MFAP5 (microfibril associated protein 5)

Gene

• Entrez ID: 8076
• Gene name: Microfibril associated protein 5
• Gene symbol: MFAP5
• Synonyms: AAT9, MAGP-2, MAGP2, MFAP-5, MP25
• 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

SNPs

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

miRNA

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

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001527	Component	Microfibril	IBA	21873635
GO:0001527	Component	Microfibril	ISS
GO:0005201	Function	Extracellular matrix structural constituent	RCA	25037231, 27068509, 28327460, 28675934
GO:0005576	Component	Extracellular region	TAS
GO:0030198	Process	Extracellular matrix organization	TAS
GO:0048048	Process	Embryonic eye morphogenesis	IBA	21873635
GO:0060216	Process	Definitive hemopoiesis	ISS
GO:0062023	Component	Collagen-containing extracellular matrix	HDA	25037231, 27068509, 28327460, 28675934
GO:0097435	Process	Supramolecular fiber organization	IEA

Other IDs

• MIM: 601103
• HGNC: 29673
• e!Ensembl: ENSG00000197614

Protein

• UniProt ID: 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

Pathways

Reactome:

Elastic fibre formation
Molecules associated with elastic fibres

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Aortic aneurysm	Aortic Aneurysm, Abdominal, Aortic Aneurysm, Thoracic, AORTIC ANEURYSM, FAMILIAL THORACIC 9	rs1555554098, rs267606902, rs121434526, rs121434527, rs121434528, rs387906592, rs387906781, rs387906782, rs397516685, rs397514037, rs112901682, rs397515325, rs397515330, rs794728025, rs112602953, rs794728021, rs8046180, rs797045725, rs876657852, rs878854466, rs886038978, rs746972765, rs886039303, rs886040965, rs886040966, rs886040967, rs886229659, rs1553781304, rs1060502531, rs1553795301, rs1553803235, rs1213452826, rs869025352, rs1553780501, rs1553785222, rs1382893400, rs1554841990, rs1430822242, rs1567692384, rs1576422965, rs1596712899, rs2059732940, rs2041090817, rs1439991530	25434006, 26854089
Bicuspid aortic valve	Bicuspid aortic valve	rs1569484234, rs1569484208
Breast cancer	Malignant neoplasm of breast	rs587776547, rs1137887, rs137853007, rs587776650, rs80359351, rs80359714, rs121917783, rs104886456, rs121964878, rs80359874, rs80357868, rs80357508, rs387906843, rs80357569, rs80358158, rs80357524, rs80357115, rs80357945, rs80357729, rs80357609, rs80357259, rs80357981, rs80358063, rs80357389, rs80356862, rs80359876, rs80357580, rs80358053, rs80358089, rs80187739, rs397507241, rs80358069, rs80357590, rs80357284, rs80357941, rs80359261, rs80359272, rs80359276, rs276174813, rs80358474, rs80359316, rs1555282969, rs80359388, rs80359499, rs80359505, rs80359520, rs80359526, rs80359533, rs56253082, rs80358824, rs80359554, rs80359636, rs80359651, rs80359659, rs80359011, rs80359012, rs80359013, rs80359718, rs397507410, rs81002812, rs80359730, rs80359152, rs80359159, rs397507419, rs28897759, rs80359211, rs80359775, rs397514577, rs397507584, rs80358435, rs80358456, rs80359340, rs80359343, rs80359365, rs80358579, rs397507670, rs80358593, rs80359406, rs80359444, rs80359454, rs276174853, rs276174854, rs80359483, rs80359537, rs80358815, rs80358843, rs80359558, rs80359560, rs80359594, rs80358893, rs28897743, rs397507900, rs397507906, rs397507918, rs80358971, rs80358981, rs397507941, rs80359030, rs80359035, rs41293511, rs397507396, rs81002806, rs80359112, rs397508006, rs81002893, rs45580035, rs80359760, rs397508051, rs80359772, rs4987049, rs80359777, rs80357770, rs397508867, rs62625303, rs397508874, rs80357506, rs80357287, rs273898674, rs80358042, rs80358083, rs80357058, rs41286296, rs80357960, rs80356945, rs80357223, rs386134270, rs80358116, rs80357856, rs80357424, rs397509050, rs80357485, rs80357966, rs397509067, rs80357310, rs80356866, rs80357260, rs80357437, rs80358023, rs80358086, rs80357133, rs80356993, rs80357997, rs80357239, rs80357227, rs397509243, rs80356969, rs80356959, rs63750617, rs63751319, rs587779315, rs200640585, rs398122546, rs80357543, rs398122687, rs80359328, rs398122779, rs398122783, rs62517194, rs80358029, rs515726060, rs180177103, rs180177111, rs180177133, rs587776527, rs180177135, rs180177136, rs515726117, rs587779813, rs587779909, rs587780024, rs587780100, rs28909982, rs121908698, rs180177100, rs587780210, rs587780240, rs587780639, rs587781269, rs587781353, rs587781471, rs587781658, rs587781697, rs587781730, rs587781894, rs587781948, rs587782005, rs587782011, rs200928781, rs587781558, rs370228071, rs587782245, rs587782401, rs180177110, rs587782504, rs72552322, rs587782531, rs587782620, rs587782680, rs587782774, rs587782818, rs730881411, rs730881389, rs564652222, rs397507768, rs587776419, rs730881868, rs730881940, rs56383036, rs758972589, rs201089102, rs730881348, rs786202608, rs786201886, rs786203318, rs786203775, rs786203714, rs786202033, rs750621215, rs786203884, rs786203650, rs772821016, rs863224521, rs864622223, rs864622655, rs375699023, rs876659572, rs768362387, rs876659535, rs876658957, rs483353072, rs876659435, rs267608041, rs876661113, rs730881369, rs878853535, rs772228129, rs878855122, rs760551339, rs80359596, rs397509222, rs886039630, rs886039683, rs886040828, rs587781799, rs886040374, rs886040649, rs397507967, rs878854957, rs886040043, rs1057517589, rs1060502769, rs866380588, rs863224765, rs1064793243, rs747563556, rs1555074976, rs1064795885, rs753961188, rs1064794708, rs869312772, rs1064793887, rs1131690820, rs1135401928, rs1135401868, rs1135401859, rs1553370324, rs397507630, rs1555283160, rs1555283251, rs1555283262, rs1555283361, rs1555286298, rs1555288462, rs886040950, rs1555289566, rs776323117, rs80357123, rs1555579627, rs1555580697, rs80358054, rs1555593302, rs1328985852, rs763470424, rs1555139694, rs878854697, rs1555461217, rs1555461765, rs774684620, rs766416564, rs1554558613, rs1305740166, rs1555461460, rs1555461407, rs1555461586, rs1555567202, rs1555607022, rs1555069815, rs1442299125, rs1474786480, rs1555084947, rs1555457867, rs141087784, rs1482641121, rs1564830522, rs1565469955, rs1565503137, rs864622613, rs755263466, rs757679199, rs1593903166, rs1597801649, rs1603293306, rs879253880, rs80358754, rs1597062038, rs45494092, rs1603275367, rs887358871, rs1597091518, rs1966967065, rs1064793049, rs2082872908, rs2085078278, rs2072475243
Hypertension	Hypertensive disease	rs13306026, rs13333226
Patent ductus arteriosus	Patent ductus arteriosus	rs80338911, rs879253870, rs879253871, rs879255278, rs879255279, rs879253872
Scoliosis	Scoliosis, unspecified	rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085
Thoracic aortic aneurysm and aortic dissection	Familial thoracic aortic aneurysm and aortic dissection	rs121964962, rs121964964, rs5742905, rs121964969, rs28934891, rs375846341, rs121964972, rs121964973, rs587776600, rs121908172, rs121908173, rs121918714, rs104893809, rs104893815, rs104893810, rs104893811, rs104893816, rs104893817, rs104893819, rs111854391, rs113605875, rs111426349, rs267606902, rs121913552, rs267606796, rs137854458, rs137854461, rs137854463, rs137854464, rs137854466, rs112989722, rs137854476, rs137854477, rs137854478, rs137854479, rs137854480, rs137854485, rs786200923, rs113485686, rs397509370, rs121912927, rs121912923, rs121912926, rs121434526, rs121434527, rs121434528, rs387906592, rs387906606, rs387906623, rs387906697, rs387906781, rs387906782, rs387906850, rs587776881, rs387906853, rs193922183, rs193922185, rs193921256, rs112202622, rs193922198, rs193922204, rs113871094, rs147195031, rs193922236, rs397514558, rs397514590, rs397515757, rs113812345, rs25403, rs397515766, rs397515767, rs25404, rs397515774, rs397515784, rs397515788, rs397515793, rs397515805, rs397515808, rs397515811, rs397515812, rs111231312, rs113905529, rs113249837, rs397515821, rs397515823, rs397515829, rs111687884, rs113080385, rs397515848, rs397515854, rs397515867, rs397516685, rs112901682, rs397515330, rs587779450, rs587779461, rs587779471, rs587779476, rs587779478, rs587779479, rs587779482, rs587779490, rs587779504, rs397509372, rs587779518, rs587779534, rs587779536, rs587779540, rs587779550, rs587779535, rs587779563, rs587779583, rs587779584, rs587779596, rs587779604, rs587779609, rs587779500, rs587779620, rs587779625, rs587779626, rs587779541, rs587779650, rs587779671, rs112371422, rs587779685, rs587779687, rs587779691, rs587779692, rs587779695, rs587779533, rs587779706, rs587779712, rs587782948, rs587782977, rs587782979, rs587781259, rs767864243, rs146579504, rs864309481, rs370547023, rs727503476, rs727503472, rs727504292, rs727503054, rs140593, rs727503057, rs727505006, rs727504421, rs730880223, rs730880102, rs112645512, rs730880097, rs730880214, rs771298943, rs764160782, rs770095972, rs781444670, rs794727798, rs149119723, rs794728040, rs794728054, rs794728057, rs794728060, rs112602953, rs794728021, rs794728288, rs794728283, rs794728281, rs794728280, rs794728337, rs112118237, rs794728336, rs794728270, rs794728319, rs794728262, rs794728253, rs76702162, rs794728335, rs794728334, rs763091520, rs761857514, rs794728234, rs140627, rs140630, rs794728228, rs794728216, rs763449629, rs794728208, rs794728204, rs794728306, rs794728203, rs794728305, rs794728322, rs794728195, rs794728194, rs794728190, rs794728188, rs113422242, rs794728166, rs794728325, rs794728165, rs794728162, rs112660651, rs796051885, rs863223796, rs863223792, rs863223847, rs863223852, rs863223854, rs863223444, rs863223478, rs863223473, rs863223829, rs760079636, rs863223818, rs863223750, rs863223762, rs863223756, rs768713596, rs745672741, rs863223759, rs863223760, rs863223737, rs863223738, rs863223739, rs863223740, rs863223768, rs863223754, rs372010465, rs148865119, rs863224935, rs864622754, rs869025531, rs869025537, rs869025494, rs112642323, rs869025414, rs869025411, rs869025418, rs869312903, rs876657852, rs878854610, rs878854611, rs878853686, rs878853689, rs878853682, rs745409628, rs794728044, rs886038853, rs886038952, rs863223845, rs886039106, rs886038783, rs886038919, rs886038954, rs886038978, rs746972765, rs886038870, rs886038869, rs886038975, rs886038786, rs886038955, rs886038930, rs886039092, rs886039158, rs886038894, rs886038949, rs886038967, rs886038976, rs886039047, rs886038957, rs794728241, rs886038959, rs886038790, rs886039167, rs886038838, rs886038979, rs886039120, rs886038970, rs886038940, rs886039035, rs886039196, rs886038802, rs886038956, rs886038996, rs886038877, rs886039054, rs886039038, rs886038984, rs886038972, rs886039034, rs886039036, rs886039072, rs886039066, rs886038987, rs565513365, rs886039551, rs886039492, rs140583, rs886039550, rs886037823, rs886039820, rs886040966, rs886041046, rs886044547, rs755952006, rs1057518075, rs397514037, rs1057518653, rs1057521150, rs1057521106, rs1057524810, rs1057523796, rs1057523647, rs1057521101, rs1060501984, rs104893807, rs1060502045, rs1060502046, rs1060502827, rs1555399379, rs1060501035, rs1555412070, rs1555394151, rs1060501051, rs753486471, rs1060500770, rs1060500766, rs1060501092, rs1060501055, rs1060501021, rs1060501038, rs1060500773, rs1064796256, rs1064797017, rs1064794130, rs1064796636, rs1064794789, rs1555414236, rs757106110, rs1085307921, rs1085308004, rs1131691996, rs1131691766, rs363804, rs397515764, rs1555394195, rs113603747, rs528689432, rs587782947, rs1553303213, rs1553630171, rs1555360368, rs1555393875, rs1555395256, rs1555396427, rs1555397548, rs1006530719, rs587779704, rs587779578, rs104893812, rs1553630235, rs1553630289, rs1553630426, rs1553631693, rs1554122857, rs1057524497, rs1554700672, rs1555395486, rs1555396998, rs1555360229, rs1555412069, rs1555413579, rs1555397203, rs112375043, rs1555397720, rs140599, rs1555400373, rs1555405031, rs1555397008, rs1555405108, rs1015798796, rs1553631968, rs1555394904, rs1553303352, rs1553508338, rs1555398835, rs1555401011, rs1555395826, rs1555399481, rs1347651454, rs1553508039, rs1553507180, rs1553507867, rs1553808296, rs727503475, rs1554799402, rs1554701881, rs1554702262, rs1555393516, rs1555393856, rs1555394142, rs1555395209, rs1555395742, rs1555396638, rs1555398830, rs1555399166, rs1555399387, rs1555400378, rs1555401687, rs1555459260, rs1433428588, rs1401035675, rs1553292123, rs1553303357, rs1553303745, rs1393544920, rs1553507574, rs1553507991, rs587779433, rs587779458, rs1553508957, rs1553509869, rs1554122896, rs1554123064, rs1554787526, rs1554792869, rs1554805638, rs1554726251, rs1554698926, rs1554700603, rs869025352, rs1555360047, rs1555393539, rs1555393823, rs1555393837, rs1555393844, rs1555393871, rs1555393880, rs1555394146, rs1555394149, rs1555394196, rs1555394396, rs1555394400, rs1555394433, rs112550005, rs1555394566, rs112836174, rs1555394781, rs1555394927, rs1555395002, rs1555395206, rs794728247, rs1304643689, rs1555395461, rs1555395652, rs1555395658, rs1555395840, rs765387131, rs1555396429, rs1555396760, rs1555396835, rs1555397000, rs1555397014, rs1555397016, rs1555397148, rs1555397154, rs778710767, rs1555397557, rs1555397646, rs1555397704, rs1555398143, rs1555398272, rs1555398406, rs372404949, rs1555398680, rs1555398681, rs1555398828, rs1057523406, rs1555399143, rs1555399147, rs1555399205, rs1555399257, rs1555399361, rs1555399388, rs1555399764, rs1555399835, rs1555399839, rs1555400285, rs1555401686, rs1555401699, rs363852, rs1555404819, rs1555405039, rs1555405056, rs1555405534, rs1555407416, rs1555405092, rs730880215, rs1557179684, rs1555395980, rs1555396789, rs1555399816, rs1555393647, rs1555395645, rs1556337063, rs1553507614, rs1553509391, rs1553630438, rs1553630274, rs1555394238, rs1555396418, rs1206813753, rs1555399271, rs1555395663, rs1555397652, rs1555398283, rs1445085747, rs1554702463, rs363810, rs363806, rs1555395820, rs1555394189, rs1555394397, rs1555394399, rs1555394783, rs363815, rs1555395267, rs111239111, rs1555396993, rs1060501076, rs113693945, rs1555398404, rs1555398625, rs1555399162, rs1555399210, rs193922188, rs1060501017, rs1060501041, rs1555400049, rs1555400278, rs1555400279, rs1156747241, rs1555400372, rs1555400387, rs752010116, rs1555401679, rs1555404810, rs141502207, rs1553292145, rs375737772, rs1566891654, rs1566897374, rs1566905976, rs1566891655, rs1346043320, rs1566999621, rs1567002059, rs1567002115, rs1567003613, rs863223832, rs1566891808, rs1245476075, rs1566890005, rs1352478541, rs1566913670, rs1566894230, rs765692335, rs1566914030, rs1566999458, rs1569482431, rs886039176, rs1566891701, rs1566999423, rs1566999601, rs1566999610, rs1559472349, rs1566891668, rs1566891675, rs1566892872, rs1566898120, rs1566900492, rs1566903914, rs1566904526, rs1555397419, rs1566906506, rs1555398627, rs1566919637, rs869312034, rs1566900540, rs794728192, rs1566938153, rs1566892735, rs1603360542, rs1597516325, rs1597531796, rs755528878, rs1575165264, rs1597512600, rs1597516347, rs1555398144, rs1595942351, rs1595960447, rs1595965925, rs1595965945, rs1576468385, rs1595956832, rs1320208623, rs1575165272, rs1597562812, rs1575166666, rs1588477255, rs794728193, rs1688258933, rs1699392675, rs760797386, rs1699709401, rs1827902114, rs2035418540, rs2043116624, rs1555395745, rs2043594915, rs2043746138, rs2043846274, rs2044515247, rs1291288543, rs373782713, rs2042873946, rs1688274077	17099216, 12122015, 23963447, 25434006, 10224057, 8557636, 19652764

Unknown
Disease name	Disease term	dbSNP ID	References
Aortic valve insufficiency	Aortic Valve Insufficiency
Arachnodactyly	Arachnodactyly
Congenital pectus carinatum	Congenital pectus carinatum
Congenital pectus excavatum	Congenital pectus excavatum
Coronary arteriosclerosis	Coronary Arteriosclerosis
Cutis marmorata	Cutis marmorata
Descending aortic dissection	Descending aortic dissection
Dyspnea, paroxysmal	Dyspnea, Paroxysmal
Ischemic stroke	Ischemic stroke	rs6025, rs1799963, rs1799983
Peripheral arterial stenosis	Peripheral arterial stenosis
Subarachnoid hemorrhage	Subarachnoid Hemorrhage
Transient ischemic attack	Transient Ischemic Attack