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

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	84930
Gene name	Microtubule associated serine/threonine kinase like
Gene symbol	MASTL
Synonyms (NCBI Gene)	GREATWALLGWGWLMAST-LTHC2
Chromosome	10
Chromosome location	10p12.1
Summary	This gene encodes a microtubule-associated serine/threonine kinase. Mutations at this locus have been associated with autosomal dominant thrombocytopenia, also known as thrombocytopenia-2. Alternatively spliced transcript variants have been described for

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miRTarBase ID	miRNA	Experiments	Reference
MIRT021059	hsa-miR-155-5p	Reporter assay;Other	18668040
MIRT021059	hsa-miR-155-5p	Reporter assay;Other	20584899
MIRT047078	hsa-miR-183-5p	CLASH	23622248
MIRT126555	hsa-miR-130a-3p	HITS-CLIP	23824327
MIRT126560	hsa-miR-130b-3p	HITS-CLIP	23824327
MIRT126559	hsa-miR-301a-3p	HITS-CLIP	23824327
MIRT126577	hsa-miR-301b-3p	HITS-CLIP	23824327
MIRT126585	hsa-miR-3666	HITS-CLIP	23824327
MIRT126582	hsa-miR-4295	HITS-CLIP	23824327
MIRT126574	hsa-miR-454-3p	HITS-CLIP	23824327
MIRT663529	hsa-miR-652-3p	HITS-CLIP	23824327
MIRT663528	hsa-miR-500b-3p	HITS-CLIP	23824327
MIRT663527	hsa-miR-6773-3p	HITS-CLIP	23824327
MIRT663526	hsa-miR-215-3p	HITS-CLIP	23824327
MIRT663525	hsa-miR-3135b	HITS-CLIP	23824327
MIRT663524	hsa-miR-504-3p	HITS-CLIP	23824327
MIRT663523	hsa-miR-122-5p	HITS-CLIP	23824327
MIRT637419	hsa-miR-6789-3p	HITS-CLIP	23824327
MIRT663522	hsa-miR-566	HITS-CLIP	23824327
MIRT663521	hsa-miR-3652	HITS-CLIP	23824327
MIRT663520	hsa-miR-4430	HITS-CLIP	23824327
MIRT663519	hsa-miR-6879-3p	HITS-CLIP	23824327
MIRT663518	hsa-miR-106a-3p	HITS-CLIP	23824327
MIRT663517	hsa-miR-8057	HITS-CLIP	23824327
MIRT540375	hsa-miR-4438	HITS-CLIP	23824327
MIRT637419	hsa-miR-6789-3p	HITS-CLIP	23824327
MIRT637418	hsa-miR-3199	HITS-CLIP	23824327
MIRT637417	hsa-miR-8052	HITS-CLIP	23824327
MIRT637416	hsa-miR-365a-5p	HITS-CLIP	23824327
MIRT637415	hsa-miR-365b-5p	HITS-CLIP	23824327
MIRT540364	hsa-miR-5095	HITS-CLIP	23824327
MIRT540363	hsa-miR-7151-3p	HITS-CLIP	23824327
MIRT566814	hsa-miR-5011-5p	PAR-CLIP	20371350
MIRT566813	hsa-miR-190a-3p	PAR-CLIP	20371350
MIRT262178	hsa-miR-4795-3p	PAR-CLIP	20371350
MIRT566812	hsa-miR-1277-5p	PAR-CLIP	20371350
MIRT556234	hsa-miR-618	PAR-CLIP	21572407
MIRT556233	hsa-miR-6074	PAR-CLIP	21572407
MIRT126592	hsa-miR-4764-3p	PAR-CLIP	21572407
MIRT110538	hsa-miR-3157-5p	PAR-CLIP	21572407
MIRT126569	hsa-miR-552-5p	PAR-CLIP	21572407
MIRT126554	hsa-miR-106a-5p	PAR-CLIP	21572407
MIRT126558	hsa-miR-106b-5p	PAR-CLIP	21572407
MIRT126547	hsa-miR-17-5p	PAR-CLIP	21572407
MIRT126550	hsa-miR-20a-5p	PAR-CLIP	21572407
MIRT126562	hsa-miR-20b-5p	PAR-CLIP	21572407
MIRT126566	hsa-miR-519d-3p	PAR-CLIP	21572407
MIRT126564	hsa-miR-526b-3p	PAR-CLIP	21572407
MIRT126551	hsa-miR-93-5p	PAR-CLIP	21572407
MIRT540387	hsa-miR-302a-3p	PAR-CLIP	21572407
MIRT540386	hsa-miR-302b-3p	PAR-CLIP	21572407
MIRT540385	hsa-miR-302c-3p	PAR-CLIP	21572407
MIRT540384	hsa-miR-302d-3p	PAR-CLIP	21572407
MIRT540383	hsa-miR-302e	PAR-CLIP	21572407
MIRT540382	hsa-miR-372-3p	PAR-CLIP	21572407
MIRT540381	hsa-miR-373-3p	PAR-CLIP	21572407
MIRT540380	hsa-miR-520a-3p	PAR-CLIP	21572407
MIRT540379	hsa-miR-520b	PAR-CLIP	21572407
MIRT540378	hsa-miR-520c-3p	PAR-CLIP	21572407
MIRT540377	hsa-miR-520d-3p	PAR-CLIP	21572407
MIRT540376	hsa-miR-520e	PAR-CLIP	21572407
MIRT540375	hsa-miR-4438	PAR-CLIP	21572407
MIRT540374	hsa-miR-512-3p	PAR-CLIP	21572407
MIRT540373	hsa-miR-6504-3p	PAR-CLIP	21572407
MIRT540372	hsa-miR-520g-3p	PAR-CLIP	21572407
MIRT540371	hsa-miR-520h	PAR-CLIP	21572407
MIRT540370	hsa-miR-186-3p	PAR-CLIP	21572407
MIRT540369	hsa-miR-150-5p	PAR-CLIP	21572407
MIRT540368	hsa-miR-5186	PAR-CLIP	21572407
MIRT540367	hsa-miR-4663	PAR-CLIP	21572407
MIRT540366	hsa-miR-7160-5p	PAR-CLIP	21572407
MIRT540365	hsa-miR-8077	PAR-CLIP	21572407
MIRT540364	hsa-miR-5095	PAR-CLIP	21572407
MIRT540363	hsa-miR-7151-3p	PAR-CLIP	21572407
MIRT126558	hsa-miR-106b-5p	HITS-CLIP	22473208
MIRT021059	hsa-miR-155-5p	HITS-CLIP	22473208
MIRT126550	hsa-miR-20a-5p	HITS-CLIP	22473208
MIRT126558	hsa-miR-106b-5p	HITS-CLIP	22473208
MIRT021059	hsa-miR-155-5p	HITS-CLIP	22473208
MIRT126547	hsa-miR-17-5p	HITS-CLIP	22473208
MIRT126562	hsa-miR-20b-5p	HITS-CLIP	22473208
MIRT126551	hsa-miR-93-5p	HITS-CLIP	22473208
MIRT126566	hsa-miR-519d-3p	HITS-CLIP	22473208
MIRT126550	hsa-miR-20a-5p	HITS-CLIP	22473208
MIRT126555	hsa-miR-130a-3p	HITS-CLIP	23824327
MIRT126560	hsa-miR-130b-3p	HITS-CLIP	23824327
MIRT126559	hsa-miR-301a-3p	HITS-CLIP	23824327
MIRT126577	hsa-miR-301b-3p	HITS-CLIP	23824327
MIRT126585	hsa-miR-3666	HITS-CLIP	23824327
MIRT126582	hsa-miR-4295	HITS-CLIP	23824327
MIRT126574	hsa-miR-454-3p	HITS-CLIP	23824327
MIRT663529	hsa-miR-652-3p	HITS-CLIP	23824327
MIRT663528	hsa-miR-500b-3p	HITS-CLIP	23824327
MIRT663527	hsa-miR-6773-3p	HITS-CLIP	23824327
MIRT663526	hsa-miR-215-3p	HITS-CLIP	23824327
MIRT663525	hsa-miR-3135b	HITS-CLIP	23824327
MIRT663524	hsa-miR-504-3p	HITS-CLIP	23824327
MIRT663523	hsa-miR-122-5p	HITS-CLIP	23824327
MIRT637419	hsa-miR-6789-3p	HITS-CLIP	23824327
MIRT663522	hsa-miR-566	HITS-CLIP	23824327
MIRT663521	hsa-miR-3652	HITS-CLIP	23824327
MIRT663520	hsa-miR-4430	HITS-CLIP	23824327
MIRT663519	hsa-miR-6879-3p	HITS-CLIP	23824327
MIRT663518	hsa-miR-106a-3p	HITS-CLIP	23824327
MIRT663517	hsa-miR-8057	HITS-CLIP	23824327
MIRT540375	hsa-miR-4438	HITS-CLIP	23824327
MIRT637419	hsa-miR-6789-3p	HITS-CLIP	23824327
MIRT637418	hsa-miR-3199	HITS-CLIP	23824327
MIRT637417	hsa-miR-8052	HITS-CLIP	23824327
MIRT637416	hsa-miR-365a-5p	HITS-CLIP	23824327
MIRT637415	hsa-miR-365b-5p	HITS-CLIP	23824327
MIRT540364	hsa-miR-5095	HITS-CLIP	23824327
MIRT540363	hsa-miR-7151-3p	HITS-CLIP	23824327
MIRT566814	hsa-miR-5011-5p	PAR-CLIP	20371350
MIRT566813	hsa-miR-190a-3p	PAR-CLIP	20371350
MIRT262178	hsa-miR-4795-3p	PAR-CLIP	20371350
MIRT566812	hsa-miR-1277-5p	PAR-CLIP	20371350
MIRT556234	hsa-miR-618	PAR-CLIP	21572407
MIRT556233	hsa-miR-6074	PAR-CLIP	21572407
MIRT126592	hsa-miR-4764-3p	PAR-CLIP	21572407
MIRT110538	hsa-miR-3157-5p	PAR-CLIP	21572407
MIRT126569	hsa-miR-552-5p	PAR-CLIP	21572407
MIRT126554	hsa-miR-106a-5p	PAR-CLIP	21572407
MIRT126558	hsa-miR-106b-5p	PAR-CLIP	21572407
MIRT126547	hsa-miR-17-5p	PAR-CLIP	21572407
MIRT126550	hsa-miR-20a-5p	PAR-CLIP	21572407
MIRT126562	hsa-miR-20b-5p	PAR-CLIP	21572407
MIRT126566	hsa-miR-519d-3p	PAR-CLIP	21572407
MIRT126564	hsa-miR-526b-3p	PAR-CLIP	21572407
MIRT126551	hsa-miR-93-5p	PAR-CLIP	21572407
MIRT540387	hsa-miR-302a-3p	PAR-CLIP	21572407
MIRT540386	hsa-miR-302b-3p	PAR-CLIP	21572407
MIRT540385	hsa-miR-302c-3p	PAR-CLIP	21572407
MIRT540384	hsa-miR-302d-3p	PAR-CLIP	21572407
MIRT540383	hsa-miR-302e	PAR-CLIP	21572407
MIRT540382	hsa-miR-372-3p	PAR-CLIP	21572407
MIRT540381	hsa-miR-373-3p	PAR-CLIP	21572407
MIRT540380	hsa-miR-520a-3p	PAR-CLIP	21572407
MIRT540379	hsa-miR-520b	PAR-CLIP	21572407
MIRT540378	hsa-miR-520c-3p	PAR-CLIP	21572407
MIRT540377	hsa-miR-520d-3p	PAR-CLIP	21572407
MIRT540376	hsa-miR-520e	PAR-CLIP	21572407
MIRT540375	hsa-miR-4438	PAR-CLIP	21572407
MIRT540374	hsa-miR-512-3p	PAR-CLIP	21572407
MIRT540373	hsa-miR-6504-3p	PAR-CLIP	21572407
MIRT540372	hsa-miR-520g-3p	PAR-CLIP	21572407
MIRT540371	hsa-miR-520h	PAR-CLIP	21572407
MIRT540370	hsa-miR-186-3p	PAR-CLIP	21572407
MIRT540369	hsa-miR-150-5p	PAR-CLIP	21572407
MIRT540368	hsa-miR-5186	PAR-CLIP	21572407
MIRT540367	hsa-miR-4663	PAR-CLIP	21572407
MIRT540366	hsa-miR-7160-5p	PAR-CLIP	21572407
MIRT540365	hsa-miR-8077	PAR-CLIP	21572407
MIRT540364	hsa-miR-5095	PAR-CLIP	21572407
MIRT540363	hsa-miR-7151-3p	PAR-CLIP	21572407
MIRT1133326	hsa-miR-106a	CLIP-seq
MIRT1133327	hsa-miR-106b	CLIP-seq
MIRT1133328	hsa-miR-1304	CLIP-seq
MIRT1133329	hsa-miR-130a	CLIP-seq
MIRT1133330	hsa-miR-130b	CLIP-seq
MIRT1133331	hsa-miR-142-5p	CLIP-seq
MIRT1133332	hsa-miR-17	CLIP-seq
MIRT1133333	hsa-miR-2052	CLIP-seq
MIRT1133334	hsa-miR-20a	CLIP-seq
MIRT1133335	hsa-miR-20b	CLIP-seq
MIRT1133336	hsa-miR-24	CLIP-seq
MIRT1133337	hsa-miR-301a	CLIP-seq
MIRT1133338	hsa-miR-301b	CLIP-seq
MIRT1133339	hsa-miR-3150b-3p	CLIP-seq
MIRT1133340	hsa-miR-3609	CLIP-seq
MIRT1133341	hsa-miR-3646	CLIP-seq
MIRT1133342	hsa-miR-3677-5p	CLIP-seq
MIRT1133343	hsa-miR-3909	CLIP-seq
MIRT1133344	hsa-miR-3977	CLIP-seq
MIRT1133345	hsa-miR-4257	CLIP-seq
MIRT1133346	hsa-miR-4284	CLIP-seq
MIRT1133347	hsa-miR-4328	CLIP-seq
MIRT1133348	hsa-miR-454	CLIP-seq
MIRT1133349	hsa-miR-4639-3p	CLIP-seq
MIRT1133350	hsa-miR-4662a-3p	CLIP-seq
MIRT1133351	hsa-miR-4699-5p	CLIP-seq
MIRT1133352	hsa-miR-4709-3p	CLIP-seq
MIRT1133353	hsa-miR-4735-5p	CLIP-seq
MIRT1133354	hsa-miR-4775	CLIP-seq
MIRT1133355	hsa-miR-4784	CLIP-seq
MIRT1133356	hsa-miR-4796-3p	CLIP-seq
MIRT1133357	hsa-miR-519a	CLIP-seq
MIRT1133358	hsa-miR-519b-3p	CLIP-seq
MIRT1133359	hsa-miR-519c-3p	CLIP-seq
MIRT1133360	hsa-miR-519d	CLIP-seq
MIRT1133361	hsa-miR-548ah	CLIP-seq
MIRT1133362	hsa-miR-577	CLIP-seq
MIRT1133363	hsa-miR-582-5p	CLIP-seq
MIRT1133364	hsa-miR-590-3p	CLIP-seq
MIRT1133365	hsa-miR-93	CLIP-seq
MIRT1133326	hsa-miR-106a	CLIP-seq
MIRT1133327	hsa-miR-106b	CLIP-seq
MIRT1133329	hsa-miR-130a	CLIP-seq
MIRT1133330	hsa-miR-130b	CLIP-seq
MIRT1133331	hsa-miR-142-5p	CLIP-seq
MIRT1133332	hsa-miR-17	CLIP-seq
MIRT1133334	hsa-miR-20a	CLIP-seq
MIRT1133335	hsa-miR-20b	CLIP-seq
MIRT1133337	hsa-miR-301a	CLIP-seq
MIRT1133338	hsa-miR-301b	CLIP-seq
MIRT1133340	hsa-miR-3609	CLIP-seq
MIRT1133344	hsa-miR-3977	CLIP-seq
MIRT1133347	hsa-miR-4328	CLIP-seq
MIRT1133348	hsa-miR-454	CLIP-seq
MIRT1133356	hsa-miR-4796-3p	CLIP-seq
MIRT1133357	hsa-miR-519a	CLIP-seq
MIRT1133358	hsa-miR-519b-3p	CLIP-seq
MIRT1133359	hsa-miR-519c-3p	CLIP-seq
MIRT1133360	hsa-miR-519d	CLIP-seq
MIRT1133361	hsa-miR-548ah	CLIP-seq
MIRT1133365	hsa-miR-93	CLIP-seq
MIRT1133326	hsa-miR-106a	CLIP-seq
MIRT1133327	hsa-miR-106b	CLIP-seq
MIRT1133328	hsa-miR-1304	CLIP-seq
MIRT1133329	hsa-miR-130a	CLIP-seq
MIRT1133330	hsa-miR-130b	CLIP-seq
MIRT1133331	hsa-miR-142-5p	CLIP-seq
MIRT1133332	hsa-miR-17	CLIP-seq
MIRT1133333	hsa-miR-2052	CLIP-seq
MIRT1133334	hsa-miR-20a	CLIP-seq
MIRT1133335	hsa-miR-20b	CLIP-seq
MIRT1133337	hsa-miR-301a	CLIP-seq
MIRT1133338	hsa-miR-301b	CLIP-seq
MIRT1133340	hsa-miR-3609	CLIP-seq
MIRT1133344	hsa-miR-3977	CLIP-seq
MIRT2267974	hsa-miR-410	CLIP-seq
MIRT1133347	hsa-miR-4328	CLIP-seq
MIRT1133348	hsa-miR-454	CLIP-seq
MIRT1133350	hsa-miR-4662a-3p	CLIP-seq
MIRT1133356	hsa-miR-4796-3p	CLIP-seq
MIRT1133357	hsa-miR-519a	CLIP-seq
MIRT1133358	hsa-miR-519b-3p	CLIP-seq
MIRT1133359	hsa-miR-519c-3p	CLIP-seq
MIRT1133360	hsa-miR-519d	CLIP-seq
MIRT1133361	hsa-miR-548ah	CLIP-seq
MIRT1133362	hsa-miR-577	CLIP-seq
MIRT1133363	hsa-miR-582-5p	CLIP-seq
MIRT1133365	hsa-miR-93	CLIP-seq

Show/Hide all (33)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000086	Process	G2/M transition of mitotic cell cycle	IMP	20538976, 20818157
GO:0000166	Function	Nucleotide binding	IEA
GO:0004672	Function	Protein kinase activity	IEA
GO:0004674	Function	Protein serine/threonine kinase activity	IBA
GO:0004674	Function	Protein serine/threonine kinase activity	IDA	20538976
GO:0004674	Function	Protein serine/threonine kinase activity	IEA
GO:0004674	Function	Protein serine/threonine kinase activity	TAS
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	20538976, 20818157
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005737	Component	Cytoplasm	IEA
GO:0005813	Component	Centrosome	IDA	20538976
GO:0005813	Component	Centrosome	IEA
GO:0005856	Component	Cytoskeleton	IEA
GO:0006974	Process	DNA damage response	ISS
GO:0007147	Process	Female meiosis II	IEA
GO:0007346	Process	Regulation of mitotic cell cycle	IBA
GO:0007346	Process	Regulation of mitotic cell cycle	TAS
GO:0015630	Component	Microtubule cytoskeleton	IBA
GO:0016301	Function	Kinase activity	IDA	20818157
GO:0016301	Function	Kinase activity	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0032154	Component	Cleavage furrow	IDA	20538976, 20818157
GO:0032154	Component	Cleavage furrow	IEA
GO:0035556	Process	Intracellular signal transduction	IBA
GO:0044325	Function	Transmembrane transporter binding	IEA
GO:0051301	Process	Cell division	IEA
GO:0051721	Function	Protein phosphatase 2A binding	ISS
GO:0051726	Process	Regulation of cell cycle	IMP	20818157
GO:0106310	Function	Protein serine kinase activity	IEA

MIM	HGNC	e!Ensembl
608221	19042	ENSG00000120539

Q96GX5

Protein name

Serine/threonine-protein kinase greatwall (GW) (GWL) (hGWL) (EC 2.7.11.1) (Microtubule-associated serine/threonine-protein kinase-like) (MAST-L)

Protein function

Serine/threonine kinase that plays a key role in M phase by acting as a regulator of mitosis entry and maintenance (PubMed:19680222). Acts by promoting the inactivation of protein phosphatase 2A (PP2A) during M phase: does not directly inhibit P

PDB

5LOH , 8V5H

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00069	Pkinase	35 → 202	Protein kinase domain	Domain
PF00069	Pkinase	727 → 835	Protein kinase domain	Domain

Sequence

MDPTAGSKKEPGGGAATEEGVNRIAVPKPPSIEEFSIVKPISRGAFGKVYLGQKGGKLYA
VKVVKKADMINKNMTHQVQAERDALALSKSPFIVHLYYSLQSANNVYLVMEYLIGGDVKS
LLHIYGYFDEEMAVKYISEVALALDYLHRHGIIHRDLKPDNMLISNEGHIKLTDFGLSKV
TLNRDINMMDILTTPSMAKPRQDYSRTPGQVLSLISSLGFNTPIAEKNQDPANILSACLS
ETSQLSQGLVCPMSVDQKDTTPYSSKLLKSCLETVASNPGMPVKCLTSNLLQSRKRLATS
SASSQSHTFISSVESECHSSPKWEKDCQESDEALGPTMMSWNAVEKLCAKSANAIETKGF
NKKDLELALSPIHNSSALPTTGRSCVNLAKKCFSGEVSWEAVELDVNNINMDTDTSQLGF
HQSNQWAVDSGGISEEHLGKRSLKRNFELVDSSPCKKIIQNKKTCVEYKHNEMTNCYTNQ
NTGLTVEVQDLKLSVHKSQQNDCANKENIVNSFTDKQQTPEKLPIPMIAKNLMCELDEDC
EKNSKRDYLSSSFLCSDDDRASKNISMNSDSSFPGISIMESPLESQPLDSDRSIKESSFE
ESNIEDPLIVTPDCQEKTSPKGVENPAVQESNQKMLGPPLEVLKTLASKRNAVAFRSFNS
HINASNNSEPSRMNMTSLDAMDISCAYSGSYPMAITPTQKRRSCMPHQQTPNQIKSGTPY
RTPKSVRRGVAPVDDGRILGTPDYLAPELLLGRAHGPAVDWWALGVCLFEFLTGIPPFND
ETPQQVFQNILKRDIPWPEGEEKLSDNAQSAVEILLTIDDTKRAGMKELKRHPLFSDVDW
ENLQHQTMPFIPQPDDETDTSYFEARNTAQHLTVSGFSL

Sequence length

879

Interactions

View interactions

	Reactome
			MASTL Facilitates Mitotic Progression

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 Unknown Diseases (8)

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.
Adrenocortical carcinoma, hereditary	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autosomal dominant thrombocytopenia	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL THROMBOCYTOPENIA WITH NORMAL PLATELETS	—	Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MASTL-related disorder	Likely benign; Uncertain significance; Benign; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Scimitar anomaly, multiple cardiac malformations, and craniofacial and central nervous system abnormalities	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL LUNG CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thrombocytopenia	Benign; Likely benign; Uncertain significance; Conflicting classifications of pathogenicity	ClinVar ClinGen, Disgenet, GWAS catalog ClinGen, Disgenet, GWAS catalog	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Thrombocytopenia 2	Uncertain significance; Benign; Likely benign	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)

Show/Hide Text Mining Associations (31)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Autosomal thrombocytopenia with normal platelets	Thrombocytopenia With Normal Platelets	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Carcinoma	Breast Carcinoma	BEFREE	28617547, 29229993, 29743597, 29976159		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	28617547, 29976159, 32311005	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	30068336, 37508547	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Chromosomal Instability	Chromosomal instability	Pubtator	36787737	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	30068336		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	30068336		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	30068336, 37508547	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital thrombocytopenia	Congenital thrombocytopenia	BEFREE	22102272		★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	33627787	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Gray Platelet Syndrome	Gray Platelet Syndrome	BEFREE	22102272		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	30867746		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	24211627		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	28617547, 29229993, 29743597, 29976159		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	24211627		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	29344164		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of thyroid	Thyroid cancer	BEFREE	30445205		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	29344164, 29743597, 29976159, 30068336, 30555827		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	30068336		★★★★★ ★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	31733171	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	24211627, 28617547, 29344164, 30068336		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	26616283		★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	25808837		★★★★★ ★☆☆☆☆ Found in Text Mining only
Oestrogen receptor positive breast cancer	Oestrogen Receptor Positive Breast Cancer	BEFREE	28605876, 28617547		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	36787737	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Severe Aplastic Anemia	Anemia	GENOMICS_ENGLAND_DG	22102272, 26136524		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	29344164		★★★★★ ★☆☆☆☆ Found in Text Mining only
THROMBOCYTOPENIA 2 (disorder)	Thrombocytopenia	BEFREE	12890928, 30252678		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	30445205		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	BEFREE	30445205		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	26431489	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

MASTL (microtubule associated serine/threonine kinase like)