BMPR1B (bone morphogenetic protein receptor type 1B)

Gene

• Entrez ID: 658
• Gene name: Bone morphogenetic protein receptor type 1B
• Gene symbol: BMPR1B
• Synonyms: ALK-6, ALK6, AMDD, BDA1D, BDA2, CDw293
• Chromosome: 4
• Chromosome location: 4q22.3
• Summary: This gene encodes a member of the bone morphogenetic protein (BMP) receptor family of transmembrane serine/threonine kinases. The ligands of this receptor are BMPs, which are members of the TGF-beta superfamily. BMPs are involved in endochondral bone formation and embryogenesis. These proteins transduce their signals through the formation of heteromeric complexes of 2 different types of serine (threonine) kinase receptors: type I receptors of about 50-55 kD and type II receptors of about 70-80 kD. Type II receptors bind ligands in the absence of type I receptors, but they require their respective type I receptors for signaling, whereas type I receptors require their respective type II receptors for ligand binding. Mutations in this gene have been associated with primary pulmonary hypertension. Several transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Feb 2012]

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs121434417	T>A	Pathogenic	Missense variant, coding sequence variant
rs121434418	C>T	Pathogenic	Missense variant, coding sequence variant
rs121434419	G>A	Pathogenic	Missense variant, coding sequence variant
rs745854387	C>A,T	Pathogenic	Missense variant, coding sequence variant
rs775608689	A>G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs863223287	GGACCTAT>-	Pathogenic	Frameshift variant, coding sequence variant
rs863225041	T>C	Pathogenic	Coding sequence variant, missense variant
rs863225042	G>A	Pathogenic	Stop gained, coding sequence variant
rs869025613	G>A	Pathogenic	Splice acceptor variant
rs869025614	A>C	Pathogenic	Coding sequence variant, missense variant
rs1057521819	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1177728492	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1553941890	C>A	Pathogenic	Coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT000346	hsa-miR-125b-5p	Luciferase reporter assay	19738052
MIRT000346	hsa-miR-125b-5p	Luciferase reporter assay, qRT-PCR, Western blot	28214897
MIRT052538	hsa-let-7a-5p	CLASH	23622248
MIRT438479	hsa-miR-22-3p	Luciferase reporter assay	24163368
MIRT661591	hsa-miR-6792-3p	HITS-CLIP	23824327
MIRT661592	hsa-miR-4691-5p	HITS-CLIP	23824327
MIRT661593	hsa-miR-4705	HITS-CLIP	23824327
MIRT661594	hsa-miR-4668-3p	HITS-CLIP	23824327
MIRT661595	hsa-miR-548c-3p	HITS-CLIP	23824327

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001501	Process	Skeletal system development	IMP	14523231
GO:0001502	Process	Cartilage condensation	NAS	14523231
GO:0001550	Process	Ovarian cumulus expansion	ISS
GO:0001654	Process	Eye development	ISS
GO:0002063	Process	Chondrocyte development	ISS
GO:0004674	Function	Protein serine/threonine kinase activity	IBA	21873635
GO:0004674	Function	Protein serine/threonine kinase activity	IDA	12065756
GO:0004675	Function	Transmembrane receptor protein serine/threonine kinase activity	IMP	14523231
GO:0004675	Function	Transmembrane receptor protein serine/threonine kinase activity	NAS	10051328
GO:0005025	Function	Transforming growth factor beta receptor activity, type I	IBA	21873635
GO:0005515	Function	Protein binding	IPI	11266516, 11279102, 16127465, 18184661, 19229295, 21976273, 24098149, 24904118
GO:0005524	Function	ATP binding	IDA	12065756
GO:0005886	Component	Plasma membrane	IBA	21873635
GO:0005886	Component	Plasma membrane	ISS
GO:0005886	Component	Plasma membrane	TAS
GO:0005887	Component	Integral component of plasma membrane	IC	14523231
GO:0006468	Process	Protein phosphorylation	IBA	21873635
GO:0006468	Process	Protein phosphorylation	IDA	12065756
GO:0006954	Process	Inflammatory response	IEA
GO:0009953	Process	Dorsal/ventral pattern formation	IBA	21873635
GO:0030166	Process	Proteoglycan biosynthetic process	ISS
GO:0030425	Component	Dendrite	IEA
GO:0030501	Process	Positive regulation of bone mineralization	IMP	18436533
GO:0030509	Process	BMP signaling pathway	IBA	21873635
GO:0030509	Process	BMP signaling pathway	IDA	18436533
GO:0030509	Process	BMP signaling pathway	NAS	10051328
GO:0030509	Process	BMP signaling pathway	TAS
GO:0031290	Process	Retinal ganglion cell axon guidance	IEA
GO:0032332	Process	Positive regulation of chondrocyte differentiation	ISS
GO:0035108	Process	Limb morphogenesis	IMP	14523231
GO:0042698	Process	Ovulation cycle	ISS
GO:0043025	Component	Neuronal cell body	IEA
GO:0043235	Component	Receptor complex	IBA	21873635
GO:0043235	Component	Receptor complex	TAS	14523231
GO:0045597	Process	Positive regulation of cell differentiation	IMP	14523231
GO:0045669	Process	Positive regulation of osteoblast differentiation	IMP	18436533
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IMP	18326817
GO:0046332	Function	SMAD binding	IBA	21873635
GO:0046332	Function	SMAD binding	IDA	12065756
GO:0046872	Function	Metal ion binding	IEA
GO:0060041	Process	Retina development in camera-type eye	IEA
GO:0060350	Process	Endochondral bone morphogenesis	ISS
GO:0061036	Process	Positive regulation of cartilage development	ISS
GO:0071363	Process	Cellular response to growth factor stimulus	IBA	21873635
GO:0071773	Process	Cellular response to BMP stimulus	IMP	18326817
GO:1902043	Process	Positive regulation of extrinsic apoptotic signaling pathway via death domain receptors	IEA
GO:1902731	Process	Negative regulation of chondrocyte proliferation	ISS
GO:1990712	Component	HFE-transferrin receptor complex	IC	24904118

Other IDs

• MIM: 603248
• HGNC: 1077
• e!Ensembl: ENSG00000138696

Protein

• UniProt ID: O00238
• Protein name: Bone morphogenetic protein receptor type-1B (BMP type-1B receptor) (BMPR-1B) (EC 2.7.11.30) (CD antigen CDw293)
• Protein function: On ligand binding, forms a receptor complex consisting of two type II and two type I transmembrane serine/threonine kinases. Type II receptors phosphorylate and activate type I receptors which autophosphorylate, then bind and activate SMAD transcriptional regulators. Receptor for BMP7/OP-1 and GDF5. Positively regulates chondrocyte differentiation through GDF5 interaction.
• PDB: 3MDY
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01064	Activin_recp	30 → 106	Activin types I and II receptor domain	Domain
  PF08515	TGF_beta_GS	175 → 202	Transforming growth factor beta type I GS-motif	Family
  PF07714	PK_Tyr_Ser-Thr	204 → 491	Protein tyrosine and serine/threonine kinase	Domain

• Sequence:

  MLLRSAGKLNVGTKKEDGESTAPTPRPKVLRCKCHHHCPEDSVNNICSTDGYCFTMIEED
  DSGLPVVTSGCLGLEGSDFQCRDTPIPHQRRSIECCTERNECNKDLHPTLPPLKNRDFVD
  GPIHHRALLISVTVCSLLLVLIILFCYFRYKRQETRPRYSIGLEQDETYIPPGESLRDLI
  EQSQSSGSGSGLPLLVQRTIAKQIQMVKQIGKGRYGEVWMGKWRGEKVAVKVFFTTEEAS
  WFRETEIYQTVLMRHENILGFIAADIKGTGSWTQLYLITDYHENGSLYDYLKSTTLDAKS
  MLKLAYSSVSGLCHLHTEIFSTQGKPAIAHRDLKSKNILVKKNGTCCIADLGLAVKFISD
  TNEVDIPPNTRVGTKRYMPPEVLDESLNRNHFQSYIMADMYSFGLILWEVARRCVSGGIV
  EEYQLPYHDLVPSDPSYEDMREIVCIKKLRPSFPNRWSSDECLRQMGKLMTECWAHNPAS
  RLTALRVKKTLAKMSESQDIKL

• Sequence length: 502

Pathways

KEGG:

Cytokine-cytokine receptor interaction
Hormone signaling
TGF-beta signaling pathway
Axon guidance
Hippo signaling pathway
Signaling pathways regulating pluripotency of stem cells
Fluid shear stress and atherosclerosis

Reactome:

Signaling by BMP

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Pulmonary hypertension	Idiopathic pulmonary hypertension	rs5030847, rs5030850, rs753751183, rs121912592, rs121912593, rs121912596, rs121918359, rs137852741, rs137852742, rs137852743, rs137852744, rs137852745, rs137852746, rs137852747, rs137852748, rs137852749, rs137852750, rs137852751, rs137852752, rs137852753, rs483352902, rs-1, rs137852756, rs1559129372, rs587777017, rs879255566, rs397514716, rs398123039, rs398123041, rs398123042, rs398123043, rs199475679, rs587780295, rs863223423, rs863223426, rs863223424, rs863223420, rs863223422, rs758683062, rs869025366, rs869025367, rs876657748, rs878854272, rs886039219, rs886039223, rs886039220, rs886039221, rs886039222, rs886039673, rs886041324, rs369061090, rs200214298, rs758724746, rs1060502576, rs1060502581, rs1060502584, rs1064794258, rs1085307144, rs1085307145, rs1085307146, rs1085307148, rs1085307147, rs1085307149, rs1085307150, rs1085307151, rs1085307152, rs1085307153, rs1085307154, rs370120266, rs1085307155, rs1085307156, rs1085307157, rs1085307158, rs1085307159, rs1085307160, rs1085307161, rs1085307162, rs1085307163, rs1085307164, rs1085307165, rs1085307166, rs1085307169, rs1085307170, rs1085307171, rs1085307172, rs1553503200, rs1085307173, rs1085307174, rs1085307175, rs1085307176, rs1085307177, rs1085307178, rs1085307179, rs1085307180, rs1085307181, rs1085307182, rs1085307184, rs1085307185, rs1085307186, rs1085307187, rs1085307188, rs1085307190, rs1085307191, rs1553503473, rs1085307192, rs368090069, rs1085307193, rs1085307194, rs1085307195, rs1085307196, rs1085307197, rs1085307198, rs1085307199, rs1085307201, rs1085307202, rs1085307203, rs1085307204, rs1085307205, rs1085307208, rs1085307209, rs1085307210, rs1085307211, rs1085307212, rs1085307213, rs1085307214, rs1085307215, rs1085307216, rs1085307217, rs1085307219, rs1085307220, rs1085307221, rs1085307222, rs1085307223, rs1085307224, rs1085307225, rs1085307226, rs1085307227, rs1085307228, rs1085307229, rs1085307230, rs1085307231, rs1085307232, rs1085307233, rs1085307234, rs1085307235, rs1085307236, rs1085307237, rs1085307239, rs1085307240, rs1085307242, rs1085307243, rs1085307245, rs1085307246, rs1085307247, rs1085307248, rs1085307249, rs1085307250, rs1085307251, rs1085307252, rs1085307253, rs1085307254, rs1085307255, rs1085307256, rs1085307257, rs1085307258, rs1085307259, rs1085307260, rs1085307261, rs1085307262, rs1085307263, rs1085307265, rs1085307266, rs1085307267, rs1085307268, rs576091247, rs1085307269, rs1085307270, rs1085307271, rs1085307272, rs200948870, rs1085307273, rs1085307275, rs1085307276, rs1085307277, rs1085307278, rs1085307279, rs1085307281, rs1085307282, rs1085307283, rs1085307284, rs1085307285, rs1085307286, rs1085307287, rs1085307290, rs1085307291, rs1085307292, rs1085307294, rs1085307295, rs1085307296, rs1085307297, rs1085307298, rs1085307301, rs748230358, rs1085307303, rs1085307304, rs1085307306, rs1085307307, rs1085307308, rs1085307311, rs946132834, rs1085307313, rs1085307315, rs1085307316, rs1085307317, rs1085307318, rs1553509997, rs1085307319, rs1085307320, rs1085307321, rs1085307322, rs1085307324, rs1085307325, rs1085307326, rs1085307327, rs1085307328, rs767070218, rs1085307329, rs1085307330, rs1085307331, rs1085307332, rs1085307333, rs1085307334, rs1085307335, rs1085307336, rs1085307337, rs1085307338, rs868369541, rs1085307339, rs1085307340, rs1085307342, rs1085307343, rs1085307344, rs1085307345, rs1085307346, rs1085307347, rs1085307348, rs1085307349, rs1085307350, rs1085307351, rs1085307352, rs1085307353, rs937502048, rs1085307355, rs1085307356, rs1085307357, rs1085307358, rs1085307359, rs1085307360, rs1085307361, rs1085307362, rs780722371, rs1085307363, rs1085307365, rs1085307366, rs759990771, rs765887545, rs777458559, rs1085307369, rs1085307370, rs1085307371, rs1085307372, rs759293027, rs1085307373, rs1085307374, rs1085307375, rs1085307376, rs1085307377, rs1085307378, rs1085307379, rs1085307380, rs1085307381, rs1085307382, rs1085307383, rs1085307384, rs1085307385, rs1085307386, rs1085307387, rs1085307389, rs1085307388, rs1085307390, rs1085307391, rs1085307392, rs1085307393, rs1085307394, rs1085307395, rs1006246556, rs1085307396, rs1085307397, rs1085307398, rs1085307399, rs1085307400, rs769603144, rs1085307401, rs1085307402, rs1085307403, rs1085307438, rs1085307436, rs1085307410, rs1085307411, rs1085307412, rs1085307414, rs1085307417, rs1085307419, rs1085307425, rs1085307426, rs121909288, rs1085307183, rs1085307218, rs1085307238, rs1085307302, rs1085307310, rs772497399, rs1326644714, rs1553509984, rs1553508321, rs1288123680, rs1375304341, rs1553509983, rs770716081, rs1553387422, rs1555883342, rs754897911, rs1553512225, rs1275489342, rs202107577, rs201407486, rs1414143303, rs764384490, rs765484849, rs1318756445, rs1290474919, rs772782772, rs767575696, rs1374322297, rs1559073178, rs1559062859, rs1574505369, rs1574506470, rs1574506949, rs201716417, rs767694281, rs1574548003, rs1603248606, rs1603255224, rs1574464060, rs1574506914, rs1603248167, rs1603255327, rs1603256095, rs1574499954, rs1692288591, rs1687663690, rs1688559190, rs1698355880, rs1264586092	22374147
Gastric cancer	Gastric Adenocarcinoma	rs137854571, rs63751108, rs34612342, rs121908383, rs121909144, rs121909775, rs121909219, rs121909223, rs63750871, rs80359530, rs121964873, rs121913530, rs606231203, rs121918505, rs587776802, rs28933369, rs121912469, rs80358011, rs397507262, rs80359439, rs397507333, rs80359543, rs80358831, rs80359596, rs80358920, rs80358972, rs80359659, rs397507404, rs397514661, rs80359516, rs200495564, rs80358419, rs80359274, rs80359283, rs80358427, rs80358428, rs80358435, rs81002805, rs397507660, rs397507663, rs80359391, rs80359443, rs81002797, rs80359466, rs397507752, rs80359484, rs80359603, rs397507954, rs80359058, rs80359071, rs397507981, rs80359121, rs80357086, rs80357064, rs397508936, rs80357695, rs80357661, rs397509035, rs80357544, rs80357577, rs80357881, rs80357296, rs80356923, rs80356866, rs80357504, rs80357390, rs80357239, rs80358099, rs397509284, rs80357258, rs199474738, rs199474747, rs587779204, rs63750439, rs267608076, rs587779246, rs63749999, rs267608078, rs63751327, rs267607719, rs267607734, rs63750706, rs63751711, rs587779047, rs587779075, rs267607949, rs63750633, rs63750803, rs63751618, rs267608154, rs200640585, rs80358018, rs80357857, rs80357882, rs180177103, rs587779815, rs587779865, rs587779872, rs587780059, rs121912666, rs587780088, rs587780104, rs200432447, rs180177100, rs587780226, rs587780784, rs587776416, rs587781276, rs587781629, rs587781694, rs587781727, rs587781730, rs587781807, rs587781894, rs587781948, rs121913344, rs587782292, rs587782350, rs587782558, rs587782719, rs587782885, rs587783057, rs730881833, rs730881411, rs730881336, rs139770721, rs730881869, rs730881633, rs730882007, rs786203115, rs765123255, rs1553333738, rs762083530, rs786202800, rs17174393, rs55996097, rs750621215, rs786203451, rs747604569, rs764389018, rs786204433, rs786204862, rs772821016, rs779582317, rs863225406, rs193922343, rs759965045, rs63749919, rs760228510, rs746481984, rs762307622, rs876659736, rs876660933, rs747727055, rs1450394308, rs876658348, rs876658431, rs876659326, rs876660444, rs730881369, rs878853865, rs753862052, rs587780024, rs138941496, rs886040739, rs886040744, rs886040347, rs878854957, rs886040123, rs398122662, rs886040942, rs1057517104, rs1057516320, rs1057516683, rs879254046, rs1057517253, rs587781927, rs985033810, rs1057519989, rs775464903, rs374230313, rs758304323, rs1060501599, rs758081262, rs1060500126, rs1060502734, rs587776408, rs1060501695, rs1114167816, rs1114167596, rs1114167667, rs1555460315, rs1135402788, rs1554086196, rs730881919, rs773356478, rs769237459, rs1553653158, rs587782087, rs1555107263, rs1555119940, rs1403784434, rs1342519012, rs751710099, rs1553616361, rs1553619721, rs1270783041, rs775036118, rs1555288557, rs1555460548, rs1555461154, rs1298667185, rs1553622218, rs63751101, rs1349928568, rs771936821, rs1021662947, rs1555921011, rs81002831, rs1555124506, rs1555574803, rs1060502716, rs1555605362, rs747057367, rs1565385010, rs1567554500, rs1567516230, rs1558644995, rs1555591308, rs778306619, rs1566231194, rs1603328466, rs1570406302, rs1586108714, rs768362387, rs1597713777, rs1060502926, rs1597867185, rs1591517571, rs1591663236, rs1593903006, rs1555284779, rs1597096243, rs45459799, rs1597360340, rs587781905, rs864622481, rs1601753141, rs1966858562, rs1966967065, rs1967016153, rs1967113484, rs2080473458, rs1591387978, rs1224428422, rs1597747184, rs2082309297, rs2051929740, rs147542208
Scoliosis	Scoliosis, unspecified	rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085
Schizophrenia	Schizophrenia	rs74315508, rs74315509, rs13447324, rs1558507406, rs387906932, rs387906933, rs-1, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313	30470734
Osteochondrodysplasia	Osteochondrodysplasias	rs386833498, rs104893919, rs104893916, rs386833492, rs121908078, rs386833497, rs386833507, rs200963884, rs121908077, rs786204675, rs763198695, rs1554095433, rs766836061
Coronary artery disease	Coronary Artery Disease	rs137852988, rs121918313, rs-1, rs121918529, rs121918531, rs137852340, rs405509, rs1555800701, rs1215189537	29212778
Skeletal dysplasia	Skeletal dysplasia	rs121912632, rs121912633, rs121912634, rs121912636, rs121912637, rs267607147, rs387906324, rs267607150, rs397514473, rs398123438, rs515726153, rs515726154, rs515726162, rs515726163, rs515726172, rs757011098, rs-1
Prostate cancer	Malignant neoplasm of prostate	rs121909139, rs121909140, rs121909141, rs121909142, rs121909143, rs606231169, rs606231170, rs137852584, rs137852578, rs137852580, rs137852581, rs137852582	17013881
Acromesomelic dysplasia	Acromesomelic dysplasia Hunter-Thompson type, ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE, Acromesomelic dysplasia, Grebe type	rs863223287, rs-1, rs28936683, rs121909350, rs121909351, rs28931582, rs28929479, rs121912739, rs879255257, rs863225041, rs863225042, rs745854387, rs1057519324, rs1057519335, rs1057519334, rs1057519333, rs1057519336, rs1177728492, rs753644648, rs771373457, rs749952755, rs1828106198, rs1311857509, rs1828226013, rs1827867580, rs1828356952, rs1828565145, rs1828107536	29322508, 15805157, 26105076, 24129431
Brachydactyly	Brachydactyly, Brachydactyly syndrome type C, BRACHYDACTYLY, TYPE A2, Brachydactyly type C, BRACHYDACTYLY, TYPE A1 (disorder), BRACHYDACTYLY, TYPE A1, D, Brachydactyly type A1, Brachydactyly type A2	rs121908949, rs28937580, rs121909082, rs104894122, rs863223289, rs863223290, rs104894121, rs1587657302, rs863223292, rs74315386, rs74315387, rs-1, rs28936397, rs753691079, rs121909348, rs121917852, rs121917853, rs121917854, rs121917855, rs121917859, rs121917861, rs267606873, rs267606872, rs267606985, rs267606986, rs267606987, rs267606988, rs28933082, rs397514519, rs869025613, rs869025614, rs886039878, rs1553540620, rs1057518333, rs1948841937, rs1948868228, rs1948842030, rs1948842142	16957682, 14523231, 18203755, 25758993
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, rs-1, 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	22374147
Chondrodysplasia punctata	Chondrodysplasia, Grebe type, Chondrodysplasia, acromesomelic, with genital anomalies	rs80338714, rs398122843, rs121434599, rs-1, rs121434604, rs2107055197, rs2089231699	24129431, 15805157
Sarcoma	Sarcoma	rs11540652, rs104886003, rs137852790, rs1555927374

Unknown
Disease name	Disease term	dbSNP ID	References
Bone disease	Bone Diseases, Developmental		15805157
Camptodactyly of fingers	Clinodactyly of the 5th finger
Carpal synostosis	Carpal synostosis
Congenital clubfoot	Congenital clubfoot
Diverticular bleeding	Diverticular Bleeding		30177863
Diverticular diseases	Diverticular Diseases		30177863
Dwarfism	Dwarfism
Fibular aplasia-complex brachydactyly syndrome	Fibular aplasia-complex brachydactyly syndrome
Fibular hypoplasia and complex brachydactyly	Fibular hypoplasia and complex brachydactyly		26105076
Hypogonadism	Primary hypogonadism
Hypoplasia of thumb	Hypoplasia of thumb
Metastatic melanoma	Metastatic melanoma
Micromelia	Micromelia
Physiologic amenorrhea	Primary physiologic amenorrhea
Premature menopause	Premature Menopause		15805157
Prostatic neoplasms	Prostatic Neoplasms		17013881
Syndactyly of the toes	2-3 toe syndactyly
Talipes transversoplanus	Talipes transversoplanus
Tarsal coalition	Tarsal Coalition
Postaxial hand polydactyly	Ulnar polydactyly of fingers