ERN1 (endoplasmic reticulum to nucleus signaling 1)

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

Gene

• Entrez ID: 2081
• Gene name: Endoplasmic reticulum to nucleus signaling 1
• Gene symbol: ERN1
• Synonyms (NCBI Gene): IRE1, IRE1P, IRE1a, hIRE1p
• Chromosome: 17
• Chromosome location: 17q23.3
• Summary: This gene encodes the transmembrane protein kinase inositol-requiring enzyme 1. The encoded protein contains two functional catalytic domains, a serine/threonine-protein kinase domain and an endoribonuclease domain. This protein functions as a sensor of u

miRNA Show/Hide all (133)

miRTarBase ID	miRNA	Experiments	Reference
MIRT052484	hsa-let-7a-5p	CLASH	23622248
MIRT053104	hsa-miR-199a-5p	Luciferase reporter assay, qRT-PCR, Western blot	23598416
MIRT053105	hsa-miR-1291	GFP reporter assay	23598528
MIRT053105	hsa-miR-1291	GFP reporter assay	23598528
MIRT703869	hsa-miR-3173-3p	HITS-CLIP	23313552
MIRT703868	hsa-miR-6891-5p	HITS-CLIP	23313552
MIRT703867	hsa-miR-302f	HITS-CLIP	23313552
MIRT703866	hsa-miR-6808-5p	HITS-CLIP	23313552
MIRT703865	hsa-miR-6893-5p	HITS-CLIP	23313552
MIRT703864	hsa-miR-940	HITS-CLIP	23313552
MIRT703863	hsa-miR-3929	HITS-CLIP	23313552
MIRT703862	hsa-miR-4419b	HITS-CLIP	23313552
MIRT703861	hsa-miR-4478	HITS-CLIP	23313552
MIRT703860	hsa-miR-4768-3p	HITS-CLIP	23313552
MIRT703859	hsa-miR-6746-5p	HITS-CLIP	23313552
MIRT703858	hsa-miR-4649-3p	HITS-CLIP	23313552
MIRT441507	hsa-miR-219b-3p	HITS-CLIP	23313552
MIRT703857	hsa-miR-1827	HITS-CLIP	23313552
MIRT703856	hsa-miR-485-5p	HITS-CLIP	23313552
MIRT703855	hsa-miR-6884-5p	HITS-CLIP	23313552
MIRT703854	hsa-miR-4722-5p	HITS-CLIP	23313552
MIRT703853	hsa-miR-7160-5p	HITS-CLIP	23313552
MIRT703852	hsa-miR-6771-5p	HITS-CLIP	23313552
MIRT703851	hsa-miR-1273e	HITS-CLIP	23313552
MIRT703850	hsa-miR-665	HITS-CLIP	23313552
MIRT615329	hsa-miR-4310	HITS-CLIP	23824327
MIRT615328	hsa-miR-7157-5p	HITS-CLIP	23824327
MIRT615327	hsa-miR-6887-3p	HITS-CLIP	23824327
MIRT615326	hsa-miR-4667-3p	HITS-CLIP	23824327
MIRT615325	hsa-miR-5193	HITS-CLIP	23824327
MIRT615324	hsa-miR-4680-5p	HITS-CLIP	23824327
MIRT615323	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT615329	hsa-miR-4310	HITS-CLIP	23824327
MIRT615328	hsa-miR-7157-5p	HITS-CLIP	23824327
MIRT615327	hsa-miR-6887-3p	HITS-CLIP	23824327
MIRT615326	hsa-miR-4667-3p	HITS-CLIP	23824327
MIRT615325	hsa-miR-5193	HITS-CLIP	23824327
MIRT615324	hsa-miR-4680-5p	HITS-CLIP	23824327
MIRT615323	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT526817	hsa-miR-490-3p	PAR-CLIP	22012620
MIRT526816	hsa-miR-649	PAR-CLIP	22012620
MIRT526814	hsa-miR-4539	PAR-CLIP	22012620
MIRT526815	hsa-miR-7158-3p	PAR-CLIP	22012620
MIRT441510	hsa-miR-186-5p	PAR-CLIP	22100165
MIRT441509	hsa-miR-451b	PAR-CLIP	22100165
MIRT441508	hsa-miR-1184	PAR-CLIP	22100165
MIRT441507	hsa-miR-219b-3p	PAR-CLIP	22100165
MIRT441506	hsa-miR-103a-3p	PAR-CLIP	22100165
MIRT441505	hsa-miR-107	PAR-CLIP	22100165
MIRT441504	hsa-miR-192-3p	PAR-CLIP	22100165
MIRT703863	hsa-miR-3929	PAR-CLIP	27292025
MIRT703862	hsa-miR-4419b	PAR-CLIP	27292025
MIRT703861	hsa-miR-4478	PAR-CLIP	27292025
MIRT703869	hsa-miR-3173-3p	HITS-CLIP	23313552
MIRT703868	hsa-miR-6891-5p	HITS-CLIP	23313552
MIRT703867	hsa-miR-302f	HITS-CLIP	23313552
MIRT703866	hsa-miR-6808-5p	HITS-CLIP	23313552
MIRT703865	hsa-miR-6893-5p	HITS-CLIP	23313552
MIRT703864	hsa-miR-940	HITS-CLIP	23313552
MIRT703863	hsa-miR-3929	HITS-CLIP	23313552
MIRT703862	hsa-miR-4419b	HITS-CLIP	23313552
MIRT703861	hsa-miR-4478	HITS-CLIP	23313552
MIRT703860	hsa-miR-4768-3p	HITS-CLIP	23313552
MIRT703859	hsa-miR-6746-5p	HITS-CLIP	23313552
MIRT703858	hsa-miR-4649-3p	HITS-CLIP	23313552
MIRT441507	hsa-miR-219b-3p	HITS-CLIP	23313552
MIRT703857	hsa-miR-1827	HITS-CLIP	23313552
MIRT703856	hsa-miR-485-5p	HITS-CLIP	23313552
MIRT703855	hsa-miR-6884-5p	HITS-CLIP	23313552
MIRT703854	hsa-miR-4722-5p	HITS-CLIP	23313552
MIRT703853	hsa-miR-7160-5p	HITS-CLIP	23313552
MIRT703852	hsa-miR-6771-5p	HITS-CLIP	23313552
MIRT703851	hsa-miR-1273e	HITS-CLIP	23313552
MIRT703850	hsa-miR-665	HITS-CLIP	23313552
MIRT615329	hsa-miR-4310	HITS-CLIP	23824327
MIRT615328	hsa-miR-7157-5p	HITS-CLIP	23824327
MIRT615327	hsa-miR-6887-3p	HITS-CLIP	23824327
MIRT615326	hsa-miR-4667-3p	HITS-CLIP	23824327
MIRT615325	hsa-miR-5193	HITS-CLIP	23824327
MIRT615324	hsa-miR-4680-5p	HITS-CLIP	23824327
MIRT615323	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT615329	hsa-miR-4310	HITS-CLIP	23824327
MIRT615328	hsa-miR-7157-5p	HITS-CLIP	23824327
MIRT615327	hsa-miR-6887-3p	HITS-CLIP	23824327
MIRT615326	hsa-miR-4667-3p	HITS-CLIP	23824327
MIRT615325	hsa-miR-5193	HITS-CLIP	23824327
MIRT615324	hsa-miR-4680-5p	HITS-CLIP	23824327
MIRT615323	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT526817	hsa-miR-490-3p	PAR-CLIP	22012620
MIRT526816	hsa-miR-649	PAR-CLIP	22012620
MIRT526814	hsa-miR-4539	PAR-CLIP	22012620
MIRT526815	hsa-miR-7158-3p	PAR-CLIP	22012620
MIRT441510	hsa-miR-186-5p	PAR-CLIP	22100165
MIRT441509	hsa-miR-451b	PAR-CLIP	22100165
MIRT441508	hsa-miR-1184	PAR-CLIP	22100165
MIRT441507	hsa-miR-219b-3p	PAR-CLIP	22100165
MIRT441506	hsa-miR-103a-3p	PAR-CLIP	22100165
MIRT441505	hsa-miR-107	PAR-CLIP	22100165
MIRT441504	hsa-miR-192-3p	PAR-CLIP	22100165
MIRT969644	hsa-miR-1587	CLIP-seq
MIRT969645	hsa-miR-2278	CLIP-seq
MIRT969646	hsa-miR-2467-3p	CLIP-seq
MIRT969647	hsa-miR-3122	CLIP-seq
MIRT969648	hsa-miR-3158-5p	CLIP-seq
MIRT969649	hsa-miR-3614-5p	CLIP-seq
MIRT969650	hsa-miR-3663-5p	CLIP-seq
MIRT969651	hsa-miR-3678-3p	CLIP-seq
MIRT969652	hsa-miR-3909	CLIP-seq
MIRT969653	hsa-miR-3913-5p	CLIP-seq
MIRT969654	hsa-miR-4265	CLIP-seq
MIRT969655	hsa-miR-4296	CLIP-seq
MIRT969656	hsa-miR-4322	CLIP-seq
MIRT969657	hsa-miR-4417	CLIP-seq
MIRT969658	hsa-miR-4492	CLIP-seq
MIRT969659	hsa-miR-4498	CLIP-seq
MIRT969660	hsa-miR-4656	CLIP-seq
MIRT969661	hsa-miR-4675	CLIP-seq
MIRT969662	hsa-miR-4741	CLIP-seq
MIRT969663	hsa-miR-4747-5p	CLIP-seq
MIRT969664	hsa-miR-671-5p	CLIP-seq
MIRT969665	hsa-miR-762	CLIP-seq
MIRT1987436	hsa-miR-3166	CLIP-seq
MIRT1987437	hsa-miR-4731-5p	CLIP-seq
MIRT2221817	hsa-miR-1224-3p	CLIP-seq
MIRT1987436	hsa-miR-3166	CLIP-seq
MIRT2221818	hsa-miR-342-5p	CLIP-seq
MIRT2221819	hsa-miR-3652	CLIP-seq
MIRT2221820	hsa-miR-4430	CLIP-seq
MIRT2221821	hsa-miR-4505	CLIP-seq
MIRT2221822	hsa-miR-4664-5p	CLIP-seq
MIRT1987437	hsa-miR-4731-5p	CLIP-seq
MIRT2221823	hsa-miR-4771	CLIP-seq
MIRT2221824	hsa-miR-637	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
XBP1	Unknown	20513357

Gene ontology (GO) Show/Hide all (86)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0000287	Function	Magnesium ion binding	IDA	9637683
GO:0000287	Function	Magnesium ion binding	IEA
GO:0001935	Process	Endothelial cell proliferation	IDA	23529610
GO:0003824	Function	Catalytic activity	IEA
GO:0004519	Function	Endonuclease activity	IEA
GO:0004521	Function	RNA endonuclease activity	IBA
GO:0004521	Function	RNA endonuclease activity	IDA	9637683, 11779465, 19328063, 20625543, 21317875
GO:0004521	Function	RNA endonuclease activity	IEA
GO:0004540	Function	RNA nuclease activity	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	9637683, 21317875
GO:0004674	Function	Protein serine/threonine kinase activity	IEA
GO:0005161	Function	Platelet-derived growth factor receptor binding	IPI	26315405
GO:0005515	Function	Protein binding	IPI	11278723, 15234121, 18369366, 19135427, 19328063, 20103773, 23529610, 25241761, 25742138, 26551274, 27238082, 28128204, 32814053
GO:0005524	Function	ATP binding	IDA	9637683
GO:0005524	Function	ATP binding	IEA
GO:0005637	Component	Nuclear inner membrane	IEA
GO:0005737	Component	Cytoplasm	IDA	19622636
GO:0005739	Component	Mitochondrion	IEA
GO:0005783	Component	Endoplasmic reticulum	IBA
GO:0005783	Component	Endoplasmic reticulum	IDA	23529610
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IDA	9637683
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0006397	Process	MRNA processing	IEA
GO:0006401	Process	RNA catabolic process	IEA
GO:0006402	Process	MRNA catabolic process	TAS	22013210
GO:0006468	Process	Protein phosphorylation	IDA	9637683
GO:0006915	Process	Apoptotic process	IEA
GO:0006986	Process	Response to unfolded protein	IEA
GO:0010629	Process	Negative regulation of gene expression	IEA
GO:0016020	Component	Membrane	IEA
GO:0016241	Process	Regulation of macroautophagy	TAS	22013210
GO:0016301	Function	Kinase activity	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0019899	Function	Enzyme binding	IPI	23103912
GO:0030544	Function	Hsp70 protein binding	IPI	20625543
GO:0030968	Process	Endoplasmic reticulum unfolded protein response	IDA	20625543
GO:0030968	Process	Endoplasmic reticulum unfolded protein response	IEA
GO:0030968	Process	Endoplasmic reticulum unfolded protein response	IEA
GO:0032991	Component	Protein-containing complex	IEA
GO:0033120	Process	Positive regulation of RNA splicing	IDA	11779464, 19622636
GO:0033120	Process	Positive regulation of RNA splicing	IEA
GO:0034620	Process	Cellular response to unfolded protein	IDA	19328063
GO:0034620	Process	Cellular response to unfolded protein	IMP	20625543, 21317875
GO:0034976	Process	Response to endoplasmic reticulum stress	IDA	10650002
GO:0035924	Process	Cellular response to vascular endothelial growth factor stimulus	IDA	23529610
GO:0036498	Process	IRE1-mediated unfolded protein response	IBA
GO:0036498	Process	IRE1-mediated unfolded protein response	IDA	9637683, 11779465, 19328063, 29198525
GO:0036498	Process	IRE1-mediated unfolded protein response	IEA
GO:0036498	Process	IRE1-mediated unfolded protein response	IMP	28128204
GO:0036498	Process	IRE1-mediated unfolded protein response	TAS	22013210
GO:0042802	Function	Identical protein binding	IPI	12637535, 16973740, 20798350, 21317875
GO:0042803	Function	Protein homodimerization activity	IDA	29198525
GO:0042803	Function	Protein homodimerization activity	IEA
GO:0042803	Function	Protein homodimerization activity	IPI	21317875
GO:0042803	Function	Protein homodimerization activity	ISS
GO:0043531	Function	ADP binding	IDA	21317875
GO:0046330	Process	Positive regulation of JNK cascade	IDA	10650002
GO:0046330	Process	Positive regulation of JNK cascade	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0051082	Function	Unfolded protein binding	IBA
GO:0051879	Function	Hsp90 protein binding	IDA	12446770
GO:0070054	Process	MRNA splicing, via endonucleolytic cleavage and ligation	IDA	11779464, 19328063, 19622636, 21317875
GO:0070054	Process	MRNA splicing, via endonucleolytic cleavage and ligation	IMP	20625543, 21317875
GO:0070054	Process	MRNA splicing, via endonucleolytic cleavage and ligation	TAS	22013210
GO:0070059	Process	Intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress	IBA
GO:0070059	Process	Intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress	IEA
GO:0070059	Process	Intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress	ISS
GO:0070301	Process	Cellular response to hydrogen peroxide	IEA
GO:0071333	Process	Cellular response to glucose stimulus	IDA	20103773
GO:0071333	Process	Cellular response to glucose stimulus	IEA
GO:0106310	Function	Protein serine kinase activity	IEA
GO:1900103	Process	Positive regulation of endoplasmic reticulum unfolded protein response	IMP	28128204
GO:1901142	Process	Insulin metabolic process	IDA	20103773
GO:1904707	Process	Positive regulation of vascular associated smooth muscle cell proliferation	IMP	26315405
GO:1905898	Process	Positive regulation of response to endoplasmic reticulum stress	IEA
GO:1990332	Component	Ire1 complex	NAS	19328063
GO:1990597	Component	AIP1-IRE1 complex	IEA
GO:1990604	Component	IRE1-TRAF2-ASK1 complex	IBA
GO:1990604	Component	IRE1-TRAF2-ASK1 complex	IDA	23000344
GO:1990630	Component	IRE1-RACK1-PP2A complex	IDA	20103773

Other IDs

• MIM: 604033
• HGNC: 3449
• e!Ensembl: ENSG00000178607

Protein

• UniProt ID: O75460
• Protein name: Serine/threonine-protein kinase/endoribonuclease IRE1 (Endoplasmic reticulum-to-nucleus signaling 1) (Inositol-requiring protein 1) (hIRE1p) (Ire1-alpha) (IRE1a) [Includes: Serine/threonine-protein kinase (EC 2.7.11.1); Endoribonuclease (EC 3.1.26.-)]
• Protein function: Serine/threonine-protein kinase and endoribonuclease that acts as a key sensor for the endoplasmic reticulum unfolded protein response (UPR) (PubMed:11175748, PubMed:11779464, PubMed:12637535, PubMed:19328063, PubMed:21317875, PubMed:28128204, P
• PDB: 2HZ6 , 3P23 , 4U6R , 4YZ9 , 4YZC , 4YZD , 4Z7G , 4Z7H , 5HGI , 6HV0 , 6HX1 , 6SHC , 6URC , 6W39 , 6W3A , 6W3B , 6W3C , 6W3E , 6W3K , 6XDB , 6XDD , 6XDF , 7BMK , 8UVL
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF06479	Ribonuc_2-5A	838 → 961	Ribonuclease 2-5A	Family
  PF00069	Pkinase	571 → 832	Protein kinase domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Ubiquitously expressed. High levels observed in pancreatic tissue. {ECO:0000269|PubMed:9637683}.
• Sequence:

  MPARRLLLLLTLLLPGLGIFGSTSTVTLPETLLFVSTLDGSLHAVSKRTGSIKWTLKEDP
  VLQVPTHVEEPAFLPDPNDGSLYTLGSKNNEGLTKLPFTIPELVQASPCRSSDGILYMGK
  KQDIWYVIDLLTGEKQQTLSSAFADSLCPSTSLLYLGRTEYTITMYDTKTRELRWNATYF
  DYAASLPEDDVDYKMSHFVSNGDGLVVTVDSESGDVLWIQNYASPVVAFYVWQREGLRKV
  MHINVAVETLRYLTFMSGEVGRITKWKYPFPKETEAKSKLTPTLYVGKYSTSLYASPSMV
  HEGVAVVPRGSTLPLLEGPQTDGVTIGDKGECVITPSTDVKFDPGLKSKNKLNYLRNYWL
  LIGHHETPLSASTKMLERFPNNLPKHRENVIPADSEKKSFEEVINLVDQTSENAPTTVSR
  DVEEKPAHAPARPEAPVDSMLKDMATIILSTFLLIGWVAFIITYPLSMHQQQQLQHQQFQ
  KELEKIQLLQQQQQQLPFHPPGDTAQDGELLDTSGPYSESSGTSSPSTSPRASNHSLCSG
  SSASKAGSSPSLEQDDGDEETSVVIVGKISFCPKDVLGHGAEGTIVYRGMFDNRDVAVKR
  ILPECFSFADREVQLLRESDEHPNVIRYFCTEKDRQFQYIAIELCAATLQEYVEQKDFAH
  LGLEPITLLQQTTSGLAHLHSLNIVHRDLKPHNILISMPNAHGKIKAMISDFGLCKKLAV
  GRHSFSRRSGVPGTEGWIAPEMLSEDCKENPTYTVDIFSAGCVFYYVISEGSHPFGKSLQ
  RQANILLGACSLDCLHPEKHEDVIARELIEKMIAMDPQKRPSAKHVLKHPFFWSLEKQLQ
  FFQDVSDRIEKESLDGPIVKQLERGGRAVVKMDWRENITVPLQTDLRKFRTYKGGSVRDL
  LRAMRNKKHHYRELPAEVRETLGSLPDDFVCYFTSRFPHLLAHTYRAMELCSHERLFQPY
  YFHEPPEPQPPVTPDAL

• Sequence length: 977

Pathways

KEGG Pathway	Reactome Pathway
Autophagy - animal	IRE1alpha activates chaperones
Protein processing in endoplasmic reticulum
Apoptosis
Non-alcoholic fatty liver disease
Alzheimer disease
Parkinson disease
Amyotrophic lateral sclerosis
Huntington disease
Spinocerebellar ataxia
Pathways of neurodegeneration - multiple diseases
Lipid and atherosclerosis

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	33637690	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANKYLOSING SPONDYLITIS	—	GWAS catalog	26974007	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CROHN'S DISEASE	—	GWAS catalog	26974007	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPSY	—	CTD, Disgenet CTD, Disgenet	19558813	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	34586374	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MULTIPLE SCLEROSIS	—	CTD, Disgenet CTD, Disgenet	30661753	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIASIS	—	GWAS catalog	26974007	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCLEROSING CHOLANGITIS	—	GWAS catalog	26974007	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	30297969, 32541925, 35551307, 38374256, 39379762	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ULCERATIVE COLITIS	—	GWAS catalog	26974007	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining Show/Hide Text Mining Associations (179)
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute pancreatitis	Pancreatitis	BEFREE	29912856, 30851439		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	28334878		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	29725981, 33637690	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	24681403, 26056941, 28725179, 29725981		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis	Pubtator	29725981	Associate	★☆☆☆☆ Found in Text Mining only
Ankylosing spondylitis	Ankylosing Spondylitis	GWASCAT_DG	26974007		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	29986726		★☆☆☆☆ Found in Text Mining only
Anophthalmia with pulmonary hypoplasia	Anophthalmia	Pubtator	25657029	Associate	★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	28137856		★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	36548354	Associate	★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	28137856		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	Pubtator	29761862	Associate	★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	28380378, 29928282		★☆☆☆☆ Found in Text Mining only
Avellino corneal dystrophy	Avellino Corneal Dystrophy	BEFREE	27373828		★☆☆☆☆ Found in Text Mining only
Awakening Epilepsy	Epilepsy	CTD_human_DG	19558813		★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	29485914, 29939407, 30426803, 31173213		★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar disorder	Pubtator	39272120	Associate	★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	30595371	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	22681620, 22982536, 27829216, 29367761, 29480818		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	22681620, 32672418, 33291081, 34614512, 36167768	Associate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms Male	Male breast neoplasms	Pubtator	36167768	Associate	★☆☆☆☆ Found in Text Mining only
Bronchitis	Bronchitis	BEFREE	31082732		★☆☆☆☆ Found in Text Mining only
Burkitt Lymphoma	Burkitt`s Lymphoma	BEFREE	29381485		★☆☆☆☆ Found in Text Mining only
Burkitt Lymphoma	Burkitt lymphoma	Pubtator	36012375	Associate	★☆☆☆☆ Found in Text Mining only
CADASIL	Cadasil	Pubtator	36175824	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	39352777	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	20165882, 29921924, 37326827	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	25797626		★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	30305738		★☆☆☆☆ Found in Text Mining only
Cardiomegaly	Cardiomegaly	Pubtator	37219631	Associate	★☆☆☆☆ Found in Text Mining only
Cartilage Diseases	Cartilage disease	Pubtator	37907740	Associate	★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	Pubtator	26091066	Stimulate	★☆☆☆☆ Found in Text Mining only
Cerebral Small Vessel Diseases	Cerebral microangiopathy	Pubtator	36175824	Associate	★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	28487326		★☆☆☆☆ Found in Text Mining only
Cholangitis, Sclerosing	Cholangitis	GWASCAT_DG	26974007		★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	22740450		★☆☆☆☆ Found in Text Mining only
CNS disorder	CNS Disorder	BEFREE	29663887		★☆☆☆☆ Found in Text Mining only
Cognitive Dysfunction	Cognition disorder	Pubtator	29276149	Associate	★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	30559399		★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	35185383	Associate	★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	28825721, 30482246, 31326465		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	28454221, 29859300, 31243264		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	30482246, 31243264, 32323831, 36585626	Associate	★☆☆☆☆ Found in Text Mining only
Congenital cataract	Congenital Cataract	BEFREE	26091066		★☆☆☆☆ Found in Text Mining only
Congenital diaphragmatic hernia	Congenital diaphragmatic hernia	BEFREE	28388302		★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	25516437, 29769316		★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	GWASCAT_DG	26974007		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	28082357		★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic Fibrosis	BEFREE	28075361, 31428093		★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic fibrosis	Pubtator	31428093, 33802742	Associate	★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	24269637, 26718307		★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	30595371	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	26106220, 27634225, 31156553, 31500832		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	26106220, 27634225, 31156553, 31500832		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	33490239	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	26611106, 28380378		★☆☆☆☆ Found in Text Mining only
Diabetes, Autoimmune	Autoimmune Diabetes	BEFREE	28380378		★☆☆☆☆ Found in Text Mining only
Diffuse Large B-Cell Lymphoma	Diffuse Lymphoma	BEFREE	28167662		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	CTD_human_DG	19558813		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy, Cryptogenic	Epilepsy	CTD_human_DG	19558813		★☆☆☆☆ Found in Text Mining only
Ewings sarcoma	Ewing sarcoma	BEFREE	29581854		★☆☆☆☆ Found in Text Mining only
Familial lichen amyloidosis	Lichen amyloidosis	BEFREE	30679434		★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty Liver	BEFREE	25170079, 29764990, 29969718, 31123148		★☆☆☆☆ Found in Text Mining only
Fatty Liver Disease	Fatty Liver	BEFREE	29018408		★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	BEFREE	30538632		★☆☆☆☆ Found in Text Mining only
Gastric Adenocarcinoma	Gastric Cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Gastroenteritis	Gastroenteritis	BEFREE	30185587		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	26325176, 29311133		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	29311133, 32433555, 32446294, 35367758, 37107600, 37823569, 38563293, 39352777, 39652629, 40073403, 40073406	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	26325176, 29311133		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	22718352, 24330607, 29263275		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	27560636, 27560795, 28222026, 31734650, 31734653, 32857715, 32857719, 33885249, 33920356, 34020533, 36270342	Associate	★☆☆☆☆ Found in Text Mining only
Glomerulonephritis	Glomerulonephritis	BEFREE	28428258		★☆☆☆☆ Found in Text Mining only
Glomerulonephritis	Glomerulonephritis	Pubtator	33043579	Associate	★☆☆☆☆ Found in Text Mining only
Graves Ophthalmopathy	Graves ophthalmopathy	Pubtator	36465658	Associate	★☆☆☆☆ Found in Text Mining only
Harlequin Fetus	Harlequin Ichthyosis	BEFREE	29394934		★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	25516437, 29769316		★☆☆☆☆ Found in Text Mining only
Hepatitis C	Hepatitis c	Pubtator	25265476	Stimulate	★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin disease	Pubtator	38479365	Associate	★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	21954231		★☆☆☆☆ Found in Text Mining only
Hyperinsulinism	Hyperinsulinism	BEFREE	21447637, 31039496		★☆☆☆☆ Found in Text Mining only
Hyperlipidemia	Hyperlipidemia	BEFREE	28137856, 28346409		★☆☆☆☆ Found in Text Mining only
Hyperplasia	Hyperplasia	Pubtator	19106412	Associate	★☆☆☆☆ Found in Text Mining only
Hypocholesterolemia	Hypocholesterolemia	BEFREE	31578081		★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	27560795, 28222026, 31734650, 32857715, 37107600, 37823569, 38563293, 39352777, 40073403	Associate	★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	28423496	Stimulate	★☆☆☆☆ Found in Text Mining only
Hypoxic-Ischemic Encephalopathy	Hypoxic-Ischemic Encephalopathy	BEFREE	29394934		★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	30899368		★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	29074489		★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Idiopathic pulmonary fibrosis	Pubtator	35170357	Associate	★☆☆☆☆ Found in Text Mining only
Ileitis	Ileitis	BEFREE	28082357		★☆☆☆☆ Found in Text Mining only
Immune System Diseases	Immune System Diseases	BEFREE	29928282		★☆☆☆☆ Found in Text Mining only
Immune System Diseases	Immune system disease	Pubtator	31428093	Associate	★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	22028783		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	22028783	Stimulate	★☆☆☆☆ Found in Text Mining only
Intervertebral Disc Degeneration	Intervertebral disc disease	Pubtator	33833850	Associate	★☆☆☆☆ Found in Text Mining only
Leprosy	Leprosy	Pubtator	30647798	Associate	★☆☆☆☆ Found in Text Mining only
Leprosy Lepromatous	Leprosy	Pubtator	30647798	Associate	★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	24362465		★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	34000298, 34032336	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	20858700	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	26934650, 28969101, 30055408		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	12713871, 20165882, 25901709, 28835517, 30214606		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver cirrhosis	Pubtator	25265476	Associate	★☆☆☆☆ Found in Text Mining only
Liver Diseases	Liver disease	Pubtator	25265476	Stimulate	★☆☆☆☆ Found in Text Mining only
Liver Diseases	Liver disease	Pubtator	36520816	Associate	★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	Pubtator	29554897	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus	Lupus Erythematosus	BEFREE	25516752		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Discoid	Lupus Erythematosus	BEFREE	25516752		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	25226532, 25516752		★☆☆☆☆ Found in Text Mining only
Lupus Vulgaris	Lupus Vulgaris	BEFREE	25516752		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	22681620, 27829216, 29367761, 29480818		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	30305738		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	24952679		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	30679434		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	21663964, 24362465, 25794824, 26325176, 27307600, 28358375, 29263275, 29311133, 30159133, 30305738, 31041814, 31205564, 31326465		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	28825721, 30482246, 31326465		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	25016296, 26018731, 28222747, 30989459	Associate	★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	28222747, 30687308		★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	Pubtator	21317875	Associate	★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	26803729, 29673059		★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic syndrome	Pubtator	27560636, 29673059	Associate	★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	28346409		★☆☆☆☆ Found in Text Mining only
Metastatic melanoma	Metastatic Melanoma	BEFREE	30055408		★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	24743743, 34895315	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	12902539, 22028791, 22538852, 24362465, 27307600, 28167662, 28467788, 31371506, 31453810		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	19755988, 21317875, 21723843, 27634301, 32878237, 36555805, 37566015, 40215234	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	30661753		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	30055408		★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	Pubtator	26091066	Stimulate	★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	Pubtator	26351848	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	16861911, 20702765, 22718352, 24745346, 25901709, 26325176, 28618969, 28847931, 29480818, 29581854, 29804923, 30111846, 30159133, 30411035, 30936991, 31086333, 31320625		★☆☆☆☆ Found in Text Mining only
Nephritis	Nephritis	BEFREE	28428258		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	25740014, 30719816		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	30595371, 32531952, 37907740	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	30595371		★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	29673059		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	28672279, 28730963		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	23913943, 37711626	Associate	★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	28346409, 29764990		★☆☆☆☆ Found in Text Mining only
Oropharyngeal Carcinoma	Oropharyngeal Carcinoma	BEFREE	31187548		★☆☆☆☆ Found in Text Mining only
Oropharyngeal Neoplasms	Oropharyngeal neoplasm	Pubtator	30414263, 31187548	Associate	★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	27435272	Inhibit	★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	37907740	Associate	★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	Pubtator	26091066	Stimulate	★☆☆☆☆ Found in Text Mining only
Ovarian Failure, Premature	Ovarian Failure	BEFREE	31081266		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	30305738		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	35349489, 35619328	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Serous Adenocarcinoma	Ovarian serous adenocarcinoma	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	37651191	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	31641108		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	33637690	Associate	★☆☆☆☆ Found in Text Mining only
Periventricular Nodular Heterotopia	Periventricular Nodular Heterotopia	BEFREE	30013108		★☆☆☆☆ Found in Text Mining only
Post-Traumatic Stress Disorder	Stress Disorder	BEFREE	28210980, 29843020		★☆☆☆☆ Found in Text Mining only
Premature Menopause	Premature Menopause	BEFREE	31081266		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	30679434		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	23448667, 28338058	Associate	★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	GWASCAT_DG	26974007		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	30899368		★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	30625178		★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary fibrosis	Pubtator	35170357	Associate	★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis pigmentosa	Pubtator	24664756	Associate	★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	BEFREE	30081392		★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	BEFREE	31785812		★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	30462773, 30728287		★☆☆☆☆ Found in Text Mining only
Skin Neoplasms	Skin neoplasm	Pubtator	36167768	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of oropharynx	Oropharyngeal carcinoma	BEFREE	30414263		★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	25170079, 29764990, 29969718, 31123148		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	37651191	Associate	★☆☆☆☆ Found in Text Mining only
Subarachnoid Hemorrhage	Subarachnoid hemorrhage	BEFREE	29334839		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	28740556		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	29440447	Associate	★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	GWASCAT_DG	26974007		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	28358375	Associate	★☆☆☆☆ Found in Text Mining only
Van der Woude syndrome	Van Der Woude Syndrome	BEFREE	30173053		★☆☆☆☆ Found in Text Mining only
Wolfram Syndrome	Wolfram Syndrome	BEFREE	26106220		★☆☆☆☆ Found in Text Mining only

Related Genes

Sort by: Blended Diseases Pathways Evidence source

KCNIP1 2 shared diseasesEpilepsy, Sclerosing cholangitis 2 shared evidence sourcesDisgenet (Epilepsy), GWAS catalog (Sclerosing cholangitis) Related via 2 shared diseases including Epilepsy, Sclerosing cholangitis — evidence mostly Disgenet. BSN 2 shared diseasesEpilepsy, Sclerosing cholangitis 3 shared evidence sourcesGWAS catalog (Ankylosing spondylitis), Disgenet (Epilepsy), GWAS catalog (Sclerosing cholangitis) Related via 2 shared diseases including Epilepsy, Sclerosing cholangitis — evidence mostly GWAS catalog. CD6 1 shared diseaseSclerosing cholangitis 4 shared evidence sourcesGWAS catalog (Ankylosing spondylitis), Disgenet (Multiple sclerosis), CTD (Multiple sclerosis), GWAS catalog (Sclerosing cholangitis) Related via 1 shared disease including Sclerosing cholangitis — evidence mostly GWAS catalog. KPNA7 2 shared diseasesEpilepsy, Sclerosing cholangitis 2 shared evidence sourcesGWAS catalog (Ankylosing spondylitis), GWAS catalog (Sclerosing cholangitis) Related via 2 shared diseases including Epilepsy, Sclerosing cholangitis — evidence mostly GWAS catalog. XBP1 6 shared pathwaysProtein processing in endoplasmic reticulum, Non-alcoholic fatty liver disease, Parkinson disease, Spinocerebellar ataxia, Lipid and atherosclerosis, IRE1alpha activates chaperones 2 shared evidence sourcesDisgenet (Multiple sclerosis), CTD (Multiple sclerosis) Related via 6 shared pathways including Protein processing in endoplasmic reticulum, Non-alcoholic fatty liver disease — evidence mostly Disgenet.

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
KCNIP1	2	["Epilepsy","Sclerosing cholangitis"]	0	[]	2	["Disgenet (Epilepsy)","GWAS catalog (Sclerosing cholangitis)"]
BSN	2	["Epilepsy","Sclerosing cholangitis"]	0	[]	3	["GWAS catalog (Ankylosing spondylitis)","Disgenet (Epilepsy)","GWAS catalog (Sclerosing cholangitis)"]
CD6	1	["Sclerosing cholangitis"]	0	[]	4	["GWAS catalog (Ankylosing spondylitis)","Disgenet (Multiple sclerosis)","CTD (Multiple sclerosis)","GWAS catalog (Sclerosing cholangitis)"]
KPNA7	2	["Epilepsy","Sclerosing cholangitis"]	0	[]	2	["GWAS catalog (Ankylosing spondylitis)","GWAS catalog (Sclerosing cholangitis)"]
XBP1	0	[]	6	["Protein processing in endoplasmic reticulum","Non-alcoholic fatty liver disease","Parkinson disease","Spinocerebellar ataxia","Lipid and atherosclerosis","IRE1alpha activates chaperones"]	2	["Disgenet (Multiple sclerosis)","CTD (Multiple sclerosis)"]

Diseases Linked via Similar Genes

Inflammatory bowel disease Linked via 3 of 5 related genesBSN, CD6, KPNA7 Attention deficit hyperactivity disorder Linked via 2 of 5 related genesKCNIP1, BSN Obstructive pulmonary disease Linked via 2 of 5 related genesKCNIP1, BSN Bipolar disorder Linked via 2 of 5 related genesBSN, XBP1 Prostate cancer Linked via 2 of 5 related genesBSN, CD6

Disease	Linked Via (Gene Count)	Linked Via (Gene Names)
Inflammatory bowel disease	3	["BSN","CD6","KPNA7"]
Attention deficit hyperactivity disorder	2	["KCNIP1","BSN"]
Obstructive pulmonary disease	2	["KCNIP1","BSN"]
Bipolar disorder	2	["BSN","XBP1"]
Prostate cancer	2	["BSN","CD6"]