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

151

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Aortic aneurysm, familial thoracic 9	Likely pathogenic	rs2540288652	RCV003330248
Familial thoracic aortic aneurysm and aortic dissection	Likely pathogenic	rs1179559567	RCV003155778

Show/Hide Unknown Diseases (15)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Cardiovascular phenotype	Uncertain significance; Conflicting classifications of pathogenicity; Likely benign; Benign	rs145592970, rs1464656353, rs1042828478, rs2136485750, rs772494615, rs756494536, rs141186777, rs139330366, rs144375450, rs1941776470, rs781404692, rs142380998, rs767319138, rs1002670480, rs1216524899 View all (73 more)	RCV002370672 RCV002398119 RCV002344164 RCV002359336 RCV005672781 RCV002434522 RCV002398231 RCV002454433 RCV002331690 RCV002337593 RCV002454846 RCV002328026 RCV002328098 RCV002328102 RCV002333307 RCV002333876 RCV002455310 RCV002452344 RCV002331964 RCV002340149 RCV002357570 RCV002373262 RCV002375480 RCV002342271 RCV002335867 RCV002328721 RCV002330613 RCV002419163 RCV002376641 RCV002383116 RCV002389331 RCV002397116 RCV002381128 RCV002394342 RCV002443802 RCV002452921 RCV002408208 RCV002452888 RCV002426204 RCV002457552 RCV002431165 RCV002417083 RCV002425703 RCV002425714 RCV002428901 RCV002441517 RCV002441967 RCV005602017 RCV004983035 RCV003308194 RCV004983055 RCV005675001 RCV005662472 RCV005662473 RCV005601939 RCV004983093 RCV004983099 RCV003167639 RCV003170693 RCV004131224 RCV003181476 RCV003181477 RCV003181478 RCV003181479 RCV003301259 RCV003301261 RCV003301262 RCV003380098 RCV003380099 RCV003380100 RCV004371909 RCV004985530 RCV004636830 RCV006347849 RCV004985615 RCV004366894 RCV004416987 RCV004508741 RCV004508743 RCV004508744 RCV002356542 RCV002379374 RCV002365541 RCV002411320 RCV002393043 RCV002329184 RCV002376910 RCV004023349 RCV002456014 RCV002420587 RCV002453917 RCV003372890 RCV002336954 RCV004032939 RCV004035291 RCV004645471
Cervical cancer	Benign	rs13378100	RCV005924873
Cholangiocarcinoma	Benign	rs17802192, rs12833793	RCV005924963 RCV005896528
Connective tissue disorder	Uncertain significance	rs1555140533	RCV000659847
Familial cancer of breast	Conflicting classifications of pathogenicity	rs148879406	RCV005898111
Gastric cancer	Benign	rs2289384	RCV005917304
Isolated thoracic aortic aneurysm	Conflicting classifications of pathogenicity	rs727502791	RCV001374805
Lung cancer	Benign	rs13378100, rs17802192	RCV005924875 RCV005924964
Malignant lymphoma, large B-cell, diffuse	Benign	rs17802192, rs12833793	RCV005924961 RCV005896526
Malignant tumor of esophagus	Benign	rs2289384, rs17802192	RCV005917302 RCV005924960
MFAP5-related disorder	Conflicting classifications of pathogenicity; Likely benign; Uncertain significance; Benign	rs139330366, rs773321613, rs976841879, rs761990899, rs1941775318, rs2540291479, rs148879406, rs148770543, rs372458974, rs117523212, rs774489509, rs781404692	RCV003978628 RCV003898797 RCV003420555 RCV004750761 RCV004731567 RCV003894279 RCV003970227 RCV003915353 RCV003980191 RCV003953021 RCV003955549 RCV003970600
Nonpapillary renal cell carcinoma	Benign	rs12833793	RCV005896525
Ovarian serous cystadenocarcinoma	Benign	rs13378100	RCV005924874
Sarcoma	Benign	rs2289384	RCV005917303
Thymoma	Benign	rs17802192, rs12833793	RCV005924962 RCV005896527

Show/Hide Text Mining Associations (22)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Aortic Aneurysm Familial Thoracic 1	Associate	25434006
Aortic Aneurysm Thoracic	Associate	26854089
Aortic Dissection	Associate	25434006
Cholangiocarcinoma	Associate	31775892
Colorectal Neoplasms	Associate	31426719
Femur Head Necrosis	Inhibit	37020143
Inflammation	Associate	26054006
Lymphatic Metastasis	Associate	27713166
Mucopolysaccharidosis IV	Associate	39735993
Neoplasm Metastasis	Associate	25277212, 27713166
Neoplasms	Associate	19962670, 39524442
Neoplasms Cystic Mucinous and Serous	Stimulate	36555638
Obesity	Associate	26054006, 27919438
Osteonecrosis	Inhibit	37020143
Ovarian Neoplasms	Associate	19962670, 25277212, 36555638
Simpson Golabi Behmel syndrome	Associate	26054006
Squamous Cell Carcinoma of Head and Neck	Associate	27713166
Stomach Neoplasms	Associate	39524442
T cell immunodeficiency primary	Associate	39524442
Tongue Neoplasms	Associate	27713166
Urinary Bladder Neoplasms	Associate	36474424
Weight Loss	Inhibit	26054006

MFAP5 (microfibril associated protein 5)