Immunologic Deficiency Syndromes Gene Set

Dataset CTD Gene-Disease Associations
Category disease or phenotype associations
Type disease
External Link http://ctdbase.org/detail.go?type=disease&acc=MESH:D007153
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Genes

65 genes/proteins associated with the disease Immunologic Deficiency Syndromes from the curated CTD Gene-Disease Associations dataset.

Symbol Name Standardized Value
C8B complement component 8, beta polypeptide 2.88009
ZAP70 zeta-chain (TCR) associated protein kinase 70kDa 2.88009
DNMT3B DNA (cytosine-5-)-methyltransferase 3 beta 2.88009
FCN3 ficolin (collagen/fibrinogen domain containing) 3 2.88009
C4A complement component 4A (Rodgers blood group) 2.88009
LEPR leptin receptor 2.88009
C1QB complement component 1, q subcomponent, B chain 2.88009
CD36 CD36 molecule (thrombospondin receptor) 2.88009
CD3E CD3e molecule, epsilon (CD3-TCR complex) 2.88009
CACNA1C calcium channel, voltage-dependent, L type, alpha 1C subunit 2.88009
C9 complement component 9 2.88009
C3 complement component 3 2.88009
CFH complement factor H 2.88009
CFD complement factor D (adipsin) 2.88009
C5 complement component 5 2.88009
C8A complement component 8, alpha polypeptide 2.88009
EPG5 ectopic P-granules autophagy protein 5 homolog (C. elegans) 2.88009
AKR1C1 aldo-keto reductase family 1, member C1 1.51607
TIMP1 TIMP metallopeptidase inhibitor 1 1.48864
CYP1A2 cytochrome P450, family 1, subfamily A, polypeptide 2 1.44219
IER3 immediate early response 3 1.43673
CYP1B1 cytochrome P450, family 1, subfamily B, polypeptide 1 1.37217
ESR1 estrogen receptor 1 1.35502
RHOC ras homolog family member C 1.35242
NDC80 NDC80 kinetochore complex component 1.31956
PAH phenylalanine hydroxylase 1.3103
NQO1 NAD(P)H dehydrogenase, quinone 1 1.29936
CYP1A1 cytochrome P450, family 1, subfamily A, polypeptide 1 1.23265
PFKFB1 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 1.21791
LGALS1 lectin, galactoside-binding, soluble, 1 1.20229
AR androgen receptor 1.16933
FREM1 FRAS1 related extracellular matrix 1 1.16269
CA3 carbonic anhydrase III 1.15967
AHR aryl hydrocarbon receptor 1.15055
EPHX1 epoxide hydrolase 1, microsomal (xenobiotic) 1.13929
ITGA2 integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor) 1.13586
AREG amphiregulin 1.11945
NUPR1 nuclear protein, transcriptional regulator, 1 1.11809
ERBB2 erb-b2 receptor tyrosine kinase 2 1.11255
UGT1A6 UDP glucuronosyltransferase 1 family, polypeptide A6 1.10424
ZNF132 zinc finger protein 132 1.1014
SPTBN2 spectrin, beta, non-erythrocytic 2 1.1014
MOXD1 monooxygenase, DBH-like 1 1.09401
CLDN17 claudin 17 1.08868
CYP2E1 cytochrome P450, family 2, subfamily E, polypeptide 1 1.07696
CXCL8 chemokine (C-X-C motif) ligand 8 1.0766
COL4A6 collagen, type IV, alpha 6 1.07518
SEMA6A sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A 1.06771
CELSR2 cadherin, EGF LAG seven-pass G-type receptor 2 1.06515
TLN2 talin 2 1.06044
GSTM1 glutathione S-transferase mu 1 1.05648
VLDLR very low density lipoprotein receptor 1.05274
GCK glucokinase (hexokinase 4) 1.04904
NFKBIA nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha 1.04314
IL6 interleukin 6 1.03715
GABRD gamma-aminobutyric acid (GABA) A receptor, delta 1.03604
CD53 CD53 molecule 1.02746
CAT catalase 1.0241
CYB5A cytochrome b5 type A (microsomal) 1.02188
VAV3 vav 3 guanine nucleotide exchange factor 1.01776
SLCO3A1 solute carrier organic anion transporter family, member 3A1 1.01549
CD48 CD48 molecule 1.01549
JUN jun proto-oncogene 1.01474
VAT1 vesicle amine transport 1 1.01324
INMT indolethylamine N-methyltransferase 1.01137