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

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	7373
Gene name	Collagen type XIV alpha 1 chain
Gene symbol	COL14A1
Synonyms (NCBI Gene)	UND
Chromosome	8
Chromosome location	8q24.12
Summary	This gene encodes the alpha chain of type XIV collagen, a member of the FACIT (fibril-associated collagens with interrupted triple helices) collagen family. Type XIV collagen interacts with the fibril surface and is involved in the regulation of fibrillog

225

Show/Hide all (225)

miRTarBase ID	miRNA	Experiments	Reference
MIRT043103	hsa-miR-324-5p	CLASH	23622248
MIRT714553	hsa-miR-548an	HITS-CLIP	19536157
MIRT714552	hsa-miR-6801-3p	HITS-CLIP	19536157
MIRT714551	hsa-miR-6810-3p	HITS-CLIP	19536157
MIRT714550	hsa-miR-7108-3p	HITS-CLIP	19536157
MIRT714549	hsa-miR-6752-3p	HITS-CLIP	19536157
MIRT714548	hsa-miR-1913	HITS-CLIP	19536157
MIRT714547	hsa-miR-324-3p	HITS-CLIP	19536157
MIRT714546	hsa-miR-5699-5p	HITS-CLIP	19536157
MIRT714545	hsa-miR-4758-3p	HITS-CLIP	19536157
MIRT714544	hsa-miR-3189-5p	HITS-CLIP	19536157
MIRT714543	hsa-miR-210-5p	HITS-CLIP	19536157
MIRT714553	hsa-miR-548an	HITS-CLIP	19536157
MIRT714552	hsa-miR-6801-3p	HITS-CLIP	19536157
MIRT714551	hsa-miR-6810-3p	HITS-CLIP	19536157
MIRT714550	hsa-miR-7108-3p	HITS-CLIP	19536157
MIRT714549	hsa-miR-6752-3p	HITS-CLIP	19536157
MIRT714548	hsa-miR-1913	HITS-CLIP	19536157
MIRT714547	hsa-miR-324-3p	HITS-CLIP	19536157
MIRT714546	hsa-miR-5699-5p	HITS-CLIP	19536157
MIRT714545	hsa-miR-4758-3p	HITS-CLIP	19536157
MIRT714544	hsa-miR-3189-5p	HITS-CLIP	19536157
MIRT714543	hsa-miR-210-5p	HITS-CLIP	19536157
MIRT902469	hsa-let-7a	CLIP-seq
MIRT902470	hsa-let-7b	CLIP-seq
MIRT902471	hsa-let-7c	CLIP-seq
MIRT902472	hsa-let-7d	CLIP-seq
MIRT902473	hsa-let-7e	CLIP-seq
MIRT902474	hsa-let-7f	CLIP-seq
MIRT902475	hsa-let-7g	CLIP-seq
MIRT902476	hsa-let-7i	CLIP-seq
MIRT902477	hsa-miR-1225-3p	CLIP-seq
MIRT902478	hsa-miR-1233	CLIP-seq
MIRT902479	hsa-miR-1253	CLIP-seq
MIRT902480	hsa-miR-154	CLIP-seq
MIRT902481	hsa-miR-196a	CLIP-seq
MIRT902482	hsa-miR-196b	CLIP-seq
MIRT902483	hsa-miR-203	CLIP-seq
MIRT902484	hsa-miR-3117-3p	CLIP-seq
MIRT902485	hsa-miR-3143	CLIP-seq
MIRT902486	hsa-miR-3150b-3p	CLIP-seq
MIRT902487	hsa-miR-3169	CLIP-seq
MIRT902488	hsa-miR-3173-3p	CLIP-seq
MIRT902489	hsa-miR-3173-5p	CLIP-seq
MIRT902490	hsa-miR-3180-5p	CLIP-seq
MIRT902491	hsa-miR-361-5p	CLIP-seq
MIRT902492	hsa-miR-3929	CLIP-seq
MIRT902493	hsa-miR-4275	CLIP-seq
MIRT902494	hsa-miR-4419b	CLIP-seq
MIRT902495	hsa-miR-4446-5p	CLIP-seq
MIRT902496	hsa-miR-4458	CLIP-seq
MIRT902497	hsa-miR-4478	CLIP-seq
MIRT902498	hsa-miR-4500	CLIP-seq
MIRT902499	hsa-miR-4699-5p	CLIP-seq
MIRT902500	hsa-miR-4759	CLIP-seq
MIRT902501	hsa-miR-4784	CLIP-seq
MIRT902502	hsa-miR-520a-5p	CLIP-seq
MIRT902503	hsa-miR-525-5p	CLIP-seq
MIRT902504	hsa-miR-543	CLIP-seq
MIRT902505	hsa-miR-545	CLIP-seq
MIRT902506	hsa-miR-765	CLIP-seq
MIRT902507	hsa-miR-98	CLIP-seq
MIRT1546616	hsa-miR-1245	CLIP-seq
MIRT902485	hsa-miR-3143	CLIP-seq
MIRT902486	hsa-miR-3150b-3p	CLIP-seq
MIRT902488	hsa-miR-3173-3p	CLIP-seq
MIRT1546617	hsa-miR-4330	CLIP-seq
MIRT1546618	hsa-miR-4695-3p	CLIP-seq
MIRT902501	hsa-miR-4784	CLIP-seq
MIRT902504	hsa-miR-543	CLIP-seq
MIRT1546619	hsa-miR-571	CLIP-seq
MIRT1546620	hsa-miR-759	CLIP-seq
MIRT902506	hsa-miR-765	CLIP-seq
MIRT1921183	hsa-miR-3935	CLIP-seq
MIRT1921184	hsa-miR-3973	CLIP-seq
MIRT1921185	hsa-miR-520d-5p	CLIP-seq
MIRT1921186	hsa-miR-524-5p	CLIP-seq
MIRT1921187	hsa-miR-548a-5p	CLIP-seq
MIRT1921188	hsa-miR-548ab	CLIP-seq
MIRT1921189	hsa-miR-548ak	CLIP-seq
MIRT1921190	hsa-miR-548b-5p	CLIP-seq
MIRT1921191	hsa-miR-548c-5p	CLIP-seq
MIRT1921192	hsa-miR-548d-5p	CLIP-seq
MIRT1921193	hsa-miR-548h	CLIP-seq
MIRT1921194	hsa-miR-548i	CLIP-seq
MIRT1921195	hsa-miR-548j	CLIP-seq
MIRT1921196	hsa-miR-548w	CLIP-seq
MIRT1921197	hsa-miR-548y	CLIP-seq
MIRT1921198	hsa-miR-559	CLIP-seq
MIRT1921199	hsa-miR-577	CLIP-seq
MIRT902477	hsa-miR-1225-3p	CLIP-seq
MIRT902478	hsa-miR-1233	CLIP-seq
MIRT902483	hsa-miR-203	CLIP-seq
MIRT902485	hsa-miR-3143	CLIP-seq
MIRT902486	hsa-miR-3150b-3p	CLIP-seq
MIRT902488	hsa-miR-3173-3p	CLIP-seq
MIRT902489	hsa-miR-3173-5p	CLIP-seq
MIRT902492	hsa-miR-3929	CLIP-seq
MIRT902494	hsa-miR-4419b	CLIP-seq
MIRT902497	hsa-miR-4478	CLIP-seq
MIRT902501	hsa-miR-4784	CLIP-seq
MIRT902504	hsa-miR-543	CLIP-seq
MIRT902506	hsa-miR-765	CLIP-seq
MIRT902477	hsa-miR-1225-3p	CLIP-seq
MIRT902478	hsa-miR-1233	CLIP-seq
MIRT902483	hsa-miR-203	CLIP-seq
MIRT902485	hsa-miR-3143	CLIP-seq
MIRT902486	hsa-miR-3150b-3p	CLIP-seq
MIRT902488	hsa-miR-3173-3p	CLIP-seq
MIRT902489	hsa-miR-3173-5p	CLIP-seq
MIRT2203515	hsa-miR-371-5p	CLIP-seq
MIRT2203516	hsa-miR-371b-5p	CLIP-seq
MIRT902492	hsa-miR-3929	CLIP-seq
MIRT902494	hsa-miR-4419b	CLIP-seq
MIRT902497	hsa-miR-4478	CLIP-seq
MIRT902501	hsa-miR-4784	CLIP-seq
MIRT2203517	hsa-miR-513c	CLIP-seq
MIRT2203518	hsa-miR-514b-5p	CLIP-seq
MIRT902504	hsa-miR-543	CLIP-seq
MIRT902506	hsa-miR-765	CLIP-seq
MIRT902485	hsa-miR-3143	CLIP-seq
MIRT902486	hsa-miR-3150b-3p	CLIP-seq
MIRT902488	hsa-miR-3173-3p	CLIP-seq
MIRT902501	hsa-miR-4784	CLIP-seq
MIRT902504	hsa-miR-543	CLIP-seq
MIRT902506	hsa-miR-765	CLIP-seq
MIRT902469	hsa-let-7a	CLIP-seq
MIRT902470	hsa-let-7b	CLIP-seq
MIRT902471	hsa-let-7c	CLIP-seq
MIRT902472	hsa-let-7d	CLIP-seq
MIRT902473	hsa-let-7e	CLIP-seq
MIRT902474	hsa-let-7f	CLIP-seq
MIRT902475	hsa-let-7g	CLIP-seq
MIRT902476	hsa-let-7i	CLIP-seq
MIRT1546616	hsa-miR-1245	CLIP-seq
MIRT902481	hsa-miR-196a	CLIP-seq
MIRT902482	hsa-miR-196b	CLIP-seq
MIRT2506468	hsa-miR-204	CLIP-seq
MIRT2506469	hsa-miR-211	CLIP-seq
MIRT2506470	hsa-miR-3074-5p	CLIP-seq
MIRT2506471	hsa-miR-323b-3p	CLIP-seq
MIRT902491	hsa-miR-361-5p	CLIP-seq
MIRT2506472	hsa-miR-370	CLIP-seq
MIRT2203515	hsa-miR-371-5p	CLIP-seq
MIRT902493	hsa-miR-4275	CLIP-seq
MIRT1546617	hsa-miR-4330	CLIP-seq
MIRT902495	hsa-miR-4446-5p	CLIP-seq
MIRT2506473	hsa-miR-4452	CLIP-seq
MIRT902496	hsa-miR-4458	CLIP-seq
MIRT902498	hsa-miR-4500	CLIP-seq
MIRT2506474	hsa-miR-4520a-3p	CLIP-seq
MIRT2506475	hsa-miR-4520b-3p	CLIP-seq
MIRT2506476	hsa-miR-4646-3p	CLIP-seq
MIRT1546618	hsa-miR-4695-3p	CLIP-seq
MIRT2506477	hsa-miR-4755-5p	CLIP-seq
MIRT2506478	hsa-miR-515-5p	CLIP-seq
MIRT902505	hsa-miR-545	CLIP-seq
MIRT2506479	hsa-miR-548ae	CLIP-seq
MIRT2506480	hsa-miR-548aj	CLIP-seq
MIRT2506481	hsa-miR-548am	CLIP-seq
MIRT2506482	hsa-miR-548x	CLIP-seq
MIRT1546619	hsa-miR-571	CLIP-seq
MIRT2506483	hsa-miR-642a	CLIP-seq
MIRT1546620	hsa-miR-759	CLIP-seq
MIRT2506484	hsa-miR-935	CLIP-seq
MIRT902507	hsa-miR-98	CLIP-seq
MIRT902469	hsa-let-7a	CLIP-seq
MIRT902470	hsa-let-7b	CLIP-seq
MIRT902471	hsa-let-7c	CLIP-seq
MIRT902472	hsa-let-7d	CLIP-seq
MIRT902473	hsa-let-7e	CLIP-seq
MIRT902474	hsa-let-7f	CLIP-seq
MIRT902475	hsa-let-7g	CLIP-seq
MIRT902476	hsa-let-7i	CLIP-seq
MIRT2678395	hsa-miR-105	CLIP-seq
MIRT2678396	hsa-miR-1206	CLIP-seq
MIRT1546616	hsa-miR-1245	CLIP-seq
MIRT902479	hsa-miR-1253	CLIP-seq
MIRT2678397	hsa-miR-1261	CLIP-seq
MIRT902480	hsa-miR-154	CLIP-seq
MIRT902481	hsa-miR-196a	CLIP-seq
MIRT902482	hsa-miR-196b	CLIP-seq
MIRT2506468	hsa-miR-204	CLIP-seq
MIRT2506469	hsa-miR-211	CLIP-seq
MIRT2506470	hsa-miR-3074-5p	CLIP-seq
MIRT902484	hsa-miR-3117-3p	CLIP-seq
MIRT2678398	hsa-miR-3120-3p	CLIP-seq
MIRT902487	hsa-miR-3169	CLIP-seq
MIRT902490	hsa-miR-3180-5p	CLIP-seq
MIRT2506471	hsa-miR-323b-3p	CLIP-seq
MIRT902491	hsa-miR-361-5p	CLIP-seq
MIRT2678399	hsa-miR-3685	CLIP-seq
MIRT2506472	hsa-miR-370	CLIP-seq
MIRT2203515	hsa-miR-371-5p	CLIP-seq
MIRT2678400	hsa-miR-375	CLIP-seq
MIRT902493	hsa-miR-4275	CLIP-seq
MIRT1546617	hsa-miR-4330	CLIP-seq
MIRT902495	hsa-miR-4446-5p	CLIP-seq
MIRT2506473	hsa-miR-4452	CLIP-seq
MIRT902496	hsa-miR-4458	CLIP-seq
MIRT902498	hsa-miR-4500	CLIP-seq
MIRT2506474	hsa-miR-4520a-3p	CLIP-seq
MIRT2506475	hsa-miR-4520b-3p	CLIP-seq
MIRT2506476	hsa-miR-4646-3p	CLIP-seq
MIRT1546618	hsa-miR-4695-3p	CLIP-seq
MIRT902499	hsa-miR-4699-5p	CLIP-seq
MIRT2678401	hsa-miR-4728-3p	CLIP-seq
MIRT2506477	hsa-miR-4755-5p	CLIP-seq
MIRT902500	hsa-miR-4759	CLIP-seq
MIRT2506478	hsa-miR-515-5p	CLIP-seq
MIRT902502	hsa-miR-520a-5p	CLIP-seq
MIRT902503	hsa-miR-525-5p	CLIP-seq
MIRT902505	hsa-miR-545	CLIP-seq
MIRT2506479	hsa-miR-548ae	CLIP-seq
MIRT2506480	hsa-miR-548aj	CLIP-seq
MIRT2506481	hsa-miR-548am	CLIP-seq
MIRT2506482	hsa-miR-548x	CLIP-seq
MIRT1546619	hsa-miR-571	CLIP-seq
MIRT2678402	hsa-miR-579	CLIP-seq
MIRT2678403	hsa-miR-605	CLIP-seq
MIRT2506483	hsa-miR-642a	CLIP-seq
MIRT2678404	hsa-miR-651	CLIP-seq
MIRT1546620	hsa-miR-759	CLIP-seq
MIRT2506484	hsa-miR-935	CLIP-seq
MIRT902507	hsa-miR-98	CLIP-seq

Show/Hide all (30)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003229	Process	Ventricular cardiac muscle tissue development	IEA
GO:0003723	Function	RNA binding	HDA	22658674
GO:0005201	Function	Extracellular matrix structural constituent	NAS	2187872, 9427527
GO:0005518	Function	Collagen binding	NAS	2187872
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:0005581	Component	Collagen trimer	NAS	9427527
GO:0005596	Component	Collagen type XIV trimer	NAS	9427527
GO:0005614	Component	Interstitial matrix	IBA
GO:0005614	Component	Interstitial matrix	IEA
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:0030020	Function	Extracellular matrix structural constituent conferring tensile strength	ISS
GO:0030020	Function	Extracellular matrix structural constituent conferring tensile strength	RCA	20551380, 25037231, 28327460, 28675934
GO:0030198	Process	Extracellular matrix organization	IBA
GO:0030198	Process	Extracellular matrix organization	NAS	9427527
GO:0030199	Process	Collagen fibril organization	IEA
GO:0030199	Process	Collagen fibril organization	NAS	2187872
GO:0030674	Function	Protein-macromolecule adaptor activity	NAS	9427527
GO:0031012	Component	Extracellular matrix	HDA	20551380
GO:0031012	Component	Extracellular matrix	HDA	25037231, 28327460, 28675934
GO:0031012	Component	Extracellular matrix	ISS	22261194
GO:0031012	Component	Extracellular matrix	NAS	2187872
GO:0048873	Process	Homeostasis of number of cells within a tissue	IEA
GO:0061050	Process	Regulation of cell growth involved in cardiac muscle cell development	IEA
GO:0098609	Process	Cell-cell adhesion	NAS	9427527

MIM	HGNC	e!Ensembl
120324	2191	ENSG00000187955

Q05707

Protein name

Collagen alpha-1(XIV) chain (Undulin)

Protein function

Plays an adhesive role by integrating collagen bundles. It is probably associated with the surface of interstitial collagen fibrils via COL1. The COL2 domain may then serve as a rigid arm which sticks out from the fibril and protrudes the large

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00041	fn3	31 → 111	Fibronectin type III domain	Domain
PF00092	VWA	158 → 329	von Willebrand factor type A domain	Domain
PF00041	fn3	354 → 433	Fibronectin type III domain	Domain
PF00041	fn3	444 → 525	Fibronectin type III domain	Domain
PF00041	fn3	536 → 614	Fibronectin type III domain	Domain
PF00041	fn3	625 → 704	Fibronectin type III domain	Domain
PF00041	fn3	737 → 819	Fibronectin type III domain	Domain
PF00041	fn3	830 → 910	Fibronectin type III domain	Domain
PF00041	fn3	921 → 998	Fibronectin type III domain	Domain
PF00092	VWA	1032 → 1204	von Willebrand factor type A domain	Domain
PF01391	Collagen	1460 → 1514	Collagen triple helix repeat (20 copies)	Repeat
PF01391	Collagen	1512 → 1570	Collagen triple helix repeat (20 copies)	Repeat
PF01391	Collagen	1554 → 1614	Collagen triple helix repeat (20 copies)	Repeat
PF01391	Collagen	1651 → 1707	Collagen triple helix repeat (20 copies)	Repeat

Sequence

MKIFQRKMRYWLLPPFLAIVYFCTIVQGQVAPPTRLRYNVISHDSIQISWKAPRGKFGGY
KLLVTPTSGGKTNQLNLQNTATKAIIQGLMPDQNYTVQIIAYNKDKESKPAQGQFRIKDL
EKRKDPKPRVKVVDRGNGSRPSSPEEVKFVCQTPAIADIVILVDGSWSIGRFNFRLVRHF
LENLVTAFDVGSEKTRIGLAQYSGDPRIEWHLNAFSTKDEVIEAVRNLPYKGGNTLTGLA
LNYIFENSFKPEAGSRTGVSKIGILITDGKSQDDIIPPSRNLRESGVELFAIGVKNADVN
ELQEIASEPDSTHVYNVAEFDLMHTVVESLTRTLCSRVEEQDREIKASAHAITGPPTELI
TSEVTARSFMVNWTHAPGNVEKYRVVYYPTRGGKPDEVVVDGTVSSTVLKNLMSLTEYQI
AVFAIYAHTASEGLRGTETTLALPMASDLLLYDVTENSMRVKWDAVPGASGYLILYAPLT
EGLAGDEKEMKIGETHTDIELSGLLPNTEYTVTVYAMFGEEASDPVTGQETTLALSPPRN
LRISNVGSNSARLTWDPTSRQINGYRIVYNNADGTEINEVEVDPITTFPLKGLTPLTEYT
IAIFSIYDEGQSEPLTGVFTTEEVPAQQYLEIDEVTTDSFRVTWHPLSADEGLHKLMWIP
VYGGKTEEVVLKEEQDSHVIEGLEPGTEYEVSLLAVLDDGSESEVVTAVGTTLDSFWTEP
ATTIVPTTSVTSVFQTGIRNLVVGDETTSSLRVKWDISDSDVQQFRVTYMTAQGDPEEEV
IGTVMVPGSQNNLLLKPLLPDTEYKVTVTPIYTDGEGVSVSAPGKTLPSSGPQNLRVSEE
WYNRLRITWDPPSSPVKGYRIVYKPVSVPGPTLETFVGADINTILITNLLSGMDYNVKIF
ASQASGFSDALTGMVKTLFLGVTNLQAKHVEMTSLCAHWQVHRHATAYRVVIESLQDRQK
QESTVGGGTTRHCFYGLQPDSEYKISVYTKLQEIEGPSVSIMEKTQSLPTRPPTFPPTIP
PAKEVCKAAKADLVFMVDGSWSIGDENFNKIISFLYSTVGALNKIGTDGTQVAMVQFTDD
PRTEFKLNAYKTKETLLDAIKHISYKGGNTKTGKAIKYVRDTLFTAESGTRRGIPKVIVV
ITDGRSQDDVNKISREMQLDGYSIFAIGVADADYSELVSIGSKPSARHVFFVDDFDAFKK
IEDELITFVCETASATCPVVHKDGIDLAGFKMMEMFGLVEKDFSSVEGVSMEPGTFNVFP
CYQLHKDALVSQPTRYLHPEGLPSDYTISFLFRILPDTPQEPFALWEILNKNSDPLVGVI
LDNGGKTLTYFNYDQSGDFQTVTFEGPEIRKIFYGSFHKLHIVVSETLVKVVIDCKQVGE
KAMNASANITSDGVEVLGKMVRSRGPGGNSAPFQLQMFDIVCSTSWANTDKCCELPGLRD
DESCPDLPHSCSCSETNEVALGPAGPPGGPGLRGPKGQQGEPGPKGPDGPRGEIGLPGPQ
GPPGPQGPSGLSIQGMPGMPGEKGEKGDTGLPGPQGIPGGVGSPGRDGSPGQRGLPGKDG
SSGPPGPPGPIGIPGTPGVPGITGSMGPQGALGPPGVPGAKGERGERGDLQSQAMVRSVA
RQVCEQLIQSHMARYTAILNQIPSHSSSIRTVQGPPGEPGRPGSPGAPGEQGPPGTPGFP
GNAGVPGTPGERGLTGIKGEKGNPGVGTQGPRGPPGPAGPSGESRPGSPGPPGSPGPRGP
PGHLGVPGPQGPSGQPGYCDPSSCSAYGVRAPHPDQPEFTPVQDELEAMELWGPGV

Sequence length

1796

Interactions

View interactions

	KEGG		Reactome
	Protein digestion and absorption		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 Unknown Diseases (20)

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.
Acute myeloid leukemia	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial pancreatic carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GASTRITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KERATOSIS PALMOPLANTARIS PAPULOSA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Variant of unknown significance	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (35)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Adenocarcinoma	Adenocarcinoma	BEFREE	8286197		★★★★★ ★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	32854783	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	GWASCAT_DG	29059683		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Carcinoma	Breast Carcinoma	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Neoplasms	Breast neoplasm	Pubtator	35296631	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	20154727	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	38188687	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	20154727		★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	25687463		★★★★★ ★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	20060954		★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	26522113		★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	26522113	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	25050929	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Familial Primary Pulmonary Hypertension	Pulmonary hypertension	Pubtator	25840998	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Gallbladder Neoplasms	Gallbladder neoplasm	Pubtator	40527859	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin Disease	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Keratoderma, Palmoplantar	Palmoplantar keratoderma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Keratosis palmoplantaris papulosa	Keratosis Palmoplantaris Papulosa	ORPHANET_DG	22972947		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	29781401	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	26522113		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Narcolepsy	Narcolepsy	GWASDB_DG	19629137		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	20154727		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	20060954	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	Pubtator	32999266	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	37024829	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasm	Pancreatic Neoplasm	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Pelvic Organ Prolapse	Pelvic Organ Prolapse	BEFREE	31663982		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pelvic Organ Prolapse	Pelvic organ prolapse	Pubtator	31663982	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Poikiloderma with Neutropenia	Poikiloderma With Neutropenia	BEFREE	25050929		★★★★★ ★☆☆☆☆ Found in Text Mining only
Polycystic Kidney, Autosomal Dominant	Polycystic kidney disease	BEFREE	7692313		★★★★★ ★☆☆☆☆ Found in Text Mining only
Punctate palmoplantar keratoderma type 1	Punctate Palmoplantar Keratoderma	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	20154727		★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Transitional cell carcinoma of bladder	Bladder carcinoma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only

COL14A1 (collagen type XIV alpha 1 chain)