1. Gene
  2. STAT1 - signal transducer and activator of transcription 1 Gene

STAT1 - signal transducer and activator of transcription 1 Gene

Homo sapiens

Also known as CANDF7; IMD31A; IMD31B; IMD31C; ISGF-3; STAT91

Gene ID: 6772 | Gene type: protein coding

About STAT1

Cytogenetic location: 2q32.2 Genomic coordinates (GRCh38): 2:190,969,149-191,014,171 (from NCBI)

This gene has 41 transcripts (splice variants), 328 orthologues, 6 paralogues and is associated with 6 phenotypes. Ubiquitous expression in lymph node (RPKM 79.1), appendix (RPKM 72.6) and 25 other tissues.

Summary

The protein encoded by this gene is a member of the STAT protein family. In response to Cytokines and Growth Factors, STAT family members are phosphorylated by the receptor associated kinases, and then form homo- or heterodimers that translocate to the cell nucleus where they act as transcription activators. The protein encoded by this gene can be activated by various ligands including interferon-alpha, interferon-gamma, EGF, PDGF and IL6. This protein mediates the expression of a variety of genes, which is thought to be important for cell viability in response to different cell stimuli and pathogens. The protein plays an important role in immune responses to viral, Fungal and mycobacterial pathogens. Mutations in this gene are associated with Immunodeficiency 31B, 31A, and 31C. [provided by RefSeq, Jun 2020]

STAT1 Products(14)

mRNA Protein Name
NM_001384880.1 NP_001371809.1 signal transducer and activator of transcription 1-alpha/beta isoform 1
NM_001384881.1 NP_001371810.1 signal transducer and activator of transcription 1-alpha/beta isoform 2
NM_001384882.1 NP_001371811.1 signal transducer and activator of transcription 1-alpha/beta isoform 3
NM_001384883.1 NP_001371812.1 signal transducer and activator of transcription 1-alpha/beta isoform 4
NM_001384884.1 NP_001371813.1 signal transducer and activator of transcription 1-alpha/beta isoform 5
NM_001384885.1 NP_001371814.1 signal transducer and activator of transcription 1-alpha/beta isoform 6
NM_001384886.1 NP_001371815.1 signal transducer and activator of transcription 1-alpha/beta isoform 7
NM_001384887.1 NP_001371816.1 signal transducer and activator of transcription 1-alpha/beta isoform 8
NM_001384888.1 NP_001371817.1 signal transducer and activator of transcription 1-alpha/beta isoform 9
NM_001384889.1 NP_001371818.1 signal transducer and activator of transcription 1-alpha/beta isoform 10
NM_001384890.1 NP_001371819.1 signal transducer and activator of transcription 1-alpha/beta isoform 11
NM_001384891.1 NP_001371820.1 signal transducer and activator of transcription 1-alpha/beta isoform 12
NM_007315.4 NP_009330.1 signal transducer and activator of transcription 1-alpha/beta isoform alpha
NM_139266.3 NP_644671.1 signal transducer and activator of transcription 1-alpha/beta isoform beta
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
NOT enables DNA-binding transcription factor activity IDA
IDA: Inferred from direct assay
10820245 GOA
enables DNA-binding transcription factor activity IDA
IDA: Inferred from direct assay
9535918 GOA
enables DNA-binding transcription factor activity, RNA polymerase II-specific IDA
IDA: Inferred from direct assay
11972023 GOA
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IDA
IDA: Inferred from direct assay
18035482 GOA
enables RNA polymerase II core promoter sequence-specific DNA binding IDA
IDA: Inferred from direct assay
23386060 GOA
enables RNA polymerase II transcription regulatory region sequence-specific DNA binding IDA
IDA: Inferred from direct assay
22002246 GOA
enables double-stranded DNA binding IDA
IDA: Inferred from direct assay
9630226 GOA
enables enzyme binding IPI
IPI: Inferred from physical interaction
26479788 GOA
enables histone acetyltransferase binding IPI
IPI: Inferred from physical interaction
26479788 GOA
enables histone binding IPI
IPI: Inferred from physical interaction
26479788 GOA
enables identical protein binding IPI
IPI: Inferred from physical interaction
8605877 GOA
enables promoter-specific chromatin binding IDA
IDA: Inferred from direct assay
26479788 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
8156998 GOA
enables protein homodimerization activity IDA
IDA: Inferred from direct assay
9630226 GOA
enables transcription coactivator binding IPI
IPI: Inferred from physical interaction
22002246 GOA
enables transcription corepressor binding IPI
IPI: Inferred from physical interaction
23386060 GOA
enables tumor necrosis factor receptor binding IPI
IPI: Inferred from physical interaction
10848577 GOA
enables ubiquitin-like protein ligase binding IPI
IPI: Inferred from physical interaction
26479788 GOA
Biological Process GO Annotation Evidence Reference Source
involved in cell surface receptor signaling pathway via JAK-STAT IDA
IDA: Inferred from direct assay
11972023 GOA
involved in cellular response to interferon-beta IDA
IDA: Inferred from direct assay
28753426 GOA
involved in cellular response to interferon-beta IMP
IMP: Inferred from mutant phenotype
18035482 GOA
involved in cellular response to type II interferon IDA
IDA: Inferred from direct assay
11972023 GOA
involved in defense response to virus IDA
IDA: Inferred from direct assay
28753426 GOA
NOT involved in endothelial cell migration IMP
IMP: Inferred from mutant phenotype
16585190 GOA
involved in interleukin-27-mediated signaling pathway IDA
IDA: Inferred from direct assay
32270034 GOA
involved in interleukin-7-mediated signaling pathway IDA
IDA: Inferred from direct assay
29202461 GOA
involved in interleukin-9-mediated signaling pathway IDA
IDA: Inferred from direct assay
9535918 GOA
involved in negative regulation by virus of viral protein levels in host cell IMP
IMP: Inferred from mutant phenotype
15825084 GOA
involved in negative regulation of angiogenesis IMP
IMP: Inferred from mutant phenotype
16585190 GOA
involved in negative regulation of canonical NF-kappaB signal transduction IMP
IMP: Inferred from mutant phenotype
10848577 GOA
involved in negative regulation of endothelial cell proliferation IMP
IMP: Inferred from mutant phenotype
16585190 GOA
involved in positive regulation of DNA-templated transcription IDA
IDA: Inferred from direct assay
10973496 GOA
involved in positive regulation of DNA-templated transcription IGI
IGI: Inferred from genetic interaction
26479788 GOA
involved in positive regulation of DNA-templated transcription IMP
IMP: Inferred from mutant phenotype
26479788 GOA
involved in positive regulation of defense response to virus by host IGI
IGI: Inferred from genetic interaction
26479788 GOA
involved in positive regulation of defense response to virus by host IMP
IMP: Inferred from mutant phenotype
26479788 GOA
involved in positive regulation of erythrocyte differentiation IMP
IMP: Inferred from mutant phenotype
28283061 GOA
involved in positive regulation of interferon-alpha production IDA
IDA: Inferred from direct assay
28753426 GOA
involved in positive regulation of transcription by RNA polymerase II IDA
IDA: Inferred from direct assay
10820245 GOA
involved in positive regulation of transcription by RNA polymerase II IMP
IMP: Inferred from mutant phenotype
18035482 GOA
NOT involved in regulation of transcription by RNA polymerase II IDA
IDA: Inferred from direct assay
10820245 GOA
involved in regulation of transcription by RNA polymerase II IDA
IDA: Inferred from direct assay
28753426 GOA
involved in renal tubule development IMP
IMP: Inferred from mutant phenotype
20861313 GOA
involved in response to interferon-beta IMP
IMP: Inferred from mutant phenotype
24882218 GOA
involved in response to type II interferon IDA
IDA: Inferred from direct assay
11972023 GOA
involved in tumor necrosis factor-mediated signaling pathway IDA
IDA: Inferred from direct assay
10848577 GOA
involved in type I interferon-mediated signaling pathway IDA
IDA: Inferred from direct assay
23386060 GOA
involved in type II interferon-mediated signaling pathway IDA
IDA: Inferred from direct assay
21268089 GOA
involved in type II interferon-mediated signaling pathway IMP
IMP: Inferred from mutant phenotype
26479788 GOA
Cellular Component GO Annotation Evidence Reference Source
part of ISGF3 complex IPI
IPI: Inferred from physical interaction
24065129 GOA
part of RNA polymerase II transcription regulator complex IPI
IPI: Inferred from physical interaction
8662591 GOA
located in chromatin IDA
IDA: Inferred from direct assay
18035482 GOA
located in cytoplasm IDA
IDA: Inferred from direct assay
10692450 GOA
colocalizes with nucleus IDA
IDA: Inferred from direct assay
26479788 GOA
is active in nucleus IDA
IDA: Inferred from direct assay
15322115 GOA
located in nucleus IDA
IDA: Inferred from direct assay
10692450 GOA
located in perinuclear region of cytoplasm IDA
IDA: Inferred from direct assay
17275127 GOA
part of protein-containing complex IDA
IDA: Inferred from direct assay
26479788 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

STAT1 Protein Structure

STAT_int

STAT_int: STAT protein, protein interaction domain (2 - 121)

STAT_alpha

STAT_alpha: STAT protein, all-alpha domain (137 - 315)

STAT_bind

STAT_bind: STAT protein, DNA binding domain (317 - 567)

SH2

SH2: SH2 domain (578 - 638)

STAT1_TAZ2bind

STAT1_TAZ2bind: STAT1 TAZ2 binding domain (715 - 739)

  • 0
  • 200
  • 400
  • 600
  • 750 a.a.
Protein Preferred Names Protein Names

signal transducer and activator of transcription 1-alpha/beta

signal transducer and activator of transcription 1, 91kD

STAT1 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Reference
Intra
STAT1 P42224 IFNGR1 Homo sapiens P15260
Competition Binding
8662591
Intra
STAT1 P42224 IFNGR1 Homo sapiens P15260
Competition Binding
8156998
Intra
STAT1 P42224 IFNGR1 Homo sapiens P15260
X-Ray Diffraction
15780933
Intra
STAT1 P42224 OTUD4 Homo sapiens Q01804
Y2H Prey Pooling
25416956
Intra
STAT1 P42224 OTUD4 Homo sapiens Q01804
Y2H Array
25416956
Intra
STAT1 P42224 STAT2 Homo sapiens P52630
Pull Down
8605877
Intra
STAT1 P42224 STAT2 Homo sapiens P52630
Crosslink
24065129
Intra
STAT1 P42224 STAT3 Homo sapiens P40763
Anti Tag CoIP
33961781
Intra
STAT1 P42224 STAT2 Homo sapiens P52630
Pull Down
26966684
Intra
STAT1 P42224 STAT2 Homo sapiens P52630
Anti Tag CoIP
33961781
Intra
STAT1 P42224 STAT2 Homo sapiens P52630
Anti Bait CoIP
15825084
Intra
STAT1 P42224 STAT2 Homo sapiens P52630
BioID
35140242
Intra
STAT1 P42224 STAT3 Homo sapiens P40763
Pull Down
26966684
Intra
STAT1 P42224 STAT3 Homo sapiens P40763
BioID
35140242
Intra
STAT1 P42224 STAT3 Homo sapiens P40763
Anti Tag CoIP
31462771
Intra
STAT1 P42224 STAT2 Homo sapiens P52630
Anti Bait CoIP
17923090
Intra
STAT1 P42224 STAT3 Homo sapiens P40763
Affinity Chrom
35140242
Intra
STAT1 P42224 JAK1 Homo sapiens P23458
Anti Tag CoIP
32953130
Intra
STAT1 P42224 JAK1 Homo sapiens P23458
Anti Tag CoIP
34950606
Intra
STAT1 P42224 JAK1 Homo sapiens P23458
Anti Tag CoIP
34521819
Cross
STAT1 P42224 S SARS-CoV-2 P0DTC2
Anti Tag CoIP
34950606
Cross
STAT1 P42224 N SARS-CoV-2 P0DTC9
Anti Tag CoIP
34521819
Cross
STAT1 P42224 N SARS-CoV-2 P0DTC9
Anti Tag CoIP
32953130
Intra
STAT1 P42224 EGFR Homo sapiens P00533
Anti Tag CoIP
24658140
Intra
STAT1 P42224 EGFR Homo sapiens P00533
Competition Binding
12070153
Intra
STAT1 P42224 DDB1 Homo sapiens Q16531
Y2H
21988832
Intra
STAT1 P42224 DDB1 Homo sapiens Q16531
Pull Down
21988832
Intra
STAT1 P42224 KPNA1 Homo sapiens P52294
Anti Tag CoIP
17596301
Intra
STAT1 P42224 KPNA1 Homo sapiens P52294
Pull Down
26966684
Intra
STAT1 P42224 E2F1 Homo sapiens Q01094
TAP
20195357
Intra
STAT1 P42224 ERBB2 Homo sapiens P04626
PLA
25241761
Intra
STAT1 P42224 ERBB2 Homo sapiens P04626
Protein Array
16273093
Intra
STAT1 P42224 PTK2 Homo sapiens Q05397
PLA
25241761
Intra
STAT1 P42224 EIF1AD Homo sapiens Q8N9N8
Validated Y2H
25416956
Intra
STAT1 P42224 EIF1AD Homo sapiens Q8N9N8
Y2H Array
25416956
Intra
STAT1 P42224 EIF1AD Homo sapiens Q8N9N8
Y2H Pooling
16189514
Intra
STAT1 P42224 RXRA Homo sapiens P19793
Pull Down
21988832
Intra
STAT1 P42224 FOS Homo sapiens P01100
Anti Bait CoIP
12788789
Intra
STAT1 P42224 RIGI Homo sapiens O95786
Anti Bait CoIP
24360797
Cross
STAT1 P42224 P27958-PRO_0000037566 Hepatitis C virus P27958-PRO_0000037566
Anti Bait CoIP
15825084
Cross
STAT1 P42224 p03255-1 Human adenovirus C P03255-1
Y2H
9881977
Cross
STAT1 P42224 p03255-1 Human adenovirus C P03255-1
Anti Bait CoIP
9881977
Cross
STAT1 P42224 p03255-2 Human adenovirus C P03255-2
Anti Bait CoIP
9881977
Cross
STAT1 P42224 polg_hcv1 Hepatitis C virus P26664
Anti Bait CoIP
16940534
Cross
STAT1 P42224 polg_hcv1 Hepatitis C virus P26664
Anti Tag CoIP
16940534
Cross
STAT1 P42224 P27958-PRO_0000037576 Hepatitis C virus P27958-PRO_0000037576
Anti Tag CoIP
17275127
Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant STAT1 Proteins

Cat. No. Product Name Accession Purity
HY-P71335 STAT1 Protein, Human P42224-2 (M1-V712) ≥95%
HY-P73628 STAT1 Protein, Human (sf9, His-GST) P42224-2 (M1-V712) ≥95%

Related Diseases

Diseases Alias
Immunodeficiency 31b

IMD31B

Immunodeficiency 31b, Mycobacterial And Viral Infections, Autosomal Recessive

Autosomal Recessive Stat1 Deficiency

Predisposition To Severe Viral Infection Due To Stat1 Deficiency

Susceptibility To Viral And Mycobacterial Infections Due To Stat1 Deficiency

Stat1 Deficiency, Autosomal Recessive

Autosomal Recessive Immunodeficiency 31b, Mycobacterial And Viral Infections

Stat1 Deficiency

Autosomal Recessive Susceptibility To Mycobacterial And Viral Infections

Mycobacterial And Viral Infections Due To Complete Stat1 Deficiency

Immunodeficiency, Type 31b, Mycobacterial And Viral Infections, Autosomal Recessive

Immunodeficiency 31c

IMD31C

Candidiasis, Familial, 7

Candf7

Candidiasis, Familial Chronic Mucocutaneous, Autosomal Dominant

Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome

Autoimmune Enteropathy And Endocrinopathy - Susceptibility To Chronic Infections Syndrome

Immunodeficiency 31c, Chronic Mucocutaneous Candidiasis, Autosomal Dominant

Autosomal Dominant Chronic Mucocutaneous Familial Candidiasis

Autosomal Dominant Immunodeficiency 31c

Familial Candidiasis 7

Chronic Mucocutaneous Candidiasis 7

Immunodeficiency 31c, Autosomal Dominant

Immunodeficiency, Type 31c, Autosomal Dominant

Immunodeficiency 31a

Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Stat1 Deficiency

IMD31A

Immunodeficiency 31a, Mycobacteriosis, Autosomal Dominant

Stat1 Deficiency, Autosomal Dominant

Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Signal Transducer And Activator Of Transcription 1 Deficiency

Msmd Due To Partial Signal Transducer And Activator Of Transcription 1 Deficiency

Msmd Due To Partial Stat1 Deficiency

Autosomal Dominant Immunodeficiency 31a, Mycobacteriosis

Immunodeficiency, Type 31a, Mycobacteriosis, Autosomal Dominant

Chronic Mucocutaneous Candidiasis

Candidiasis, Chronic Mucocutaneous

Cmc

Candidiasis Chronic Mucocutaneous

Bronchiectasis

Polynesian Bronchiectasis

Kartagener Syndrome

Bronchiectasis Nos

Hypothyroidism

Thyroid Diseases

Thyroid Disease

Thyroid Deficiency

Thyroid Insufficiency

Dysfunction Thyroid

Thyroid Dysfunction

Combined Immunodeficiency

Combined T Cell And B Cell Immunodeficiency

Congenital Combined Immunodeficiency

Syndrome With Combined Immunodeficiency

Combined T And B Cell Immunodeficiency

Combined Immunity Deficiency

Combined Immunodeficiency Syndrome

Combined T-Cell And B-Cell Immunodeficiency

Lymphopenic Agammaglobulinaemia

Combined T And B Cell Immunodeficiency
Melanoma

Malignant Melanoma

Cutaneous Melanoma

Naevocarcinoma

Malignant Melanomas

Mumps

Parotitis Due To Mumps Virus

Mumps Nos

Epidemic Parotitis

Infectious Parotitis

Candidiasis

Systemic Candidiasis

Invasive Candidiasis

Disseminated Candidiasis

Systemic Candida Infections

Candidiasis, Invasive

Rabies

Lyssa

Hydrophobia

St Hubert Disease

Coccidioidomycosis

Valley Fever

Primary Extrapulmonary Coccidioidomycosis

Coccidioides Immitis Infection

Coccidiosis

Coccidioides Infection

Coccidioidomycosis, Unspecified

San Joaquin Fever

California Disease

Desert Fever

Desert Rheumatism

San Joaquin Valley Fever

Enteric Coccidiosis

Primary Pulmonary Coccidioidomycosis

Acute Coccidioidomycosis

Posadas Wernicke Disease

Histoplasmosis

Darling Disease

Reticuloendotheliosis, X-Linked

Infection By Histoplasma Capsulatum

Histoplasma Infection

Reticuloendothelial Cytomycosis

Cytomycosis

Darling Histoplasmosis

African Histoplasmosis

Histoplasmosis Duboisii

Thanatophoric Dysplasia, Type I

Thanatophoric Dysplasia

Thanatophoric Dwarfism

Thanatophoric Dysplasia Type 1

TD1

Td

Thanatophoric Short Stature

Thanatophoric Dwarfism Type 1

Thanatophoric Dysplasia Type I

Platyspondylic Lethal Skeletal Dysplasia, San Diego Type

Lethal Short-Limbed Platyspondylic Dwarfism, San Diego Type

Skeletal Dysplasia, San Diego Type

Plsd San Diego Type

Thanatophoric Dwarfism 1

Dwarfism Thanatophoric

Dwarf, Thanatophoric

Thanatophoric Dysplasia 1

Lethal Short-Limbed Platyspondylic Dwarfism San Diego Type

Platyspondylic Lethal Skeletal Dysplasia San Diego Type

Thanatophoric Dwarf

Thanatophoric Dwarfism Or Short Stature

Thanatophoric Dwarfism Syndrome

Td - [Thanatophoric Dwarfism]

Measles

Rubeola

Morbilli

Measles Nos

Koplik Spots

Herpes Simplex

Herpes Simplex Infections

Herpesvirus Hominis Disease

Herpes Simplex Disease

Herpesviral Infection Due To Herpes Simplex

Infections Due To Simplex Virus

Herpes Nos

Myocarditis

Myocardial Inflammation

Inflammatory Cardiomyopathy

Fibrosarcoma

Neoplasms, Fibrous Tissue

Fibrocytic Tumor

Fibrosarcoma Of Soft Tissue

Fibrous Tissue Neoplasm

Vaccinia
Fanconi Anemia, Complementation Group C

Fanconi Anemia Complementation Group C

FANCC

Facc

Fac

Fa3

Fanconi Pancytopenia Type 3

Fanconi Pancytopenia, Type 3

Faces Syndrome

Facial Features , Anorexia, Cachexia, Eye And Skin Anomalies

Friedman-Goodman Syndrome

Abnormality Of The Face

Hepatitis B

Chronic Hepatitis B

Hepatitis B Infection

Serum Hepatitis

HBV

Hepatitis B Chronic

Hbv, Susceptibility To

Hepatitis B, Chronic

Chronic Hepatitis B Without Delta Agent

Chronic Hbv - [Hepatitis B Virus] Infection

Hepatitis B Nos

Chronic Type B Viral Hepatitis

Hep B Nos

Inflammatory Bowel Disease

Inflammatory Bowel Diseases

Bowel Disease, Inflammatory

Hepatitis

Chronic Hepatitis

Chronic Persistent Hepatitis

Acute Hepatitis

Hepatitis, Chronic

Acute And Subacute Liver Necrosis

Acute/Subac. Necrosis Of Liver

Animal Hepatitis

Hepatitis Chronic

Hepatitis A

Hepatitis, Animal

Hepatitis Due To Toxoplasmosis

Hepatitis In Toxoplasmosis

Toxoplasmal Hepatitis

Chronic Hepatitis, Unspecified

Chronic Active Hepatitis Nec

Other Specified Chronic Hepatitis

Chronic Persistent Hepatitis Nec

Chronic Lobular Hepatitis Nec

Yellow Fever

Urban Yellow Fever

Jungle Yellow Fever

Sylvatic Yellow Fever

Yf

Yellow Fever, Sylvan

Bronze John

Yellow Jack

Yf- [Yellow Fever]

Febris Flava

Trypanosomiasis
Laron Syndrome

Growth Hormone Insensitivity Syndrome

Growth Hormone Receptor Deficiency

Laron Dwarfism

Pituitary Dwarfism Ii

Laron-Type Isolated Somatotropin Defect

Primary Growth Hormone Resistance

Laron-Type Dwarfism

Laron Type Pituitary Dwarfism I

Primary Growth Hormone Insensitivity

Primary Gh Resistance

Gh-R Deficiency

Growth Hormone Receptor Defect

Laron-Type Pituitary Dwarfism

Laron-Type Short Stature

Severe Gh Insensitivity

Ghis

Short Stature Due To A Defect In Growth Hormone Receptor Or Post-Receptor Pathway

Complete Growth Hormone Insensitivity

Gh Receptor Deficiency

Primary Gh Insensitivity

Short Stature Due To Growth Hormone Resistance

LARS

Viral Infectious Disease

Viral Disease

Arbovirus Infections

Virus Infection

Virus Diseases

Viral Infection

Viral Infections

Virus Infections

Nail Disease

Nail Diseases

Abnormality Of The Nail

Nail Anomaly

Colorectal Cancer

Colon Cancer

Colorectal Carcinoma

Colon Carcinoma

Colorectal Cancer, Susceptibility To

Carcinoma Of Colon

CRC

Colorectal Cancer With Chromosomal Instability, Somatic

Colon Cancer, Somatic

Colon Cancer, Susceptibility To

Colonic Neoplasms

Colorectal Neoplasms

Colorectal Cancer, Somatic

Colon Cancer, Advanced, Somatic

Colonic Carcinoma

Colorectal Carcinomas

Colon Cancers

Colorectal Cancers

Cancer, Colorectal, Somatic

Cancer, Colon

Cancer, Colorectal, Susceptibility To

Colorectal Neoplasm

Colonic Neoplasm

Malignant Tumor Of Colon

Rosacea

Erythematotelangiectatic Rosacea

Papulopustular Rosacea

Phymatous Rosacea

Acne Roscea

Acne, Erythematosa

Granulomatous Rosacea

Ocular Rosacea

Acne Rosacea

Hypertrophic Rosacea

Osteomyelitis
Cd40 Ligand Deficiency

X-Linked Hyper Igm Syndrome

Hyperimmunoglobulin M Syndrome

Higm1

Hyper-Igm Syndrome Type 1

X-Linked Hyper-Igm Syndrome

Xhigm

Higmx-1

X-Linked Hyper-Igm Immunodeficiency

Hyper-Igm Syndrome 1

Immunodeficiency With Hyper-Igm, Type 1

Hyper-Igm Syndrome Due To Cd40 Ligand Deficiency

Hyper-Igm Syndrome Due To Cd40l Deficiency

Hyper-Igm Immunodeficiency Syndrome

Hyper-Igm Immunodeficiency Syndrome, Type 1

Immunodeficiency 35

Tyrosine Kinase 2 Deficiency

IMD35

Tyk2 Deficiency

Autosomal Recessive Hyper-Ige Syndrome With Atypical Mycobacteriosis

Susceptibility To Infection Due To Tyk2 Deficiency

Hyper-Ige Syndrome With Atypical Mycobacteriosis, Autosomal Recessive

Hies With Atypical Mycobacteriosis, Autosomal Recessive

Autosomal Recessiv Hies With Atypical Mycobacteriosis

Autosomal Recessive Hyper-Ige Syndrome Due To Tyk2 Deficiency

Autosomal Recessive Hies With Atypical Mycobacteriosis

Bronchitis

Chronic Bronchitis

Acute Bronchitis

Bronchitis, Chronic

Acute Bronchitis And Bronchiolitis

Chest Cold

Chest Infection

Ci - Chest Infection

Recurrent Wheezy Bronchitis

Bronchitis Chronic

Lower Respiratory Tract Infection

Acute Lower Respiratory Tract Infection

Chronic Bronchitis Nos

Senile Bronchitis

Bronchitis Nos In Those Under L5 Years Of Age

Bronchitis Nos

Polycythemia Vera

PV

Polycythemia Rubra Vera

Prv

Osler-Vaquez Disease

Chronic Erythremia

Polycythaemia Rubra Vera

Primary Polycythemia

Vaquez Disease

Polycythemia Vera, Somatic

Osler-Vaquez Syndrome

Proliferative Polycythaemia

Polycythemia Ruba Vera

Acquired Primary Erythrocytosis

Heilmeyer-Schoner Disease

Vaquez Osler Disease

Primary Polycythaemia

Stomatitis
Endometrial Cancer

Endometrial Carcinoma

Endometrial Neoplasm

Malignant Neoplasm Of Endometrium

Endometrioid Carcinoma

Endometrial Neoplasms

Carcinoma, Endometrioid

Endometrial Cancer, Familial

Endometrial Carcinoma, Somatic

Endometrial Cancer, Susceptibility To

Endometrial Ca

Malignant Endometrial Neoplasm

Neoplasm Of Endometrium

Primary Malignant Neoplasm Of Endometrium

Tumor Of Endometrium

Carcinoma Of The Endometrium

Endometrioid Carcinoma Of Female Reproductive System

ENDMC

Carcinoma Endometrioid

Endometrial Cancers

Cancer, Endometrial

Uterine Corpus Cancer

Immunodeficiency 28

IMD28

Ifngr2 Deficiency

Immunodeficiency 28, Mycobacteriosis, Autosomal Recessive

Immunodeficiency 28, Mycobacteriosis

Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Ifngammar2 Deficiency

Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Interferon Gamma Receptor 2 Deficiency

Msmd Due To Complete Ifngammar2 Deficiency

Msmd Due To Complete Interferon Gamma Receptor 2 Deficiency

Autosomal Recessive Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Ifngammar2 Deficiency

Autosomal Recessive Msmd Due To Partial Ifngammar2 Deficiency

Autosomal Recessive Msmd Due To Partial Interferon Gamma Receptor 2 Deficiency

Autosomal Recessive Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Interferon Gamma Receptor 2 Deficiency

Immunodeficiency, Type 28, Mycobacteriosis

Immunodeficiency 27b

Autosomal Dominant Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Ifngammar1 Deficiency

IMD27B

Immunodeficiency 27b, Mycobacteriosis, Autosomal Dominant

Ifngr1 Deficiency, Autosomal Dominant

Autosomal Dominant Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Interferon Gamma Receptor 1 Deficiency

Autosomal Dominant Msmd Due To Partial Ifngammar1 Deficiency

Autosomal Dominant Msmd Due To Partial Interferon Gamma Receptor 1 Deficiency

Immunodeficiency 27b, Mycobacteriosis, Ad

Autosomal Dominant Ifngr1 Deficiency

Autosomal Dominant Immunodeficiency 27b, Mycobacteriosis

Immunodeficiency, Type 27b, Mycobacteriosis, Autosomal Dominant

Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans

SADDAN

Saddan Dysplasia

Severe Achondroplasia With Developmental Delay And Acanthosis Nigricans

Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome

Ssb Syndrome

Skeleton Skin Brain Syndrome

Skeleton-Skin-Brain Syndrome

Achondroplasia

Crimean-Congo Hemorrhagic Fever

Crimean Hemorrhagic Fever

Cchf

Congo Hemorrhagic Fever

Hemorrhagic Fever, Crimean

Chf Congo Virus

Congo-Crimean Hemorrhagic Fever

Congo Fever

Hemorrhagic Fever Crimean-Congo

Cchf - [Crimean-Congo Haemorrhagic Fever]

Kara Mikh Typhoid Fever

Xīnjiāng Haemorrhagic Fever

Monocytic Leukemia

Monocytic Leukaemia

Schilling'S Leukaemia

Schilling'S Leukemia

M5b Acute Differentiated Monocytic Leukemia

Macs Syndrome

Macrocephaly, Alopecia, Cutis Laxa, And Scoliosis

Mycobacterium Avium Complex Disease

Rin2 Syndrome

Mycobacterium Avium-Intracellulare Infection

Tall Forehead, Sparse Hair, Skin Hyperextensibility, And Scoliosis

Mycobacterium Avium Complex

Mycobacterium Avium Infection

Infection Due To Mycobacterium Intracellulare

Mac Disease

Macrocephaly-Alopecia-Cutis Laxa-Scoliosis Syndrome

Rin2 Deficiency

Tall Forehead-Sparse Hair-Skin Hyperextensibility-Scoliosis Syndrome

MACS

Macrocephaly Alopecia Cutis Laxa And Scoliosis Syndrome

Acute Promyelocytic Leukemia

Leukemia, Acute Promyelocytic

Acute Myeloblastic Leukemia Type 3

Aml M3

APL

Leukemia, Acute Promyelocytic, Somatic

Aml With T(15

17)(Q22

Q12)

(Pml/Raralpha) And Variants

Apml

Acute Myeloblastic Leukemia 3

Acute Myeloid Leukemia With T(15

17)(Q22

Q12)

(Pml/Raralpha) And Variants

Acute Myeloblastic Leukaemia Type 3

Acute Myeloid Leukaemia M3

Acute Myeloid Leukemia M3

Acute Promyelocytic Leukaemia

M3 Anll

Myeloid Leukemia, Acute, M3

Leukemia Promyelocytic Acute

Leukemia, Promyelocytic, Acute

Leukemia, Acute, Promyelocytic

Multiple Sclerosis

MS

Multiple Sclerosis, Susceptibility To

Disseminated Sclerosis

Multiple Sclerosis, Disease Progression, Modifier Of

Insular Sclerosis

Multiple Sclerosis Modifier Of Disease Progression

Multiple Sclerosis, Susceptibility To 1

Multiple Sclerosis, Susceptibility To, 1

Multiple Sclerosis 1

Generalized Multiple Sclerosis

Multiple Sclerosis Variant

Multiple Sclerosis Susceptibility To

Cerebrospinal Sclerosis

Generalised Multiple Sclerosis

Ms - [Multiple Sclerosis]

Disseminated Cerebrospinal Sclerosis

Disseminated Multiple Sclerosis

Disseminated Nervous System Myelosclerosis

Multiple Cerebrospinal Sclerosis

Multiple Combined Sclerosis

Multiple Sclerosis Generalised

Disseminated Brain Sclerosis

Disseminated Spinal Sclerosis

Insular Brain Sclerosis

Miliary Brain Sclerosis

Multiple Combined Sclerosis Of Spinal Cord

Multiple Ascending Sclerosis

Multiple Brain Sclerosis

Multiple Sclerosis Of Brain Stem

Multiple Sclerosis Of The Brain Stem

Multiple Sclerosis Of Cord

Sclérose En Plaques

Plaque Sclerosis

Multiple Sclerosis Of The Spinal Cord

Immunodeficiency 27a

IMD27A

Autosomal Recessive Ifngr1 Deficiency

Autosomal Recessive Immunodeficiency 27a, Mycobacteriosis

Autosomal Recessive Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Ifngammar1 Deficiency

Autosomal Recessive Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Interferon Gamma Receptor 1 Deficiency

Autosomal Recessive Msmd Due To Partial Ifngammar1 Deficiency

Autosomal Recessive Msmd Due To Partial Interferon Gamma Receptor 1 Deficiency

Immunodeficiency 27a, Mycobacteriosis, Autosomal Recessive

Ifngr1 Deficiency, Autosomal Recessive

Immunodeficiency 27a, Mycobacteriosis, Ar

Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Ifngammar1 Deficiency

Msmd Due To Complete Ifngammar1 Deficiency

Msmd Due To Complete Interferon Gamma Receptor 1 Deficiency

Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Interferon Gamma Receptor 1 Deficiency

Familial Disseminated Atypical Mycobacterial Infection

Interferon Gamma, Receptor 1, Deficiency

Immunodeficiency, Type 27a, Mycobacteriosis, Ar

Mycobacterial Disease, Mendelian Susceptibility To

Vascular Disease

Vascular Diseases

Aneurysm

Spinal Cord Ischemia

Vascular Anomaly

Spinal Cord Vascular Diseases

Vascular Tissue Disease

Hyper Ige Recurrent Infection Syndrome 1

Job Syndrome

Hyper-Ige Recurrent Infection Syndrome 1

Hyperimmunoglobulin E Syndrome

Job'S Syndrome

Recurring Cold Staphylococcal Abscesses

Ige Syndromes

Buckley Syndrome

Hie - [Hyperimmunoglobulin E] Syndrome

Job-Buckley Syndrome

Quie-Hill Syndrome

Microphthalmia With Limb Anomalies

Waardenburg Anophthalmia Syndrome

Ophthalmoacromelic Syndrome

OAS

MLA

Anophthalmia-Syndactyly

Anophthalmia-Syndactyly Syndrome

Anophthalmos With Limb Anomalies

Anophthalmia Waardenburg Syndrome

Anophthalmos-Syndactyly

Ophthalmo-Acromelic Syndrome

Anophthalmia-Waardenburg Syndrome

Anophthalmos-Limb Anomalies Syndrome

Syndactyly-Anophthalmos Syndrome

Microphthalmia, With Limb Anomalies

Proteasome-Associated Autoinflammatory Syndrome 1

Jmp Syndrome

Nakajo-Nishimura Syndrome

Nkjo

Autoinflammation, Lipodystrophy, And Dermatosis Syndrome

Proteasome-Associated Autoinflammatory Syndrome 1 And Digenic Forms

Nakajo Syndrome

PRAAS1

Chronic Atypical Neutrophilic Dermatosis With Lipodystrophy And Elevated Temperature Syndrome

Candle

Joint Contractures, Muscular Atrophy, Microcytic Anemia, And Panniculitis-Induced Lipodystrophy

Aldd

Inflammation

Joint Contractures - Muscle Atrophy - Microcytic Anemia - Panniculitis-Induced Lipodystrophy

Nakajo Nishimura Syndrome

Amyotrophy Fat Tissue Anomaly

Japanese Autoinflammatory Syndrome With Lipodystrophy

Jasl

Joint Contractures Muscular Atrophy Microcytic Anemia And Panniculitis-Induced Lipodystrophy

Nns

Nodular Erythema With Digital Changes

Secondary Hypertrophic Osteoperiostosis With Pernio

Opportunistic Mycosis

Opportunistic Mycoses

Opportunistic Systemic Mycoses

Primary Cutaneous T-Cell Non-Hodgkin Lymphoma

Cutaneous T-Cell Lymphoma

Cutaneous T Cell Lymphoma

Lymphoma, T-Cell, Cutaneous

Ctcl

Lymphoma T-Cell Cutaneous

Osteochondrodysplasia

Skeletal Dysplasia

Chondrodystrophy

Congenital Anomaly Of Cartilage

Osteochondrodysplasias

Cartilage Development Disorder

Osteochondrodysplasia Syndrome

Dysplasia, Skeletal

Mucopolysaccharidosis Iv

Systemic Lupus Erythematosus

Lupus Nephritis

SLE

Disseminated Lupus Erythematosus

Systemic Lupus Erythematosus, Susceptibility To

Lupus Erythematosus, Systemic

Lupus Nephritis, Susceptibility To

Libman-Sacks Disease

Systemic Lupus Erythematosus Susceptibility To

Sle - Lupus Erythematosus, Systemic

Le Syndrome

Lupus

Lupus Erythematosus Systemic

Lupus Erythematosus, Systemic, Susceptibility To

Lupus Vulgaris

Lupus Erythematosus, Discoid

Lupus Erythematosus

Systemic Lupus Erythematosus Nos

Sle - [Systemic Lupus Erythematosus]

Autoimmune Polyendocrine Syndrome

Autoimmune Polyendocrinopathy

Autoimmune Polyglandular Failure

Autoimmune Polyglandular Syndrome

Polyendocrinopathies, Autoimmune

Lloyd'S Syndrome

Aps

Polyendocrinopathies Autoimmune

Polyendocrine Autoimmunity Syndrome

Lloyd Syndrome

Polyglandular Autoimmune Deficiency

Progressive Pluriglandular Insufficiency

Pluriglandular Autoimmune Atrophy

Pluriglandular Autoimmune Syndrome

Thyroid-Adrenocortical Insufficiency Syndrome

Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked

IPEX

X-Linked Autoimmunity-Allergic Dysregulation Syndrome

Xlaad

Diarrhea, Polyendocrinopathy, Fatal Infection Syndrome, X-Linked

Ipex Syndrome

Insulin-Dependent Diabetes Mellitus Secretory Diarrhea Syndrome

Iddm-Secretory Diarrhea Syndrome

Dmsd

Autoimmunity-Immunodeficiency Syndrome, X-Linked

Enteropathy, Autoimmune, With Hemolytic Anemia And Polyendocrinopathy

Xpid

Diabetes Mellitus, Congenital Insulin-Dependent, With Fatal Secretory Diarrhea

Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome

Polyendocrinopathy, Immune Dysfunction, And Diarrhea, X-Linked

Autoimmune Enteropathy Type 1

Immunodeficiency, Polyendocrinopathy, And Enteropathy, X-Linked

Immunodeficiency, Polyendocrinopathy, And Enteropathy, X-Linked, Formerly

Immunodeficiency, Polyendocrinopathy, Enteropathy X-Linked Syndrome

Immunodysregulation, Polyendocrinopathy And Enteropathy X-Linked

Autoimmunity-Immunodeficiency Syndrome X-Linked

Iddm Secretory Diarrhea Syndrome

Polyendocrinopathy, Immune Dysfunction And Diarrhea X-Linked

Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked Syndrome

Immunodeficiency Polyendocrinopathy, Enteropathy, X-Linked Syndrome

X-Linked Autoimmunity-Immunodeficiency Syndrome

Immunodeficiency, Polyendocrinopathy, And Enteropathy X-Linked Syndrome

X-Linked Syndrome Of Polyendocrinopathy, Immune Dysfunction, And Diarrhea

Breast Cancer

Breast Carcinoma

Male Breast Cancer

Breast Cancer, Familial

Malignant Neoplasm Of Breast

Breast Cancer, Susceptibility To

Breast Cancer, Early-Onset

Malignant Tumor Of Breast

Carcinoma Of Male Breast

Breast Cancer, Invasive Ductal

Breast Cancer, Protection Against

Breast Cancer, Somatic

Breast Cancer, Male

Breast Cancer, Lobular, Somatic

Breast Tumor

Mammary Cancer

Mammary Tumor

Malignant Neoplasm Of Male Breast

Mammary Carcinoma

Male Breast Carcinoma

Familial Cancer Of Breast

Invasive Ductal Breast Carcinoma

Breast Cancer Susceptibility

Breast Cancer, Male, Susceptibility To

Breast Cancer, Early-Onset, Susceptibility To

Malignant Tumor Of The Breast

Mammary Neoplasm

Primary Breast Cancer

Neoplasm Of Male Breast

Carcinoma Of Breast

Breast Cancer In Men

Familial Breast Cancer

Cancer Of Breast

BC

Breast Cancer Familial

Breast Cancer Familial Male

Breast Cancer, Familial Male

Breast Male Carcinoma

Breast Neoplasms

Breast Neoplasms, Male

Mammary Tumors

Mammary Carcinomas

Cancer, Breast

Cancer, Breast, Susceptibility

Invasive Breast Ductal Carcinoma

Breast Neoplasm

Susceptibility To Breast Cancer

Mammary Neoplasms

Animal Mammary Neoplasms

Primary Malignant Neoplasm Of Breast

Infiltrating Ductal Carcinoma Of Breast

Infiltrating Duct Carcinoma Of Unspecified Site

Infiltrating Ductular Carcinoma Of Unspecified Site

Invasive Breast Carcinoma Of No Special Type

Microinvasive Carcinoma Of Breast

Carcinoma With Apocrine Differentiation

Fungal Infectious Disease

Mycoses

Mycosis

Immunodeficiency 44

IMD44

Lung Cancer

Lung Carcinoma

Non-Small Cell Lung Carcinoma

Lung Cancer, Susceptibility To

Lung Cancer, Protection Against

Adenocarcinoma Of Lung, Somatic

Adenocarcinoma Of Lung, Response To Tyrosine Kinase Inhibitor In

Nonsmall Cell Lung Cancer

Lung Neoplasm

Carcinoma Of Lung

Lung Non-Small Cell Carcinoma

Non-Small Cell Lung Cancer

Nsclc

Lung Neoplasms

Malignant Neoplasm Of Lung

Alveolar Cell Carcinoma

Nonsmall Cell Lung Cancer, Somatic

Nonsmall Cell Lung Cancer, Response To Tyrosine Kinase Inhibitor In

Nonsmall Cell Lung Cancer, Susceptibility To

Lung Cancer, Somatic

Lung Cancer, Resistance To

Cancer Of Lung

Cancer Of Bronchus

Cancer Of The Lung

Lung Malignancies

Lung Malignant Tumors

Malignant Lung Tumor

Malignant Tumor Of Lung

Pulmonary Cancer

Pulmonary Carcinoma

Pulmonary Neoplasms

Respiratory Carcinoma

LNCR

Adenocarcinoma Of Lung

Neoplasm Of Lung

Cancer Lung

Carcinoma Non-Small Cell Lung

Carcinoma, Non-Small-Cell Lung

Lung Cancers

Lung Carcinomas

Cancer, Lung

Cancer, Lung, Non-Small Cell

Primary Malignant Neoplasm Of Lung

Bronchioloalveolar Adenocarcinoma

Autoimmune Polyendocrine Syndrome Type 1

Whitaker Syndrome

Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy

Autoimmune Polyglandular Syndrome I

Polyglandular Type I Autoimmune Syndrome

Cervical Squamous Cell Carcinoma

Squamous Cell Carcinoma Of The Cervix Uteri

Squamous Cell Carcinoma Of Cervix

Immunodeficiency 41 With Lymphoproliferation And Autoimmunity

Cd25 Deficiency

Immunodeficiency Due To Cd25 Deficiency

IMD41

Interleukin 2 Receptor, Alpha, Deficiency Of

Il2ra Deficiency

Immunodeficiency 41

Interleukin-2 Receptor Alpha Chain Deficiency

Interleukin 2 Receptor Alpha Deficiency

Interleukin-2 Receptor, Alpha Chain, Deficiency Of

Immunodeficiency, Type 41 With Lymphoproliferation And Autoimmunity

Sting-Associated Vasculopathy With Onset In Infancy

Savi

Sting-Associated Vasculopathy, Infantile Onset

Sting-Associated Vasculopathy, Infantile-Onset

Leukemia, Chronic Myeloid

Chronic Myeloid Leukemia

Chronic Myelogenous Leukemia

CML

Chronic Granulocytic Leukemia

Leukemia, Philadelphia Chromosome-Positive, Resistant To Imatinib

Chronic Myeloid Leukaemia

Chronic Granulocytic Leukaemia

Chronic Myelogenous Leukaemia

Myeloid Leukemia, Chronic

Leukemia, Chronic Myelogenous

Leukemia, Chronic Myeloid, Philadelphia Chromosome Positive, Somatic

Cml - Chronic Myelogenous Leukemia

Cgl

Chronic Myelocytic Leukemia

Leukemia, Chronic Myeloid, Atypical

ACML

Atypical Chronic Myeloid Leukemia Bcr-Abl1 Negative

Myeloid Leukemia Chronic

Leukemia, Myeloid, Chronic

Leukemia, Myeloid, Chronic, Atypical, Bcr-Abl Negative

Cml- [Chronic Myeloid Leukaemia]

Cgl - [Chronic Granulocytic Leukaemia]

Chronic Myelocytic Leukaemia

Immunodeficiency 21

Monocytopenia And Mycobacterial Infection Syndrome

Monomac

Gata2 Deficiency

Monocytopenia With Susceptibility To Infections

Dcml

IMD21

Dendritic Cell, Monocyte, B Lymphocyte, And Natural Killer Lymphocyte Deficiency

Monocytopenia With Susceptibility To Mycobacterial, Fungal, And Papillomavirus Infections And Myelodysplasia

Combined Immunodeficiency With Susceptibility To Mycobacterial, Viral, And Fungal Infections

Combined Immunodeficiency With Susceptibility To Mycobacterial, Viral And Fungal Infections

Dendritic Cell, Monocyte, B And Nk Lymphoid Deficiency

Monocyte-B-Natural Killer-Dendritic Cell Deficiency Syndrome

Monocytopenia With Mycobacterial, Fungal, And Papillomavirus Infections And Myelodysplasia

Combined Immunodeficiency With Mycobacterial, Viral, And Fungal Infections

Monocyte - B - Natural Killer - Dendritic Cell Deficiency

Combined Immunodeficiency With Susceptibility To Mycobacterial Viral And Fungal Infections

Dendritic Cell Monocyte Lymphocyte B And Natural Killer Lymphocyte Deficiency

Monocytopenia With Susceptibility To Mycobacterial Fungal And Papillomavirus Infections And Myelodysplasia

Hyper Ige Syndrome

Hyper-Ige Syndrome

Hyper Immunoglobulin E Syndrome

Hies

Hyper-Ige Recurrent Infection Syndrome

Hyperimmunoglobulin E Syndrome

Hyper Ige

Job Syndrome

Hartnup Disease

Primary Systemic Mycosis
Asthma

Chronic Obstructive Asthma

Asthma, Diminished Response To Antileukotriene Treatment In

Bronchial Hyperreactivity

Asthma, Susceptibility To

Asthma, Bronchial

Asthma, Protection Against

Asthma, Nocturnal, Susceptibility To

Nocturnal Asthma

Asthma-Related Traits

Asthma-Related Traits, Susceptibility To

Asthma, Nocturnal

Chronic Obstructive Asthma With Acute Exacerbation

Chronic Obstructive Asthma With Status Asthmaticus

Exercise Induced Asthma

Exercise-Induced Asthma

Bronchial Asthma

Asthma, Exercise-Induced

Idiosyncratic Asthma

Unspecified Asthma With Acute Exacerbation

Asthma, Unspecified, With Stated Status Asthmaticus

Status Asthmaticus Nos

Acute Severe Asthma

Acute Severe Bronchial Asthma

Status Asthma

Status Post Asthmaticus

Mycobacterium Tuberculosis 1

Tuberculosis

Tuberculoma

Tuberculosis, Susceptibility To

Mycobacterium Tuberculosis, Susceptibility To, 1

Mtbs1

TB

B Cell Deficiency

Immunoglobulin Heavy Chain Deficiency

B Cell Deficiencies

Immunoglobulin Heavy Chain Deletion

Humoral Immune Defect

Fanconi Anemia, Complementation Group A

Fanconi Anemia

Fanconi Pancytopenia

Fanconi Anemia Complementation Group A

FANCA

Fa

Fanconi Panmyelopathy

Fanconi'S Anemia

Fanconi Anaemia

Fanconi'S Anaemia

Fanconi Hypoplastic Anemia

Estren-Dameshek Variant Of Fanconi Anemia

Estren-Dameshek Variant Of Fanconi Pancytopenia

Fanconi Anemia Estren-Dameshek Variant

Fanconis Anemia

Sarcoidosis 1

Sarcoidosis

Boeck Sarcoid

Besnier-Boeck-Schaumann Disease

SS1

Sarcoidosis, Susceptibility To, 1

Lymphogranulomatosis

Hodgkin Disease

Boeck'S Disease

Boeck'S Sarcoid

Schaumann'S Disease Or Syndrome

Hutchinson-Boeck Disease Or Syndrome

Chickenpox

Varicella

Varicella Nos

Human Immunodeficiency Virus Infectious Disease

Hiv Infections

Thrombocytopenia

Low Platelet Count

Low Platelets

Decreased Platelets

Platelet Dysfunction Nos

Rheumatoid Arthritis

RA

Arthritis, Rheumatoid

Rheumatoid Arthritis, Susceptibility To

Arthritis Or Polyarthritis, Rheumatic

Atrophic Arthritis

Rheumatism Arthritis

Rheumatoid Polyarthritis

Herpangina

Vesicular Pharyngitis

Salmonellosis

Salmonella Infections

Salmonella Infection

Coccidiosis

Intestinal Coccidiosis

Enteric Coccidiosis

Maxillary Sinus Adenocarcinoma

Adenocarcinoma Of Maxillary Sinus

Adenocarcinoma Of The Maxillary Sinus

Aicardi-Goutieres Syndrome

Aicardi Goutieres Syndrome

Cree Encephalitis

Aicardi-Goutières Syndrome

Encephalopathy With Basal Ganglia Calcification

Ags

Encephalopathy With Intracranial Calcification And Chronic Lymphocytosis Of Cerebrospinal Fluid

Pseudotoxoplasmosis Syndrome

Encephalopathy, Familial Infantile, With Calcification Of Basal Ganglia And Chronic Cerebrospinal Fluid Lymphocytosis

Familial Infantile Encephalopathy With Intracranial Calcification And Chronic Cerebrospinal Fluid Lymphocytosis

Aicardi-Goutieres Syndrome 1

Pancreatic Cancer

Pancreatic Carcinoma

Carcinoma Of Pancreas

Familial Pancreatic Carcinoma

Pancreatic Neoplasm

Pancreatic Carcinoma, Familial

Malignant Neoplasm Of Pancreas

Pancreatic Acinar Carcinoma

Pancreatic Tumor

Familial Pancreatic Cancer

Neoplasm Of The Pancreas

Cancer Of The Pancreas

Pancreatic Carcinoma, Somatic

Pancreatic Cancer, Somatic

Ca Body Of Pancreas

Ca Head Of Pancreas

Ca Tail Of Pancreas

Malignant Neoplasm Of Body Of Pancreas

Malignant Neoplasm Of Head Of Pancreas

Malignant Neoplasm Of Tail Of Pancreas

Pancreas Neoplasm

Exocrine Cancer

Exocrine Pancreas Carcinoma

Hereditary Pancreatic Cancer

Hereditary Pancreatic Carcinoma

PNCA

Pancreatic Cancer, Susceptibility To

Carcinoma Of Head Of Pancreas

Pancreatic Neoplasms

Pancreatic Tumors

Cancer, Pancreatic

Cancer Of Pancreas

Mixed Islet Cell With Exocrine Carcinoma Of Unspecified Site

Immune Deficiency Disease

Immunodeficiency

Primary Immunodeficiency

Primary Immunodeficiency Disease

Immunologic Deficiency Syndromes

Hypoimmunity

Immune Deficiency Disorder

Immunodeficiency Syndrome

Immune Disorder

Primary Immune Deficiency Disorder

Immune System Diseases

Human Immunodeficiency Virus Infection

Hiv - [Human Immunodeficiency Virus Infection]

Hiv Positive Nos

Hiv Disease

Acquired Immune Deficiency Syndrome-Related Complex

Aids-Like Syndrome

Aids-Related Complex Nos

Arc - [Aids-Related Complex]

Immunodeficiency Due To Human Immunodeficiency Virus Infection

Unspecified Human Immunodeficiency Virus Disease

Hiv Disease Nos

Human Immunodeficiency Virus Positive Nos

Hiv Nos

Deficiency Of Complement Initial Pathway

Deficiency Of Complement Terminal Pathway

Cfdd - [Complement Factor D Deficiency]

Immunodeficiency With Nk-Cell - [Natural-Killer Cell] Deficiency

Nonfamilial Hypogammaglobulinaemia

Common Variable Immune Deficiency

Nonfamilial Agammaglobulinaemia

Common Variable Agammaglobulinaemia

Agammaglobulinaemia Nos

Agammaglobulinaemia Antibody Deficiency Syndrome

Hypogammaglobulinaemia Antibody Deficiency Syndrome

Acquired Agammaglobulinaemia Nos

Hypogammaglobulinaemia Nos

Hyper Igm

Prostate Cancer

Prostate Carcinoma

Prostate Cancer, Familial

Prostate Neoplasm

Prostate Cancer, Somatic

Prostate Cancer, Susceptibility To

Prostatic Cancer

Prostatic Neoplasms

Hereditary Prostate Cancer

Prostatic Neoplasm

Cancer Of Prostate

Carcinoma Of Prostate

Familial Prostate Cancer

Familial Prostate Carcinoma

Malignant Tumor Of Prostate

Malignant Neoplasm Of Prostate

Prostate Cancer, Familial, Susceptibility To

Malignant Tumor Of The Prostate

Ngp - New Growth Of Prostate

Tumor Of The Prostate

Prostate Cancer, Hereditary

Cancer Of The Prostate

Malignant Neoplasm Of The Prostate

Prostatic Carcinoma

PC

Prca

Cancer, Prostate

Malignant Prostatic Tumour

Malignant Tumour Of Prostate

Primary Prostate Cancer

Primary Malignant Neoplasm Of Prostate

Prostate Gland Cancer

Crisponi/Cold-Induced Sweating Syndrome 2

Cold-Induced Sweating Syndrome 2

CISS2

Sweating Syndrome, Cold-Induced, Type 2

Ovarian Cancer

Ovarian Carcinoma

Ovarian Neoplasm

Malignant Tumour Of Ovary

Cancer Of The Ovary

Epithelial Ovarian Cancer

Neoplasm Of Ovary

Ovarian Neoplasms

Ovarian Cancers

Malignant Neoplasm Of Ovary

Primary Malignant Neoplasm Of Ovary

Ovarian Cancer, Somatic

Malignant Ovarian Tumor

Ovary Neoplasm

Primary Ovarian Cancer

Tumor Of The Ovary

Malignant Neoplasm Of The Ovary

Malignant Tumor Of The Ovary

Ovarian Malignant Tumor

OC

Ovarian Carcinomas

Cancer, Ovarian

Cancer Of Ovary

Ovary Cancer

Ca Ovary

Medulloblastoma

MDB

Cpnet

Localized Primitive Neuroectodermal Tumor

Classic Medulloblastoma

Medulloblastoma Predisposition Syndrome

Medulloblastoma, Somatic

Brain Medulloblastoma

Cns Pnet

Infratentorial Primitive Neuroectodermal Tumor

Neuroectodermal Tumors, Primitive

Medulloblastomas

Desmoplastic Medulloblastoma

Medulloblastoma, With Extensive Nodularity

Medulloblastoma Of Unspecified Site

Medullomyoblastoma Of Unspecified Site

Osteoporosis

Postmenopausal Osteoporosis

Osteoporosis, Postmenopausal

Bone Mineral Density Quantitative Trait Locus

Bmnd

Osteoporosis, Involutional

Osteoporosis, Susceptibility To

Osteoporosis, Postmenopausal, Susceptibility

Bone Mineral Density Variation Qtl, Osteoporosis

OSTEOP

Involutional Osteoporosis

Senile Osteoporosis

Osteoporosis Postmenopausal

Bone Mineral Density, Quantitative Trait Locus

Osteoporosis, Senile

Idiopathic Osteoporosis

Bone Rarefaction Nos

Type 1 Osteoporosis

T-Cell Acute Lymphoblastic Leukemia

T-Cell Leukemia

Acute T Cell Leukemia

Precursor T Lymphoblastic Leukemia

Precursor T-Lymphoblastic Lymphoma/Leukemia

T Acute Lymphoblastic Leukemia

T-Cell Acute Lymphocytic Leukaemia

T-Cell Lymphoblastic Leukemia/Lymphoma

Leukemia T-Cell

Leukemia, T-Cell

Leukemia, Acute, Lymphoblastic, T-Cell

Leukemia, T-Cell Acute Lymphoblastic

Leukemia, Acute T-Cell

Precursor T-Cell Lymphoblastic Leukemia-Lymphoma

Precursor T-Cell Lymphoblastic Lymphoma

Precursor T Cell Lymphoblastic Leukemia/Lymphoblastic Lymphoma

Renal Cell Carcinoma, Nonpapillary

Renal Cell Carcinoma

RCC

Nonpapillary Renal Cell Carcinoma

Clear Cell Renal Cell Carcinoma

Hypernephroma

Adenocarcinoma Of Kidney

Renal Carcinoma, Chromophobe, Somatic

Clear Cell Carcinoma Of Kidney

Clear-Cell Metastatic Renal Cell Carcinoma

Clear Cell Renal Carcinoma

Renal Cell Carcinoma, Somatic

Conventional Renal Cell Carcinoma

Conventional Renal Cell Carcinoma

Renal Clear Cell Carcinoma

Ccrcc

Hereditary Clear Cell Renal Cell Carcinoma

Carcinoma, Renal Cell

Renal Cell Carcinoma, Clear Cell, Somatic

Renal Cell Carcinoma, Clear Cell

Clear Cell Kidney Carcinoma

Clear Cell Rcc

Cystic-Multilocular Variant

Clear Cell Renal Cell Adenocarcinoma

Hereditary Clear Cell Renal Cell Adenocarcinoma

Common Renal Cell Carcinoma

Crcc

Renal Cell Carcinoma Non-Papillary

Carcinoma Renal Cell

Renal Cell Cancer

Carcinoma, Renal Cell, Nonpapillary

Cystic Fibrosis

Mucoviscidosis

CF

Pseudomonas Aeruginosa, Susceptibility To Chronic Infection By, In Cystic Fibrosis

Pseudomonas Aeruginosa Chronic Infection By, In Cystic Fibrosis

Cystic Fibrosis Lung Disease, Modifier Of

Cystic Fibrosis Of Pancreas

Fibrocystic Disease Of Pancreas

Cf - [Cystic Fibrosis]

Cystic Fibrosis Nos

Fibrocystic Disease

Fibrocystic Disease Of The Pancreas

Mucoviscidosis Of Pancreas

Nonproliferative Fibrocystic Disease

Pancreatic Cystic Fibrosis

Potocki-Shaffer Syndrome

Proximal 11p Deletion Syndrome

Chromosome 11p11.2 Deletion Syndrome

Pss

11p11.2 Deletion

P11pds

Defect11 Syndrome

Deletion Of Chromosome 11p11.2

POSHS

Leukemia, Chronic Lymphocytic

Chronic Lymphocytic Leukemia

B-Cell Chronic Lymphocytic Leukemia

CLL

B-Cell Chronic Lymphoid Leukemia

Chronic Lymphatic Leukemia

Chronic Lymphocytic Leukaemia

Lymphoplasmacytic Leukemia

Small Lymphocytic Lymphoma

Leukemia, Chronic Lymphatic

B-Cell Chronic Lymphocytic Leukaemia

Chronic Lymphatic Leukaemia

Lymphoplasmacytic Leukaemia

B Cell Chronic Lymphocytic Leukemia

Chronic B-Cell Lymphocytic Leukemia

Leukemia, Lymphocytic, Chronic

B-Cll

Chronic Lymphoid Leukemia

Leukemia Lymphocytic Chronic

Lymphoma Small Lymphocytic

Leukemia, Lymphocytic, Chronic, B-Cell

Omenn Syndrome

Histiocytic Medullary Reticulosis

Severe Combined Immunodeficiency With Hypereosinophilia

Combined Immunodeficiency With Hypereosinophilia

Reticuloendotheliosis, Familial, With Eosinophilia

Reticuloendotheliosis Familial With Eosinophilia

Familial Reticuloendotheliosis

Omenn'S Syndrome

OS

Malignant Histiocytosis

Essential Thrombocythemia

Essential Thrombocytosis

Familial Thrombocytosis

Hemorrhagic Thrombocythemia

Hereditary Thrombocythemia

Primary Thrombocytosis

Idiopathic Thrombocythemia

Primary Thrombocythemia

Thrombocythemia, Essential

Essential Thrombocythaemia

Et

Familial Thrombocythemia

Thrombocythemia Essential

Myeloma, Multiple

Multiple Myeloma

Plasma Cell Myeloma

Kahler Disease

Myelomatosis

Medullary Plasmacytoma

Multiple Myeloma, Resistance To

Myeloma

Plasma Cell Dyscrasia

Kahler'S Disease

Multiple Myeloma, Susceptibility To

Myeloma - Multiple

Kahler-Bozzolo Disease

Plasma Cell Myelomas

MM

Plasma Cell Neoplasm

Primary Systemic Amyloidosis

Primary Amyloidosis

Immunoglobulin Deposition Disease

Plasmacytic Myeloma

Multiple Myelomata

Multiple Myeloma Nos

Multiple Myeloma Without Mention Of Remission

Monostotic Plasma Cell Myeloma

Mm - [Multiple Myeloma]

Autoimmune Lymphoproliferative Syndrome

ALPS

Canale-Smith Syndrome

Autoimmune Lymphoproliferative Syndrome, Type Ia

Autoimmune Lymphoproliferative Syndrome, Type Ib

Autoimmune Lymphoproliferative Syndrome Type 1, Autosomal Dominant

Css

Autoimmune Lymphoproliferative Syndrome, Type 1b

Autoimmune Lymphoproliferative Syndrome, Type 1a

Autoimmune Lymphoproliferative Syndrome, Type I, Autosomal Dominant

Fas Deficiency

Autoimmune Lymphoproliferative Syndrome 1a

ALPS1A

Autoimmune Lymphoproliferative Syndrome Type Ia

Autoimmune Lymphoproliferative Syndrome 1b

ALPS1B

Autoimmune Lymphoproliferative Syndrome Type Ib

Severe Combined Immunodeficiency

Scid

Severe Combined Immunodeficiency Disease

Combined T And B Cell Inborn Immunodeficiency

Immunodeficiency, Severe Combined

Scid - [Severe Combined Immunodeficiencies]

Body Mass Index Quantitative Trait Locus 11

OBESITY

Obesity, Susceptibility To

Leanness, Inherited

Obesity, Susceptibility To, Bmiq11

Obesity, Mild, Early-Onset

Obesity, Association With

Obesity, Early-Onset, Susceptibility To

Obesity, Severe

Obesity, Severe, And Type Ii Diabetes

Obesity, Late-Onset

Obesity , Susceptibility To

BMIQ11

Obesity Bmiq11

Obesity, Early-Onset

Simple Obesity Nos

Excess Fat

Obesity, Not Elsewhere Classified, Body Mass Index Not Elsewhere Classified

Adiposis

Skin Disease

Skin Diseases

Genodermatosis

Abnormality Of The Skin

Skin Diseases, Genetic

Skin And Subcutaneous Tissue Disease

Dermatologic Disorders

Alzheimer Disease, Familial, 1

Alzheimer Disease

Alzheimer'S Disease

Presenile And Senile Dementia

AD1

Alzheimer Disease, Susceptibility To

Alzheimer Disease, Late-Onset, Susceptibility To

Alzheimer Disease 1, Familial

AD

Familial Alzheimer Disease

Alzheimer Disease, Late-Onset

Alzheimers Dementia

Alzheimer Dementia

Alzheimer Sclerosis

Alzheimer Syndrome

Alzheimer-Type Dementia

Dat

Primary Senile Degenerative Dementia

Sdat

Alzheimer Disease 1

Autosomal Dominant Alzheimer Disease

Early-Onset Alzheimer Disease With Cerebral Amyloid Angiopathy

Late Onset Alzheimer Disease

Alzheimers Disease

Alzheimer Disease, Early-Onset, With Cerebral Amyloid Angiopathy

Late-Onset Alzheimers Disease

Alzheimer'S Disease Pathway Kegg

Dementia Due To Alzheimer'S Disease

Alzheimer Disease Type 1

Alzheimers

Behcet Syndrome

Behcet Disease

Behcet'S Syndrome

Behcet'S Disease

Behçet Disease

Bd

Adamantiades-Behcet Disease

Triple Symptom Complex

Behçet'S Disease

Behet'S Syndrome

Bd Syndrome

Behçet Syndrome

Behçet'S Syndrome

Behcet Triple Symptom Complex

Malignant Aphthosis

Old Silk Route Disease

Adamantiades-Behçet Disease

Type 2 Diabetes Mellitus

Insulin Resistance

NIDDM

Type 2 Diabetes

Diabetes Mellitus, Non-Insulin-Dependent

T2D

Noninsulin-Dependent Diabetes Mellitus

Diabetes Mellitus, Type Ii

Maturity-Onset Diabetes

Insulin Resistance, Severe, Digenic

Diabetes Mellitus, Type 2

Diabetes Mellitus, Noninsulin-Dependent

Diabetes Mellitus, Noninsulin-Dependent, Association With

Diabetes Mellitus, Noninsulin-Dependent, Late Onset

Hypertension, Insulin Resistance-Related, Susceptibility To

Insulin Resistance, Susceptibility To

Non-Insulin-Dependent Diabetes Mellitus

Type Ii Diabetes Mellitus

Adult-Onset Diabetes Mellitus

Maturity-Onset Diabetes Mellitus

Diabetes Mellitus Type 2

Type Ii Diabetes

Type 2 Diabetes Mellitus, Susceptibility To

Diabetes, Type 2

Diabetes Mellitus, Noninsulin-Dependent, Susceptibility To

Diabetes Mellitus, Non-Insulin-Dependent, Susceptibility To

Diabetes Mellitus, Type 2, Susceptibility To

Diabetes Mellitus, Noninsulin-Dependent, 2

Diabetes Mellitus, Type Ii, Susceptibility To

Hypertension, Insulin Resistance-Related

Adult-Onset Diabetes

Aodm

Diabetes Mellitus, Adult-Onset

Diabetes Mellitus Type Ii

Diabetes Mellitus Type 2, Susceptibility To

Diabetes, Type Ii, Susceptibility To

Diabetes Type 2

Diabetes Mellitus

Adult Onset Diabetes

Maturity Onset Diabetes

Nonketotic Diabetes

Non-Insulin Dependent Diabetes Mellitus

T2dm - [Type 2 Diabetes Mellitus]

Niddm - [Non Insulin Dependent Diabetes Mellitus]

Dm2

Dm Type Ii

Diabetic Type 2

Insulin Requiring Type 2 Diabetes

Noninsulin Dependent Diabetes

Non-Insulin-Dependent Diabetes Mellitus Without Complications

Diabetes Due To Insulin Secretory Defect

Diabetes Mellitus Due To Insulin Secretory Defect

Non-Insulin-Dependent Diabetes Of The Young

Senile Diabetes

Nonketotic Hyperglycaemia

Stable Diabetes

Celiac Disease 1

Celiac Disease

Coeliac Disease

Celiac Sprue

Celiac Disease, Susceptibility To

Gluten-Sensitive Enteropathy

Nontropical Sprue

Sprue

CELIAC1

Celiac Disease, Susceptibility To, 1

Celiac Sprue 1

Celiac Sprue, Susceptibility To, 1

Gluten-Sensitive Enteropathy 1

Gluten-Sensitive Enteropathy, Susceptibility To, 1

Idiopathic Steatorrhea

Cœliac Disease

Gluten Intolerance

Gluten-Induced Enteropathy

Gluten Enteropathy

Celiac Disease, Susceptibility To, Type 1

Childhood Celiac Disease

Coeliac Rickets

Gee Disease

Gee-Herter Disease

Heubner-Herter Disease

Idiopathic Steatorrhoea

Thaysen'S Disease

Herter Gee Syndrome

Connective Tissue Disease

Connective Tissue Diseases

Connective Tissue Disorder

Abnormality Of Connective Tissue

Disorder Of Connective Tissue

Connective Tissue Disorders

Leukemia, Acute Myeloid

Acute Myeloid Leukemia

Leukemia, Acute Myelogenous

Acute Myelogenous Leukemia

AML

Leukemia, Acute Myeloid, Susceptibility To

Acute Myeloblastic Leukemia

Leukemia, Acute Myeloid, Reduced Survival In, Somatic

Acute Myeloid Leukaemia

Leukemia, Myelocytic, Acute

Therapy Related Acute Myeloid Leukemia And Myelodysplastic Syndrome

Secondary Aml

Acute Myelocytic Leukemia

Acute Myeloid Leukemia, Somatic

Leukemia, Acute Myeloid, Somatic

Myeloid Leukemia, Acute, M4/M4eo Subtype, Somatic

Acute Myeloblastic Leukaemia

Acute Myelogenous Leukaemia

Aml - Acute Myeloid Leukemia

Acute Myeloid Leukemia With Cebpa Somatic Mutations

Aml With Cebpa Somatic Mutations

Inherited Acute Myeloid Leukemia

Familial Aml

Inherited Aml

Pure Familial Aml

Pure Familial Acute Myeloid Leukemia

Secondary Acute Myeloid Leukemia

Therapy-Related Aml And Myelodysplastic Syndrome

Acute Myeloid Leukemia, Secondary

Acute Non-Lymphoblastic Leukemia

Acute Non-Lymphocytic Leukemia

Acute Biphenotypic Leukemia

Acute Undifferentiated Leukemia

Acute Myeloblastic Leukaemia With Multilineage Dysplasia

Acute Myeloid Leukaemia With Multilineage Dysplasia Without Mention Of Remission

Acute Myeloid Leukaemia With Myelodysplasia-Related Features

Nervous System Disease

Abnormality Of The Nervous System

Nervous System Diseases

Nervous System Disorder

Eye Disease

Eye Diseases

Abnormality Of The Eye

Toxoplasma Oculopathy

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Bos taurus STAT1 VGNC VGNC:56151
Rattus norvegicus STAT1 RGD RGD:3771
Macaca mulatta STAT1 VGNC VGNC:77904
Felis catus STAT1 VGNC VGNC:65759
Mus musculus STAT1 MGD MGI:103063
Others STAT1 NCBI