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	8076
Gene name	Microfibril associated protein 5
Gene symbol	MFAP5
Synonyms (NCBI Gene)	AAT9MAGP-2MAGP2MFAP-5MP25
Chromosome	12
Chromosome location	12p13.31
Summary	This gene encodes a 25-kD microfibril-associated glycoprotein which is a component of microfibrils of the extracellular matrix. The encoded protein promotes attachment of cells to microfibrils via alpha-V-beta-3 integrin. Deficiency of this gene in mice r

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SNP ID	Visualize variation	Clinical significance	Consequence
rs724159961	C>A	Pathogenic	Coding sequence variant, missense variant, intron variant, non coding transcript variant
rs727502791	G>A	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs962247688	G>A	Likely-pathogenic	Non coding transcript variant, stop gained, intron variant, coding sequence variant

299

Show/Hide all (299)

miRTarBase ID	miRNA	Experiments	Reference
MIRT022336	hsa-miR-124-3p	Microarray	18668037
MIRT707345	hsa-miR-6507-5p	HITS-CLIP	21572407
MIRT707344	hsa-miR-1277-5p	HITS-CLIP	21572407
MIRT707343	hsa-miR-369-3p	HITS-CLIP	21572407
MIRT707342	hsa-miR-5692b	HITS-CLIP	21572407
MIRT707341	hsa-miR-5692c	HITS-CLIP	21572407
MIRT707340	hsa-miR-410-3p	HITS-CLIP	21572407
MIRT707339	hsa-miR-5011-5p	HITS-CLIP	21572407
MIRT707338	hsa-miR-374a-5p	HITS-CLIP	21572407
MIRT707337	hsa-miR-374b-5p	HITS-CLIP	21572407
MIRT707336	hsa-miR-190a-3p	HITS-CLIP	21572407
MIRT646425	hsa-miR-6840-3p	HITS-CLIP	23824327
MIRT646426	hsa-miR-1915-3p	HITS-CLIP	23824327
MIRT646424	hsa-miR-6764-5p	HITS-CLIP	23824327
MIRT646423	hsa-miR-4726-3p	HITS-CLIP	23824327
MIRT646422	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT646421	hsa-miR-6791-3p	HITS-CLIP	23824327
MIRT646420	hsa-miR-6829-3p	HITS-CLIP	23824327
MIRT646419	hsa-miR-5001-3p	HITS-CLIP	23824327
MIRT646418	hsa-miR-6836-3p	HITS-CLIP	23824327
MIRT707345	hsa-miR-6507-5p	HITS-CLIP	21572407
MIRT707344	hsa-miR-1277-5p	HITS-CLIP	21572407
MIRT707343	hsa-miR-369-3p	HITS-CLIP	21572407
MIRT707342	hsa-miR-5692b	HITS-CLIP	21572407
MIRT707341	hsa-miR-5692c	HITS-CLIP	21572407
MIRT707340	hsa-miR-410-3p	HITS-CLIP	21572407
MIRT707339	hsa-miR-5011-5p	HITS-CLIP	21572407
MIRT707338	hsa-miR-374a-5p	HITS-CLIP	21572407
MIRT707337	hsa-miR-374b-5p	HITS-CLIP	21572407
MIRT707336	hsa-miR-190a-3p	HITS-CLIP	21572407
MIRT646425	hsa-miR-6840-3p	HITS-CLIP	23824327
MIRT646426	hsa-miR-1915-3p	HITS-CLIP	23824327
MIRT646424	hsa-miR-6764-5p	HITS-CLIP	23824327
MIRT646423	hsa-miR-4726-3p	HITS-CLIP	23824327
MIRT646422	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT646421	hsa-miR-6791-3p	HITS-CLIP	23824327
MIRT646420	hsa-miR-6829-3p	HITS-CLIP	23824327
MIRT646419	hsa-miR-5001-3p	HITS-CLIP	23824327
MIRT646418	hsa-miR-6836-3p	HITS-CLIP	23824327
MIRT1146020	hsa-miR-1227	CLIP-seq
MIRT1146021	hsa-miR-1257	CLIP-seq
MIRT1146022	hsa-miR-1273f	CLIP-seq
MIRT1146023	hsa-miR-197	CLIP-seq
MIRT1146024	hsa-miR-3120-3p	CLIP-seq
MIRT1146025	hsa-miR-3123	CLIP-seq
MIRT1146026	hsa-miR-3148	CLIP-seq
MIRT1146027	hsa-miR-3149	CLIP-seq
MIRT1146028	hsa-miR-3150a-3p	CLIP-seq
MIRT1146029	hsa-miR-3155	CLIP-seq
MIRT1146030	hsa-miR-3155b	CLIP-seq
MIRT1146031	hsa-miR-3170	CLIP-seq
MIRT1146032	hsa-miR-3175	CLIP-seq
MIRT1146033	hsa-miR-3187-3p	CLIP-seq
MIRT1146034	hsa-miR-3622a-5p	CLIP-seq
MIRT1146035	hsa-miR-3915	CLIP-seq
MIRT1146036	hsa-miR-3919	CLIP-seq
MIRT1146037	hsa-miR-3928	CLIP-seq
MIRT1146038	hsa-miR-3978	CLIP-seq
MIRT1146039	hsa-miR-411	CLIP-seq
MIRT1146040	hsa-miR-4266	CLIP-seq
MIRT1146041	hsa-miR-4269	CLIP-seq
MIRT1146042	hsa-miR-4435	CLIP-seq
MIRT1146043	hsa-miR-4438	CLIP-seq
MIRT1146044	hsa-miR-4491	CLIP-seq
MIRT1146045	hsa-miR-451b	CLIP-seq
MIRT1146046	hsa-miR-4657	CLIP-seq
MIRT1146047	hsa-miR-4684-3p	CLIP-seq
MIRT1146048	hsa-miR-4695-5p	CLIP-seq
MIRT1146049	hsa-miR-4701-5p	CLIP-seq
MIRT1146050	hsa-miR-4715-3p	CLIP-seq
MIRT1146051	hsa-miR-4716-5p	CLIP-seq
MIRT1146052	hsa-miR-4729	CLIP-seq
MIRT1146053	hsa-miR-4735-5p	CLIP-seq
MIRT1146054	hsa-miR-4755-3p	CLIP-seq
MIRT1146055	hsa-miR-4775	CLIP-seq
MIRT1146056	hsa-miR-4779	CLIP-seq
MIRT1146057	hsa-miR-4781-3p	CLIP-seq
MIRT1146058	hsa-miR-484	CLIP-seq
MIRT1146059	hsa-miR-5095	CLIP-seq
MIRT1146060	hsa-miR-5096	CLIP-seq
MIRT1146061	hsa-miR-520a-5p	CLIP-seq
MIRT1146062	hsa-miR-525-5p	CLIP-seq
MIRT1146063	hsa-miR-548s	CLIP-seq
MIRT1146064	hsa-miR-571	CLIP-seq
MIRT1146065	hsa-miR-586	CLIP-seq
MIRT1146066	hsa-miR-588	CLIP-seq
MIRT1146067	hsa-miR-590-3p	CLIP-seq
MIRT1146068	hsa-miR-601	CLIP-seq
MIRT1146069	hsa-miR-605	CLIP-seq
MIRT1146070	hsa-miR-939	CLIP-seq
MIRT1551257	hsa-miR-1253	CLIP-seq
MIRT1146021	hsa-miR-1257	CLIP-seq
MIRT1551258	hsa-miR-1270	CLIP-seq
MIRT1551259	hsa-miR-1276	CLIP-seq
MIRT1551260	hsa-miR-3125	CLIP-seq
MIRT1146028	hsa-miR-3150a-3p	CLIP-seq
MIRT1146032	hsa-miR-3175	CLIP-seq
MIRT1551261	hsa-miR-3185	CLIP-seq
MIRT1551262	hsa-miR-3916	CLIP-seq
MIRT1146037	hsa-miR-3928	CLIP-seq
MIRT1551263	hsa-miR-4311	CLIP-seq
MIRT1551264	hsa-miR-4428	CLIP-seq
MIRT1551265	hsa-miR-4434	CLIP-seq
MIRT1551266	hsa-miR-4461	CLIP-seq
MIRT1551267	hsa-miR-4516	CLIP-seq
MIRT1551268	hsa-miR-4521	CLIP-seq
MIRT1551269	hsa-miR-4531	CLIP-seq
MIRT1551270	hsa-miR-4683	CLIP-seq
MIRT1551271	hsa-miR-583	CLIP-seq
MIRT1551272	hsa-miR-620	CLIP-seq
MIRT1146070	hsa-miR-939	CLIP-seq
MIRT2041522	hsa-miR-122	CLIP-seq
MIRT1146020	hsa-miR-1227	CLIP-seq
MIRT1146022	hsa-miR-1273f	CLIP-seq
MIRT2041523	hsa-miR-1307	CLIP-seq
MIRT2041524	hsa-miR-130a	CLIP-seq
MIRT2041525	hsa-miR-130b	CLIP-seq
MIRT2041526	hsa-miR-1915	CLIP-seq
MIRT1146023	hsa-miR-197	CLIP-seq
MIRT2041527	hsa-miR-301a	CLIP-seq
MIRT2041528	hsa-miR-301b	CLIP-seq
MIRT2041529	hsa-miR-3135b	CLIP-seq
MIRT1146027	hsa-miR-3149	CLIP-seq
MIRT1146031	hsa-miR-3170	CLIP-seq
MIRT1146034	hsa-miR-3622a-5p	CLIP-seq
MIRT2041530	hsa-miR-3652	CLIP-seq
MIRT2041531	hsa-miR-3666	CLIP-seq
MIRT1146039	hsa-miR-411	CLIP-seq
MIRT1146041	hsa-miR-4269	CLIP-seq
MIRT2041532	hsa-miR-4284	CLIP-seq
MIRT2041533	hsa-miR-4295	CLIP-seq
MIRT2041534	hsa-miR-4430	CLIP-seq
MIRT1146043	hsa-miR-4438	CLIP-seq
MIRT1146044	hsa-miR-4491	CLIP-seq
MIRT2041535	hsa-miR-454	CLIP-seq
MIRT2041536	hsa-miR-4638-5p	CLIP-seq
MIRT1146046	hsa-miR-4657	CLIP-seq
MIRT1146050	hsa-miR-4715-3p	CLIP-seq
MIRT1146053	hsa-miR-4735-5p	CLIP-seq
MIRT2041537	hsa-miR-4772-3p	CLIP-seq
MIRT1146055	hsa-miR-4775	CLIP-seq
MIRT1146059	hsa-miR-5095	CLIP-seq
MIRT1146060	hsa-miR-5096	CLIP-seq
MIRT2041538	hsa-miR-566	CLIP-seq
MIRT1146067	hsa-miR-590-3p	CLIP-seq
MIRT2041539	hsa-miR-652	CLIP-seq
MIRT2041522	hsa-miR-122	CLIP-seq
MIRT1146020	hsa-miR-1227	CLIP-seq
MIRT2041523	hsa-miR-1307	CLIP-seq
MIRT2041524	hsa-miR-130a	CLIP-seq
MIRT2041525	hsa-miR-130b	CLIP-seq
MIRT2041526	hsa-miR-1915	CLIP-seq
MIRT2271146	hsa-miR-1976	CLIP-seq
MIRT2041527	hsa-miR-301a	CLIP-seq
MIRT2041528	hsa-miR-301b	CLIP-seq
MIRT2041529	hsa-miR-3135b	CLIP-seq
MIRT1146034	hsa-miR-3622a-5p	CLIP-seq
MIRT2041530	hsa-miR-3652	CLIP-seq
MIRT2041531	hsa-miR-3666	CLIP-seq
MIRT1146041	hsa-miR-4269	CLIP-seq
MIRT2041532	hsa-miR-4284	CLIP-seq
MIRT2041533	hsa-miR-4295	CLIP-seq
MIRT2041534	hsa-miR-4430	CLIP-seq
MIRT1146043	hsa-miR-4438	CLIP-seq
MIRT2041535	hsa-miR-454	CLIP-seq
MIRT2041536	hsa-miR-4638-5p	CLIP-seq
MIRT1146050	hsa-miR-4715-3p	CLIP-seq
MIRT2271147	hsa-miR-4722-3p	CLIP-seq
MIRT2271148	hsa-miR-4740-3p	CLIP-seq
MIRT2041537	hsa-miR-4772-3p	CLIP-seq
MIRT2271149	hsa-miR-508-3p	CLIP-seq
MIRT1146059	hsa-miR-5095	CLIP-seq
MIRT2041538	hsa-miR-566	CLIP-seq
MIRT2041539	hsa-miR-652	CLIP-seq
MIRT2041523	hsa-miR-1307	CLIP-seq
MIRT2041526	hsa-miR-1915	CLIP-seq
MIRT2041532	hsa-miR-4284	CLIP-seq
MIRT2041536	hsa-miR-4638-5p	CLIP-seq
MIRT2041537	hsa-miR-4772-3p	CLIP-seq
MIRT2041538	hsa-miR-566	CLIP-seq
MIRT1146020	hsa-miR-1227	CLIP-seq
MIRT1146022	hsa-miR-1273f	CLIP-seq
MIRT2041523	hsa-miR-1307	CLIP-seq
MIRT1146023	hsa-miR-197	CLIP-seq
MIRT1146027	hsa-miR-3149	CLIP-seq
MIRT1146029	hsa-miR-3155	CLIP-seq
MIRT1146030	hsa-miR-3155b	CLIP-seq
MIRT1146031	hsa-miR-3170	CLIP-seq
MIRT1146033	hsa-miR-3187-3p	CLIP-seq
MIRT1146034	hsa-miR-3622a-5p	CLIP-seq
MIRT1146039	hsa-miR-411	CLIP-seq
MIRT2041532	hsa-miR-4284	CLIP-seq
MIRT1146042	hsa-miR-4435	CLIP-seq
MIRT2041536	hsa-miR-4638-5p	CLIP-seq
MIRT1146049	hsa-miR-4701-5p	CLIP-seq
MIRT1146050	hsa-miR-4715-3p	CLIP-seq
MIRT1146051	hsa-miR-4716-5p	CLIP-seq
MIRT1146053	hsa-miR-4735-5p	CLIP-seq
MIRT1146054	hsa-miR-4755-3p	CLIP-seq
MIRT2041537	hsa-miR-4772-3p	CLIP-seq
MIRT1146055	hsa-miR-4775	CLIP-seq
MIRT1146057	hsa-miR-4781-3p	CLIP-seq
MIRT1146058	hsa-miR-484	CLIP-seq
MIRT1146060	hsa-miR-5096	CLIP-seq
MIRT1146063	hsa-miR-548s	CLIP-seq
MIRT2041538	hsa-miR-566	CLIP-seq
MIRT1146066	hsa-miR-588	CLIP-seq
MIRT1146067	hsa-miR-590-3p	CLIP-seq
MIRT1146022	hsa-miR-1273f	CLIP-seq
MIRT1146027	hsa-miR-3149	CLIP-seq
MIRT1146031	hsa-miR-3170	CLIP-seq
MIRT1146039	hsa-miR-411	CLIP-seq
MIRT1146050	hsa-miR-4715-3p	CLIP-seq
MIRT1146053	hsa-miR-4735-5p	CLIP-seq
MIRT1146055	hsa-miR-4775	CLIP-seq
MIRT1146067	hsa-miR-590-3p	CLIP-seq
MIRT1146020	hsa-miR-1227	CLIP-seq
MIRT1146022	hsa-miR-1273f	CLIP-seq
MIRT2041523	hsa-miR-1307	CLIP-seq
MIRT1146023	hsa-miR-197	CLIP-seq
MIRT1146027	hsa-miR-3149	CLIP-seq
MIRT1146029	hsa-miR-3155	CLIP-seq
MIRT1146030	hsa-miR-3155b	CLIP-seq
MIRT1146031	hsa-miR-3170	CLIP-seq
MIRT1146033	hsa-miR-3187-3p	CLIP-seq
MIRT1146034	hsa-miR-3622a-5p	CLIP-seq
MIRT1146039	hsa-miR-411	CLIP-seq
MIRT1146041	hsa-miR-4269	CLIP-seq
MIRT2041532	hsa-miR-4284	CLIP-seq
MIRT2570268	hsa-miR-4287	CLIP-seq
MIRT1146042	hsa-miR-4435	CLIP-seq
MIRT1146043	hsa-miR-4438	CLIP-seq
MIRT2570269	hsa-miR-4469	CLIP-seq
MIRT2570270	hsa-miR-4474-5p	CLIP-seq
MIRT2041536	hsa-miR-4638-5p	CLIP-seq
MIRT2570271	hsa-miR-4685-3p	CLIP-seq
MIRT1146049	hsa-miR-4701-5p	CLIP-seq
MIRT1146050	hsa-miR-4715-3p	CLIP-seq
MIRT1146051	hsa-miR-4716-5p	CLIP-seq
MIRT1146053	hsa-miR-4735-5p	CLIP-seq
MIRT1146054	hsa-miR-4755-3p	CLIP-seq
MIRT2041537	hsa-miR-4772-3p	CLIP-seq
MIRT1146055	hsa-miR-4775	CLIP-seq
MIRT1146057	hsa-miR-4781-3p	CLIP-seq
MIRT1146058	hsa-miR-484	CLIP-seq
MIRT1146059	hsa-miR-5095	CLIP-seq
MIRT1146060	hsa-miR-5096	CLIP-seq
MIRT1146063	hsa-miR-548s	CLIP-seq
MIRT2570272	hsa-miR-561	CLIP-seq
MIRT2041538	hsa-miR-566	CLIP-seq
MIRT1146066	hsa-miR-588	CLIP-seq
MIRT1146067	hsa-miR-590-3p	CLIP-seq
MIRT2041522	hsa-miR-122	CLIP-seq
MIRT1146020	hsa-miR-1227	CLIP-seq
MIRT1146022	hsa-miR-1273f	CLIP-seq
MIRT2041523	hsa-miR-1307	CLIP-seq
MIRT2041524	hsa-miR-130a	CLIP-seq
MIRT2041525	hsa-miR-130b	CLIP-seq
MIRT1146023	hsa-miR-197	CLIP-seq
MIRT2041527	hsa-miR-301a	CLIP-seq
MIRT2041528	hsa-miR-301b	CLIP-seq
MIRT2041529	hsa-miR-3135b	CLIP-seq
MIRT1146027	hsa-miR-3149	CLIP-seq
MIRT1146029	hsa-miR-3155	CLIP-seq
MIRT1146030	hsa-miR-3155b	CLIP-seq
MIRT1146031	hsa-miR-3170	CLIP-seq
MIRT1146033	hsa-miR-3187-3p	CLIP-seq
MIRT1146034	hsa-miR-3622a-5p	CLIP-seq
MIRT2041530	hsa-miR-3652	CLIP-seq
MIRT2041531	hsa-miR-3666	CLIP-seq
MIRT1146039	hsa-miR-411	CLIP-seq
MIRT1146041	hsa-miR-4269	CLIP-seq
MIRT2041532	hsa-miR-4284	CLIP-seq
MIRT2570268	hsa-miR-4287	CLIP-seq
MIRT2041533	hsa-miR-4295	CLIP-seq
MIRT2041534	hsa-miR-4430	CLIP-seq
MIRT1146042	hsa-miR-4435	CLIP-seq
MIRT1146043	hsa-miR-4438	CLIP-seq
MIRT2570269	hsa-miR-4469	CLIP-seq
MIRT2570270	hsa-miR-4474-5p	CLIP-seq
MIRT2041535	hsa-miR-454	CLIP-seq
MIRT2041536	hsa-miR-4638-5p	CLIP-seq
MIRT2570271	hsa-miR-4685-3p	CLIP-seq
MIRT1146049	hsa-miR-4701-5p	CLIP-seq
MIRT1146050	hsa-miR-4715-3p	CLIP-seq
MIRT1146051	hsa-miR-4716-5p	CLIP-seq
MIRT1146053	hsa-miR-4735-5p	CLIP-seq
MIRT1146054	hsa-miR-4755-3p	CLIP-seq
MIRT1146055	hsa-miR-4775	CLIP-seq
MIRT1146057	hsa-miR-4781-3p	CLIP-seq
MIRT1146058	hsa-miR-484	CLIP-seq
MIRT1146059	hsa-miR-5095	CLIP-seq
MIRT1146060	hsa-miR-5096	CLIP-seq
MIRT1146063	hsa-miR-548s	CLIP-seq
MIRT2570272	hsa-miR-561	CLIP-seq
MIRT2041538	hsa-miR-566	CLIP-seq
MIRT1146066	hsa-miR-588	CLIP-seq
MIRT1146067	hsa-miR-590-3p	CLIP-seq
MIRT2041539	hsa-miR-652	CLIP-seq

Show/Hide all (13)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001527	Component	Microfibril	IBA
GO:0001527	Component	Microfibril	IEA
GO:0001527	Component	Microfibril	ISS
GO:0005201	Function	Extracellular matrix structural constituent	RCA	25037231, 27068509, 28327460, 28675934
GO:0005201	Function	Extracellular matrix structural constituent	TAS	8557636
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0031012	Component	Extracellular matrix	HDA	25037231, 27068509, 28327460, 28675934
GO:0031012	Component	Extracellular matrix	IEA
GO:0048048	Process	Embryonic eye morphogenesis	IBA
GO:0060216	Process	Definitive hemopoiesis	IEA
GO:0060216	Process	Definitive hemopoiesis	ISS
GO:0097435	Process	Supramolecular fiber organization	IEA

MIM	HGNC	e!Ensembl
601103	29673	ENSG00000197614

Q13361

Protein name

Microfibrillar-associated protein 5 (MFAP-5) (MP25) (Microfibril-associated glycoprotein 2) (MAGP-2)

Protein function

May play a role in hematopoiesis. In the cardiovascular system, could regulate growth factors or participate in cell signaling in maintaining large vessel integrity (By similarity). Component of the elastin-associated microfibrils (PubMed:855763

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF05507	MAGP	3 → 138	Microfibril-associated glycoprotein (MAGP)	Family

Sequence

MSLLGPKVLLFLAAFIITSDWIPLGVNSQRGDDVTQATPETFTEDPNLVNDPATDETVLA
VLADIAPSTDDLASLSEKNTTAECWDEKFTCTRLYSVHRPVKQCIHQLCFTSLRRMYIVN
KEICSRLVCKEHEAMKDELCRQMAGLPPRRLRRSNYFRLPPCENVDLQRPNGL

Sequence length

173

Interactions

View interactions

	Reactome
			Elastic fibre formation Molecules associated with elastic fibres

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 (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Aortic aneurysm, familial thoracic 9	Likely pathogenic	rs2540288652	RCV003330248	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Familial thoracic aortic aneurysm and aortic dissection	Likely pathogenic	rs1179559567	RCV003155778	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (22)

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.
Cardiovascular phenotype	Uncertain significance; Conflicting classifications of pathogenicity; Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CATARACT	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL CONTRACTURAL ARACHNODACTYLY	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONNECTIVE TISSUE DISEASES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Connective tissue disorder	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Isolated thoracic aortic aneurysm	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	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
MARFAN SYNDROME	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MFAP5-related disorder	Conflicting classifications of pathogenicity; Likely benign; Uncertain significance; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MIGRAINE DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (73)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Adenocarcinoma	Adenocarcinoma	BEFREE	31422503		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of colon	Adenocarcinoma Of Colon	BEFREE	31422503		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenomatous Polyps	Adenomatous Polyposis	BEFREE	31422503		★★★★★ ★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm Thoracic	Thoracic aortic aneurysm	Pubtator	26854089	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm, Abdominal	Aortic Aneurysm	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
AORTIC ANEURYSM, FAMILIAL THORACIC 9	Aortic Aneurysm	UNIPROT_DG	25434006		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
AORTIC ANEURYSM, FAMILIAL THORACIC 9	Aortic Aneurysm	GENOMICS_ENGLAND_DG	26854089		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
AORTIC ANEURYSM, FAMILIAL THORACIC 9	Aortic Aneurysm	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
AORTIC ANEURYSM, FAMILIAL THORACIC 9	Aortic Aneurysm	CTD_human_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Aortic Aneurysm, Thoracic	Aortic Aneurysm	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Aortic Dissection	Aortic dissection	Pubtator	25434006	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Aortic Valve Insufficiency	Aortic Valve Insufficiency	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Arachnodactyly	Arachnodactyly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Bicuspid aortic valve	Bicuspid aortic valve	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	29526753, 30320661		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	19962670		★★★★★ ★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	30454902		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervix carcinoma	Cervix carcinoma	BEFREE	30454902		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	BEFREE	26173433		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	31775892	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon Carcinoma	Colon Carcinoma	BEFREE	31422503		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	BEFREE	31422503		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	31426719		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	31426719	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital contractural arachnodactyly	Congenital Contractural Arachnodactyly	BEFREE	30031758		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital pectus carinatum	Congenital Pectus Carinatum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital pectus excavatum	Congenital Pectus Excavatum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cutis marmorata	Cutis marmorata	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Descending aortic dissection	Descending aortic dissection	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ductal Breast Carcinoma	Breast Carcinoma	BEFREE	30320661		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ductal Carcinoma	Ductal Carcinoma	BEFREE	30320661		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dyspnea, Paroxysmal	Dyspnea, Paroxysmal	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Familial thoracic aortic aneurysm and aortic dissection	Thoracic Aortic Aneurysm And Aortic Dissection	CLINGEN_DG	10224057, 12122015, 17099216, 19652764, 23963447, 25434006, 8557636		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Familial thoracic aortic aneurysm and aortic dissection	Thoracic Aortic Aneurysm And Aortic Dissection	ORPHANET_DG	25434006		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Familial thoracic aortic aneurysm and aortic dissection	Thoracic Aortic Aneurysm And Aortic Dissection	Orphanet			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Familial thoracic aortic aneurysm and aortic dissection	Thoracic Aortic Aneurysm And Aortic Dissection	GENOMICS_ENGLAND_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypertensive disease	Hypertension	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Intrahepatic Cholangiocarcinoma	Intrahepatic Cholangiocarcinoma	BEFREE	31775892		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukoplakia	Leukoplakia	BEFREE	28433800		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic Metastasis	BEFREE	27713166		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	27713166	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	29526753, 30320661		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	UNIPROT_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	19962670		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	31332047		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of tongue	Malignant Neoplasm Of Tongue	BEFREE	27713166		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	29681158		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	30454902		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	31422503		★★★★★ ★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	29524629		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mucinous Adenocarcinoma	Mucinous Adenocarcinoma	BEFREE	31422503		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mucopolysaccharidosis IV	Mucopolysaccharidosis	Pubtator	39735993	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	19962670, 30320661, 31332047, 31422503		★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	26054006		★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	26054006, 27919438	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteonecrosis	Osteonecrosis	Pubtator	37020143	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	19962670		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	19962670, 25277212, 36555638	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	31332047		★★★★★ ★☆☆☆☆ Found in Text Mining only
Patent ductus arteriosus	Patent ductus arteriosus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Peripheral arterial stenosis	Peripheral arterial stenosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1	Simpson-Golabi-Behmel Syndrome	BEFREE	26054006		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	27713166	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of tongue	Tongue carcinoma	BEFREE	29681158		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	39524442	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Subarachnoid Hemorrhage	Subarachnoid hemorrhage	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Tongue Neoplasms	Tongue cancer	Pubtator	27713166	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Transient Ischemic Attack	Transient Ischemic Attack	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	36474424	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Varicosity	Vulval varices	BEFREE	30070582		★★★★★ ★☆☆☆☆ Found in Text Mining only

MFAP5 (microfibril associated protein 5)