UQCR10 (ubiquinol-cytochrome c reductase, complex III subunit X)

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Gene

• Entrez ID: 29796
• Gene name: Ubiquinol-cytochrome c reductase, complex III subunit X
• Gene symbol: UQCR10
• Synonyms (NCBI Gene): HSPC051, HSPC119, HSPC151, QCR9, UCCR7.2, UCRC
• Chromosome: 22
• Chromosome location: 22q12.2
• Summary: UCRC is a subunit of mitochondrial complex III (ubiquinol-cytochrome c reductase; EC 1.10.2.2), which forms the middle segment of the respiratory chain of the inner mitochondrial membrane (Schagger et al., 1995 [PubMed 8592474]).[supplied by OMIM, Mar 200

miRNA Show/Hide all (316)

miRTarBase ID	miRNA	Experiments	Reference
MIRT048647	hsa-miR-99a-5p	CLASH	23622248
MIRT046897	hsa-miR-221-3p	CLASH	23622248
MIRT042747	hsa-miR-339-5p	CLASH	23622248
MIRT495635	hsa-miR-3667-5p	PAR-CLIP	22291592
MIRT495634	hsa-miR-548ao-3p	PAR-CLIP	22291592
MIRT495633	hsa-miR-5195-5p	PAR-CLIP	22291592
MIRT495632	hsa-miR-4717-5p	PAR-CLIP	22291592
MIRT495631	hsa-miR-15a-3p	PAR-CLIP	22291592
MIRT495630	hsa-miR-6846-3p	PAR-CLIP	22291592
MIRT495629	hsa-miR-5704	PAR-CLIP	22291592
MIRT495635	hsa-miR-3667-5p	PAR-CLIP	22291592
MIRT495634	hsa-miR-548ao-3p	PAR-CLIP	22291592
MIRT495633	hsa-miR-5195-5p	PAR-CLIP	22291592
MIRT495632	hsa-miR-4717-5p	PAR-CLIP	22291592
MIRT495631	hsa-miR-15a-3p	PAR-CLIP	22291592
MIRT495630	hsa-miR-6846-3p	PAR-CLIP	22291592
MIRT495629	hsa-miR-5704	PAR-CLIP	22291592
MIRT495635	hsa-miR-3667-5p	PAR-CLIP	22291592
MIRT495634	hsa-miR-548ao-3p	PAR-CLIP	22291592
MIRT495633	hsa-miR-5195-5p	PAR-CLIP	22291592
MIRT495632	hsa-miR-4717-5p	PAR-CLIP	22291592
MIRT495631	hsa-miR-15a-3p	PAR-CLIP	22291592
MIRT495630	hsa-miR-6846-3p	PAR-CLIP	22291592
MIRT495629	hsa-miR-5704	PAR-CLIP	22291592
MIRT495635	hsa-miR-3667-5p	PAR-CLIP	22291592
MIRT495634	hsa-miR-548ao-3p	PAR-CLIP	22291592
MIRT495633	hsa-miR-5195-5p	PAR-CLIP	22291592
MIRT495632	hsa-miR-4717-5p	PAR-CLIP	22291592
MIRT495631	hsa-miR-15a-3p	PAR-CLIP	22291592
MIRT495630	hsa-miR-6846-3p	PAR-CLIP	22291592
MIRT495629	hsa-miR-5704	PAR-CLIP	22291592
MIRT1476510	hsa-miR-1200	CLIP-seq
MIRT1476511	hsa-miR-1261	CLIP-seq
MIRT1476512	hsa-miR-1915	CLIP-seq
MIRT1476513	hsa-miR-2052	CLIP-seq
MIRT1476514	hsa-miR-23a	CLIP-seq
MIRT1476515	hsa-miR-23b	CLIP-seq
MIRT1476516	hsa-miR-23c	CLIP-seq
MIRT1476517	hsa-miR-2467-3p	CLIP-seq
MIRT1476518	hsa-miR-3074-5p	CLIP-seq
MIRT1476519	hsa-miR-3148	CLIP-seq
MIRT1476520	hsa-miR-3158-3p	CLIP-seq
MIRT1476521	hsa-miR-3545-5p	CLIP-seq
MIRT1476522	hsa-miR-3616-5p	CLIP-seq
MIRT1476523	hsa-miR-3647-5p	CLIP-seq
MIRT1476524	hsa-miR-3678-3p	CLIP-seq
MIRT1476525	hsa-miR-3688-3p	CLIP-seq
MIRT1476526	hsa-miR-371b-5p	CLIP-seq
MIRT1476527	hsa-miR-4324	CLIP-seq
MIRT1476528	hsa-miR-4670-3p	CLIP-seq
MIRT1476529	hsa-miR-4698	CLIP-seq
MIRT1476530	hsa-miR-4721	CLIP-seq
MIRT1476531	hsa-miR-4729	CLIP-seq
MIRT1476532	hsa-miR-4786-3p	CLIP-seq
MIRT1476533	hsa-miR-4795-5p	CLIP-seq
MIRT1476534	hsa-miR-544b	CLIP-seq
MIRT1476535	hsa-miR-569	CLIP-seq
MIRT1476536	hsa-miR-573	CLIP-seq
MIRT1476537	hsa-miR-578	CLIP-seq
MIRT1476538	hsa-miR-671-5p	CLIP-seq
MIRT1476539	hsa-miR-888	CLIP-seq
MIRT1476540	hsa-miR-1183	CLIP-seq
MIRT1476510	hsa-miR-1200	CLIP-seq
MIRT1476541	hsa-miR-1276	CLIP-seq
MIRT1476542	hsa-miR-129-5p	CLIP-seq
MIRT1476543	hsa-miR-147	CLIP-seq
MIRT1476513	hsa-miR-2052	CLIP-seq
MIRT1476514	hsa-miR-23a	CLIP-seq
MIRT1476515	hsa-miR-23b	CLIP-seq
MIRT1476516	hsa-miR-23c	CLIP-seq
MIRT1476544	hsa-miR-298	CLIP-seq
MIRT1476518	hsa-miR-3074-5p	CLIP-seq
MIRT1476545	hsa-miR-3136-3p	CLIP-seq
MIRT1476546	hsa-miR-3911	CLIP-seq
MIRT1476547	hsa-miR-4311	CLIP-seq
MIRT1476527	hsa-miR-4324	CLIP-seq
MIRT1476548	hsa-miR-4477a	CLIP-seq
MIRT1476549	hsa-miR-450b-5p	CLIP-seq
MIRT1476550	hsa-miR-4693-5p	CLIP-seq
MIRT1476551	hsa-miR-4712-3p	CLIP-seq
MIRT1476552	hsa-miR-4728-3p	CLIP-seq
MIRT1476531	hsa-miR-4729	CLIP-seq
MIRT1476553	hsa-miR-4742-3p	CLIP-seq
MIRT1476554	hsa-miR-507	CLIP-seq
MIRT1476534	hsa-miR-544b	CLIP-seq
MIRT1476555	hsa-miR-548ag	CLIP-seq
MIRT1476556	hsa-miR-548ai	CLIP-seq
MIRT1476557	hsa-miR-557	CLIP-seq
MIRT1476558	hsa-miR-583	CLIP-seq
MIRT1476559	hsa-miR-628-5p	CLIP-seq
MIRT1476560	hsa-miR-644	CLIP-seq
MIRT1476561	hsa-miR-663b	CLIP-seq
MIRT1476562	hsa-miR-922	CLIP-seq
MIRT1476510	hsa-miR-1200	CLIP-seq
MIRT1476513	hsa-miR-2052	CLIP-seq
MIRT1476514	hsa-miR-23a	CLIP-seq
MIRT1476515	hsa-miR-23b	CLIP-seq
MIRT1476516	hsa-miR-23c	CLIP-seq
MIRT1476518	hsa-miR-3074-5p	CLIP-seq
MIRT1476531	hsa-miR-4729	CLIP-seq
MIRT1476514	hsa-miR-23a	CLIP-seq
MIRT1476515	hsa-miR-23b	CLIP-seq
MIRT1476516	hsa-miR-23c	CLIP-seq
MIRT1476518	hsa-miR-3074-5p	CLIP-seq
MIRT1476531	hsa-miR-4729	CLIP-seq
MIRT1476510	hsa-miR-1200	CLIP-seq
MIRT1476541	hsa-miR-1276	CLIP-seq
MIRT2143563	hsa-miR-1285	CLIP-seq
MIRT2143564	hsa-miR-1293	CLIP-seq
MIRT2143565	hsa-miR-1911	CLIP-seq
MIRT1476514	hsa-miR-23a	CLIP-seq
MIRT1476515	hsa-miR-23b	CLIP-seq
MIRT1476516	hsa-miR-23c	CLIP-seq
MIRT2143566	hsa-miR-2467-5p	CLIP-seq
MIRT1476544	hsa-miR-298	CLIP-seq
MIRT1476518	hsa-miR-3074-5p	CLIP-seq
MIRT2143567	hsa-miR-3187-5p	CLIP-seq
MIRT2143568	hsa-miR-3188	CLIP-seq
MIRT2143569	hsa-miR-3200-3p	CLIP-seq
MIRT2143570	hsa-miR-323-5p	CLIP-seq
MIRT2143571	hsa-miR-326	CLIP-seq
MIRT2143572	hsa-miR-330-5p	CLIP-seq
MIRT2143573	hsa-miR-3661	CLIP-seq
MIRT2143574	hsa-miR-378g	CLIP-seq
MIRT2143575	hsa-miR-3975	CLIP-seq
MIRT2143576	hsa-miR-4267	CLIP-seq
MIRT1476547	hsa-miR-4311	CLIP-seq
MIRT1476527	hsa-miR-4324	CLIP-seq
MIRT2143577	hsa-miR-4483	CLIP-seq
MIRT2143578	hsa-miR-4486	CLIP-seq
MIRT2143579	hsa-miR-4535	CLIP-seq
MIRT2143580	hsa-miR-4649-3p	CLIP-seq
MIRT2143581	hsa-miR-4709-3p	CLIP-seq
MIRT1476552	hsa-miR-4728-3p	CLIP-seq
MIRT1476531	hsa-miR-4729	CLIP-seq
MIRT2143582	hsa-miR-4731-5p	CLIP-seq
MIRT2143583	hsa-miR-4790-3p	CLIP-seq
MIRT2143584	hsa-miR-4800-5p	CLIP-seq
MIRT2143585	hsa-miR-485-5p	CLIP-seq
MIRT2143586	hsa-miR-492	CLIP-seq
MIRT2143587	hsa-miR-498	CLIP-seq
MIRT2143588	hsa-miR-513c	CLIP-seq
MIRT2143589	hsa-miR-514b-5p	CLIP-seq
MIRT1476534	hsa-miR-544b	CLIP-seq
MIRT1476555	hsa-miR-548ag	CLIP-seq
MIRT1476556	hsa-miR-548ai	CLIP-seq
MIRT1476537	hsa-miR-578	CLIP-seq
MIRT1476558	hsa-miR-583	CLIP-seq
MIRT2143590	hsa-miR-612	CLIP-seq
MIRT1476559	hsa-miR-628-5p	CLIP-seq
MIRT2143591	hsa-miR-631	CLIP-seq
MIRT2143592	hsa-miR-766	CLIP-seq
MIRT2143593	hsa-miR-876-3p	CLIP-seq
MIRT1476562	hsa-miR-922	CLIP-seq
MIRT1476510	hsa-miR-1200	CLIP-seq
MIRT1476541	hsa-miR-1276	CLIP-seq
MIRT2143563	hsa-miR-1285	CLIP-seq
MIRT2143564	hsa-miR-1293	CLIP-seq
MIRT2143565	hsa-miR-1911	CLIP-seq
MIRT1476513	hsa-miR-2052	CLIP-seq
MIRT1476514	hsa-miR-23a	CLIP-seq
MIRT1476515	hsa-miR-23b	CLIP-seq
MIRT1476516	hsa-miR-23c	CLIP-seq
MIRT2143566	hsa-miR-2467-5p	CLIP-seq
MIRT1476544	hsa-miR-298	CLIP-seq
MIRT1476518	hsa-miR-3074-5p	CLIP-seq
MIRT2143567	hsa-miR-3187-5p	CLIP-seq
MIRT2143568	hsa-miR-3188	CLIP-seq
MIRT2143569	hsa-miR-3200-3p	CLIP-seq
MIRT2143570	hsa-miR-323-5p	CLIP-seq
MIRT2143571	hsa-miR-326	CLIP-seq
MIRT2143572	hsa-miR-330-5p	CLIP-seq
MIRT2143573	hsa-miR-3661	CLIP-seq
MIRT2143574	hsa-miR-378g	CLIP-seq
MIRT2143575	hsa-miR-3975	CLIP-seq
MIRT2143576	hsa-miR-4267	CLIP-seq
MIRT1476547	hsa-miR-4311	CLIP-seq
MIRT1476527	hsa-miR-4324	CLIP-seq
MIRT2363804	hsa-miR-4470	CLIP-seq
MIRT2143577	hsa-miR-4483	CLIP-seq
MIRT2143578	hsa-miR-4486	CLIP-seq
MIRT2143579	hsa-miR-4535	CLIP-seq
MIRT2143580	hsa-miR-4649-3p	CLIP-seq
MIRT2143581	hsa-miR-4709-3p	CLIP-seq
MIRT1476552	hsa-miR-4728-3p	CLIP-seq
MIRT1476531	hsa-miR-4729	CLIP-seq
MIRT2143582	hsa-miR-4731-5p	CLIP-seq
MIRT2143583	hsa-miR-4790-3p	CLIP-seq
MIRT2143584	hsa-miR-4800-5p	CLIP-seq
MIRT2143585	hsa-miR-485-5p	CLIP-seq
MIRT2143586	hsa-miR-492	CLIP-seq
MIRT2143587	hsa-miR-498	CLIP-seq
MIRT2143588	hsa-miR-513c	CLIP-seq
MIRT2143589	hsa-miR-514b-5p	CLIP-seq
MIRT1476534	hsa-miR-544b	CLIP-seq
MIRT1476555	hsa-miR-548ag	CLIP-seq
MIRT1476556	hsa-miR-548ai	CLIP-seq
MIRT1476537	hsa-miR-578	CLIP-seq
MIRT1476558	hsa-miR-583	CLIP-seq
MIRT2143590	hsa-miR-612	CLIP-seq
MIRT1476559	hsa-miR-628-5p	CLIP-seq
MIRT2143591	hsa-miR-631	CLIP-seq
MIRT2143592	hsa-miR-766	CLIP-seq
MIRT2143593	hsa-miR-876-3p	CLIP-seq
MIRT1476562	hsa-miR-922	CLIP-seq
MIRT1476510	hsa-miR-1200	CLIP-seq
MIRT1476541	hsa-miR-1276	CLIP-seq
MIRT2143563	hsa-miR-1285	CLIP-seq
MIRT2143565	hsa-miR-1911	CLIP-seq
MIRT1476513	hsa-miR-2052	CLIP-seq
MIRT1476514	hsa-miR-23a	CLIP-seq
MIRT1476515	hsa-miR-23b	CLIP-seq
MIRT1476516	hsa-miR-23c	CLIP-seq
MIRT2143566	hsa-miR-2467-5p	CLIP-seq
MIRT1476544	hsa-miR-298	CLIP-seq
MIRT1476518	hsa-miR-3074-5p	CLIP-seq
MIRT2143567	hsa-miR-3187-5p	CLIP-seq
MIRT2143568	hsa-miR-3188	CLIP-seq
MIRT2143569	hsa-miR-3200-3p	CLIP-seq
MIRT2143570	hsa-miR-323-5p	CLIP-seq
MIRT2143571	hsa-miR-326	CLIP-seq
MIRT2657546	hsa-miR-330-3p	CLIP-seq
MIRT2143572	hsa-miR-330-5p	CLIP-seq
MIRT2657547	hsa-miR-3668	CLIP-seq
MIRT2143574	hsa-miR-378g	CLIP-seq
MIRT2657548	hsa-miR-3927	CLIP-seq
MIRT2143575	hsa-miR-3975	CLIP-seq
MIRT2143576	hsa-miR-4267	CLIP-seq
MIRT1476547	hsa-miR-4311	CLIP-seq
MIRT1476527	hsa-miR-4324	CLIP-seq
MIRT2657549	hsa-miR-4424	CLIP-seq
MIRT2657550	hsa-miR-4451	CLIP-seq
MIRT2143578	hsa-miR-4486	CLIP-seq
MIRT2143580	hsa-miR-4649-3p	CLIP-seq
MIRT2657551	hsa-miR-4699-5p	CLIP-seq
MIRT2143581	hsa-miR-4709-3p	CLIP-seq
MIRT1476552	hsa-miR-4728-3p	CLIP-seq
MIRT1476531	hsa-miR-4729	CLIP-seq
MIRT2657552	hsa-miR-4772-5p	CLIP-seq
MIRT2143583	hsa-miR-4790-3p	CLIP-seq
MIRT2143585	hsa-miR-485-5p	CLIP-seq
MIRT2657553	hsa-miR-495	CLIP-seq
MIRT2143587	hsa-miR-498	CLIP-seq
MIRT2143588	hsa-miR-513c	CLIP-seq
MIRT2143589	hsa-miR-514b-5p	CLIP-seq
MIRT1476534	hsa-miR-544b	CLIP-seq
MIRT1476555	hsa-miR-548ag	CLIP-seq
MIRT1476556	hsa-miR-548ai	CLIP-seq
MIRT1476537	hsa-miR-578	CLIP-seq
MIRT1476558	hsa-miR-583	CLIP-seq
MIRT2143590	hsa-miR-612	CLIP-seq
MIRT1476559	hsa-miR-628-5p	CLIP-seq
MIRT2143592	hsa-miR-766	CLIP-seq
MIRT2143593	hsa-miR-876-3p	CLIP-seq
MIRT1476562	hsa-miR-922	CLIP-seq
MIRT1476510	hsa-miR-1200	CLIP-seq
MIRT2694782	hsa-miR-1237	CLIP-seq
MIRT2694783	hsa-miR-1248	CLIP-seq
MIRT1476541	hsa-miR-1276	CLIP-seq
MIRT2143563	hsa-miR-1285	CLIP-seq
MIRT2143564	hsa-miR-1293	CLIP-seq
MIRT2143565	hsa-miR-1911	CLIP-seq
MIRT1476513	hsa-miR-2052	CLIP-seq
MIRT1476514	hsa-miR-23a	CLIP-seq
MIRT1476515	hsa-miR-23b	CLIP-seq
MIRT1476516	hsa-miR-23c	CLIP-seq
MIRT2143566	hsa-miR-2467-5p	CLIP-seq
MIRT1476544	hsa-miR-298	CLIP-seq
MIRT1476518	hsa-miR-3074-5p	CLIP-seq
MIRT2143567	hsa-miR-3187-5p	CLIP-seq
MIRT2143568	hsa-miR-3188	CLIP-seq
MIRT2143569	hsa-miR-3200-3p	CLIP-seq
MIRT2143570	hsa-miR-323-5p	CLIP-seq
MIRT2143571	hsa-miR-326	CLIP-seq
MIRT2657546	hsa-miR-330-3p	CLIP-seq
MIRT2143572	hsa-miR-330-5p	CLIP-seq
MIRT2143573	hsa-miR-3661	CLIP-seq
MIRT2657547	hsa-miR-3668	CLIP-seq
MIRT2143574	hsa-miR-378g	CLIP-seq
MIRT2657548	hsa-miR-3927	CLIP-seq
MIRT2143575	hsa-miR-3975	CLIP-seq
MIRT2143576	hsa-miR-4267	CLIP-seq
MIRT1476547	hsa-miR-4311	CLIP-seq
MIRT1476527	hsa-miR-4324	CLIP-seq
MIRT2657549	hsa-miR-4424	CLIP-seq
MIRT2657550	hsa-miR-4451	CLIP-seq
MIRT2363804	hsa-miR-4470	CLIP-seq
MIRT2143577	hsa-miR-4483	CLIP-seq
MIRT2143578	hsa-miR-4486	CLIP-seq
MIRT2143579	hsa-miR-4535	CLIP-seq
MIRT2143580	hsa-miR-4649-3p	CLIP-seq
MIRT2657551	hsa-miR-4699-5p	CLIP-seq
MIRT2143581	hsa-miR-4709-3p	CLIP-seq
MIRT1476552	hsa-miR-4728-3p	CLIP-seq
MIRT1476531	hsa-miR-4729	CLIP-seq
MIRT2143582	hsa-miR-4731-5p	CLIP-seq
MIRT2657552	hsa-miR-4772-5p	CLIP-seq
MIRT2143583	hsa-miR-4790-3p	CLIP-seq
MIRT2143584	hsa-miR-4800-5p	CLIP-seq
MIRT2143585	hsa-miR-485-5p	CLIP-seq
MIRT2143586	hsa-miR-492	CLIP-seq
MIRT2657553	hsa-miR-495	CLIP-seq
MIRT2143587	hsa-miR-498	CLIP-seq
MIRT2143588	hsa-miR-513c	CLIP-seq
MIRT2143589	hsa-miR-514b-5p	CLIP-seq
MIRT1476534	hsa-miR-544b	CLIP-seq
MIRT1476555	hsa-miR-548ag	CLIP-seq
MIRT1476556	hsa-miR-548ai	CLIP-seq
MIRT1476537	hsa-miR-578	CLIP-seq
MIRT1476558	hsa-miR-583	CLIP-seq
MIRT2143590	hsa-miR-612	CLIP-seq
MIRT1476559	hsa-miR-628-5p	CLIP-seq
MIRT2143591	hsa-miR-631	CLIP-seq
MIRT2143592	hsa-miR-766	CLIP-seq
MIRT2143593	hsa-miR-876-3p	CLIP-seq
MIRT1476562	hsa-miR-922	CLIP-seq

Gene ontology (GO) Show/Hide all (16)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	35101990
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IEA
GO:0005743	Component	Mitochondrial inner membrane	IDA	28844695
GO:0005743	Component	Mitochondrial inner membrane	IEA
GO:0005743	Component	Mitochondrial inner membrane	IEA
GO:0005743	Component	Mitochondrial inner membrane	TAS
GO:0006122	Process	Mitochondrial electron transport, ubiquinol to cytochrome c	IBA
GO:0006122	Process	Mitochondrial electron transport, ubiquinol to cytochrome c	IEA
GO:0006122	Process	Mitochondrial electron transport, ubiquinol to cytochrome c	NAS	8592474, 28844695
GO:0008121	Function	Quinol-cytochrome-c reductase activity	NAS	8592474
GO:0016020	Component	Membrane	IEA
GO:0045275	Component	Respiratory chain complex III	IBA
GO:0045275	Component	Respiratory chain complex III	IEA
GO:0045333	Process	Cellular respiration	NAS	28844695
GO:1902600	Process	Proton transmembrane transport	IEA

Other IDs

• MIM: 610843
• HGNC: 30863
• e!Ensembl: ENSG00000184076

Protein

• UniProt ID: Q9UDW1
• Protein name: Cytochrome b-c1 complex subunit 9 (Complex III subunit 9) (Complex III subunit X) (Cytochrome c1 non-heme 7 kDa protein) (Ubiquinol-cytochrome c reductase complex 7.2 kDa protein)
• Protein function: Component of the ubiquinol-cytochrome c oxidoreductase, a multisubunit transmembrane complex that is part of the mitochondrial electron transport chain which drives oxidative phosphorylation. The respiratory chain contains 3 multisubunit complex
• PDB: 5XTE , 5XTH , 5XTI
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF05365	UCR_UQCRX_QCR9	8 → 60	Ubiquinol-cytochrome C reductase, UQCRX/QCR9 like	Family

• Sequence:

  MAAATLTSKLYSLLFRRTSTFALTIIVGVMFFERAFDQGADAIYDHINEGKLWKHIKHKY
  ENK

• Sequence length: 63

Pathways

KEGG Pathway	Reactome Pathway
Oxidative phosphorylation	Respiratory electron transport
Metabolic pathways
Cardiac muscle contraction
Thermogenesis
Non-alcoholic fatty liver disease
Alzheimer disease
Parkinson disease
Amyotrophic lateral sclerosis
Huntington disease
Prion disease
Pathways of neurodegeneration - multiple diseases
Chemical carcinogenesis - reactive oxygen species
Diabetic cardiomyopathy

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 (6)
Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
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
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	34594039	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ULCERATIVE COLITIS	—	GWAS catalog	26974007	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining Show/Hide Text Mining Associations (6)
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Ankylosing spondylitis	Ankylosing Spondylitis	GWASCAT_DG	26974007		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	33506299	Associate	★☆☆☆☆ Found in Text Mining only
Cholangitis, Sclerosing	Cholangitis	GWASCAT_DG	26974007		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	GWASCAT_DG	26974007		★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	GWASCAT_DG	26974007		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ulcerative Colitis	Ulcerative colitis	GWASCAT_DG	26974007		★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Related Genes

Sort by: Blended Diseases Pathways Evidence source

AQP12B 1 shared diseaseSclerosing cholangitis 2 shared evidence sourcesGWAS catalog (Ankylosing spondylitis), GWAS catalog (Sclerosing cholangitis) Related via 1 shared disease including Sclerosing cholangitis — evidence mostly GWAS catalog. GAL3ST2 1 shared diseaseSclerosing cholangitis 2 shared evidence sourcesGWAS catalog (Ankylosing spondylitis), GWAS catalog (Sclerosing cholangitis) Related via 1 shared disease including Sclerosing cholangitis — evidence mostly GWAS catalog. GLYAT 1 shared diseaseSclerosing cholangitis 2 shared evidence sourcesGWAS catalog (Ankylosing spondylitis), GWAS catalog (Sclerosing cholangitis) Related via 1 shared disease including Sclerosing cholangitis — evidence mostly GWAS catalog. KSR1 1 shared diseaseSclerosing cholangitis 2 shared evidence sourcesGWAS catalog (Ankylosing spondylitis), GWAS catalog (Sclerosing cholangitis) Related via 1 shared disease including Sclerosing cholangitis — evidence mostly GWAS catalog. LPXN 1 shared diseaseSclerosing cholangitis 2 shared evidence sourcesGWAS catalog (Ankylosing spondylitis), GWAS catalog (Sclerosing cholangitis) Related via 1 shared disease including Sclerosing cholangitis — evidence mostly GWAS catalog.

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
AQP12B	1	["Sclerosing cholangitis"]	0	[]	2	["GWAS catalog (Ankylosing spondylitis)","GWAS catalog (Sclerosing cholangitis)"]
GAL3ST2	1	["Sclerosing cholangitis"]	0	[]	2	["GWAS catalog (Ankylosing spondylitis)","GWAS catalog (Sclerosing cholangitis)"]
GLYAT	1	["Sclerosing cholangitis"]	0	[]	2	["GWAS catalog (Ankylosing spondylitis)","GWAS catalog (Sclerosing cholangitis)"]
KSR1	1	["Sclerosing cholangitis"]	0	[]	2	["GWAS catalog (Ankylosing spondylitis)","GWAS catalog (Sclerosing cholangitis)"]
LPXN	1	["Sclerosing cholangitis"]	0	[]	2	["GWAS catalog (Ankylosing spondylitis)","GWAS catalog (Sclerosing cholangitis)"]

Diseases Linked via Similar Genes

Inflammatory bowel disease Linked via 5 of 5 related genesAQP12B, GAL3ST2, GLYAT, KSR1, LPXN Open angle glaucoma Linked via 2 of 5 related genesGLYAT, LPXN Asthma Linked via 1 of 5 related genesGAL3ST2 Bipolar disorder Linked via 1 of 5 related genesGLYAT Cardiovascular disease Linked via 1 of 5 related genesGLYAT

Disease	Linked Via (Gene Count)	Linked Via (Gene Names)
Inflammatory bowel disease	5	["AQP12B","GAL3ST2","GLYAT","KSR1","LPXN"]
Open angle glaucoma	2	["GLYAT","LPXN"]
Asthma	1	["GAL3ST2"]
Bipolar disorder	1	["GLYAT"]
Cardiovascular disease	1	["GLYAT"]