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ACVRL1
: activin A receptor type II-like 1
ADA
: adenosine deaminase
ADAMTS13
: ADAM metallopeptidase with thrombospondin type 1 motif, 13
ALAS2
: aminolevulinate, delta-, synthase 2
ANG
: angiogenin, ribonuclease, RNase A family, 5
APC
: adenomatous polyposis coli
APOE
: apolipoprotein E
APTX
: aprataxin
ATG16L1
: ATG16 autophagy related 16-like 1 (S. cerevisiae)
ATM
: ataxia telangiectasia mutated
ATRX
: alpha thalassemia/mental retardation syndrome X-linked (RAD54 homolog, S. cerevisiae)
BARD1
: BRCA1 associated RING domain 1
BLM
: Bloom syndrome, RecQ helicase-like
BRCA1
: breast cancer 1, early onset
BRCA2
: breast cancer 2, early onset
BRIP1
: BRCA1 interacting protein C-terminal helicase 1
CCM2
: cerebral cavernous malformation 2
CD40LG
: CD40 ligand
CHEK2
: CHK2 checkpoint homolog (S. pombe)
CHRNA4
: cholinergic receptor, nicotinic, alpha 4
CHRNB2
: cholinergic receptor, nicotinic, beta 2 (neuronal)
CLN3
: ceroid-lipofuscinosis, neuronal 3
COL3A1
: collagen, type III, alpha 1
COL5A1
: collagen, type V, alpha 1
CREBBP
: CREB binding protein
EIF2B1
: eukaryotic translation initiation factor 2B, subunit 1 alpha, 26kDa
EIF2B2
: eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa
EIF2B3
: eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa
EIF2B4
: eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa
EIF2B5
: eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa
EP300
: E1A binding protein p300
ERAP1
: endoplasmic reticulum aminopeptidase 1
ERBB2
: v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)
ERCC6
: excision repair cross-complementing rodent repair deficiency, complementation group 6
ERCC8
: excision repair cross-complementing rodent repair deficiency, complementation group 8
EYA1
: eyes absent homolog 1 (Drosophila)
F12
: coagulation factor XII (Hageman factor)
F2
: coagulation factor II (thrombin)
F5
: coagulation factor V (proaccelerin, labile factor)
F8
: coagulation factor VIII, procoagulant component
F9
: coagulation factor IX
G6PD
: glucose-6-phosphate dehydrogenase
GCH1
: GTP cyclohydrolase 1
GSS
: glutathione synthetase
HSPB1
: heat shock 27kDa protein 1
IL1A
: interleukin 1, alpha
LYST
: lysosomal trafficking regulator
MEFV
: Mediterranean fever
MEN1
: multiple endocrine neoplasia I
MLH1
: mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)
MSH2
: mutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli)
MSH6
: mutS homolog 6 (E. coli)
MUTYH
: mutY homolog (E. coli)
MYO6
: myosin VI
NBN
: nibrin
NCF1
: neutrophil cytosolic factor 1
NF1
: neurofibromin 1
NLRP12
: NLR family, pyrin domain containing 12
NLRP3
: NLR family, pyrin domain containing 3
NOD2
: nucleotide-binding oligomerization domain containing 2
PCSK9
: proprotein convertase subtilisin/kexin type 9
PINK1
: PTEN induced putative kinase 1
PLOD1
: procollagen-lysine 1, 2-oxoglutarate 5-dioxygenase 1
PMS2
: PMS2 postmeiotic segregation increased 2 (S. cerevisiae)
PRNP
: prion protein
PROC
: protein C (inactivator of coagulation factors Va and VIIIa)
PROK2
: prokineticin 2
PROS1
: protein S (alpha)
RAD50
: RAD50 homolog (S. cerevisiae)
RAD51
: RAD51 homolog (RecA homolog, E. coli) (S. cerevisiae)
RECQL4
: RecQ protein-like 4
RYR1
: ryanodine receptor 1 (skeletal)
SAA1
: serum amyloid A1
SERPING1
: serpin peptidase inhibitor, clade G (C1 inhibitor), member 1
SETX
: senataxin
SMAD4
: SMAD family member 4
SMC1A
: structural maintenance of chromosomes 1A
SNCA
: synuclein, alpha (non A4 component of amyloid precursor)
SOD1
: superoxide dismutase 1, soluble
TGFB1
: transforming growth factor, beta 1
TH
: tyrosine hydroxylase
TOR1A
: torsin family 1, member A (torsin A)
TP53
: tumor protein p53
TYROBP
: TYRO protein tyrosine kinase binding protein
VAPB
: VAMP (vesicle-associated membrane protein)-associated protein B and C
VCP
: valosin-containing protein
VHL
: von Hippel-Lindau tumor suppressor
VWF
: von Willebrand factor
WAS
: Wiskott-Aldrich syndrome (eczema-thrombocytopenia)
WFS1
: Wolfram syndrome 1 (wolframin)
WRN
: Werner syndrome, RecQ helicase-like
Source:
Gene Ontology
Consortium
(June 2009).
Published: November 20, 2009