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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	57379
Gene name	Activation induced cytidine deaminase
Gene symbol	AICDA
Synonyms (NCBI Gene)	AIDARP2CDA2HEL-S-284HIGM2
Chromosome	12
Chromosome location	12p13.31
Summary	This gene encodes a RNA-editing deaminase that is a member of the cytidine deaminase family. AICDA is specifically expressed and active in germinal center-like B cells. In the germinal center, AICDA is involved in somatic hypermutation, gene conversion, a

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SNP ID	Visualize variation	Clinical significance	Consequence
rs104894320	A>G	Pathogenic	Coding sequence variant, missense variant
rs104894321	A>G	Pathogenic	Coding sequence variant, missense variant
rs104894322	T>C	Pathogenic	Coding sequence variant, missense variant
rs104894323	G>T	Pathogenic	Coding sequence variant, intron variant, stop gained
rs104894324	G>A	Pathogenic	Coding sequence variant, missense variant
rs104894325	C>T	Pathogenic	Coding sequence variant, stop gained
rs104894327	A>G	Pathogenic	Coding sequence variant, intron variant, missense variant
rs186739900	T>C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs193922703	C>T	Pathogenic, likely-pathogenic	Stop gained, coding sequence variant
rs193922704	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs200858797	A>G	Pathogenic	Missense variant, coding sequence variant
rs387906328	GTAAAGAAACTTCCTCCGG>-	Pathogenic	Frameshift variant, coding sequence variant
rs387906329	GGAAGAGCA>-	Pathogenic	Inframe indel, coding sequence variant
rs762590894	A>G	Pathogenic	Coding sequence variant, missense variant
rs766361035	C>A,T	Likely-pathogenic	Intron variant, splice acceptor variant
rs769399833	G>A,C,T	Likely-pathogenic	Missense variant, stop gained, coding sequence variant, synonymous variant, 3 prime UTR variant
rs786205474	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1057519097	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1057520542	G>A	Pathogenic	Missense variant, coding sequence variant
rs1227905250	G>A,T	Likely-pathogenic	Stop gained, synonymous variant, coding sequence variant
rs1591744217	C>A	Likely-pathogenic	Missense variant, coding sequence variant

224

Show/Hide all (224)

miRTarBase ID	miRNA	Experiments	Reference
MIRT628943	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT628942	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT628941	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT628940	hsa-miR-4753-3p	HITS-CLIP	23824327
MIRT628939	hsa-miR-4768-5p	HITS-CLIP	23824327
MIRT628938	hsa-miR-6833-3p	HITS-CLIP	23824327
MIRT628937	hsa-miR-6809-3p	HITS-CLIP	23824327
MIRT628943	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT628942	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT628941	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT628940	hsa-miR-4753-3p	HITS-CLIP	23824327
MIRT628939	hsa-miR-4768-5p	HITS-CLIP	23824327
MIRT628938	hsa-miR-6833-3p	HITS-CLIP	23824327
MIRT628937	hsa-miR-6809-3p	HITS-CLIP	23824327
MIRT774045	hsa-miR-105	CLIP-seq
MIRT774046	hsa-miR-122	CLIP-seq
MIRT774047	hsa-miR-1234	CLIP-seq
MIRT774048	hsa-miR-129-5p	CLIP-seq
MIRT774049	hsa-miR-130a	CLIP-seq
MIRT774050	hsa-miR-130b	CLIP-seq
MIRT774051	hsa-miR-1343	CLIP-seq
MIRT774052	hsa-miR-150	CLIP-seq
MIRT774053	hsa-miR-1976	CLIP-seq
MIRT774054	hsa-miR-2117	CLIP-seq
MIRT774055	hsa-miR-219-1-3p	CLIP-seq
MIRT774056	hsa-miR-301a	CLIP-seq
MIRT774057	hsa-miR-301b	CLIP-seq
MIRT774058	hsa-miR-3122	CLIP-seq
MIRT774059	hsa-miR-3135b	CLIP-seq
MIRT774060	hsa-miR-3144-3p	CLIP-seq
MIRT774061	hsa-miR-3185	CLIP-seq
MIRT774062	hsa-miR-3187-3p	CLIP-seq
MIRT774063	hsa-miR-3609	CLIP-seq
MIRT774064	hsa-miR-3646	CLIP-seq
MIRT774065	hsa-miR-3652	CLIP-seq
MIRT774066	hsa-miR-3655	CLIP-seq
MIRT774067	hsa-miR-3663-5p	CLIP-seq
MIRT774068	hsa-miR-3666	CLIP-seq
MIRT774069	hsa-miR-3671	CLIP-seq
MIRT774070	hsa-miR-3689a-3p	CLIP-seq
MIRT774071	hsa-miR-3689c	CLIP-seq
MIRT774072	hsa-miR-371-5p	CLIP-seq
MIRT774073	hsa-miR-371b-5p	CLIP-seq
MIRT774074	hsa-miR-377	CLIP-seq
MIRT774075	hsa-miR-3913-5p	CLIP-seq
MIRT774076	hsa-miR-4273	CLIP-seq
MIRT774077	hsa-miR-4279	CLIP-seq
MIRT774078	hsa-miR-4295	CLIP-seq
MIRT774079	hsa-miR-431	CLIP-seq
MIRT774080	hsa-miR-4430	CLIP-seq
MIRT774081	hsa-miR-4434	CLIP-seq
MIRT774082	hsa-miR-4435	CLIP-seq
MIRT774083	hsa-miR-4454	CLIP-seq
MIRT774084	hsa-miR-4516	CLIP-seq
MIRT774085	hsa-miR-454	CLIP-seq
MIRT774086	hsa-miR-4659a-5p	CLIP-seq
MIRT774087	hsa-miR-4659b-5p	CLIP-seq
MIRT774088	hsa-miR-4677-5p	CLIP-seq
MIRT774089	hsa-miR-4693-3p	CLIP-seq
MIRT774090	hsa-miR-4701-5p	CLIP-seq
MIRT774091	hsa-miR-4709-3p	CLIP-seq
MIRT774092	hsa-miR-4716-5p	CLIP-seq
MIRT774093	hsa-miR-4722-3p	CLIP-seq
MIRT774094	hsa-miR-4755-3p	CLIP-seq
MIRT774095	hsa-miR-4764-3p	CLIP-seq
MIRT774096	hsa-miR-4776-3p	CLIP-seq
MIRT774097	hsa-miR-4778-3p	CLIP-seq
MIRT774098	hsa-miR-4781-3p	CLIP-seq
MIRT774099	hsa-miR-4803	CLIP-seq
MIRT774100	hsa-miR-498	CLIP-seq
MIRT774101	hsa-miR-5095	CLIP-seq
MIRT774102	hsa-miR-548ac	CLIP-seq
MIRT774103	hsa-miR-548ae	CLIP-seq
MIRT774104	hsa-miR-548ah	CLIP-seq
MIRT774105	hsa-miR-548aj	CLIP-seq
MIRT774106	hsa-miR-548am	CLIP-seq
MIRT774107	hsa-miR-548d-3p	CLIP-seq
MIRT774108	hsa-miR-548s	CLIP-seq
MIRT774109	hsa-miR-548x	CLIP-seq
MIRT774110	hsa-miR-548z	CLIP-seq
MIRT774111	hsa-miR-552	CLIP-seq
MIRT774112	hsa-miR-562	CLIP-seq
MIRT774113	hsa-miR-588	CLIP-seq
MIRT774114	hsa-miR-618	CLIP-seq
MIRT774115	hsa-miR-764	CLIP-seq
MIRT774116	hsa-miR-875-5p	CLIP-seq
MIRT774117	hsa-miR-888	CLIP-seq
MIRT774118	hsa-miR-891a	CLIP-seq
MIRT774119	hsa-miR-924	CLIP-seq
MIRT774048	hsa-miR-129-5p	CLIP-seq
MIRT774051	hsa-miR-1343	CLIP-seq
MIRT774052	hsa-miR-150	CLIP-seq
MIRT774053	hsa-miR-1976	CLIP-seq
MIRT1928447	hsa-miR-217	CLIP-seq
MIRT774062	hsa-miR-3187-3p	CLIP-seq
MIRT774067	hsa-miR-3663-5p	CLIP-seq
MIRT774072	hsa-miR-371-5p	CLIP-seq
MIRT774073	hsa-miR-371b-5p	CLIP-seq
MIRT774077	hsa-miR-4279	CLIP-seq
MIRT1928448	hsa-miR-4418	CLIP-seq
MIRT774082	hsa-miR-4435	CLIP-seq
MIRT774086	hsa-miR-4659a-5p	CLIP-seq
MIRT774087	hsa-miR-4659b-5p	CLIP-seq
MIRT774090	hsa-miR-4701-5p	CLIP-seq
MIRT774092	hsa-miR-4716-5p	CLIP-seq
MIRT774093	hsa-miR-4722-3p	CLIP-seq
MIRT774094	hsa-miR-4755-3p	CLIP-seq
MIRT1928449	hsa-miR-4772-3p	CLIP-seq
MIRT774096	hsa-miR-4776-3p	CLIP-seq
MIRT774098	hsa-miR-4781-3p	CLIP-seq
MIRT774100	hsa-miR-498	CLIP-seq
MIRT1928450	hsa-miR-509-3-5p	CLIP-seq
MIRT774101	hsa-miR-5095	CLIP-seq
MIRT1928451	hsa-miR-509-5p	CLIP-seq
MIRT774108	hsa-miR-548s	CLIP-seq
MIRT774111	hsa-miR-552	CLIP-seq
MIRT774112	hsa-miR-562	CLIP-seq
MIRT774113	hsa-miR-588	CLIP-seq
MIRT774046	hsa-miR-122	CLIP-seq
MIRT2169232	hsa-miR-1237	CLIP-seq
MIRT2169233	hsa-miR-1248	CLIP-seq
MIRT774049	hsa-miR-130a	CLIP-seq
MIRT774050	hsa-miR-130b	CLIP-seq
MIRT774051	hsa-miR-1343	CLIP-seq
MIRT774052	hsa-miR-150	CLIP-seq
MIRT774053	hsa-miR-1976	CLIP-seq
MIRT1928447	hsa-miR-217	CLIP-seq
MIRT774056	hsa-miR-301a	CLIP-seq
MIRT774057	hsa-miR-301b	CLIP-seq
MIRT774059	hsa-miR-3135b	CLIP-seq
MIRT774065	hsa-miR-3652	CLIP-seq
MIRT774066	hsa-miR-3655	CLIP-seq
MIRT774068	hsa-miR-3666	CLIP-seq
MIRT774077	hsa-miR-4279	CLIP-seq
MIRT774078	hsa-miR-4295	CLIP-seq
MIRT1928448	hsa-miR-4418	CLIP-seq
MIRT774080	hsa-miR-4430	CLIP-seq
MIRT774085	hsa-miR-454	CLIP-seq
MIRT2169234	hsa-miR-4695-3p	CLIP-seq
MIRT2169235	hsa-miR-4713-5p	CLIP-seq
MIRT774093	hsa-miR-4722-3p	CLIP-seq
MIRT2169236	hsa-miR-4763-5p	CLIP-seq
MIRT1928449	hsa-miR-4772-3p	CLIP-seq
MIRT774100	hsa-miR-498	CLIP-seq
MIRT1928450	hsa-miR-509-3-5p	CLIP-seq
MIRT774101	hsa-miR-5095	CLIP-seq
MIRT1928451	hsa-miR-509-5p	CLIP-seq
MIRT2169237	hsa-miR-532-3p	CLIP-seq
MIRT2169238	hsa-miR-550a	CLIP-seq
MIRT774111	hsa-miR-552	CLIP-seq
MIRT774112	hsa-miR-562	CLIP-seq
MIRT774115	hsa-miR-764	CLIP-seq
MIRT774118	hsa-miR-891a	CLIP-seq
MIRT2169239	hsa-miR-942	CLIP-seq
MIRT774052	hsa-miR-150	CLIP-seq
MIRT774051	hsa-miR-1343	CLIP-seq
MIRT774052	hsa-miR-150	CLIP-seq
MIRT774053	hsa-miR-1976	CLIP-seq
MIRT774059	hsa-miR-3135b	CLIP-seq
MIRT774065	hsa-miR-3652	CLIP-seq
MIRT774066	hsa-miR-3655	CLIP-seq
MIRT774077	hsa-miR-4279	CLIP-seq
MIRT774079	hsa-miR-431	CLIP-seq
MIRT774080	hsa-miR-4430	CLIP-seq
MIRT774093	hsa-miR-4722-3p	CLIP-seq
MIRT2443378	hsa-miR-4797-5p	CLIP-seq
MIRT774100	hsa-miR-498	CLIP-seq
MIRT774112	hsa-miR-562	CLIP-seq
MIRT774119	hsa-miR-924	CLIP-seq
MIRT2169232	hsa-miR-1237	CLIP-seq
MIRT2169233	hsa-miR-1248	CLIP-seq
MIRT774051	hsa-miR-1343	CLIP-seq
MIRT774052	hsa-miR-150	CLIP-seq
MIRT774053	hsa-miR-1976	CLIP-seq
MIRT774077	hsa-miR-4279	CLIP-seq
MIRT2464837	hsa-miR-4326	CLIP-seq
MIRT774082	hsa-miR-4435	CLIP-seq
MIRT2464838	hsa-miR-4684-5p	CLIP-seq
MIRT774093	hsa-miR-4722-3p	CLIP-seq
MIRT774100	hsa-miR-498	CLIP-seq
MIRT2169239	hsa-miR-942	CLIP-seq
MIRT774046	hsa-miR-122	CLIP-seq
MIRT774048	hsa-miR-129-5p	CLIP-seq
MIRT774051	hsa-miR-1343	CLIP-seq
MIRT774052	hsa-miR-150	CLIP-seq
MIRT774053	hsa-miR-1976	CLIP-seq
MIRT774059	hsa-miR-3135b	CLIP-seq
MIRT774065	hsa-miR-3652	CLIP-seq
MIRT774066	hsa-miR-3655	CLIP-seq
MIRT774077	hsa-miR-4279	CLIP-seq
MIRT774079	hsa-miR-431	CLIP-seq
MIRT774080	hsa-miR-4430	CLIP-seq
MIRT774093	hsa-miR-4722-3p	CLIP-seq
MIRT2471810	hsa-miR-4735-5p	CLIP-seq
MIRT2169236	hsa-miR-4763-5p	CLIP-seq
MIRT2471811	hsa-miR-4775	CLIP-seq
MIRT2471812	hsa-miR-4794	CLIP-seq
MIRT774100	hsa-miR-498	CLIP-seq
MIRT774101	hsa-miR-5095	CLIP-seq
MIRT2169238	hsa-miR-550a	CLIP-seq
MIRT774111	hsa-miR-552	CLIP-seq
MIRT774112	hsa-miR-562	CLIP-seq
MIRT2471813	hsa-miR-590-3p	CLIP-seq
MIRT774119	hsa-miR-924	CLIP-seq
MIRT2169232	hsa-miR-1237	CLIP-seq
MIRT2169233	hsa-miR-1248	CLIP-seq
MIRT774051	hsa-miR-1343	CLIP-seq
MIRT774052	hsa-miR-150	CLIP-seq
MIRT774053	hsa-miR-1976	CLIP-seq
MIRT774066	hsa-miR-3655	CLIP-seq
MIRT774077	hsa-miR-4279	CLIP-seq
MIRT774079	hsa-miR-431	CLIP-seq
MIRT2464837	hsa-miR-4326	CLIP-seq
MIRT774082	hsa-miR-4435	CLIP-seq
MIRT2464838	hsa-miR-4684-5p	CLIP-seq
MIRT774093	hsa-miR-4722-3p	CLIP-seq
MIRT2443378	hsa-miR-4797-5p	CLIP-seq
MIRT774100	hsa-miR-498	CLIP-seq
MIRT774101	hsa-miR-5095	CLIP-seq
MIRT774111	hsa-miR-552	CLIP-seq
MIRT774112	hsa-miR-562	CLIP-seq
MIRT774115	hsa-miR-764	CLIP-seq
MIRT774119	hsa-miR-924	CLIP-seq
MIRT2169239	hsa-miR-942	CLIP-seq

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Transcription factor	Regulation	Reference
TCF3	Unknown	18203819

Show/Hide all (37)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000932	Component	P-body	IBA
GO:0003723	Function	RNA binding	IBA
GO:0003824	Function	Catalytic activity	IEA
GO:0004126	Function	Cytidine deaminase activity	IBA
GO:0004126	Function	Cytidine deaminase activity	IDA	18722174
GO:0004126	Function	Cytidine deaminase activity	IEA
GO:0004126	Function	Cytidine deaminase activity	NAS	10950930
GO:0005515	Function	Protein binding	IPI	16387847, 18722174, 19412186, 21385873, 21518874, 21722948, 22085931, 26867650
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	14769937
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	14769937, 18722174
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IEA
GO:0006397	Process	MRNA processing	IEA
GO:0008270	Function	Zinc ion binding	IEA
GO:0010556	Process	Regulation of macromolecule biosynthetic process	IEA
GO:0016445	Process	Somatic diversification of immunoglobulins	IDA	18722174
GO:0016445	Process	Somatic diversification of immunoglobulins	IEA
GO:0016446	Process	Somatic hypermutation of immunoglobulin genes	IMP	21518874
GO:0016554	Process	Cytidine to uridine editing	IBA
GO:0016787	Function	Hydrolase activity	IEA
GO:0016814	Function	Hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines	IEA
GO:0030183	Process	B cell differentiation	NAS	11007475
GO:0031625	Function	Ubiquitin protein ligase binding	IPI	23277564
GO:0032991	Component	Protein-containing complex	IPI	21255825
GO:0033262	Process	Regulation of nuclear cell cycle DNA replication	IMP	19734146
GO:0042742	Process	Defense response to bacterium	IEA
GO:0042802	Function	Identical protein binding	IPI	19412186
GO:0044029	Process	Positive regulation of gene expression via chromosomal CpG island demethylation	IDA	21496894
GO:0045190	Process	Isotype switching	IEA
GO:0045869	Process	Negative regulation of single stranded viral RNA replication via double stranded DNA intermediate	IBA
GO:0046872	Function	Metal ion binding	IEA
GO:0051607	Process	Defense response to virus	IBA
GO:0070383	Process	DNA cytosine deamination	IBA
GO:0071222	Process	Cellular response to lipopolysaccharide	IEA

MIM	HGNC	e!Ensembl
605257	13203	ENSG00000111732

Q9GZX7

Protein name

Single-stranded DNA cytosine deaminase (EC 3.5.4.38) (Activation-induced cytidine deaminase) (AID) (Cytidine aminohydrolase)

Protein function

Single-stranded DNA-specific cytidine deaminase. Involved in somatic hypermutation (SHM), gene conversion, and class-switch recombination (CSR) in B-lymphocytes by deaminating C to U during transcription of Ig-variable (V) and Ig-switch (S) regi

PDB

5JJ4 , 5W0R , 5W0U , 5W0Z , 5W1C

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF18772	APOBEC2	6 → 181		Family

Tissue specificity

TISSUE SPECIFICITY: Strongly expressed in lymph nodes and tonsils. {ECO:0000269|PubMed:23166356}.

Sequence

MDSLLMNRRKFLYQFKNVRWAKGRRETYLCYVVKRRDSATSFSLDFGYLRNKNGCHVELL
FLRYISDWDLDPGRCYRVTWFTSWSPCYDCARHVADFLRGNPNLSLRIFTARLYFCEDRK
AEPEGLRRLHRAGVQIAIMTFKDYFYCWNTFVENHERTFKAWEGLHENSVRLSRQLRRIL
LPLYEVDDLRDAFRTLGL

Sequence length

198

Interactions

View interactions

	KEGG
	Intestinal immune network for IgA production Primary immunodeficiency

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)

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
AICDA-related disorder	Pathogenic; Likely pathogenic	rs1057520542, rs1260264247	RCV003912638 RCV003405393	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hyper-IgM syndrome type 2	Likely pathogenic; Pathogenic	rs772388034, rs2136431608, rs2136433359, rs2540251593, rs777729620, rs786205474, rs773521793, rs104894324, rs104894325, rs104894321, rs104894322, rs104894323, rs104894327, rs387906328, rs387906329 View all (12 more)	RCV001969612 RCV003232560 RCV002244226 RCV003037443 RCV003037444 View all (22 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (12)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
ALZHEIMER DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANKYLOSING SPONDYLITIS AND OTHER INFLAMMATORY SPONDYLOPATHIES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOIMMUNE DISEASES	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BLAST CRISIS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPER-IGM IMMUNODEFICIENCY SYNDROME	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPER-IGM IMMUNODEFICIENCY SYNDROME, TYPE 2	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperimmunoglobulin M syndrome	Benign; Uncertain significance; Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
HYPERIMMUNOGLOBULIN SYNDROME	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (231)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Acquired Hypogammaglobulinemia	Common Variable Immunodeficiency	BEFREE	15963052, 23731676		★★★★★ ★☆☆☆☆ Found in Text Mining only
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	12511417, 15613101, 17485517, 19759560, 21623761, 25003587, 29784935		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	18391550		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma Of Esophagus	Esophageal Cancer	BEFREE	21890457		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	17066440		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adult Acute Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	15613101, 17485517, 19759560, 25003587		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adult Diffuse Large B-Cell Lymphoma	B-cell Lymphoma	BEFREE	12511417, 20196672, 26077666, 28375986, 29251015, 30357811		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adult Hodgkin Lymphoma	Hodgkin Lymphoma	BEFREE	16126891, 18776814		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adult T-Cell Lymphoma/Leukemia	T-Cell Lymphoma/Leukemia	BEFREE	20974684, 22429851		★★★★★ ★☆☆☆☆ Found in Text Mining only
Agammaglobulinemia	Agammaglobulinemia	BEFREE	30240888		★★★★★ ★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	11724784, 12563035, 35246784	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Alzheimer`s Disease	Alzheimer disease	GWASCAT_DG	26830138		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	BEFREE	11112359		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ankylosing spondylitis	Ankylosing Spondylitis	BEFREE	28959900		★★★★★ ★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	26113087		★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthritis Juvenile	Juvenile arthritis	Pubtator	19703021	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	19703021, 20491788	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	14767694, 17208604		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	16539275, 21700883, 23181381, 23215867, 26898941, 27527602, 28333576, 29132233		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autoimmune Diseases	Autoimmune Diseases	CTD_human_DG	21305519		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autoimmune Diseases	Autoimmune disease	Pubtator	21700883, 21984922, 27527602, 28333576	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
B Acute Lymphoblastic Leukemia with t(9;22)(q34.1;q11.2); BCR-ABL1	Lymphoblastic Leukemia	BEFREE	26980048		★★★★★ ★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	15593119, 15940261, 16507780, 16541139, 16730063, 16882707, 17560277, 18776814, 19941823, 20189883, 21990614, 22168746, 22517589, 23363221, 23772083 View all (5 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	LHGDN	16541139, 17638864		★★★★★ ★☆☆☆☆ Found in Text Mining only
B-CELL MALIGNANCY, LOW-GRADE	Lymphocytic Leukemia	BEFREE	12855567, 15198729, 15304391, 15605425, 16720548, 17920683		★★★★★ ★☆☆☆☆ Found in Text Mining only
Barrett Epithelium	Barrett Epithelium	BEFREE	21890457		★★★★★ ★☆☆☆☆ Found in Text Mining only
Barrett Esophagus	Barrett esophagus	BEFREE	21890457, 22469133		★★★★★ ★☆☆☆☆ Found in Text Mining only
Barrett Esophagus	Barrett esophagus	Pubtator	21890457	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Behcet Syndrome	Behcet Syndrome	BEFREE	30808881		★★★★★ ★☆☆☆☆ Found in Text Mining only
beta Thalassemia	beta Thalassemia	BEFREE	11281393		★★★★★ ★☆☆☆☆ Found in Text Mining only
beta^+^ Thalassemia	beta Thalassemia	BEFREE	11281393		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	30975452		★★★★★ ★☆☆☆☆ Found in Text Mining only
Blast Phase	Blast phase chronic myelogenous leukemia	BEFREE	19732723		★★★★★ ★☆☆☆☆ Found in Text Mining only
Blast Phase	Blast phase chronic myelogenous leukemia	CTD_human_DG	21570118		★★★★★ ★☆☆☆☆ Found in Text Mining only
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)	Blepharophimosis, ptosis, and epicanthus inversus syndrome	BEFREE	31077882		★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	BEFREE	23408445		★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain neoplasms	Pubtator	23408445	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	16618718, 21196304, 23882083, 26867158, 28531800, 29100335		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	16618718, 21831295	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Bronchioloalveolar Adenocarcinoma	Lung adenocarcinoma	BEFREE	25659078		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bruton type agammaglobulinemia	Bruton type agammaglobulinemia	Pubtator	33377626	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Burkitt Lymphoma	Burkitt`s Lymphoma	BEFREE	12873980, 15061213, 15304391, 15593119, 16310251, 17240451, 18090274, 20978397, 21383964, 21831295, 22915650, 23399385, 28360415, 28707393, 9308229		★★★★★ ★☆☆☆☆ Found in Text Mining only
Burkitt Lymphoma	Burkitt`s Lymphoma	LHGDN	15061213		★★★★★ ★☆☆☆☆ Found in Text Mining only
Burkitt Lymphoma	Burkitt lymphoma	Pubtator	15304391, 15593119, 19734146, 21831295, 25099163, 27217538, 32843697, 35503749	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Burkitt Lymphoma	Burkitt lymphoma	Pubtator	40085439	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	21831295, 21890457, 23150777, 24351917, 26936395, 27485054, 27924834	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	21290192, 24316591, 30333118		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	27527602		★★★★★ ★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	15613101, 17485517, 19759560, 25003587		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	BEFREE	18306229, 19578742, 30452740		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cholangitis	Cholangitis	BEFREE	18306229		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	12444172, 12521993, 12586616, 12855567, 14961036, 15198729, 15304391, 15605425, 15902296, 16323428, 16541139, 16720548, 17920683, 20117026, 20233972 View all (11 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	LHGDN	12521993		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	18691581, 20878190		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	20878190	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	31019062		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	17459058, 18691581, 20878190, 22034886, 27799157		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	29875879	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Combined immunodeficiency	Severe combined immunodeficiency disease	BEFREE	31710310		★★★★★ ★☆☆☆☆ Found in Text Mining only
Common Variable Immunodeficiency	Common Variable Immunodeficiency	BEFREE	15963052, 23731676, 30240888		★★★★★ ★☆☆☆☆ Found in Text Mining only
Common Variable Immunodeficiency	Common variable immunodeficiency	Pubtator	20652909, 27484504, 32961586	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	14961036, 28594133, 30368590		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital contractural arachnodactyly	Congenital Contractural Arachnodactyly	BEFREE	19578742		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital dyserythropoietic anemia	Congenital dyserythropoietic anemia	BEFREE	6185913, 9345103		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital dyserythropoietic anemia, type II	Congenital dyserythropoietic anemia	BEFREE	11281393, 12667984, 12756558, 9345103		★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	18322132		★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	18322132		★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	18322132		★★★★★ ★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	8780562		★★★★★ ★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	20491788		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	BEFREE	12176079		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	28461573		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes, Autoimmune	Autoimmune Diabetes	BEFREE	29321370		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diarrhea 5 With Tufting Enteropathy Congenital	Congenital diarrhea	Pubtator	24351917	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diffuse Large B-Cell Lymphoma	Diffuse Lymphoma	BEFREE	12511417, 12873980, 15385936, 16818277, 19019431, 20196672, 26077666, 28375986, 29251015, 29335468, 29738359, 30357811		★★★★★ ★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down syndrome	Pubtator	30515165	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	BEFREE	31410926		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysgammaglobulinemia	Dysfibrinogenemia	Pubtator	19903677	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	19528036	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Familial Cold Autoinflammatory Syndrome 2	Cold autoinflammatory syndrome	Pubtator	37877365	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastric Adenocarcinoma	Gastric Cancer	BEFREE	25075050		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastritis	Gastritis	BEFREE	22469133		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastritis, Atrophic	Gastritis	BEFREE	20373075		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	BEFREE	10545602		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	23761023		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	23761023		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	22918790, 23969835, 27052944, 28380416		★★★★★ ★☆☆☆☆ Found in Text Mining only
Graves Disease	Graves Disease	BEFREE	28333576		★★★★★ ★☆☆☆☆ Found in Text Mining only
Graves Disease	Graves disease	Pubtator	28333576	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hairy Cell Leukemia	Hairy Cell Leukemia	BEFREE	18776814		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hearing Loss	Hearing loss	Pubtator	35720340	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hepatitis B	Hepatitis b	Pubtator	24025329	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hepatitis C	Hepatitis c	Pubtator	20523896, 26219420	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hepatitis C	Hepatitis c	Pubtator	20878190	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hirschsprung Disease	Hirschsprung Disease	BEFREE	26991540, 30814036		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin Disease	BEFREE	12511417, 12873980, 15732141, 16126891, 18776814		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin disease	Pubtator	16126891, 31816062, 36723991	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyper-IgM Immunodeficiency Syndrome, Type 1	Hyper-IgM Immunodeficiency Syndrome	BEFREE	11007475, 11112359, 12840068, 14564357, 14962793, 15372234, 15893695, 19575287, 19667096, 20805886, 22992148, 23538518, 23803409, 26551569, 27142677, 29255996, 30081731, 31183658 View all (3 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyper-IgM Immunodeficiency Syndrome, Type 2	Hyper-IgM Immunodeficiency Syndrome	BEFREE	11007475, 23803409, 28790320		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyper-IgM Immunodeficiency Syndrome, Type 2	Hyper-IgM Immunodeficiency Syndrome	ORPHANET_DG	11007475		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyper-IgM Immunodeficiency Syndrome, Type 2	Hyper-IgM Immunodeficiency Syndrome	UNIPROT_DG	11007475, 14962793, 23803409, 26545377, 27716525		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyper-IgM Immunodeficiency Syndrome, Type 2	Hyper-IgM Immunodeficiency Syndrome	GENOMICS_ENGLAND_DG	27701145		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyper-IgM Immunodeficiency Syndrome, Type 2	Hyper-IgM Immunodeficiency Syndrome	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyper-IgM Immunodeficiency Syndrome, Type 2	Hyper-IgM Immunodeficiency Syndrome	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyper-IgM Immunodeficiency Syndrome, Type 3	Hyper-IgM Immunodeficiency Syndrome	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyper-IgM Immunodeficiency Syndrome, Type 5	Hyper-IgM Immunodeficiency Syndrome	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyper-IgM syndrome type 2	Hyper-IgM Syndrome	Orphanet			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hypercholesterolemia, Familial	Hypercholesterolemia	BEFREE	23213176		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperimmunoglobulin M syndrome	Hyperimmunoglobulin M Syndrome	BEFREE	11007475, 11112359, 14564357, 15372234, 19022738, 19575287, 20805886, 21700883, 27142677, 29255996		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Hyperimmunoglobulin M syndrome	Hyperimmunoglobulin M Syndrome	CTD_human_DG			★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Idiopathic Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	30327882		★★★★★ ★☆☆☆☆ Found in Text Mining only
IGA Glomerulonephritis	Glomerulonephritis	BEFREE	21614556, 26166388, 29312588		★★★★★ ★☆☆☆☆ Found in Text Mining only
Immune System Diseases	Immune System Diseases	BEFREE	28933967		★★★★★ ★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	BEFREE	29500522, 31409681		★★★★★ ★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	31410926		★★★★★ ★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	18691581, 20878190, 22469133		★★★★★ ★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	20878190	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	26763879		★★★★★ ★☆☆☆☆ Found in Text Mining only
Kaposi Sarcoma	Kaposi Sarcoma	BEFREE	29266200		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	12855567, 17485517, 30571766, 35524550	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	16720548, 17485517, 29784935		★★★★★ ★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	LHGDN	17485517		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia Hairy Cell	Hairy cell leukemia	Pubtator	15284115	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, T-Cell	T-cell leukemia	BEFREE	22429851		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukopenia	Leukopenia	BEFREE	21590444		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lip and Oral Cavity Carcinoma	Lip and Oral Cavity Carcinoma	BEFREE	23634222, 29878474		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	17066440, 18997814, 24281020, 27261510		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	LHGDN	17066440		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	17066440		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	24569264		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	30333118	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	36748375	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	16539275, 25634361, 25775145		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Nephritis	Lupus Nephritis	BEFREE	16539275		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoid leukemia	Lymphoid leukemia	CTD_human_DG	23589568		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	LHGDN	12873980, 17878393		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	15732141, 16126891, 17560277, 18776814, 19941823, 20196672, 21762814, 22429855, 22517589, 22974238, 25452615, 25486549, 26077666, 26898111, 27217538, 28199309, 29335468 View all (2 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	Pubtator	19734146, 22899287, 25486549, 27217538, 28421278, 32633086, 32843697, 34884820, 35524550, 36595774	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma Follicular	Lymphoma	Pubtator	18945749, 22168746, 25311808, 26077666, 27924834, 29070849, 34884820	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma, Follicular	Lymphoma	BEFREE	12511417, 12873980, 14990977, 18945749, 19396151, 22168746, 25027518, 25860234, 26077666, 28375986, 28594133, 29070849, 30456840		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma, Follicular	Lymphoma	LHGDN	14990977		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma, Large-Cell, Follicular	Lymphoma	BEFREE	18090274		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin	Non-Hodgkin lymphoma	BEFREE	18090274, 18776814, 30555526, 31277689		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin, Familial	Lymphoma	BEFREE	18090274, 18776814		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoproliferative Disorders	Lymphoproliferative syndrome	Pubtator	15956553, 16882707	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoproliferative Disorders	Lymphoproliferative Disorder	BEFREE	27813533		★★★★★ ★☆☆☆☆ Found in Text Mining only
Machado-Joseph Disease	Machado-Joseph Disease	BEFREE	7496771		★★★★★ ★☆☆☆☆ Found in Text Mining only
Macular Degeneration	Macular degeneration	Pubtator	30996586	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant lymphoma, lymphocytic, intermediate differentiation, diffuse	Malignant lymphoma, lymphocytic, intermediate differentiation	BEFREE	12511417, 14551145, 28199309		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant lymphoma, lymphocytic, intermediate differentiation, diffuse	Malignant lymphoma, lymphocytic, intermediate differentiation	LHGDN	14551145, 17132718		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	16618718, 21196304, 23882083, 26867158, 28531800, 29100335		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	27261510		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	21290192, 24316591, 30333118		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of mouth	Malignant neoplasm of mouth	BEFREE	23634222, 29878474		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	27527602		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	23267127		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	24465888		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of skin	Skin cancer	BEFREE	26974156		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	12115587, 18391550, 19889077, 20373075, 20637757, 24918434, 28293092, 28588701, 30514953		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of thyroid	Thyroid cancer	BEFREE	30089490		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	15593119, 15940261, 16269615, 16720548, 17066440, 17560277, 18090274, 18242508, 18329947, 18598372, 18684869, 18997814, 19941823, 20667704, 20878190 View all (29 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	31019062		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mantle cell lymphoma	Mantle Cell Lymphoma	BEFREE	12511417, 14551145, 16508921, 28199309		★★★★★ ★☆☆☆☆ Found in Text Mining only
Marginal Zone B-Cell Lymphoma	B-Cell Lymphoma	BEFREE	19019431		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mediastinal (Thymic) Large B-Cell Lymphoma	B-Cell Lymphoma	BEFREE	15842661		★★★★★ ★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	24684646, 24815223, 27411958		★★★★★ ★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	27411958	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Microvillus inclusion disease	Microvillus Inclusion Disease	BEFREE	8067796		★★★★★ ★☆☆☆☆ Found in Text Mining only
MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA (disorder)	Minicore myopathy with external ophthalmoplegia	BEFREE	17631035		★★★★★ ★☆☆☆☆ Found in Text Mining only
Monoclonal B-Cell Lymphocytosis	B-Cell Lymphocytosis	BEFREE	15842661		★★★★★ ★☆☆☆☆ Found in Text Mining only
Monoclonal Gammopathy of Undetermined Significance	Monoclonal Gammapathies	BEFREE	16317092		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mouth Neoplasms	Mouth neoplasm	Pubtator	23634222, 24351917	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Mucosa-Associated Lymphoid Tissue Lymphoma	Mucosa-associated lymphoma	BEFREE	17878393, 19396151		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	12511417, 15304391, 22234692, 28544233, 30633655, 31277689, 9308229		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	28544233, 32317634, 33057009, 34625538, 36595774	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	12176079, 23167594, 29980612		★★★★★ ★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy Duchenne	Duchenne muscular dystrophy	Pubtator	33111067	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Myelodysplastic Syndromes	Myelodysplastic syndrome	Pubtator	34022778	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	19732723		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myotonic Dystrophy	Myotonic dystrophy	Pubtator	21414848	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Nasal Polyps	Nasal polyposis	BEFREE	21984922		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nasal Polyps	Nasal polyp	Pubtator	21984922	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	15304391, 15385936, 16815105, 16912177, 17401375, 17459058, 17485517, 18391550, 18997814, 19732723, 20373075, 20934970, 21079800, 22034886, 22429851 View all (14 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nephrotic Syndrome	Nephrotic syndrome	Pubtator	31352232	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	26842758		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neutropenia	Neutropenia	BEFREE	21590444		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Classical Hodgkin lymphoma	BEFREE	15732141		★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	31745979		★★★★★ ★☆☆☆☆ Found in Text Mining only
Oligospermia	Oligospermia	BEFREE	29020465		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Diseases	Ovarian diseases	Pubtator	26936395	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	27527602		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	27485054, 27527602	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	23267127		★★★★★ ★☆☆☆☆ Found in Text Mining only
Precursor B-cell lymphoblastic leukemia	Lymphoblastic Leukemia	BEFREE	26980048, 28140712, 29100269, 31804490		★★★★★ ★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	BEFREE	12511417, 15613101, 19759560		★★★★★ ★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	LHGDN	15613101, 17485517		★★★★★ ★☆☆☆☆ Found in Text Mining only
Presenile dementia	Senile Dementia	BEFREE	12176079		★★★★★ ★☆☆☆☆ Found in Text Mining only
Primary sclerosing cholangitis	Sclerosing Cholangitis	BEFREE	18306229		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	24465888		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pseudohyperkalemia Cardiff	Pseudohyperkalemia Cardiff	BEFREE	20189883		★★★★★ ★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	19703021, 20491788		★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	27523502, 27927957		★★★★★ ★☆☆☆☆ Found in Text Mining only
Selective immunoglobulin A deficiency	Selective Immunoglobulin A Deficiency	BEFREE	23731676		★★★★★ ★☆☆☆☆ Found in Text Mining only
Seminoma	Seminoma	BEFREE	16783758		★★★★★ ★☆☆☆☆ Found in Text Mining only
Severe Combined Immunodeficiency	Severe combined immunodeficiency disease	BEFREE	18836449		★★★★★ ★☆☆☆☆ Found in Text Mining only
Severe combined immunodeficiency due to adenosine deaminase deficiency	Severe combined immunodeficiency	Pubtator	11007475	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Severe combined immunodeficiency due to adenosine deaminase deficiency	Severe combined immunodeficiency	Pubtator	21700883, 27142677, 33377626	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Sjogren's Syndrome	Sjogren syndrome	Pubtator	17878393, 36541240	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Skin lesion	Skin Lesion	BEFREE	20974684		★★★★★ ★☆☆☆☆ Found in Text Mining only
Skin Neoplasms	Skin Neoplasms	BEFREE	24569264		★★★★★ ★☆☆☆☆ Found in Text Mining only
Spondylitis Ankylosing	Ankylosing spondylitis	Pubtator	28959900	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	23634222		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	22466889, 23634222, 24351917, 32775421, 37080394	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of lung	Lung carcinoma	BEFREE	30549039		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of skin	Skin carcinoma	BEFREE	26974156		★★★★★ ★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	24569264		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	18391550, 19889077, 20373075, 20637757, 24918434, 28293092, 28588701		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach Neoplasms	LHGDN	18391550		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	18391550	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	21909078	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	30089490		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Carcinoma Anaplastic	Thyroid cancer	Pubtator	31991166	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	BEFREE	30089490		★★★★★ ★☆☆☆☆ Found in Text Mining only
Transitional cell carcinoma of bladder	Bladder carcinoma	BEFREE	29593429		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	22034886		★★★★★ ★☆☆☆☆ Found in Text Mining only
Vasculitis	Vasculitis	Pubtator	26219420	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Waldenstrom Macroglobulinemia	Waldenstrom`s Macroglobulinemia	BEFREE	16317092, 27813533		★★★★★ ★☆☆☆☆ Found in Text Mining only
Waldenstrom Macroglobulinemia	Waldenstrom macroglobulinemia	Pubtator	36332058	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Wiskott-Aldrich Syndrome	Wiskott-Aldrich Syndrome	BEFREE	15385624, 28368018, 29162704, 30471998, 31564494		★★★★★ ★☆☆☆☆ Found in Text Mining only
X-Linked Combined Immunodeficiency Diseases	Combined Immunodeficiency, X-Linked	BEFREE	17553565		★★★★★ ★☆☆☆☆ Found in Text Mining only

AICDA (activation induced cytidine deaminase)