MGP (matrix Gla protein)

Gene

• Entrez ID: 4256
• Gene name: Matrix Gla protein
• Gene symbol: MGP
• Synonyms: GIG36, MGLAP, NTI
• Chromosome: 12
• Chromosome location: 12p12.3
• Summary: This gene encodes a member of the osteocalcin/matrix Gla family of proteins. The encoded vitamin K-dependent protein is secreted by chondrocytes and vascular smooth muscle cells, and functions as a physiological inhibitor of ectopic tissue calcification.

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs111320759	C>T	Pathogenic-likely-pathogenic, pathogenic	Splice donor variant
rs112518413	T>A,C	Pathogenic	Splice acceptor variant
rs730880321	C>-	Pathogenic	Coding sequence variant, stop gained
rs730880322	A>G,T	Pathogenic	Coding sequence variant, stop gained, synonymous variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT017975	hsa-miR-335-5p	Microarray	18185580
MIRT029487	hsa-miR-26b-5p	Microarray	19088304
MIRT1147531	hsa-miR-1273f	CLIP-seq
MIRT1147532	hsa-miR-1303	CLIP-seq
MIRT1147533	hsa-miR-135a	CLIP-seq
MIRT1147534	hsa-miR-135b	CLIP-seq
MIRT1147535	hsa-miR-143	CLIP-seq
MIRT1147536	hsa-miR-148a	CLIP-seq
MIRT1147537	hsa-miR-148b	CLIP-seq
MIRT1147538	hsa-miR-152	CLIP-seq
MIRT1147539	hsa-miR-3121-5p	CLIP-seq
MIRT1147540	hsa-miR-3123	CLIP-seq
MIRT1147541	hsa-miR-3148	CLIP-seq
MIRT1147542	hsa-miR-3180	CLIP-seq
MIRT1147543	hsa-miR-3180-3p	CLIP-seq
MIRT1147544	hsa-miR-3196	CLIP-seq
MIRT1147545	hsa-miR-342-5p	CLIP-seq
MIRT1147546	hsa-miR-3668	CLIP-seq
MIRT1147547	hsa-miR-3925-5p	CLIP-seq
MIRT1147548	hsa-miR-3936	CLIP-seq
MIRT1147549	hsa-miR-3944-5p	CLIP-seq
MIRT1147550	hsa-miR-4325	CLIP-seq
MIRT1147551	hsa-miR-4418	CLIP-seq
MIRT1147552	hsa-miR-4488	CLIP-seq
MIRT1147553	hsa-miR-4664-5p	CLIP-seq
MIRT1147554	hsa-miR-4667-5p	CLIP-seq
MIRT1147555	hsa-miR-4668-5p	CLIP-seq
MIRT1147556	hsa-miR-4697-5p	CLIP-seq
MIRT1147557	hsa-miR-4700-5p	CLIP-seq
MIRT1147558	hsa-miR-4708-5p	CLIP-seq
MIRT1147559	hsa-miR-4712-3p	CLIP-seq
MIRT1147560	hsa-miR-4725-5p	CLIP-seq
MIRT1147561	hsa-miR-4770	CLIP-seq
MIRT1147562	hsa-miR-495	CLIP-seq
MIRT1147563	hsa-miR-504	CLIP-seq
MIRT1147564	hsa-miR-509-3-5p	CLIP-seq
MIRT1147565	hsa-miR-509-5p	CLIP-seq
MIRT1147566	hsa-miR-629	CLIP-seq
MIRT1147567	hsa-miR-637	CLIP-seq
MIRT2041978	hsa-miR-1228	CLIP-seq
MIRT2041979	hsa-miR-151-3p	CLIP-seq
MIRT2041980	hsa-miR-3688-3p	CLIP-seq
MIRT2041981	hsa-miR-3924	CLIP-seq
MIRT2041982	hsa-miR-4445	CLIP-seq
MIRT2041983	hsa-miR-4705	CLIP-seq
MIRT2041984	hsa-miR-4781-3p	CLIP-seq
MIRT2041985	hsa-miR-4795-3p	CLIP-seq
MIRT2041978	hsa-miR-1228	CLIP-seq
MIRT2271684	hsa-miR-125a-3p	CLIP-seq
MIRT1147536	hsa-miR-148a	CLIP-seq
MIRT1147537	hsa-miR-148b	CLIP-seq
MIRT2041979	hsa-miR-151-3p	CLIP-seq
MIRT1147538	hsa-miR-152	CLIP-seq
MIRT2271685	hsa-miR-155	CLIP-seq
MIRT2271686	hsa-miR-221	CLIP-seq
MIRT2271687	hsa-miR-222	CLIP-seq
MIRT1147539	hsa-miR-3121-5p	CLIP-seq
MIRT1147540	hsa-miR-3123	CLIP-seq
MIRT1147541	hsa-miR-3148	CLIP-seq
MIRT1147542	hsa-miR-3180	CLIP-seq
MIRT1147543	hsa-miR-3180-3p	CLIP-seq
MIRT1147544	hsa-miR-3196	CLIP-seq
MIRT1147545	hsa-miR-342-5p	CLIP-seq
MIRT2271688	hsa-miR-3607-3p	CLIP-seq
MIRT2271689	hsa-miR-3686	CLIP-seq
MIRT2041980	hsa-miR-3688-3p	CLIP-seq
MIRT2041981	hsa-miR-3924	CLIP-seq
MIRT2271690	hsa-miR-3934	CLIP-seq
MIRT1147548	hsa-miR-3936	CLIP-seq
MIRT1147549	hsa-miR-3944-5p	CLIP-seq
MIRT2271691	hsa-miR-410	CLIP-seq
MIRT1147550	hsa-miR-4325	CLIP-seq
MIRT1147551	hsa-miR-4418	CLIP-seq
MIRT2041982	hsa-miR-4445	CLIP-seq
MIRT1147552	hsa-miR-4488	CLIP-seq
MIRT2271692	hsa-miR-4522	CLIP-seq
MIRT2271693	hsa-miR-4525	CLIP-seq
MIRT2271694	hsa-miR-4652-3p	CLIP-seq
MIRT1147553	hsa-miR-4664-5p	CLIP-seq
MIRT1147554	hsa-miR-4667-5p	CLIP-seq
MIRT1147555	hsa-miR-4668-5p	CLIP-seq
MIRT1147556	hsa-miR-4697-5p	CLIP-seq
MIRT2271695	hsa-miR-4700-3p	CLIP-seq
MIRT1147557	hsa-miR-4700-5p	CLIP-seq
MIRT2041983	hsa-miR-4705	CLIP-seq
MIRT2271696	hsa-miR-4716-3p	CLIP-seq
MIRT1147560	hsa-miR-4725-5p	CLIP-seq
MIRT2041984	hsa-miR-4781-3p	CLIP-seq
MIRT2041985	hsa-miR-4795-3p	CLIP-seq
MIRT1147563	hsa-miR-504	CLIP-seq
MIRT1147564	hsa-miR-509-3-5p	CLIP-seq
MIRT1147565	hsa-miR-509-5p	CLIP-seq
MIRT2271697	hsa-miR-548l	CLIP-seq
MIRT2271698	hsa-miR-548v	CLIP-seq
MIRT2271699	hsa-miR-568	CLIP-seq
MIRT1147567	hsa-miR-637	CLIP-seq
MIRT2271700	hsa-miR-764	CLIP-seq
MIRT1147536	hsa-miR-148a	CLIP-seq
MIRT1147537	hsa-miR-148b	CLIP-seq
MIRT1147538	hsa-miR-152	CLIP-seq
MIRT1147550	hsa-miR-4325	CLIP-seq
MIRT1147551	hsa-miR-4418	CLIP-seq
MIRT1147560	hsa-miR-4725-5p	CLIP-seq
MIRT1147563	hsa-miR-504	CLIP-seq
MIRT1147564	hsa-miR-509-3-5p	CLIP-seq
MIRT1147565	hsa-miR-509-5p	CLIP-seq
MIRT1147531	hsa-miR-1273f	CLIP-seq
MIRT1147535	hsa-miR-143	CLIP-seq
MIRT2454066	hsa-miR-200b	CLIP-seq
MIRT2454067	hsa-miR-200c	CLIP-seq
MIRT2454068	hsa-miR-28-3p	CLIP-seq
MIRT2454069	hsa-miR-374c	CLIP-seq
MIRT2454070	hsa-miR-429	CLIP-seq
MIRT1147558	hsa-miR-4708-5p	CLIP-seq
MIRT1147559	hsa-miR-4712-3p	CLIP-seq
MIRT1147561	hsa-miR-4770	CLIP-seq
MIRT2454071	hsa-miR-655	CLIP-seq
MIRT2570644	hsa-miR-1202	CLIP-seq
MIRT2041978	hsa-miR-1228	CLIP-seq
MIRT2570645	hsa-miR-1233	CLIP-seq
MIRT2570646	hsa-miR-1236	CLIP-seq
MIRT2570647	hsa-miR-1237	CLIP-seq
MIRT2570648	hsa-miR-1238	CLIP-seq
MIRT2271684	hsa-miR-125a-3p	CLIP-seq
MIRT2570649	hsa-miR-129-5p	CLIP-seq
MIRT1147532	hsa-miR-1303	CLIP-seq
MIRT1147533	hsa-miR-135a	CLIP-seq
MIRT1147534	hsa-miR-135b	CLIP-seq
MIRT1147535	hsa-miR-143	CLIP-seq
MIRT2570650	hsa-miR-146b-3p	CLIP-seq
MIRT1147536	hsa-miR-148a	CLIP-seq
MIRT1147537	hsa-miR-148b	CLIP-seq
MIRT1147538	hsa-miR-152	CLIP-seq
MIRT2271685	hsa-miR-155	CLIP-seq
MIRT2271686	hsa-miR-221	CLIP-seq
MIRT2271687	hsa-miR-222	CLIP-seq
MIRT2570651	hsa-miR-2355-3p	CLIP-seq
MIRT2570652	hsa-miR-302f	CLIP-seq
MIRT2570653	hsa-miR-3064-3p	CLIP-seq
MIRT1147539	hsa-miR-3121-5p	CLIP-seq
MIRT1147540	hsa-miR-3123	CLIP-seq
MIRT2570654	hsa-miR-3140-3p	CLIP-seq
MIRT1147541	hsa-miR-3148	CLIP-seq
MIRT2570655	hsa-miR-3160-5p	CLIP-seq
MIRT2570656	hsa-miR-3179	CLIP-seq
MIRT1147542	hsa-miR-3180	CLIP-seq
MIRT1147543	hsa-miR-3180-3p	CLIP-seq
MIRT2570657	hsa-miR-3194-5p	CLIP-seq
MIRT1147544	hsa-miR-3196	CLIP-seq
MIRT2570658	hsa-miR-338-5p	CLIP-seq
MIRT1147545	hsa-miR-342-5p	CLIP-seq
MIRT2271688	hsa-miR-3607-3p	CLIP-seq
MIRT2570659	hsa-miR-3613-3p	CLIP-seq
MIRT2570660	hsa-miR-3646	CLIP-seq
MIRT2271689	hsa-miR-3686	CLIP-seq
MIRT2041980	hsa-miR-3688-3p	CLIP-seq
MIRT2041981	hsa-miR-3924	CLIP-seq
MIRT1147547	hsa-miR-3925-5p	CLIP-seq
MIRT2570661	hsa-miR-3927	CLIP-seq
MIRT2271690	hsa-miR-3934	CLIP-seq
MIRT1147548	hsa-miR-3936	CLIP-seq
MIRT1147549	hsa-miR-3944-5p	CLIP-seq
MIRT2570662	hsa-miR-3972	CLIP-seq
MIRT2271691	hsa-miR-410	CLIP-seq
MIRT2570663	hsa-miR-4264	CLIP-seq
MIRT2570664	hsa-miR-4307	CLIP-seq
MIRT2570665	hsa-miR-4311	CLIP-seq
MIRT1147550	hsa-miR-4325	CLIP-seq
MIRT2570666	hsa-miR-4328	CLIP-seq
MIRT1147551	hsa-miR-4418	CLIP-seq
MIRT2570667	hsa-miR-4451	CLIP-seq
MIRT1147552	hsa-miR-4488	CLIP-seq
MIRT2570668	hsa-miR-4496	CLIP-seq
MIRT2271692	hsa-miR-4522	CLIP-seq
MIRT2271693	hsa-miR-4525	CLIP-seq
MIRT2570669	hsa-miR-4645-3p	CLIP-seq
MIRT2570670	hsa-miR-4646-3p	CLIP-seq
MIRT2271694	hsa-miR-4652-3p	CLIP-seq
MIRT2570671	hsa-miR-4659a-3p	CLIP-seq
MIRT2570672	hsa-miR-4659b-3p	CLIP-seq
MIRT1147553	hsa-miR-4664-5p	CLIP-seq
MIRT1147554	hsa-miR-4667-5p	CLIP-seq
MIRT2570673	hsa-miR-4668-3p	CLIP-seq
MIRT1147555	hsa-miR-4668-5p	CLIP-seq
MIRT2570674	hsa-miR-4691-5p	CLIP-seq
MIRT1147556	hsa-miR-4697-5p	CLIP-seq
MIRT2271695	hsa-miR-4700-3p	CLIP-seq
MIRT1147557	hsa-miR-4700-5p	CLIP-seq
MIRT2041983	hsa-miR-4705	CLIP-seq
MIRT2271696	hsa-miR-4716-3p	CLIP-seq
MIRT1147560	hsa-miR-4725-5p	CLIP-seq
MIRT2570675	hsa-miR-4742-3p	CLIP-seq
MIRT2570676	hsa-miR-4753-3p	CLIP-seq
MIRT2570677	hsa-miR-4768-5p	CLIP-seq
MIRT1147561	hsa-miR-4770	CLIP-seq
MIRT2570678	hsa-miR-4776-3p	CLIP-seq
MIRT2570679	hsa-miR-4777-5p	CLIP-seq
MIRT2041984	hsa-miR-4781-3p	CLIP-seq
MIRT2041985	hsa-miR-4795-3p	CLIP-seq
MIRT1147563	hsa-miR-504	CLIP-seq
MIRT1147564	hsa-miR-509-3-5p	CLIP-seq
MIRT1147565	hsa-miR-509-5p	CLIP-seq
MIRT2570680	hsa-miR-518d-5p	CLIP-seq
MIRT2570681	hsa-miR-519b-5p	CLIP-seq
MIRT2570682	hsa-miR-519c-5p	CLIP-seq
MIRT2570683	hsa-miR-520c-5p	CLIP-seq
MIRT2570684	hsa-miR-526a	CLIP-seq
MIRT2271698	hsa-miR-548v	CLIP-seq
MIRT2271699	hsa-miR-568	CLIP-seq
MIRT1147566	hsa-miR-629	CLIP-seq
MIRT1147567	hsa-miR-637	CLIP-seq
MIRT2570685	hsa-miR-642a	CLIP-seq
MIRT2271700	hsa-miR-764	CLIP-seq
MIRT2570644	hsa-miR-1202	CLIP-seq
MIRT2041978	hsa-miR-1228	CLIP-seq
MIRT2570645	hsa-miR-1233	CLIP-seq
MIRT2570646	hsa-miR-1236	CLIP-seq
MIRT2570647	hsa-miR-1237	CLIP-seq
MIRT2570648	hsa-miR-1238	CLIP-seq
MIRT2684982	hsa-miR-1248	CLIP-seq
MIRT2684983	hsa-miR-1254	CLIP-seq
MIRT2271684	hsa-miR-125a-3p	CLIP-seq
MIRT2570649	hsa-miR-129-5p	CLIP-seq
MIRT1147532	hsa-miR-1303	CLIP-seq
MIRT1147533	hsa-miR-135a	CLIP-seq
MIRT1147534	hsa-miR-135b	CLIP-seq
MIRT1147535	hsa-miR-143	CLIP-seq
MIRT2570650	hsa-miR-146b-3p	CLIP-seq
MIRT1147536	hsa-miR-148a	CLIP-seq
MIRT1147537	hsa-miR-148b	CLIP-seq
MIRT1147538	hsa-miR-152	CLIP-seq
MIRT2271685	hsa-miR-155	CLIP-seq
MIRT2271686	hsa-miR-221	CLIP-seq
MIRT2271687	hsa-miR-222	CLIP-seq
MIRT2570651	hsa-miR-2355-3p	CLIP-seq
MIRT2570652	hsa-miR-302f	CLIP-seq
MIRT2570653	hsa-miR-3064-3p	CLIP-seq
MIRT2684984	hsa-miR-3116	CLIP-seq
MIRT1147539	hsa-miR-3121-5p	CLIP-seq
MIRT1147540	hsa-miR-3123	CLIP-seq
MIRT2570654	hsa-miR-3140-3p	CLIP-seq
MIRT1147541	hsa-miR-3148	CLIP-seq
MIRT2570655	hsa-miR-3160-5p	CLIP-seq
MIRT2684985	hsa-miR-3174	CLIP-seq
MIRT2570656	hsa-miR-3179	CLIP-seq
MIRT1147542	hsa-miR-3180	CLIP-seq
MIRT1147543	hsa-miR-3180-3p	CLIP-seq
MIRT2570657	hsa-miR-3194-5p	CLIP-seq
MIRT1147544	hsa-miR-3196	CLIP-seq
MIRT2570658	hsa-miR-338-5p	CLIP-seq
MIRT1147545	hsa-miR-342-5p	CLIP-seq
MIRT2271688	hsa-miR-3607-3p	CLIP-seq
MIRT2570659	hsa-miR-3613-3p	CLIP-seq
MIRT2570660	hsa-miR-3646	CLIP-seq
MIRT2271689	hsa-miR-3686	CLIP-seq
MIRT2041980	hsa-miR-3688-3p	CLIP-seq
MIRT2041981	hsa-miR-3924	CLIP-seq
MIRT1147547	hsa-miR-3925-5p	CLIP-seq
MIRT2570661	hsa-miR-3927	CLIP-seq
MIRT2271690	hsa-miR-3934	CLIP-seq
MIRT1147548	hsa-miR-3936	CLIP-seq
MIRT1147549	hsa-miR-3944-5p	CLIP-seq
MIRT2570662	hsa-miR-3972	CLIP-seq
MIRT2271691	hsa-miR-410	CLIP-seq
MIRT2684986	hsa-miR-4252	CLIP-seq
MIRT2570663	hsa-miR-4264	CLIP-seq
MIRT2684987	hsa-miR-4297	CLIP-seq
MIRT2570664	hsa-miR-4307	CLIP-seq
MIRT2570665	hsa-miR-4311	CLIP-seq
MIRT1147550	hsa-miR-4325	CLIP-seq
MIRT2570666	hsa-miR-4328	CLIP-seq
MIRT1147551	hsa-miR-4418	CLIP-seq
MIRT2570667	hsa-miR-4451	CLIP-seq
MIRT1147552	hsa-miR-4488	CLIP-seq
MIRT2570668	hsa-miR-4496	CLIP-seq
MIRT2271692	hsa-miR-4522	CLIP-seq
MIRT2271693	hsa-miR-4525	CLIP-seq
MIRT2570669	hsa-miR-4645-3p	CLIP-seq
MIRT2570670	hsa-miR-4646-3p	CLIP-seq
MIRT2271694	hsa-miR-4652-3p	CLIP-seq
MIRT2570671	hsa-miR-4659a-3p	CLIP-seq
MIRT2570672	hsa-miR-4659b-3p	CLIP-seq
MIRT1147553	hsa-miR-4664-5p	CLIP-seq
MIRT1147554	hsa-miR-4667-5p	CLIP-seq
MIRT2570673	hsa-miR-4668-3p	CLIP-seq
MIRT1147555	hsa-miR-4668-5p	CLIP-seq
MIRT2570674	hsa-miR-4691-5p	CLIP-seq
MIRT1147556	hsa-miR-4697-5p	CLIP-seq
MIRT2271695	hsa-miR-4700-3p	CLIP-seq
MIRT1147557	hsa-miR-4700-5p	CLIP-seq
MIRT2684988	hsa-miR-4701-5p	CLIP-seq
MIRT2041983	hsa-miR-4705	CLIP-seq
MIRT2684989	hsa-miR-4715-3p	CLIP-seq
MIRT2271696	hsa-miR-4716-3p	CLIP-seq
MIRT1147560	hsa-miR-4725-5p	CLIP-seq
MIRT2570675	hsa-miR-4742-3p	CLIP-seq
MIRT2570676	hsa-miR-4753-3p	CLIP-seq
MIRT2684990	hsa-miR-4765	CLIP-seq
MIRT2570677	hsa-miR-4768-5p	CLIP-seq
MIRT1147561	hsa-miR-4770	CLIP-seq
MIRT2570678	hsa-miR-4776-3p	CLIP-seq
MIRT2570679	hsa-miR-4777-5p	CLIP-seq
MIRT2041984	hsa-miR-4781-3p	CLIP-seq
MIRT2041985	hsa-miR-4795-3p	CLIP-seq
MIRT1147563	hsa-miR-504	CLIP-seq
MIRT1147564	hsa-miR-509-3-5p	CLIP-seq
MIRT2684991	hsa-miR-5095	CLIP-seq
MIRT1147565	hsa-miR-509-5p	CLIP-seq
MIRT2570680	hsa-miR-518d-5p	CLIP-seq
MIRT2570681	hsa-miR-519b-5p	CLIP-seq
MIRT2570682	hsa-miR-519c-5p	CLIP-seq
MIRT2570683	hsa-miR-520c-5p	CLIP-seq
MIRT2570684	hsa-miR-526a	CLIP-seq
MIRT2271698	hsa-miR-548v	CLIP-seq
MIRT2684992	hsa-miR-550a	CLIP-seq
MIRT2684993	hsa-miR-552	CLIP-seq
MIRT2271699	hsa-miR-568	CLIP-seq
MIRT2684994	hsa-miR-588	CLIP-seq
MIRT1147566	hsa-miR-629	CLIP-seq
MIRT1147567	hsa-miR-637	CLIP-seq
MIRT2570685	hsa-miR-642a	CLIP-seq
MIRT2684995	hsa-miR-644	CLIP-seq
MIRT2684996	hsa-miR-661	CLIP-seq
MIRT2684997	hsa-miR-663b	CLIP-seq
MIRT2271700	hsa-miR-764	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
JUN	Unknown	11425864

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001502	Process	Cartilage condensation	TAS	9916809
GO:0001503	Process	Ossification	IEA
GO:0005201	Function	Extracellular matrix structural constituent	RCA	20551380, 23979707, 27068509, 27559042
GO:0005509	Function	Calcium ion binding	IEA
GO:0005515	Function	Protein binding	IPI	15607035
GO:0008147	Function	Structural constituent of bone	TAS	9916809
GO:0030154	Process	Cell differentiation	IEA
GO:0030500	Process	Regulation of bone mineralization	IEA
GO:0031012	Component	Extracellular matrix	IBA	21873635
GO:0062023	Component	Collagen-containing extracellular matrix	HDA	23979707, 27068509, 27559042
GO:0062023	Component	Collagen-containing extracellular matrix	HDA	20551380
GO:0070062	Component	Extracellular exosome	HDA	19199708

Other IDs

• MIM: 154870
• HGNC: 7060
• e!Ensembl: ENSG00000111341

Protein

• UniProt ID: P08493
• Protein name: Matrix Gla protein (MGP) (Cell growth-inhibiting gene 36 protein)
• Protein function: Associates with the organic matrix of bone and cartilage. Thought to act as an inhibitor of bone formation.
• Sequence:

  MKSLILLAILAALAVVTLCYESHESMESYELNPFINRRNANTFISPQQRWRAKVQERIRE
  RSKPVHELNREACDDYRLCERYAMVYGYNAAYNRYFRKRRGTK

• Sequence length: 103

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Carcinoma	Carcinoma, Carcinoma, Spindle-Cell, Undifferentiated carcinoma	rs121912654, rs555607708, rs786202962, rs1564055259	16316942, 12376462, 12376462, 16316942
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074
Hypertension	Hypertensive disease	rs13306026, rs13333226
Keutel syndrome	Keutel syndrome	rs730880321, rs112518413, rs730880322, rs111320759	15810001, 21705322, 9916809
Mental retardation	Mild Mental Retardation	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315, rs121918316, rs397515320, rs121434489, rs1585215916, rs267607233, rs267606752, rs137852214, rs606231193, rs132630297, rs80338758, rs137852815, rs122455132, rs28935171, rs122453113, rs122445108, rs28934904, rs28934908, rs28935468, rs61748421, rs121918624, rs202060209, rs80338708, rs113994198, rs199422192, rs387906635, rs1554770064, rs1057519611, rs1060499526, rs387906636, rs1057519612, rs281875189, rs281875322, rs387906799, rs387906804, rs875989800, rs797045262, rs387906845, rs387906846, rs876657378, rs281875227, rs281875228, rs281875229, rs281875230, rs387906861, rs370667926, rs387906932, rs387906943, rs1557612719, rs387907190, rs387907191, rs2126499522, rs587776908, rs1560982564, rs80359505, rs398123009, rs587776929, rs587776930, rs397514555, rs398122824, rs398122825, rs397514556, rs2147483647, rs587776937, rs397514627, rs397514655, rs397514656, rs730882192, rs1587520018, rs1581995953, rs1554121970, rs1581987445, rs397514670, rs376395543, rs137854128, rs397509411, rs397509412, rs397514741, rs398122394, rs879255516, rs397518483, rs398122406, rs398122412, rs398123561, rs200667343, rs587777162, rs587777202, rs62507350, rs587777219, rs587777225, rs587777226, rs587779750, rs587777326, rs587777334, rs281875332, rs587780470, rs587780474, rs587780486, rs587777378, rs587777406, rs587777408, rs587777409, rs587777411, rs587777522, rs527236034, rs527236035, rs267608571, rs267608382, rs267608597, rs61753979, rs61751444, rs267608493, rs587777644, rs587777645, rs587777646, rs587777703, rs587779388, rs606231266, rs606231267, rs672601340, rs606231268, rs672601341, rs606231269, rs672601342, rs606231270, rs606231271, rs606231272, rs606231273, rs587784566, rs587784092, rs587783749, rs587783747, rs587783640, rs587783483, rs606231456, rs606231457, rs606231458, rs606231459, rs672601370, rs672601369, rs672601371, rs672601367, rs672601366, rs672601365, rs672601364, rs672601363, rs672601362, rs672601376, rs672601377, rs672601378, rs724159949, rs724159950, rs724159948, rs724159956, rs724159953, rs727502860, rs727502861, rs730882197, rs749995448, rs786205143, rs794726770, rs1135401808, rs786205583, rs786205595, rs786205859, rs794727792, rs794727928, rs794729221, rs797044519, rs797044523, rs797044521, rs797044524, rs797044526, rs797044522, rs797044520, rs794727642, rs796052719, rs781746113, rs796052510, rs796052733, rs796052724, rs796052728, rs796052676, rs796053353, rs796053366, rs796053368, rs1555103986, rs1555110818, rs796052571, rs1555110843, rs796052626, rs796052618, rs796053290, rs796052217, rs672601368, rs797045164, rs797044961, rs797044962, rs200070245, rs797044963, rs869320675, rs869320676, rs797045012, rs752746786, rs797044885, rs797044925, rs797044854, rs797044849, rs797044930, rs797044901, rs797044918, rs797044884, rs797045177, rs797045178, rs797045050, rs797045036, rs797045053, rs797045047, rs797045037, rs797045042, rs797045041, rs879255261, rs782397980, rs797045263, rs797045264, rs797045655, rs797045586, rs545185248, rs797046031, rs797046028, rs797046029, rs797046030, rs797045249, rs797045529, rs797045952, rs797045984, rs797045540, rs797045539, rs797045989, rs863224930, rs869025202, rs863225264, rs863225077, rs876661308, rs869025222, rs864309560, rs758252808, rs745756308, rs869025286, rs869025287, rs869025578, rs143038880, rs869025579, rs869025580, rs869025581, rs869312704, rs869312674, rs869312677, rs869312689, rs869312693, rs869312698, rs869312708, rs869312711, rs869312826, rs869312825, rs869312824, rs869312823, rs758432471, rs869312821, rs761993070, rs869312844, rs869312842, rs869312843, rs869312841, rs869312847, rs869320632, rs869312955, rs773432002, rs869320713, rs869320772, rs869320773, rs879255270, rs875989848, rs875989849, rs1716457622, rs2108414289, rs878854401, rs875989786, rs1085307109, rs1085307108, rs876657679, rs876661167, rs876661076, rs876661055, rs876661219, rs876661064, rs876661151, rs876661041, rs200440467, rs876661295, rs878853045, rs878853143, rs878853142, rs878853149, rs1555910048, rs878853152, rs878853146, rs878853145, rs878853141, rs878853151, rs878853144, rs878853148, rs878853147, rs878853251, rs878853269, rs879253762, rs886037841, rs879253888, rs879253931, rs879254016, rs879255618, rs879255619, rs879255620, rs886037847, rs879255621, rs886039332, rs746177928, rs886039520, rs886041003, rs886041058, rs750035706, rs886041059, rs886041060, rs886041061, rs886041090, rs886041088, rs886041089, rs886041095, rs886041097, rs886041989, rs886041944, rs886041692, rs886041593, rs886041687, rs886041207, rs886041309, rs886041239, rs886041448, rs138336847, rs149644940, rs886041295, rs886041521, rs886041125, rs886042041, rs886041238, rs886041469, rs886041197, rs886041291, rs886041658, rs886041705, rs886041876, rs139716296, rs1057516030, rs1057517408, rs749655461, rs141179774, rs370916968, rs1057517676, rs1057517933, rs1057517708, rs1057518352, rs1057518183, rs1057518474, rs1057518204, rs1057517825, rs1057518796, rs1057518961, rs1057518772, rs1057518988, rs1057519004, rs1057518700, rs772450541, rs371310428, rs1057519019, rs1057519491, rs1057519546, rs1057519560, rs1057519565, rs1057519400, rs1057519402, rs1057519405, rs1057519593, rs1057519594, rs1057519628, rs1556912828, rs1060505029, rs1060505030, rs147001633, rs1057519947, rs1057519617, rs1057524832, rs774592932, rs797045045, rs1039571136, rs1555910821, rs1060499626, rs1060499655, rs1554770185, rs1060499936, rs1060501153, rs1060501151, rs1064792984, rs1060503378, rs1060503386, rs1060503383, rs1060500046, rs1064792999, rs1060505033, rs1064796564, rs1064797002, rs1064793161, rs150802299, rs1064796830, rs1064794996, rs1064795444, rs1064796034, rs1064796403, rs1064794979, rs1064796765, rs1064793539, rs760933323, rs1064793546, rs1064796406, rs1064796367, rs780441716, rs1064794894, rs1064796023, rs1064797355, rs1085307484, rs1064794935, rs1085307547, rs1131690804, rs757511770, rs1131691875, rs1131691979, rs398122823, rs1131691866, rs1131692159, rs1131692228, rs1131692154, rs113331868, rs1554121872, rs1554121875, rs926027867, rs1554122123, rs1554122129, rs1287121256, rs1554122526, rs1554123982, rs1554385102, rs1554385111, rs1554385305, rs1554386687, rs1554389088, rs1554402092, rs1554434435, rs1135401778, rs1135401760, rs1135401770, rs1135401771, rs1135401768, rs1135401779, rs1135401805, rs1135401797, rs1135401799, rs1135401816, rs1135401823, rs1135401824, rs1555769968, rs1135401825, rs1135401955, rs1135401956, rs1135401957, rs1135401958, rs1554129040, rs1554150543, rs1553188463, rs1553146165, rs1485978447, rs1361547443, rs750079325, rs369692236, rs1554231836, rs749188610, rs1554122735, rs1554689877, rs1174482090, rs781053477, rs1554623112, rs1555409836, rs1555411305, rs770014321, rs1555984461, rs1555990958, rs762292772, rs1554944271, rs1057524157, rs1485749468, rs1555984343, rs1293450628, rs373584239, rs1553722309, rs1553738686, rs1376334317, rs1553722294, rs1553283831, rs1554120589, rs1555985554, rs1555877287, rs1555411378, rs750922282, rs1553264873, rs1554263326, rs1554264268, rs1554263626, rs1554263625, rs766614772, rs1553620494, rs1555050158, rs1555050165, rs1555050171, rs1555050174, rs765556214, rs1402086660, rs1554645052, rs1555661648, rs1293246328, rs749494995, rs775592405, rs1553265189, rs1553242856, rs1553247374, rs1553241570, rs1553997065, rs1553998565, rs1380822792, rs1555028154, rs1555023232, rs1553194155, rs1553130904, rs1553152590, rs1553567864, rs1553638614, rs120074160, rs1554486894, rs1554767754, rs1554843977, rs1555443581, rs1555443600, rs1555439545, rs1555525088, rs770680174, rs1555889130, rs373178770, rs1555985532, rs1553519853, rs781325598, rs1410587479, rs1553638086, rs150259543, rs1554093891, rs1554121228, rs1554120498, rs1554121189, rs1212517874, rs1554770628, rs1555979158, rs1554770054, rs771610568, rs1451230055, rs1554770624, rs1555906707, rs1555906768, rs1555906781, rs1555907620, rs1555907623, rs1555907626, rs1555907653, rs1555907864, rs1554094145, rs1554202698, rs1554200722, rs773327091, rs1555607621, rs1555604778, rs1555607159, rs1555607682, rs1553364018, rs1553324416, rs1555411394, rs1554102556, rs1554122363, rs1555705966, rs1555103971, rs1555408401, rs1554461593, rs1554304254, rs1554120978, rs1047509819, rs1555982601, rs767774867, rs1554789246, rs1555111511, rs1555950676, rs1555954380, rs1555985649, rs1553194162, rs1553518509, rs1274633498, rs1554274371, rs1554122252, rs1554122458, rs1554122729, rs1554297905, rs1554776342, rs1554770046, rs1554770667, rs1554792556, rs1452715535, rs1555444885, rs1555534147, rs1427624649, rs1555611722, rs1555744282, rs1555706391, rs1178702025, rs1555984102, rs1554770589, rs1554121443, rs1559791842, rs1559824939, rs1555889127, rs1236702036, rs1553510280, rs1553511175, rs1553511226, rs1554150552, rs1554275163, rs1554201137, rs1553517991, rs1553518511, rs1553517984, rs1553518752, rs1554119814, rs1554122293, rs1554122341, rs1554122689, rs1554770243, rs1554770444, rs1557045250, rs959316981, rs1556270312, rs1553270640, rs978179634, rs1554093884, rs1491240980, rs1555943484, rs1554121453, rs1334099693, rs1554048616, rs1555660806, rs1555644480, rs1555651572, rs1567844992, rs1567855081, rs1567855669, rs1567855704, rs1567856045, rs1567856331, rs1567860075, rs1567860112, rs1567860640, rs1567860891, rs754919272, rs1567860919, rs1567861468, rs1567861489, rs1567861501, rs1567861894, rs1567863732, rs1567864750, rs1567877108, rs1567878511, rs758785463, rs1553808301, rs1553245038, rs1553789166, rs1553813646, rs1553631860, rs1554121265, rs1554770262, rs1555034768, rs1555984433, rs779009256, rs1553994814, rs1553996086, rs1553996072, rs1553270599, rs1553153291, rs760262127, rs1554119274, rs1554121878, rs1554387293, rs1554385203, rs757077698, rs750612085, rs1554776500, rs1564360978, rs1554776933, rs1554776938, rs1565278132, rs1567368243, rs1558478047, rs375695605, rs1558479778, rs1558501648, rs1565240833, rs114727354, rs1557591264, rs1557620758, rs1559099927, rs1561788984, rs369459721, rs1563831738, rs1562159088, rs1562159562, rs1562159599, rs1559094754, rs1559328283, rs755634856, rs1561784687, rs1554122296, rs1561789313, rs1562720119, rs1564363665, rs1561697465, rs1561785003, rs1561787845, rs1561789215, rs1554122305, rs1561784553, rs1561784560, rs1561787690, rs1554122888, rs749632782, rs1567139896, rs1569370887, rs1569371303, rs1564493599, rs1561875779, rs1569146542, rs1569146649, rs1275489527, rs1560115921, rs1468772495, rs749969789, rs1560108090, rs1569376809, rs1569355102, rs1560103306, rs1564365418, rs1559855453, rs1562928193, rs1558149913, rs1253072668, rs141976414, rs1558371790, rs1557898800, rs1567758622, rs1567844041, rs1567844114, rs1567920106, rs1567920209, rs138247472, rs1567974030, rs1567995650, rs1283838287, rs1568003569, rs1568006217, rs1568018905, rs1562505675, rs1561783309, rs1555980234, rs1559087186, rs1560966086, rs1560330387, rs769471341, rs1562493608, rs1562505335, rs1554121861, rs1554122200, rs1562957809, rs1568097623, rs1391600900, rs1568234874, rs1568235086, rs1555990955, rs1567870541, rs1557570794, rs1562869207, rs1571818248, rs1431778557, rs369691608, rs1595808957, rs1597665063, rs1597846084, rs1603401125, rs1603350606, rs1601946481, rs1601932069, rs1602880906, rs1602308324, rs1574554519, rs1573882268, rs1603198937, rs1558148010, rs1558498928, rs1569459580, rs1569380375, rs1560062082, rs1557889974, rs1558414255, rs756429763, rs781663444, rs1569016820, rs1569017025, rs1569017160, rs1557612048, rs1568504941, rs1581987022, rs1576983339, rs1599892470, rs1265340906, rs1602284689, rs1574949440, rs1576220938, rs1576280892, rs1576288424, rs1574459612, rs1574511051, rs1575654528, rs1577094794, rs1294683568, rs771819481, rs1580984895, rs1581338441, rs1580988138, rs1581980317, rs1581986872, rs1554121207, rs1581987268, rs1581987476, rs1581987885, rs763770519, rs1581991929, rs1581992099, rs1581992998, rs1581995453, rs1554122242, rs1581996778, rs1581997228, rs1588735247, rs1555980467, rs1555985742, rs1601319086, rs1601970168, rs1574451881, rs876661168, rs1576994053, rs1573589807, rs1581036396, rs1601267617, rs1572531830, rs1573483715, rs1590954686, rs1601315812, rs1573965358, rs1573972562, rs529087882, rs1570609440, rs1598940393, rs1575333081, rs1576028676, rs1596476657, rs1599375711, rs1603290366, rs1603060007, rs1603069440, rs1592939069, rs1591612223, rs2062994512, rs373701249, rs1600471396, rs1600501018, rs1600504088, rs1600514073, rs748436953, rs765723607, rs758170522, rs1561785045, rs1357591960, rs1591609136, rs1596891223, rs1579370234, rs2047850664, rs1579109565, rs1870202051, rs1574887674, rs778229060, rs1572531281, rs1570622663, rs1573501865, rs1576086299, rs1576164991, rs1574907198, rs1576656734, rs1554121438, rs1581995425, rs1581996813, rs1582001015, rs1588324025, rs1591371152, rs1590008294, rs1590956245, rs1590028691, rs1591606580, rs1591611001, rs1591612317, rs1591612370, rs763436882, rs997044541, rs1595897117, rs747706524, rs1579377990, rs1201878175, rs1894051550, rs1572531730, rs1579576029, rs1577017863, rs752545577, rs1582461267, rs1589460606, rs1588727276, rs1598620094, rs1599368323, rs1600082188, rs1601319352, rs1598226304, rs2076013475, rs2076017638, rs1600596180, rs1554121932, rs1680676671, rs1570607996, rs1382444181, rs1570640673, rs1574994308, rs1596667777, rs1602226289, rs1595629181, rs1595609005, rs1227643933, rs1572705473, rs1570621899, rs1722830922, rs1575094649, rs1417035592, rs1581997098, rs1589457762, rs1598211790, rs758726258, rs1601071971, rs863224922, rs1586692481, rs1586692548, rs1586692551, rs1580988074, rs1594129609, rs1588732344, rs1579368865, rs1586660389, rs1586660370, rs1586660338, rs1586657848, rs1586660381, rs1791701214, rs752676391, rs1680673822, rs758098717, rs1726676630, rs762288077, rs1759964009, rs1760905766, rs1761021165, rs1554121934, rs2055849544, rs1049773, rs587784300, rs1861628072, rs1761241410, rs1064797322, rs1948652423, rs2059194330, rs1777174302, rs2054280202, rs2081190512, rs772665884, rs1400164869, rs1861593395, rs1760897843, rs1761087122, rs1388355040, rs2068797192, rs1777175608, rs376898131
Optic atrophy	Optic Atrophy	rs121434508, rs267607017, rs80356524, rs80356525, rs879255560, rs104893753, rs80356529, rs397515360, rs104893620, rs199476104, rs199476112, rs199476118, rs398124298, rs770066665, rs398124299, rs61750185, rs672601379, rs727504060, rs786204830, rs794727804, rs199946797, rs863224127, rs863224131, rs863224134, rs863224906, rs372054380, rs886037828, rs764791523, rs145639028, rs1057519312, rs1064794257, rs1064794656, rs1064797303, rs774265764, rs760337383, rs1553784985, rs72653786, rs1555229948, rs1555119216, rs761743852, rs1553785338, rs1020764190, rs782581701, rs1560408865, rs761460379, rs773022324, rs782740998, rs1560327427, rs80356528, rs1734162973, rs1716524583, rs1057368575
Pulmonary arterial hypertension	Pulmonary arterial hypertension, Idiopathic pulmonary arterial hypertension	rs121909288, rs137852741, rs137852742, rs137852743, rs137852744, rs137852745, rs137852746, rs137852748, rs137852749, rs137852750, rs137852751, rs137852753, rs863223423, rs863223426, rs863223424, rs863223408, rs869025366, rs876657748, rs886039506, rs886041324, rs1060502576, rs1060502581, rs1060502584, rs1085307149, rs1085307154, rs1085307157, rs1085307163, rs1085307169, rs1085307177, rs1085307180, rs1085307184, rs1085307188, rs1085307191, rs1085307203, rs1085307222, rs1085307223, rs1085307225, rs1085307229, rs1085307234, rs1085307246, rs1085307261, rs1085307267, rs576091247, rs200948870, rs1085307278, rs1085307282, rs1085307285, rs1085307290, rs1085307301, rs1085307306, rs1085307307, rs1085307308, rs1085307315, rs1085307316, rs1553509997, rs1085307324, rs1085307340, rs1085307349, rs1085307352, rs765887545, rs1085307183, rs1555208696, rs1592224412, rs1574415785, rs1574415799, rs1574462520, rs1085307197, rs1574464060, rs749485755, rs1574464121, rs1574464150, rs1574464160, rs1085307214, rs1574485996, rs1574486497, rs1574486566, rs1574488314, rs1574488346, rs1574488353, rs1574488357, rs1574488412, rs1414031345, rs1574488484, rs1574488490, rs863223419, rs1574489046, rs1574494632, rs1574494655, rs1574500018, rs1574505253, rs1574505321, rs371174955, rs1574506729, rs1574506732, rs1574506781, rs1574506790, rs1574506799, rs1574506914, rs1574506976, rs1574507076, rs1574507124, rs1574507215, rs1574507268, rs1574507272, rs1574507276, rs1574507290, rs1574507331, rs398123042, rs374644720, rs1588573831, rs1592222308, rs1592223392, rs756315327, rs1603248167, rs1397811125, rs1603255267, rs1603255327, rs1603255336, rs1603255339, rs754897911, rs1603256095, rs1085307155, rs1085307156, rs1574464226, rs1085307226, rs1574486038, rs1553508321, rs1574488277, rs1574488501, rs1574493841, rs1574499954
Ventricular septal defect	Ventricular Septal Defects	rs104894073, rs387906775

Unknown
Disease name	Disease term	dbSNP ID	References
Alopecia	Alopecia
Anaplastic carcinoma	Anaplastic carcinoma		16316942, 12376462
Bronchitis	Recurrent bronchitis
Congenital atresia of trachea	Congenital atresia of trachea
Congenital hypoplasia of pulmonary artery	Congenital hypoplasia of pulmonary artery
Dwarfism	Dwarfism
Hypoplasia of thumb	Hypoplasia of thumb
Lung diseases	Lung Diseases, Obstructive
Macrotia	Macrotia
Miscarriage	Miscarriage		18539642
Otitis media	Recurrent otitis media	rs601338, rs1047781, rs1800028
Peripheral pulmonary artery stenosis	Peripheral pulmonary artery stenosis
Pulmonary stenosis	Pulmonary Stenosis
Sinusitis	Sinusitis, Chronic sinusitis, Recurrent sinusitis
Uremia	Uremia		19092814
Vulval varices	Varicosity		17643059