dermatological manifestations of systemic disorders Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0001005
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Genes

120 genes associated with the dermatological manifestations of systemic disorders phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ABCB11 ATP-binding cassette, sub-family B (MDR/TAP), member 11
ABCB4 ATP-binding cassette, sub-family B (MDR/TAP), member 4
ABCC2 ATP-binding cassette, sub-family C (CFTR/MRP), member 2
ABCD3 ATP-binding cassette, sub-family D (ALD), member 3
ACVRL1 activin A receptor type II-like 1
ADAMTS13 ADAM metallopeptidase with thrombospondin type 1 motif, 13
AGXT alanine-glyoxylate aminotransferase
AKR1D1 aldo-keto reductase family 1, member D1
ALDH1A1 aldehyde dehydrogenase 1 family, member A1
ALDH2 aldehyde dehydrogenase 2 family (mitochondrial)
ALDOA aldolase A, fructose-bisphosphate
ALDOB aldolase B, fructose-bisphosphate
AMACR alpha-methylacyl-CoA racemase
ANK1 ankyrin 1, erythrocytic
ATP8B1 ATPase, aminophospholipid transporter, class I, type 8B, member 1
BPGM 2,3-bisphosphoglycerate mutase
C15ORF41 chromosome 15 open reading frame 41
C1R complement component 1, r subcomponent
C5ORF42 chromosome 5 open reading frame 42
CALR calreticulin
CAV1 caveolin 1, caveolae protein, 22kDa
CCR6 chemokine (C-C motif) receptor 6
CDAN1 codanin 1
CDKL5 cyclin-dependent kinase-like 5
CECR1 cat eye syndrome chromosome region, candidate 1
CEP126 centrosomal protein 126kDa
CIRH1A cirrhosis, autosomal recessive 1A (cirhin)
CLDN1 claudin 1
COL3A1 collagen, type III, alpha 1
COX4I2 cytochrome c oxidase subunit IV isoform 2 (lung)
CPOX coproporphyrinogen oxidase
CTGF connective tissue growth factor
CYB5A cytochrome b5 type A (microsomal)
CYB5R3 cytochrome b5 reductase 3
CYBA cytochrome b-245, alpha polypeptide
CYBB cytochrome b-245, beta polypeptide
CYP7B1 cytochrome P450, family 7, subfamily B, polypeptide 1
DGUOK deoxyguanosine kinase
DNASE1L3 deoxyribonuclease I-like 3
DPAGT1 dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)
ENG endoglin
ETFA electron-transfer-flavoprotein, alpha polypeptide
ETFB electron-transfer-flavoprotein, beta polypeptide
ETFDH electron-transferring-flavoprotein dehydrogenase
FOXG1 forkhead box G1
FUCA1 fucosidase, alpha-L- 1, tissue
G6PD glucose-6-phosphate dehydrogenase
GALE UDP-galactose-4-epimerase
GALK1 galactokinase 1
GJA1 gap junction protein, alpha 1, 43kDa
GPI glucose-6-phosphate isomerase
HBA1 hemoglobin, alpha 1
HBB hemoglobin, beta
HBG2 hemoglobin, gamma G
HK1 hexokinase 1
HLA-DRB1 major histocompatibility complex, class II, DR beta 1
HSD3B7 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7
IKBKAP inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein
IRF5 interferon regulatory factor 5
JAG1 jagged 1
JAK2 Janus kinase 2
KIAA0319L KIAA0319-like
KRT18 keratin 18, type I
KRT8 keratin 8, type II
LBR lamin B receptor
LMNA lamin A/C
LPL lipoprotein lipase
LYST lysosomal trafficking regulator
MECP2 methyl CpG binding protein 2
MPV17 MpV17 mitochondrial inner membrane protein
MVK mevalonate kinase
NCF1 neutrophil cytosolic factor 1
NCF2 neutrophil cytosolic factor 2
NPC1 Niemann-Pick disease, type C1
NPC2 Niemann-Pick disease, type C2
NTNG1 netrin G1
OCLN occludin
PAX3 paired box 3
PCK1 phosphoenolpyruvate carboxykinase 1 (soluble)
PEPD peptidase D
PEX1 peroxisomal biogenesis factor 1
PEX5 peroxisomal biogenesis factor 5
PFKM phosphofructokinase, muscle
PIEZO1 piezo-type mechanosensitive ion channel component 1
PKLR pyruvate kinase, liver and RBC
POU1F1 POU class 1 homeobox 1
PRF1 perforin 1 (pore forming protein)
PRKAG2 protein kinase, AMP-activated, gamma 2 non-catalytic subunit
PROC protein C (inactivator of coagulation factors Va and VIIIa)
PROS1 protein S (alpha)
PTPN22 protein tyrosine phosphatase, non-receptor type 22 (lymphoid)
RHAG Rh-associated glycoprotein
RNU4ATAC RNA, U4atac small nuclear (U12-dependent splicing)
SCN2A sodium channel, voltage gated, type II alpha subunit
SDHB succinate dehydrogenase complex, subunit B, iron sulfur (Ip)
SDHC succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa
SDHD succinate dehydrogenase complex, subunit D, integral membrane protein
SEC23B Sec23 homolog B (S. cerevisiae)
SEPT9 septin 9
SFTPB surfactant protein B
SFTPC surfactant protein C
SH2B3 SH2B adaptor protein 3
SLC25A3 solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 3
SLC4A1 solute carrier family 4 (anion exchanger), member 1 (Diego blood group)
SLCO1B1 solute carrier organic anion transporter family, member 1B1
SLCO1B3 solute carrier organic anion transporter family, member 1B3
SMPD1 sphingomyelin phosphodiesterase 1, acid lysosomal
SPTB spectrin, beta, erythrocytic
TGFB1 transforming growth factor, beta 1
THPO thrombopoietin
TNXB tenascin XB
TPI1 triosephosphate isomerase 1
TREX1 three prime repair exonuclease 1
TRMU tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase
TTC37 tetratricopeptide repeat domain 37
UGT1A1 UDP glucuronosyltransferase 1 family, polypeptide A1
VHL von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase
VIPAS39 VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog
VPS33B vacuolar protein sorting 33 homolog B (yeast)
ZMPSTE24 zinc metallopeptidase STE24