abnormality of temperature regulation Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An abnormality of temperature homeostasis. (Human Phenotype Ontology, HP_0004370)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0004370
Similar Terms
Downloads & Tools

Genes

191 genes associated with the abnormality of temperature regulation phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ABCA12 ATP-binding cassette, sub-family A (ABC1), member 12
ABCC2 ATP-binding cassette, sub-family C (CFTR/MRP), member 2
ACADSB acyl-CoA dehydrogenase, short/branched chain
ADA adenosine deaminase
ADAMTS13 ADAM metallopeptidase with thrombospondin type 1 motif, 13
AK2 adenylate kinase 2
ALG11 ALG11, alpha-1,2-mannosyltransferase
ALPL alkaline phosphatase, liver/bone/kidney
AQP2 aquaporin 2 (collecting duct)
ASCL1 achaete-scute family bHLH transcription factor 1
ATP1A2 ATPase, Na+/K+ transporting, alpha 2 polypeptide
ATP7A ATPase, Cu++ transporting, alpha polypeptide
AVP arginine vasopressin
AVPR2 arginine vasopressin receptor 2
BCL2 B-cell CLL/lymphoma 2
BCL6 B-cell CLL/lymphoma 6
BDNF brain-derived neurotrophic factor
BIRC3 baculoviral IAP repeat containing 3
BLNK B-cell linker
BTK Bruton agammaglobulinemia tyrosine kinase
C4A complement component 4A (Rodgers blood group)
CACNA1A calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
CARD9 caspase recruitment domain family, member 9
CD27 CD27 molecule
CD79A CD79a molecule, immunoglobulin-associated alpha
CD79B CD79b molecule, immunoglobulin-associated beta
CECR1 cat eye syndrome chromosome region, candidate 1
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)
CLCF1 cardiotrophin-like cytokine factor 1
CLCN7 chloride channel, voltage-sensitive 7
CLEC7A C-type lectin domain family 7, member A
COL1A1 collagen, type I, alpha 1
COX1
COX2
COX3
CRLF1 cytokine receptor-like factor 1
CTLA4 cytotoxic T-lymphocyte-associated protein 4
CTNS cystinosin, lysosomal cystine transporter
CYBA cytochrome b-245, alpha polypeptide
CYBB cytochrome b-245, beta polypeptide
CYP11B2 cytochrome P450, family 11, subfamily B, polypeptide 2
CYP21A2 cytochrome P450, family 21, subfamily A, polypeptide 2
DBH dopamine beta-hydroxylase (dopamine beta-monooxygenase)
DCLRE1C DNA cross-link repair 1C
DDC dopa decarboxylase (aromatic L-amino acid decarboxylase)
DGUOK deoxyguanosine kinase
DIS3L2 DIS3 like 3'-5' exoribonuclease 2
DST dystonin
EDA ectodysplasin A
EDAR ectodysplasin A receptor
EDARADD EDAR-associated death domain
EDN3 endothelin 3
ELANE elastase, neutrophil expressed
F5 coagulation factor V (proaccelerin, labile factor)
FBP1 fructose-1,6-bisphosphatase 1
FOXP1 forkhead box P1
GAA glucosidase, alpha; acid
GALC galactosylceramidase
GATA2 GATA binding protein 2
GCDH glutaryl-CoA dehydrogenase
GCH1 GTP cyclohydrolase 1
GDNF glial cell derived neurotrophic factor
GLA galactosidase, alpha
H19 H19, imprinted maternally expressed transcript (non-protein coding)
HBB hemoglobin, beta
HEXB hexosaminidase B (beta polypeptide)
HLA-B major histocompatibility complex, class I, B
HLA-DPB1 major histocompatibility complex, class II, DP beta 1
HLA-DRB1 major histocompatibility complex, class II, DR beta 1
HMGCL 3-hydroxymethyl-3-methylglutaryl-CoA lyase
HSPG2 heparan sulfate proteoglycan 2
IGHM immunoglobulin heavy constant mu
IGLL1 immunoglobulin lambda-like polypeptide 1
IKBKAP inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein
IL10 interleukin 10
IL12B interleukin 12B
IL12RB2 interleukin 12 receptor, beta 2
IL17F interleukin 17F
IL17RA interleukin 17 receptor A
IL23R interleukin 23 receptor
IL2RG interleukin 2 receptor, gamma
IL36RN interleukin 36 receptor antagonist
IL6 interleukin 6
IL7R interleukin 7 receptor
IRF8 interferon regulatory factor 8
JAK2 Janus kinase 2
KCNJ1 potassium channel, inwardly rectifying subfamily J, member 1
KRT14 keratin 14, type I
KRT18 keratin 18, type I
KRT8 keratin 8, type II
LBR lamin B receptor
LIFR leukemia inhibitory factor receptor alpha
LIG4 ligase IV, DNA, ATP-dependent
LIPA lipase A, lysosomal acid, cholesterol esterase
LPIN1 lipin 1
LPIN2 lipin 2
LRRC8A leucine rich repeat containing 8 family, member A
LYST lysosomal trafficking regulator
MALT1 MALT1 paracaspase
MEFV Mediterranean fever
MIF macrophage migration inhibitory factor (glycosylation-inhibiting factor)
MLX MLX, MAX dimerization protein
MT-ND4 NADH dehydrogenase, subunit 4 (complex I)
MT-ND5 NADH dehydrogenase, subunit 5 (complex I)
MT-ND6 NADH dehydrogenase, subunit 6 (complex I)
MT-TF tRNA
MT-TH tRNA
MT-TL1 tRNA
MT-TQ tRNA
MT-TS1 tRNA
MT-TS2 tRNA
MT-TW tRNA
MVK mevalonate kinase
MYD88 myeloid differentiation primary response 88
MYH3 myosin, heavy chain 3, skeletal muscle, embryonic
NCF1 neutrophil cytosolic factor 1
NCF2 neutrophil cytosolic factor 2
NCF4 neutrophil cytosolic factor 4, 40kDa
ND1
NDN necdin, melanoma antigen (MAGE) family member
NFKBIA nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha
NGF nerve growth factor (beta polypeptide)
NLRP12 NLR family, pyrin domain containing 12
NLRP3 NLR family, pyrin domain containing 3
NME1 NME/NM23 nucleoside diphosphate kinase 1
NOD2 nucleotide-binding oligomerization domain containing 2
NOTCH3 notch 3
NTRK1 neurotrophic tyrosine kinase, receptor, type 1
ORAI1 ORAI calcium release-activated calcium modulator 1
PAX8 paired box 8
PHOX2B paired-like homeobox 2b
PIK3R1 phosphoinositide-3-kinase, regulatory subunit 1 (alpha)
POU6F2 POU class 6 homeobox 2
PRKAR1A protein kinase, cAMP-dependent, regulatory, type I, alpha
PRNP prion protein
PRSS1 protease, serine, 1 (trypsin 1)
PRTN3 proteinase 3
PSMB8 proteasome (prosome, macropain) subunit, beta type, 8
PSTPIP1 proline-serine-threonine phosphatase interacting protein 1
PTPN22 protein tyrosine phosphatase, non-receptor type 22 (lymphoid)
PTPN3 protein tyrosine phosphatase, non-receptor type 3
PTS 6-pyruvoyltetrahydropterin synthase
QDPR quinoid dihydropteridine reductase
RAB27A RAB27A, member RAS oncogene family
RAG1 recombination activating gene 1
RAG2 recombination activating gene 2
RAPSN receptor-associated protein of the synapse
RET ret proto-oncogene
RMRP RNA component of mitochondrial RNA processing endoribonuclease
RYR1 ryanodine receptor 1 (skeletal)
SCN4A sodium channel, voltage gated, type IV alpha subunit
SCN9A sodium channel, voltage gated, type IX alpha subunit
SHANK3 SH3 and multiple ankyrin repeat domains 3
SLC12A1 solute carrier family 12 (sodium/potassium/chloride transporter), member 1
SLC19A3 solute carrier family 19 (thiamine transporter), member 3
SLC29A3 solute carrier family 29 (equilibrative nucleoside transporter), member 3
SLCO1B1 solute carrier organic anion transporter family, member 1B1
SLCO1B3 solute carrier organic anion transporter family, member 1B3
SNRPN small nuclear ribonucleoprotein polypeptide N
SNX10 sorting nexin 10
SPINK1 serine peptidase inhibitor, Kazal type 1
STAC3 SH3 and cysteine rich domain 3
STAT1 signal transducer and activator of transcription 1, 91kDa
STAT3 signal transducer and activator of transcription 3 (acute-phase response factor)
STAT4 signal transducer and activator of transcription 4
STIM1 stromal interaction molecule 1
STX11 syntaxin 11
STXBP2 syntaxin binding protein 2
TCF3 transcription factor 3
TCIRG1 T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3
TLR4 toll-like receptor 4
TMEM165 transmembrane protein 165
TMEM173 transmembrane protein 173
TNFRSF1A tumor necrosis factor receptor superfamily, member 1A
TNFSF11 tumor necrosis factor (ligand) superfamily, member 11
TRAF3IP2 TRAF3 interacting protein 2
TRAF6 TNF receptor-associated factor 6, E3 ubiquitin protein ligase
TREX1 three prime repair exonuclease 1
TSC1 tuberous sclerosis 1
TSC2 tuberous sclerosis 2
TSPYL1 TSPY-like 1
UNC13D unc-13 homolog D (C. elegans)
VIPAS39 VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog
VPS33B vacuolar protein sorting 33 homolog B (yeast)
WAS Wiskott-Aldrich syndrome
WIPF1 WAS/WASL interacting protein family, member 1
WT1 Wilms tumor 1
XIAP X-linked inhibitor of apoptosis, E3 ubiquitin protein ligase