BMP1 (bone morphogenetic protein 1)

Gene

• Entrez ID: 649
• Gene name: Bone morphogenetic protein 1
• Gene symbol: BMP1
• Synonyms (NCBI Gene): OI13, PCOLC, PCP, PCP2, TLD
• Disease Acronyms (UniProt): OI13
• Chromosome: 8
• Chromosome location: 8p21.3
• Summary: This gene encodes a protein that is capable of inducing formation of cartilage in vivo. Although other bone morphogenetic proteins are members of the TGF-beta superfamily, this gene encodes a protein that is not closely related to other known growth facto

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs116360985	C>T	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, intron variant, stop gained, coding sequence variant
rs318240762	G>C	Pathogenic, not-provided	Non coding transcript variant, missense variant, coding sequence variant
rs398122891	C>G	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs786205217	T>C	Pathogenic	Intron variant, non coding transcript variant, 3 prime UTR variant
rs786205218	G>C	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs786205219	A>G	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs786205220	G>T	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1422817588	C>T	Likely-pathogenic	Non coding transcript variant, stop gained, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT006060	hsa-miR-29b-3p	ELISA, GFP reporter assay, qRT-PCR	21273536
MIRT006060	hsa-miR-29b-3p	ELISA, GFP reporter assay, qRT-PCR	21273536
MIRT006060	hsa-miR-29b-3p	ELISA, GFP reporter assay, qRT-PCR	21273536
MIRT006060	hsa-miR-29b-3p	Luciferase reporter assay, Microarray, qRT-PCR	19956414
MIRT018244	hsa-miR-335-5p	Microarray	18185580
MIRT054249	hsa-miR-194-5p	Immunohistochemistry, Immunoprecipitation, Luciferase reporter assay, QRTPCR, Western Blot	23584484
MIRT441109	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT441109	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT822320	hsa-miR-3202	CLIP-seq
MIRT822321	hsa-miR-3689a-3p	CLIP-seq
MIRT822322	hsa-miR-3689c	CLIP-seq
MIRT822323	hsa-miR-4271	CLIP-seq
MIRT822324	hsa-miR-4436b-3p	CLIP-seq
MIRT822325	hsa-miR-4698	CLIP-seq
MIRT822326	hsa-miR-4725-3p	CLIP-seq
MIRT822327	hsa-miR-4728-5p	CLIP-seq
MIRT822328	hsa-miR-4747-5p	CLIP-seq
MIRT822329	hsa-miR-4761-3p	CLIP-seq
MIRT822330	hsa-miR-564	CLIP-seq
MIRT822331	hsa-miR-1275	CLIP-seq
MIRT822332	hsa-miR-141	CLIP-seq
MIRT822333	hsa-miR-194	CLIP-seq
MIRT822334	hsa-miR-200a	CLIP-seq
MIRT822335	hsa-miR-4525	CLIP-seq
MIRT822336	hsa-miR-4665-5p	CLIP-seq
MIRT822337	hsa-miR-4687-3p	CLIP-seq
MIRT822338	hsa-miR-4723-5p	CLIP-seq
MIRT822339	hsa-miR-604	CLIP-seq
MIRT822340	hsa-miR-625	CLIP-seq
MIRT822341	hsa-miR-637	CLIP-seq
MIRT822342	hsa-miR-647	CLIP-seq
MIRT2181822	hsa-miR-1226	CLIP-seq
MIRT2181823	hsa-miR-1229	CLIP-seq
MIRT2181824	hsa-miR-4520a-3p	CLIP-seq
MIRT2181825	hsa-miR-4733-3p	CLIP-seq
MIRT2435798	hsa-miR-1253	CLIP-seq
MIRT2435799	hsa-miR-128	CLIP-seq
MIRT2435800	hsa-miR-29a	CLIP-seq
MIRT2435801	hsa-miR-29b	CLIP-seq
MIRT2435802	hsa-miR-29c	CLIP-seq
MIRT2435803	hsa-miR-3150a-3p	CLIP-seq
MIRT2435804	hsa-miR-3175	CLIP-seq
MIRT2435805	hsa-miR-3663-3p	CLIP-seq
MIRT822321	hsa-miR-3689a-3p	CLIP-seq
MIRT822322	hsa-miR-3689c	CLIP-seq
MIRT2435806	hsa-miR-4277	CLIP-seq
MIRT2435807	hsa-miR-4434	CLIP-seq
MIRT822324	hsa-miR-4436b-3p	CLIP-seq
MIRT2435808	hsa-miR-4516	CLIP-seq
MIRT822325	hsa-miR-4698	CLIP-seq
MIRT822327	hsa-miR-4728-5p	CLIP-seq
MIRT822329	hsa-miR-4761-3p	CLIP-seq
MIRT2435809	hsa-miR-491-5p	CLIP-seq
MIRT2435810	hsa-miR-939	CLIP-seq
MIRT2435798	hsa-miR-1253	CLIP-seq
MIRT2435799	hsa-miR-128	CLIP-seq
MIRT2485462	hsa-miR-1321	CLIP-seq
MIRT2435800	hsa-miR-29a	CLIP-seq
MIRT2435801	hsa-miR-29b	CLIP-seq
MIRT2435802	hsa-miR-29c	CLIP-seq
MIRT2435803	hsa-miR-3150a-3p	CLIP-seq
MIRT2435804	hsa-miR-3175	CLIP-seq
MIRT822320	hsa-miR-3202	CLIP-seq
MIRT2435805	hsa-miR-3663-3p	CLIP-seq
MIRT822321	hsa-miR-3689a-3p	CLIP-seq
MIRT822322	hsa-miR-3689c	CLIP-seq
MIRT2485463	hsa-miR-3689d	CLIP-seq
MIRT2485464	hsa-miR-3943	CLIP-seq
MIRT822323	hsa-miR-4271	CLIP-seq
MIRT2435806	hsa-miR-4277	CLIP-seq
MIRT2485465	hsa-miR-4419a	CLIP-seq
MIRT2435807	hsa-miR-4434	CLIP-seq
MIRT822324	hsa-miR-4436b-3p	CLIP-seq
MIRT2485466	hsa-miR-4447	CLIP-seq
MIRT2485467	hsa-miR-4472	CLIP-seq
MIRT2485468	hsa-miR-4510	CLIP-seq
MIRT2435808	hsa-miR-4516	CLIP-seq
MIRT822325	hsa-miR-4698	CLIP-seq
MIRT2485469	hsa-miR-4707-5p	CLIP-seq
MIRT822326	hsa-miR-4725-3p	CLIP-seq
MIRT822327	hsa-miR-4728-5p	CLIP-seq
MIRT2485470	hsa-miR-4739	CLIP-seq
MIRT2485471	hsa-miR-4743	CLIP-seq
MIRT822328	hsa-miR-4747-5p	CLIP-seq
MIRT2485472	hsa-miR-4756-5p	CLIP-seq
MIRT822329	hsa-miR-4761-3p	CLIP-seq
MIRT2435809	hsa-miR-491-5p	CLIP-seq
MIRT2485473	hsa-miR-541	CLIP-seq
MIRT822330	hsa-miR-564	CLIP-seq
MIRT2485474	hsa-miR-654-5p	CLIP-seq
MIRT2485475	hsa-miR-759	CLIP-seq
MIRT2435810	hsa-miR-939	CLIP-seq
MIRT2676008	hsa-miR-1200	CLIP-seq
MIRT2435798	hsa-miR-1253	CLIP-seq
MIRT2435799	hsa-miR-128	CLIP-seq
MIRT2676009	hsa-miR-1294	CLIP-seq
MIRT2485462	hsa-miR-1321	CLIP-seq
MIRT2435800	hsa-miR-29a	CLIP-seq
MIRT2435801	hsa-miR-29b	CLIP-seq
MIRT2435802	hsa-miR-29c	CLIP-seq
MIRT2435803	hsa-miR-3150a-3p	CLIP-seq
MIRT2435804	hsa-miR-3175	CLIP-seq
MIRT822320	hsa-miR-3202	CLIP-seq
MIRT2435805	hsa-miR-3663-3p	CLIP-seq
MIRT822321	hsa-miR-3689a-3p	CLIP-seq
MIRT822322	hsa-miR-3689c	CLIP-seq
MIRT2485463	hsa-miR-3689d	CLIP-seq
MIRT2485464	hsa-miR-3943	CLIP-seq
MIRT822323	hsa-miR-4271	CLIP-seq
MIRT2435806	hsa-miR-4277	CLIP-seq
MIRT2676010	hsa-miR-4324	CLIP-seq
MIRT2485465	hsa-miR-4419a	CLIP-seq
MIRT2435807	hsa-miR-4434	CLIP-seq
MIRT822324	hsa-miR-4436b-3p	CLIP-seq
MIRT2485466	hsa-miR-4447	CLIP-seq
MIRT2485467	hsa-miR-4472	CLIP-seq
MIRT2485468	hsa-miR-4510	CLIP-seq
MIRT2435808	hsa-miR-4516	CLIP-seq
MIRT822325	hsa-miR-4698	CLIP-seq
MIRT2485469	hsa-miR-4707-5p	CLIP-seq
MIRT2676011	hsa-miR-4710	CLIP-seq
MIRT822326	hsa-miR-4725-3p	CLIP-seq
MIRT822327	hsa-miR-4728-5p	CLIP-seq
MIRT2485470	hsa-miR-4739	CLIP-seq
MIRT2485471	hsa-miR-4743	CLIP-seq
MIRT822328	hsa-miR-4747-5p	CLIP-seq
MIRT2485472	hsa-miR-4756-5p	CLIP-seq
MIRT822329	hsa-miR-4761-3p	CLIP-seq
MIRT2676012	hsa-miR-4761-5p	CLIP-seq
MIRT2435809	hsa-miR-491-5p	CLIP-seq
MIRT2485473	hsa-miR-541	CLIP-seq
MIRT2676013	hsa-miR-544b	CLIP-seq
MIRT822330	hsa-miR-564	CLIP-seq
MIRT2485474	hsa-miR-654-5p	CLIP-seq
MIRT2485475	hsa-miR-759	CLIP-seq
MIRT2435810	hsa-miR-939	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001501	Process	Skeletal system development	NAS	7798260
GO:0001502	Process	Cartilage condensation	TAS	3201241
GO:0001503	Process	Ossification	IEA
GO:0004222	Function	Metalloendopeptidase activity	IEA
GO:0005125	Function	Cytokine activity	IEA
GO:0005509	Function	Calcium ion binding	IEA
GO:0005515	Function	Protein binding	IPI	19429706, 20043912, 20207734, 20979576, 23829672, 25543063
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	IEA
GO:0005794	Component	Golgi apparatus	IEA
GO:0006508	Process	Proteolysis	IDA
GO:0007165	Process	Signal transduction	IEA
GO:0007275	Process	Multicellular organism development	TAS	7798260
GO:0008083	Function	Growth factor activity	IEA
GO:0008233	Function	Peptidase activity	IDA	12393877
GO:0008237	Function	Metallopeptidase activity	NAS	7798260
GO:0008270	Function	Zinc ion binding	IEA
GO:0022617	Process	Extracellular matrix disassembly	TAS
GO:0030154	Process	Cell differentiation	IEA
GO:0031982	Component	Vesicle	IEA
GO:0034380	Process	High-density lipoprotein particle assembly	TAS
GO:0042802	Function	Identical protein binding	IPI	19429706
GO:0061036	Process	Positive regulation of cartilage development	IDA	3201241

Other IDs

• MIM: 112264
• HGNC: 1067
• e!Ensembl: ENSG00000168487

Protein

• UniProt ID: P13497
• Protein name: Bone morphogenetic protein 1 (BMP-1) (EC 3.4.24.19) (Mammalian tolloid protein) (mTld) (Procollagen C-proteinase) (PCP)
• Protein function: Metalloprotease that plays key roles in regulating the formation of the extracellular matrix (ECM) via processing of various precursor proteins into mature functional enzymes or structural proteins (PubMed:33206546). Thereby participates in seve
• PDB: 3EDG, 3EDH, 6BSL, 6BSM, 6BTN, 6BTO, 6BTP, 6BTQ
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01400	Astacin	128 → 321	Astacin (Peptidase family M12A)	Domain
  PF00431	CUB	322 → 431	CUB domain	Domain
  PF00431	CUB	435 → 544	CUB domain	Domain
  PF14670	FXa_inhibition	551 → 587		Domain
  PF00431	CUB	591 → 700	CUB domain	Domain
  PF07645	EGF_CA	703 → 743	Calcium-binding EGF domain	Domain
  PF00431	CUB	747 → 856	CUB domain	Domain
  PF00431	CUB	860 → 973	CUB domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Ubiquitous.
• Sequence:

  MPGVARLPLLLGLLLLPRPGRPLDLADYTYDLAEEDDSEPLNYKDPCKAAAFLGDIALDE
  EDLRAFQVQQAVDLRRHTARKSSIKAAVPGNTSTPSCQSTNGQPQRGACGRWRGRSRSRR
  AATSRPERVWPDGVIPFVIGGNFTGSQRAVFRQAMRHWEKHTCVTFLERTDEDSYIVFTY
  RPCGCCSYVGRRGGGPQAISIGKNCDKFGIVVHELGHVVGFWHEHTRPDRDRHVSIVREN
  IQPGQEYNFLKMEPQEVESLGETYDFDSIMHYARNTFSRGIFLDTIVPKYEVNGVKPPIG
  QRTRLSKGDIAQARKLYKCPACGETLQDSTGNFSSPEYPNGYSAHMHCVWRISVTPGEKI
  ILNFTSLDLYRSRLCWYDYVEVRDGFWRKAPLRGRFCGSKLPEPIVSTDSRLWVEFRSSS
  NWVGKGFFAVYEAICGGDVKKDYGHIQSPNYPDDYRPSKVCIWRIQVSEGFHVGLTFQSF
  EIERHDSCAYDYLEVRDGHSESSTLIGRYCGYEKPDDIKSTSSRLWLKFVSDGSINKAGF
  AVNFFKEVDECSRPNRGGCEQRCLNTLGSYKCSCDPGYELAPDKRRCEAACGGFLTKLNG
  SITSPGWPKEYPPNKNCIWQLVAPTQYRISLQFDFFETEGNDVCKYDFVEVRSGLTADSK
  LHGKFCGSEKPEVITSQYNNMRVEFKSDNTVSKKGFKAHFFSDKDECSKDNGGCQQDCVN
  TFGSYECQCRSGFVLHDNKHDCKEAGCDHKVTSTSGTITSPNWPDKYPSKKECTWAISST
  PGHRVKLTFMEMDIESQPECAYDHLEVFDGRDAKAPVLGRFCGSKKPEPVLATGSRMFLR
  FYSDNSVQRKGFQASHATECGGQVRADVKTKDLYSHAQFGDNNYPGGVDCEWVIVAEEGY
  GVELVFQTFEVEEETDCGYDYMELFDGYDSTAPRLGRYCGSGPPEEVYSAGDSVLVKFHS
  DDTITKKGFHLRYTSTKFQDTLHSRK

• Sequence length: 986

Pathways

Reactome:

Degradation of the extracellular matrix
Collagen biosynthesis and modifying enzymes
Anchoring fibril formation
Crosslinking of collagen fibrils
HDL assembly

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
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
Coronary artery disease	Coronary Artery Disease	rs137852988, rs121918313, rs121918529, rs121918531, rs137852340, rs1555800701, rs1215189537	29212778
Osteogenesis imperfecta	Osteogenesis imperfecta type III (disorder), OSTEOGENESIS IMPERFECTA, TYPE XIII, Osteogenesis imperfecta type 3	rs72659351, rs72659354, rs72659348, rs72659355, rs137853952, rs118203996, rs137853890, rs72659360, rs72659362, rs72659359, rs72659361, rs72659357, rs121918002, rs121918007, rs121918009, rs121918011, rs121918019, rs137853869, rs121434559, rs72659319, rs72659345, rs121912903, rs121912905, rs121912907, rs869254878, rs72658200, rs74315103, rs121912911, rs72658176, rs72656402, rs121912912, rs267606742, rs72659338, rs72645331, rs66721653, rs67368147, rs72653136, rs72653169, rs66523073, rs72656352, rs72645365, rs72667022, rs72645357, rs72656330, rs66527965, rs72645323, rs72656331, rs72667037, rs72654802, rs67682641, rs72653178, rs72653131, rs72656353, rs67828806, rs72656343, rs1906960583, rs72656314, rs67364703, rs72645347, rs72651618, rs66490707, rs72653170, rs72645320, rs137853892, rs1567856056, rs387906960, rs1555616552, rs137853865, rs137853866, rs193302872, rs193302871, rs193302873, rs137853893, rs193922137, rs72648320, rs193922138, rs193922139, rs193922140, rs193922141, rs193922143, rs193922144, rs193922145, rs193922147, rs193922148, rs193922149, rs193922151, rs193922152, rs193922154, rs72653173, rs193922155, rs193922157, rs72667023, rs193922158, rs72645328, rs193922162, rs72658154, rs193922166, rs193922167, rs193922173, rs72656387, rs193922175, rs587776916, rs398122891, rs318240762, rs372896892, rs398122834, rs749709000, rs397509383, rs397514674, rs398122518, rs398122519, rs398122520, rs387907325, rs387907333, rs387907334, rs387907354, rs387907355, rs387907356, rs387907357, rs727505392, rs786201032, rs786205217, rs786205218, rs786205219, rs786205220, rs797044559, rs794726873, rs72645353, rs869320752, rs137853943, rs797045033, rs863225043, rs869025223, rs869312908, rs878853274, rs72659347, rs72656370, rs886039693, rs67507747, rs762428889, rs72645318, rs886039880, rs369651701, rs886041866, rs886042260, rs886042286, rs886042603, rs886042897, rs72654794, rs72651642, rs140468248, rs137853944, rs1057517662, rs1057517663, rs74315111, rs72648337, rs1057518930, rs1057521085, rs1064794058, rs72658185, rs1555572249, rs67771061, rs1114167416, rs1114167417, rs72656386, rs1114167418, rs906553840, rs67729041, rs67865220, rs1114167412, rs67707918, rs68132885, rs72658119, rs72658143, rs72658150, rs72659310, rs67609234, rs1114167414, rs1114167415, rs72659325, rs67768540, rs1114167406, rs1114167405, rs1114167403, rs34940368, rs1114167402, rs72656340, rs1114167401, rs1114167400, rs72656338, rs1114167399, rs67815019, rs1114167398, rs67394386, rs1114167382, rs1114167396, rs1114167395, rs1114167381, rs1114167394, rs67445413, rs1114167380, rs1114167379, rs1114167392, rs67693970, rs1114167391, rs1114167378, rs72651661, rs1114167390, rs72651645, rs1114167389, rs1114167388, rs66555264, rs72651614, rs1114167387, rs1114167377, rs1114167375, rs1114167374, rs1114167385, rs72648326, rs72648322, rs72645369, rs1555574154, rs72645366, rs786205507, rs1114167411, rs72645356, rs72645337, rs72645334, rs72645321, rs1114167410, rs72667036, rs8179178, rs1114167408, rs1114167407, rs72667016, rs72667012, rs1114167384, rs1114167409, rs1085307634, rs1131692167, rs765659555, rs1131692326, rs1131692320, rs1135401953, rs137853883, rs1555573313, rs72667014, rs1555573621, rs1555572125, rs1260429820, rs67879854, rs1555574143, rs1328384458, rs72648343, rs1555574516, rs1555574641, rs972668240, rs72656392, rs66612022, rs66619856, rs1554395970, rs1555571755, rs1555571849, rs1555572075, rs1555572239, rs1555572458, rs1555573004, rs67543897, rs72648352, rs1555574113, rs1555574493, rs1555574497, rs1555574638, rs1555574802, rs1555571529, rs1555571647, rs1555571766, rs1555572401, rs1555572456, rs72651635, rs1555573484, rs1298621011, rs1555575086, rs1555572013, rs1555572120, rs1555572121, rs1555573039, rs1555574071, rs66664580, rs72667031, rs1555571874, rs72653151, rs72653147, rs1213427451, rs72651620, rs865999256, rs1555574144, rs1555574151, rs72645341, rs1555574496, rs1555574553, rs1555571916, rs1555178899, rs1555575370, rs1555572315, rs72645361, rs113994016, rs781272386, rs1554397369, rs1555572406, rs72651634, rs139593707, rs1555572316, rs72651640, rs1554396283, rs763159520, rs72658127, rs1553143741, rs1553143142, rs1554200383, rs1187611948, rs1554200371, rs1555572254, rs867628651, rs72653155, rs138570309, rs1410254723, rs1555573897, rs1228746935, rs72645368, rs1555574871, rs1555572640, rs1555573288, rs1555573629, rs1555575015, rs1555575889, rs1555572759, rs1555574158, rs1555574177, rs72667029, rs1555571942, rs1555574319, rs753683126, rs72651658, rs1554395470, rs1555572161, rs371243939, rs1555986267, rs1555986287, rs1555222973, rs779809838, rs1565789682, rs1557569037, rs1013320485, rs762525651, rs72656375, rs1567752926, rs1567752998, rs1567753046, rs1567753329, rs72653140, rs1567756567, rs72651644, rs1567760604, rs1567761950, rs1567763007, rs111594467, rs1567757112, rs1567759402, rs1567760123, rs67163049, rs1567756357, rs1567760736, rs1567761649, rs1567763447, rs1567763451, rs1567764387, rs1567764832, rs1567766329, rs72656326, rs1567753699, rs1567754277, rs72653168, rs72645370, rs1567762257, rs1567766338, rs72658193, rs72648357, rs1562906570, rs72659305, rs1567751388, rs1567753448, rs72651647, rs1567761800, rs1567762262, rs72648346, rs1565244847, rs1567757138, rs72656394, rs1562907287, rs1567754589, rs1598288342, rs1567855132, rs72659356, rs773269078, rs1570479611, rs762780039, rs1330779100, rs1598289920, rs72653133, rs1562906013, rs753338851, rs1570454914, rs1229143002, rs1570472113, rs137853939, rs768626850, rs1584324507, rs141011435, rs1598285120, rs72656324, rs1598288070, rs1598288593, rs1598289365, rs1598291438, rs72648330, rs1598296825, rs72648319, rs72648313, rs72645332, rs1598299070, rs1598300304, rs1473458290, rs1598285125, rs72653171, rs72653150, rs1181095991, rs1598295482, rs1598301459, rs72651667, rs1598298449, rs1597352358, rs1597355244, rs1597357740, rs1597357758, rs1597902342, rs1374482728, rs1597905563, rs1570452407, rs1570453963, rs1581634382, rs1597906442, rs1597908085, rs1597907877, rs1584316181, rs1584318953, rs72656389, rs1584319418, rs1584322737, rs1584330959, rs2586486, rs1598286543, rs72654797, rs1598288634, rs1598288656, rs1598290382, rs1598293920, rs1598295794, rs150572711, rs1598299275, rs1598300054, rs111953130, rs868166455, rs745891632, rs1021282486, rs780491808, rs1584320553, rs1598298699, rs72648321, rs1598288648, rs1598288967, rs72645352, rs1598298292, rs72645315, rs762979302, rs1598286050, rs1598301619, rs1584330396, rs72653156, rs1598295066, rs137853948, rs1598288002, rs1598289247, rs1652311421, rs1701306294, rs1906421838, rs72656351, rs72656348, rs1906537608, rs72656337, rs72656320, rs1906843530, rs1906847588, rs1906874191, rs1906878217, rs72651641, rs1907212702, rs1907330109, rs1907377731, rs1907418203, rs1907457376, rs72648333, rs1907617224, rs72667030, rs1907889665, rs1907921633, rs1908087291, rs1652352034, rs72648370, rs1555575835, rs1908083033, rs1907669327, rs112274185, rs72656327, rs1906695650, rs72645338, rs1907787005, rs1054264002, rs1791878922, rs1791894410, rs1791907178, rs369314029, rs1908050941, rs72653141, rs1907103040, rs1907351704, rs1907477506, rs1907512918, rs112042777, rs1907566530, rs1907770102, rs1791951769, rs1792108270, rs1387151592, rs72656385	22052668, 28513615, 25402547, 22482805

Unknown
Disease term	Disease name	Evidence	References	Source
Osteogenesis Imperfecta	osteogenesis imperfecta type 3			GenCC
High Bone Mass Osteogenesis Imperfecta	high bone mass osteogenesis imperfecta			GenCC
Myocardial Infarction	Myocardial Infarction			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Adenocarcinoma of Lung	Associate	34036102
Adenoma	Inhibit	18008360
Adenoma	Associate	26510091
Adenomatous Polyposis Coli	Associate	36907526, 37889976
Adrenal Hyperplasia Congenital	Associate	24380766
Anemia Sickle Cell	Associate	24263212
Aortic Valve Calcification of	Associate	21698246
Arnold Chiari Malformation	Associate	28513615
Arteriovenous Malformations	Associate	35393474, 36198763
Arthritis	Associate	14558086, 30320351
Arthritis Psoriatic	Associate	33250156
Arthritis Rheumatoid	Associate	16542506, 26215036
Asthma	Associate	35731115
Astrocytoma	Associate	25790191
Atrioventricular Septal Defect	Associate	15358693
Bardet Biedl Syndrome 10	Associate	32160518
Bipolar Disorder	Stimulate	30468562
Body Weight	Stimulate	19305382
Bone Diseases	Associate	16007344, 17900349, 21249149, 24828823, 27652695, 36054271
Bone Diseases Metabolic	Associate	24828823
Bone Neoplasms	Associate	33034913
Bone Resorption	Associate	25973542
Brachydactyly Type B1	Associate	17668388
Breast Neoplasms	Associate	21113658, 22118688, 25973542, 26976638, 27806311, 31404982
Calcinosis	Stimulate	19305382
Calcinosis	Associate	21698246, 31090495, 38446374, 39755217
Calcinosis	Inhibit	26809343
Calcinosis Cutis	Associate	36054271
Calvarial hyperostosis	Associate	31819067
Carcinogenesis	Associate	12237773, 16175182, 18414391, 18422752, 18446370, 20027224, 20844743, 21737876, 23826422, 28423564, 29720137, 34517088
Carcinoma Basal Cell	Associate	17003113
Carcinoma Hepatocellular	Associate	37658413
Carcinoma Non Small Cell Lung	Associate	23593444, 25994008, 29745043
Carcinoma Ovarian Epithelial	Associate	34110955
Carcinoma Renal Cell	Associate	37848987
Cardiomyopathy Dilated	Associate	33407844
Carotid Artery Diseases	Associate	24378993
Cerebral Infarction	Associate	32960689
Chemical and Drug Induced Liver Injury	Associate	24448807
Cholesteatoma	Associate	23927997
Chondrosarcoma	Associate	23088614, 29044189
Ciliary Motility Disorders	Associate	36552777
Colitis Ulcerative	Associate	25171508
Colonic Diseases	Associate	18008360
Colorectal Neoplasms	Associate	12237773, 16769811, 18008360, 18414391, 18422752, 18756595, 20844743, 21387313, 21655089, 23659962, 23969729, 24812030, 25375357, 25393365, 26072521, 26510091, 28299802, 29118272, 29986714, 31089142, 36907526, 37357017
Colorectal Neoplasms Hereditary Nonpolyposis	Associate	36907526
Conotruncal cardiac defects	Associate	15358693
Corneal Endothelial Cell Loss	Associate	35603423
Craniosynostoses	Associate	31292255, 37890181
Cytokine Release Syndrome	Stimulate	36552777
Developmental Disabilities	Associate	24705252
Diabetic Nephropathies	Associate	26412030
Drug Related Side Effects and Adverse Reactions	Associate	24778011
Dysgnathia complex	Associate	32100971
Eales disease	Associate	17947237
Endodermal Sinus Tumor	Associate	21696393, 33448076
Endometrial Neoplasms	Associate	24077349, 34360647
Esophagitis	Associate	29953975
Familial ependymoma	Associate	19536879
Familial Primary Pulmonary Hypertension	Associate	16368652, 19324947, 23590310, 31626133
Fibrocartilaginous embolism	Associate	26809343
Fibroma Desmoplastic	Associate	24812030
Fibromatosis Aggressive	Associate	16007344
Fibrosis	Associate	21452302
Fibrosis	Stimulate	37887346
Fractures Bone	Associate	25656619, 27576954
Fragile X Syndrome	Associate	36012539
Fraser Syndrome	Associate	29197384
Gastrointestinal Neoplasms	Associate	33189777
Genetic Diseases Inborn	Associate	18385288, 21764776, 22895257
Germinoma	Associate	21696393
Glaucoma	Associate	23748100, 32641001
Glaucoma Angle Closure	Associate	32641001
Glioblastoma	Associate	19587783, 32234828, 35192123
Glioma	Associate	34214250, 36324293, 37848987, 39373720
Glycosuria Renal	Associate	30602563
Growth Disorders	Associate	25656619
Heart Defects Congenital	Associate	27357418
Heart Diseases	Associate	15358693
Heart Septal Defects	Associate	15358693
Hemochromatosis	Associate	20863724, 38252872, 39563390
Holoprosencephaly	Associate	19346217
Hypertension Pulmonary	Associate	10903931, 16815889, 16840720
Hypertrophy	Associate	16815889, 36810131
Hypoxia	Inhibit	16840720, 20336693
Hypoxia	Associate	19587783, 22895257, 23685731
Idiopathic Pulmonary Fibrosis	Stimulate	37887346
Inflammation	Associate	22718766, 24391488, 25260970, 26215036, 33250156
Inflammation	Stimulate	36778550
Intracranial Arteriovenous Malformations	Associate	36198763
Juvenile polyposis syndrome	Associate	15235019, 21412070, 22316667, 22561515
Keloid	Associate	27943413
Keratoacanthoma	Associate	19671862
Keratoconus	Associate	30029277
Kidney Neoplasms	Associate	21080955
Kyphoscoliosis 1	Associate	25656619
Lead Poisoning Nervous System	Associate	23748100
Leiomyoma	Associate	25596622
Leukemia	Associate	30262802
Leukemia Lymphocytic Chronic B Cell	Associate	30206237
Leukemia Myelogenous Chronic BCR ABL Positive	Associate	23651669, 24100446, 29138221
Leukemia Myeloid Acute	Associate	30262802, 31322275
Leukemia Myeloid Chronic Phase	Associate	24100446
Limb Deformities Congenital	Associate	25656619
Loeys Dietz Syndrome	Associate	25116393
Lung Neoplasms	Associate	23593444, 24778011
Lupus Erythematosus Systemic	Associate	22897816
Lymphedema	Associate	30947262
Lymphoma B Cell	Inhibit	23826422
Meckel syndrome type 1	Associate	32160518
Medulloblastoma	Associate	19966297
Meningioma	Associate	38446374
Mesenchymoma	Associate	28299802
Monckeberg Medial Calcific Sclerosis	Associate	31090495
Mowat Wilson syndrome	Associate	37890485
Muscular Diseases	Associate	21452302
Myositis Ossificans	Associate	10631143, 15940369, 16753021, 21525719, 24705252, 26621707, 27530160, 30429363
Neointima	Associate	2004778
Neoplasm Metastasis	Associate	15861517, 21725358, 25973542, 28347399, 29720137, 33189777
Neoplasms	Associate	15861517, 16175182, 17003113, 18385288, 18422752, 19966297, 21737876, 22142399, 22277058, 22514712, 23439492, 23593444, 23651239, 23659962, 25260970, 25393365, 25471937, 25706341, 26235139, 26419594, 26820911, 29668670, 29670000, 29953975, 30742544, 31322275, 33189777, 34360647, 34517088, 35065254, 35484112, 36267461, 37030166, 37357017, 39373720
Neoplasms	Inhibit	18008360, 21456062, 23969729
Neoplasms Germ Cell and Embryonal	Associate	21696393
Nerve Degeneration	Associate	19620182
Neuroblastoma	Associate	27036124, 32210188
Neuroblastoma	Inhibit	40605263
Neurodegenerative Diseases	Associate	23439113, 33677096
Neuronal Ceroid Lipofuscinoses	Associate	17482562
Nevus Sebaceous of Jadassohn	Associate	36552777
Noonan Syndrome	Stimulate	32493428
Orofacial Cleft 1	Associate	26561393
Ossification Heterotopic	Associate	27530160
Osteoarthritis	Associate	19303468
Osteoarthritis	Inhibit	27794162
Osteogenesis Imperfecta	Associate	25656619, 27576954, 28257626, 33818922
Osteolysis	Associate	25973542
Osteonecrosis	Associate	24263212
Osteopoikilosis	Associate	27267960
Osteoporosis	Associate	25152406, 32967078, 38098042
Osteoporosis pseudoglioma syndrome	Associate	25656619
Osteosarcoma	Associate	20340016, 22868198, 37030166
Osteosarcoma	Stimulate	33034913
Ovarian Diseases	Associate	40244008
Ovarian Neoplasms	Associate	21737876, 26235139, 32009247
Pain	Associate	24901787
Pancreatic Neoplasms	Associate	19056927, 23651239, 23969729
Pelvic Organ Prolapse	Stimulate	27636223
Periodontitis	Associate	25056994
Peripheral Arterial Disease	Associate	31090495, 37823262
Pneumonia Mycoplasma	Associate	36778550
Primary Myelofibrosis	Stimulate	18349123
Prostatic Neoplasms	Associate	21456062, 25706341, 25858146, 28426320, 31819067, 36054271
Prostatic Neoplasms Castration Resistant	Associate	36054271
Prune Belly Syndrome	Associate	29174092
Psoriasis	Associate	33250156
Pulmonary Arterial Hypertension	Associate	16840720, 17947237, 19223935, 22718766, 23685731, 23937428, 24375867, 32813135, 38110438
Pulmonary Disease Chronic Obstructive	Associate	29289685, 30742544
Pulmonary edema of mountaineers	Associate	30254217
Radioulnar Synostosis	Associate	31138930
red meat allergy	Inhibit	25656619
Renal Insufficiency Chronic	Associate	30602563
Rett Syndrome	Associate	37302988
Rhabdomyosarcoma	Stimulate	33034913
Rhizomelic syndrome	Associate	25656619
Sarcoma Ewing	Associate	28030800
Schizophrenia	Stimulate	30468562
Spastic Paraplegia Hereditary	Associate	19620182
Squamous Cell Carcinoma of Head and Neck	Associate	25471937, 28035402
Stomach Neoplasms	Associate	29668670, 33189777, 35065254, 35856444
Stomach Neoplasms	Stimulate	29720137
Telangiectasia Hereditary Hemorrhagic	Associate	21764776, 28564608
Telangiectasis	Associate	36259599
Tertiary Lymphoid Structures	Associate	15940369, 16753021
Thyroid Cancer Papillary	Associate	38132395
Tracheoesophageal Fistula	Inhibit	33201890
Tuberculosis	Associate	33097805
Typical Teratoid Rhabdoid Tumor	Associate	21946044
Urinary Bladder Neoplasms	Associate	35731212
Vascular Calcification	Associate	22874762, 39768183
Vascular Diseases	Associate	20870717, 21764776, 22718766, 22895257
Xerostomia	Associate	37620905