncogene homolog
KRT1 keratin 1, type II
KRT10 keratin 10, type I
KRT14 keratin 14, type I
KRT16 keratin 16, type I
KRT17 keratin 17, type I
KRT5 keratin 5, type II
KRT9 keratin 9, type I
LIFR leukemia inhibitory factor receptor alpha
LIMK1 LIM domain kinase 1
LMX1B LIM homeobox transcription factor 1, beta
LRP4 low density lipoprotein receptor-related protein 4
MAP2K1 mitogen-activated protein kinase kinase 1
MAP2K2 mitogen-activated protein kinase kinase 2
MBTPS2 membrane-bound transcription factor peptidase, site 2
MED12 mediator complex subunit 12
MYH3 myosin, heavy chain 3, skeletal muscle, embryonic
NAA10 N(alpha)-acetyltransferase 10, NatA catalytic subunit
NBAS neuroblastoma amplified sequence
NIPBL Nipped-B homolog (Drosophila)
NOG noggin
NRAS neuroblastoma RAS viral (v-ras) oncogene homolog
OFD1 oral-facial-digital syndrome 1
PAX1 paired box 1
PEPD peptidase D
PEX1 peroxisomal biogenesis factor 1
PEX10 peroxisomal biogenesis factor 10
PEX11B peroxisomal biogenesis factor 11 beta
PEX12 peroxisomal biogenesis factor 12
PEX13 peroxisomal biogenesis factor 13
PEX14 peroxisomal biogenesis factor 14
PEX16 peroxisomal biogenesis factor 16
PEX19 peroxisomal biogenesis factor 19
PEX2 peroxisomal biogenesis factor 2
PEX26 peroxisomal biogenesis factor 26
PEX3 peroxisomal biogenesis factor 3
PEX5 peroxisomal biogenesis factor 5
PEX6 peroxisomal biogenesis factor 6
PHGDH phosphoglycerate dehydrogenase
PIEZO2 piezo-type mechanosensitive ion channel component 2
PIGL phosphatidylinositol glycan anchor biosynthesis, class L
PLEC plectin
PLOD1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1
PLOD2 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2
PLOD3 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3
PSAT1 phosphoserine aminotransferase 1
PTCH1 patched 1
PTCH2 patched 2
PTEN phosphatase and tensin homolog
PTPN11 protein tyrosine phosphatase, non-receptor type 11
PVRL1 poliovirus receptor-related 1 (herpesvirus entry mediator C)
RAB3GAP1 RAB3 GTPase activating protein subunit 1 (catalytic)
RAB3GAP2 RAB3 GTPase activating protein subunit 2 (non-catalytic)
RAB40AL RAB40A, member RAS oncogene family-like
RAD21 RAD21 homolog (S. pombe)
RAF1 Raf-1 proto-oncogene, serine/threonine kinase
RAPSN receptor-associated protein of the synapse
RB1 retinoblastoma 1
RBM10 RNA binding motif protein 10
RFC2 replication factor C (activator 1) 2, 40kDa
RHBDF2 rhomboid 5 homolog 2 (Drosophila)
RIN2 Ras and Rab interactor 2
RIPK4 receptor-interacting serine-threonine kinase 4
RIT1 Ras-like without CAAX 1
RNU4ATAC RNA, U4atac small nuclear (U12-dependent splicing)
ROR2 receptor tyrosine kinase-like orphan receptor 2
RPS6KA3 ribosomal protein S6 kinase, 90kDa, polypeptide 3
SALL4 spalt-like transcription factor 4
SEMA3E sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
SERPINB7 serpin peptidase inhibitor, clade B (ovalbumin), member 7
SETBP1 SET binding protein 1
SIX6 SIX homeobox 6
SLC16A2 solute carrier family 16, member 2 (thyroid hormone transporter)
SLC39A13 solute carrier family 39 (zinc transporter), member 13
SLC39A4 solute carrier family 39 (zinc transporter), member 4
SLURP1 secreted LY6/PLAUR domain containing 1
SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4
SMARCAD1 SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1
SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
SMARCE1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1
SMC1A structural maintenance of chromosomes 1A
SMC3 structural maintenance of chromosomes 3
SMOC1 SPARC related modular calcium binding 1
SOS1 son of sevenless homolog 1 (Drosophila)
SOX11 SRY (sex determining region Y)-box 11
SPECC1L sperm antigen with calponin homology and coiled-coil domains 1-like
STAT3 signal transducer and activator of transcription 3 (acute-phase response factor)
SUFU suppressor of fused homolog (Drosophila)
TBL2 transducin (beta)-like 2
TBX2 T-box 2
TBX4 T-box 4
TCF12 transcription factor 12
TCF4 transcription factor 4
TFAP2A transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
TNNI2 troponin I type 2 (skeletal, fast)
TNNT3 troponin T type 3 (skeletal, fast)
TP63 tumor protein p63
TPM2 tropomyosin 2 (beta)
TRPS1 trichorhinophalangeal syndrome I
TSC1 tuberous sclerosis 1
TSC2 tuberous sclerosis 2
TWIST1 twist family bHLH transcription factor 1
UBA1 ubiquitin-like modifier activating enzyme 1
UBE2A ubiquitin-conjugating enzyme E2A
UBR1 ubiquitin protein ligase E3 component n-recognin 1
VPS13B vacuolar protein sorting 13 homolog B (yeast)
WNK1 WNK lysine deficient protein kinase 1
WNT10A wingless-type MMTV integration site family, member 10A
WNT7A wingless-type MMTV integration site family, member 7A
XYLT1 xylosyltransferase I
ZNF469 zinc finger protein 469