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Gene id 3458
Gene Summary     SNPs    Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed    

Gene Summary

Gene Symbol IFNG   Gene   UCSC   Ensembl
Aliases IFG, IFI
Gene name interferon gamma
Alternate names interferon gamma, IFN-gamma, immune interferon,
Gene location 12q15 (68159740: 68154769)     Exons: 4     NC_000012.12
Gene summary(Entrez) This gene encodes a soluble cytokine that is a member of the type II interferon class. The encoded protein is secreted by cells of both the innate and adaptive immune systems. The active protein is a homodimer that binds to the interferon gamma receptor w
OMIM 147570

SNPs


rs118204043

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000006.12   g.116628175C>T
NC_000006.11   g.116949338C>T
NG_012934.1   g.16697C>T
NM_001010892.2   c.1468C>T
NM_001010892.3   c.1468C>T
NM_001161664.1   c.1468C>T
XM_017010826.1   c.1468C>T
NP_001010892.1   p.Arg490Ter
NP_001155136.1   p.Arg490Ter
XP_016866315.1   p.

rs118204042

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000006.12   g.116616948C>T
NC_000006.11   g.116938111C>T
NG_012934.1   g.5470C>T
NM_001010892.2   c.325C>T
NM_001010892.3   c.325C>T
NM_001161664.1   c.325C>T
XM_017010826.1   c.325C>T
NP_001010892.1   p.Gln109Ter
NP_001155136.1   p.Gln109Ter
XP_016866315.1   p.Gln10

rs118204041

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000006.12   g.116617083C>T
NC_000006.11   g.116938246C>T
NG_012934.1   g.5605C>T
NM_001010892.2   c.460C>T
NM_001010892.3   c.460C>T
NM_001161664.1   c.460C>T
XM_017010826.1   c.460C>T
NP_001010892.1   p.Gln154Ter
NP_001155136.1   p.Gln154Ter
XP_016866315.1   p.Gln15

rs3779456

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000007.14   g.27174938T>C
NC_000007.13   g.27214557T>C|SEQ=[T/C]|GENE=HOXA10
HOXA10-HOXA9   100534589

rs2430561

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000012.12   g.68158742T>A
NC_000012.11   g.68552522T>A
NG_015840.1   g.6000A>T|SEQ=[T/A]|GENE=IFNG

Protein Summary

Protein general information P01579  

Name: Interferon gamma (IFN gamma) (Immune interferon)

Length: 166  Mass: 19,348

Tissue specificity: Testis specific.

Sequence MKYTSYILAFQLCIVLGSLGCYCQDPYVKEAENLKKYFNAGHSDVADNGTLFLGILKNWKEESDRKIMQSQIVSF
YFKLFKNFKDDQSIQKSVETIKEDMNVKFFNSNKKKRDDFEKLTNYSVTDLNVQRKAIHELIQVMAELSPAAKTG
KRKRSQMLFRGRRASQ
Structural information
Interpro:  IPR009079  IPR002069  

PDB:  
1EKU 1FG9 1FYH 1HIG 3BES
PDBsum:   1EKU 1FG9 1FYH 1HIG 3BES

DIP:  

483

STRING:   ENSP00000229135
Other Databases GeneCards:  IFNG  Malacards:  IFNG

Gene ontology

Expand All | Collapse All

GO accessionTerm nameEvidence codeGo category
GO:0000060 protein import into nucle
us, translocation
IDA biological process
GO:0000122 negative regulation of tr
anscription from RNA poly
merase II promoter
ISS biological process
GO:0001781 neutrophil apoptotic proc
ess
IEA biological process
GO:0002026 regulation of the force o
f heart contraction
IEA biological process
GO:0002250 adaptive immune response
IBA biological process
GO:0002302 CD8-positive, alpha-beta
T cell differentiation in
volved in immune response
IEA biological process
GO:0005125 cytokine activity
IBA molecular function
GO:0005133 interferon-gamma receptor
binding
IEA molecular function
GO:0005576 extracellular region
IDA cellular component
GO:0005576 extracellular region
TAS cellular component
GO:0005576 extracellular region
TAS cellular component
GO:0005576 extracellular region
TAS cellular component
GO:0005576 extracellular region
TAS cellular component
GO:0005576 extracellular region
TAS cellular component
GO:0005576 extracellular region
TAS cellular component
GO:0005576 extracellular region
TAS cellular component
GO:0005576 extracellular region
TAS cellular component
GO:0005576 extracellular region
TAS cellular component
GO:0005615 extracellular space
IBA cellular component
GO:0005622 intracellular
IEA cellular component
GO:0006915 apoptotic process
IGI biological process
GO:0006928 movement of cell or subce
llular component
TAS biological process
GO:0006959 humoral immune response
IBA biological process
GO:0007050 cell cycle arrest
IDA biological process
GO:0007166 cell surface receptor sig
naling pathway
TAS biological process
GO:0008284 positive regulation of ce
ll proliferation
ISS biological process
GO:0009615 response to virus
IDA biological process
GO:0009897 external side of plasma m
embrane
IEA cellular component
GO:0010508 positive regulation of au
tophagy
IDA biological process
GO:0010628 positive regulation of ge
ne expression
IDA biological process
GO:0010628 positive regulation of ge
ne expression
IDA biological process
GO:0010628 positive regulation of ge
ne expression
IDA biological process
GO:0010629 negative regulation of ge
ne expression
IDA biological process
GO:0010634 positive regulation of ep
ithelial cell migration
IDA biological process
GO:0019882 antigen processing and pr
esentation
IEA biological process
GO:0030593 neutrophil chemotaxis
IEA biological process
GO:0030857 negative regulation of ep
ithelial cell differentia
tion
ISS biological process
GO:0030968 endoplasmic reticulum unf
olded protein response
IEA biological process
GO:0031642 negative regulation of my
elination
IEA biological process
GO:0032224 positive regulation of sy
naptic transmission, chol
inergic
IEA biological process
GO:0032700 negative regulation of in
terleukin-17 production
IDA biological process
GO:0032735 positive regulation of in
terleukin-12 production
IDA biological process
GO:0032735 positive regulation of in
terleukin-12 production
IDA biological process
GO:0032747 positive regulation of in
terleukin-23 production
IDA biological process
GO:0032760 positive regulation of tu
mor necrosis factor produ
ction
IEA biological process
GO:0032834 positive regulation of CD
4-positive, CD25-positive
, alpha-beta regulatory T
cell differentiation inv
olved in immune response
IDA biological process
GO:0033141 positive regulation of pe
ptidyl-serine phosphoryla
tion of STAT protein
IDA biological process
GO:0033141 positive regulation of pe
ptidyl-serine phosphoryla
tion of STAT protein
NAS biological process
GO:0034393 positive regulation of sm
ooth muscle cell apoptoti
c process
IDA biological process
GO:0042102 positive regulation of T
cell proliferation
IEA biological process
GO:0042493 response to drug
IEA biological process
GO:0042511 positive regulation of ty
rosine phosphorylation of
Stat1 protein
IDA biological process
GO:0042511 positive regulation of ty
rosine phosphorylation of
Stat1 protein
IDA biological process
GO:0042742 defense response to bacte
rium
IEA biological process
GO:0042832 defense response to proto
zoan
IEA biological process
GO:0044130 negative regulation of gr
owth of symbiont in host
IEA biological process
GO:0045080 positive regulation of ch
emokine biosynthetic proc
ess
IEA biological process
GO:0045084 positive regulation of in
terleukin-12 biosynthetic
process
IEA biological process
GO:0045348 positive regulation of MH
C class II biosynthetic p
rocess
IEA biological process
GO:0045410 positive regulation of in
terleukin-6 biosynthetic
process
IEA biological process
GO:0045429 positive regulation of ni
tric oxide biosynthetic p
rocess
IDA biological process
GO:0045666 positive regulation of ne
uron differentiation
IEA biological process
GO:0045672 positive regulation of os
teoclast differentiation
IDA biological process
GO:0045944 positive regulation of tr
anscription from RNA poly
merase II promoter
IEA biological process
GO:0048304 positive regulation of is
otype switching to IgG is
otypes
IEA biological process
GO:0048662 negative regulation of sm
ooth muscle cell prolifer
ation
IDA biological process
GO:0050718 positive regulation of in
terleukin-1 beta secretio
n
IEA biological process
GO:0050796 regulation of insulin sec
retion
IDA biological process
GO:0050852 T cell receptor signaling
pathway
IEA biological process
GO:0050954 sensory perception of mec
hanical stimulus
IEA biological process
GO:0051044 positive regulation of me
mbrane protein ectodomain
proteolysis
IDA biological process
GO:0051607 defense response to virus
IEA biological process
GO:0051712 positive regulation of ki
lling of cells of other o
rganism
IDA biological process
GO:0060333 interferon-gamma-mediated
signaling pathway
TAS biological process
GO:0060334 regulation of interferon-
gamma-mediated signaling
pathway
TAS biological process
GO:0060550 positive regulation of fr
uctose 1,6-bisphosphate 1
-phosphatase activity
IDA biological process
GO:0060552 positive regulation of fr
uctose 1,6-bisphosphate m
etabolic process
IDA biological process
GO:0060557 positive regulation of vi
tamin D biosynthetic proc
ess
IDA biological process
GO:0060559 positive regulation of ca
lcidiol 1-monooxygenase a
ctivity
IDA biological process
GO:0071222 cellular response to lipo
polysaccharide
IEA biological process
GO:0071351 cellular response to inte
rleukin-18
IEA biological process
GO:0090004 positive regulation of es
tablishment of protein lo
calization to plasma memb
rane
IDA biological process
GO:0097191 extrinsic apoptotic signa
ling pathway
IDA biological process
GO:0098908 regulation of neuronal ac
tion potential
IEA biological process
GO:1903543 positive regulation of ex
osomal secretion
IDA biological process
GO:2000309 positive regulation of tu
mor necrosis factor (liga
nd) superfamily member 11
production
IDA biological process
GO:2000345 regulation of hepatocyte
proliferation
IEA biological process
GO:0000060 protein import into nucle
us, translocation
IDA biological process
GO:0000122 negative regulation of tr
anscription from RNA poly
merase II promoter
IEA biological process
GO:0000122 negative regulation of tr
anscription from RNA poly
merase II promoter
ISS biological process
GO:0001781 neutrophil apoptotic proc
ess
IEA biological process
GO:0002026 regulation of the force o
f heart contraction
IEA biological process
GO:0002250 adaptive immune response
IEA biological process
GO:0002250 adaptive immune response
IBA biological process
GO:0002302 CD8-positive, alpha-beta
T cell differentiation in
volved in immune response
IEA biological process
GO:0005125 cytokine activity
IEA molecular function
GO:0005125 cytokine activity
IBA molecular function
GO:0005125 cytokine activity
IEA molecular function
GO:0005133 interferon-gamma receptor
binding
IEA molecular function
GO:0005133 interferon-gamma receptor
binding
TAS molecular function
GO:0005576 extracellular region
IEA cellular component
GO:0005576 extracellular region
IEA cellular component
GO:0005576 extracellular region
IEA cellular component
GO:0005576 extracellular region
IDA cellular component
GO:0005576 extracellular region
TAS cellular component
GO:0005576 extracellular region
TAS cellular component
GO:0005576 extracellular region
TAS cellular component
GO:0005576 extracellular region
TAS cellular component
GO:0005576 extracellular region
TAS cellular component
GO:0005576 extracellular region
TAS cellular component
GO:0005576 extracellular region
TAS cellular component
GO:0005576 extracellular region
TAS cellular component
GO:0005576 extracellular region
TAS cellular component
GO:0005615 extracellular space
IEA cellular component
GO:0005615 extracellular space
IBA cellular component
GO:0005615 extracellular space
IEA cellular component
GO:0005622 intracellular
IEA cellular component
GO:0006355 regulation of transcripti
on, DNA-templated
IEA biological process
GO:0006915 apoptotic process
IGI biological process
GO:0006925 inflammatory cell apoptot
ic process
IEA biological process
GO:0006928 movement of cell or subce
llular component
TAS biological process
GO:0006955 immune response
IEA biological process
GO:0006959 humoral immune response
IEA biological process
GO:0006959 humoral immune response
IBA biological process
GO:0007050 cell cycle arrest
IDA biological process
GO:0007166 cell surface receptor sig
naling pathway
TAS biological process
GO:0008284 positive regulation of ce
ll proliferation
IEA biological process
GO:0008284 positive regulation of ce
ll proliferation
ISS biological process
GO:0008285 negative regulation of ce
ll proliferation
IEA biological process
GO:0009615 response to virus
IDA biological process
GO:0009897 external side of plasma m
embrane
IEA cellular component
GO:0010508 positive regulation of au
tophagy
IDA biological process
GO:0010628 positive regulation of ge
ne expression
IDA biological process
GO:0010628 positive regulation of ge
ne expression
IDA biological process
GO:0010628 positive regulation of ge
ne expression
IDA biological process
GO:0010629 negative regulation of ge
ne expression
IDA biological process
GO:0010634 positive regulation of ep
ithelial cell migration
IDA biological process
GO:0019882 antigen processing and pr
esentation
IEA biological process
GO:0030593 neutrophil chemotaxis
IEA biological process
GO:0030857 negative regulation of ep
ithelial cell differentia
tion
IEA biological process
GO:0030857 negative regulation of ep
ithelial cell differentia
tion
ISS biological process
GO:0030968 endoplasmic reticulum unf
olded protein response
IEA biological process
GO:0031642 negative regulation of my
elination
IEA biological process
GO:0032224 positive regulation of sy
naptic transmission, chol
inergic
IEA biological process
GO:0032700 negative regulation of in
terleukin-17 production
IDA biological process
GO:0032735 positive regulation of in
terleukin-12 production
IEA biological process
GO:0032735 positive regulation of in
terleukin-12 production
IDA biological process
GO:0032735 positive regulation of in
terleukin-12 production
IDA biological process
GO:0032747 positive regulation of in
terleukin-23 production
IDA biological process
GO:0032760 positive regulation of tu
mor necrosis factor produ
ction
IEA biological process
GO:0032834 positive regulation of CD
4-positive, CD25-positive
, alpha-beta regulatory T
cell differentiation inv
olved in immune response
IDA biological process
GO:0033141 positive regulation of pe
ptidyl-serine phosphoryla
tion of STAT protein
IEA biological process
GO:0033141 positive regulation of pe
ptidyl-serine phosphoryla
tion of STAT protein
IDA biological process
GO:0033141 positive regulation of pe
ptidyl-serine phosphoryla
tion of STAT protein
NAS biological process
GO:0034393 positive regulation of sm
ooth muscle cell apoptoti
c process
IDA biological process
GO:0040008 regulation of growth
IEA biological process
GO:0042102 positive regulation of T
cell proliferation
IEA biological process
GO:0042493 response to drug
IEA biological process
GO:0042511 positive regulation of ty
rosine phosphorylation of
Stat1 protein
IEA biological process
GO:0042511 positive regulation of ty
rosine phosphorylation of
Stat1 protein
IDA biological process
GO:0042511 positive regulation of ty
rosine phosphorylation of
Stat1 protein
IDA biological process
GO:0042742 defense response to bacte
rium
IEA biological process
GO:0042832 defense response to proto
zoan
IEA biological process
GO:0044130 negative regulation of gr
owth of symbiont in host
IEA biological process
GO:0044146 negative regulation of gr
owth of symbiont involved
in interaction with host
IEA biological process
GO:0045080 positive regulation of ch
emokine biosynthetic proc
ess
IEA biological process
GO:0045084 positive regulation of in
terleukin-12 biosynthetic
process
IEA biological process
GO:0045348 positive regulation of MH
C class II biosynthetic p
rocess
IEA biological process
GO:0045410 positive regulation of in
terleukin-6 biosynthetic
process
IEA biological process
GO:0045429 positive regulation of ni
tric oxide biosynthetic p
rocess
IEA biological process
GO:0045429 positive regulation of ni
tric oxide biosynthetic p
rocess
IDA biological process
GO:0045666 positive regulation of ne
uron differentiation
IEA biological process
GO:0045672 positive regulation of os
teoclast differentiation
IDA biological process
GO:0045785 positive regulation of ce
ll adhesion
IEA biological process
GO:0045893 positive regulation of tr
anscription, DNA-template
d
IEA biological process
GO:0045944 positive regulation of tr
anscription from RNA poly
merase II promoter
IEA biological process
GO:0048304 positive regulation of is
otype switching to IgG is
otypes
IEA biological process
GO:0048662 negative regulation of sm
ooth muscle cell prolifer
ation
IDA biological process
GO:0050718 positive regulation of in
terleukin-1 beta secretio
n
IEA biological process
GO:0050776 regulation of immune resp
onse
IEA biological process
GO:0050796 regulation of insulin sec
retion
IDA biological process
GO:0050852 T cell receptor signaling
pathway
IEA biological process
GO:0050954 sensory perception of mec
hanical stimulus
IEA biological process
GO:0051044 positive regulation of me
mbrane protein ectodomain
proteolysis
IDA biological process
GO:0051607 defense response to virus
IEA biological process
GO:0051607 defense response to virus
IEA biological process
GO:0051712 positive regulation of ki
lling of cells of other o
rganism
IDA biological process
GO:0060333 interferon-gamma-mediated
signaling pathway
TAS biological process
GO:0060334 regulation of interferon-
gamma-mediated signaling
pathway
TAS biological process
GO:0060550 positive regulation of fr
uctose 1,6-bisphosphate 1
-phosphatase activity
IDA biological process
GO:0060552 positive regulation of fr
uctose 1,6-bisphosphate m
etabolic process
IDA biological process
GO:0060557 positive regulation of vi
tamin D biosynthetic proc
ess
IDA biological process
GO:0060559 positive regulation of ca
lcidiol 1-monooxygenase a
ctivity
IDA biological process
GO:0071222 cellular response to lipo
polysaccharide
IEA biological process
GO:0071351 cellular response to inte
rleukin-18
IEA biological process
GO:0090004 positive regulation of es
tablishment of protein lo
calization to plasma memb
rane
IDA biological process
GO:0097191 extrinsic apoptotic signa
ling pathway
IDA biological process
GO:0098908 regulation of neuronal ac
tion potential
IEA biological process
GO:1903543 positive regulation of ex
osomal secretion
IDA biological process
GO:2000309 positive regulation of tu
mor necrosis factor (liga
nd) superfamily member 11
production
IDA biological process
GO:2000345 regulation of hepatocyte
proliferation
IEA biological process
GO:0000060 protein import into nucle
us, translocation
IDA biological process
GO:0000122 negative regulation of tr
anscription from RNA poly
merase II promoter
ISS biological process
GO:0002250 adaptive immune response
IBA biological process
GO:0005125 cytokine activity
IBA molecular function
GO:0005133 interferon-gamma receptor
binding
TAS molecular function
GO:0005576 extracellular region
IDA cellular component
GO:0005576 extracellular region
TAS cellular component
GO:0005576 extracellular region
TAS cellular component
GO:0005576 extracellular region
TAS cellular component
GO:0005576 extracellular region
TAS cellular component
GO:0005576 extracellular region
TAS cellular component
GO:0005576 extracellular region
TAS cellular component
GO:0005576 extracellular region
TAS cellular component
GO:0005576 extracellular region
TAS cellular component
GO:0005576 extracellular region
TAS cellular component
GO:0005615 extracellular space
IBA cellular component
GO:0006915 apoptotic process
IGI biological process
GO:0006928 movement of cell or subce
llular component
TAS biological process
GO:0006959 humoral immune response
IBA biological process
GO:0007050 cell cycle arrest
IDA biological process
GO:0007166 cell surface receptor sig
naling pathway
TAS biological process
GO:0008284 positive regulation of ce
ll proliferation
ISS biological process
GO:0009615 response to virus
IDA biological process
GO:0010508 positive regulation of au
tophagy
IDA biological process
GO:0010628 positive regulation of ge
ne expression
IDA biological process
GO:0010628 positive regulation of ge
ne expression
IDA biological process
GO:0010628 positive regulation of ge
ne expression
IDA biological process
GO:0010629 negative regulation of ge
ne expression
IDA biological process
GO:0010634 positive regulation of ep
ithelial cell migration
IDA biological process
GO:0030857 negative regulation of ep
ithelial cell differentia
tion
ISS biological process
GO:0032700 negative regulation of in
terleukin-17 production
IDA biological process
GO:0032735 positive regulation of in
terleukin-12 production
IDA biological process
GO:0032735 positive regulation of in
terleukin-12 production
IDA biological process
GO:0032747 positive regulation of in
terleukin-23 production
IDA biological process
GO:0032834 positive regulation of CD
4-positive, CD25-positive
, alpha-beta regulatory T
cell differentiation inv
olved in immune response
IDA biological process
GO:0033141 positive regulation of pe
ptidyl-serine phosphoryla
tion of STAT protein
IDA biological process
GO:0033141 positive regulation of pe
ptidyl-serine phosphoryla
tion of STAT protein
NAS biological process
GO:0034393 positive regulation of sm
ooth muscle cell apoptoti
c process
IDA biological process
GO:0042511 positive regulation of ty
rosine phosphorylation of
Stat1 protein
IDA biological process
GO:0042511 positive regulation of ty
rosine phosphorylation of
Stat1 protein
IDA biological process
GO:0045429 positive regulation of ni
tric oxide biosynthetic p
rocess
IDA biological process
GO:0045672 positive regulation of os
teoclast differentiation
IDA biological process
GO:0048662 negative regulation of sm
ooth muscle cell prolifer
ation
IDA biological process
GO:0050796 regulation of insulin sec
retion
IDA biological process
GO:0051044 positive regulation of me
mbrane protein ectodomain
proteolysis
IDA biological process
GO:0051712 positive regulation of ki
lling of cells of other o
rganism
IDA biological process
GO:0060333 interferon-gamma-mediated
signaling pathway
TAS biological process
GO:0060334 regulation of interferon-
gamma-mediated signaling
pathway
TAS biological process
GO:0060550 positive regulation of fr
uctose 1,6-bisphosphate 1
-phosphatase activity
IDA biological process
GO:0060552 positive regulation of fr
uctose 1,6-bisphosphate m
etabolic process
IDA biological process
GO:0060557 positive regulation of vi
tamin D biosynthetic proc
ess
IDA biological process
GO:0060559 positive regulation of ca
lcidiol 1-monooxygenase a
ctivity
IDA biological process
GO:0090004 positive regulation of es
tablishment of protein lo
calization to plasma memb
rane
IDA biological process
GO:0097191 extrinsic apoptotic signa
ling pathway
IDA biological process
GO:1903543 positive regulation of ex
osomal secretion
IDA biological process
GO:2000309 positive regulation of tu
mor necrosis factor (liga
nd) superfamily member 11
production
IDA biological process

KEGG pathways

Expand All | Collapse All

Pathway idPathway name
hsa04066HIF-1 signaling pathway
hsa04060Cytokine-cytokine receptor interaction
hsa04217Necroptosis
hsa04650Natural killer cell mediated cytotoxicity
hsa04612Antigen processing and presentation
hsa04660T cell receptor signaling pathway
hsa04658Th1 and Th2 cell differentiation
hsa04659Th17 cell differentiation
hsa04657IL-17 signaling pathway
hsa04380Osteoclast differentiation
hsa05200Pathways in cancer
hsa05235PD-L1 expression and PD-1 checkpoint pathway in cancer
hsa05322Systemic lupus erythematosus
hsa05323Rheumatoid arthritis
hsa05321Inflammatory bowel disease
hsa05330Allograft rejection
hsa05332Graft-versus-host disease
hsa05418Fluid shear stress and atherosclerosis
hsa04940Type I diabetes mellitus
hsa05132Salmonella infection
hsa05152Tuberculosis
hsa05164Influenza A
hsa05160Hepatitis C
hsa05168Herpes simplex virus 1 infection
hsa05146Amoebiasis
hsa05144Malaria
hsa05145Toxoplasmosis
hsa05140Leishmaniasis
hsa05142Chagas disease
hsa05143African trypanosomiasis
Associated diseases References
Angiomyolipoma GAD: 12192641
Cancer GAD: 19959217
Cancer (Adenocarcinoma) GAD: 19152246
Cancer (bladder) GAD: 16938461
Cancer (breast) GAD: 15931634
Cancer (cervical) GAD: 15499631
Cancer (colorectal) GAD: 17454884
Cancer (esophageal) GAD: 19801321
Cancer (ovarian) INFBASE: 17707463
Cancer (Hepatocellular) GAD: 19126646
Cancer (kidney) GAD: 15784411
Cancer (leukemia) GAD: 15932621
Cancer (liver) GAD: 15643599
Cancer (lung) GAD: 18676680
Cancer (lymphoma) GAD: 18633131
Cancer (melanoma) GAD: 15709194
Cancer (nasopharyngeal) GAD: 18312596
Cancer (pancreatic) GAD: 15556691
Cancer (Squamous cell) GAD: 19495883
Cancer (stomach) GAD: 17444864
Kidney angiomyolipomas GAD: 12192641
Angina pectoris GAD: 19005292
Atherosclerosis GAD: 16115485
Cardiovascular disease GAD: 15570643
Carotid artery diseases GAD: 15992611
Omenn syndrome severe combined immunideficiency GAD: 17572155
Irritable bowel syndrome GAD: 20177758
Liver disease GAD: 15078471
Hashimoto disease GAD: 19250279
Hashimoto disease GAD: 16820703
Graves disease GAD: 15068623
Uveitis GAD: 16024856
Chorioretinitis GAD: 19547871
Anemia GAD: 18426658
Sarcoidosis GAD: 15019280
Aplastic anemia KEGG: H01132
Langerhans cell histiocytosis GAD: 16487180
Hodgkin disease GAD: 19508433
Lymphoproliferative disorders GAD: 16824159
Idiopathic thrombocytopenic purpura GAD: 17655693
Allergy GAD: 11354638
Arthritis GAD: 11981324
Asthma GAD: 11240951
Bronchial hyperreactivity GAD: 19247692
Asthma GAD: 11240951
Atopy GAD: 15007355
Autoimmune diseases GAD: 20082482
Behcet's disease GAD: 19796538
Bullous pemphigoid GAD: 16403098
Celiac disease GAD: 15215891
Sjogren's syndrome GAD: 16166103
Juvenile arthritis GAD: 15901906
Ulcerative colitis GAD: 19122664
Rheumatoid arthritis GAD: 15018649
Multiple sclerosis GAD: 16183136
Scleroderma GAD: 18576303
Psoriasis GAD: 11298547
Systemic lupus erythematosus (SLE) GAD: 20530519
Systemic lupus erythematosus (SLE) GAD: 11528517
Celiac disease GAD: 15215891
Inflammatory bowel disease GAD: 15842590
Diabetes GAD: 12818128
Degenerative arthropathy GAD: 17994425
Osteolysis GAD: 19860911
Idiopathic inflammatory myopathies GAD: 17405833
Giant cell arteritis GAD: 15570643
Uveomeningoencephalitic syndrome GAD: 18199975
Myasthenia gravis GAD: 17509455
Alzheimer's disease GAD: 16930778
Parkinson disease GAD: 18568448
Chronic fatigue syndrome GAD: 16762155
Mood disorders GAD: 19890236
Chronic renal failure GAD: 20303284
Kidney diseases GAD: 18627514
Abortion GAD: 20587610
Preeclampsia GAD: 16433832
Preterm birth risk GAD: 19375805
Preterm birth risk GAD: 17145371
Adenomyosis INFBASE: 12069392
Deep infiltrating endometriosis INFBASE: 11327093
Endometrial polyp INFBASE: 21872231
Endometriosis INFBASE: 22007253
Female infertility INFBASE: 17706208
Leiomyoma INFBASE: 14597251
Recurrent implantation failure (RIF) INFBASE: 12615834
Reproductive disorderes INFBASE: 12607776
Endometriosis INFBASE: 17959888
Polycystic ovary syndrome (PCOS) INFBASE: 26751822
Recurrent pregnancy loss (RPL) INFBASE: 26368793
Recurrent pregnancy loss (RPL) INFBASE: 26368793
Recurrent pregnancy loss (RPL) INFBASE: 17482605
Recurrent pregnancy loss (RPL) INFBASE: 12660269
Unexplained infertility INFBASE: 24368037
Male factor infertility MIK: 11476770
Obstructive azoospermia MIK: 19811461
Male subfertility MIK: 19811461
Sperm motility MIK: 1601744
Male subfertility MIK: 19811461
Implantation failure INFBASE: 15105393
Infertility INFBASE: 26114934
Female infertility INFBASE: 7500318
Asthenozoospermia MIK: 19811461
Interstitial lung diseases GAD: 19117745
Lung disease GAD: 16474934
Pulmonary fibrosis GAD: 12914676
Severe acute respiratory syndrome GAD: 19258635
Chronic obstructive pulmonary disease (COPD) GAD: 18410260
Wegener granulomatosis GAD: 15708894
Asthma GAD: 11240951
Dermatitis GAD: 16681592
Vitiligo GAD: 18820938
Pemphigus vulgaris GAD: 19470040
Connective tissue diseases GAD: 19527514
Gingival hemorrhage GAD: 18672993
Bronchiectasis GAD: 17026468
Bronchiolitis GAD: 19773677
Bronchiolitis GAD: 12451269
TSC2 angiomyolipomas OMIM: 147570
Nephropathy GAD: 12552499
Male infertility MIK: 26648778
Obstructed azoospermia MIK: 19811461
Asthenozoospermia MIK: 19811461
Sperm motility MIK: 1601744

PubMed references

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PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
19811461 Male subfe
rtility

77 male partner
s of an inferti
le couple
Male infertility IL-6
IL-8
IL-10
IL-11
IL-12
 TNF-alpha and IFN-gamma
Show abstract
7928663 Male infer
tility

27 (15 infertil
e men, 10 ferti
le men)
Male infertility TNF-alpha
IFN-gamma
IL-1 beta
IL-8
Show abstract
26648778 Male infer
tility

82 (27 healthy
controls, 55 in
fertile patient
s (22 patients
with varicocele
, 13 with idiop
athic infertili
ty) )
Male infertility IL-1?
IL-10
IL-18
TGF-?1
IFN-g
IL-6
Show abstract
19811461 Subfertile
men

79 male partner
s
Male infertility IL-6
IL-10
TNF-alpha
IFN-gamma
Show abstract
11476770 Male facto
r infertil
ity

9 sperm donors
Male infertility TYK 2
STAT 1
IFN-alpha
IFN-gamma
IL-12
TYK 2
STAT 4
Show abstract
10813851 Male infer
tility


Male infertility
Show abstract
1601744 Sperm moti
lity, Male
infertili
ty


Male infertility
Show abstract
19811461 Obstructed
azoosperm
ia, asthen
ospermia

73 male partner
s of an inferti
le couple atten
ding a regional
andrology unit
 
Male infertility  IL-6
IL-8
IL-10
IL-11
IL-12
TNF-alpha and IFN-gamma
Show abstract
11380702 Male facto
r infertil
ity


Male infertility
Show abstract
16674600 Male infer
tility, ge
nital trac
t infectio
ns

80 (18 fertile
men, 17 inferti
le men with gen
ital tract infe
ctions, 15 infe
rtile men with
varicocele, 6 w
ith Klienfelter
syndrome, 7 wi
th cryptorchidi
sm, 7 with mump
s orchitis, 10
with idiopathic
testicular les
ions)
Male infertility IL-18
IFN-gamma 
Show abstract
8738079 Male infer
tility

41 (20 had prov
en fertility an
d normal semen
quality (fertil
e group), 21 sh
owed male infer
tility for at l
east 2 years an
d poor semen qu
ality (infertil
e group))
Male infertility INF-gamma
Show abstract