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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	1303
Gene name	Collagen type XII alpha 1 chain
Gene symbol	COL12A1
Synonyms (NCBI Gene)	BA209D8.1BTHLM2COL12A1LDJ234P15.1EDSMYPUCMD2
Chromosome	6
Chromosome location	6q13-q14.1
Summary	This gene encodes the alpha chain of type XII collagen, a member of the FACIT (fibril-associated collagens with interrupted triple helices) collagen family. Type XII collagen is a homotrimer found in association with type I collagen, an association that i

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SNP ID	Visualize variation	Clinical significance	Consequence
rs41266761	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs151324784	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs200201449	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs200443479	G>A,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, intron variant, missense variant
rs200487396	G>A,T	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs201337277	G>A,T	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant, synonymous variant
rs371399251	G>A,T	Pathogenic	Synonymous variant, coding sequence variant, stop gained
rs375760724	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs755536829	T>C	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs796052093	A>G	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs796052094	C>T	Pathogenic	Missense variant, coding sequence variant
rs875989819	C>T	Pathogenic	Splice donor variant
rs984314526	G>A,C	Pathogenic	Stop gained, missense variant, coding sequence variant
rs1064795770	A>G	Likely-pathogenic	Splice donor variant
rs1064797326	C>T	Likely-pathogenic	Splice donor variant
rs1131691587	G>A	Likely-pathogenic	Intron variant, coding sequence variant, missense variant
rs1131691933	G>A	Likely-pathogenic	Stop gained, coding sequence variant
rs1274606112	C>T	Likely-pathogenic	Splice donor variant
rs1329022055	G>A	Pathogenic	Intron variant, stop gained, coding sequence variant
rs1366112521	C>T	Likely-pathogenic	Splice donor variant
rs1471550984	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs1554168326	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1554169319	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1554182935	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1562223444	G>A	Pathogenic	Coding sequence variant, stop gained
rs1562294703	G>A	Likely-pathogenic	Coding sequence variant, stop gained, intron variant
rs1562310723	T>G	Likely-pathogenic	Splice acceptor variant, intron variant
rs1582025807	->T	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1582068925	GT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1582133194	->A	Pathogenic	Coding sequence variant, frameshift variant
rs1582139761	A>C	Pathogenic	Stop gained, coding sequence variant
rs1582196903	->T	Pathogenic	Coding sequence variant, frameshift variant, intron variant
rs1582208315	->T	Likely-pathogenic	Coding sequence variant, frameshift variant, intron variant

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miRTarBase ID	miRNA	Experiments	Reference
MIRT020009	hsa-miR-375	Microarray	20215506
MIRT021464	hsa-miR-9-5p	Microarray	17612493
MIRT023070	hsa-miR-124-3p	Proteomics;Microarray	18668037
MIRT024050	hsa-miR-1-3p	Proteomics;Microarray	18668037
MIRT438071	hsa-miR-26b-5p	pSILAC	23939832
MIRT438071	hsa-miR-26b-5p	pSILAC	23939832
MIRT023070	hsa-miR-124-3p	HITS-CLIP	23824327
MIRT624309	hsa-miR-8485	HITS-CLIP	23824327
MIRT624308	hsa-miR-3120-3p	HITS-CLIP	23824327
MIRT624307	hsa-miR-548p	HITS-CLIP	23824327
MIRT624306	hsa-miR-5582-5p	HITS-CLIP	23824327
MIRT624305	hsa-miR-545-3p	HITS-CLIP	23824327
MIRT624304	hsa-miR-605-3p	HITS-CLIP	23824327
MIRT624303	hsa-miR-548aj-5p	HITS-CLIP	23824327
MIRT624302	hsa-miR-548f-5p	HITS-CLIP	23824327
MIRT624301	hsa-miR-548g-5p	HITS-CLIP	23824327
MIRT624300	hsa-miR-548x-5p	HITS-CLIP	23824327
MIRT023070	hsa-miR-124-3p	HITS-CLIP	23824327
MIRT624309	hsa-miR-8485	HITS-CLIP	23824327
MIRT624308	hsa-miR-3120-3p	HITS-CLIP	23824327
MIRT624307	hsa-miR-548p	HITS-CLIP	23824327
MIRT624306	hsa-miR-5582-5p	HITS-CLIP	23824327
MIRT624305	hsa-miR-545-3p	HITS-CLIP	23824327
MIRT624304	hsa-miR-605-3p	HITS-CLIP	23824327
MIRT624303	hsa-miR-548aj-5p	HITS-CLIP	23824327
MIRT624302	hsa-miR-548f-5p	HITS-CLIP	23824327
MIRT624301	hsa-miR-548g-5p	HITS-CLIP	23824327
MIRT624300	hsa-miR-548x-5p	HITS-CLIP	23824327
MIRT628765	hsa-miR-4533	HITS-CLIP	23824327
MIRT628764	hsa-miR-3202	HITS-CLIP	23824327
MIRT629716	hsa-miR-6079	HITS-CLIP	23824327
MIRT659434	hsa-miR-551b-5p	HITS-CLIP	23824327
MIRT023070	hsa-miR-124-3p	HITS-CLIP	23824327
MIRT624309	hsa-miR-8485	HITS-CLIP	23824327
MIRT624308	hsa-miR-3120-3p	HITS-CLIP	23824327
MIRT624307	hsa-miR-548p	HITS-CLIP	23824327
MIRT624306	hsa-miR-5582-5p	HITS-CLIP	23824327
MIRT624305	hsa-miR-545-3p	HITS-CLIP	23824327
MIRT624304	hsa-miR-605-3p	HITS-CLIP	23824327
MIRT624303	hsa-miR-548aj-5p	HITS-CLIP	23824327
MIRT624302	hsa-miR-548f-5p	HITS-CLIP	23824327
MIRT624301	hsa-miR-548g-5p	HITS-CLIP	23824327
MIRT624300	hsa-miR-548x-5p	HITS-CLIP	23824327
MIRT628765	hsa-miR-4533	HITS-CLIP	23824327
MIRT628764	hsa-miR-3202	HITS-CLIP	23824327
MIRT023070	hsa-miR-124-3p	HITS-CLIP	23824327
MIRT624309	hsa-miR-8485	HITS-CLIP	23824327
MIRT624308	hsa-miR-3120-3p	HITS-CLIP	23824327
MIRT624307	hsa-miR-548p	HITS-CLIP	23824327
MIRT624306	hsa-miR-5582-5p	HITS-CLIP	23824327
MIRT624305	hsa-miR-545-3p	HITS-CLIP	23824327
MIRT624304	hsa-miR-605-3p	HITS-CLIP	23824327
MIRT624303	hsa-miR-548aj-5p	HITS-CLIP	23824327
MIRT624302	hsa-miR-548f-5p	HITS-CLIP	23824327
MIRT624301	hsa-miR-548g-5p	HITS-CLIP	23824327
MIRT624300	hsa-miR-548x-5p	HITS-CLIP	23824327
MIRT023070	hsa-miR-124-3p	HITS-CLIP	23824327
MIRT624309	hsa-miR-8485	HITS-CLIP	23824327
MIRT624308	hsa-miR-3120-3p	HITS-CLIP	23824327
MIRT624307	hsa-miR-548p	HITS-CLIP	23824327
MIRT624306	hsa-miR-5582-5p	HITS-CLIP	23824327
MIRT624305	hsa-miR-545-3p	HITS-CLIP	23824327
MIRT624304	hsa-miR-605-3p	HITS-CLIP	23824327
MIRT624303	hsa-miR-548aj-5p	HITS-CLIP	23824327
MIRT624302	hsa-miR-548f-5p	HITS-CLIP	23824327
MIRT624301	hsa-miR-548g-5p	HITS-CLIP	23824327
MIRT624300	hsa-miR-548x-5p	HITS-CLIP	23824327
MIRT023070	hsa-miR-124-3p	HITS-CLIP	23824327
MIRT624309	hsa-miR-8485	HITS-CLIP	23824327
MIRT624308	hsa-miR-3120-3p	HITS-CLIP	23824327
MIRT624307	hsa-miR-548p	HITS-CLIP	23824327
MIRT624306	hsa-miR-5582-5p	HITS-CLIP	23824327
MIRT624305	hsa-miR-545-3p	HITS-CLIP	23824327
MIRT624304	hsa-miR-605-3p	HITS-CLIP	23824327
MIRT624303	hsa-miR-548aj-5p	HITS-CLIP	23824327
MIRT624302	hsa-miR-548f-5p	HITS-CLIP	23824327
MIRT624301	hsa-miR-548g-5p	HITS-CLIP	23824327
MIRT624300	hsa-miR-548x-5p	HITS-CLIP	23824327
MIRT628765	hsa-miR-4533	HITS-CLIP	23824327
MIRT628764	hsa-miR-3202	HITS-CLIP	23824327
MIRT629716	hsa-miR-6079	HITS-CLIP	23824327
MIRT023070	hsa-miR-124-3p	HITS-CLIP	23824327
MIRT624309	hsa-miR-8485	HITS-CLIP	23824327
MIRT624308	hsa-miR-3120-3p	HITS-CLIP	23824327
MIRT624307	hsa-miR-548p	HITS-CLIP	23824327
MIRT624306	hsa-miR-5582-5p	HITS-CLIP	23824327
MIRT624305	hsa-miR-545-3p	HITS-CLIP	23824327
MIRT624304	hsa-miR-605-3p	HITS-CLIP	23824327
MIRT624303	hsa-miR-548aj-5p	HITS-CLIP	23824327
MIRT624302	hsa-miR-548f-5p	HITS-CLIP	23824327
MIRT624301	hsa-miR-548g-5p	HITS-CLIP	23824327
MIRT624300	hsa-miR-548x-5p	HITS-CLIP	23824327
MIRT628765	hsa-miR-4533	HITS-CLIP	23824327
MIRT628764	hsa-miR-3202	HITS-CLIP	23824327
MIRT023070	hsa-miR-124-3p	HITS-CLIP	23824327
MIRT624309	hsa-miR-8485	HITS-CLIP	23824327
MIRT624308	hsa-miR-3120-3p	HITS-CLIP	23824327
MIRT624307	hsa-miR-548p	HITS-CLIP	23824327
MIRT624306	hsa-miR-5582-5p	HITS-CLIP	23824327
MIRT624305	hsa-miR-545-3p	HITS-CLIP	23824327
MIRT624304	hsa-miR-605-3p	HITS-CLIP	23824327
MIRT624303	hsa-miR-548aj-5p	HITS-CLIP	23824327
MIRT624302	hsa-miR-548f-5p	HITS-CLIP	23824327
MIRT624301	hsa-miR-548g-5p	HITS-CLIP	23824327
MIRT624300	hsa-miR-548x-5p	HITS-CLIP	23824327
MIRT023070	hsa-miR-124-3p	HITS-CLIP	23824327
MIRT624309	hsa-miR-8485	HITS-CLIP	23824327
MIRT624308	hsa-miR-3120-3p	HITS-CLIP	23824327
MIRT624307	hsa-miR-548p	HITS-CLIP	23824327
MIRT624306	hsa-miR-5582-5p	HITS-CLIP	23824327
MIRT624305	hsa-miR-545-3p	HITS-CLIP	23824327
MIRT624304	hsa-miR-605-3p	HITS-CLIP	23824327
MIRT624303	hsa-miR-548aj-5p	HITS-CLIP	23824327
MIRT624302	hsa-miR-548f-5p	HITS-CLIP	23824327
MIRT624301	hsa-miR-548g-5p	HITS-CLIP	23824327
MIRT624300	hsa-miR-548x-5p	HITS-CLIP	23824327
MIRT483955	hsa-miR-548as-3p	PAR-CLIP	23592263
MIRT483954	hsa-miR-1252-3p	PAR-CLIP	23592263
MIRT483953	hsa-miR-4712-3p	PAR-CLIP	23592263
MIRT483952	hsa-miR-935	PAR-CLIP	23592263
MIRT483951	hsa-miR-5004-5p	PAR-CLIP	23592263
MIRT483950	hsa-miR-520d-5p	PAR-CLIP	23592263
MIRT483949	hsa-miR-524-5p	PAR-CLIP	23592263
MIRT483948	hsa-miR-455-3p	PAR-CLIP	23592263
MIRT483947	hsa-miR-6516-5p	PAR-CLIP	23592263
MIRT735528	hsa-miR-15b-5p	In situ hybridizationLuciferase reporter assayqRT-PCRWestern blotting	34233716
MIRT735950	hsa-miR-101-5p	Luciferase reporter assayWestern blottingImmunofluorescenceqRT-PCRELISA	32633566
MIRT438071	hsa-miR-26b-5p	Western blottingMicroarrayqRT-PCR	33027767
MIRT023070	hsa-miR-124-3p	HITS-CLIP	23824327
MIRT624309	hsa-miR-8485	HITS-CLIP	23824327
MIRT624308	hsa-miR-3120-3p	HITS-CLIP	23824327
MIRT624307	hsa-miR-548p	HITS-CLIP	23824327
MIRT624306	hsa-miR-5582-5p	HITS-CLIP	23824327
MIRT624305	hsa-miR-545-3p	HITS-CLIP	23824327
MIRT624304	hsa-miR-605-3p	HITS-CLIP	23824327
MIRT624303	hsa-miR-548aj-5p	HITS-CLIP	23824327
MIRT624302	hsa-miR-548f-5p	HITS-CLIP	23824327
MIRT624301	hsa-miR-548g-5p	HITS-CLIP	23824327
MIRT624300	hsa-miR-548x-5p	HITS-CLIP	23824327
MIRT023070	hsa-miR-124-3p	HITS-CLIP	23824327
MIRT624309	hsa-miR-8485	HITS-CLIP	23824327
MIRT624308	hsa-miR-3120-3p	HITS-CLIP	23824327
MIRT624307	hsa-miR-548p	HITS-CLIP	23824327
MIRT624306	hsa-miR-5582-5p	HITS-CLIP	23824327
MIRT624305	hsa-miR-545-3p	HITS-CLIP	23824327
MIRT624304	hsa-miR-605-3p	HITS-CLIP	23824327
MIRT624303	hsa-miR-548aj-5p	HITS-CLIP	23824327
MIRT624302	hsa-miR-548f-5p	HITS-CLIP	23824327
MIRT624301	hsa-miR-548g-5p	HITS-CLIP	23824327
MIRT624300	hsa-miR-548x-5p	HITS-CLIP	23824327
MIRT628765	hsa-miR-4533	HITS-CLIP	23824327
MIRT628764	hsa-miR-3202	HITS-CLIP	23824327
MIRT629716	hsa-miR-6079	HITS-CLIP	23824327
MIRT659434	hsa-miR-551b-5p	HITS-CLIP	23824327
MIRT023070	hsa-miR-124-3p	HITS-CLIP	23824327
MIRT624309	hsa-miR-8485	HITS-CLIP	23824327
MIRT624308	hsa-miR-3120-3p	HITS-CLIP	23824327
MIRT624307	hsa-miR-548p	HITS-CLIP	23824327
MIRT624306	hsa-miR-5582-5p	HITS-CLIP	23824327
MIRT624305	hsa-miR-545-3p	HITS-CLIP	23824327
MIRT624304	hsa-miR-605-3p	HITS-CLIP	23824327
MIRT624303	hsa-miR-548aj-5p	HITS-CLIP	23824327
MIRT624302	hsa-miR-548f-5p	HITS-CLIP	23824327
MIRT624301	hsa-miR-548g-5p	HITS-CLIP	23824327
MIRT624300	hsa-miR-548x-5p	HITS-CLIP	23824327
MIRT628765	hsa-miR-4533	HITS-CLIP	23824327
MIRT628764	hsa-miR-3202	HITS-CLIP	23824327
MIRT023070	hsa-miR-124-3p	HITS-CLIP	23824327
MIRT624309	hsa-miR-8485	HITS-CLIP	23824327
MIRT624308	hsa-miR-3120-3p	HITS-CLIP	23824327
MIRT624307	hsa-miR-548p	HITS-CLIP	23824327
MIRT624306	hsa-miR-5582-5p	HITS-CLIP	23824327
MIRT624305	hsa-miR-545-3p	HITS-CLIP	23824327
MIRT624304	hsa-miR-605-3p	HITS-CLIP	23824327
MIRT624303	hsa-miR-548aj-5p	HITS-CLIP	23824327
MIRT624302	hsa-miR-548f-5p	HITS-CLIP	23824327
MIRT624301	hsa-miR-548g-5p	HITS-CLIP	23824327
MIRT624300	hsa-miR-548x-5p	HITS-CLIP	23824327
MIRT023070	hsa-miR-124-3p	HITS-CLIP	23824327
MIRT624309	hsa-miR-8485	HITS-CLIP	23824327
MIRT624308	hsa-miR-3120-3p	HITS-CLIP	23824327
MIRT624307	hsa-miR-548p	HITS-CLIP	23824327
MIRT624306	hsa-miR-5582-5p	HITS-CLIP	23824327
MIRT624305	hsa-miR-545-3p	HITS-CLIP	23824327
MIRT624304	hsa-miR-605-3p	HITS-CLIP	23824327
MIRT624303	hsa-miR-548aj-5p	HITS-CLIP	23824327
MIRT624302	hsa-miR-548f-5p	HITS-CLIP	23824327
MIRT624301	hsa-miR-548g-5p	HITS-CLIP	23824327
MIRT624300	hsa-miR-548x-5p	HITS-CLIP	23824327
MIRT023070	hsa-miR-124-3p	HITS-CLIP	23824327
MIRT624309	hsa-miR-8485	HITS-CLIP	23824327
MIRT624308	hsa-miR-3120-3p	HITS-CLIP	23824327
MIRT624307	hsa-miR-548p	HITS-CLIP	23824327
MIRT624306	hsa-miR-5582-5p	HITS-CLIP	23824327
MIRT624305	hsa-miR-545-3p	HITS-CLIP	23824327
MIRT624304	hsa-miR-605-3p	HITS-CLIP	23824327
MIRT624303	hsa-miR-548aj-5p	HITS-CLIP	23824327
MIRT624302	hsa-miR-548f-5p	HITS-CLIP	23824327
MIRT624301	hsa-miR-548g-5p	HITS-CLIP	23824327
MIRT624300	hsa-miR-548x-5p	HITS-CLIP	23824327
MIRT628765	hsa-miR-4533	HITS-CLIP	23824327
MIRT628764	hsa-miR-3202	HITS-CLIP	23824327
MIRT629716	hsa-miR-6079	HITS-CLIP	23824327
MIRT023070	hsa-miR-124-3p	HITS-CLIP	23824327
MIRT624309	hsa-miR-8485	HITS-CLIP	23824327
MIRT624308	hsa-miR-3120-3p	HITS-CLIP	23824327
MIRT624307	hsa-miR-548p	HITS-CLIP	23824327
MIRT624306	hsa-miR-5582-5p	HITS-CLIP	23824327
MIRT624305	hsa-miR-545-3p	HITS-CLIP	23824327
MIRT624304	hsa-miR-605-3p	HITS-CLIP	23824327
MIRT624303	hsa-miR-548aj-5p	HITS-CLIP	23824327
MIRT624302	hsa-miR-548f-5p	HITS-CLIP	23824327
MIRT624301	hsa-miR-548g-5p	HITS-CLIP	23824327
MIRT624300	hsa-miR-548x-5p	HITS-CLIP	23824327
MIRT628765	hsa-miR-4533	HITS-CLIP	23824327
MIRT628764	hsa-miR-3202	HITS-CLIP	23824327
MIRT023070	hsa-miR-124-3p	HITS-CLIP	23824327
MIRT624309	hsa-miR-8485	HITS-CLIP	23824327
MIRT624308	hsa-miR-3120-3p	HITS-CLIP	23824327
MIRT624307	hsa-miR-548p	HITS-CLIP	23824327
MIRT624306	hsa-miR-5582-5p	HITS-CLIP	23824327
MIRT624305	hsa-miR-545-3p	HITS-CLIP	23824327
MIRT624304	hsa-miR-605-3p	HITS-CLIP	23824327
MIRT624303	hsa-miR-548aj-5p	HITS-CLIP	23824327
MIRT624302	hsa-miR-548f-5p	HITS-CLIP	23824327
MIRT624301	hsa-miR-548g-5p	HITS-CLIP	23824327
MIRT624300	hsa-miR-548x-5p	HITS-CLIP	23824327
MIRT023070	hsa-miR-124-3p	HITS-CLIP	23824327
MIRT624309	hsa-miR-8485	HITS-CLIP	23824327
MIRT624308	hsa-miR-3120-3p	HITS-CLIP	23824327
MIRT624307	hsa-miR-548p	HITS-CLIP	23824327
MIRT624306	hsa-miR-5582-5p	HITS-CLIP	23824327
MIRT624305	hsa-miR-545-3p	HITS-CLIP	23824327
MIRT624304	hsa-miR-605-3p	HITS-CLIP	23824327
MIRT624303	hsa-miR-548aj-5p	HITS-CLIP	23824327
MIRT624302	hsa-miR-548f-5p	HITS-CLIP	23824327
MIRT624301	hsa-miR-548g-5p	HITS-CLIP	23824327
MIRT624300	hsa-miR-548x-5p	HITS-CLIP	23824327
MIRT483955	hsa-miR-548as-3p	PAR-CLIP	23592263
MIRT483954	hsa-miR-1252-3p	PAR-CLIP	23592263
MIRT483953	hsa-miR-4712-3p	PAR-CLIP	23592263
MIRT483952	hsa-miR-935	PAR-CLIP	23592263
MIRT483951	hsa-miR-5004-5p	PAR-CLIP	23592263
MIRT483950	hsa-miR-520d-5p	PAR-CLIP	23592263
MIRT483949	hsa-miR-524-5p	PAR-CLIP	23592263
MIRT483948	hsa-miR-455-3p	PAR-CLIP	23592263
MIRT483947	hsa-miR-6516-5p	PAR-CLIP	23592263
MIRT902444	hsa-miR-1184	CLIP-seq
MIRT902445	hsa-miR-1205	CLIP-seq
MIRT902446	hsa-miR-124	CLIP-seq
MIRT902447	hsa-miR-298	CLIP-seq
MIRT902448	hsa-miR-3121-5p	CLIP-seq
MIRT902449	hsa-miR-3133	CLIP-seq
MIRT902450	hsa-miR-3158-5p	CLIP-seq
MIRT902451	hsa-miR-3183	CLIP-seq
MIRT902452	hsa-miR-3919	CLIP-seq
MIRT902453	hsa-miR-3926	CLIP-seq
MIRT902454	hsa-miR-3938	CLIP-seq
MIRT902455	hsa-miR-4463	CLIP-seq
MIRT902456	hsa-miR-4511	CLIP-seq
MIRT902457	hsa-miR-4640-5p	CLIP-seq
MIRT902458	hsa-miR-4667-3p	CLIP-seq
MIRT902459	hsa-miR-4723-3p	CLIP-seq
MIRT902460	hsa-miR-4726-5p	CLIP-seq
MIRT902461	hsa-miR-4756-3p	CLIP-seq
MIRT902462	hsa-miR-506	CLIP-seq
MIRT902463	hsa-miR-545	CLIP-seq
MIRT902464	hsa-miR-642a	CLIP-seq
MIRT902465	hsa-miR-3140-3p	CLIP-seq
MIRT902466	hsa-miR-548g	CLIP-seq
MIRT1546539	hsa-miR-101	CLIP-seq
MIRT1546540	hsa-miR-1226	CLIP-seq
MIRT902446	hsa-miR-124	CLIP-seq
MIRT1546541	hsa-miR-1276	CLIP-seq
MIRT1546542	hsa-miR-144	CLIP-seq
MIRT1546543	hsa-miR-183	CLIP-seq
MIRT1546544	hsa-miR-2053	CLIP-seq
MIRT1546545	hsa-miR-21	CLIP-seq
MIRT1546546	hsa-miR-219-2-3p	CLIP-seq
MIRT1546547	hsa-miR-2467-5p	CLIP-seq
MIRT902447	hsa-miR-298	CLIP-seq
MIRT1546548	hsa-miR-3125	CLIP-seq
MIRT1546549	hsa-miR-3171	CLIP-seq
MIRT1546550	hsa-miR-3188	CLIP-seq
MIRT1546551	hsa-miR-3674	CLIP-seq
MIRT1546552	hsa-miR-3714	CLIP-seq
MIRT1546553	hsa-miR-3910	CLIP-seq
MIRT1546554	hsa-miR-3913-3p	CLIP-seq
MIRT1546555	hsa-miR-3916	CLIP-seq
MIRT902452	hsa-miR-3919	CLIP-seq
MIRT1546556	hsa-miR-3925-3p	CLIP-seq
MIRT1546557	hsa-miR-3975	CLIP-seq
MIRT1546558	hsa-miR-4268	CLIP-seq
MIRT1546559	hsa-miR-4311	CLIP-seq
MIRT1546560	hsa-miR-4660	CLIP-seq
MIRT1546561	hsa-miR-4687-3p	CLIP-seq
MIRT1546562	hsa-miR-4695-5p	CLIP-seq
MIRT1546563	hsa-miR-4707-5p	CLIP-seq
MIRT1546564	hsa-miR-4710	CLIP-seq
MIRT1546565	hsa-miR-4733-3p	CLIP-seq
MIRT1546566	hsa-miR-4753-3p	CLIP-seq
MIRT902461	hsa-miR-4756-3p	CLIP-seq
MIRT1546567	hsa-miR-4768-5p	CLIP-seq
MIRT1546568	hsa-miR-4792	CLIP-seq
MIRT1546569	hsa-miR-485-5p	CLIP-seq
MIRT1546570	hsa-miR-489	CLIP-seq
MIRT902462	hsa-miR-506	CLIP-seq
MIRT1546571	hsa-miR-508-5p	CLIP-seq
MIRT1546572	hsa-miR-548an	CLIP-seq
MIRT1546573	hsa-miR-583	CLIP-seq
MIRT1546574	hsa-miR-587	CLIP-seq
MIRT1546575	hsa-miR-590-5p	CLIP-seq
MIRT1546539	hsa-miR-101	CLIP-seq
MIRT1546576	hsa-miR-1197	CLIP-seq
MIRT902446	hsa-miR-124	CLIP-seq
MIRT1546577	hsa-miR-1255a	CLIP-seq
MIRT1546578	hsa-miR-1255b	CLIP-seq
MIRT1546579	hsa-miR-139-5p	CLIP-seq
MIRT1546542	hsa-miR-144	CLIP-seq
MIRT1546580	hsa-miR-2278	CLIP-seq
MIRT1546547	hsa-miR-2467-5p	CLIP-seq
MIRT1546581	hsa-miR-302f	CLIP-seq
MIRT1546582	hsa-miR-30a	CLIP-seq
MIRT1546583	hsa-miR-30b	CLIP-seq
MIRT1546584	hsa-miR-30c	CLIP-seq
MIRT1546585	hsa-miR-30d	CLIP-seq
MIRT1546586	hsa-miR-30e	CLIP-seq
MIRT902449	hsa-miR-3133	CLIP-seq
MIRT1546587	hsa-miR-3182	CLIP-seq
MIRT1546550	hsa-miR-3188	CLIP-seq
MIRT1546588	hsa-miR-3607-3p	CLIP-seq
MIRT1546589	hsa-miR-3613-3p	CLIP-seq
MIRT1546590	hsa-miR-3618	CLIP-seq
MIRT1546591	hsa-miR-3662	CLIP-seq
MIRT1546592	hsa-miR-3690	CLIP-seq
MIRT1546593	hsa-miR-3713	CLIP-seq
MIRT1546554	hsa-miR-3913-3p	CLIP-seq
MIRT902452	hsa-miR-3919	CLIP-seq
MIRT902453	hsa-miR-3926	CLIP-seq
MIRT1546557	hsa-miR-3975	CLIP-seq
MIRT1546594	hsa-miR-4254	CLIP-seq
MIRT1546558	hsa-miR-4268	CLIP-seq
MIRT1546595	hsa-miR-4462	CLIP-seq
MIRT902455	hsa-miR-4463	CLIP-seq
MIRT1546596	hsa-miR-4474-3p	CLIP-seq
MIRT902456	hsa-miR-4511	CLIP-seq
MIRT1546597	hsa-miR-4637	CLIP-seq
MIRT902457	hsa-miR-4640-5p	CLIP-seq
MIRT902458	hsa-miR-4667-3p	CLIP-seq
MIRT1546561	hsa-miR-4687-3p	CLIP-seq
MIRT1546598	hsa-miR-4707-3p	CLIP-seq
MIRT1546599	hsa-miR-4718	CLIP-seq
MIRT902460	hsa-miR-4726-5p	CLIP-seq
MIRT1546600	hsa-miR-4747-5p	CLIP-seq
MIRT902461	hsa-miR-4756-3p	CLIP-seq
MIRT1546569	hsa-miR-485-5p	CLIP-seq
MIRT1546570	hsa-miR-489	CLIP-seq
MIRT902462	hsa-miR-506	CLIP-seq
MIRT902463	hsa-miR-545	CLIP-seq
MIRT1546601	hsa-miR-548a-5p	CLIP-seq
MIRT1546602	hsa-miR-548ab	CLIP-seq
MIRT1546603	hsa-miR-548ak	CLIP-seq
MIRT1546572	hsa-miR-548an	CLIP-seq
MIRT1546604	hsa-miR-548b-5p	CLIP-seq
MIRT1546605	hsa-miR-548c-5p	CLIP-seq
MIRT1546606	hsa-miR-548d-5p	CLIP-seq
MIRT1546607	hsa-miR-548h	CLIP-seq
MIRT1546608	hsa-miR-548i	CLIP-seq
MIRT1546609	hsa-miR-548j	CLIP-seq
MIRT1546610	hsa-miR-548n	CLIP-seq
MIRT1546611	hsa-miR-548w	CLIP-seq
MIRT1546612	hsa-miR-548y	CLIP-seq
MIRT1546613	hsa-miR-559	CLIP-seq
MIRT1546614	hsa-miR-7	CLIP-seq
MIRT1546615	hsa-miR-934	CLIP-seq
MIRT1546539	hsa-miR-101	CLIP-seq
MIRT902444	hsa-miR-1184	CLIP-seq
MIRT902445	hsa-miR-1205	CLIP-seq
MIRT1546540	hsa-miR-1226	CLIP-seq
MIRT902446	hsa-miR-124	CLIP-seq
MIRT2203458	hsa-miR-1273	CLIP-seq
MIRT2203459	hsa-miR-1297	CLIP-seq
MIRT1546542	hsa-miR-144	CLIP-seq
MIRT2203460	hsa-miR-15a	CLIP-seq
MIRT2203461	hsa-miR-15b	CLIP-seq
MIRT2203462	hsa-miR-16	CLIP-seq
MIRT2203463	hsa-miR-195	CLIP-seq
MIRT2203464	hsa-miR-2117	CLIP-seq
MIRT1546547	hsa-miR-2467-5p	CLIP-seq
MIRT2203465	hsa-miR-25	CLIP-seq
MIRT2203466	hsa-miR-26a	CLIP-seq
MIRT2203467	hsa-miR-26b	CLIP-seq
MIRT2203468	hsa-miR-2964a-5p	CLIP-seq
MIRT902447	hsa-miR-298	CLIP-seq
MIRT2203469	hsa-miR-3074-5p	CLIP-seq
MIRT1546582	hsa-miR-30a	CLIP-seq
MIRT1546583	hsa-miR-30b	CLIP-seq
MIRT1546584	hsa-miR-30c	CLIP-seq
MIRT1546585	hsa-miR-30d	CLIP-seq
MIRT1546586	hsa-miR-30e	CLIP-seq
MIRT902448	hsa-miR-3121-5p	CLIP-seq
MIRT2203470	hsa-miR-3129-3p	CLIP-seq
MIRT902465	hsa-miR-3140-3p	CLIP-seq
MIRT2203471	hsa-miR-3151	CLIP-seq
MIRT902450	hsa-miR-3158-5p	CLIP-seq
MIRT1546587	hsa-miR-3182	CLIP-seq
MIRT1546550	hsa-miR-3188	CLIP-seq
MIRT2203472	hsa-miR-32	CLIP-seq
MIRT2203473	hsa-miR-326	CLIP-seq
MIRT2203474	hsa-miR-330-5p	CLIP-seq
MIRT2203475	hsa-miR-338-3p	CLIP-seq
MIRT2203476	hsa-miR-3591-3p	CLIP-seq
MIRT2203477	hsa-miR-363	CLIP-seq
MIRT2203478	hsa-miR-367	CLIP-seq
MIRT1546552	hsa-miR-3714	CLIP-seq
MIRT1546553	hsa-miR-3910	CLIP-seq
MIRT1546554	hsa-miR-3913-3p	CLIP-seq
MIRT1546557	hsa-miR-3975	CLIP-seq
MIRT2203479	hsa-miR-424	CLIP-seq
MIRT2203480	hsa-miR-4272	CLIP-seq
MIRT2203481	hsa-miR-4317	CLIP-seq
MIRT2203482	hsa-miR-432	CLIP-seq
MIRT2203483	hsa-miR-4420	CLIP-seq
MIRT2203484	hsa-miR-4465	CLIP-seq
MIRT2203485	hsa-miR-4494	CLIP-seq
MIRT2203486	hsa-miR-4520a-5p	CLIP-seq
MIRT2203487	hsa-miR-4520b-5p	CLIP-seq
MIRT2203488	hsa-miR-4530	CLIP-seq
MIRT2203489	hsa-miR-4633-3p	CLIP-seq
MIRT2203490	hsa-miR-4649-3p	CLIP-seq
MIRT902458	hsa-miR-4667-3p	CLIP-seq
MIRT2203491	hsa-miR-4668-3p	CLIP-seq
MIRT2203492	hsa-miR-4672	CLIP-seq
MIRT2203493	hsa-miR-4684-5p	CLIP-seq
MIRT2203494	hsa-miR-4699-3p	CLIP-seq
MIRT1546598	hsa-miR-4707-3p	CLIP-seq
MIRT2203495	hsa-miR-4719	CLIP-seq
MIRT2203496	hsa-miR-4729	CLIP-seq
MIRT1546565	hsa-miR-4733-3p	CLIP-seq
MIRT1546600	hsa-miR-4747-5p	CLIP-seq
MIRT2203497	hsa-miR-4795-3p	CLIP-seq
MIRT1546569	hsa-miR-485-5p	CLIP-seq
MIRT1546570	hsa-miR-489	CLIP-seq
MIRT2203498	hsa-miR-497	CLIP-seq
MIRT902462	hsa-miR-506	CLIP-seq
MIRT2203499	hsa-miR-513b	CLIP-seq
MIRT2203500	hsa-miR-516a-3p	CLIP-seq
MIRT902463	hsa-miR-545	CLIP-seq
MIRT1546572	hsa-miR-548an	CLIP-seq
MIRT2203501	hsa-miR-548c-3p	CLIP-seq
MIRT902466	hsa-miR-548g	CLIP-seq
MIRT2203502	hsa-miR-551a	CLIP-seq
MIRT2203503	hsa-miR-551b	CLIP-seq
MIRT2203504	hsa-miR-624	CLIP-seq
MIRT2203505	hsa-miR-630	CLIP-seq
MIRT2203506	hsa-miR-636	CLIP-seq
MIRT2203507	hsa-miR-645	CLIP-seq
MIRT2203508	hsa-miR-646	CLIP-seq
MIRT2203509	hsa-miR-671-3p	CLIP-seq
MIRT2203510	hsa-miR-758	CLIP-seq
MIRT2203511	hsa-miR-890	CLIP-seq
MIRT2203512	hsa-miR-92a	CLIP-seq
MIRT2203513	hsa-miR-92b	CLIP-seq
MIRT902465	hsa-miR-3140-3p	CLIP-seq
MIRT2203497	hsa-miR-4795-3p	CLIP-seq
MIRT2427401	hsa-miR-1179	CLIP-seq
MIRT2427402	hsa-miR-1180	CLIP-seq
MIRT2427403	hsa-miR-1206	CLIP-seq
MIRT902446	hsa-miR-124	CLIP-seq
MIRT2427404	hsa-miR-1273g	CLIP-seq
MIRT1546541	hsa-miR-1276	CLIP-seq
MIRT2427405	hsa-miR-135a	CLIP-seq
MIRT2427406	hsa-miR-135b	CLIP-seq
MIRT2203460	hsa-miR-15a	CLIP-seq
MIRT2203461	hsa-miR-15b	CLIP-seq
MIRT2203462	hsa-miR-16	CLIP-seq
MIRT2203463	hsa-miR-195	CLIP-seq
MIRT1546544	hsa-miR-2053	CLIP-seq
MIRT1546545	hsa-miR-21	CLIP-seq
MIRT2427407	hsa-miR-216a	CLIP-seq
MIRT2427408	hsa-miR-216b	CLIP-seq
MIRT1546580	hsa-miR-2278	CLIP-seq
MIRT902447	hsa-miR-298	CLIP-seq
MIRT1546581	hsa-miR-302f	CLIP-seq
MIRT2427409	hsa-miR-3121-3p	CLIP-seq
MIRT1546548	hsa-miR-3125	CLIP-seq
MIRT2427410	hsa-miR-3163	CLIP-seq
MIRT1546549	hsa-miR-3171	CLIP-seq
MIRT2427411	hsa-miR-323b-5p	CLIP-seq
MIRT2427412	hsa-miR-3617	CLIP-seq
MIRT1546551	hsa-miR-3674	CLIP-seq
MIRT1546593	hsa-miR-3713	CLIP-seq
MIRT1546552	hsa-miR-3714	CLIP-seq
MIRT2427413	hsa-miR-376a	CLIP-seq
MIRT2427414	hsa-miR-376b	CLIP-seq
MIRT1546553	hsa-miR-3910	CLIP-seq
MIRT1546555	hsa-miR-3916	CLIP-seq
MIRT1546556	hsa-miR-3925-3p	CLIP-seq
MIRT2427415	hsa-miR-3942-3p	CLIP-seq
MIRT2203479	hsa-miR-424	CLIP-seq
MIRT2427416	hsa-miR-4307	CLIP-seq
MIRT2427417	hsa-miR-431	CLIP-seq
MIRT1546559	hsa-miR-4311	CLIP-seq
MIRT2427418	hsa-miR-4464	CLIP-seq
MIRT2427419	hsa-miR-4477b	CLIP-seq
MIRT1546597	hsa-miR-4637	CLIP-seq
MIRT2427420	hsa-miR-4653-3p	CLIP-seq
MIRT2427421	hsa-miR-4694-5p	CLIP-seq
MIRT2203494	hsa-miR-4699-3p	CLIP-seq
MIRT1546563	hsa-miR-4707-5p	CLIP-seq
MIRT2427422	hsa-miR-4720-3p	CLIP-seq
MIRT2203496	hsa-miR-4729	CLIP-seq
MIRT2427423	hsa-miR-4748	CLIP-seq
MIRT1546566	hsa-miR-4753-3p	CLIP-seq
MIRT902461	hsa-miR-4756-3p	CLIP-seq
MIRT1546567	hsa-miR-4768-5p	CLIP-seq
MIRT2203497	hsa-miR-4795-3p	CLIP-seq
MIRT2427424	hsa-miR-4802-3p	CLIP-seq
MIRT2203498	hsa-miR-497	CLIP-seq
MIRT902462	hsa-miR-506	CLIP-seq
MIRT1546571	hsa-miR-508-5p	CLIP-seq
MIRT2427425	hsa-miR-518a-5p	CLIP-seq
MIRT2427426	hsa-miR-527	CLIP-seq
MIRT902463	hsa-miR-545	CLIP-seq
MIRT2427427	hsa-miR-577	CLIP-seq
MIRT1546573	hsa-miR-583	CLIP-seq
MIRT1546575	hsa-miR-590-5p	CLIP-seq
MIRT2427428	hsa-miR-606	CLIP-seq
MIRT2427429	hsa-miR-641	CLIP-seq
MIRT2427430	hsa-miR-944	CLIP-seq
MIRT2203459	hsa-miR-1297	CLIP-seq
MIRT2203466	hsa-miR-26a	CLIP-seq
MIRT2203467	hsa-miR-26b	CLIP-seq
MIRT902465	hsa-miR-3140-3p	CLIP-seq
MIRT2203484	hsa-miR-4465	CLIP-seq
MIRT1546543	hsa-miR-183	CLIP-seq
MIRT2678386	hsa-miR-3179	CLIP-seq
MIRT2678387	hsa-miR-4269	CLIP-seq
MIRT2678388	hsa-miR-4514	CLIP-seq
MIRT2678389	hsa-miR-4692	CLIP-seq
MIRT2678390	hsa-miR-4736	CLIP-seq
MIRT2678391	hsa-miR-4742-5p	CLIP-seq
MIRT2678392	hsa-miR-4747-3p	CLIP-seq
MIRT902463	hsa-miR-545	CLIP-seq
MIRT2678393	hsa-miR-760	CLIP-seq
MIRT2678394	hsa-miR-940	CLIP-seq

Show/Hide all (20)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005576	Component	Extracellular region	HDA	27068509
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005581	Component	Collagen trimer	IEA
GO:0005595	Component	Collagen type XII trimer	NAS	1427837
GO:0005595	Component	Collagen type XII trimer	TAS
GO:0005615	Component	Extracellular space	HDA	20551380
GO:0005788	Component	Endoplasmic reticulum lumen	IEA
GO:0005788	Component	Endoplasmic reticulum lumen	TAS
GO:0007155	Process	Cell adhesion	IEA
GO:0009888	Process	Tissue development	IEA
GO:0030020	Function	Extracellular matrix structural constituent conferring tensile strength	NAS	1427837
GO:0030020	Function	Extracellular matrix structural constituent conferring tensile strength	RCA	20551380, 23979707, 25037231, 28327460, 28675934
GO:0030199	Process	Collagen fibril organization	NAS	1427837
GO:0031012	Component	Extracellular matrix	HDA	20551380
GO:0031012	Component	Extracellular matrix	HDA	23658023, 23979707, 25037231, 28327460, 28675934
GO:0035987	Process	Endodermal cell differentiation	IBA
GO:0035987	Process	Endodermal cell differentiation	IEP	23154389
GO:0070062	Component	Extracellular exosome	HDA	21362503
GO:1903561	Component	Extracellular vesicle	HDA	24769233

MIM	HGNC	e!Ensembl
120320	2188	ENSG00000111799

Q99715

Protein name

Collagen alpha-1(XII) chain

Protein function

Type XII collagen interacts with type I collagen-containing fibrils, the COL1 domain could be associated with the surface of the fibrils, and the COL2 and NC3 domains may be localized in the perifibrillar matrix.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00041	fn3	26 → 105	Fibronectin type III domain	Domain
PF00092	VWA	140 → 311	von Willebrand factor type A domain	Domain
PF00041	fn3	335 → 416	Fibronectin type III domain	Domain
PF00092	VWA	440 → 611	von Willebrand factor type A domain	Domain
PF00041	fn3	633 → 712	Fibronectin type III domain	Domain
PF00041	fn3	724 → 801	Fibronectin type III domain	Domain
PF00041	fn3	815 → 894	Fibronectin type III domain	Domain
PF00041	fn3	906 → 986	Fibronectin type III domain	Domain
PF00041	fn3	999 → 1077	Fibronectin type III domain	Domain
PF00041	fn3	1088 → 1168	Fibronectin type III domain	Domain
PF00092	VWA	1199 → 1370	von Willebrand factor type A domain	Domain
PF00041	fn3	1386 → 1465	Fibronectin type III domain	Domain
PF00041	fn3	1475 → 1556	Fibronectin type III domain	Domain
PF00041	fn3	1567 → 1646	Fibronectin type III domain	Domain
PF00041	fn3	1656 → 1734	Fibronectin type III domain	Domain
PF00041	fn3	1754 → 1835	Fibronectin type III domain	Domain
PF00041	fn3	1845 → 1926	Fibronectin type III domain	Domain
PF00041	fn3	1937 → 2016	Fibronectin type III domain	Domain
PF00041	fn3	2026 → 2108	Fibronectin type III domain	Domain
PF00041	fn3	2117 → 2195	Fibronectin type III domain	Domain
PF00041	fn3	2205 → 2283	Fibronectin type III domain	Domain
PF00092	VWA	2323 → 2495	von Willebrand factor type A domain	Domain
PF01391	Collagen	2745 → 2802	Collagen triple helix repeat (20 copies)	Repeat
PF01391	Collagen	2800 → 2853	Collagen triple helix repeat (20 copies)	Repeat
PF01391	Collagen	2844 → 2902	Collagen triple helix repeat (20 copies)	Repeat
PF01391	Collagen	2937 → 2994	Collagen triple helix repeat (20 copies)	Repeat

Tissue specificity

TISSUE SPECIFICITY: Found in collagen I-containing tissues: both isoform 1 and isoform 2 appear in amnion, chorion, skeletal muscle, small intestine, and in cell culture of dermal fibroblasts, keratinocytes and endothelial cells. Only isoform 2 is found i

Sequence

MRSRLPPALAALGAALLLSSIEAEVDPPSDLNFKIIDENTVHMSWAKPVDPIVGYRITVD
PTTDGPTKEFTLSASTTETLLSELVPETEYVVTITSYDEVEESVPVIGQLTIQTGSSTKP
VEKKPGKTEIQKCSVSAWTDLVFLVDGSWSVGRNNFKYILDFIAALVSAFDIGEEKTRVG
VVQYSSDTRTEFNLNQYYQRDELLAAIKKIPYKGGNTMTGDAIDYLVKNTFTESAGARVG
FPKVAIIITDGKSQDEVEIPARELRNVGVEVFSLGIKAADAKELKQIASTPSLNHVFNVA
NFDAIVDIQNEIISQVCSGVDEQLGELVSGEEVVEPPSNLIAMEVSSKYVKLNWNPSPSP
VTGYKVILTPMTAGSRQHALSVGPQTTTLSVRDLSADTEYQISVSAMKGMTSSEPISIME
KTQPMKVQVECSRGVDIKADIVFLVDGSYSIGIANFVKVRAFLEVLVKSFEISPNRVQIS
LVQYSRDPHTEFTLKKFTKVEDIIEAINTFPYRGGSTNTGKAMTYVREKIFVPSKGSRSN
VPKVMILITDGKSSDAFRDPAIKLRNSDVEIFAVGVKDAVRSELEAIASPPAETHVFTVE
DFDAFQRISFELTQSICLRIEQELAAIKKKAYVPPKDLSFSEVTSYGFKTNWSPAGENVF
SYHITYKEAAGDDEVTVVEPASSTSVVLSSLKPETLYLVNVTAEYEDGFSIPLAGEETTE
EVKGAPRNLKVTDETTDSFKITWTQAPGRVLRYRIIYRPVAGGESREVTTPPNQRRRTLE
NLIPDTKYEVSVIPEYFSGPGTPLTGNAATEEVRGNPRDLRVSDPTTSTMKLSWSGAPGK
VKQYLVTYTPVAGGETQEVTVRGDTTNTVLQGLKEGTQYALSVTALYASGAGDALFGEGT
TLEERGSPQDLVTKDITDTSIGAYWTSAPGMVRGYRVSWKSLYDDVDTGEKNLPEDAIHT
MIENLQPETKYRISVFATYSSGEGEPLTGDATTELSQDSKTLKVDEETENTMRVTWKPAP
GKVVNYRVVYRPHGRGKQMVAKVPPTVTSTVLKRLQPQTTYDITVLPIYKMGEGKLRQGS
GTTASRFKSPRNLKTSDPTMSSFRVTWEPAPGEVKGYKVTFHPTGDDRRLGELVVGPYDN
TVVLEELRAGTTYKVNVFGMFDGGESSPLVGQEMTTLSDTTVMPILSSGMECLTRAEADI
VLLVDGSWSIGRANFRTVRSFISRIVEVFDIGPKRVQIALAQYSGDPRTEWQLNAHRDKK
SLLQAVANLPYKGGNTLTGMALNFIRQQNFRTQAGMRPRARKIGVLITDGKSQDDVEAPS
KKLKDEGVELFAIGIKNADEVELKMIATDPDDTHAYNVADFESLSRIVDDLTINLCNSVK
GPGDLEAPSNLVISERTHRSFRVSWTPPSDSVDRYKVEYYPVSGGKRQEFYVSRMETSTV
LKDLKPETEYVVNVYSVVEDEYSEPLKGTEKTLPVPVVSLNIYDVGPTTMHVQWQPVGGA
TGYILSYKPVKDTEPTRPKEVRLGPTVNDMQLTDLVPNTEYAVTVQAVLHDLTSEPVTVR
EVTLPLPRPQDLKLRDVTHSTMNVFWEPVPGKVRKYIVRYKTPEEDVKEVEVDRSETSTS
LKDLFSQTLYTVSVSAVHDEGESPPVTAQETTRPVPAPTNLKITEVTSEGFRGTWDHGAS
DVSLYRITWAPFGSSDKMETILNGDENTLVFENLNPNTIYEVSITAIYPDESESDDLIGS
ERTLPILTTQAPKSGPRNLQVYNATSNSLTVKWDPASGRVQKYRITYQPSTGEGNEQTTT
IGGRQNSVVLQKLKPDTPYTITVSSLYPDGEGGRMTGRGKTKPLNTVRNLRVYDPSTSTL
NVRWDHAEGNPRQYKLFYAPAAGGPEELVPIPGNTNYAILRNLQPDTSYTVTVVPVYTEG
DGGRTSDTGRTLMRGLARNVQVYNPTPNSLDVRWDPAPGPVLQYRVVYSPVDGTRPSESI
VVPGNTRMVHLERLIPDTLYSVNLVALYSDGEGNPSPAQGRTLPRSGPRNLRVFGETTNS
LSVAWDHADGPVQQYRIIYSPTVGDPIDEYTTVPGRRNNVILQPLQPDTPYKITVIAVYE
DGDGGHLTGNGRTVGLLPPQNIHISDEWYTRFRVSWDPSPSPVLGYKIVYKPVGSNEPME
AFVGEMTSYTLHNLNPSTTYDVNVYAQYDSGLSVPLTDQGTTLYLNVTDLKTYQIGWDTF
CVKWSPHRAATSYRLKLSPADGTRGQEITVRGSETSHCFTGLSPDTDYGVTVFVQTPNLE
GPGVSVKEHTTVKPTEAPTEPPTPPPPPTIPPARDVCKGAKADIVFLTDASWSIGDDNFN
KVVKFIFNTVGGFDEISPAGIQVSFVQYSDEVKSEFKLNTYNDKALALGALQNIRYRGGN
TRTGKALTFIKEKVLTWESGMRKNVPKVLVVVTDGRSQDEVKKAALVIQQSGFSVFVVGV
ADVDYNELANIASKPSERHVFIVDDFESFEKIEDNLITFVCETATSSCPLIYLDGYTSPG
FKMLEAYNLTEKNFASVQGVSLESGSFPSYSAYRIQKNAFVNQPTADLHPNGLPPSYTII
LLFRLLPETPSDPFAIWQITDRDYKPQVGVIADPSSKTLSFFNKDTRGEVQTVTFDTEEV
KTLFYGSFHKVHIVVTSKSVKIYIDCYEIIEKDIKEAGNITTDGYEILGKLLKGERKSAA
FQIQSFDIVCSPVWTSRDRCCDIPSRRDEGKCPAFPNSCTCTQDSVGPPGPPGPAGGPGA
KGPRGERGISGAIGPPGPRGDIGPPGPQGPPGPQGPNGLSIPGEQGRQGMKGDAGEPGLP
GRTGTPGLPGPPGPMGPPGDRGFTGKDGAMGPRGPPGPPGSPGSPGVTGPSGKPGKPGDH
GRPGPSGLKGEKGDRGDIASQNMMRAVARQVCEQLISGQMNRFNQMLNQIPNDYQSSRNQ
PGPPGPPGPPGSAGARGEPGPGGRPGFPGTPGMQGPPGERGLPGEKGERGTGSSGPRGLP
GPPGPQGESRTGPPGSTGSRGPPGPPGRPGNSGIRGPPGPPGYCDSSQCASIPYNGQGYP
GSG

Sequence length

3063

Interactions

View interactions

	KEGG		Reactome
	Protein digestion and absorption		Collagen degradation Collagen biosynthesis and modifying enzymes Assembly of collagen fibrils and other multimeric structures Collagen chain trimerization

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (8)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Abnormality of connective tissue	Likely pathogenic	rs1582025807	RCV000850300	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Bethlem myopathy 2	Likely pathogenic; Pathogenic	rs2149352927, rs2149372690, rs2149337320, rs2149369481, rs1266090046, rs2149347624, rs984784417, rs2149373593, rs2149344192, rs2149492561, rs1765881602, rs1766437216, rs2149349312, rs1766404539, rs1178118885 View all (59 more)	RCV001372379 RCV001378005 RCV001381736 RCV001382528 RCV005225442 View all (70 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
COL12A1-related disorder	Likely pathogenic; Pathogenic	rs2533398364, rs1064796670	RCV003399561 RCV003915338	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Global developmental delay	Likely pathogenic	rs1554168326	RCV001526658	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental disorder	Likely pathogenic	rs2149322991	RCV002277697	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ovarian serous cystadenocarcinoma	Likely pathogenic	rs1768495540	RCV005912536	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ullrich congenital muscular dystrophy 1A	Likely pathogenic	rs1768416586	RCV001535747	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ullrich congenital muscular dystrophy 2	Likely pathogenic; Pathogenic	rs2149352927, rs2149372690, rs2149337320, rs2149369481, rs1266090046, rs2149347624, rs984784417, rs2149373593, rs2149344192, rs2149492561, rs1765881602, rs1766437216, rs2149349312, rs779921465, rs875989819 View all (56 more)	RCV001372379 RCV001378005 RCV001381736 RCV001382528 RCV005225442 View all (68 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (42)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Adrenocortical carcinoma, hereditary	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALZHEIMER DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTHMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bartter disease type 4B	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BETHLEM MUSCULAR DYSTROPHY	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bethlem myopathy	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar CTD, GWAS catalog CTD, GWAS catalog	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
BETHLEM MYOPATHY 1	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cataract 16 multiple types	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CATARACT 16, MULTIPLE TYPE S	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CENTRAL NERVOUS SYSTEM CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign; Likely benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Charcot-Marie-Tooth disease type 2	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEMENTIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ehlers-Danlos syndrome	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar CTD	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
EMG abnormality	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EMG: myotonic runs	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ENDOMETRIOSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Likely benign; Benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial prostate cancer	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign; Likely benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOBLASTOMA MULTIFORME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEREDITARY MOTOR AND SENSORY-NEUROPATHY TYPE II	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KERATOCONUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, EXPERIMENTAL	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MELANOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MESOTHELIOMA, MALIGNANT	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myopathic Ehlers-Danlos syndrome	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OROFACIAL CLEFT	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian cancer	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Squamous cell carcinoma of the head and neck	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TREATMENT-RESISTANT HYPERTENSION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ullrich congenital muscular dystrophy	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Uterine carcinosarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Likely benign; Benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (74)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Acquired Kyphoscoliosis	Acquired Kyphoscoliosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Alzheimer`s Disease	Alzheimer disease	GWASCAT_DG	26830138		★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	26191188	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Bethlem myopathy	Bethlem Myopathy	Orphanet			★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Bethlem myopathy	Bethlem myopathy	Pubtator	27348394, 31273343	Associate	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
BETHLEM MYOPATHY 1	Bethlem Myopathy	GENOMICS_ENGLAND_DG	24334604		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BETHLEM MYOPATHY 1	Bethlem Myopathy	ORPHANET_DG	24334604, 24334769		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BETHLEM MYOPATHY 1	Bethlem Myopathy	BEFREE	29342313		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BETHLEM MYOPATHY 1	Bethlem Myopathy	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BETHLEM MYOPATHY 2	Bethlem Myopathy	CLINVAR_DG	24334604, 24334769, 27159402, 27348394		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
BETHLEM MYOPATHY 2	Bethlem Myopathy	UNIPROT_DG	24334604, 24334769		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
BETHLEM MYOPATHY 2	Bethlem Myopathy	GENOMICS_ENGLAND_DG	27348394		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Bone Neoplasms	Bone neoplasm	Pubtator	19648885	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	23939832		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	23939832, 38235137	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	34007003	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	36694230	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Chondromyxoid fibroma	Chondromyxoid Fibroma	BEFREE	19648885		★★★★★ ★☆☆☆☆ Found in Text Mining only
Clumsiness - motor delay	Motor delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	21061036		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	31808724		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	22408128	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	26208990, 32323816, 32356618	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital kyphoscoliosis	Congenital kyphoscoliosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital muscular dystrophy (disorder)	Congenital muscular dystrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital muscular dystrophy, Ullrich type	Congenital muscular dystrophy	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital myopathy (disorder)	Congenital myopathy	BEFREE	27348394		★★★★★ ★☆☆☆☆ Found in Text Mining only
Connective Tissue Diseases	Connective tissue disease	Pubtator	27348394	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Distal Myopathies	Distal myopathy	Pubtator	31509352	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ehlers-Danlos Syndrome	Ehlers-Danlos Syndrome	BEFREE	31273343		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Endometriosis	Endometriosis	GWASCAT_DG	28881265		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Esotropia	Esotropia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Exanthema	Exanthema	Pubtator	27272151	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Facial paralysis	Facial paralysis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Flexion contracture - elbow	Elbow flexion contracture	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Generalized amyotrophy	Amyotrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Graves Ophthalmopathy	Graves ophthalmopathy	Pubtator	34078122	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Neoplasms	Kidney neoplasm	Pubtator	27802793	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	26517539		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	Pubtator	21088137	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant mesothelioma	Malignant Mesothelioma	CTD_human_DG	25756049		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	23939832		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	29126163		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	31746380		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	30106150, 31315643, 31432110		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	31432110		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	21061036		★★★★★ ★☆☆☆☆ Found in Text Mining only
MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME	Microcephaly, Epilepsy, And Diabetes Syndrome	GENOMICS_ENGLAND_DG	27348394		★★★★★ ★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy	Muscular dystrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Myopathic Ehlers-Danlos syndrome	Myopathic Ehlers-Danlos Syndrome	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myopathy	Myopathy	BEFREE	24334604, 24334769, 31273343, 31509352		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Myotonia Congenita	Myotonia congenita	Pubtator	27348394	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neonatal Hypotonia	Hypotonia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	31432110		★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	25701361		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	34517516, 35879877, 37506150	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Phrynoderma	Phrynoderma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	31746380		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	31746380	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Proximal amyotrophy	Amyotrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Respiratory Failure	Respiratory Failure	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	26191188		★★★★★ ★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	30106150, 31315643, 31432110		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	30106150, 32293980, 35328635, 37312060, 37800754	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	31432110, 33381592, 36447214	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ullrich congenital muscular dystrophy 1	Ullrich Congenital Muscular Dystrophy	ORPHANET_DG	24334604		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ullrich congenital muscular dystrophy 1	Ullrich Congenital Muscular Dystrophy	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
ULLRICH CONGENITAL MUSCULAR DYSTROPHY 2	Ullrich Congenital Muscular Dystrophy	GENOMICS_ENGLAND_DG	24334604, 27348394		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
ULLRICH CONGENITAL MUSCULAR DYSTROPHY 2	Ullrich Congenital Muscular Dystrophy	CLINVAR_DG	24334604, 24334769, 27159402, 27348394		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	36683048	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

COL12A1 (collagen type XII alpha 1 chain)