MAP4K5 (mitogen-activated protein kinase kinase kinase kinase 5)

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Gene miRNA Gene ontology Other IDs Protein Associated diseases Related genes Diseases linked via similar genes

Gene

• Entrez ID: 11183
• Gene name: Mitogen-activated protein kinase kinase kinase kinase 5
• Gene symbol: MAP4K5
• Synonyms (NCBI Gene): GCKR, KHS, KHS1, MAPKKKK5
• Chromosome: 14
• Chromosome location: 14q22.1
• Summary: This gene encodes a member of the serine/threonine protein kinase family, that is highly similar to yeast SPS1/STE20 kinase. Yeast SPS1/STE20 functions near the beginning of the MAP kinase signal cascades that is essential for yeast pheromone response. Th

miRNA Show/Hide all (210)

miRTarBase ID	miRNA	Experiments	Reference
MIRT536157	hsa-miR-548n	PAR-CLIP	22012620
MIRT536156	hsa-miR-548az-5p	PAR-CLIP	22012620
MIRT536155	hsa-miR-548t-5p	PAR-CLIP	22012620
MIRT536154	hsa-miR-548at-5p	PAR-CLIP	22012620
MIRT536153	hsa-miR-4667-3p	PAR-CLIP	22012620
MIRT536152	hsa-miR-3121-5p	PAR-CLIP	22012620
MIRT536151	hsa-miR-4639-5p	PAR-CLIP	22012620
MIRT440280	ebv-miR-BART7-3p	HITS-CLIP	22473208
MIRT440280	ebv-miR-BART7-3p	HITS-CLIP	22473208
MIRT536157	hsa-miR-548n	PAR-CLIP	22012620
MIRT536156	hsa-miR-548az-5p	PAR-CLIP	22012620
MIRT536155	hsa-miR-548t-5p	PAR-CLIP	22012620
MIRT536154	hsa-miR-548at-5p	PAR-CLIP	22012620
MIRT536153	hsa-miR-4667-3p	PAR-CLIP	22012620
MIRT536152	hsa-miR-3121-5p	PAR-CLIP	22012620
MIRT536151	hsa-miR-4639-5p	PAR-CLIP	22012620
MIRT1129599	hsa-miR-1273d	CLIP-seq
MIRT1129600	hsa-miR-130a	CLIP-seq
MIRT1129601	hsa-miR-130b	CLIP-seq
MIRT1129602	hsa-miR-204	CLIP-seq
MIRT1129603	hsa-miR-211	CLIP-seq
MIRT1129604	hsa-miR-301a	CLIP-seq
MIRT1129605	hsa-miR-301b	CLIP-seq
MIRT1129606	hsa-miR-3149	CLIP-seq
MIRT1129607	hsa-miR-3666	CLIP-seq
MIRT1129608	hsa-miR-3686	CLIP-seq
MIRT1129609	hsa-miR-410	CLIP-seq
MIRT1129610	hsa-miR-4287	CLIP-seq
MIRT1129611	hsa-miR-4295	CLIP-seq
MIRT1129612	hsa-miR-4422	CLIP-seq
MIRT1129613	hsa-miR-4432	CLIP-seq
MIRT1129614	hsa-miR-4452	CLIP-seq
MIRT1129615	hsa-miR-4477a	CLIP-seq
MIRT1129616	hsa-miR-4477b	CLIP-seq
MIRT1129617	hsa-miR-4503	CLIP-seq
MIRT1129618	hsa-miR-450b-5p	CLIP-seq
MIRT1129619	hsa-miR-454	CLIP-seq
MIRT1129620	hsa-miR-4671-3p	CLIP-seq
MIRT1129621	hsa-miR-4685-3p	CLIP-seq
MIRT1129622	hsa-miR-4738-3p	CLIP-seq
MIRT1129623	hsa-miR-4742-3p	CLIP-seq
MIRT1129624	hsa-miR-4778-5p	CLIP-seq
MIRT1129625	hsa-miR-499-5p	CLIP-seq
MIRT1129626	hsa-miR-548ag	CLIP-seq
MIRT1129627	hsa-miR-548ai	CLIP-seq
MIRT1129628	hsa-miR-579	CLIP-seq
MIRT1129629	hsa-miR-633	CLIP-seq
MIRT1129599	hsa-miR-1273d	CLIP-seq
MIRT1129600	hsa-miR-130a	CLIP-seq
MIRT1129601	hsa-miR-130b	CLIP-seq
MIRT1129630	hsa-miR-153	CLIP-seq
MIRT1129631	hsa-miR-186	CLIP-seq
MIRT1129632	hsa-miR-188-5p	CLIP-seq
MIRT1129633	hsa-miR-200b	CLIP-seq
MIRT1129634	hsa-miR-200c	CLIP-seq
MIRT1129602	hsa-miR-204	CLIP-seq
MIRT1129603	hsa-miR-211	CLIP-seq
MIRT1129635	hsa-miR-25	CLIP-seq
MIRT1129636	hsa-miR-2964a-3p	CLIP-seq
MIRT1129637	hsa-miR-298	CLIP-seq
MIRT1129604	hsa-miR-301a	CLIP-seq
MIRT1129605	hsa-miR-301b	CLIP-seq
MIRT1129638	hsa-miR-302f	CLIP-seq
MIRT1129639	hsa-miR-3121-3p	CLIP-seq
MIRT1129640	hsa-miR-3133	CLIP-seq
MIRT1129641	hsa-miR-3137	CLIP-seq
MIRT1129606	hsa-miR-3149	CLIP-seq
MIRT1129642	hsa-miR-3158-5p	CLIP-seq
MIRT1129643	hsa-miR-3180-5p	CLIP-seq
MIRT1129644	hsa-miR-32	CLIP-seq
MIRT1129645	hsa-miR-3529	CLIP-seq
MIRT1129646	hsa-miR-3606	CLIP-seq
MIRT1129647	hsa-miR-363	CLIP-seq
MIRT1129607	hsa-miR-3666	CLIP-seq
MIRT1129648	hsa-miR-367	CLIP-seq
MIRT1129649	hsa-miR-3682-5p	CLIP-seq
MIRT1129650	hsa-miR-369-3p	CLIP-seq
MIRT1129651	hsa-miR-379	CLIP-seq
MIRT1129652	hsa-miR-3976	CLIP-seq
MIRT1129609	hsa-miR-410	CLIP-seq
MIRT1129653	hsa-miR-4267	CLIP-seq
MIRT1129610	hsa-miR-4287	CLIP-seq
MIRT1129654	hsa-miR-429	CLIP-seq
MIRT1129611	hsa-miR-4295	CLIP-seq
MIRT1129655	hsa-miR-4305	CLIP-seq
MIRT1129612	hsa-miR-4422	CLIP-seq
MIRT1129613	hsa-miR-4432	CLIP-seq
MIRT1129656	hsa-miR-4451	CLIP-seq
MIRT1129614	hsa-miR-4452	CLIP-seq
MIRT1129616	hsa-miR-4477b	CLIP-seq
MIRT1129657	hsa-miR-448	CLIP-seq
MIRT1129658	hsa-miR-4495	CLIP-seq
MIRT1129618	hsa-miR-450b-5p	CLIP-seq
MIRT1129619	hsa-miR-454	CLIP-seq
MIRT1129659	hsa-miR-4650-3p	CLIP-seq
MIRT1129620	hsa-miR-4671-3p	CLIP-seq
MIRT1129660	hsa-miR-4678	CLIP-seq
MIRT1129621	hsa-miR-4685-3p	CLIP-seq
MIRT1129661	hsa-miR-4703-3p	CLIP-seq
MIRT1129662	hsa-miR-4766-5p	CLIP-seq
MIRT1129663	hsa-miR-4803	CLIP-seq
MIRT1129664	hsa-miR-491-3p	CLIP-seq
MIRT1129665	hsa-miR-495	CLIP-seq
MIRT1129625	hsa-miR-499-5p	CLIP-seq
MIRT1129666	hsa-miR-513a-5p	CLIP-seq
MIRT1129667	hsa-miR-548a-5p	CLIP-seq
MIRT1129668	hsa-miR-548ab	CLIP-seq
MIRT1129626	hsa-miR-548ag	CLIP-seq
MIRT1129627	hsa-miR-548ai	CLIP-seq
MIRT1129669	hsa-miR-548ak	CLIP-seq
MIRT1129670	hsa-miR-548b-5p	CLIP-seq
MIRT1129671	hsa-miR-548c-3p	CLIP-seq
MIRT1129672	hsa-miR-548c-5p	CLIP-seq
MIRT1129673	hsa-miR-548d-5p	CLIP-seq
MIRT1129674	hsa-miR-548h	CLIP-seq
MIRT1129675	hsa-miR-548i	CLIP-seq
MIRT1129676	hsa-miR-548j	CLIP-seq
MIRT1129677	hsa-miR-548k	CLIP-seq
MIRT1129678	hsa-miR-548l	CLIP-seq
MIRT1129679	hsa-miR-548p	CLIP-seq
MIRT1129680	hsa-miR-548w	CLIP-seq
MIRT1129681	hsa-miR-548y	CLIP-seq
MIRT1129682	hsa-miR-559	CLIP-seq
MIRT1129683	hsa-miR-570	CLIP-seq
MIRT1129628	hsa-miR-579	CLIP-seq
MIRT1129684	hsa-miR-586	CLIP-seq
MIRT1129685	hsa-miR-92a	CLIP-seq
MIRT1129686	hsa-miR-92b	CLIP-seq
MIRT2036941	hsa-miR-520d-5p	CLIP-seq
MIRT2036942	hsa-miR-524-5p	CLIP-seq
MIRT1129606	hsa-miR-3149	CLIP-seq
MIRT2267033	hsa-miR-3662	CLIP-seq
MIRT2267034	hsa-miR-4795-3p	CLIP-seq
MIRT2566711	hsa-miR-103b	CLIP-seq
MIRT2566712	hsa-miR-1305	CLIP-seq
MIRT2566713	hsa-miR-1343	CLIP-seq
MIRT1129632	hsa-miR-188-5p	CLIP-seq
MIRT1129602	hsa-miR-204	CLIP-seq
MIRT1129603	hsa-miR-211	CLIP-seq
MIRT2566714	hsa-miR-3074-5p	CLIP-seq
MIRT2566715	hsa-miR-3125	CLIP-seq
MIRT2566716	hsa-miR-3127-3p	CLIP-seq
MIRT1129641	hsa-miR-3137	CLIP-seq
MIRT2566717	hsa-miR-3182	CLIP-seq
MIRT2566718	hsa-miR-329	CLIP-seq
MIRT2566719	hsa-miR-362-3p	CLIP-seq
MIRT1129608	hsa-miR-3686	CLIP-seq
MIRT2566720	hsa-miR-3690	CLIP-seq
MIRT2566721	hsa-miR-3916	CLIP-seq
MIRT2566722	hsa-miR-3941	CLIP-seq
MIRT2566723	hsa-miR-4254	CLIP-seq
MIRT2566724	hsa-miR-4263	CLIP-seq
MIRT1129610	hsa-miR-4287	CLIP-seq
MIRT1129613	hsa-miR-4432	CLIP-seq
MIRT1129616	hsa-miR-4477b	CLIP-seq
MIRT1129621	hsa-miR-4685-3p	CLIP-seq
MIRT1129661	hsa-miR-4703-3p	CLIP-seq
MIRT1129623	hsa-miR-4742-3p	CLIP-seq
MIRT2566725	hsa-miR-4759	CLIP-seq
MIRT1129663	hsa-miR-4803	CLIP-seq
MIRT1129625	hsa-miR-499-5p	CLIP-seq
MIRT2036941	hsa-miR-520d-5p	CLIP-seq
MIRT2036942	hsa-miR-524-5p	CLIP-seq
MIRT1129626	hsa-miR-548ag	CLIP-seq
MIRT1129627	hsa-miR-548ai	CLIP-seq
MIRT2566726	hsa-miR-548u	CLIP-seq
MIRT1129683	hsa-miR-570	CLIP-seq
MIRT2566727	hsa-miR-603	CLIP-seq
MIRT2566728	hsa-miR-877	CLIP-seq
MIRT2566729	hsa-miR-892a	CLIP-seq
MIRT2566712	hsa-miR-1305	CLIP-seq
MIRT1129632	hsa-miR-188-5p	CLIP-seq
MIRT1129602	hsa-miR-204	CLIP-seq
MIRT2684556	hsa-miR-2053	CLIP-seq
MIRT1129603	hsa-miR-211	CLIP-seq
MIRT2566716	hsa-miR-3127-3p	CLIP-seq
MIRT1129641	hsa-miR-3137	CLIP-seq
MIRT2684557	hsa-miR-3163	CLIP-seq
MIRT2566717	hsa-miR-3182	CLIP-seq
MIRT2566718	hsa-miR-329	CLIP-seq
MIRT2684558	hsa-miR-340	CLIP-seq
MIRT2566719	hsa-miR-362-3p	CLIP-seq
MIRT1129608	hsa-miR-3686	CLIP-seq
MIRT2566722	hsa-miR-3941	CLIP-seq
MIRT2566724	hsa-miR-4263	CLIP-seq
MIRT1129610	hsa-miR-4287	CLIP-seq
MIRT1129613	hsa-miR-4432	CLIP-seq
MIRT1129616	hsa-miR-4477b	CLIP-seq
MIRT1129617	hsa-miR-4503	CLIP-seq
MIRT1129621	hsa-miR-4685-3p	CLIP-seq
MIRT1129661	hsa-miR-4703-3p	CLIP-seq
MIRT2684559	hsa-miR-4729	CLIP-seq
MIRT2684560	hsa-miR-4733-5p	CLIP-seq
MIRT1129622	hsa-miR-4738-3p	CLIP-seq
MIRT1129623	hsa-miR-4742-3p	CLIP-seq
MIRT2684561	hsa-miR-4760-3p	CLIP-seq
MIRT1129624	hsa-miR-4778-5p	CLIP-seq
MIRT1129663	hsa-miR-4803	CLIP-seq
MIRT1129625	hsa-miR-499-5p	CLIP-seq
MIRT2036941	hsa-miR-520d-5p	CLIP-seq
MIRT2036942	hsa-miR-524-5p	CLIP-seq
MIRT1129626	hsa-miR-548ag	CLIP-seq
MIRT1129627	hsa-miR-548ai	CLIP-seq
MIRT2684562	hsa-miR-548g	CLIP-seq
MIRT1129679	hsa-miR-548p	CLIP-seq
MIRT1129683	hsa-miR-570	CLIP-seq
MIRT1129628	hsa-miR-579	CLIP-seq
MIRT2566727	hsa-miR-603	CLIP-seq
MIRT2684563	hsa-miR-664	CLIP-seq
MIRT2684564	hsa-miR-873	CLIP-seq

Gene ontology (GO) Show/Hide all (23)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000165	Process	MAPK cascade	IEA
GO:0000166	Function	Nucleotide binding	IEA
GO:0004672	Function	Protein kinase activity	IEA
GO:0004672	Function	Protein kinase activity	TAS	9038372
GO:0004674	Function	Protein serine/threonine kinase activity	IDA	9038372
GO:0004674	Function	Protein serine/threonine kinase activity	IEA
GO:0005515	Function	Protein binding	IPI	9788432, 17474147, 19380743, 20936779, 21706016, 28514442, 32707033, 33961781
GO:0005524	Function	ATP binding	IDA	9038372
GO:0005524	Function	ATP binding	IEA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	9038372
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005886	Component	Plasma membrane	IDA
GO:0005929	Component	Cilium	IDA
GO:0008349	Function	MAP kinase kinase kinase kinase activity	IBA
GO:0008349	Function	MAP kinase kinase kinase kinase activity	IEA
GO:0016301	Function	Kinase activity	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0035556	Process	Intracellular signal transduction	IBA
GO:0035556	Process	Intracellular signal transduction	IDA	9038372
GO:0035556	Process	Intracellular signal transduction	IEA
GO:0106310	Function	Protein serine kinase activity	IEA

Other IDs

• MIM: 604923
• HGNC: 6867
• e!Ensembl: ENSG00000012983

Protein

• UniProt ID: Q9Y4K4
• Protein name: Mitogen-activated protein kinase kinase kinase kinase 5 (EC 2.7.11.1) (Kinase homologous to SPS1/STE20) (KHS) (MAPK/ERK kinase kinase kinase 5) (MEK kinase kinase 5) (MEKKK 5)
• Protein function: May play a role in the response to environmental stress. Appears to act upstream of the JUN N-terminal pathway.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00780	CNH	516 → 816	CNH domain	Family
  PF00069	Pkinase	20 → 277	Protein kinase domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Ubiquitously expressed in all tissues examined, with high levels in the ovary, testis and prostate. {ECO:0000269|PubMed:9038372}.
• Sequence:

  MEAPLRPAADILRRNPQQDYELVQRVGSGTYGDVYKARNVHTGELAAVKIIKLEPGDDFS
  LIQQEIFMVKECKHCNIVAYFGSYLSREKLWICMEYCGGGSLQDIYHVTGPLSELQIAYV
  CRETLQGLAYLHTKGKMHRDIKGANILLTDHGDVKLADFGVAAKITATIAKRKSFIGTPY
  WMAPEVAAVEKNGGYNQLCDIWAVGITAIELGELQPPMFDLHPMRALFLMSKSNFQPPKL
  KDKTKWSSTFHNFVKIALTKNPKKRPTAERLLTHTFVAQPGLSRALAVELLDKVNNPDNH
  AHYTEADDDDFEPHAIIRHTIRSTNRNARAERTASEINFDKLQFEPPLRKETEARDEMGL
  SSDPNFMLQWNPFVDGANTGKSTSKRAIPPPLPPKPRISSYPEDNFPDEEKASTIKHCPD
  SESRAPQILRRQSSPSCGPVAETSSIGNGDGISKLMSENTEGSAQAPQLPRKKDKRDFPK
  PAINGLPPTPKVLMGACFSKVFDGCPLKINCATSWIHPDTKDQYIIFGTEDGIYTLNLNE
  LHEATMEQLFPRKCTWLYVINNTLMSLSVGKTFQLYSHNLIALFEHAKKPGLAAHIQTHR
  FPDRILPRKFALTTKIPDTKGCHKCCIVRNPYTGHKYLCGALQSGIVLLQWYEPMQKFML
  IKHFDFPLPSPLNVFEMLVIPEQEYPMVCVAISKGTESNQVVQFETINLNSASSWFTEIG
  AGSQQLDSIHVTQLERDTVLVCLDKFVKIVNLQGKLKSSKKLASELSFDFRIESVVCLQD
  SVLAFWKHGMQGKSFKSDEVTQEISDETRVFRLLGSDRVVVLESRPTENPTAHSNLYILA
  GHENSY

• Sequence length: 846

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)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
ASTROCYTOMA	—	GWAS catalog	36810956	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DUPUYTREN CONTRACTURE	—	GWAS catalog	38172110	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPASTIC PARAPLEGIA 3, AUTOSOMAL DOMINANT	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining Show/Hide Text Mining Associations (117)
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adult T-Cell Lymphoma/Leukemia	T-Cell Lymphoma/Leukemia	BEFREE	23482931		★☆☆☆☆ Found in Text Mining only
Ankylosing spondylitis	Ankylosing Spondylitis	GWASCAT_DG	26974007		★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	27023625		★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	26433129		★☆☆☆☆ Found in Text Mining only
Arthritis, Gouty	Gouty arthritis	GWASDB_DG	20884846, 21768215, 23263486		★☆☆☆☆ Found in Text Mining only
Arthritis, Gouty	Gouty arthritis	GWASCAT_DG	25646370, 27899376, 31578528		★☆☆☆☆ Found in Text Mining only
Arthritis, Gouty	Gouty arthritis	BEFREE	26290326		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	26433129		★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial Fibrillation	GWASCAT_DG	27790247		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	28446149	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	32762045	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	27023625	Inhibit	★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	20661421, 35085396	Associate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	28516783		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	GWASCAT_DG	30595370		★☆☆☆☆ Found in Text Mining only
Carotid Artery Diseases	Carotid artery disease	Pubtator	35999016	Associate	★☆☆☆☆ Found in Text Mining only
Carotid Stenosis	Carotid artery stenosis	Pubtator	35999016	Associate	★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	GWASCAT_DG	27790247		★☆☆☆☆ Found in Text Mining only
Cholangitis, Sclerosing	Cholangitis	GWASCAT_DG	26974007		★☆☆☆☆ Found in Text Mining only
Cholelithiasis	Cholecystolithiasis	Pubtator	40428345	Associate	★☆☆☆☆ Found in Text Mining only
Chronic kidney disease stage 5	Kidney Disease	BEFREE	21980298		★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	GWASDB_DG	20383146, 22479191		★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	21411509, 21980298, 24535998, 30352097		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	22354904	Inhibit	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	22354904, 30476131	Associate	★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	12601168		★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	24385677, 30352097		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	24385677, 30352097, 31713012		★☆☆☆☆ Found in Text Mining only
Coronary Disease	Coronary artery disease	Pubtator	20661421, 24385677	Associate	★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	GWASDB_DG	21347282		★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	24385677, 30352097		★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	GWASCAT_DG	27790247		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	GWASDB_DG	18587394, 21102463		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	GWASCAT_DG	21102463, 26192919, 26974007, 28067908		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	27153721		★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	16699725, 18596051, 21236713, 21511510, 21525158, 22015968, 23185617, 24918535, 28516783		★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	GWASCAT_DG	27790247, 31511532		★☆☆☆☆ Found in Text Mining only
Diabetes Gestational	Gestational diabetes	Pubtator	27554451, 36313769, 37524927	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	16699725, 18596051, 21236713, 21511510, 21525158, 22015968, 23185617, 24918535, 25646370, 26578543, 28516783		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	19073768, 20661421, 21114848, 21236713, 21525158, 22015968, 26578543, 27322064, 27406814, 29844224, 36240780, 36585034	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	21525158	Inhibit	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	GWASCAT_DG	27790247, 31511532		★☆☆☆☆ Found in Text Mining only
Diabetes mellitus autosomal dominant type II (disorder)	Diabetes Mellitus	BEFREE	16731834		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	18439548, 18556336, 19073768, 20081858, 20628598, 20668700, 21114848, 21236713, 21411509, 21421807, 21569451, 22553379, 23557707, 26252223, 26599349, 26927145, 27322064, 30055620, 31924263, 35657990, 37829557	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	24918535		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	15891936, 16401311, 16699725, 18008060, 18556336, 19241058, 20081858, 20574426, 20628598, 20668700, 20878272, 21114848, 21236713, 21411509, 21421807, 21511510, 21525158, 21569451, 22038520, 23193183, 23307301, 23456907, 23840762, 25167786, 25599387, 25976242, 26432016, 26578543, 26599349, 26620281, 26927145, 27146014, 28683826, 29296001, 29410004, 30055620, 30091126, 30176313, 31756311		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	GWASDB_DG	17463246, 22325160		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	CTD_human_DG	20081858		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	GWASCAT_DG	22885922, 28869590, 29632382, 30054458, 30595370, 30718926		★☆☆☆☆ Found in Text Mining only
Diabetes, Autoimmune	Autoimmune Diabetes	BEFREE	24918535		★☆☆☆☆ Found in Text Mining only
Dyslipidemias	Dyslipidemias	BEFREE	18008060, 18556336, 18853134, 19241058, 21569451, 22517333, 26432016, 29858861, 31369557		★☆☆☆☆ Found in Text Mining only
Dyslipidemias	Dyslipidemias	LHGDN	18556336		★☆☆☆☆ Found in Text Mining only
Dyslipidemias	Dyslipidemias	Pubtator	18556336, 21569451, 22517333, 31924263	Associate	★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty Liver	BEFREE	22105854, 23022226, 24498332, 28594920, 29314568, 29648650		★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty liver	Pubtator	22105854, 23416328, 24498332, 28594920, 29648650, 35620859, 35881683, 36904112	Associate	★☆☆☆☆ Found in Text Mining only
Fatty Liver Alcoholic	Fatty liver, alcoholic	Pubtator	26845607, 36240780	Associate	★☆☆☆☆ Found in Text Mining only
Fatty Liver Disease	Fatty Liver	BEFREE	23275357, 27015186		★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	BEFREE	24498332		★☆☆☆☆ Found in Text Mining only
Gout	Gout	GWASDB_DG	20884846, 21768215, 23263486		★☆☆☆☆ Found in Text Mining only
Gout	Gout	GWASCAT_DG	25646370, 27899376, 31578528		★☆☆☆☆ Found in Text Mining only
Gout	Gout	Pubtator	25646370, 26290326, 28642574, 28679452, 28932319, 29976226, 35633389	Associate	★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	12601168		★☆☆☆☆ Found in Text Mining only
Heart Failure	Heart failure	Pubtator	12601168	Associate	★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	GWASCAT_DG	27790247		★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	BEFREE	16731834, 18556336, 21421807, 22553379, 27146014, 30257192		★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	Pubtator	18556336, 20185807, 21421807, 22553379, 30375486	Associate	★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	Pubtator	18556336	Inhibit	★☆☆☆☆ Found in Text Mining only
Hyperinsulinism	Hyperinsulinism	Pubtator	20185807	Associate	★☆☆☆☆ Found in Text Mining only
Hyperlipoproteinemia Type V	Hyperlipoproteinemia	Pubtator	19656773	Associate	★☆☆☆☆ Found in Text Mining only
Hypertriglyceridemia	Hypertriglyceridemia	Pubtator	19056598, 20657596, 22105854, 26043229, 27403930, 32115487	Associate	★☆☆☆☆ Found in Text Mining only
Hyperuricemia	Hyperuricemia	BEFREE	23022226, 28679452		★☆☆☆☆ Found in Text Mining only
Hyperuricemia	Hyperuricemia	Pubtator	23238572, 35365700	Associate	★☆☆☆☆ Found in Text Mining only
Hypoglycemia	Hypoglycemia	Pubtator	17082186, 23990951	Associate	★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	GWASCAT_DG	26192919, 28067908		★☆☆☆☆ Found in Text Mining only
Insulin Resistance	Diabetes mellitus, type 2	Pubtator	18556336, 20661421, 21525158, 21674002, 22791750, 23383164, 28225792, 32556615, 34872092, 37829557	Associate	★☆☆☆☆ Found in Text Mining only
insulinoma	Insulinoma	BEFREE	10794734, 30983961		★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	19847674		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	26432016		★☆☆☆☆ Found in Text Mining only
Kidney Failure Chronic	Kidney failure	Pubtator	21980298	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Failure, Chronic	Kidney Failure	GWASCAT_DG	20383146, 29124443		★☆☆☆☆ Found in Text Mining only
Kidney Failure, Chronic	Kidney Failure	BEFREE	21980298		★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid	Myeloid leukemia	Pubtator	9949177	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	31522654	Associate	★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver cirrhosis	Pubtator	24498332	Associate	★☆☆☆☆ Found in Text Mining only
Liver Diseases	Liver disease	Pubtator	27752939, 32443539, 37686209	Associate	★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	Pubtator	36924053	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	35999016	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	22015968, 27023625		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	GWASCAT_DG	27790247		★☆☆☆☆ Found in Text Mining only
Maturity onset diabetes mellitus in young	Mason type diabetes	BEFREE	18439548, 7508874		★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic syndrome	Pubtator	21411509, 37829557	Associate	★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	28385800		★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome	Metabolic syndrome	Pubtator	18439548, 18556336, 20661421, 21114848, 21674002, 24785259, 26136510, 26174136, 31910446, 35328045, 35397593	Associate	★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	18556336, 18853134, 21114848, 21511510, 21674002, 24785259, 26136510, 26799416, 27878529, 31796261		★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	GWASCAT_DG	21386085, 22399527, 29632305, 30382898		★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	GWASDB_DG	22399527		★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	36240780	Associate	★☆☆☆☆ Found in Text Mining only
Monogenic diabetes	Monogenic Diabetes	BEFREE	24918535		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	21071687		★☆☆☆☆ Found in Text Mining only
Myocardial Ischemia	Myocardial Ischemia	BEFREE	21071687		★☆☆☆☆ Found in Text Mining only
Neural Tube Defects	Neural Tube Defect	BEFREE	25369983		★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	20625834, 22095588, 24477042, 24498332, 24785259, 25167786, 25597287, 27146014, 28436986, 28695325, 29314568, 29487372, 29595690, 30444569, 30646922, 30659533, 30710115, 31255630, 31278377, 31713012		★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	GWASCAT_DG	29385134		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	12739015, 16699725, 19241058, 21511510, 21796137, 26043229, 26578543, 28436986, 29296001, 29531563		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	22105854, 24477042, 26043229, 27322064, 27377425, 27752939, 28446149, 29307798, 30710115, 31924263, 36627697, 37829557	Associate	★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	Pubtator	35349660	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	22015968, 27023625		★☆☆☆☆ Found in Text Mining only
Pancreatic Ductal Adenocarcinoma	Pancreatic adenocarcinoma	BEFREE	27023625		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	22015968, 27023625	Associate	★☆☆☆☆ Found in Text Mining only
Pediatric Obesity	Childhood obesity	BEFREE	21511510		★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	BEFREE	27878529		★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	GWASCAT_DG	26974007		★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	BEFREE	31668939		★☆☆☆☆ Found in Text Mining only
Spina Bifida	Spina Bifida	BEFREE	25369983		★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	22105854, 23022226, 23275357, 24498332, 28594920, 29314568, 29648650		★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	GWASCAT_DG	26974007		★☆☆☆☆ Found in Text Mining only
Urolithiasis	Urolithiasis	GWASCAT_DG	30975718		★☆☆☆☆ Found in Text Mining only

Related Genes

Sort by: Blended Diseases Pathways Evidence source

HS3ST3A1 1 shared diseaseDupuytren contracture 2 shared evidence sourcesGWAS catalog (Astrocytoma), GWAS catalog (Dupuytren contracture) Related via 1 shared disease including Dupuytren contracture — evidence mostly GWAS catalog. DSTYK 2 shared diseasesSpastic paraplegia, Dupuytren contracture 2 shared evidence sourcesDisgenet (Spastic paraplegia), GWAS catalog (Dupuytren contracture) Related via 2 shared diseases including Spastic paraplegia, Dupuytren contracture — evidence mostly Disgenet. ATL1 2 shared diseasesSpastic paraplegia, Dupuytren contracture 2 shared evidence sourcesDisgenet (Spastic paraplegia), GWAS catalog (Dupuytren contracture) Related via 2 shared diseases including Spastic paraplegia, Dupuytren contracture — evidence mostly Disgenet. SDK1 1 shared diseaseDupuytren contracture 2 shared evidence sourcesGWAS catalog (Astrocytoma), GWAS catalog (Dupuytren contracture) Related via 1 shared disease including Dupuytren contracture — evidence mostly GWAS catalog. WNT7B 1 shared diseaseDupuytren contracture 2 shared evidence sourcesGWAS catalog (Astrocytoma), GWAS catalog (Dupuytren contracture) Related via 1 shared disease including Dupuytren contracture — evidence mostly GWAS catalog.

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
HS3ST3A1	1	["Dupuytren contracture"]	0	[]	2	["GWAS catalog (Astrocytoma)","GWAS catalog (Dupuytren contracture)"]
DSTYK	2	["Spastic paraplegia","Dupuytren contracture"]	0	[]	2	["Disgenet (Spastic paraplegia)","GWAS catalog (Dupuytren contracture)"]
ATL1	2	["Spastic paraplegia","Dupuytren contracture"]	0	[]	2	["Disgenet (Spastic paraplegia)","GWAS catalog (Dupuytren contracture)"]
SDK1	1	["Dupuytren contracture"]	0	[]	2	["GWAS catalog (Astrocytoma)","GWAS catalog (Dupuytren contracture)"]
WNT7B	1	["Dupuytren contracture"]	0	[]	2	["GWAS catalog (Astrocytoma)","GWAS catalog (Dupuytren contracture)"]

Diseases Linked via Similar Genes

Asthma Linked via 2 of 5 related genesHS3ST3A1, SDK1 Oligodendroglioma Linked via 2 of 5 related genesHS3ST3A1, SDK1 Obstructive pulmonary disease Linked via 2 of 5 related genesDSTYK, ATL1 Colorectal cancer Linked via 2 of 5 related genesDSTYK, WNT7B Hereditary spastic paraplegia Linked via 2 of 5 related genesDSTYK, ATL1

Disease	Linked Via (Gene Count)	Linked Via (Gene Names)
Asthma	2	["HS3ST3A1","SDK1"]
Oligodendroglioma	2	["HS3ST3A1","SDK1"]
Obstructive pulmonary disease	2	["DSTYK","ATL1"]
Colorectal cancer	2	["DSTYK","WNT7B"]
Hereditary spastic paraplegia	2	["DSTYK","ATL1"]