ENSA (endosulfine alpha)

Download as csv Download as pdf

Log in to save this analysis

Save This Analysis

Title Project / Tag (optional) Note (optional)

Cancel Save

On this page

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

Gene

• Entrez ID: 2029
• Gene name: Endosulfine alpha
• Gene symbol: ENSA
• Synonyms (NCBI Gene): ARPP-19e
• Chromosome: 1
• Chromosome location: 1q21.3
• Summary: The protein encoded by this gene belongs to a highly conserved cAMP-regulated phosphoprotein (ARPP) family. This protein was identified as an endogenous ligand for the sulfonylurea receptor, ABCC8/SUR1. ABCC8 is the regulatory subunit of the ATP-sensitive

miRNA Show/Hide all (307)

miRTarBase ID	miRNA	Experiments	Reference
MIRT051695	hsa-let-7e-5p	CLASH	23622248
MIRT036994	hsa-miR-877-3p	CLASH	23622248
MIRT676892	hsa-miR-6813-3p	HITS-CLIP	23824327
MIRT676891	hsa-miR-1245a	HITS-CLIP	23824327
MIRT676890	hsa-miR-8079	HITS-CLIP	23824327
MIRT676889	hsa-miR-6513-3p	HITS-CLIP	23824327
MIRT676888	hsa-miR-1224-3p	HITS-CLIP	23824327
MIRT676887	hsa-miR-212-5p	HITS-CLIP	23824327
MIRT676886	hsa-miR-371b-5p	HITS-CLIP	23824327
MIRT676885	hsa-miR-373-5p	HITS-CLIP	23824327
MIRT676884	hsa-miR-616-5p	HITS-CLIP	23824327
MIRT676883	hsa-miR-371a-5p	HITS-CLIP	23824327
MIRT676882	hsa-miR-372-5p	HITS-CLIP	23824327
MIRT676881	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT676880	hsa-miR-3663-5p	HITS-CLIP	23824327
MIRT676879	hsa-miR-6790-3p	HITS-CLIP	23824327
MIRT676878	hsa-miR-6821-3p	HITS-CLIP	23824327
MIRT676877	hsa-miR-4757-5p	HITS-CLIP	23824327
MIRT676876	hsa-miR-6744-3p	HITS-CLIP	23824327
MIRT676875	hsa-miR-378a-5p	HITS-CLIP	23824327
MIRT676874	hsa-miR-640	HITS-CLIP	23824327
MIRT676873	hsa-miR-6878-3p	HITS-CLIP	23824327
MIRT676872	hsa-miR-6843-3p	HITS-CLIP	23824327
MIRT676871	hsa-miR-6848-3p	HITS-CLIP	23824327
MIRT636582	hsa-miR-6890-3p	HITS-CLIP	23824327
MIRT636581	hsa-miR-6741-3p	HITS-CLIP	23824327
MIRT636580	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT636579	hsa-miR-1307-3p	HITS-CLIP	23824327
MIRT636578	hsa-miR-4638-5p	HITS-CLIP	23824327
MIRT636577	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT636576	hsa-miR-6791-3p	HITS-CLIP	23824327
MIRT636575	hsa-miR-6829-3p	HITS-CLIP	23824327
MIRT636574	hsa-miR-4284	HITS-CLIP	23824327
MIRT636573	hsa-miR-5001-3p	HITS-CLIP	23824327
MIRT636572	hsa-miR-6836-3p	HITS-CLIP	23824327
MIRT560478	hsa-miR-4428	PAR-CLIP	20371350
MIRT560476	hsa-miR-4463	PAR-CLIP	20371350
MIRT560477	hsa-miR-6873-5p	PAR-CLIP	20371350
MIRT560475	hsa-miR-5584-5p	PAR-CLIP	20371350
MIRT560474	hsa-miR-873-3p	PAR-CLIP	20371350
MIRT560473	hsa-miR-6124	PAR-CLIP	20371350
MIRT560472	hsa-miR-7-5p	PAR-CLIP	20371350
MIRT560471	hsa-miR-6077	PAR-CLIP	20371350
MIRT560470	hsa-miR-4668-5p	PAR-CLIP	20371350
MIRT676892	hsa-miR-6813-3p	HITS-CLIP	23824327
MIRT676891	hsa-miR-1245a	HITS-CLIP	23824327
MIRT676890	hsa-miR-8079	HITS-CLIP	23824327
MIRT676889	hsa-miR-6513-3p	HITS-CLIP	23824327
MIRT676888	hsa-miR-1224-3p	HITS-CLIP	23824327
MIRT676887	hsa-miR-212-5p	HITS-CLIP	23824327
MIRT676886	hsa-miR-371b-5p	HITS-CLIP	23824327
MIRT676885	hsa-miR-373-5p	HITS-CLIP	23824327
MIRT676884	hsa-miR-616-5p	HITS-CLIP	23824327
MIRT676883	hsa-miR-371a-5p	HITS-CLIP	23824327
MIRT676882	hsa-miR-372-5p	HITS-CLIP	23824327
MIRT676881	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT676880	hsa-miR-3663-5p	HITS-CLIP	23824327
MIRT676879	hsa-miR-6790-3p	HITS-CLIP	23824327
MIRT676878	hsa-miR-6821-3p	HITS-CLIP	23824327
MIRT676877	hsa-miR-4757-5p	HITS-CLIP	23824327
MIRT676876	hsa-miR-6744-3p	HITS-CLIP	23824327
MIRT676875	hsa-miR-378a-5p	HITS-CLIP	23824327
MIRT676874	hsa-miR-640	HITS-CLIP	23824327
MIRT676873	hsa-miR-6878-3p	HITS-CLIP	23824327
MIRT676872	hsa-miR-6843-3p	HITS-CLIP	23824327
MIRT676871	hsa-miR-6848-3p	HITS-CLIP	23824327
MIRT636582	hsa-miR-6890-3p	HITS-CLIP	23824327
MIRT636581	hsa-miR-6741-3p	HITS-CLIP	23824327
MIRT636580	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT636579	hsa-miR-1307-3p	HITS-CLIP	23824327
MIRT636578	hsa-miR-4638-5p	HITS-CLIP	23824327
MIRT636577	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT636576	hsa-miR-6791-3p	HITS-CLIP	23824327
MIRT636575	hsa-miR-6829-3p	HITS-CLIP	23824327
MIRT636574	hsa-miR-4284	HITS-CLIP	23824327
MIRT636573	hsa-miR-5001-3p	HITS-CLIP	23824327
MIRT636572	hsa-miR-6836-3p	HITS-CLIP	23824327
MIRT560478	hsa-miR-4428	PAR-CLIP	20371350
MIRT560476	hsa-miR-4463	PAR-CLIP	20371350
MIRT560477	hsa-miR-6873-5p	PAR-CLIP	20371350
MIRT560475	hsa-miR-5584-5p	PAR-CLIP	20371350
MIRT560474	hsa-miR-873-3p	PAR-CLIP	20371350
MIRT560473	hsa-miR-6124	PAR-CLIP	20371350
MIRT560472	hsa-miR-7-5p	PAR-CLIP	20371350
MIRT560471	hsa-miR-6077	PAR-CLIP	20371350
MIRT560470	hsa-miR-4668-5p	PAR-CLIP	20371350
MIRT964153	hsa-miR-1	CLIP-seq
MIRT964154	hsa-miR-150	CLIP-seq
MIRT964155	hsa-miR-1587	CLIP-seq
MIRT964156	hsa-miR-206	CLIP-seq
MIRT964157	hsa-miR-2355-5p	CLIP-seq
MIRT964158	hsa-miR-3121-5p	CLIP-seq
MIRT964159	hsa-miR-3145-3p	CLIP-seq
MIRT964160	hsa-miR-3145-5p	CLIP-seq
MIRT964161	hsa-miR-3151	CLIP-seq
MIRT964162	hsa-miR-3170	CLIP-seq
MIRT964163	hsa-miR-3653	CLIP-seq
MIRT964164	hsa-miR-3658	CLIP-seq
MIRT964165	hsa-miR-4286	CLIP-seq
MIRT964166	hsa-miR-4307	CLIP-seq
MIRT964167	hsa-miR-4437	CLIP-seq
MIRT964168	hsa-miR-4447	CLIP-seq
MIRT964169	hsa-miR-4472	CLIP-seq
MIRT964170	hsa-miR-4674	CLIP-seq
MIRT964171	hsa-miR-4691-5p	CLIP-seq
MIRT964172	hsa-miR-4713-5p	CLIP-seq
MIRT964173	hsa-miR-4760-3p	CLIP-seq
MIRT964174	hsa-miR-485-3p	CLIP-seq
MIRT964175	hsa-miR-491-5p	CLIP-seq
MIRT964176	hsa-miR-532-3p	CLIP-seq
MIRT964177	hsa-miR-574-3p	CLIP-seq
MIRT964178	hsa-miR-613	CLIP-seq
MIRT964179	hsa-miR-760	CLIP-seq
MIRT964180	hsa-miR-873	CLIP-seq
MIRT964153	hsa-miR-1	CLIP-seq
MIRT964181	hsa-miR-101	CLIP-seq
MIRT964182	hsa-miR-1184	CLIP-seq
MIRT964183	hsa-miR-1205	CLIP-seq
MIRT964184	hsa-miR-1207-5p	CLIP-seq
MIRT964185	hsa-miR-1225-3p	CLIP-seq
MIRT964186	hsa-miR-1260	CLIP-seq
MIRT964187	hsa-miR-1260b	CLIP-seq
MIRT964188	hsa-miR-1266	CLIP-seq
MIRT964189	hsa-miR-1302	CLIP-seq
MIRT964190	hsa-miR-1321	CLIP-seq
MIRT964191	hsa-miR-139-5p	CLIP-seq
MIRT964192	hsa-miR-147b	CLIP-seq
MIRT964154	hsa-miR-150	CLIP-seq
MIRT964193	hsa-miR-188-3p	CLIP-seq
MIRT964156	hsa-miR-206	CLIP-seq
MIRT964194	hsa-miR-28-5p	CLIP-seq
MIRT964195	hsa-miR-298	CLIP-seq
MIRT964196	hsa-miR-3120-3p	CLIP-seq
MIRT964197	hsa-miR-3120-5p	CLIP-seq
MIRT964198	hsa-miR-3125	CLIP-seq
MIRT964199	hsa-miR-3126-3p	CLIP-seq
MIRT964200	hsa-miR-3128	CLIP-seq
MIRT964201	hsa-miR-3139	CLIP-seq
MIRT964159	hsa-miR-3145-3p	CLIP-seq
MIRT964160	hsa-miR-3145-5p	CLIP-seq
MIRT964161	hsa-miR-3151	CLIP-seq
MIRT964202	hsa-miR-3156-3p	CLIP-seq
MIRT964203	hsa-miR-3157-5p	CLIP-seq
MIRT964204	hsa-miR-3158-5p	CLIP-seq
MIRT964205	hsa-miR-3194-3p	CLIP-seq
MIRT964206	hsa-miR-3200-5p	CLIP-seq
MIRT964163	hsa-miR-3653	CLIP-seq
MIRT964164	hsa-miR-3658	CLIP-seq
MIRT964207	hsa-miR-3660	CLIP-seq
MIRT964208	hsa-miR-3662	CLIP-seq
MIRT964209	hsa-miR-3664-3p	CLIP-seq
MIRT964210	hsa-miR-3670	CLIP-seq
MIRT964211	hsa-miR-3907	CLIP-seq
MIRT964212	hsa-miR-3910	CLIP-seq
MIRT964213	hsa-miR-3916	CLIP-seq
MIRT964214	hsa-miR-409-3p	CLIP-seq
MIRT964215	hsa-miR-4270	CLIP-seq
MIRT964216	hsa-miR-4271	CLIP-seq
MIRT964217	hsa-miR-4283	CLIP-seq
MIRT964218	hsa-miR-4298	CLIP-seq
MIRT964166	hsa-miR-4307	CLIP-seq
MIRT964219	hsa-miR-4441	CLIP-seq
MIRT964220	hsa-miR-4518	CLIP-seq
MIRT964221	hsa-miR-4526	CLIP-seq
MIRT964222	hsa-miR-4534	CLIP-seq
MIRT964223	hsa-miR-4645-3p	CLIP-seq
MIRT964224	hsa-miR-4653-3p	CLIP-seq
MIRT964225	hsa-miR-4661-5p	CLIP-seq
MIRT964226	hsa-miR-4690-3p	CLIP-seq
MIRT964227	hsa-miR-4691-3p	CLIP-seq
MIRT964171	hsa-miR-4691-5p	CLIP-seq
MIRT964228	hsa-miR-4700-3p	CLIP-seq
MIRT964172	hsa-miR-4713-5p	CLIP-seq
MIRT964229	hsa-miR-4716-5p	CLIP-seq
MIRT964230	hsa-miR-4720-5p	CLIP-seq
MIRT964231	hsa-miR-4725-3p	CLIP-seq
MIRT964232	hsa-miR-4728-5p	CLIP-seq
MIRT964233	hsa-miR-4729	CLIP-seq
MIRT964234	hsa-miR-4731-5p	CLIP-seq
MIRT964235	hsa-miR-4733-3p	CLIP-seq
MIRT964236	hsa-miR-4739	CLIP-seq
MIRT964237	hsa-miR-4756-5p	CLIP-seq
MIRT964173	hsa-miR-4760-3p	CLIP-seq
MIRT964238	hsa-miR-4762-5p	CLIP-seq
MIRT964239	hsa-miR-4763-3p	CLIP-seq
MIRT964240	hsa-miR-4797-5p	CLIP-seq
MIRT964241	hsa-miR-4799-3p	CLIP-seq
MIRT964174	hsa-miR-485-3p	CLIP-seq
MIRT964242	hsa-miR-486-3p	CLIP-seq
MIRT964243	hsa-miR-494	CLIP-seq
MIRT964244	hsa-miR-498	CLIP-seq
MIRT964245	hsa-miR-513c	CLIP-seq
MIRT964246	hsa-miR-514b-5p	CLIP-seq
MIRT964176	hsa-miR-532-3p	CLIP-seq
MIRT964247	hsa-miR-545	CLIP-seq
MIRT964178	hsa-miR-613	CLIP-seq
MIRT964248	hsa-miR-708	CLIP-seq
MIRT964180	hsa-miR-873	CLIP-seq
MIRT964249	hsa-miR-877	CLIP-seq
MIRT964153	hsa-miR-1	CLIP-seq
MIRT964156	hsa-miR-206	CLIP-seq
MIRT964160	hsa-miR-3145-5p	CLIP-seq
MIRT964166	hsa-miR-4307	CLIP-seq
MIRT964178	hsa-miR-613	CLIP-seq
MIRT964186	hsa-miR-1260	CLIP-seq
MIRT964187	hsa-miR-1260b	CLIP-seq
MIRT964250	hsa-miR-1280	CLIP-seq
MIRT964251	hsa-miR-1305	CLIP-seq
MIRT964154	hsa-miR-150	CLIP-seq
MIRT964160	hsa-miR-3145-5p	CLIP-seq
MIRT964171	hsa-miR-4691-5p	CLIP-seq
MIRT964172	hsa-miR-4713-5p	CLIP-seq
MIRT964173	hsa-miR-4760-3p	CLIP-seq
MIRT964174	hsa-miR-485-3p	CLIP-seq
MIRT964176	hsa-miR-532-3p	CLIP-seq
MIRT964154	hsa-miR-150	CLIP-seq
MIRT964226	hsa-miR-4690-3p	CLIP-seq
MIRT2220275	hsa-miR-3667-3p	CLIP-seq
MIRT2448871	hsa-miR-1248	CLIP-seq
MIRT2448872	hsa-miR-3124-3p	CLIP-seq
MIRT2448873	hsa-miR-4446-5p	CLIP-seq
MIRT2448874	hsa-miR-4755-5p	CLIP-seq
MIRT2448875	hsa-miR-4778-3p	CLIP-seq
MIRT2465225	hsa-miR-1253	CLIP-seq
MIRT2465226	hsa-miR-143	CLIP-seq
MIRT2465227	hsa-miR-4770	CLIP-seq
MIRT2465228	hsa-miR-580	CLIP-seq
MIRT964184	hsa-miR-1207-5p	CLIP-seq
MIRT964190	hsa-miR-1321	CLIP-seq
MIRT964191	hsa-miR-139-5p	CLIP-seq
MIRT2524169	hsa-miR-3064-5p	CLIP-seq
MIRT964160	hsa-miR-3145-5p	CLIP-seq
MIRT964161	hsa-miR-3151	CLIP-seq
MIRT2524170	hsa-miR-3179	CLIP-seq
MIRT2524171	hsa-miR-3202	CLIP-seq
MIRT2524172	hsa-miR-331-3p	CLIP-seq
MIRT964210	hsa-miR-3670	CLIP-seq
MIRT964212	hsa-miR-3910	CLIP-seq
MIRT964215	hsa-miR-4270	CLIP-seq
MIRT964216	hsa-miR-4271	CLIP-seq
MIRT964219	hsa-miR-4441	CLIP-seq
MIRT2524173	hsa-miR-4476	CLIP-seq
MIRT2524174	hsa-miR-4688	CLIP-seq
MIRT964228	hsa-miR-4700-3p	CLIP-seq
MIRT2524175	hsa-miR-4722-5p	CLIP-seq
MIRT964231	hsa-miR-4725-3p	CLIP-seq
MIRT964232	hsa-miR-4728-5p	CLIP-seq
MIRT964233	hsa-miR-4729	CLIP-seq
MIRT964235	hsa-miR-4733-3p	CLIP-seq
MIRT964236	hsa-miR-4739	CLIP-seq
MIRT964237	hsa-miR-4756-5p	CLIP-seq
MIRT964239	hsa-miR-4763-3p	CLIP-seq
MIRT964240	hsa-miR-4797-5p	CLIP-seq
MIRT964242	hsa-miR-486-3p	CLIP-seq
MIRT964243	hsa-miR-494	CLIP-seq
MIRT2524176	hsa-miR-508-5p	CLIP-seq
MIRT2524177	hsa-miR-515-5p	CLIP-seq
MIRT2524178	hsa-miR-604	CLIP-seq
MIRT2524179	hsa-miR-647	CLIP-seq
MIRT964242	hsa-miR-486-3p	CLIP-seq
MIRT964242	hsa-miR-486-3p	CLIP-seq
MIRT964153	hsa-miR-1	CLIP-seq
MIRT964184	hsa-miR-1207-5p	CLIP-seq
MIRT964188	hsa-miR-1266	CLIP-seq
MIRT964190	hsa-miR-1321	CLIP-seq
MIRT964191	hsa-miR-139-5p	CLIP-seq
MIRT964156	hsa-miR-206	CLIP-seq
MIRT2524169	hsa-miR-3064-5p	CLIP-seq
MIRT964160	hsa-miR-3145-5p	CLIP-seq
MIRT964161	hsa-miR-3151	CLIP-seq
MIRT964203	hsa-miR-3157-5p	CLIP-seq
MIRT2524170	hsa-miR-3179	CLIP-seq
MIRT2524171	hsa-miR-3202	CLIP-seq
MIRT2524172	hsa-miR-331-3p	CLIP-seq
MIRT964163	hsa-miR-3653	CLIP-seq
MIRT964164	hsa-miR-3658	CLIP-seq
MIRT964209	hsa-miR-3664-3p	CLIP-seq
MIRT2220275	hsa-miR-3667-3p	CLIP-seq
MIRT964210	hsa-miR-3670	CLIP-seq
MIRT964212	hsa-miR-3910	CLIP-seq
MIRT964215	hsa-miR-4270	CLIP-seq
MIRT964216	hsa-miR-4271	CLIP-seq
MIRT964166	hsa-miR-4307	CLIP-seq
MIRT2680094	hsa-miR-4436b-5p	CLIP-seq
MIRT964219	hsa-miR-4441	CLIP-seq
MIRT2524173	hsa-miR-4476	CLIP-seq
MIRT964220	hsa-miR-4518	CLIP-seq
MIRT2524174	hsa-miR-4688	CLIP-seq
MIRT964227	hsa-miR-4691-3p	CLIP-seq
MIRT964228	hsa-miR-4700-3p	CLIP-seq
MIRT2524175	hsa-miR-4722-5p	CLIP-seq
MIRT964231	hsa-miR-4725-3p	CLIP-seq
MIRT964232	hsa-miR-4728-5p	CLIP-seq
MIRT964233	hsa-miR-4729	CLIP-seq
MIRT964235	hsa-miR-4733-3p	CLIP-seq
MIRT964236	hsa-miR-4739	CLIP-seq
MIRT964237	hsa-miR-4756-5p	CLIP-seq
MIRT964239	hsa-miR-4763-3p	CLIP-seq
MIRT964240	hsa-miR-4797-5p	CLIP-seq
MIRT964242	hsa-miR-486-3p	CLIP-seq
MIRT964243	hsa-miR-494	CLIP-seq
MIRT2524176	hsa-miR-508-5p	CLIP-seq
MIRT2524177	hsa-miR-515-5p	CLIP-seq
MIRT2524178	hsa-miR-604	CLIP-seq
MIRT964178	hsa-miR-613	CLIP-seq
MIRT2524179	hsa-miR-647	CLIP-seq
MIRT964180	hsa-miR-873	CLIP-seq

Gene ontology (GO) Show/Hide all (18)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000086	Process	G2/M transition of mitotic cell cycle	ISS
GO:0000278	Process	Mitotic cell cycle	ISS
GO:0004864	Function	Protein phosphatase inhibitor activity	IBA
GO:0004864	Function	Protein phosphatase inhibitor activity	IEA
GO:0005102	Function	Signaling receptor binding	IDA	9653196
GO:0005102	Function	Signaling receptor binding	TAS	9653196
GO:0005515	Function	Protein binding	IPI	21044950, 32814053
GO:0005654	Component	Nucleoplasm	TAS
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0007584	Process	Response to nutrient	TAS	9653196
GO:0008200	Function	Ion channel inhibitor activity	TAS	9653196
GO:0019212	Function	Phosphatase inhibitor activity	ISS
GO:0019870	Function	Potassium channel inhibitor activity	IDA	9653196
GO:0019888	Function	Protein phosphatase regulator activity	ISS
GO:0050796	Process	Regulation of insulin secretion	IDA	9653196
GO:0051301	Process	Cell division	IEA
GO:0051721	Function	Protein phosphatase 2A binding	ISS

Other IDs

• MIM: 603061
• HGNC: 3360
• e!Ensembl: ENSG00000143420

Protein

• UniProt ID: O43768
• Protein name: Alpha-endosulfine (ARPP-19e)
• Protein function: Protein phosphatase inhibitor that specifically inhibits protein phosphatase 2A (PP2A) during mitosis. When phosphorylated at Ser-67 during mitosis, specifically interacts with PPP2R2D (PR55-delta) and inhibits its activity, leading to inactivat
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF04667	Endosulfine	10 → 114	cAMP-regulated phosphoprotein/endosulfine conserved region	Family

• Tissue specificity: TISSUE SPECIFICITY: Widely expressed with high levels in skeletal muscle and brain and lower levels in the pancreas. {ECO:0000269|PubMed:14728987, ECO:0000269|PubMed:9653196}.
• Sequence:

  MSQKQEEENPAEETGEEKQDTQEKEGILPERAEEAKLKAKYPSLGQKPGGSDFLMKRLQK
  GQKYFDSGDYNMAKAKMKNKQLPSAGPDKNLVTGDHIPTPQDLPQRKSSLVTSKLAGGQV
  E

• Sequence length: 121

Pathways

Reactome Pathway:

MASTL Facilitates Mitotic Progression

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 Show/Hide Unknown Diseases (11)
Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
ALZHEIMER DISEASE	—	GWAS catalog	35589863	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL LEFT-SIDED HEART LESIONS	—	GWAS catalog	26965164	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	36474045	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GOUT	—	GWAS catalog	31578528	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART DISEASE	—	GWAS catalog	39024449	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	GWAS catalog	33293549	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL ISCHEMIA	—	CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog	16214533, 39024449	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER	—	GWAS catalog	37945903	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA	—	GWAS catalog	37945903	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SARCOIDOSIS	—	GWAS catalog	40075078	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	40465716	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining Show/Hide Text Mining Associations (14)
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Breast Carcinoma	Breast Carcinoma	BEFREE	24211627		★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	28922851		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	14728986, 14728987, 24211627		★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	LHGDN	11771735		★☆☆☆☆ Found in Text Mining only
HYPOPLASTIC LEFT HEART SYNDROME 1	Hypoplastic Left Heart Syndrome	GWASCAT_DG	26965164		★☆☆☆☆ Found in Text Mining only
HYPOPLASTIC LEFT HEART SYNDROME 2	Hypoplastic Left Heart Syndrome	GWASCAT_DG	26965164		★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	24211627		★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	31348270	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	24211627		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	24211627		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	24211627		★☆☆☆☆ Found in Text Mining only
Myocardial Ischemia	Myocardial Ischemia	CTD_human_DG	16214533		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neoplasms	Neoplasms	BEFREE	24211627, 30555827		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	31348270	Associate	★☆☆☆☆ Found in Text Mining only

Related Genes

Sort by: Blended Diseases Pathways Evidence source

MGAT4A 2 shared diseasesCongenital left-sided heart lesions, Sarcoidosis 2 shared evidence sourcesGWAS catalog (Congenital left-sided heart lesions), GWAS catalog (Sarcoidosis) Related via 2 shared diseases including Congenital left-sided heart lesions, Sarcoidosis — evidence mostly GWAS catalog. TEX2 1 shared diseaseHeart disease 2 shared evidence sourcesGWAS catalog (Heart disease), GWAS catalog (Myocardial ischemia) Related via 1 shared disease including Heart disease — evidence mostly GWAS catalog. CCDC97 1 shared diseaseHeart disease 2 shared evidence sourcesGWAS catalog (Heart disease), GWAS catalog (Myocardial ischemia) Related via 1 shared disease including Heart disease — evidence mostly GWAS catalog. ELL 1 shared diseaseHeart disease 2 shared evidence sourcesGWAS catalog (Heart disease), GWAS catalog (Myocardial ischemia) Related via 1 shared disease including Heart disease — evidence mostly GWAS catalog. MORF4L1 1 shared diseaseHeart disease 2 shared evidence sourcesGWAS catalog (Heart disease), GWAS catalog (Myocardial ischemia) Related via 1 shared disease including Heart disease — evidence mostly GWAS catalog.

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
MGAT4A	2	["Congenital left-sided heart lesions","Sarcoidosis"]	0	[]	2	["GWAS catalog (Congenital left-sided heart lesions)","GWAS catalog (Sarcoidosis)"]
TEX2	1	["Heart disease"]	0	[]	2	["GWAS catalog (Heart disease)","GWAS catalog (Myocardial ischemia)"]
CCDC97	1	["Heart disease"]	0	[]	2	["GWAS catalog (Heart disease)","GWAS catalog (Myocardial ischemia)"]
ELL	1	["Heart disease"]	0	[]	2	["GWAS catalog (Heart disease)","GWAS catalog (Myocardial ischemia)"]
MORF4L1	1	["Heart disease"]	0	[]	2	["GWAS catalog (Heart disease)","GWAS catalog (Myocardial ischemia)"]

Diseases Linked via Similar Genes

Bipolar disorder Linked via 2 of 5 related genesMGAT4A, TEX2 Major depressive disorder Linked via 2 of 5 related genesTEX2, MORF4L1 Cardiovascular disease Linked via 2 of 5 related genesCCDC97, MORF4L1 Myocardial infarction Linked via 2 of 5 related genesCCDC97, MORF4L1 Central nervous system cancer Linked via 1 of 5 related genesMGAT4A

Disease	Linked Via (Gene Count)	Linked Via (Gene Names)
Bipolar disorder	2	["MGAT4A","TEX2"]
Major depressive disorder	2	["TEX2","MORF4L1"]
Cardiovascular disease	2	["CCDC97","MORF4L1"]
Myocardial infarction	2	["CCDC97","MORF4L1"]
Central nervous system cancer	1	["MGAT4A"]