IFIH1 - interferon induced with helicase C domain 1 Gene

Also Known as AGS7; Hlcd; MDA5; IMD95; MDA-5; RLR-2; IDDM19; SGMRT1

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 64135

About IFIH1

Cytogenetic location: 2q24.2 Genomic coordinates (GRCh38): 2:162,267,074-162,318,684 (from NCBI)

This gene has 8 transcripts (splice variants), 231 orthologues, 2 paralogues and is associated with 8 phenotypes. Ubiquitous expression in spleen (RPKM 10.9), appendix (RPKM 9.9) and 25 other tissues.

Summary

IFIH1 encodes MDA5 which is an intracellular sensor of viral RNA that triggers the innate immune response. Sensing RNA length and secondary structure, MDA5 binds dsRNA oligonucleotides with a modified DExD/H-box helicase core and a C-terminal domain, thus leading to a proinflammatory response that includes interferons. It has been shown that Coronaviruses (CoVs) as well as various Other virus families, are capable of evading the MDA5-dependent interferon response, thus impeding the activation of the innate immune response to Infection. MDA5 has also been shown to play an important role in enhancing natural killer cell function in malaria Infection. In addition to its protective role in Antiviral responses, MDA5 has been implicated in autoimmune and autoinflammatory diseases such as type 1 diabetes, systemic lupus erythematosus, and Aicardi-Goutieres syndrome[provided by RefSeq, Jul 2020]

IFIH1 Products (1)

mRNA Protein Name
NM_022168.4 NP_071451.2 interferon-induced helicase C domain-containing protein 1
Molecular Function GO Annotation Evidence References Source
enables ATP hydrolysis activity IMP
IMP: Inferred from mutant phenotype
19211564 GOA
enables RNA binding IDA
IDA: Inferred from direct assay
33727702 GOA
enables RNA helicase activity IMP
IMP: Inferred from mutant phenotype
19211564 GOA
enables double-stranded RNA binding IDA
IDA: Inferred from direct assay
19656871 GOA
enables identical protein binding IDA
IDA: Inferred from direct assay
23090998 GOA
enables identical protein binding IPI
IPI: Inferred from physical interaction
22160685 GOA
enables pattern recognition receptor activity IDA
IDA: Inferred from direct assay
21217758 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
16127453 GOA
enables ribonucleoprotein complex binding IPI
IPI: Inferred from physical interaction
19881509 GOA
enables single-stranded RNA binding IDA
IDA: Inferred from direct assay
19656871 GOA
enables zinc ion binding IDA
IDA: Inferred from direct assay
19380577 GOA
Biological Process GO Annotation Evidence References Source
involved in MDA-5 signaling pathway IDA
IDA: Inferred from direct assay
17600090 GOA
involved in MDA-5 signaling pathway IMP
IMP: Inferred from mutant phenotype
19211564 GOA
involved in cellular response to exogenous dsRNA IMP
IMP: Inferred from mutant phenotype
21957149 GOA
involved in cellular response to virus IEP
IEP: Inferred from expression pattern
28146100 GOA
involved in defense response to virus IDA
IDA: Inferred from direct assay
21478870 GOA
involved in negative regulation of viral genome replication IDA
IDA: Inferred from direct assay
33727702 GOA
involved in positive regulation of interferon-alpha production IMP
IMP: Inferred from mutant phenotype
19656871 GOA
involved in positive regulation of interferon-beta production IDA
IDA: Inferred from direct assay
17600090 GOA
involved in positive regulation of interferon-beta production IMP
IMP: Inferred from mutant phenotype
19656871 GOA
involved in positive regulation of interleukin-6 production IMP
IMP: Inferred from mutant phenotype
21957149 GOA
involved in positive regulation of response to cytokine stimulus IMP
IMP: Inferred from mutant phenotype
21957149 GOA
involved in positive regulation of tumor necrosis factor production IMP
IMP: Inferred from mutant phenotype
21957149 GOA
involved in protein sumoylation IDA
IDA: Inferred from direct assay
21156324 GOA
involved in response to virus IDA
IDA: Inferred from direct assay
33727702 GOA
Cellular Component GO Annotation Evidence References Source
is active in cytoplasm IDA
IDA: Inferred from direct assay
11805321 GOA
located in cytoplasm IDA
IDA: Inferred from direct assay
33727702 GOA
located in mitochondrion IDA
IDA: Inferred from direct assay
33727702 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

IFIH1 Protein Structure

CARD

CARD: Caspase recruitment domain (116 - 199)

ResIII

ResIII: Type III restriction enzyme, res subunit (306 - 491)

Helicase_C

Helicase_C: Helicase conserved C-terminal domain (765 - 824)

RIG-I_C-RD

RIG-I_C-RD: C-terminal domain of RIG-I (903 - 1019)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 1025 a.a.
Protein Preferred Names Protein Names

interferon-induced helicase C domain-containing protein 1

  • CADM-140 autoantigen

IFIH1 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
IFIH1 Q9BYX4 MAVS Homo sapiens Q7Z434-1 17600090
Intra
IFIH1 Q9BYX4 MAVS Homo sapiens Q7Z434-1 19416887
Cross
IFIH1 Q9BYX4 P0DTD1-PRO_0000449621 SARS-CoV-2 P0DTD1-PRO_0000449621 33727702
Cross
IFIH1 Q9BYX4 P0DTD1-PRO_0000449621 SARS-CoV-2 P0DTD1-PRO_0000449621 33727702
Intra
IFIH1 Q9BYX4 IKBKE Homo sapiens Q14164 17600090
Cross
IFIH1 Q9BYX4 P/V measles virus P0C774 33727702
Cross
IFIH1 Q9BYX4 P/V measles virus P0C774 23328395
Intra
IFIH1 Q9BYX4 TKFC Homo sapiens Q3LXA3
Y2H
17600090
Intra
IFIH1 Q9BYX4 TKFC Homo sapiens Q3LXA3 17600090
Intra
IFIH1 Q9BYX4 TKFC Homo sapiens Q3LXA3 17600090
Intra
IFIH1 Q9BYX4 ISG15 Homo sapiens P05161 33727702
Intra
IFIH1 Q9BYX4 MAVS Homo sapiens Q7Z434 22623778
Intra
IFIH1 Q9BYX4 IFIH1 Homo sapiens Q9BYX4
TEM
22160685
Intra
IFIH1 Q9BYX4 ISG15 Homo sapiens P05161 33727702
Intra
IFIH1 Q9BYX4 IFIH1 Homo sapiens Q9BYX4 25865883
Intra
IFIH1 Q9BYX4 IFIH1 Homo sapiens Q9BYX4
GMS
22160685
Intra
IFIH1 Q9BYX4 MAVS Homo sapiens Q7Z434 22301138
Intra
IFIH1 Q9BYX4 MAVS Homo sapiens Q7Z434 21903422
Intra
IFIH1 Q9BYX4 IFIH1 Homo sapiens Q9BYX4 22160685
Intra
IFIH1 Q9BYX4 ISG15 Homo sapiens P05161 33727702
Intra
IFIH1 Q9BYX4 IFIH1 Homo sapiens Q9BYX4 22160685
Intra
IFIH1 Q9BYX4 KEAP1 Homo sapiens Q14145 32296183
Intra
IFIH1 Q9BYX4 KEAP1 Homo sapiens Q14145 32296183
Cross
IFIH1 Q9BYX4 P/V Simian virus 5 P11207 19403670
Cross
IFIH1 Q9BYX4 US11 Human herpesvirus 1 P04487 22301138
Cross
IFIH1 Q9BYX4 US11 Human herpesvirus 1 P04487 22301138
Cross
IFIH1 Q9BYX4 P/V Measles virus Q9EMA9 19403670
Cross
IFIH1 Q9BYX4 P/V Mumps virus P30927 19403670
Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant IFIH1 Proteins

Cat. No. 상품명 Accession Purity
HY-P71641 IFIH1 Protein, Human (His) Q9BYX4 (K700-D1025) ≥ 95%, as determined by reducing SDS-PAGE.

IFIH1 Antibodies

Cat. No. 상품명 신청 Reactivity
HY-P82654 MDA5 Antibody (YA2399) WB, ICC/IF Human

Related Diseases

Diseases Alias
Singleton-Merten Syndrome 1
  • SGMRT1

  • Singleton-Merten Syndrome, Type 1

Aicardi-Goutieres Syndrome 7
  • AGS7

  • Aicardi-Goutieres Syndrome, Type 7

Immunodeficiency 95
  • IMD95

Singleton-Merten Syndrome
  • Singleton-Merten Dysplasia

  • Widened Medullary Cavities Of Bone, Aortic Calcification, Abnormal Dentition, And Muscular Weakness

  • Singleton Merten Syndrome

  • Merten-Singleton Syndrome

  • Sm Syndrome

  • Syndrome Of Widened Medullary Cavities Of The Metacarpals And Phalanges, Aortic Calcification And Abnormal Dentition

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

Type 1 Diabetes Mellitus 19
  • Diabetes Mellitus, Insulin-Dependent, 19

  • IDDM19

  • T1D19

  • Insulin-Dependent Diabetes Mellitus 19

Basal Ganglia Disease
  • Basal Ganglia Diseases

  • Basal Ganglia Disorders

  • Abnormality Of The Basal Ganglia

Multisystem Inflammatory Syndrome In Children
  • Mis-C

  • Multisystem Inflammatory Disorder In Children And Adolescents

  • Paediatric Inflammatory Multisystemic Syndrome

  • Mic

Interstitial Lung Disease
  • Ild

  • Lung Diseases, Interstitial

  • Lung Diseases Interstitial

  • Interstitial Lung Diseases

Myositis
  • Idiopathic Inflammatory Myopathy

  • Idiopathic Inflammatory Myositis

  • Iim

  • Imm

  • Idiopathic Inflammatory Myopathies

  • Myopathy, Familial Idiopathic Inflammatory

  • Inflammatory Disorder Of Muscle

  • Idiopathic Inflammatory Myopathy, Familial

  • Inflammatory Myopathy, Idiopathic

  • Myopathies Idiopathic Inflammatory

  • Familial Idiopathic Inflammatory Myopathy

Lung Disease
  • Lung Diseases

  • Disorder Of Lung

  • Abnormality Of The Lung

Hand, Foot And Mouth Disease
  • Vesicular Stomatitis And Exanthem

Dermatomyositis
  • Amyopathic Dermatomyositis

  • Dermatopolymyositis

  • Adult Dermatomyositis

  • Polymyositis With Skin Involvement

  • Adult Type Dermatomyositis

  • Petges-Clejat Syndrome

Measles
  • Rubeola

  • Morbilli

  • Measles Nos

  • Koplik Spots

Viral Infectious Disease
  • Viral Disease

  • Arbovirus Infections

  • Virus Infection

  • Virus Diseases

  • Viral Infection

  • Viral Infections

  • Virus Infections

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

Antisynthetase Syndrome
  • As Syndrome

  • Anti-Jo1 Syndrome

Malaria
  • Malaria, Susceptibility To

  • Malaria, Resistance To

  • Malaria, Cerebral

  • Cerebral Malaria

  • Malaria, Severe, Susceptibility To

  • Malaria, Severe, Resistance To

  • Malaria, Cerebral, Susceptibility To

  • Induced Malaria

  • Malaria, Vivax, Protection Against

  • Malaria, Severe

  • Malaria, Cerebral, Reduced Risk Of

  • Malaria, Protection Against

  • Resistance To Malaria Due To G6pd Deficiency

  • Malaria Due To G6pd Deficiency

  • Malarial Encephalitis

  • CM

  • Malaria Cerebral

  • Susceptibility To Malaria

  • Acute Pernicious Fever

  • Aestivo-Autumnal Fever

  • Aestivo Autumnal Malaria

  • Chagres Fever

  • Continued Malaria Fever

  • Estivo-Autumnal Fever

  • Estivo-Autumnal Malaria

  • Estivo-Autumnal Malarial Fever

  • Falciparum Fever

  • Malignant Tertian Fever

  • Malignant Tertian Malaria

  • Pernicious Intermittent Fever

  • Pernicious Malaria

  • Quotidian Malaria

  • Subtertian Fever

  • Subtertian Malaria Fever

  • Subtertian Malignant Tertian Malaria

  • Tropical Malaria

  • Algid Malaria

  • Bilious Haemoglobinuric Fever

  • Black Water Fever

  • Blackwater Fever

  • Malarial Blackwater Fever

  • Severe Malarial Falciparum

  • West African Fever

  • Malarial Haematinuria

  • Haemoglobinuric Fever

  • Haemoglobinuric Malaria

  • Severe Plasmodium Falciparum Malaria

  • Malarial Haemoglobinuria

  • Malarial Haematuria

  • Falciparum Malaria [Malignant Tertian]

  • Malaria Tropica

  • Malarial Shock

  • Chagres Virus Disease

  • Malignant Malaria

  • Mtm - [Malignant Tertian Malaria]

  • Tm -[Malignant Tertian Malaria]

  • Panama Fever

  • St - [Subtertian Malaria]

  • Malarial Quotidian

  • Benign Tertian Malaria

  • Tertian Ague

  • Vivax Fever

  • Plasmodium Vivax Malaria Nos

  • Btm - [Benign Tertian Malaria]

  • Bt - [Benign Tertian Malaria]

  • Vivax Malaria

  • Benign Tertian Vivax Malaria

  • Tertian Malaria

  • Quartan Malaria

  • Quartan Ague

  • Quartan Fever

  • Plasmodium Malariae Malaria Nos

  • Quartan Malarial

  • Malaria By Plasmodium Malariae

  • Malariae Malaria

  • Ovale Tertian Malaria

  • Plasmodium Ovale Fever

  • Malaria Fever By Plasmodium Ovale

  • Ovale Malaria

  • Malaria By Plasmodium Ovale

  • Malarial Ovale

  • Marsh Fever

  • Remittent Congestive Fever

  • Coastal Fever

  • Remittent Gastric Fever

  • Miasmatic Fever

  • Congestive Remittent Fever

  • Intermittent Fever

  • Jungle Fever

  • Paludism

  • Cameroon Fever

  • Ague

  • Corsican Fever

  • Intermittent Bilious Fever

  • Disease Due To Plasmodiidae

  • Malarial Fever

  • Plasmodiosis

  • Remittent Fever

  • Roman Fever

  • Malaria Fever Nos

  • Malaria Nos

  • Paludal Fever

  • Clinically Diagnosed Malaria

  • Clinically Diagnosed Malaria Without Parasitological Confirmation

  • Congestive Fever

  • Malarial Cachexia

  • Marsh Cachexia

  • Paludal Cachexia

  • Recurrent Malaria

  • Remittent Malaria

Dengue Virus
  • Dengue Virus, Susceptibility To

  • Dengue Fever, Protection Against

  • Dengue Fever

Lupus Erythematosus
  • Lupus

  • Lupus Vulgaris

  • Lupus Erythematosus, Discoid

  • Lupus Erythematosus, Systemic

  • Subacute Cutaneous Lupus

  • Le - [Lupus Erythematosus]

West Nile Virus
  • West Nile Virus, Susceptibility To

  • Wnv

  • Wnv, Susceptibility To

  • West Nile Viral Infection

  • Encephalitis, West Nile Fever

  • West Nile Fever

Herpes Simplex
  • Herpes Simplex Infections

  • Herpesvirus Hominis Disease

  • Herpes Simplex Disease

  • Herpesviral Infection Due To Herpes Simplex

  • Infections Due To Simplex Virus

  • Herpes Nos

Subacute Sclerosing Panencephalitis
  • SSPE

  • Dawson Encephalitis

  • Immunosuppressive Measles Encephalitis

  • Subacute Sclerosing Leukoencephalitis

  • Panencephalitis, Subacute Sclerosing

  • Subacute Sclerosing Leukoencephalopathy

  • Van Bogaert'S Sclerosing Leukoencephalitis

  • Dawson Disease

  • Subacute Inclusion Body Encephalitis

  • Van Bogaert Disease

  • Van Bogaert Encephalitis

  • Measles Inclusion Body Encephalitis

  • Mibe - [Measles Inclusion Body Encephalitis]

  • Sspe - [Subacute Sclerosing Panencephalitis]

  • Van Bogaert Leukoencephalitis

  • Van Bogaert Sclerosing Leukoencephalitis

  • Dawson Inclusion Body Encephalitis

  • Van Bogaert Sclerosing Leukoencephalopathy

  • Bodechtel Guttman Disease

  • Diffuse Sclerosing Encephalitis

Hepatitis C
  • Chronic Hepatitis C

  • Hepatitis C Infection

  • Hepatitis Nona Nonb

  • Nanbh

  • Viral Hepatitis C

  • Hepatitis C Chronic

  • Hepatitis C, Chronic

  • Chronic Type C Viral Hepatitis

  • Chronic Hcv - [Hepatitis C Virus] Infection

  • Hepatitis C Nos

  • Hepatitis C Infection Nos

  • Hepatitis C-Related Cirrhosis

  • Type C Viral Hepatitis

  • Hep C Nos

Lymphoid Interstitial Pneumonia
  • Lymphocytic Interstitial Pneumonia

  • Lip Disease

  • Lip Diseases

  • LIP

  • Disease Of Lips

Adult Dermatomyositis
  • Adult Onset Dermatomyositis

  • Adult Type Dermatomyositis

Acute Interstitial Pneumonia
  • Acute Interstitial Pneumonitis

  • Hamman-Rich Syndrome

  • Accelerated Interstitial Pneumonia

  • Aip

  • Hamman-Rich Disease

  • Idiopathic Pulmonary Fibrosis, Acute Fatal Form

  • Idiopathic Pulmonary Fibrosis

Childhood Type Dermatomyositis
  • Juvenile Dermatomyositis

  • Juvenile Dm

  • Childhood Dermatomyositis

  • Amyopathic Dermatomyositis

  • Adm

  • Dermatomyositis Sine Myositis

  • Dermatomyositis, Childhood Type

Mouth Disease
  • Mouth Diseases

  • Mouth Disorders

Severe Acute Respiratory Syndrome
  • Sars

  • Sars-Cov Infection

  • Sars-1

  • Sar Deficiency

  • Sars - [Severe Acute Respiratory Syndrome]

Nonspecific Interstitial Pneumonia
  • Nsip

  • Non-Specific Interstitial Pneumonia

  • Non-Specific Idiopathic Interstitial Pneumonia

  • Non-Specific Interstitial Pneumonia Nos

Chikungunya
  • Chikungunya Fever

  • Arbovirus A Chikungunya Type

  • Chik

  • Chikv Infection

  • Ck

  • Chikungunya Virus Infection

  • Chikungunya Haemorrhagic Fever

  • Chikungunya Viral Disease

  • Chikungunya Mosquito-Borne Viral Fever

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

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]

Melanoma
  • Malignant Melanoma

  • Cutaneous Melanoma

  • Naevocarcinoma

  • Malignant Melanomas

Psoriasis
Idiopathic Interstitial Pneumonia
  • Hamman-Rich Syndrome

  • Diffuse Idiopathic Pulmonary Fibrosis

  • Idiopathic Fibrosing Alveolitis

  • Ipf

  • Idiopathic Interstitial Pneumonias

  • Idiopathic Interstitial Pneumonia, Not Otherwise Specified

  • Pulmonary Fibrosis

Diabetes Mellitus
  • Diabetes

Stomatitis
Immunodeficiency 15a
  • IMD15A

Systemic Scleroderma
  • Scleroderma

  • Progressive Systemic Sclerosis

  • Systemic Sclerosis

  • Scleroderma, Systemic

  • Scleroderma Syndrome

  • Dermatosclerosis

  • Familial Progressive Scleroderma

  • Progressive Scleroderma

  • Scleroderma Disease

  • Scleroderma, Localized

  • Diffuse Scleroderma

  • Scleroderma, Familial Progressive

Sting-Associated Vasculopathy With Onset In Infancy
  • Savi

  • Sting-Associated Vasculopathy, Infantile Onset

  • Sting-Associated Vasculopathy, Infantile-Onset

Chilblain Lupus 1
  • Chilblain Lupus

  • CHBL1

  • Chilblain Lupus Erythematosus

  • Chle

  • Hutchinson Lupus

  • Chilblain Lupus, Type 1

Avian Influenza
  • Bird Flu

  • Influenza In Birds

  • Avian Flu

Palmoplantar Keratoderma, Punctate Type Iii
  • Acrokeratoelastoidosis Of Costa

  • Ake

  • Punctate Palmoplantar Keratoderma Type Iii

  • PPKP3

  • Keratoderma, Palmoplantar, Punctate Type 3

  • Punctate Palmoplantar Hyperkeratosis Type 3

  • Punctate Palmoplantar Keratoderma Type 3

  • Rare Form Of Hirschsprung'S Disease

  • Acrokeratoelastoidosis

  • Collagenous Plaques Of Hands And Feet

  • Aganglionosis, Total Intestinal

  • Collagenous Plaques Of Hand And Feet

  • Palmoplantar Keratoderma, Punctate Type 3

  • Aganglionosis, Total Colonic

  • Ntia

  • Near-Total Intestinal Aganglionosis

  • Tia

Myocarditis
  • Myocardial Inflammation

  • Inflammatory Cardiomyopathy

Paralytic Poliomyelitis
  • Poliomyelitis, Paralytic

Renal Pelvis Squamous Cell Carcinoma
  • Epidermoid Carcinoma Of The Kidney Pelvis

  • Squamous Cell Carcinoma Of Renal Pelvis

Exanthem
  • Exanthema

  • Rash

  • Rashes

Lassa Fever
  • Lf

  • Lassa Hemorrhagic Fever

  • Lf - [Lassa Fever]

Cutaneous Lupus Erythematosus
  • Lupus Erythematosus, Cutaneous

  • Lupus Erythematosus Cutaneous

Dyschromatosis Symmetrica Hereditaria
  • Dyschromatosis Symmetrica Hereditaria 1

  • Reticulate Acropigmentation Of Dohi

  • DSH

  • Dsh1

  • Symmetric Dyschromatosis Of The Extremities

  • Rad

  • Familial Reticulate Acropigmentation Of Dohi

  • Acropigmentation Of Dohi

  • Symmetrical Dyschromatosis Of Extremities

Torch Syndrome
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations
  • Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations

  • Crv

  • Rvcl

  • Rvcl-S

  • Vasculopathy, Retinal, With Cerebral Leukodystrophy

  • Retinopathy, Vascular, With Cerebral And Renal Involvement And Raynaud And Migraine Phenomena

  • Retinal Vasculopathy With Cerebral Leukodystrophy

  • Retinal Vasculopathy And Cerebral Leukoencephalopathy

  • Hereditary Vascular Retinopathy

  • Hvr

  • RVCLS

  • Cerebroretinal Vasculopathy, Hereditary

  • Cerebroretinal Vasculopathy

  • Herns

  • Vasculopathy, Retinal, With Cerebral Leukodystrophy, Formerly

  • Hereditary Cerebroretinal Vasculopathy

  • Hereditary Endotheliopathy, Retinopathy, Nephropathy, Stroke

  • Hereditary Systemic Angiopathy

  • Hsa

  • Retinal Vasculopathy With Cerebral Leukodystrophy With Systemic Manifestations

  • Adrvcl

  • Autosomal Dominant Retinal Vasculopathy With Cerebral Leukodystrophy

  • Hereditary Endotheliopathy With Retinopathy-Nephropathy-Stroke

  • Vascular Retinopathy With Cerebral And Renal Involvement And Raynaud And Migraine Phenomena

Cryptogenic Organizing Pneumonia
  • Bronchiolitis Obliterans Organizing Pneumonia

  • Boop

  • Constrictive Bronchiolitis

  • Cryptogenic Organizing Pneumonitis

  • Cop

  • Bronchiolitis Obliterans Organising Pneumonia

  • Cryptogenic Organising Pneumonia

  • Cryptogenic Organising Pneumonitis

  • Idiopathic Bronchiolitis Obliterans With Organising Pneumonia

  • Idiopathic Bronchiolitis Obliterans With Organizing Pneumonia

  • Organizing Pneumonia

  • Idiopathic Boop

  • Idiopathic Bronchiolitis Obliterans Organizing Pneumonia

  • Organized Pneumonia

Basal Ganglia Calcification
  • Fahr'S Syndrome

  • Fahr'S Disease

  • Fahr Disease

Ebola Hemorrhagic Fever
  • Ebola Virus Disease

  • Viral Hemorrhagic Fever

  • Hemorrhagic Fever, Ebola

  • Ebola

  • Ehf

  • Ebola Fever

  • Hemorrhagic Fevers, Viral

  • Ebola Haemorrhagic Fever

  • Ebod - [Ebola Disease]

  • Evd - [Ebola Virus Disease]

  • Ebola Virus Haemorrhagic Fever

  • Vhf - [Viral Haemorrhagic Fever] Nos

  • Viral Haemorrhagic Fever, Not Otherwise Specified

Poliomyelitis
  • Polio

  • Infantile Paralysis

Muscle Tissue Disease
Swine Influenza
  • Influenza Due To Influenza A Virus Subtype H1n1

Herpangina
  • Vesicular Pharyngitis

West Nile Encephalitis
  • West-Nile Encephalitis

  • West Nile Fever

  • West Nile Fever Encephalitis

  • West Nile Fever With Encephalitis

  • West-Nile Fever

  • Encephalitis, West Nile Fever

Muscular Disease
Coronavirus Infectious Disease
Thrombocytopenia
  • Low Platelet Count

  • Low Platelets

  • Decreased Platelets

  • Platelet Dysfunction Nos

Integumentary System Disease
Microcephaly
  • Microencephaly

  • Microcephalus

  • Microcephalic

  • Nanocephaly

  • Congenital Microcephaly

  • Brain Hypoplasia

  • Brain Nondevelopment

  • Cephalic Hypoplasia

  • Undeveloped Cerebrum

  • Undeveloped Brain

  • Micrencephalon

  • Micrencephaly

Skin Disease
  • Skin Diseases

  • Genodermatosis

  • Abnormality Of The Skin

  • Skin Diseases, Genetic

  • Skin And Subcutaneous Tissue Disease

  • Dermatologic Disorders

Myopathy
  • Muscular Diseases

  • Myopathies

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

Congenital Nervous System Abnormality
  • Congenital Neurologic Anomaly

  • Congenital Nervous System Disorder

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
Mus musculus IFIH1 MGD MGI:1918836
Canis familiaris IFIH1 VGNC VGNC:41876
Felis catus IFIH1 VGNC VGNC:80243
Macaca mulatta IFIH1 VGNC VGNC:73419
Bos taurus IFIH1 VGNC VGNC:30048
Rattus norvegicus IFIH1 RGD RGD:1560496
Others IFIH1 NCBI