Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	64135
Gene name	Interferon induced with helicase C domain 1
Gene symbol	IFIH1
Synonyms (NCBI Gene)	AGS7HlcdIDDM19IMD95MDA-5MDA5RLR-2SGMRT1
Chromosome	2
Chromosome location	2q24.2
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

Show/Hide all (38)

SNP ID	Visualize variation	Clinical significance	Consequence
rs35337543	C>G,T	Conflicting-interpretations-of-pathogenicity, benign, uncertain-significance	Splice donor variant
rs138373022	A>C,T	Pathogenic	Coding sequence variant, missense variant
rs139714761	A>G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs145520044	C>A,T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs201472224	C>A,G	Pathogenic	Coding sequence variant, stop gained, missense variant
rs201495678	T>A	Likely-pathogenic	Coding sequence variant, stop gained
rs376048533	C>T	Pathogenic	Coding sequence variant, missense variant
rs587777445	C>T	Pathogenic	Missense variant, coding sequence variant
rs587777446	C>A,T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs587777447	T>C	Pathogenic	Missense variant, coding sequence variant
rs587777448	G>A	Pathogenic	Missense variant, coding sequence variant
rs587777449	T>A,C,G	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs587777575	C>T	Pathogenic	Missense variant, coding sequence variant
rs587777576	G>A	Pathogenic	Missense variant, coding sequence variant
rs672601336	C>T	Pathogenic	Missense variant, coding sequence variant
rs753383954	G>C,T	Pathogenic	Coding sequence variant, missense variant
rs753599401	T>C,G	Pathogenic	Coding sequence variant, missense variant
rs765887304	G>A,C	Pathogenic	Coding sequence variant, missense variant
rs774888783	G>A,T	Pathogenic	Missense variant, coding sequence variant, stop gained
rs774958328	T>A,C,G	Pathogenic	Missense variant, coding sequence variant
rs775441863	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs878853066	T>C	Pathogenic	Coding sequence variant, missense variant
rs923064561	A>C,G	Likely-pathogenic	Missense variant, coding sequence variant
rs1238832404	C>A,T	Pathogenic	Coding sequence variant, missense variant
rs1320095792	A>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1553696482	A>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1558875029	->C	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1559810905	T>A	Pathogenic	Coding sequence variant, missense variant
rs1576219706	T>C	Pathogenic	Coding sequence variant, missense variant
rs1576222015	A>C	Pathogenic	Coding sequence variant, missense variant
rs1576222803	T>C	Pathogenic	Coding sequence variant, missense variant
rs1576222807	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1576222845	C>T	Pathogenic	Coding sequence variant, missense variant
rs1576224269	G>A	Pathogenic	Coding sequence variant, missense variant
rs1576226604	C>T	Pathogenic	Coding sequence variant, missense variant
rs1576226728	T>C	Pathogenic	Coding sequence variant, missense variant
rs1576227162	C>T	Pathogenic	Coding sequence variant, missense variant
rs1576229572	G>A,C	Pathogenic	Coding sequence variant, missense variant

Show/Hide all (12)

miRTarBase ID	miRNA	Experiments	Reference
MIRT029703	hsa-miR-26b-5p	Microarray	19088304
MIRT048368	hsa-miR-29b-3p	CLASH	23622248
MIRT046462	hsa-miR-15b-5p	CLASH	23622248
MIRT042455	hsa-miR-424-5p	CLASH	23622248
MIRT1060308	hsa-miR-1279	CLIP-seq
MIRT1060309	hsa-miR-3137	CLIP-seq
MIRT1060310	hsa-miR-323-3p	CLIP-seq
MIRT1060311	hsa-miR-3686	CLIP-seq
MIRT1060312	hsa-miR-4277	CLIP-seq
MIRT1060309	hsa-miR-3137	CLIP-seq
MIRT1060310	hsa-miR-323-3p	CLIP-seq
MIRT1060311	hsa-miR-3686	CLIP-seq

Show/Hide all (65)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0002376	Process	Immune system process	IEA
GO:0002753	Process	Cytoplasmic pattern recognition receptor signaling pathway	TAS	21616437
GO:0003677	Function	DNA binding	IEA
GO:0003723	Function	RNA binding	IDA	33727702
GO:0003723	Function	RNA binding	IEA
GO:0003724	Function	RNA helicase activity	IEA
GO:0003724	Function	RNA helicase activity	IMP	19211564
GO:0003725	Function	Double-stranded RNA binding	IBA
GO:0003725	Function	Double-stranded RNA binding	IDA	19656871
GO:0003725	Function	Double-stranded RNA binding	TAS	17079289
GO:0003727	Function	Single-stranded RNA binding	IBA
GO:0003727	Function	Single-stranded RNA binding	IDA	19656871
GO:0004386	Function	Helicase activity	IEA
GO:0005515	Function	Protein binding	IPI	16127453, 17460044, 17600090, 19403670, 19416887, 20434986, 21156324, 21791617, 21903422, 22301138, 22328336, 22623778, 22908223, 23328395, 25865883, 28591694, 30193849, 31015422, 32296183, 33372174, 33727702, 34084167
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	11805321
GO:0005737	Component	Cytoplasm	IDA	33727702
GO:0005737	Component	Cytoplasm	IEA
GO:0005739	Component	Mitochondrion	IDA	33727702
GO:0005739	Component	Mitochondrion	IEA
GO:0005829	Component	Cytosol	TAS
GO:0007165	Process	Signal transduction	IEA
GO:0008270	Function	Zinc ion binding	IBA
GO:0008270	Function	Zinc ion binding	IDA	19380577, 19531363
GO:0009299	Process	MRNA transcription	IDA	9891032
GO:0009597	Process	Detection of virus	TAS	17079289
GO:0009615	Process	Response to virus	IDA	33727702
GO:0009615	Process	Response to virus	IEA
GO:0009615	Process	Response to virus	TAS	21616437
GO:0016787	Function	Hydrolase activity	IEA
GO:0016887	Function	ATP hydrolysis activity	IEA
GO:0016887	Function	ATP hydrolysis activity	IMP	19211564
GO:0016925	Process	Protein sumoylation	IDA	21156324
GO:0032727	Process	Positive regulation of interferon-alpha production	IMP	19656871, 21957149
GO:0032727	Process	Positive regulation of interferon-alpha production	TAS	17079289
GO:0032728	Process	Positive regulation of interferon-beta production	IDA	17600090, 33727702
GO:0032728	Process	Positive regulation of interferon-beta production	IMP	19656871, 21957149
GO:0032728	Process	Positive regulation of interferon-beta production	TAS	17079289
GO:0032755	Process	Positive regulation of interleukin-6 production	IMP	21957149
GO:0032760	Process	Positive regulation of tumor necrosis factor production	IMP	21957149
GO:0034344	Process	Regulation of type III interferon production	TAS	21616437
GO:0038187	Function	Pattern recognition receptor activity	IDA	21217758, 23273991
GO:0039530	Process	MDA-5 signaling pathway	IBA
GO:0039530	Process	MDA-5 signaling pathway	IDA	17600090, 33727702
GO:0039530	Process	MDA-5 signaling pathway	IMP	19211564
GO:0042802	Function	Identical protein binding	IDA	23090998, 30449722, 33727702
GO:0042802	Function	Identical protein binding	IPI	22160685, 25865883
GO:0043021	Function	Ribonucleoprotein complex binding	IPI	19881509
GO:0045071	Process	Negative regulation of viral genome replication	IDA	33727702
GO:0045087	Process	Innate immune response	IEA
GO:0045087	Process	Innate immune response	TAS	21616437
GO:0046872	Function	Metal ion binding	IEA
GO:0051259	Process	Protein complex oligomerization	IEA
GO:0051607	Process	Defense response to virus	IDA	21478870, 33727702
GO:0051607	Process	Defense response to virus	IEA
GO:0060337	Process	Type I interferon-mediated signaling pathway	IEA
GO:0060760	Process	Positive regulation of response to cytokine stimulus	IMP	21957149
GO:0071360	Process	Cellular response to exogenous dsRNA	IMP	21957149
GO:0098586	Process	Cellular response to virus	IEP	28146100
GO:0140374	Process	Antiviral innate immune response	IBA
GO:0140374	Process	Antiviral innate immune response	IDA	9891032, 14703513, 18984593
GO:0140374	Process	Antiviral innate immune response	IEA

MIM	HGNC	e!Ensembl
606951	18873	ENSG00000115267

Q9BYX4

Protein name

Interferon-induced helicase C domain-containing protein 1 (EC 3.6.4.13) (Clinically amyopathic dermatomyositis autoantigen 140 kDa) (CADM-140 autoantigen) (Helicase with 2 CARD domains) (Helicard) (Interferon-induced with helicase C domain protein 1) (Mel

Protein function

Innate immune receptor which acts as a cytoplasmic sensor of viral nucleic acids and plays a major role in sensing viral infection and in the activation of a cascade of antiviral responses including the induction of type I interferons and pro-in

PDB

2RQB , 3B6E , 3GA3 , 4GL2 , 7DNI , 7DNJ , 7JL0 , 7JL2

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF16739	CARD_2	7 → 99	Caspase recruitment domain	Domain
PF00619	CARD	115 → 200	Caspase recruitment domain	Domain
PF04851	ResIII	305 → 493	Type III restriction enzyme, res subunit	Family
PF18119	RIG-I_C	522 → 692	RIG-I receptor C-terminal domain	Domain
PF00271	Helicase_C	699 → 826	Helicase conserved C-terminal domain	Family
PF11648	RIG-I_C-RD	903 → 1018	C-terminal domain of RIG-I	Domain

Tissue specificity

TISSUE SPECIFICITY: Widely expressed, at a low level. Expression is detected at slightly highest levels in placenta, pancreas and spleen and at barely levels in detectable brain, testis and lung. {ECO:0000269|PubMed:11805321, ECO:0000269|PubMed:12015121,

Sequence

MSNGYSTDENFRYLISCFRARVKMYIQVEPVLDYLTFLPAEVKEQIQRTVATSGNMQAVE
LLLSTLEKGVWHLGWTREFVEALRRTGSPLAARYMNPELTDLPSPSFENAHDEYLQLLNL
LQPTLVDKLLVRDVLDKCMEEELLTIEDRNRIAAAENNGNESGVRELLKRIVQKENWFSA
FLNVLRQTGNNELVQELTGSDCSESNAEIENLSQVDGPQVEEQLLSTTVQPNLEKEVWGM
ENNSSESSFADSSVVSESDTSLAEGSVSCLDESLGHNSNMGSDSGTMGSDSDEENVAARA
SPEPELQLRPYQMEVAQPALEGKNIIICLPTGSGKTRVAVYIAKDHLDKKKKASEPGKVI
VLVNKVLLVEQLFRKEFQPFLKKWYRVIGLSGDTQLKISFPEVVKSCDIIISTAQILENS
LLNLENGEDAGVQLSDFSLIIIDECHHTNKEAVYNNIMRHYLMQKLKNNRLKKENKPVIP
LPQILGLTASPGVGGATKQAKAEEHILKLCANLDAFTIKTVKENLDQLKNQIQEPCKKFA
IADATREDPFKEKLLEIMTRIQTYCQMSPMSDFGTQPYEQWAIQMEKKAAKEGNRKERVC
AEHLRKYNEALQINDTIRMIDAYTHLETFYNEEKDKKFAVIEDDSDEGGDDEYCDGDEDE
DDLKKPLKLDETDRFLMTLFFENNKMLKRLAENPEYENEKLTKLRNTIMEQYTRTEESAR
GIIFTKTRQSAYALSQWITENEKFAEVGVKAHHLIGAGHSSEFKPMTQNEQKEVISKFRT
GKINLLIATTVAEEGLDIKECNIVIRYGLVTNEIAMVQARGRARADESTYVLVAHSGSGV
IEHETVNDFREKMMYKAIHCVQNMKPEEYAHKILELQMQSIMEKKMKTKRNIAKHYKNNP
SLITFLCKNCSVLACSGEDIHVIEKMHHVNMTPEFKELYIVRENKALQKKCADYQINGEI
ICKCGQAWGTMMVHKGLDLPCLKIRNFVVVFKNNSTKKQYKKWVELPITFPNLDYSECCL
FSDED

Sequence length

1025

Interactions

View interactions

	KEGG		Reactome
	RIG-I-like receptor signaling pathway Hepatitis B Measles Influenza A Herpes simplex virus 1 infection Coronavirus disease - COVID-19		DDX58/IFIH1-mediated induction of interferon-alpha/beta Ub-specific processing proteases Ovarian tumor domain proteases TRAF3-dependent IRF activation pathway TRAF6 mediated IRF7 activation TRAF6 mediated NF-kB activation NF-kB activation through FADD/RIP-1 pathway mediated by caspase-8 and -10 Negative regulators of DDX58/IFIH1 signaling

2771

Show/Hide Causal Diseases (9)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Aicardi Goutieres syndrome	Likely pathogenic	rs148590996	RCV003332428
Aicardi-Goutieres syndrome 7	Pathogenic; Likely pathogenic	rs587777445, rs587777446, rs587777447, rs587777448, rs672601336, rs587777449, rs587777575, rs587777576, rs994007314, rs376048533, rs1553696482, rs923064561, rs1559810905, rs1576219706, rs138373022 View all (14 more)	RCV000125470 RCV000125471 RCV000125472 RCV000125473 RCV000125474 RCV000125475 RCV000128858 RCV000128859 RCV002285085 RCV000789041 RCV004555209 RCV000652093 RCV000700416 RCV000761569 RCV001003368 RCV001003367 RCV001003366 RCV001003365 RCV001003364 RCV001003363 RCV001003362 RCV001003361 RCV001003360 RCV001003359 RCV001003358 RCV001003357 RCV001003356 RCV001003355 RCV001003354 RCV001003353 RCV001003352 RCV001003351 RCV001003350
Hereditary predisposition to infections	Likely pathogenic	rs2468960714	RCV003994758
IFIH1-related disorder	Likely pathogenic; Pathogenic	rs587777446, rs376048533	RCV004745206 RCV004745248
Immunodeficiency 95	Likely pathogenic; Pathogenic	rs587777446, rs764380346	RCV003989322 RCV002251076
Incidental Discovery	Likely pathogenic; Pathogenic	rs376048533	RCV005396504
Neurodevelopmental delay	Pathogenic	rs2105197765	RCV002274401
Singleton-Merten syndrome 1	Pathogenic; Likely pathogenic	rs587777445, rs587777446, rs587777448, rs376048533, rs1553696482, rs923064561, rs1576226604, rs1576229572	RCV001849907 RCV000763454 RCV001382400 RCV000169754 RCV004555209 RCV000652093 RCV000700416 RCV003333119 RCV003234569 RCV003234568 RCV003234567
Spastic diplegia	Likely pathogenic	rs672601336	RCV005235032

Show/Hide Unknown Diseases (36)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Conflicting classifications of pathogenicity; Benign	rs35337543, rs41399348, rs6748554, rs35732034	RCV005894148 RCV005897083 RCV005897080 RCV005900323
Adrenocortical carcinoma, hereditary	Conflicting classifications of pathogenicity	rs35337543, rs35732034	RCV005894152 RCV005900327
Basal ganglia calcification, idiopathic, childhood-onset	Uncertain significance; Conflicting classifications of pathogenicity	rs1690943601, rs147278787, rs200017837	RCV003459029 RCV003336224 RCV003336293
Cervical cancer	Uncertain significance; Conflicting classifications of pathogenicity; Benign; Likely benign	rs898118498, rs35337543, rs41399348, rs6748554, rs35732034, rs147000317	RCV005922843 RCV005894153 RCV005897085 RCV005897081 RCV005900328 RCV005907138
Cholangiocarcinoma	Conflicting classifications of pathogenicity; Likely benign	rs35337543, rs201026962	RCV005894165 RCV005900320
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Conflicting classifications of pathogenicity	rs35732034	RCV005900344
Clear cell carcinoma of kidney	Conflicting classifications of pathogenicity	rs35337543, rs35732034	RCV005894155 RCV005900330
Colon adenocarcinoma	Conflicting classifications of pathogenicity	rs35337543, rs35732034	RCV005894147 RCV005900322
Colorectal cancer	Conflicting classifications of pathogenicity	rs35732034	RCV005900334
Familial cancer of breast	Conflicting classifications of pathogenicity; Uncertain significance	rs145641024, rs35732034, rs747781178	RCV005900986 RCV005900321 RCV005912421
Familial pancreatic carcinoma	Conflicting classifications of pathogenicity	rs35337543, rs35732034	RCV005894156 RCV005900332
Gastric cancer	Uncertain significance; Benign; Conflicting classifications of pathogenicity	rs746638759, rs1453617092, rs41399348, rs35732034	RCV005922882 RCV005868598 RCV005897087 RCV005900336
Hepatocellular carcinoma	Conflicting classifications of pathogenicity	rs35337543, rs35732034	RCV005894149 RCV005900324
IFIH1-related immunodeficiency	Conflicting classifications of pathogenicity	rs35744605, rs150317197	RCV001255983 RCV001255984
IFIH1-related interferonopathy	Uncertain significance	rs1691055209	RCV003405715
IFIH1-related type 1 interferonopathy	Uncertain significance; Conflicting classifications of pathogenicity	rs1212715492, rs148590996, rs773033563	RCV005361774 RCV005357880 RCV005357941
Intellectual disability	Conflicting classifications of pathogenicity	rs74162074	RCV005626135
Lung cancer	Conflicting classifications of pathogenicity; Benign	rs35337543, rs41399348, rs6748554, rs35732034	RCV005894166 RCV005897088 RCV005897082 RCV005900342
Lymphoma	Conflicting classifications of pathogenicity	rs35337543	RCV005894159
Malignant lymphoma, large B-cell, diffuse	Conflicting classifications of pathogenicity	rs35337543, rs35732034	RCV005894157 RCV005900333
Malignant tumor of esophagus	Conflicting classifications of pathogenicity; Benign	rs35337543, rs41399348, rs35732034	RCV005894150 RCV005897084 RCV005900325
Melanoma	Conflicting classifications of pathogenicity	rs35337543, rs35732034	RCV005894164 RCV005900341
Multisystem inflammatory syndrome in children	Conflicting classifications of pathogenicity	rs35337543, rs773033563	RCV001778865 RCV001779064
Nonpapillary renal cell carcinoma	Uncertain significance; Conflicting classifications of pathogenicity	rs774035953, rs35337543, rs35732034	RCV005924136 RCV005894151 RCV005900326
Ovarian cancer	Conflicting classifications of pathogenicity	rs35337543, rs35732034	RCV005894154 RCV005900329
Ovarian serous cystadenocarcinoma	Uncertain significance; Conflicting classifications of pathogenicity	rs765203521, rs35337543, rs35732034	RCV005932120 RCV005894160 RCV005900337
Prostate cancer	Uncertain significance	rs193920867	RCV000149294
Sarcoma	Conflicting classifications of pathogenicity; Benign	rs35337543, rs41399348, rs35732034	RCV005894158 RCV005897086 RCV005900335
See cases	Conflicting classifications of pathogenicity; Uncertain significance	rs201193151, rs2105186917, rs2105198660, rs749942019, rs374205118, rs759430873	RCV002287496 RCV002252441 RCV002252637 RCV004584424 RCV004584425 RCV002252341
Susceptibility to severe COVID-19	Likely benign; Conflicting classifications of pathogenicity	rs775467204, rs35337543	RCV003120377 RCV003114429
Thymoma	Conflicting classifications of pathogenicity	rs35337543, rs35732034	RCV005894162 RCV005900339
Thyroid cancer, nonmedullary, 1	Conflicting classifications of pathogenicity; Likely benign	rs35337543, rs35732034, rs201026962	RCV005894163 RCV005900340 RCV005900319
Uterine carcinosarcoma	Conflicting classifications of pathogenicity	rs35337543, rs35732034	RCV005894161 RCV005900338
Uterine corpus endometrial carcinoma	Conflicting classifications of pathogenicity; Benign	rs35337543, rs41399348, rs35732034	RCV005894167 RCV005897089 RCV005900343
Uveal melanoma	Conflicting classifications of pathogenicity	rs35732034	RCV005900331
Vascular disorder	Conflicting classifications of pathogenicity	rs751231371	RCV005626551

Show/Hide Text Mining Associations (174)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Acro Osteolysis	Associate	34453469
Aicardi Goutieres syndrome	Associate	25604658, 25620204, 25769924, 26284909, 29395326, 29703882, 30219631, 30952201, 31559893, 31698194, 31898846, 32508843, 33307271, 33482855, 34439917 View all (5 more)
Allergic Fungal Sinusitis	Associate	26047816
Alopecia	Associate	21531040
Alzheimer Disease	Associate	40194700
Amyopathic dermatomyositis	Associate	22192091, 22623119, 26651481, 27115353, 29338781, 29952940, 29957268, 30158335, 30333415, 32033996, 32925726, 33257351, 33717138, 33999578, 36316755 View all (5 more)
Amyopathic dermatomyositis	Stimulate	32799827
Anodontia of Permanent Dentition	Associate	34453469
Aortic Aneurysm Abdominal	Associate	29567028
Aortic Valve Calcification of	Associate	34453469
Arthralgia	Associate	21531040, 33140079
Arthritis	Associate	21531040, 24989778, 27115353, 32487712, 33124555, 33140079, 37834254, 39213243
Arthritis Psoriatic	Associate	28040421, 28501801, 35918839, 36651965, 37834254
Arthritis Rheumatoid	Associate	17442111, 21333602, 34079550, 36029141, 36837566
Atherosclerosis	Associate	36437453
Atrophy	Associate	33576578
Autoimmune Diseases	Associate	17535987, 20844740, 21270278, 21705624, 25620204, 28000722, 29930297, 30761886, 31733941, 33257351, 35918839, 36651965, 37834254, 40043752
Baraitser Brett Piesowicz syndrome	Associate	29782060
Brain Diseases	Associate	34453469
Brain Injuries Diffuse	Associate	37258042
Calcinosis	Associate	24869801, 30952201, 32487712
Caliciviridae Infections	Associate	29753657
Carcinoma Basal Cell	Associate	36496446
Carcinoma Squamous Cell	Associate	36496446
Cardiomyopathies	Associate	33579193
Cardiomyopathy Dilated	Associate	33579193
CD59 Deficiency	Associate	36434151, 37834254
Chemical and Drug Induced Liver Injury	Associate	38079352
Chilblain lupus 1	Associate	26284909
Chronic Disease	Associate	22892369
Cognition Disorders	Associate	30952201
Cold Injury	Stimulate	30385348
Colitis Ulcerative	Associate	35918839, 36651965
Common Cold	Associate	21224721
Communicable Diseases	Associate	28427244
Coronary Artery Disease	Associate	40306092
Coronavirus Infections	Associate	36232993
COVID 19	Associate	32737579, 33019894, 33440148, 34276672, 34528526, 34987516, 35060899, 35234938, 35793508, 36333264, 36434151, 36672770, 36992353, 38522030, 40120867
Coxsackievirus Infections	Associate	28000722
Crohn Disease	Associate	35918839, 36651965
Cytomegalovirus Infections	Associate	39331212
Death	Associate	29093381, 35793508, 36672770, 36759007, 37382274, 37480130, 37752437, 39908093
Deglutition Disorders	Associate	35983058
Dermatitis Atopic	Associate	37540585
Dermatomyositis	Associate	21531040, 22192091, 22623119, 24741583, 24989778, 25331610, 25337792, 26806087, 27115353, 28040421, 28566605, 28824190, 29642214, 29952940, 29984753 View all (55 more)
Dermatomyositis	Inhibit	33576578
Diabetes Mellitus	Associate	21270278, 22110759, 25075402, 28427244, 35957810
Diabetes Mellitus Type 1	Associate	17442111, 17535987, 18647951, 18927125, 19264985, 19797678, 19956106, 19961590, 20116863, 20644636, 20844740, 21055717, 21270278, 21270831, 21289206 View all (23 more)
Diabetes Mellitus Type 2	Associate	28427244
Diarrhea	Associate	38579289
Disease	Associate	34795277
Dupuytren Contracture	Associate	21531040, 22378718
Edema	Associate	21531040
Encephalitis Japanese	Associate	30481615
Enteritis	Inhibit	32057771
Enterovirus Infections	Associate	22110759, 24621100, 34726731, 35867130, 37117225
Epilepsy Generalized	Associate	30761886
Erythema	Stimulate	29952940
Exanthema	Associate	37197957, 39914261
Exanthema	Stimulate	39213243
Eyelid Diseases	Associate	38088023
Fahr's disease	Associate	29782060
Fever	Associate	27115353
Genetic Diseases Inborn	Associate	34439917
Glomerulonephritis IGA	Associate	22892369
Graves Disease	Associate	17535987, 29973096, 31733941
Hashimoto Disease	Associate	29973096
Hepatitis C	Associate	25130193
Hereditary Autoinflammatory Diseases	Associate	31898846, 33042144, 34297039, 34795277, 34987516, 35410415
Hereditary Myopathy with Early Respiratory Failure	Associate	39907594
Heredodegenerative Disorders Nervous System	Associate	23684765
HIV Infections	Associate	19596987
Hypersensitivity Immediate	Associate	28605144, 31898846
Hypertension Pulmonary	Associate	30219631
Hypothyroidism	Associate	29691411
Hypoxia Brain	Associate	37905653
Idiopathic Interstitial Pneumonias	Associate	29269659
Immunologic Deficiency Syndromes	Associate	34185153
Infections	Associate	20395558, 24800889, 25130193, 30158335, 31235738, 32038656, 34369354, 34488908, 40120867
Infections	Inhibit	24833036
Inflammation	Stimulate	18971270, 21224721
Inflammation	Associate	21531040, 22545145, 22892369, 23441136, 23684765, 24686847, 24992168, 25337792, 25620204, 29395326, 30808838, 32849261, 33387195, 35060899, 35359976, 36279285, 40306092 View all (2 more)
Inflammatory Bowel Disease 25 Autosomal Recessive	Associate	34185153
Inflammatory Bowel Diseases	Associate	34185153, 34758847
Influenza Human	Stimulate	37515209
Interferon gamma receptor 1 deficiency	Associate	38079352
Joint Diseases	Associate	28605144
Kidney Diseases	Associate	22892369
Latent Autoimmune Diabetes in Adults	Associate	31733941
Livedoid Vasculopathy	Associate	21531040, 33576578
Lung Diseases	Associate	24989778, 35661835, 39625817
Lung Diseases Interstitial	Stimulate	21531040, 25331610, 30282869, 32799827, 35436746, 35661835, 35793508, 36070956, 36211445, 37985458, 38283343, 39908093
Lung Diseases Interstitial	Associate	22192091, 22378718, 22623119, 22886382, 24741583, 24989778, 25337792, 26414240, 26651481, 27115353, 27301523, 27888997, 28566605, 29093381, 29338781 View all (43 more)
Lupus Erythematosus Discoid	Associate	33879674
Lupus Erythematosus Systemic	Associate	19838195, 21705624, 22046141, 23441136, 29257335, 29321042, 29930297, 30707351, 34079550, 35757684
Lupus Nephritis	Associate	22892369
Lymphadenopathy	Stimulate	33140079
Lymphohistiocytosis Hemophagocytic	Associate	29984753
Lymphopenia	Associate	36682032, 37382274
Mastocytosis Systemic	Associate	36333264
Mediastinal Emphysema	Associate	22378718, 30158335, 36759007, 38147317
Melanoma	Associate	19620789, 24573197
Melanoma Cutaneous Malignant	Associate	32902917
Metabolism Inborn Errors	Associate	34726731
Mitochondrial Diseases	Stimulate	19620789
Mitochondrial Diseases	Associate	33576578
Mouth Diseases	Associate	37117225
Mucocutaneous Lymph Node Syndrome	Associate	37588055
Multiple Sclerosis	Associate	19156166, 31733941
Muscle Neoplasms	Associate	33576578
Muscle Weakness	Associate	28824190, 33579193, 37197957
Muscular Diseases	Associate	24989778, 33576578, 33579193
Musculoskeletal Diseases	Associate	28605144
Myalgia	Associate	28824190
Myopia	Associate	29346494
Myositis	Associate	29957268, 31096460, 32487712, 37094222, 37752437, 37898737, 38153165, 39213243, 40114239
Myotonic Dystrophy	Associate	22378718, 22886382, 31096460, 31301087, 33032789, 34426622, 35436746, 35983058, 37258042, 37701443, 38147317, 38153137, 39625817, 39908093
Nasopharyngeal Carcinoma	Associate	32271791
Neoplasm Metastasis	Inhibit	19620789
Neoplasms	Associate	24573197, 36496446
Nephrotic Syndrome	Associate	34776485
Neuroblastoma	Associate	26208481
Neuroinflammatory Diseases	Associate	26284909, 28605144
Neurologic Manifestations	Associate	26284909
Nonsyndromic Deafness	Associate	29346494
Obesity	Inhibit	36851534
Oral Ulcer	Associate	21531040, 24989778
Osteoarthritis	Associate	21337319, 33782454
Osteogenesis imperfecta type 1A	Associate	25075402
Pancreatic Neoplasms	Associate	37117225
Panniculitis	Associate	24741583
Papillomavirus Infections	Inhibit	33013878
Papillomavirus Infections	Associate	33164635
Paraparesis Spastic	Associate	29782060
Paraplegia	Associate	34453469
Pharyngitis	Stimulate	39625817
Pneumonia	Stimulate	38283343
Pneumonia Mycoplasma	Stimulate	36316755
Polymyositis	Associate	25337792, 33032789
Propping Zerres syndrome	Associate	32487712
Psoriasis	Stimulate	17928888
Psoriasis	Associate	35918839, 36651965, 37834254
Pulmonary Disease Chronic Obstructive	Associate	23384071
Pulmonary Disease Chronic Obstructive	Stimulate	24992168, 36837566
Pulmonary Disease Chronic Obstructive	Inhibit	31170225
Raynaud Disease	Associate	32487712
Respiratory Insufficiency	Associate	22378718, 22623119
Respiratory Syncytial Virus Infections	Associate	19386802
Respiratory Tract Infections	Associate	38153165
Sarcoma Kaposi	Associate	18155685
Scleroderma Systemic	Associate	33253099
Shock Septic	Associate	33019894
Singleton Merten syndrome	Associate	25620204, 26284909, 28605144, 30574673, 31898846, 34439917, 34453469, 35410415
Sjogren's Syndrome	Associate	29957268
Skin Diseases	Associate	37834254, 39213243
Skin Ulcer	Associate	21531040, 22378718, 24989778, 32487712, 39914261
Skin Ulcer	Stimulate	22623119
Spastic paraplegia 10 autosomal dominant	Associate	29782060
Spondylitis Ankylosing	Associate	35918839, 36651965
Status Asthmaticus	Inhibit	23212197
Status Asthmaticus	Associate	29843677
Subcutaneous Emphysema	Associate	38147317
Thyroid Dyshormonogenesis 2A	Associate	25829454
Thyroiditis Autoimmune	Associate	29973096
Tooth Loss	Associate	26284909
Ulcer	Associate	25331610, 35757684, 39914261
Vaccinia	Stimulate	21354589
Vascular Calcification	Associate	25620204
Ventricular Dysfunction Left	Associate	35983058
Virus Diseases	Associate	17651439, 21156324, 24886842, 28716935, 29899107, 29939295, 30808838, 32737579, 34194436, 35060899, 35359976, 36434151, 37551942, 37834254
Vitiligo	Associate	30761886
Vitiligo	Stimulate	32532953
Weight Loss	Stimulate	33140079
Zika Virus Infection	Associate	36851534

IFIH1 (interferon induced with helicase C domain 1)