MGP (matrix Gla protein)

Gene

• Entrez ID: 4256
• Gene name: Matrix Gla protein
• Gene symbol: MGP
• Synonyms (NCBI Gene): 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:0001503	Process	Ossification	TAS	9916809
GO:0005201	Function	Extracellular matrix structural constituent	RCA	20551380, 23979707, 27068509, 27559042
GO:0005201	Function	Extracellular matrix structural constituent	TAS	9916809
GO:0005509	Function	Calcium ion binding	IEA
GO:0005515	Function	Protein binding	IPI	15607035
GO:0005576	Component	Extracellular region	IEA
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	HDA	20551380
GO:0031012	Component	Extracellular matrix	HDA	23979707, 27068509, 27559042
GO:0031012	Component	Extracellular matrix	IBA
GO:0031012	Component	Extracellular matrix	IEA
GO:0031012	Component	Extracellular matrix	TAS	9916809
GO:0048731	Process	System development	IEA
GO:0051216	Process	Cartilage development	IEA
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

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)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Keutel syndrome	Pathogenic; Likely pathogenic	rs730880321, rs112518413, rs730880322, rs111320759	RCV000015415 RCV000015416 RCV000015417 RCV000015418	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
AORTIC VALVE DISEASE 1	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARTERIOSCLEROSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BICUSPID AORTIC VALVE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BICUSPID AORTIC VALVE DISEASE	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, EXPERIMENTAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MGP-related disorder	Benign; Likely benign; Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL INFARCTION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, HAND	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Platyspondyly	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Short distal phalanx of finger	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Short palm	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Short stature	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spondyloepiphyseal dysplasia	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
UREMIA	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VARICOSE VEINS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VARICOSITY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VASCULAR CALCIFICATION	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma	Adenocarcinoma	BEFREE	11248420		★☆☆☆☆ Found in Text Mining only
Alopecia	Alopecia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anaplastic carcinoma	Anaplastic Carcinoma	CTD_human_DG	12376462, 16316942		★☆☆☆☆ Found in Text Mining only
Aortic valve calcification	Aortic valve calcification	BEFREE	19350115		★☆☆☆☆ Found in Text Mining only
Aortic Valve Calcification of	Aortic valve disease	Pubtator	25990696	Associate	★☆☆☆☆ Found in Text Mining only
Aortic Valve Calcification of	Aortic valve disease	Pubtator	29653899	Inhibit	★☆☆☆☆ Found in Text Mining only
Aortic valve disorder	Aortic Valve Disease	BEFREE	19350115		★☆☆☆☆ Found in Text Mining only
Aortic Valve Stenosis	Aortic valve stenosis	Pubtator	29653899	Associate	★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	10807741, 15744522, 17074310, 28275304, 28654853, 28734846		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Astrocytoma	Astrocytoma	Pubtator	12937144	Associate	★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	10807741, 17074310, 28275304, 28654853, 28734846		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	15864013, 21143859, 23307874	Associate	★☆☆☆☆ Found in Text Mining only
beta Thalassemia	Beta thalassemia	Pubtator	23899606	Associate	★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone disease	Pubtator	25354236	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	2216462, 23158478, 27009385, 28975977, 31261495, 31264274, 31317787, 8319825		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	27009385, 28975977, 31261495, 37307958	Associate	★☆☆☆☆ Found in Text Mining only
Calcinosis	Calcinosis	Pubtator	15864013, 21143859, 23899606, 28192277, 28212442, 31852220, 8200973	Associate	★☆☆☆☆ Found in Text Mining only
Calcinosis	Calcinosis	Pubtator	16505034, 17724449, 17848178, 20133489, 21628633, 22796540, 23563003, 24586847, 25123378, 25871831, 27009385, 29653899, 30257426, 39684309	Inhibit	★☆☆☆☆ Found in Text Mining only
Cancer Pain	Cancer	Pubtator	28231844	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	37307958	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	CTD_human_DG	12376462, 16316942		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinoma	Carcinoma	BEFREE	1399132, 17960611		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinoma Basal Cell	Basal cell carcinoma	Pubtator	17273163	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	35286894	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Spindle-Cell	Carcinoma	CTD_human_DG	12376462, 16316942		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	18841280, 19692494, 28356433, 28654853, 29635270, 30304721, 30717170, 31529295, 31538831		★☆☆☆☆ Found in Text Mining only
Cartilage Diseases	Cartilage disease	Pubtator	15864013, 19712474, 28855172, 34412027	Inhibit	★☆☆☆☆ Found in Text Mining only
Cartilage Diseases	Cartilage disease	Pubtator	25123378, 35412619, 39684309	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Ischemic stroke	Pubtator	28411264, 32584873	Associate	★☆☆☆☆ Found in Text Mining only
Chronic kidney disease stage 3	Kidney Disease	BEFREE	16210837		★☆☆☆☆ Found in Text Mining only
Chronic kidney disease stage 5	Kidney Disease	BEFREE	16210837, 29981754		★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	16210837, 21859400, 30726855, 30863424, 30934817, 31222647, 31836502		★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	31357639		★☆☆☆☆ Found in Text Mining only
Chronic sinusitis	Sinusitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	29880866		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	11248420, 31589964		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	28058013	Associate	★☆☆☆☆ Found in Text Mining only
Congenital arteriovenous malformation	Congenital Arteriovenous Malformation	BEFREE	21765215		★☆☆☆☆ Found in Text Mining only
Congenital atresia of trachea	Congenital Atresia Of Trachea	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of pulmonary artery	Congenital Hypoplasia Of Pulmonary Artery	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	29529056, 30554193		★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	1399132		★☆☆☆☆ Found in Text Mining only
Corneal Diseases	Corneal disease	Pubtator	32602245	Associate	★☆☆☆☆ Found in Text Mining only
Corneal Dystrophy Crystalline of Schnyder	Corneal dystrophy	Pubtator	32602245	Associate	★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	11073842, 23307874, 24445527, 31103344		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	11073842, 24445527, 31103344		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	19352064, 23307874	Associate	★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	34315328	Inhibit	★☆☆☆☆ Found in Text Mining only
Coronary Disease	Coronary artery disease	Pubtator	31103344	Associate	★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	11073842, 24445527, 31103344		★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	LHGDN	16973975		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	29880866		★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	21724703, 28855172, 31215457		★☆☆☆☆ Found in Text Mining only
Dental Caries	Dental caries	Pubtator	15869869	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	23852538, 27927630, 28654853		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	21859400	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	23852538, 25893345, 27927630, 28654853		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	21143859	Stimulate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	27927630		★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	28734846		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Epiretinal Membrane	Epiretinal Membrane	BEFREE	31284311		★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	BEFREE	16505034, 27593913		★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	Pubtator	16505034	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	12937144, 19712474	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	19712474, 23132729		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	19712474, 23132729		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	19712474, 28707070		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	38171932	Associate	★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	29529056, 30554193		★☆☆☆☆ Found in Text Mining only
Hepatitis B	Hepatitis b	Pubtator	28975977	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary breast and ovarian cancer syndrome	Pubtator	39684309	Associate	★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin Disease	BEFREE	16210837, 30847765		★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	16210837, 30847765		★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	28356433, 30033123		★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypertrophy	Hypertrophy	Pubtator	40443657	Associate	★☆☆☆☆ Found in Text Mining only
Hypoplasia of thumb	Hypoplasia Of Thumb	HPO_DG			★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	HPO_DG			★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	29303380		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	31238825		★☆☆☆☆ Found in Text Mining only
Intervertebral Disc Degeneration	Intervertebral Disc Degeneration	BEFREE	25893345		★☆☆☆☆ Found in Text Mining only
Intervertebral Disc Degeneration	Intervertebral disc disease	Pubtator	35409356	Associate	★☆☆☆☆ Found in Text Mining only
Keutel syndrome	Keutel Syndrome	BEFREE	15810001, 25123378, 9916809		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Keutel syndrome	Keutel Syndrome	GENOMICS_ENGLAND_DG	15810001, 9916809		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Keutel syndrome	Keutel Syndrome	ORPHANET_DG	15810001, 9916809		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Keutel syndrome	Keutel Syndrome	CTD_human_DG	21705322		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Keutel syndrome	Keutel Syndrome	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Keutel syndrome	Keutel Syndrome	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Kidney Calculi	Kidney stone	BEFREE	17509359, 23046575, 28340119, 31222647		★☆☆☆☆ Found in Text Mining only
Kidney Calculi	Kidney stone	LHGDN	17509359		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	LHGDN	16210837		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	28734846		★☆☆☆☆ Found in Text Mining only
Kidney Failure Chronic	Kidney failure	Pubtator	21859400	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Failure, Chronic	Kidney Failure	BEFREE	16210837, 29981754		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver cirrhosis	Pubtator	35159124	Associate	★☆☆☆☆ Found in Text Mining only
Lung Diseases, Obstructive	Lung Diseases	HPO_DG			★☆☆☆☆ Found in Text Mining only
Macrotia	Macrotia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	2216462, 23158478, 27009385, 28975977, 31261495, 31264274, 31317787, 8319825		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	11248420, 1399132, 27009385, 30257426, 31589964		★☆☆☆☆ Found in Text Mining only
Malnutrition	Malnutrition	BEFREE	31538831		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	14726712		★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	Pubtator	37515398	Associate	★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	20032990		★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic syndrome	Pubtator	37019912	Associate	★☆☆☆☆ Found in Text Mining only
Mild Mental Retardation	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Miscarriage	Miscarriage	CTD_human_DG	18539642		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	11073842, 23307874, 23677904		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myocardial Infarction	Myocardial infarction	Pubtator	23307874	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myocardial Ischemia	Myocardial ischemia	Pubtator	21143859	Stimulate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	11248420, 1399132, 23132729, 27556859, 28707070, 31328442		★☆☆☆☆ Found in Text Mining only
Nephrolithiasis	Nephrolithiasis	BEFREE	17509359, 23046575, 28340119, 31222647		★☆☆☆☆ Found in Text Mining only
Nephrotic Syndrome	Nephrotic Syndrome	BEFREE	29981754		★☆☆☆☆ Found in Text Mining only
Oestrogen receptor positive breast cancer	Oestrogen Receptor Positive Breast Cancer	BEFREE	28975977		★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	21724703, 28855172, 31215457, 33984465, 34412027	Associate	★☆☆☆☆ Found in Text Mining only
Osteoarthritis Knee	Osteoarthritis	Pubtator	30617055	Associate	★☆☆☆☆ Found in Text Mining only
Osteoarthritis, Knee	Knee osteoarthritis	BEFREE	29777408, 30617055		★☆☆☆☆ Found in Text Mining only
Osteogenesis Imperfecta Type IV	Osteogenesis imperfecta	Pubtator	21531376	Stimulate	★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	BEFREE	10987653, 12721790, 24281054		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	BEFREE	10807741		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	30257426	Associate	★☆☆☆☆ Found in Text Mining only
Peripheral pulmonary artery stenosis	Peripheral pulmonary artery stenosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pseudoxanthoma Elasticum	Pseudoxanthoma elasticum	LHGDN	17724449, 18222176		★☆☆☆☆ Found in Text Mining only
Pseudoxanthoma Elasticum	Pseudoxanthoma elasticum	Pubtator	17724449	Inhibit	★☆☆☆☆ Found in Text Mining only
Pseudoxanthoma Elasticum	Pseudoxanthoma elasticum	BEFREE	18222176, 20032990, 23223140		★☆☆☆☆ Found in Text Mining only
Pseudoxanthoma Elasticum	Pseudoxanthoma elasticum	Pubtator	23899606	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary arterial hypertension	Pulmonary arterial hypertension	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pulmonary Stenosis	Pulmonary Stenosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Recurrent bronchitis	Bronchitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Recurrent otitis media	Otitis media	HPO_DG			★☆☆☆☆ Found in Text Mining only
Recurrent sinusitis	Sinusitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	1399132		★☆☆☆☆ Found in Text Mining only
Sinusitis	Sinusitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sleep Apnea, Obstructive	Sleep Apnea	BEFREE	31631227		★☆☆☆☆ Found in Text Mining only
SMITH-MCCORT DYSPLASIA 1	Smith-McCort Dysplasia	BEFREE	29113690, 30262154		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	27713166	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	32086862	Associate	★☆☆☆☆ Found in Text Mining only
Stroke	Stroke	Pubtator	32584873	Associate	★☆☆☆☆ Found in Text Mining only
Thrombophilia	Thrombophilia	BEFREE	31209952		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	31264274		★☆☆☆☆ Found in Text Mining only
Undifferentiated carcinoma	Carcinoma	CTD_human_DG	12376462, 16316942		★☆☆☆☆ Found in Text Mining only
Uremia	Uremia	CTD_human_DG	19092814		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Varicosity	Vulval varices	BEFREE	17643059		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Varicosity	Vulval varices	LHGDN	17643059		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Varicosity	Vulval varices	CTD_human_DG	17643059		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Vascular Calcification	Vascular calcification	Pubtator	17848178, 19151998, 21435166, 23307874, 25990696, 26981580, 29788226, 31025895, 32313061	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Vascular Calcification	Vascular calcification	Pubtator	19151998, 19352064, 20133489, 22796540, 23307874, 28411264	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Vascular Diseases	Vascular Diseases	BEFREE	18369157, 20694284, 30597137		★☆☆☆☆ Found in Text Mining only
Ventricular Septal Defects	Ventricular septal defect	HPO_DG			★☆☆☆☆ Found in Text Mining only
Warburg Sjo Fledelius syndrome	Warburg micro syndrome	Pubtator	26555788	Stimulate	★☆☆☆☆ Found in Text Mining only