ZAP70 (zeta chain of T cell receptor associated protein kinase 70)

Gene

• Entrez ID: 7535
• Gene name: Zeta chain of T cell receptor associated protein kinase 70
• Gene symbol: ZAP70
• Synonyms (NCBI Gene): ADMIO2, IMD48, SRK, STCD, STD, TZK, ZAP-70
• Chromosome: 2
• Chromosome location: 2q11.2
• Summary: This gene encodes an enzyme belonging to the protein tyrosine kinase family, and it plays a role in T-cell development and lymphocyte activation. This enzyme, which is phosphorylated on tyrosine residues upon T-cell antigen receptor (TCR) stimulation, fun

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs104893674	C>A	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs113994172	C>A	Pathogenic	Non coding transcript variant, genic upstream transcript variant, coding sequence variant, missense variant
rs113994173	G>A	Pathogenic	Intron variant, 5 prime UTR variant
rs113994174	C>T	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs113994175	A>T	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs137853201	G>A	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs199840952	C>T	Pathogenic	Non coding transcript variant, upstream transcript variant, missense variant, coding sequence variant, genic upstream transcript variant
rs200126170	C>G	Likely-pathogenic	Coding sequence variant, non coding transcript variant, 5 prime UTR variant, stop gained
rs730880318	G>A	Pathogenic	Intron variant
rs730880319	AAGTGGTACGCAC>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs869025224	G>C	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs897972295	C>A,T	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained, genic upstream transcript variant, synonymous variant
rs1017182331	G>A	Likely-pathogenic	Non coding transcript variant, missense variant, intron variant, genic downstream transcript variant, coding sequence variant
rs1064793298	G>A	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1064793340	T>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1559328006	->T	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1573262398	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, genic upstream transcript variant, missense variant
rs1573280624	C>G	Likely-pathogenic	Coding sequence variant, non coding transcript variant, 5 prime UTR variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT005760	hsa-miR-34a-5p	Immunoblot, Luciferase reporter assay	21205967
MIRT005760	hsa-miR-34a-5p	Immunoblot, Luciferase reporter assay	21205967
MIRT005760	hsa-miR-34a-5p	Immunoblot, Luciferase reporter assay	21205967
MIRT005761	hsa-miR-34b-3p	Immunoblot, Luciferase reporter assay	21205967
MIRT005761	hsa-miR-34b-3p	Immunoblot, Luciferase reporter assay	21205967
MIRT005761	hsa-miR-34b-3p	Immunoblot, Luciferase reporter assay	21205967
MIRT005762	hsa-miR-34c-5p	Immunoblot, Luciferase reporter assay	21205967
MIRT005762	hsa-miR-34c-5p	Immunoblot, Luciferase reporter assay	21205967
MIRT005762	hsa-miR-34c-5p	Immunoblot, Luciferase reporter assay	21205967
MIRT005760	hsa-miR-34a-5p	Proteomics	21566225
MIRT005760	hsa-miR-34a-5p	Proteomics	21566225
MIRT732317	hsa-miR-631	Luciferase reporter assay, qRT-PCR, Western blot	26620225
MIRT732317	hsa-miR-631	Luciferase reporter assay, qRT-PCR, Western blot	26620225
MIRT736059	hsa-miR-370-3p	Microarray, qRT-PCR	31432183

Transcription factors

Transcription factor	Regulation	Reference
CREM	Unknown	16237091

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0001772	Component	Immunological synapse	IEA
GO:0001784	Function	Phosphotyrosine residue binding	IEA
GO:0002250	Process	Adaptive immune response	IEA
GO:0002250	Process	Adaptive immune response	TAS	20135127
GO:0002376	Process	Immune system process	IEA
GO:0004672	Function	Protein kinase activity	IEA
GO:0004713	Function	Protein tyrosine kinase activity	IBA
GO:0004713	Function	Protein tyrosine kinase activity	IDA	15292186
GO:0004713	Function	Protein tyrosine kinase activity	IEA
GO:0004713	Function	Protein tyrosine kinase activity	NAS	1423621, 8613493
GO:0004713	Function	Protein tyrosine kinase activity	TAS
GO:0004715	Function	Non-membrane spanning protein tyrosine kinase activity	IDA	9489702, 12447358
GO:0004715	Function	Non-membrane spanning protein tyrosine kinase activity	IEA
GO:0004715	Function	Non-membrane spanning protein tyrosine kinase activity	TAS	20135127
GO:0005515	Function	Protein binding	IPI	7509083, 7528772, 7761456, 8648092, 8901551, 9185620, 10318843, 10704231, 10752619, 11855827, 11891219, 12051764, 12359715, 12646565, 15832366, 16273093, 16461343, 19843936, 21957439, 22266821, 23460737, 24658140, 24728074, 26783323, 31980649
GO:0005524	Function	ATP binding	IEA
GO:0005524	Function	ATP binding	NAS	1423621
GO:0005737	Component	Cytoplasm	IDA	9489702
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	TAS	12359715
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	12150984
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS	20135127
GO:0005911	Component	Cell-cell junction	IEA
GO:0006468	Process	Protein phosphorylation	IDA	12447358
GO:0006468	Process	Protein phosphorylation	NAS	1423621
GO:0006955	Process	Immune response	IDA	1423621
GO:0007159	Process	Leukocyte cell-cell adhesion	IEA
GO:0016020	Component	Membrane	IEA
GO:0016301	Function	Kinase activity	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0018108	Process	Peptidyl-tyrosine phosphorylation	IDA	22732588
GO:0018108	Process	Peptidyl-tyrosine phosphorylation	IMP	23620790
GO:0019722	Process	Calcium-mediated signaling	IEA
GO:0030217	Process	T cell differentiation	IEA
GO:0030217	Process	T cell differentiation	NAS	8613493
GO:0035556	Process	Intracellular signal transduction	IEA
GO:0035556	Process	Intracellular signal transduction	IEA
GO:0035556	Process	Intracellular signal transduction	NAS	1423621
GO:0042101	Component	T cell receptor complex	IDA	8176201
GO:0042101	Component	T cell receptor complex	IEA
GO:0042110	Process	T cell activation	TAS	20135127
GO:0042113	Process	B cell activation	TAS	20135127
GO:0043366	Process	Beta selection	IEA
GO:0043410	Process	Positive regulation of MAPK cascade	IDA	11368773
GO:0045059	Process	Positive thymic T cell selection	IDA	7630421
GO:0045059	Process	Positive thymic T cell selection	IEA
GO:0045059	Process	Positive thymic T cell selection	IEA
GO:0045060	Process	Negative thymic T cell selection	IEA
GO:0045061	Process	Thymic T cell selection	IEA
GO:0045121	Component	Membrane raft	IDA	12150984
GO:0045582	Process	Positive regulation of T cell differentiation	IDA	7630421
GO:0045582	Process	Positive regulation of T cell differentiation	IEA
GO:0045582	Process	Positive regulation of T cell differentiation	IEA
GO:0046632	Process	Alpha-beta T cell differentiation	IEA
GO:0046638	Process	Positive regulation of alpha-beta T cell differentiation	IEA
GO:0046641	Process	Positive regulation of alpha-beta T cell proliferation	IEA
GO:0050850	Process	Positive regulation of calcium-mediated signaling	IEA
GO:0050852	Process	T cell receptor signaling pathway	IDA	11368773, 23514740, 25907557
GO:0050852	Process	T cell receptor signaling pathway	IDA	9489702, 38614099
GO:0050852	Process	T cell receptor signaling pathway	IEA
GO:0050852	Process	T cell receptor signaling pathway	IEA
GO:0050852	Process	T cell receptor signaling pathway	TAS	20135127
GO:0050900	Process	Leukocyte migration	IEA
GO:0070489	Process	T cell aggregation	TAS	20135127
GO:0072678	Process	T cell migration	TAS	20135127

Other IDs

• MIM: 176947
• HGNC: 12858
• e!Ensembl: ENSG00000115085

Protein

• UniProt ID: P43403
• Protein name: Tyrosine-protein kinase ZAP-70 (EC 2.7.10.2) (70 kDa zeta-chain associated protein) (Syk-related tyrosine kinase)
• Protein function: Tyrosine kinase that plays an essential role in regulation of the adaptive immune response. Regulates motility, adhesion and cytokine expression of mature T-cells, as well as thymocyte development. Also contributes to the development and activat
• PDB: 1FBV, 1M61, 1U59, 2CBL, 2OQ1, 2OZO, 2Y1N, 3ZNI, 4A4B, 4A4C, 4K2R, 4XZ0, 4XZ1, 5O76, 7SIY
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00017	SH2	10 → 87	SH2 domain	Domain
  PF00017	SH2	163 → 239	SH2 domain	Domain
  PF07714	PK_Tyr_Ser-Thr	338 → 593	Protein tyrosine and serine/threonine kinase	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in T- and natural killer cells. Also present in early thymocytes and pro/pre B-cells. {ECO:0000269|PubMed:1423621, ECO:0000269|PubMed:16467082, ECO:0000269|PubMed:9378960}.
• Sequence:

  MPDPAAHLPFFYGSISRAEAEEHLKLAGMADGLFLLRQCLRSLGGYVLSLVHDVRFHHFP
  IERQLNGTYAIAGGKAHCGPAELCEFYSRDPDGLPCNLRKPCNRPSGLEPQPGVFDCLRD
  AMVRDYVRQTWKLEGEALEQAIISQAPQVEKLIATTAHERMPWYHSSLTREEAERKLYSG
  AQTDGKFLLRPRKEQGTYALSLIYGKTVYHYLISQDKAGKYCIPEGTKFDTLWQLVEYLK
  LKADGLIYCLKEACPNSSASNASGAAAPTLPAHPSTLTHPQRRIDTLNSDGYTPEPARIT
  SPDKPRPMPMDTSVYESPYSDPEELKDKKLFLKRDNLLIADIELGCGNFGSVRQGVYRMR
  KKQIDVAIKVLKQGTEKADTEEMMREAQIMHQLDNPYIVRLIGVCQAEALMLVMEMAGGG
  PLHKFLVGKREEIPVSNVAELLHQVSMGMKYLEEKNFVHRDLAARNVLLVNRHYAKISDF
  GLSKALGADDSYYTARSAGKWPLKWYAPECINFRKFSSRSDVWSYGVTMWEALSYGQKPY
  KKMKGPEVMAFIEQGKRMECPPECPPELYALMSDCWIYKWEDRPDFLTVEQRMRACYYSL
  ASKVEGPPGSTQKAEAACA

• Sequence length: 619

Pathways

KEGG:

Ras signaling pathway
NF-kappa B signaling pathway
Natural killer cell mediated cytotoxicity
Th1 and Th2 cell differentiation
Th17 cell differentiation
T cell receptor signaling pathway
Yersinia infection
PD-L1 expression and PD-1 checkpoint pathway in cancer
Primary immunodeficiency

Reactome:

Translocation of ZAP-70 to Immunological synapse
Generation of second messenger molecules

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
Autoimmune disease, multisystem, infantile-onset, 2	Pathogenic; Likely pathogenic	rs869025224, rs113994174	RCV000233631 RCV006272083	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Combined immunodeficiency	Pathogenic	rs869025224, rs1573262398	RCV000208547 RCV001027642	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Combined immunodeficiency due to ZAP70 deficiency	Pathogenic; Likely pathogenic	rs1263533157, rs201207626, rs2104688189, rs754420169, rs750794851, rs1677953034, rs869025224, rs2482690458, rs730880318, rs104893674, rs730880319, rs2482741381, rs2482766787, rs2482756016, rs113994174, rs1559328006, rs1573261820, rs770985198, rs1677695565, rs200679671	RCV006271754 RCV001731179 RCV006271800 RCV006271813 RCV006271795 RCV006271910 RCV001559121 RCV003228204 RCV000014158 RCV000033208 RCV000014164 RCV006271940 RCV006271954 RCV006271957 RCV000032160 RCV006271647 RCV006271671 RCV006271670 RCV006271712 RCV006271726	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Severe combined immunodeficiency disease	Pathogenic; Likely pathogenic	rs730880318, rs113994174, rs1573261820	RCV005406742 RCV004566794 RCV003486934	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
ZAP70-related disorder	Pathogenic	rs730880318	RCV003390681	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMBINED IMMUNODEFICIENCY DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IMMUNODEFICIENCY 48	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POSTERIOR CORTICAL ATROPHY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SARCOIDOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEVERE COMBINED IMMUNODEFICIENCY	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEVERE COMBINED IMMUNODEFICIENCY, ATYPICAL	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	15996927, 16160012, 27686375		★☆☆☆☆ Found in Text Mining only
Adult Acute Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	16160012		★☆☆☆☆ Found in Text Mining only
Adult Diffuse Large B-Cell Lymphoma	B-cell Lymphoma	BEFREE	16280661		★☆☆☆☆ Found in Text Mining only
Adult Hodgkin Lymphoma	Hodgkin Lymphoma	BEFREE	15133473		★☆☆☆☆ Found in Text Mining only
Adult Oligodendroglioma	Oligodendroglioma	BEFREE	8957092		★☆☆☆☆ Found in Text Mining only
Adult T-Cell Lymphoma/Leukemia	T-Cell Lymphoma/Leukemia	BEFREE	8920891		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	26059363	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Alzheimer`s Disease	Alzheimer disease	GWASCAT_DG	26993346		★☆☆☆☆ Found in Text Mining only
Anemia Hemolytic Autoimmune	Autoimmune hemolytic anemia	Pubtator	20575031	Associate	★☆☆☆☆ Found in Text Mining only
Angioimmunoblastic Lymphadenopathy	Angioimmunoblastic T-cell lymphoma	BEFREE	15133473		★☆☆☆☆ Found in Text Mining only
Antibody Deficiency Syndrome	Antibody Deficiency Syndrome	CTD_human_DG	17767948		★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	BEFREE	15314683, 21607290, 27040161, 29980684, 30150283		★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	Pubtator	21607290, 31400229	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	21607290	Associate	★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	BEFREE	8957092		★☆☆☆☆ Found in Text Mining only
Ataxia Telangiectasia	Ataxia telangiectasia	Pubtator	37994408	Associate	★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial Fibrillation	BEFREE	30029778		★☆☆☆☆ Found in Text Mining only
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2	Autoimmune Diseases	UNIPROT_DG	26783323		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2	Autoimmune Diseases	GENOMICS_ENGLAND_DG	27288531		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2	Autoimmune Diseases	CTD_human_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2	Autoimmune Diseases	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autoimmune Diseases	Autoimmune Diseases	BEFREE	19136305, 19548248, 20864151, 26783323, 27040161, 27932698, 29058037, 29105157, 30992398		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune disease	Pubtator	20575031, 27932698, 37853951	Associate	★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases of the Nervous System	Autoimmune nervous system disorder	Pubtator	37853951	Associate	★☆☆☆☆ Found in Text Mining only
Autoimmune hemolytic anemia	Autoimmune hemolytic anemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	15133473, 15685592, 16280661, 20716805		★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	LHGDN	17926183		★☆☆☆☆ Found in Text Mining only
B-CELL MALIGNANCY, LOW-GRADE	Lymphocytic Leukemia	BEFREE	14523469, 15605425, 15759031, 15856008, 16284990, 16332969, 16519700, 16601244, 16773189, 16906577, 16906587, 16932341, 16938520, 17051526, 17265723, 17344921, 18223290, 18333847, 19247976, 19298722, 20566844, 20942870, 21519241, 22002134		★☆☆☆☆ Found in Text Mining only
Bare Lymphocyte Syndrome	Bare Lymphocyte Syndrome	CTD_human_DG	8202713		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	27585830		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	26126114	Associate	★☆☆☆☆ Found in Text Mining only
Bullous pemphigoid	Bullous Pemphigoid	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Burkitt Lymphoma	Burkitt lymphoma	Pubtator	15133473	Stimulate	★☆☆☆☆ Found in Text Mining only
Burkitt Lymphoma	Burkitt`s Lymphoma	BEFREE	15685592, 16467082		★☆☆☆☆ Found in Text Mining only
Burkitt Lymphoma	Burkitt lymphoma	Pubtator	16467082	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	36854280	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	33588862	Associate	★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	BEFREE	31486917		★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	HPO_DG			★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	16160012		★☆☆☆☆ Found in Text Mining only
Childhood Oligodendroglioma	Oligodendroglioma	BEFREE	8957092		★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	12393534, 12595313, 12724482, 14523469, 14582080, 14633781, 14726163, 15089763, 15284443, 15325098, 15329427, 15370248, 15605425, 15685592, 15759031, 15802535, 15856008, 15972449, 15996927, 16079107, 16223567, 16251535, 16266901, 16280661, 16284990, 16321852, 16332969, 16341048, 16418492, 16434371, 16467082, 16482211, 16519700, 16529606, 16551848, 16601244, 16616063, 16621959, 16773189, 16906573, 16906577, 16906580, 16906582, 16906585, 16906587, 16906588, 16916999, 16932341, 16938520, 17038529, 17051526, 17073593, 17082778, 17107912, 17210531, 17255355, 17265723, 17344921, 17476690, 17485110, 17534928, 17625948, 17654680, 17702857, 17707830, 17707831, 17786276, 17931624, 18203013, 18223290, 18314442, 18333847, 18348159, 18499249, 18577710, 18587576, 18616755, 18818986, 18849073, 18980985, 19021053, 19247976, 19267204, 19297020, 19298722, 19377082, 19438486, 19479984, 19500131, 19698929, 19715592, 19717645, 19727816, 19944462, 20164537, 20211015, 20353271, 20395517, 20425388, 20546021, 20566844, 20620972, 20657554, 20670479, 20863894, 20936047, 20942870, 21044363, 21205967, 21307146, 21408091, 21479697, 21519241, 21865343, 22002134, 22031337, 22031469, 22035742, 22086416, 22139735, 22151263, 22224978, 22237050, 22320315, 22343732, 22362302, 22564988, 22591386, 22591389, 22664044, 22820137, 22839722, 23098292, 23494726, 23597135, 24127306, 24219331, 24286263, 24312539, 24547708, 24782504, 24787006, 24845539, 24868078, 25030442, 25275600, 25280001, 25595892, 25909590, 26038121, 26219471, 26306999, 26436328, 26603518, 26717976, 26837762, 27040699, 27584054, 27718514, 28710251, 28947822, 29091884, 29125235, 29196709, 29479062, 29589978, 29680229, 30064197, 30679590		★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	LHGDN	12595313, 15856008, 15972449, 16079094, 16079107, 16263570, 16300468, 17534928, 17931624, 18577710, 18689273, 18770822, 18770856		★☆☆☆☆ Found in Text Mining only
Chronic rhinosinusitis with nasal polyps	Rhinosinusitis With Nasal Polyps	BEFREE	29961347		★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	21344162		★☆☆☆☆ Found in Text Mining only
Combined immunodeficiency	Severe combined immunodeficiency disease	BEFREE	27759478, 28124082		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Combined immunodeficiency	Severe combined immunodeficiency disease	GENOMICS_ENGLAND_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Combined immunodeficiency	Severe combined immunodeficiency disease	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Combined immunodeficiency due to ZAP70 deficiency	Severe combined immunodeficiency disease	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	15561682, 16388316, 16856923, 17485110, 18223290, 20008228, 20164537, 20880586, 21048153, 21208658, 22362302, 25445470, 25488616, 26460692, 26603518, 27221715, 27742074		★☆☆☆☆ Found in Text Mining only
Congenital keratoglobus	Congenital Keratoglobus	BEFREE	31146719		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	30015926		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	30015926	Associate	★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	23406209		★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	19136305		★☆☆☆☆ Found in Text Mining only
Dermatitis, Atopic	Dermatitis	BEFREE	18509675		★☆☆☆☆ Found in Text Mining only
Dermatologic disorders	Dermatologic Disorders	BEFREE	26453557		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	24103478, 25448703		★☆☆☆☆ Found in Text Mining only
Diffuse Large B-Cell Lymphoma	Diffuse Lymphoma	BEFREE	15685592, 16280661		★☆☆☆☆ Found in Text Mining only
DiGeorge Syndrome	DiGeorge Syndrome	BEFREE	24406074		★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	BEFREE	18509675		★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	HPO_DG			★☆☆☆☆ Found in Text Mining only
Enteropathy-Associated T-Cell Lymphoma	Enteropathy-Associated T-Cell Lymphoma	BEFREE	15133473		★☆☆☆☆ Found in Text Mining only
Eosinophilia	Eosinophilia	BEFREE	18509675		★☆☆☆☆ Found in Text Mining only
Eosinophilia	Eosinophilia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ewings sarcoma	Ewing sarcoma	BEFREE	25008066		★☆☆☆☆ Found in Text Mining only
GATA2 Deficiency	Gata2 deficiency	Pubtator	15133473	Associate	★☆☆☆☆ Found in Text Mining only
Genital ulcers	Genital ulcers	BEFREE	12567167		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	10918389, 8957092		★☆☆☆☆ Found in Text Mining only
Graft vs Host Disease	Graft-versus-host disease	Pubtator	17456058	Associate	★☆☆☆☆ Found in Text Mining only
Head and Neck Neoplasms	Head and neck neoplasm	Pubtator	35090306	Associate	★☆☆☆☆ Found in Text Mining only
Hematological Disease	Hematological Disease	LHGDN	18854088		★☆☆☆☆ Found in Text Mining only
Hemophilia, NOS	Hemophilia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Hepatitis B	Hepatitis b	Pubtator	16467082	Associate	★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin Disease	BEFREE	15133473, 15685592, 16223567		★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin disease	Pubtator	15133473	Associate	★☆☆☆☆ Found in Text Mining only
Immune System Diseases	Immune system disease	Pubtator	28415650	Associate	★☆☆☆☆ Found in Text Mining only
Immune thrombocytopenic purpura	Immune Thrombocytopenic Purpura	HPO_DG			★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	CTD_human_DG	17767948		★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	BEFREE	7953563		★☆☆☆☆ Found in Text Mining only
Ki-1+ Anaplastic Large Cell Lymphoma	Anaplastic Lymphoma	BEFREE	15297316		★☆☆☆☆ Found in Text Mining only
Kidney Failure Chronic	Kidney failure	Pubtator	25743836	Stimulate	★☆☆☆☆ Found in Text Mining only
Kniest dysplasia	Kniest Dysplasia	BEFREE	15895462		★☆☆☆☆ Found in Text Mining only
Laryngeal neoplasm	Laryngeal neoplasm	LHGDN	17375875		★☆☆☆☆ Found in Text Mining only
Laryngeal Neoplasms	Laryngeal neoplasm	Pubtator	35477402	Associate	★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	12393534, 14523469, 15856008, 22151263		★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	12724482, 15972449, 16482508, 16906585, 18024373, 18519230, 18577710, 18687687, 20014315, 20145264, 22031455, 22839722, 25953391, 36078131	Associate	★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	LHGDN	15856008, 16538501, 16642047, 18687687		★☆☆☆☆ Found in Text Mining only
Leukemia Lymphoid	Lymphoid leukemia	Pubtator	25743836	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	12763134, 25757160	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	GWASCAT_DG	27903959		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	19018007, 22235999, 37994408	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	17492476, 22235999, 27864698, 30840855		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	LHGDN	17492476		★☆☆☆☆ Found in Text Mining only
Lymphadenitis	Lymphadenitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lymphocytosis	Lymphocytosis	BEFREE	17534928		★☆☆☆☆ Found in Text Mining only
Lymphocytosis	Lymphocytosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lymphoid leukemia	Lymphoid leukemia	LHGDN	15059847, 16932341		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	LHGDN	15133473		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	16280661, 16467082, 17038529		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lymphoma Follicular	Lymphoma	Pubtator	31273513	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma, Follicular	Lymphoma	BEFREE	15133473, 15685592, 16280661		★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin	Non-Hodgkin lymphoma	BEFREE	27748274		★☆☆☆☆ Found in Text Mining only
Lymphopenia	Lymphopenia	BEFREE	18509675		★☆☆☆☆ Found in Text Mining only
Lymphoproliferative Disorders	Lymphoproliferative Disorder	BEFREE	15133473, 29684201		★☆☆☆☆ Found in Text Mining only
Lymphoproliferative Disorders	Lymphoproliferative Disorder	LHGDN	16642047		★☆☆☆☆ Found in Text Mining only
Lymphoproliferative Disorders	Lymphoproliferative Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	27585830		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	15370248, 16280661, 16482211, 16753863, 18333847, 21044363, 21969505, 28415650		★☆☆☆☆ Found in Text Mining only
Mantle cell lymphoma	Mantle Cell Lymphoma	BEFREE	12842981, 15685592, 18980985		★☆☆☆☆ Found in Text Mining only
Mesothelioma	Mesothelioma	Pubtator	21079519	Associate	★☆☆☆☆ Found in Text Mining only
Miscarriage	Miscarriage	BEFREE	19403438		★☆☆☆☆ Found in Text Mining only
Mucosa-Associated Lymphoid Tissue Lymphoma	Mucosa-associated lymphoma	BEFREE	15133473		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	14717778	Inhibit	★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	16482211		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	32238854	Associate	★☆☆☆☆ Found in Text Mining only
Mycosis Fungoides	Mycosis fungoides	Pubtator	15133473	Associate	★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	23228155		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	37274867	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	15133473, 15685592, 21344162, 23098292, 27987223, 28947822, 8609413, 8957092		★☆☆☆☆ Found in Text Mining only
Nephrotic Syndrome	Nephrotic Syndrome	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Nephrotic Syndrome	Nephrotic Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
oligodendroglioma	Oligodendroglioma	BEFREE	8957092		★☆☆☆☆ Found in Text Mining only
Omenn Syndrome	Omenn Syndrome	BEFREE	18509675, 22664165		★☆☆☆☆ Found in Text Mining only
Omenn Syndrome	Omenn Syndrome	CTD_human_DG	8202713		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	21455317	Associate	★☆☆☆☆ Found in Text Mining only
Papilloma	Papilloma	BEFREE	7747543		★☆☆☆☆ Found in Text Mining only
Paraparesis Tropical Spastic	Tropical spastic paraparesis	Pubtator	26358743	Stimulate	★☆☆☆☆ Found in Text Mining only
Paraparesis Tropical Spastic	Tropical spastic paraparesis	Pubtator	40004169	Associate	★☆☆☆☆ Found in Text Mining only
Paraproteinemias	Paraproteinemia	BEFREE	21208658		★☆☆☆☆ Found in Text Mining only
Peripheral T-Cell Lymphoma	T-Cell Lymphoma	BEFREE	15297316		★☆☆☆☆ Found in Text Mining only
Pituitary Neoplasms	Pituitary neoplasm	Pubtator	36161330	Associate	★☆☆☆☆ Found in Text Mining only
PONTOCEREBELLAR HYPOPLASIA, TYPE 1B	Pontoneocerebellar hypoplasia	BEFREE	30141626		★☆☆☆☆ Found in Text Mining only
Posterior cortical atrophy syndrome	Posterior cortical atrophy	GWASCAT_DG	26993346		★☆☆☆☆ Found in Text Mining only
Pre B-cell acute lymphoblastic leukemia	B-cell Lymphoma	BEFREE	18333847		★☆☆☆☆ Found in Text Mining only
Precursor B-cell lymphoblastic leukemia	Lymphoblastic Leukemia	BEFREE	15996927, 16280661, 16467082, 18333847		★☆☆☆☆ Found in Text Mining only
Precursor B-Cell Lymphoblastic Leukemia-Lymphoma	Lymphoblastic Leukemia	BEFREE	18333847		★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	BEFREE	15996927, 16160012, 27686375		★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	LHGDN	18333847		★☆☆☆☆ Found in Text Mining only
Primary Cutaneous Anaplastic Large Cell Lymphoma	Anaplastic Lymphoma	BEFREE	15297316		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	LHGDN	18311544		★☆☆☆☆ Found in Text Mining only
prostatitis	Prostatitis	BEFREE	28886262		★☆☆☆☆ Found in Text Mining only
Pulmonary Arterial Hypertension	Pulmonary arterial hypertension	Pubtator	33539912	Associate	★☆☆☆☆ Found in Text Mining only
Respiratory Tract Infections	Respiratory system infectious disease	Pubtator	37101133	Associate	★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	19136305, 21980439, 26245723, 31137740		★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	BEFREE	31842801		★☆☆☆☆ Found in Text Mining only
Sarcoma Ewing	Sarcoma	Pubtator	25008066	Inhibit	★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	31432183		★☆☆☆☆ Found in Text Mining only
Severe Aplastic Anemia	Anemia	BEFREE	24673455		★☆☆☆☆ Found in Text Mining only
Severe Combined Immunodeficiency	Severe combined immunodeficiency	Pubtator	11463783, 32265901, 38129328, 7561679, 8920891	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Severe Combined Immunodeficiency	Severe combined immunodeficiency disease	BEFREE	11494125, 17003514, 18509675, 21184155, 23124046, 25049080, 28124082, 7561679, 8202712, 8202713, 8920891, 9801260		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Severe Combined Immunodeficiency	Severe combined immunodeficiency disease	GENOMICS_ENGLAND_DG	27288531		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Severe Combined Immunodeficiency	Severe combined immunodeficiency disease	CTD_human_DG	8202713		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Severe combined immunodeficiency due to adenosine deaminase deficiency	Severe combined immunodeficiency	Pubtator	18218852	Associate	★☆☆☆☆ Found in Text Mining only
Severe combined immunodeficiency, atypical	Severe combined immunodeficiency disease	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Shprintzen-Goldberg syndrome	Shprintzen-Goldberg Syndrome	BEFREE	24406074		★☆☆☆☆ Found in Text Mining only
Sick Sinus Syndrome	Sick sinus syndrome	Pubtator	18024373	Associate	★☆☆☆☆ Found in Text Mining only
Spinal Muscular Atrophy	Spinal Muscular Atrophy	BEFREE	30481286		★☆☆☆☆ Found in Text Mining only
Splenomegaly	Splenomegaly	Pubtator	31122288	Associate	★☆☆☆☆ Found in Text Mining only
Spondylarthritis	Spondyloarthritis	BEFREE	30723468		★☆☆☆☆ Found in Text Mining only
Spondyloepiphyseal Dysplasia	Spondyloepiphyseal dysplasia	BEFREE	15895462		★☆☆☆☆ Found in Text Mining only
Spondyloepiphyseal dysplasia, congenita	Spondyloepiphyseal dysplasia congenita	BEFREE	15895462		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	31557242		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	28814981, 33466212, 36636556, 37988195	Associate	★☆☆☆☆ Found in Text Mining only
ST segment elevation myocardial infarction	ST Segment Elevation Myocardial Infarction	BEFREE	31092091		★☆☆☆☆ Found in Text Mining only
Stickler syndrome (disorder)	Stickler syndrome	BEFREE	15895462		★☆☆☆☆ Found in Text Mining only
Stickler syndrome, type 1	Stickler syndrome	BEFREE	15895462		★☆☆☆☆ Found in Text Mining only
Stomatitis	Stomatitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Subfertility	Subfertility	BEFREE	26656886		★☆☆☆☆ Found in Text Mining only
T cell immunodeficiency primary	T-Cell Immunodeficiency Disorders	CTD_human_DG	8124727		★☆☆☆☆ Found in Text Mining only
T-Cell Lymphoma	T-Cell Lymphoma	BEFREE	15133473, 25513989		★☆☆☆☆ Found in Text Mining only
Thrombocythemia Essential	Essential thrombocythemia	Pubtator	18849073	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	29967488	Associate	★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	23406209		★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	33204728	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	35090306, 36973995	Associate	★☆☆☆☆ Found in Text Mining only
Waldenstrom Macroglobulinemia	Waldenstrom`s Macroglobulinemia	BEFREE	15133473, 16280661		★☆☆☆☆ Found in Text Mining only
Well Differentiated Oligodendroglioma	Oligodendroglioma	BEFREE	8957092		★☆☆☆☆ Found in Text Mining only
ZAP70 deficiency	ZAP70 Deficiency	UNIPROT_DG	11123350, 11412303, 18509675, 8124727, 8202713		★☆☆☆☆ Found in Text Mining only
ZAP70 deficiency	ZAP70 Deficiency	BEFREE	19548248, 23124046, 31137740		★☆☆☆☆ Found in Text Mining only
ZAP70 deficiency	ZAP70 Deficiency	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
ZAP70 deficiency	ZAP70 Deficiency	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
ZAP70 deficiency	ZAP70 Deficiency	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only