Incontinentia Pigmenti Achromians Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
External Link https://www.disgenet.org/browser/0/1/0/C0022283
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Genes

63 genes associated with the disease Incontinentia Pigmenti Achromians in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ACACA acetyl-CoA carboxylase alpha
ADAMTS13 ADAM metallopeptidase with thrombospondin type 1 motif, 13
AHSA1 AHA1, activator of heat shock 90kDa protein ATPase homolog 1 (yeast)
AIMP2 aminoacyl tRNA synthetase complex-interacting multifunctional protein 2
AKT3 v-akt murine thymoma viral oncogene homolog 3
AR androgen receptor
ARNTL2 aryl hydrocarbon receptor nuclear translocator-like 2
ASIP agouti signaling protein
BAP1 BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)
BMS1 BMS1 ribosome biogenesis factor
BTBD8 BTB (POZ) domain containing 8
CCL2 chemokine (C-C motif) ligand 2
CCR2 chemokine (C-C motif) receptor 2
CD38 CD38 molecule
CEL carboxyl ester lipase
CHIA chitinase, acidic
CHIT1 chitinase 1 (chitotriosidase)
CLEC7A C-type lectin domain family 7, member A
COL5A1 collagen, type V, alpha 1
COLEC11 collectin sub-family member 11
CRK v-crk avian sarcoma virus CT10 oncogene homolog
CRP C-reactive protein, pentraxin-related
CXCL8 chemokine (C-X-C motif) ligand 8
CYP51A1 cytochrome P450, family 51, subfamily A, polypeptide 1
EOMES eomesodermin
ESRRB estrogen-related receptor beta
FLNC filamin C, gamma
GRAP2 GRB2-related adaptor protein 2
IFNG interferon, gamma
IL10 interleukin 10
IL1A interleukin 1, alpha
IL1B interleukin 1, beta
IL1R1 interleukin 1 receptor, type I
IL1RN interleukin 1 receptor antagonist
IL4 interleukin 4
IL6 interleukin 6
KRT14 keratin 14, type I
LTA lymphotoxin alpha
MAPK1 mitogen-activated protein kinase 1
MAPK14 mitogen-activated protein kinase 14
MASP1 mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)
MITF microphthalmia-associated transcription factor
MPG N-methylpurine-DNA glycosylase
MPV17 MpV17 mitochondrial inner membrane protein
MTOR mechanistic target of rapamycin (serine/threonine kinase)
NME1 NME/NM23 nucleoside diphosphate kinase 1
PADI4 peptidyl arginine deiminase, type IV
PARP9 poly (ADP-ribose) polymerase family, member 9
POLDIP2 polymerase (DNA-directed), delta interacting protein 2
PTX3 pentraxin 3, long
RNF19A ring finger protein 19A, RBR E3 ubiquitin protein ligase
RPS6 ribosomal protein S6
SFTPD surfactant protein D
SLC27A5 solute carrier family 27 (fatty acid transporter), member 5
SMUG1 single-strand-selective monofunctional uracil-DNA glycosylase 1
STAT3 signal transducer and activator of transcription 3 (acute-phase response factor)
TBX21 T-box 21
TLR2 toll-like receptor 2
TNF tumor necrosis factor
TNFRSF1A tumor necrosis factor receptor superfamily, member 1A
TNFRSF1B tumor necrosis factor receptor superfamily, member 1B
TRERF1 transcriptional regulating factor 1
WDHD1 WD repeat and HMG-box DNA binding protein 1