IFIH1 (interferon induced with helicase C domain 1)

Gene

• Entrez ID: 64135
• Gene name: Interferon induced with helicase C domain 1
• Gene symbol: IFIH1
• Synonyms (NCBI Gene): AGS7, Hlcd, IDDM19, IMD95, MDA-5, MDA5, RLR-2, SGMRT1
• 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

SNPs

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

miRNA

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

Gene ontology (GO)

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

Other IDs

• MIM: 606951
• HGNC: 18873
• e!Ensembl: ENSG00000115267

Protein

• UniProt ID: 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

Pathways

KEGG:

RIG-I-like receptor signaling pathway
Hepatitis B
Measles
Influenza A
Herpes simplex virus 1 infection
Coronavirus disease - COVID-19

Reactome:

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

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Aicardi Goutieres syndrome	Likely pathogenic	rs148590996	RCV003332428	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Aicardi-Goutieres syndrome 7	Pathogenic; Likely pathogenic	rs587777445, rs587777446, rs587777447, rs587777448, rs672601336, rs587777449, rs587777575, rs587777576, rs994007314, rs376048533, rs1553696482, rs923064561, rs1559810905, rs1576219706, rs138373022, rs1576222015, rs765887304, rs1238832404, rs774958328, rs1576222803, rs1576222845, rs201472224, rs1576224269, rs753599401, rs1576226604, rs753383954, rs1576226728, rs1576227162, rs1576229572	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	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hereditary predisposition to infections	Likely pathogenic	rs2468960714	RCV003994758	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
IFIH1-related disorder	Likely pathogenic; Pathogenic	rs587777446, rs376048533	RCV004745206 RCV004745248	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Immunodeficiency 95	Likely pathogenic; Pathogenic	rs587777446, rs764380346	RCV003989322 RCV002251076	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Incidental Discovery	Likely pathogenic; Pathogenic	rs376048533	RCV005396504	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental delay	Pathogenic	rs2105197765	RCV002274401	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
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	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Spastic diplegia	Likely pathogenic	rs672601336	RCV005235032	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Conflicting classifications of pathogenicity; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Adrenocortical carcinoma, hereditary	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AICARDI-GOUTIERES SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANKYLOSING SPONDYLITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANTI-NMDA RECEPTOR ENCEPHALITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATOPIC ECZEMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOIMMUNE THYROID DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Basal ganglia calcification, idiopathic, childhood-onset	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Uncertain significance; Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Conflicting classifications of pathogenicity; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CROHN'S DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEVELOPMENTAL REGRESSION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial pancreatic carcinoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Uncertain significance; Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GRAVES DISEASE	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOTHYROIDISM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IDIOPATHIC BASAL GANGLIA CALCIFICATION, CHILDHOOD ONSET	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IFIH1-related immunodeficiency	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IFIH1-related interferonopathy	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IFIH1-related type 1 interferonopathy	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IGA DEFICIENCY	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFLAMMATORY BOWEL DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFLAMMATORY SKIN DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LITTLES DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Conflicting classifications of pathogenicity; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUPUS ERYTHEMATOSUS, SYSTEMIC	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Conflicting classifications of pathogenicity; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multisystem inflammatory syndrome in children	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian cancer	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostate cancer	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIASIS	—	CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIASIS VULGARIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIATIC ARTHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Conflicting classifications of pathogenicity; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCLEROSING CHOLANGITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SELECTIVE IGA DEFICIENCY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Susceptibility to severe COVID-19	Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC LUPUS ERYTHEMATOSUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Conflicting classifications of pathogenicity; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 1 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ULCERATIVE COLITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Conflicting classifications of pathogenicity; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Vascular disorder	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VITILIGO	—	CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acquired porencephaly	Acquired Porencephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Acro-Osteolysis	Acrosteolysis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Addison Disease	Addison`s Disease	BEFREE	19961590, 22789000		★☆☆☆☆ Found in Text Mining only
Adult type dermatomyositis	Dermatomyositis	BEFREE	20015976, 20467774, 20498012, 21531040, 22886382, 24067379, 27115353, 27452897, 27851860, 27919567, 28346662, 28460448, 28480196, 28711882, 29229575, 29380533, 29417209, 29529898, 29642214, 29947075, 30039536, 30140893, 30267437, 30344746, 30463865, 30639643, 30739212, 30790016, 31050194, 31092718, 31143953, 31301087, 31420814, 31524333, 31617496, 31797350, 31820722		★☆☆☆☆ Found in Text Mining only
Aicardi Goutieres syndrome	Aicardi goutieres syndrome	Pubtator	25604658, 25620204, 25769924, 26284909, 29395326, 29703882, 30219631, 30952201, 31559893, 31698194, 31898846, 32508843, 33307271, 33482855, 34439917, 34453469, 37828538, 38041217, 38368708, 40043752	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
AICARDI-GOUTIERES SYNDROME	Aicardi Goutieres Syndrome	ORPHANET_DG	24686847, 24995871		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AICARDI-GOUTIERES SYNDROME	Aicardi Goutieres Syndrome	CTD_human_DG	24686847		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
	Aicardi Goutieres Syndrome	Orphanet			★☆☆☆☆ Found in Text Mining only
AICARDI-GOUTIERES SYNDROME	Aicardi Goutieres Syndrome	BEFREE	24995871, 25080300, 25620204, 25777993, 26284909, 26833990, 26993858, 27643693, 29395326, 30219631, 30593198, 31698194		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AICARDI-GOUTIERES SYNDROME	Aicardi Goutieres Syndrome	GENOMICS_ENGLAND_DG	25604658		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AICARDI-GOUTIERES SYNDROME 1	Aicardi Goutieres Syndrome	CTD_human_DG	24686847		★☆☆☆☆ Found in Text Mining only
Aicardi-Goutieres Syndrome 2	Aicardi Goutieres Syndrome	CTD_human_DG	24686847		★☆☆☆☆ Found in Text Mining only
AICARDI-GOUTIERES SYNDROME 7	Aicardi Goutieres Syndrome	UNIPROT_DG	24686847, 24995871		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
AICARDI-GOUTIERES SYNDROME 7	Aicardi Goutieres Syndrome	GENOMICS_ENGLAND_DG	24995871, 25542954, 25604658, 25620204, 29270977		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
AICARDI-GOUTIERES SYNDROME 7	Aicardi Goutieres Syndrome	CLINVAR_DG	25620204, 28319323, 30965144		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
AICARDI-GOUTIERES SYNDROME 7	Aicardi Goutieres Syndrome	BEFREE	30965144		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Alzheimer Disease	Alzheimer disease	Pubtator	40194700	Associate	★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	CLINVAR_DG	30965144		★☆☆☆☆ Found in Text Mining only
Ankylosing spondylitis	Ankylosing Spondylitis	GWASCAT_DG	26974007		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anodontia of Permanent Dentition	Anodontia	Pubtator	34453469	Associate	★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm	Aortic Aneurysm	HPO_DG			★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm Abdominal	Aortic aneurysm	Pubtator	29567028	Associate	★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm, Abdominal	Aortic Aneurysm	BEFREE	29567028		★☆☆☆☆ Found in Text Mining only
Aortic valve calcification	Aortic valve calcification	HPO_DG			★☆☆☆☆ Found in Text Mining only
Aortic Valve Calcification of	Aortic valve disease	Pubtator	34453469	Associate	★☆☆☆☆ Found in Text Mining only
Aortic Valve Stenosis	Aortic Valve Sclerosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Aplasia of muscle	Aplasia Of Muscle	BEFREE	21531040		★☆☆☆☆ Found in Text Mining only
Arhinencephaly	Arrhinencephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Arthralgia	Arthralgia	Pubtator	21531040, 33140079	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	Pubtator	21531040, 24989778, 27115353, 32487712, 33124555, 33140079, 37834254, 39213243	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	BEFREE	29417209, 29532710		★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Arthritis Psoriatic	Psoriatic arthritis	Pubtator	28040421, 28501801, 35918839, 36651965, 37834254	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	17442111, 21333602, 34079550, 36029141, 36837566	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis, Psoriatic	Psoriatic Arthritis	BEFREE	22814393		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	28415826, 29691411, 30327483		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	36437453	Associate	★☆☆☆☆ Found in Text Mining only
Atrophy	Atrophy	Pubtator	33576578	Associate	★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	17535987, 20121398, 20538742, 20694011, 21268286, 21270278, 21705624, 22110759, 22789000, 23246693, 23734776, 24402011, 25620204, 26530735, 28000722, 28553952, 28783706, 28851763, 28974542, 29032202, 29069650, 29395326, 29525183, 29930297, 30361393, 31433974		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	LHGDN	17535987		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune disease	Pubtator	17535987, 20844740, 21270278, 21705624, 25620204, 28000722, 29930297, 30761886, 31733941, 33257351, 35918839, 36651965, 37834254, 40043752	Associate	★☆☆☆☆ Found in Text Mining only
Autoinflammatory disorder	Autoinflammatory Disease	GENOMICS_ENGLAND_DG	28606988		★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	30858867		★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Brain atrophy	Brain atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	34453469	Associate	★☆☆☆☆ Found in Text Mining only
Brain Injuries Diffuse	Brain injuries	Pubtator	37258042	Associate	★☆☆☆☆ Found in Text Mining only
Calcinosis	Calcinosis	Pubtator	24869801, 30952201, 32487712	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Basal Cell	Basal cell carcinoma	Pubtator	36496446	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	36496446	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	Pubtator	33579193	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	33579193	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Dilated	Cardiomyopathy	BEFREE	24960033		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	BEFREE	24960033		★☆☆☆☆ Found in Text Mining only
Celiac Disease	Celiac disease	BEFREE	23246693		★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Chilblain lupus 1	Chilblain lupus erythematosus	Pubtator	26284909	Associate	★☆☆☆☆ Found in Text Mining only
Chilblains	Chilblain lesions	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cholangitis, Sclerosing	Cholangitis	GWASCAT_DG	26974007		★☆☆☆☆ Found in Text Mining only
Cholecystolithiasis	Cholecystolithiasis	BEFREE	30327483		★☆☆☆☆ Found in Text Mining only
Cholelithiasis	Cholelithiasis	BEFREE	30327483		★☆☆☆☆ Found in Text Mining only
Chronic Disease	Chronic disease	Pubtator	22892369	Associate	★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	24992168, 31170225		★☆☆☆☆ Found in Text Mining only
Chronic Periodontitis	Periodontitis	BEFREE	22152027		★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	30952201	Associate	★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	30361393		★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	35918839, 36651965	Associate	★☆☆☆☆ Found in Text Mining only
Common Cold	Common cold	Pubtator	21224721	Associate	★☆☆☆☆ Found in Text Mining only
Complete atrioventricular block	Complete Atrioventricular Block	BEFREE	26485346		★☆☆☆☆ Found in Text Mining only
Congenital clubfoot	Congenital Clubfoot	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Connective Tissue Diseases	Connective Tissue Disease	BEFREE	30616054		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	40306092	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Craniosynostosis	Craniosynostosis	BEFREE	26047816, 26521790		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	GWASCAT_DG	26974007		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn disease	Pubtator	35918839, 36651965	Associate	★☆☆☆☆ Found in Text Mining only
Cutis marmorata	Cutis marmorata	HPO_DG			★☆☆☆☆ Found in Text Mining only
Degeneration of the striatum	Degeneration of the striatum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Deglutition disorder	Pubtator	35983058	Associate	★☆☆☆☆ Found in Text Mining only
Dermatitis	Dermatitis	BEFREE	21531040		★☆☆☆☆ Found in Text Mining only
Dermatitis Atopic	Atopic dermatitis	Pubtator	37540585	Associate	★☆☆☆☆ Found in Text Mining only
Dermatitis, Atopic	Dermatitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dermatologic disorders	Dermatologic Disorders	BEFREE	28331982		★☆☆☆☆ Found in Text Mining only
Dermatomyositis	Dermatomyositis	BEFREE	20015976, 20467774, 20498012, 21531040, 22886382, 24067379, 27115353, 27452897, 27851860, 27919567, 28346662, 28460448, 28480196, 28711882, 29229575, 29380533, 29417209, 29529898, 29642214, 29947075, 30039536, 30140893, 30267437, 30344746, 30463865, 30639643, 30739212, 30790016, 31050194, 31092718, 31143953, 31301087, 31420814, 31524333, 31617496, 31797350, 31820722		★☆☆☆☆ Found in Text Mining only
Dermatomyositis	Dermatomyositis	Pubtator	21531040, 22192091, 22623119, 24741583, 24989778, 25331610, 25337792, 26806087, 27115353, 28040421, 28566605, 28824190, 29642214, 29952940, 29984753, 30066757, 30158335, 30915368, 31301087, 31874111, 32033996, 32310254, 32487712, 33019894, 33032789, 33140079, 33717138, 34368354, 34426622, 34721411, 34738372, 34776485, 34873015, 34987516, 35084311, 35236677, 35370250, 35436746, 35661835, 35793508, 36029141, 36050930, 36070956, 36211445, 36309526, 36622131, 36682032, 36703989, 37103652, 37197957, 37258042, 37279157, 37382274, 37480130, 37551942, 37640514, 37701443, 37985458, 38098481, 38147317, 38153137, 38153165, 38167532, 38522973, 38579289, 39213243, 39360352, 39625817, 39907594, 39914261	Associate	★☆☆☆☆ Found in Text Mining only
Dermatomyositis	Dermatomyositis	Pubtator	33576578	Inhibit	★☆☆☆☆ Found in Text Mining only
Dermatomyositis, Childhood Type	Dermatomyositis	BEFREE	31018961, 31403247		★☆☆☆☆ Found in Text Mining only
Developmental regression	Developmental regression	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Developmental regression	Developmental regression	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes	Diabetes	BEFREE	20121398, 21270278, 22932816, 25075402, 27482829		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	20121398, 21270278, 22932816, 25075402, 27482829, 28480196, 29417209, 29642214, 29952940, 30541137, 30739212, 31301087		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	21270278, 22110759, 25075402, 28427244, 35957810	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 1	Diabetes mellitus, type 1	Pubtator	17442111, 17535987, 18647951, 18927125, 19264985, 19797678, 19956106, 19961590, 20116863, 20644636, 20844740, 21055717, 21270278, 21270831, 21289206, 21304886, 21333602, 21594893, 21829393, 22053898, 22110093, 22110759, 23144876, 24117221, 24561305, 24965593, 26405073, 28000722, 28501801, 29782060, 34439917, 34858326, 35359976, 35867130, 35918839, 35957810, 36434151, 36651965	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	28427244	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	16699517, 16804532, 17442111, 17535987, 17989522, 18071670, 18927125, 19264985, 19324880, 19797678, 19841890, 19956106, 19961590, 20116863, 20121398, 20121407, 20351698, 20538742, 20644636, 20694011, 20736039, 20844740, 21055717, 21270278, 21304886, 21594893, 22053898, 22110093, 22110759, 22789000, 22932816, 23144876, 23152055, 23246693, 23539116, 23549392, 23734776, 24117221, 24386202, 24402011, 24561305, 24965593, 25042601, 25515714, 26385483, 26485223, 26782418, 28000722, 28851763, 28929635		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	GWASCAT_DG	17554260, 19430480, 21829393, 25751624		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	GWASDB_DG	17554260, 19430480, 21980299		★☆☆☆☆ Found in Text Mining only
Diarrhea	Diarrhea	Pubtator	38579289	Associate	★☆☆☆☆ Found in Text Mining only
Dupuytren Contracture	Dupuytren contracture	Pubtator	21531040, 22378718	Associate	★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Edema	Edema	Pubtator	21531040	Associate	★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	BEFREE	25777993		★☆☆☆☆ Found in Text Mining only
Enchondroma	Enchondroma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Epilepsy Generalized	Generalized epilepsy	Pubtator	30761886	Associate	★☆☆☆☆ Found in Text Mining only
Exanthema	Exanthema	Pubtator	37197957, 39914261	Associate	★☆☆☆☆ Found in Text Mining only
Exanthema	Exanthema	Pubtator	39213243	Stimulate	★☆☆☆☆ Found in Text Mining only
Eyelid Diseases	Eyelid disease	Pubtator	38088023	Associate	★☆☆☆☆ Found in Text Mining only
Fahr's disease	Fahr's disease	Pubtator	29782060	Associate	★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glaucoma of childhood	Glaucoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	23390110		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	23390110		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glomerulonephritis IGA	Iga nephropathy	Pubtator	22892369	Associate	★☆☆☆☆ Found in Text Mining only
Graves Disease	Graves Disease	BEFREE	17535987, 18026693, 19961590, 23734776, 29973096, 31733941		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Graves Disease	Graves Disease	CTD_human_DG	17535987		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Graves Disease	Graves disease	Pubtator	17535987, 29973096, 31733941	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hashimoto Disease	Hashimoto Disease	BEFREE	19961590, 29973096		★☆☆☆☆ Found in Text Mining only
Hashimoto Disease	Hashimoto disease	Pubtator	29973096	Associate	★☆☆☆☆ Found in Text Mining only
Heart valve disease	Cardiac valvular disease	BEFREE	31772029		★☆☆☆☆ Found in Text Mining only
Hemiplegia/hemiparesis	Hemiplegia/hemiparesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hepatitis C	Hepatitis c	Pubtator	25130193	Associate	★☆☆☆☆ Found in Text Mining only
Hydrophthalmos	Glaucoma, congenital	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypersensitivity Immediate	Hypersensitivity	Pubtator	28605144, 31898846	Associate	★☆☆☆☆ Found in Text Mining only
Hypertension Pulmonary	Pulmonary hypertension	Pubtator	30219631	Associate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	24386202		★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoplasia of the maxilla	Hypoplasia of the maxilla	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	BEFREE	29691411		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypothyroidism	Hypothyroidism	Pubtator	29691411	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypothyroidism	Hypothyroidism	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1	Congenital hypothyroidism, nongoitrous	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Idiopathic Inflammatory Myopathies	Inflammatory Myopathy	BEFREE	25337792, 28460448, 29380533, 30992170, 31755959		★☆☆☆☆ Found in Text Mining only
IGA Glomerulonephritis	Glomerulonephritis	BEFREE	22892369		★☆☆☆☆ Found in Text Mining only
Immune System Diseases	Immune System Diseases	BEFREE	25676875		★☆☆☆☆ Found in Text Mining only
Immunoglobulin A deficiency (disorder)	Immunoglobulin A deficiency	CTD_human_DG	20694011, 27723758		★☆☆☆☆ Found in Text Mining only
Immunoglobulin A deficiency (disorder)	Immunoglobulin A deficiency	GWASCAT_DG	27723758		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Disease 25 Autosomal Recessive	Inflammatory bowel disease	Pubtator	34185153	Associate	★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	GWASCAT_DG	26192919		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	34185153, 34758847	Associate	★☆☆☆☆ Found in Text Mining only
Inflammatory dermatosis	Dermatitis	BEFREE	21531040		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kidney Diseases	Kidney Disease	BEFREE	22892369		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	22892369	Associate	★☆☆☆☆ Found in Text Mining only
Latent Autoimmune Diabetes in Adults	Latent autoimmune diabetes in adults	Pubtator	31733941	Associate	★☆☆☆☆ Found in Text Mining only
Lenticulostriate Vasculopathy	Lenticulostriate Vasculopathy	CLINVAR_DG	30965144		★☆☆☆☆ Found in Text Mining only
Leukodystrophy	Leukodystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Libman-Sacks Disease	Nonbacterial verrucal endocardiosis	CTD_human_DG	19838195, 24686847		★☆☆☆☆ Found in Text Mining only
Lipoatrophy	Lipoatrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lipodystrophy	Lipodystrophy	BEFREE	27028907		★☆☆☆☆ Found in Text Mining only
Lipodystrophy	Lipodystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	LHGDN	19154402		★☆☆☆☆ Found in Text Mining only
Lung Diseases	Lung disease	Pubtator	24989778, 35661835, 39625817	Associate	★☆☆☆☆ Found in Text Mining only
Lung Diseases Interstitial	Lung disease	Pubtator	21531040, 25331610, 30282869, 32799827, 35436746, 35661835, 35793508, 36070956, 36211445, 37985458, 38283343, 39908093	Stimulate	★☆☆☆☆ Found in Text Mining only
Lung Diseases Interstitial	Lung disease	Pubtator	22192091, 22378718, 22623119, 22886382, 24741583, 24989778, 25337792, 26414240, 26651481, 27115353, 27301523, 27888997, 28566605, 29093381, 29338781, 29642214, 29952940, 29957268, 30158335, 30333415, 30449789, 30915368, 31096460, 31301087, 32033996, 32487712, 32506053, 32691471, 32905890, 32925726, 33019894, 33032789, 33140079, 33257351, 33999578, 34368354, 34426622, 34776485, 35084311, 35236677, 35705246, 36029141, 36682032, 36837566, 37197957, 37258042, 37382274, 37551942, 37640514, 37691917, 37898737, 38098481, 38147317, 38153137, 38153165, 38167532, 39213243, 39907594	Associate	★☆☆☆☆ Found in Text Mining only
Lung Diseases, Interstitial	Lung Diseases	BEFREE	19565506, 20015976, 20498012, 21531040, 22886382, 25698373, 26424665, 27851860, 27919567, 28089977, 28331982, 28480196, 29065773, 29289262, 29417209, 29532710, 29596687, 29642214, 29665800, 29713969, 29952940, 30053975, 30060040, 30092736, 30382445, 30463865, 30616054, 30639643, 30739212, 30746580, 30851107, 30863950, 30992170, 31050194, 31092718, 31143953, 31301087, 31617496		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus	Lupus Erythematosus	BEFREE	23441136, 25777993, 28234905, 30394862, 31366715		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Discoid	Discoid lupus erythematosus	Pubtator	33879674	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	19838195, 21705624, 22046141, 23441136, 29257335, 29321042, 29930297, 30707351, 34079550, 35757684	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Discoid	Lupus Erythematosus	BEFREE	23441136, 25777993, 28234905, 30394862, 31366715		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	16804532, 19838195, 20467774, 20694011, 21268286, 21705624, 22046141, 23108955, 23441136, 23535865, 24719229, 25777993, 27813554, 28234905, 29930297, 30171347, 30394862, 30540578, 30672908, 31366715, 31681326		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lupus Erythematosus, Systemic	Lupus Erythematosus	GWASCAT_DG	19838195, 26502338		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lupus Erythematosus, Systemic	Lupus Erythematosus	CTD_human_DG	19838195, 24686847		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lupus Nephritis	Lupus nephritis	Pubtator	22892369	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Nephritis	Lupus Nephritis	BEFREE	24719229		★☆☆☆☆ Found in Text Mining only
Lupus Vulgaris	Lupus Vulgaris	BEFREE	23441136, 25777993, 28234905, 30394862, 31366715		★☆☆☆☆ Found in Text Mining only
Lymphohistiocytosis Hemophagocytic	Hemophagocytic lymphohistiocytosis	Pubtator	29984753	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	29512705		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	16804532		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	23390110, 26424665, 28917654, 29032202, 29997212, 30140893, 30344746, 30639643		★☆☆☆☆ Found in Text Mining only
Malignant Squamous Cell Neoplasm	Neoplasm	BEFREE	29950349		★☆☆☆☆ Found in Text Mining only
Mastocytosis Systemic	Systemic mastocytosis	Pubtator	36333264	Associate	★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	11805321, 20736039, 20950133, 23370279, 23774118, 24127910, 25698373, 28560754, 28919361, 29950349, 30179292, 31058016, 31434175		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
melanoma	Melanoma	LHGDN	11805321		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Melanoma	Pubtator	19620789, 24573197	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma Cutaneous Malignant	Melanoma	Pubtator	32902917	Associate	★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	19620789	Stimulate	★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	33576578	Associate	★☆☆☆☆ Found in Text Mining only
Mouth Diseases	Mouth disease	Pubtator	37117225	Associate	★☆☆☆☆ Found in Text Mining only
Mucocutaneous Lymph Node Syndrome	Kawasaki disease	Pubtator	37588055	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	25908268		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	18285833, 19156166, 19450885, 20116863, 25288302, 31733941		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	LHGDN	18285833		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	19156166, 31733941	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	GWASDB_DG	22190364		★☆☆☆☆ Found in Text Mining only
Myasthenia Gravis	Myasthenia Gravis	BEFREE	24440286		★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	BEFREE	28331982		★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	Pubtator	29346494	Associate	★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Myositis	Myositis	BEFREE	21531040, 27028907, 30461626, 30639643, 31058016, 31440381		★☆☆☆☆ Found in Text Mining only
Myositis	Myositis	Pubtator	29957268, 31096460, 32487712, 37094222, 37752437, 37898737, 38153165, 39213243, 40114239	Associate	★☆☆☆☆ Found in Text Mining only
Myositis	Myositis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Myotonic Dystrophy	Myotonic dystrophy	Pubtator	22378718, 22886382, 31096460, 31301087, 33032789, 34426622, 35436746, 35983058, 37258042, 37701443, 38147317, 38153137, 39625817, 39908093	Associate	★☆☆☆☆ Found in Text Mining only
MYOTONIC DYSTROPHY 1	Myotonic dystrophy	BEFREE	28480196, 29417209, 29642214, 29952940, 30541137, 30739212, 31301087		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	32271791	Associate	★☆☆☆☆ Found in Text Mining only
Neonatal Alloimmune Thrombocytopenia	Alloimmune Thrombocytopenia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neonatal Hypotonia	Hypotonia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	22027694		★☆☆☆☆ Found in Text Mining only
Nephrotic Syndrome	Nephrotic syndrome	Pubtator	34776485	Associate	★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	26208481, 30179292		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	26208481	Associate	★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	36851534	Inhibit	★☆☆☆☆ Found in Text Mining only
Onycholysis	Onycholysis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Oral Ulcer	Oral Ulcer	BEFREE	28619073		★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	21337319, 33782454	Associate	★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	37117225	Associate	★☆☆☆☆ Found in Text Mining only
Panniculitis	Panniculitis	Pubtator	24741583	Associate	★☆☆☆☆ Found in Text Mining only
Panniculitis	Panniculitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Paraparesis Spastic	Paraparesis	Pubtator	29782060	Associate	★☆☆☆☆ Found in Text Mining only
Paraplegia	Paraplegia	Pubtator	34453469	Associate	★☆☆☆☆ Found in Text Mining only
Penis agenesis	Penis Agenesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Peripheral demyelinating neuropathy	Demyelinating neuropathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Petechiae	Petechiae	CLINVAR_DG	30965144		★☆☆☆☆ Found in Text Mining only
Plagiocephaly	Plagiocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Polycythemia Vera	Polycythemia Vera	BEFREE	22072781		★☆☆☆☆ Found in Text Mining only
Polyglandular Type III Autoimmune Syndrome	Polyglandular autoimmune syndrome	BEFREE	26782418		★☆☆☆☆ Found in Text Mining only
Polymyositis	Polymyositis	BEFREE	20467774, 29380533		★☆☆☆☆ Found in Text Mining only
Polymyositis	Polymyositis	Pubtator	25337792, 33032789	Associate	★☆☆☆☆ Found in Text Mining only
Porencephalic cyst	Porencephalic cyst	HPO_DG			★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	16804532		★☆☆☆☆ Found in Text Mining only
Pseudo-TORCH syndrome	Pseudo-TORCH Syndrome	CTD_human_DG	24686847		★☆☆☆☆ Found in Text Mining only
Pseudohyperkalemia Cardiff	Pseudohyperkalemia Cardiff	BEFREE	30633820		★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	Pubtator	17928888	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Psoriasis	Psoriasis	BEFREE	20668468, 22152027, 24791935, 29592874		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Psoriasis	Psoriasis	CTD_human_DG	20953190		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Psoriasis	Psoriasis	GWASCAT_DG	25903422, 26974007		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Psoriasis	Psoriasis	Pubtator	35918839, 36651965, 37834254	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pulmonary arterial hypertension	Pulmonary arterial hypertension	CLINVAR_DG	30965144		★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	23384071	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	24992168, 36837566	Stimulate	★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	31170225	Inhibit	★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	27928683		★☆☆☆☆ Found in Text Mining only
Pustulosis of Palms and Soles	Palmoplantar Pustules	CTD_human_DG	20953190		★☆☆☆☆ Found in Text Mining only
Raynaud Disease	Raynaud disease	Pubtator	32487712	Associate	★☆☆☆☆ Found in Text Mining only
Raynaud Phenomenon	Raynaud Phenomenon	HPO_DG			★☆☆☆☆ Found in Text Mining only
Respiratory Failure	Respiratory Failure	BEFREE	30463865, 31420814		★☆☆☆☆ Found in Text Mining only
Respiratory Tract Infections	Respiratory system infectious disease	Pubtator	38153165	Associate	★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	17442111, 17989522, 23734776		★☆☆☆☆ Found in Text Mining only
Sarcoma Kaposi	Sarcoma	Pubtator	18155685	Associate	★☆☆☆☆ Found in Text Mining only
Scleroderma Systemic	Systemic sclerosis	Pubtator	33253099	Associate	★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Selective immunoglobulin A deficiency	Selective Immunoglobulin A Deficiency	BEFREE	20694011, 25777993, 27723758		★☆☆☆☆ Found in Text Mining only
Selective immunoglobulin A deficiency	Selective Immunoglobulin A Deficiency	GWASCAT_DG	27723758		★☆☆☆☆ Found in Text Mining only
Severe Acute Respiratory Syndrome	Severe Acute Respiratory Syndrome	BEFREE	28591694		★☆☆☆☆ Found in Text Mining only
Sex Differentiation Disorders	Sex Differentiation Disorders	BEFREE	30742689		★☆☆☆☆ Found in Text Mining only
Singleton Merten syndrome	Singleton Merten Syndrome	GENOMICS_ENGLAND_DG	25542954		★☆☆☆☆ Found in Text Mining only
Singleton Merten syndrome	Singleton Merten Syndrome	BEFREE	25620204, 26284909, 26993858, 28319323, 28475458, 28605144, 29429386, 30574673, 31366715		★☆☆☆☆ Found in Text Mining only
Singleton Merten syndrome	Singleton Merten Syndrome	ORPHANET_DG	25620204		★☆☆☆☆ Found in Text Mining only
Singleton Merten syndrome	Singleton Merten Syndrome	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Singleton-Merten dysplasia	Singleton Merten Syndrome	Orphanet			★☆☆☆☆ Found in Text Mining only
SINGLETON-MERTEN SYNDROME 1	Singleton Merten Syndrome	GENOMICS_ENGLAND_DG	25542954, 25620204, 28319323		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
SINGLETON-MERTEN SYNDROME 1	Singleton Merten Syndrome	UNIPROT_DG	25620204		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
SINGLETON-MERTEN SYNDROME 1	Singleton Merten Syndrome	CLINVAR_DG	25620204, 28319323		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Sjogren's Syndrome	Sjogren syndrome	Pubtator	29957268	Associate	★☆☆☆☆ Found in Text Mining only
Skin Diseases	Skin disease	Pubtator	37834254, 39213243	Associate	★☆☆☆☆ Found in Text Mining only
Skin Ulcer	Skin ulcer	Pubtator	21531040, 22378718, 24989778, 32487712, 39914261	Associate	★☆☆☆☆ Found in Text Mining only
Skin Ulcer	Skin ulcer	Pubtator	22623119	Stimulate	★☆☆☆☆ Found in Text Mining only
Smith-Magenis syndrome	Smith-Magenis Syndrome	BEFREE	25620204, 28475458, 31366715		★☆☆☆☆ Found in Text Mining only
Spastic paraplegia 10 autosomal dominant	Spastic paraplegia	Pubtator	29782060	Associate	★☆☆☆☆ Found in Text Mining only
Spastic paraplegia 10, autosomal dominant	Spondylometaphyseal dysplasia	BEFREE	29782060		★☆☆☆☆ Found in Text Mining only
Spastic Quadriplegia	Spastic Quadriplegia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Spastic tetraparesis	Spastic tetraparesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Spondylitis Ankylosing	Ankylosing spondylitis	Pubtator	35918839, 36651965	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	29950349		★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Subaortic stenosis	Subaortic Stenosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
T-Lymphocytopenia, Idiopathic CD4-Positive	Immunodeficiency	BEFREE	31058016		★☆☆☆☆ Found in Text Mining only
Thymoma	Thymoma	BEFREE	24440286		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid associated opthalmopathies	Thyroid eye disease	BEFREE	18026693		★☆☆☆☆ Found in Text Mining only
Thyroid Dyshormonogenesis 2A	Thyroid dyshormonogenesis	Pubtator	25829454	Associate	★☆☆☆☆ Found in Text Mining only
Thyroiditis Autoimmune	Thyroiditis	Pubtator	29973096	Associate	★☆☆☆☆ Found in Text Mining only
Trichohepatoenteric Syndrome	Trichohepatoenteric Syndrome	BEFREE	30952201		★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	GWASCAT_DG	26974007		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Vascular Calcification	Vascular calcification	Pubtator	25620204	Associate	★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular Diseases	BEFREE	21531040, 30541137		★☆☆☆☆ Found in Text Mining only
Vasculitis	Vasculitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ventricular Dysfunction Left	Ventricular dysfunction	Pubtator	35983058	Associate	★☆☆☆☆ Found in Text Mining only
Vitiligo	Vitiligo	CTD_human_DG	22561518		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Vitiligo	Vitiligo	Pubtator	30761886	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Vitiligo	Vitiligo	Pubtator	32532953	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations