STAT1 (signal transducer and activator of transcription 1) - Rat Genome Database

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Gene: STAT1 (signal transducer and activator of transcription 1) Homo sapiens
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Symbol: STAT1
Name: signal transducer and activator of transcription 1
RGD ID: 732184
HGNC Page HGNC:11362
Description: Enables several functions, including RNA polymerase II transcription regulatory region sequence-specific DNA binding activity; enzyme binding activity; and transcription coregulator binding activity. Involved in several processes, including cellular response to cytokine stimulus; negative regulation by virus of viral protein levels in host cell; and positive regulation of macromolecule biosynthetic process. Located in several cellular components, including chromatin; nuclear lumen; and perinuclear region of cytoplasm. Part of ISGF3 complex. Is active in nucleus. Implicated in adenocarcinoma (multiple); breast carcinoma; immunodeficiency 31A; immunodeficiency 31B; and immunodeficiency 31C. Biomarker of several diseases, including angiomyolipoma; gastric adenocarcinoma; hepatitis C; lymphangioleiomyomatosis; and nephroblastoma.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: CANDF7; DKFZp686B04100; IMD31A; IMD31B; IMD31C; ISGF-3; signal transducer and activator of transcription 1, 91kD; signal transducer and activator of transcription 1, 91kDa; signal transducer and activator of transcription 1-alpha/beta; signal transducer and activator of transcription-1; STAT91; transcription factor ISGF-3 components p91/p84
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Candidate Gene For: BMD6_H
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
NCBI Annotation Information: Note: This gene has been reviewed for its involvement in coronavirus biology, and is involved in immune response or antiviral activity.
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382190,969,149 - 191,014,171 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2190,908,460 - 191,020,960 (-)EnsemblGRCh38hg38GRCh38
GRCh372191,833,875 - 191,878,897 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362191,542,121 - 191,587,181 (-)NCBINCBI36Build 36hg18NCBI36
Build 342191,665,769 - 191,704,442NCBI
Celera2185,428,361 - 185,473,577 (-)NCBICelera
Cytogenetic Map2q32.2NCBI
HuRef2183,693,413 - 183,738,626 (-)NCBIHuRef
CHM1_12191,839,599 - 191,884,801 (-)NCBICHM1_1
T2T-CHM13v2.02191,458,256 - 191,503,284 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View
angiomyolipoma  (IEP)
Brain Injuries  (ISO)
breast cancer  (IEP,ISS)
breast carcinoma  (IDA)
bronchiectasis  (IAGP)
chronic mucocutaneous candidiasis  (EXP,IAGP)
Cognitive Dysfunction  (IAGP)
colon adenocarcinoma  (IAGP)
combined immunodeficiency  (IAGP)
combined T cell and B cell immunodeficiency  (IAGP)
COVID-19  (HEP)
Cytomegalovirus Infections  (EXP)
Diarrhea 9  (IAGP)
disease by infectious agent  (IAGP)
Disease Progression  (EXP)
Dwarfism  (IAGP)
Experimental Arthritis  (EXP,ISO)
Experimental Autoimmune Encephalomyelitis  (ISO)
Experimental Diabetes Mellitus  (ISO)
Experimental Mammary Neoplasms  (ISO)
Failure to Thrive  (IAGP)
gastric adenocarcinoma  (IEP)
genetic disease  (IAGP)
Hearing Loss  (EXP)
hepatitis C  (IEP)
hepatocellular carcinoma  (EXP)
Human Influenza  (EXP)
hypothyroidism  (IAGP)
immunodeficiency 31A  (IAGP)
immunodeficiency 31B  (IAGP)
immunodeficiency 31C  (IAGP)
Liver Abscess  (IAGP)
liver cirrhosis  (EXP)
lupus nephritis  (EXP)
lymphangioleiomyomatosis  (IEP)
lymphocytic choriomeningitis  (ISO)
Mycobacterium Infections  (EXP)
Myocardial Reperfusion Injury  (ISO)
Neoplasm Metastasis  (EXP)
nephroblastoma  (IEP)
Nervous System Trauma  (ISO)
Neurodevelopmental Disorders  (IAGP)
Nontuberculous Mycobacterium Infections  (IAGP)
pancreatic adenocarcinoma  (HEP)
periodontitis  (ISO)
primary immunodeficiency disease  (IAGP)
prostate adenocarcinoma  (IDA)
pulmonary fibrosis  (ISO)
Reoviridae Infections  (ISO)
Reperfusion Injury  (ISO)
rheumatoid arthritis  (EXP)
scrapie  (ISO)
Sepsis  (ISO)
severe acute respiratory syndrome  (ISS)
T-cell acute lymphoblastic leukemia  (EXP)

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-alpha-viniferin  (ISO)
(+)-catechin  (EXP)
(+)-schisandrin B  (ISO)
(+)-taxifolin  (EXP)
(-)-alpha-phellandrene  (EXP)
(-)-Arctigenin  (EXP,ISO)
(-)-epigallocatechin 3-gallate  (EXP)
(1->4)-beta-D-glucan  (ISO)
(R)-lipoic acid  (EXP)
(S)-colchicine  (EXP)
(S)-naringenin  (EXP)
(S)-nicotine  (EXP)
1,2-dimethylhydrazine  (ISO)
1,4-benzoquinone  (EXP)
1-(5-isoquinolinesulfonyl)-2-methylpiperazine  (EXP)
1-chloro-2,4-dinitrobenzene  (EXP)
1-naphthyl isothiocyanate  (EXP)
15-deoxy-Delta(12,14)-prostaglandin J2  (EXP,ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
17beta-estradiol 3-benzoate  (ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (EXP,ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,4,6-tribromophenol  (EXP)
2,4,6-trinitrobenzenesulfonic acid  (ISO)
2,4-dinitrotoluene  (ISO)
2,6-dichloroindophenol  (EXP)
2-amino-2-deoxy-D-glucopyranose  (EXP)
2-butan-2-yl-4-[4-[4-[4-[[2-(2,4-dichlorophenyl)-2-(1,2,4-triazol-1-ylmethyl)-1,3-dioxolan-4-yl]methoxy]phenyl]-1-piperazinyl]phenyl]-1,2,4-triazol-3-one  (EXP)
2-nitrofluorene  (ISO)
2-trans,6-trans,10-trans-geranylgeranyl diphosphate  (ISO)
22-Hydroxycholesterol  (EXP)
3,3',4,4',5-pentachlorobiphenyl  (EXP)
3,3',5,5'-tetrabromobisphenol A  (ISO)
3,3',5-triiodo-L-thyronine  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
3-Nitrobenzanthrone  (EXP)
3H-1,2-dithiole-3-thione  (ISO)
4-(ethoxymethylene)-2-phenyloxazol-5-one  (EXP,ISO)
4-(N-nitrosomethylamino)-1-(3-pyridyl)butan-1-one  (EXP)
4-\{[(5,5,8,8-tetramethyl-5,6,7,8-tetrahydronaphthalen-2-yl)carbonyl]amino\}benzoic acid  (EXP)
4-hydroxynon-2-enal  (ISO)
4-hydroxyphenyl retinamide  (ISO)
4-tert-Octylphenol  (ISO)
5,6,7-trimethoxyflavone  (ISO)
5-(2-methylpiperazine-1-sulfonyl)isoquinoline  (EXP)
5-aza-2'-deoxycytidine  (EXP,ISO)
5-fluorouracil  (EXP)
6-propyl-2-thiouracil  (ISO)
6alpha-methylprednisolone  (EXP)
9-cis-retinoic acid  (EXP)
acetamide  (ISO)
aconitine  (ISO)
acrolein  (EXP)
acrylamide  (ISO)
actinomycin D  (EXP)
afimoxifene  (EXP)
aflatoxin B1  (EXP,ISO)
aldehydo-D-glucosamine  (EXP)
aldehydo-D-glucose  (ISO)
all-trans-retinoic acid  (EXP)
allopurinol  (EXP)
alpha-phellandrene  (EXP)
alpha-pinene  (EXP)
aluminium atom  (ISO)
aluminium(0)  (ISO)
amantadine  (EXP)
aminoguanidine  (EXP)
amiodarone  (EXP)
ammonium chloride  (ISO)
amorolfine  (EXP)
anthra[1,9-cd]pyrazol-6(2H)-one  (EXP)
antigen  (ISO)
antimonite  (EXP)
antirheumatic drug  (EXP)
apocynin  (EXP,ISO)
aristolochic acid A  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
arsenite(3-)  (EXP,ISO)
arsenous acid  (EXP,ISO)
azathioprine  (EXP)
baricitinib  (ISO)
benzene  (ISO)
benzo[a]pyrene  (EXP,ISO)
beta-D-glucosamine  (EXP)
beta-lapachone  (EXP)
bis(2-chloroethyl) sulfide  (ISO)
bisphenol A  (EXP,ISO)
Bisphenol B  (EXP)
bisphenol F  (EXP)
buspirone  (ISO)
busulfan  (EXP)
butenafine  (EXP)
cadmium atom  (EXP,ISO)
cadmium dichloride  (EXP,ISO)
caffeine  (EXP)
calcium atom  (EXP)
calcium(0)  (EXP)
cannabidiol  (EXP,ISO)
Cannabinol  (ISO)
capsaicin  (ISO)
capsazepine  (ISO)
carbamazepine  (EXP)
CARBENOXOLONE  (EXP)
carbon nanotube  (ISO)
carvedilol  (ISO)
cerium  (EXP)
chlorophyllin  (EXP)
chloroprene  (ISO)
chlorpyrifos  (ISO)
cholesterol  (ISO)
choline  (ISO)
chromium(6+)  (EXP,ISO)
ciguatoxin CTX1B  (ISO)
Cirsimarin  (ISO)
cisplatin  (EXP,ISO)
coniferyl aldehyde  (EXP,ISO)
copper atom  (EXP)
copper(0)  (EXP)
copper(II) chloride  (EXP)
copper(II) sulfate  (EXP)
cordycepin  (EXP)
coumarin  (EXP)
Cuprizon  (ISO)
curcumin  (EXP,ISO)
cyclophosphamide  (ISO)
cyclosporin A  (EXP,ISO)
cyhalothrin  (ISO)
cytochalasin D  (EXP)
D-glucose  (ISO)
daidzein  (ISO)
DDT  (EXP)
deoxynivalenol  (ISO)
dexamethasone  (EXP,ISO)
dextran sulfate  (ISO)
diarsenic trioxide  (EXP,ISO)
Dibutyl phosphate  (EXP)
diclofenac  (EXP,ISO)
dieldrin  (ISO)
diethyl malate  (ISO)
diethyl maleate  (ISO)
diethylstilbestrol  (EXP,ISO)
dimemorfan  (ISO)
dimethylarsinous acid  (EXP)
dinitrogen oxide  (EXP)
dioxygen  (ISO)
dipotassium bis[mu-tartrato(4-)]diantimonate(2-) trihydrate  (EXP)
diuron  (ISO)
divanadium pentaoxide  (EXP)
dorsomorphin  (EXP)
doxorubicin  (EXP,ISO)
endosulfan  (ISO)
ethanol  (ISO)
ethyl methanesulfonate  (EXP)
etoposide  (EXP)
eugenol  (EXP)
fingolimod hydrochloride  (ISO)
flavonoids  (EXP)
flutamide  (ISO)
folic acid  (ISO)
formaldehyde  (EXP)
FR900359  (EXP)
fructose  (ISO)
fulvestrant  (EXP)
genistein  (EXP,ISO)
gentamycin  (ISO)
geraniol  (EXP)
glucose  (ISO)
glutathione  (EXP,ISO)
glyphosate  (ISO)
gold atom  (ISO)
gold(0)  (ISO)
herbimycin  (ISO)
hesperetin  (ISO)
hexachlorobenzene  (ISO)
hydrazine  (ISO)
hydrogen peroxide  (EXP,ISO)
hydroquinone  (EXP)
ICI D1694  (EXP)
indometacin  (EXP)
Interferon beta-1b  (EXP)
iopamidol  (EXP)
irinotecan  (EXP)
iron(2+) sulfate (anhydrous)  (ISO)
isoprenaline  (ISO)
itraconazole  (EXP)
ivermectin  (EXP)
kaempferol  (ISO)
ketoconazole  (EXP,ISO)
L-arginine  (ISO)
L-ascorbic acid  (EXP)
L-methionine  (ISO)
Lasiocarpine  (EXP)
lead diacetate  (ISO)
lead(0)  (EXP,ISO)
lipoic acid  (EXP)
lipopolysaccharide  (EXP,ISO)
Luliconazole  (EXP)
lycorine  (ISO)
Mecamylamine  (EXP)
melatonin  (ISO)
mercury dichloride  (EXP)
metam  (ISO)
methotrexate  (EXP)
methylmercury chloride  (EXP)
methylphenidate  (ISO)
Methylthiouracil  (EXP)
mevalonic acid  (EXP,ISO)
monocrotaline  (EXP)
N'-Nitrosonornicotine  (EXP)
N,N,N',N'-tetrakis(2-pyridylmethyl)ethylenediamine  (EXP)
N-acetyl-L-cysteine  (EXP,ISO)
N-benzyloxycarbonyl-L-leucyl-L-leucyl-L-leucinal  (EXP)
N-ethyl-N-nitrosourea  (ISO)
N-nitrosodiethylamine  (ISO)
N-nitrosodimethylamine  (ISO)
nickel atom  (EXP)
nickel dichloride  (ISO)
nickel sulfate  (EXP,ISO)
nicotine  (EXP)
nitric oxide  (ISO)
nitrofurantoin  (EXP)
NORCANTHARIDIN  (ISO)
o-anisidine  (EXP)
ochratoxin A  (ISO)
okadaic acid  (ISO)
oridonin  (EXP)
oroxylin A  (ISO)
ozone  (EXP,ISO)
p-tert-Amylphenol  (ISO)
paracetamol  (EXP,ISO)
paraquat  (EXP,ISO)
pentachlorophenol  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (EXP)
PF-956980  (EXP)
phenethyl isothiocyanate  (EXP,ISO)
phenobarbital  (ISO)
phenylarsine oxide  (EXP)
phenylephrine  (ISO)
phenylmercury acetate  (EXP)
PhIP  (ISO)
phosphatidic acid  (ISO)
pipoxolan  (ISO)
pirinixic acid  (ISO)
pitavastatin  (ISO)
pitavastatin(1-)  (ISO)
platycodin D  (EXP)
poly(I:C)  (EXP,ISO)
potassium chromate  (EXP)
potassium dichromate  (EXP)
pravastatin  (ISO)
protein kinase inhibitor  (EXP)
quercetin  (EXP,ISO)
raloxifene  (EXP)
resiniferatoxin  (ISO)
resveratrol  (EXP,ISO)
riddelliine  (EXP)
Ro 41-5253  (EXP)
rotenone  (EXP,ISO)
ruxolitinib  (EXP)
S-(1,2-dichlorovinyl)-L-cysteine  (EXP)
Salinomycin  (EXP)
SB 203580  (EXP)
SB 431542  (EXP)
sevoflurane  (ISO)
silicon dioxide  (ISO)
simvastatin  (EXP,ISO)
sodium arsenite  (EXP,ISO)
sodium aurothiomalate  (EXP)
Soman  (ISO)
stattic  (ISO)
sulfates  (EXP)
T-2 toxin  (ISO)
tamibarotene  (EXP)
tamoxifen  (EXP,ISO)
taurocholic acid  (ISO)
temozolomide  (EXP)
terbinafine  (EXP)
tert-butyl hydroperoxide  (EXP,ISO)
testosterone  (ISO)
testosterone enanthate  (EXP)
tetrachloromethane  (ISO)
tetrahydropalmatine  (EXP)
thioacetamide  (ISO)
thiophenes  (EXP)
thiram  (EXP)
titanium dioxide  (ISO)
tofacitinib  (EXP,ISO)
Trachelogenin  (EXP)
Triptolide  (ISO)
triptonide  (ISO)
troglitazone  (ISO)
ursodeoxycholic acid  (EXP)
valsartan  (EXP)
vancomycin  (ISO)
verteporfin  (ISO)
vincaleukoblastine  (EXP)
vinclozolin  (ISO)
vincristine  (EXP)
vinyl carbamate  (ISO)
vitamin E  (EXP)
withaferin A  (ISO)
zidovudine  (EXP)
zinc atom  (EXP,ISO)
zinc oxide  (EXP)
zinc protoporphyrin  (EXP)
zinc sulfate  (EXP)
zinc(0)  (EXP,ISO)
zoledronic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
blood circulation  (IEA,ISO,ISS)
cell population proliferation  (ISO)
cell surface receptor signaling pathway via JAK-STAT  (IBA,IDA,IEA,ISO,NAS)
cellular response to cytokine stimulus  (IEA,ISO)
cellular response to insulin stimulus  (IEA,ISO)
cellular response to interferon-beta  (IDA,IMP)
cellular response to lipopolysaccharide  (ISO)
cellular response to organic cyclic compound  (IEA,ISO)
cellular response to type II interferon  (IDA)
cytokine-mediated signaling pathway  (IEA,ISO)
defense response  (IBA)
defense response to virus  (IDA,IEA)
DNA-templated transcription  (ISO)
endothelial cell migration  (IMP)
interleukin-27-mediated signaling pathway  (IDA)
interleukin-7-mediated signaling pathway  (IDA)
interleukin-9-mediated signaling pathway  (IDA)
lipopolysaccharide-mediated signaling pathway  (ISO)
metanephric mesenchymal cell differentiation  (ISS)
metanephric mesenchymal cell proliferation involved in metanephros development  (ISS)
negative regulation by virus of viral protein levels in host cell  (IMP)
negative regulation of angiogenesis  (IMP)
negative regulation of canonical NF-kappaB signal transduction  (IMP)
negative regulation of endothelial cell proliferation  (IMP)
negative regulation of macrophage fusion  (ISO)
negative regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis  (ISS)
negative regulation of metanephric nephron tubule epithelial cell differentiation  (ISS)
negative regulation of transcription by RNA polymerase II  (ISS)
obsolete positive regulation of nitric-oxide synthase biosynthetic process  (IEA)
positive regulation of apoptotic process  (ISO)
positive regulation of cell population proliferation  (IEA,ISO)
positive regulation of defense response to virus by host  (IGI,IMP)
positive regulation of DNA-templated transcription  (IDA,IGI,IMP)
positive regulation of erythrocyte differentiation  (IMP)
positive regulation of interferon-alpha production  (IDA)
positive regulation of mesenchymal cell proliferation  (ISS)
positive regulation of nitric oxide biosynthetic process  (ISO)
positive regulation of smooth muscle cell proliferation  (IEA,ISO,ISS)
positive regulation of transcription by RNA polymerase II  (IDA,IMP,NAS)
regulation of apoptotic process  (TAS)
regulation of cell population proliferation  (IBA)
regulation of DNA-templated transcription  (IEA)
regulation of transcription by RNA polymerase II  (IBA,IDA)
renal tubule development  (IMP)
response to bacterium  (ISO)
response to cAMP  (IEA,ISO,ISS)
response to cytokine  (IEA,ISO,ISS)
response to exogenous dsRNA  (ISO)
response to hydrogen peroxide  (IEA,ISO)
response to interferon-beta  (IMP)
response to lipopolysaccharide  (ISO)
response to mechanical stimulus  (IEA,ISO)
response to nutrient  (IEA,ISO)
response to organic cyclic compound  (IEA,ISO)
response to peptide hormone  (IBA,IEA,ISO,ISS)
response to type I interferon  (ISO)
response to type II interferon  (IDA)
response to xenobiotic stimulus  (IEA,ISO)
signal transduction  (IEA)
tumor necrosis factor-mediated signaling pathway  (IDA)
type I interferon-mediated signaling pathway  (IBA,IDA,ISS)
type II interferon-mediated signaling pathway  (IDA,IMP,ISS)

Cellular Component
axon  (IEA,ISO,ISS)
chromatin  (IDA,ISA)
cytoplasm  (IBA,IDA,IEA)
cytosol  (IDA,TAS)
dendrite  (IEA,ISO,ISS)
ISGF3 complex  (IBA,IPI)
nucleolus  (IDA)
nucleoplasm  (IDA,TAS)
nucleus  (IBA,IC,IDA,IEA)
perinuclear region of cytoplasm  (IDA)
protein-containing complex  (IDA)
RNA polymerase II transcription regulator complex  (IPI,NAS)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal circulating interferon-gamma concentration  (IAGP)
Abnormal intestine morphology  (IAGP)
Abnormality of the endocrine system  (IAGP)
Adenocarcinoma of the colon  (IAGP)
Antiphospholipid antibody positivity  (IAGP)
Autoimmune hemolytic anemia  (IAGP)
Autoimmune thrombocytopenia  (IAGP)
Autosomal dominant inheritance  (IAGP)
Autosomal recessive inheritance  (IAGP)
B lymphocytopenia  (IAGP)
BCGitis  (IAGP)
Bronchiectasis  (IAGP)
Carotid artery dilatation  (IAGP)
Childhood onset  (IAGP)
Chronic diarrhea  (IAGP)
Chronic mucocutaneous candidiasis  (IAGP)
Chronic oral candidiasis  (IAGP)
Coccidioidomycosis  (IAGP)
Cognitive impairment  (IAGP)
Colon cancer  (IAGP)
Combined immunodeficiency  (IAGP)
Congestive heart failure  (IAGP)
Cough  (IAGP)
Decreased lymphocyte proliferation in response to anti-CD3  (IAGP)
Delayed puberty  (IAGP)
Delayed skeletal maturation  (IAGP)
Delayed speech and language development  (IAGP)
Diabetes mellitus  (IAGP)
Diarrhea  (IAGP)
Dilatation of the cerebral artery  (IAGP)
Disseminated histoplasmosis  (IAGP)
Early young adult onset  (IAGP)
Eczematoid dermatitis  (IAGP)
Enterocolitis  (IAGP)
Esophageal carcinoma  (IAGP)
Failure to thrive  (IAGP)
Fatigue  (IAGP)
Fever  (IAGP)
Functional abnormality of the bladder  (IAGP)
Gastrointestinal eosinophilia  (IAGP)
Generalized osteoporosis  (IAGP)
Growth delay  (IAGP)
Hepatitis  (IAGP)
Hepatomegaly  (IAGP)
Hepatosplenomegaly  (IAGP)
Herpes simplex encephalitis  (IAGP)
Hypothyroidism  (IAGP)
Immune dysregulation  (IAGP)
Immunodeficiency  (IAGP)
Impaired lymphocyte transformation with phytohemagglutinin  (IAGP)
Infectious encephalitis  (IAGP)
Inflammatory abnormality of the skin  (IAGP)
Intussusception  (IAGP)
Juvenile onset  (IAGP)
Liver abscess  (IAGP)
Lymphadenopathy  (IAGP)
Lymphopenia  (IAGP)
Medial calcification of large arteries  (IAGP)
Muscle weakness  (IAGP)
Neutropenia in presence of anti-neutropil antibodies  (IAGP)
Onychomycosis  (IAGP)
Oropharyngeal squamous cell carcinoma  (IAGP)
Osteomyelitis  (IAGP)
Osteopenia  (IAGP)
Patent foramen ovale  (IAGP)
Primary hypothyroidism  (IAGP)
Protein-losing enteropathy  (IAGP)
Pulmonary arterial hypertension  (IAGP)
Pulmonary nodule  (IAGP)
Recurrent Aspergillus infections  (IAGP)
Recurrent herpes  (IAGP)
Recurrent infections  (IAGP)
Recurrent mycobacterial infections  (IAGP)
Recurrent mycobacterium avium complex infections  (IAGP)
Recurrent respiratory infections  (IAGP)
Recurrent upper respiratory tract infections  (IAGP)
Recurrent viral infections  (IAGP)
Recurrent vulvovaginal candidiasis  (IAGP)
Renal artery stenosis  (IAGP)
Renovascular hypertension  (IAGP)
Severe T-cell immunodeficiency  (IAGP)
Short stature  (IAGP)
Skeletal muscle atrophy  (IAGP)
Splenomegaly  (IAGP)
T lymphocytopenia  (IAGP)
Thrombocytopenia  (IAGP)
Thyroiditis  (IAGP)
Type I diabetes mellitus  (IAGP)
Typified by incomplete penetrance  (IAGP)
Villous atrophy  (IAGP)
Weight loss  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Specific transcription factors prognostic for prostate cancer progression. Aoyagi K, etal., Clin Cancer Res. 1998 Sep;4(9):2153-60.
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8. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
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20. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
21. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
22. PID Annotation Import Pipeline Pipeline to import Pathway Interaction Database annotations from NCI into RGD
23. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
24. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
25. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
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