TNFRSF11B (TNF receptor superfamily member 11b)

Gene

• Entrez ID: 4982
• Gene name: TNF receptor superfamily member 11b
• Gene symbol: TNFRSF11B
• Synonyms: OCIF, OPG, PDB5, TR1
• Chromosome: 8
• Chromosome location: 8q24.12
• Summary: The protein encoded by this gene is a member of the TNF-receptor superfamily. This protein is an osteoblast-secreted decoy receptor that functions as a negative regulator of bone resorption. This protein specifically binds to its ligand, osteoprotegerin l

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs104894091	C>T	Pathogenic	Coding sequence variant, missense variant
rs104894092	A>G	Pathogenic	Coding sequence variant, missense variant
rs144654126	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs146450643	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs200071478	T>C,G	Pathogenic	Missense variant, coding sequence variant
rs786205594	C>A	Likely-pathogenic	Coding sequence variant, missense variant
rs796051868	CGT>-	Pathogenic	Inframe deletion, coding sequence variant
rs1307942060	G>A	Pathogenic	Coding sequence variant, stop gained
rs1554617110	->C	Likely-pathogenic	Coding sequence variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT023202	hsa-miR-124-3p	Microarray	18668037
MIRT031067	hsa-miR-21-5p	Microarray	20371350
MIRT053664	hsa-miR-181a-5p	Microarray	22942087
MIRT1442877	hsa-miR-135a	CLIP-seq
MIRT1442878	hsa-miR-135b	CLIP-seq
MIRT1442879	hsa-miR-3119	CLIP-seq
MIRT1442880	hsa-miR-3160-5p	CLIP-seq
MIRT1442881	hsa-miR-4263	CLIP-seq
MIRT1442882	hsa-miR-576-5p	CLIP-seq
MIRT1555056	hsa-miR-1283	CLIP-seq
MIRT1555057	hsa-miR-1294	CLIP-seq
MIRT1555058	hsa-miR-199a-3p	CLIP-seq
MIRT1555059	hsa-miR-199b-3p	CLIP-seq
MIRT1555060	hsa-miR-216a	CLIP-seq
MIRT1555061	hsa-miR-221	CLIP-seq
MIRT1555062	hsa-miR-222	CLIP-seq
MIRT1555063	hsa-miR-3129-5p	CLIP-seq
MIRT1555064	hsa-miR-3145-3p	CLIP-seq
MIRT1555065	hsa-miR-3163	CLIP-seq
MIRT1555066	hsa-miR-3180-5p	CLIP-seq
MIRT1555067	hsa-miR-330-3p	CLIP-seq
MIRT1555068	hsa-miR-3662	CLIP-seq
MIRT1555069	hsa-miR-371-5p	CLIP-seq
MIRT1555070	hsa-miR-371b-5p	CLIP-seq
MIRT1555071	hsa-miR-3915	CLIP-seq
MIRT1555072	hsa-miR-3928	CLIP-seq
MIRT1555073	hsa-miR-3935	CLIP-seq
MIRT1555074	hsa-miR-4261	CLIP-seq
MIRT1555075	hsa-miR-4282	CLIP-seq
MIRT1555076	hsa-miR-4307	CLIP-seq
MIRT1555077	hsa-miR-4316	CLIP-seq
MIRT1555078	hsa-miR-4496	CLIP-seq
MIRT1555079	hsa-miR-450b-3p	CLIP-seq
MIRT1555080	hsa-miR-4713-3p	CLIP-seq
MIRT1555081	hsa-miR-548v	CLIP-seq
MIRT1555082	hsa-miR-577	CLIP-seq
MIRT1555083	hsa-miR-586	CLIP-seq
MIRT1555084	hsa-miR-587	CLIP-seq
MIRT1555085	hsa-miR-638	CLIP-seq
MIRT1555086	hsa-miR-769-3p	CLIP-seq
MIRT1555087	hsa-miR-885-5p	CLIP-seq
MIRT1555088	hsa-miR-936	CLIP-seq
MIRT2132537	hsa-miR-124	CLIP-seq
MIRT2132538	hsa-miR-1289	CLIP-seq
MIRT1555057	hsa-miR-1294	CLIP-seq
MIRT2132539	hsa-miR-3198	CLIP-seq
MIRT2132540	hsa-miR-3714	CLIP-seq
MIRT2132541	hsa-miR-3910	CLIP-seq
MIRT1555071	hsa-miR-3915	CLIP-seq
MIRT1555072	hsa-miR-3928	CLIP-seq
MIRT2132542	hsa-miR-4294	CLIP-seq
MIRT2132543	hsa-miR-4309	CLIP-seq
MIRT1555077	hsa-miR-4316	CLIP-seq
MIRT1555079	hsa-miR-450b-3p	CLIP-seq
MIRT1555080	hsa-miR-4713-3p	CLIP-seq
MIRT2132544	hsa-miR-506	CLIP-seq
MIRT1555085	hsa-miR-638	CLIP-seq
MIRT1555086	hsa-miR-769-3p	CLIP-seq
MIRT2434154	hsa-miR-1183	CLIP-seq
MIRT2434155	hsa-miR-1251	CLIP-seq
MIRT2434156	hsa-miR-1265	CLIP-seq
MIRT1555056	hsa-miR-1283	CLIP-seq
MIRT2132538	hsa-miR-1289	CLIP-seq
MIRT1442877	hsa-miR-135a	CLIP-seq
MIRT1442878	hsa-miR-135b	CLIP-seq
MIRT2434157	hsa-miR-181a	CLIP-seq
MIRT2434158	hsa-miR-181b	CLIP-seq
MIRT2434159	hsa-miR-181c	CLIP-seq
MIRT2434160	hsa-miR-181d	CLIP-seq
MIRT2434161	hsa-miR-183	CLIP-seq
MIRT2434162	hsa-miR-200b	CLIP-seq
MIRT2434163	hsa-miR-200c	CLIP-seq
MIRT2434164	hsa-miR-2054	CLIP-seq
MIRT2434165	hsa-miR-21	CLIP-seq
MIRT1555060	hsa-miR-216a	CLIP-seq
MIRT1555061	hsa-miR-221	CLIP-seq
MIRT1555062	hsa-miR-222	CLIP-seq
MIRT2434166	hsa-miR-224	CLIP-seq
MIRT2434167	hsa-miR-2392	CLIP-seq
MIRT1442879	hsa-miR-3119	CLIP-seq
MIRT2434168	hsa-miR-3121-3p	CLIP-seq
MIRT1555064	hsa-miR-3145-3p	CLIP-seq
MIRT2434169	hsa-miR-3145-5p	CLIP-seq
MIRT1442880	hsa-miR-3160-5p	CLIP-seq
MIRT1555065	hsa-miR-3163	CLIP-seq
MIRT2434170	hsa-miR-3170	CLIP-seq
MIRT2132539	hsa-miR-3198	CLIP-seq
MIRT2434171	hsa-miR-3200-5p	CLIP-seq
MIRT1555067	hsa-miR-330-3p	CLIP-seq
MIRT2434172	hsa-miR-340	CLIP-seq
MIRT2434173	hsa-miR-34a	CLIP-seq
MIRT2434174	hsa-miR-34c-5p	CLIP-seq
MIRT1555068	hsa-miR-3662	CLIP-seq
MIRT2434175	hsa-miR-3682-3p	CLIP-seq
MIRT1555069	hsa-miR-371-5p	CLIP-seq
MIRT1555070	hsa-miR-371b-5p	CLIP-seq
MIRT2434176	hsa-miR-3908	CLIP-seq
MIRT2434177	hsa-miR-3942-3p	CLIP-seq
MIRT2434178	hsa-miR-3942-5p	CLIP-seq
MIRT2434179	hsa-miR-4255	CLIP-seq
MIRT2434180	hsa-miR-4260	CLIP-seq
MIRT2434181	hsa-miR-4262	CLIP-seq
MIRT1442881	hsa-miR-4263	CLIP-seq
MIRT1555075	hsa-miR-4282	CLIP-seq
MIRT2434182	hsa-miR-429	CLIP-seq
MIRT2132542	hsa-miR-4294	CLIP-seq
MIRT1555076	hsa-miR-4307	CLIP-seq
MIRT2132543	hsa-miR-4309	CLIP-seq
MIRT2434183	hsa-miR-4330	CLIP-seq
MIRT2434184	hsa-miR-4427	CLIP-seq
MIRT2434185	hsa-miR-4443	CLIP-seq
MIRT2434186	hsa-miR-449a	CLIP-seq
MIRT2434187	hsa-miR-449b	CLIP-seq
MIRT1555079	hsa-miR-450b-3p	CLIP-seq
MIRT2434188	hsa-miR-4517	CLIP-seq
MIRT2434189	hsa-miR-4540	CLIP-seq
MIRT2434190	hsa-miR-4645-3p	CLIP-seq
MIRT2434191	hsa-miR-4668-3p	CLIP-seq
MIRT2434192	hsa-miR-4680-3p	CLIP-seq
MIRT2434193	hsa-miR-4703-5p	CLIP-seq
MIRT1555080	hsa-miR-4713-3p	CLIP-seq
MIRT2434194	hsa-miR-4729	CLIP-seq
MIRT2434195	hsa-miR-4753-3p	CLIP-seq
MIRT2434196	hsa-miR-4762-5p	CLIP-seq
MIRT2434197	hsa-miR-4766-3p	CLIP-seq
MIRT2434198	hsa-miR-4768-5p	CLIP-seq
MIRT2434199	hsa-miR-4775	CLIP-seq
MIRT2434200	hsa-miR-4789-5p	CLIP-seq
MIRT2434201	hsa-miR-4799-5p	CLIP-seq
MIRT2434202	hsa-miR-508-5p	CLIP-seq
MIRT2434203	hsa-miR-539	CLIP-seq
MIRT2434204	hsa-miR-548aa	CLIP-seq
MIRT2434205	hsa-miR-548ag	CLIP-seq
MIRT2434206	hsa-miR-548ai	CLIP-seq
MIRT2434207	hsa-miR-548c-3p	CLIP-seq
MIRT1555081	hsa-miR-548v	CLIP-seq
MIRT1442882	hsa-miR-576-5p	CLIP-seq
MIRT1555082	hsa-miR-577	CLIP-seq
MIRT2434208	hsa-miR-579	CLIP-seq
MIRT1555083	hsa-miR-586	CLIP-seq
MIRT1555084	hsa-miR-587	CLIP-seq
MIRT2434209	hsa-miR-590-3p	CLIP-seq
MIRT2434210	hsa-miR-590-5p	CLIP-seq
MIRT2434211	hsa-miR-616	CLIP-seq
MIRT2434212	hsa-miR-629	CLIP-seq
MIRT2434213	hsa-miR-633	CLIP-seq
MIRT1555085	hsa-miR-638	CLIP-seq
MIRT2434214	hsa-miR-656	CLIP-seq
MIRT2434215	hsa-miR-765	CLIP-seq
MIRT1555086	hsa-miR-769-3p	CLIP-seq
MIRT2434216	hsa-miR-802	CLIP-seq
MIRT1555087	hsa-miR-885-5p	CLIP-seq
MIRT1555057	hsa-miR-1294	CLIP-seq
MIRT2434170	hsa-miR-3170	CLIP-seq
MIRT2434180	hsa-miR-4260	CLIP-seq
MIRT1555077	hsa-miR-4316	CLIP-seq
MIRT1555079	hsa-miR-450b-3p	CLIP-seq
MIRT2434190	hsa-miR-4645-3p	CLIP-seq
MIRT1555080	hsa-miR-4713-3p	CLIP-seq
MIRT2434203	hsa-miR-539	CLIP-seq
MIRT2434212	hsa-miR-629	CLIP-seq
MIRT1555085	hsa-miR-638	CLIP-seq
MIRT1555086	hsa-miR-769-3p	CLIP-seq
MIRT2647684	hsa-miR-10a	CLIP-seq
MIRT2647685	hsa-miR-10b	CLIP-seq
MIRT1555057	hsa-miR-1294	CLIP-seq
MIRT2647686	hsa-miR-3150b-3p	CLIP-seq
MIRT2434170	hsa-miR-3170	CLIP-seq
MIRT1555066	hsa-miR-3180-5p	CLIP-seq
MIRT2647687	hsa-miR-3187-3p	CLIP-seq
MIRT2647688	hsa-miR-34c-3p	CLIP-seq
MIRT2647689	hsa-miR-3688-5p	CLIP-seq
MIRT1555071	hsa-miR-3915	CLIP-seq
MIRT1555072	hsa-miR-3928	CLIP-seq
MIRT2434180	hsa-miR-4260	CLIP-seq
MIRT1555074	hsa-miR-4261	CLIP-seq
MIRT1555077	hsa-miR-4316	CLIP-seq
MIRT2647690	hsa-miR-4420	CLIP-seq
MIRT2434185	hsa-miR-4443	CLIP-seq
MIRT2647691	hsa-miR-4470	CLIP-seq
MIRT2647692	hsa-miR-4490	CLIP-seq
MIRT1555078	hsa-miR-4496	CLIP-seq
MIRT1555079	hsa-miR-450b-3p	CLIP-seq
MIRT2647693	hsa-miR-4529-5p	CLIP-seq
MIRT2434189	hsa-miR-4540	CLIP-seq
MIRT2434190	hsa-miR-4645-3p	CLIP-seq
MIRT1555080	hsa-miR-4713-3p	CLIP-seq
MIRT2647694	hsa-miR-4766-5p	CLIP-seq
MIRT2647695	hsa-miR-4784	CLIP-seq
MIRT2647696	hsa-miR-515-5p	CLIP-seq
MIRT2434203	hsa-miR-539	CLIP-seq
MIRT2434212	hsa-miR-629	CLIP-seq
MIRT1555085	hsa-miR-638	CLIP-seq
MIRT2434215	hsa-miR-765	CLIP-seq
MIRT1555086	hsa-miR-769-3p	CLIP-seq
MIRT1555057	hsa-miR-1294	CLIP-seq
MIRT2647686	hsa-miR-3150b-3p	CLIP-seq
MIRT2434170	hsa-miR-3170	CLIP-seq
MIRT1555066	hsa-miR-3180-5p	CLIP-seq
MIRT2647687	hsa-miR-3187-3p	CLIP-seq
MIRT1555071	hsa-miR-3915	CLIP-seq
MIRT1555072	hsa-miR-3928	CLIP-seq
MIRT2434180	hsa-miR-4260	CLIP-seq
MIRT1555074	hsa-miR-4261	CLIP-seq
MIRT1555077	hsa-miR-4316	CLIP-seq
MIRT2434185	hsa-miR-4443	CLIP-seq
MIRT1555078	hsa-miR-4496	CLIP-seq
MIRT1555079	hsa-miR-450b-3p	CLIP-seq
MIRT2647693	hsa-miR-4529-5p	CLIP-seq
MIRT2434189	hsa-miR-4540	CLIP-seq
MIRT2434190	hsa-miR-4645-3p	CLIP-seq
MIRT1555080	hsa-miR-4713-3p	CLIP-seq
MIRT2647695	hsa-miR-4784	CLIP-seq
MIRT2647696	hsa-miR-515-5p	CLIP-seq
MIRT2434203	hsa-miR-539	CLIP-seq
MIRT2434212	hsa-miR-629	CLIP-seq
MIRT1555085	hsa-miR-638	CLIP-seq
MIRT2434215	hsa-miR-765	CLIP-seq
MIRT1555086	hsa-miR-769-3p	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
CREB5	Repression	21132541
HOXC8	Unknown	11139569
PPARG	Unknown	12056809
SMAD1	Unknown	11139569

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001501	Process	Skeletal system development	TAS	9108485
GO:0005125	Function	Cytokine activity	TAS	9168977
GO:0005515	Function	Protein binding	IPI	22664871, 32814053
GO:0005576	Component	Extracellular region	TAS	9108485
GO:0005615	Component	Extracellular space	IDA	15516325
GO:0005886	Component	Plasma membrane	TAS
GO:0006915	Process	Apoptotic process	IEA
GO:0007165	Process	Signal transduction	TAS	9168977
GO:0007584	Process	Response to nutrient	IEA
GO:0030198	Process	Extracellular matrix organization	IEA
GO:0031012	Component	Extracellular matrix	IEA
GO:0032026	Process	Response to magnesium ion	IEA
GO:0033209	Process	Tumor necrosis factor-mediated signaling pathway	TAS
GO:0038023	Function	Signaling receptor activity	TAS	9108485
GO:0042489	Process	Negative regulation of odontogenesis of dentin-containing tooth	IEA
GO:0042493	Process	Response to drug	IEA
GO:0043627	Process	Response to estrogen	IEA
GO:0045779	Process	Negative regulation of bone resorption	IEA
GO:0046685	Process	Response to arsenic-containing substance	IEA

Other IDs

• MIM: 602643
• HGNC: 11909
• e!Ensembl: ENSG00000164761

Protein

• UniProt ID: O00300
• Protein name: Tumor necrosis factor receptor superfamily member 11B (Osteoclastogenesis inhibitory factor) (Osteoprotegerin)
• Protein function: Acts as a decoy receptor for TNFSF11/RANKL and thereby neutralizes its function in osteoclastogenesis. Inhibits the activation of osteoclasts and promotes osteoclast apoptosis in vitro. Bone homeostasis seems to depend on the local ratio between
• PDB: 3URF
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00020	TNFR_c6	25 → 62	TNFR/NGFR cysteine-rich region	Domain
  PF00020	TNFR_c6	65 → 105	TNFR/NGFR cysteine-rich region	Domain
  PF00020	TNFR_c6	107 → 142	TNFR/NGFR cysteine-rich region	Domain
  PF00531	Death	278 → 365	Death domain	Domain

• Sequence:

  MNNLLCCALVFLDISIKWTTQETFPPKYLHYDEETSHQLLCDKCPPGTYLKQHCTAKWKT
  VCAPCPDHYYTDSWHTSDECLYCSPVCKELQYVKQECNRTHNRVCECKEGRYLEIEFCLK
  HRSCPPGFGVVQAGTPERNTVCKRCPDGFFSNETSSKAPCRKHTNCSVFGLLLTQKGNAT
  HDNICSGNSESTQKCGIDVTLCEEAFFRFAVPTKFTPNWLSVLVDNLPGTKVNAESVERI
  KRQHSSQEQTFQLLKLWKHQNKDQDIVKKIIQDIDLCENSVQRHIGHANLTFEQLRSLME
  SLPGKKVGAEDIEKTIKACKPSDQILKLLSLWRIKNGDQDTLKGLMHALKHSKTYHFPKT
  VTQSLKKTIRFLHSFTMYKLYQKLFLEMIGNQVQSVKISCL

• Sequence length: 401

Pathways

KEGG:

Cytokine-cytokine receptor interaction
Osteoclast differentiation

Reactome:

TNFs bind their physiological receptors

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Autoimmune diseases	Autoimmune Diseases, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2	rs41285370, rs869025224	30595370
Chondrocalcinosis	Familial calcium pyrophosphate deposition	rs121908405, rs28939080, rs121908407, rs2126640512, rs121908408, rs121908409, rs121908410
Hearing loss	Sensorineural Hearing Loss (disorder)	rs267607135, rs267606855, rs779841884, rs267606854, rs28942097, rs121908073, rs121908076, rs74315289, rs121908144, rs111033313, rs74315437, rs121908348, rs121908349, rs121908350, rs397515359, rs180177151, rs180177154, rs180177153, rs35689081, rs35887622, rs80338944, rs104894396, rs104894398, rs80338947, rs80338948, rs80338942, rs104894402, rs104894403, rs80338945, rs28931594, rs80338940, rs80338941, rs80356590, rs80338950, rs387906706, rs387906707, rs387906708, rs398122848, rs387907016, rs587776894, rs387907088, rs397515411, rs370965183, rs398122930, rs199897298, rs111033187, rs111033448, rs199606180, rs111033284, rs397516413, rs111033305, rs111033220, rs111033256, rs111033297, rs111033253, rs104894408, rs111033295, rs397516874, rs76434661, rs111033335, rs397517323, rs111033247, rs367928692, rs374793617, rs143939430, rs397515605, rs80338939, rs200656442, rs779748859, rs587781261, rs587781262, rs143343083, rs200147906, rs730880338, rs797044491, rs146281367, rs756484720, rs869025593, rs201306709, rs540895576, rs777777359, rs879255246, rs1554358720, rs142498437, rs377145777, rs1057517519, rs779077039, rs952741388, rs1060499797, rs764139009, rs1060499590, rs1064794012, rs1064797115, rs756790858, rs775633137, rs1554952443, rs1554952193, rs782063761, rs1199012623, rs756147087, rs1555648043, rs1555661490, rs1553196233, rs781546107, rs111033190, rs775428246, rs782539587, rs537227442, rs148695069, rs1554835827, rs953422571, rs1554834186, rs1554834161, rs1554835103, rs1554577339, rs1554577402, rs768471577, rs782279338, rs781951909, rs998045226, rs375759781, rs755804651, rs1557458426, rs767797828, rs538027448, rs1559366084, rs367688416, rs1558480402, rs1558490542, rs1559870857, rs1560690591, rs1561299289, rs1562817224, rs1562817529, rs1562822565, rs1562835391, rs1564113368, rs1564554255, rs773851192, rs1564555240, rs761261855, rs1564805114, rs1565522273, rs1565127413, rs781790246, rs1565430886, rs1565469959, rs746667217, rs1565819402, rs1565855932, rs150529554, rs1567939793, rs201866631, rs754472294, rs1559372512, rs1558464965, rs1558488902, rs775062249, rs1226171550, rs1561590396, rs765574676, rs762876554, rs757327146, rs1564949059, rs1565519673, rs368050948, rs1565541888, rs781989117, rs1565402473, rs750358148, rs1386887007, rs1209665716, rs1567641234, rs1237955948, rs1569042782, rs752672077, rs146689036, rs1560070780, rs149712664, rs1564556995, rs762226905, rs773573968, rs1568528171, rs1198256157, rs377267777, rs370564476, rs1577876794, rs747787770, rs759432278, rs1043716893, rs1581138934, rs2033773650, rs1421964916, rs771766431, rs780917129, rs1895773215, rs1895769400, rs761543680, rs1565920060
Hypercalcemia	Hypercalcemia	rs876657376, rs387907322, rs777676129, rs387907323, rs114368325, rs6068812, rs387907324, rs777947329, rs201304511, rs769409705, rs200095793, rs876661338, rs1554095500, rs139763321, rs774432244, rs781367354	15845617
Hyperphosphatasemia with bone disease	Hyperphosphatasemia with bone disease	rs796051868, rs104894091, rs2129878039, rs200071478, rs1307942060	12124406
Hypertension	Hypertensive disease	rs13306026, rs13333226
Hypothyroidism	Hypothyroidism	rs869320723, rs121908862, rs121908863, rs121908865, rs121908866, rs121908867, rs121908870, rs121908871, rs121908872, rs2140110277, rs121908881, rs121908884, rs121908885, rs786205080, rs1586182912, rs121917847, rs104893655, rs104893657, rs104893658, rs104893659, rs104893660, rs104893656, rs121917719, rs786204790, rs189261858, rs879255608, rs868197660, rs879255609, rs1586744173, rs1586182837, rs771222349, rs1587618417, rs1601844140, rs760832986, rs780982673, rs1603336347, rs1691155605	30595370
Macrocephaly	Macrocephaly	rs786204854, rs764333096, rs1557739557
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
Osteoporosis	Osteoporosis, Age-Related, Osteoporosis, Osteoporosis, Senile, Post-Traumatic Osteoporosis	rs72658152, rs72667023, rs587776916, rs72656370, rs768615287	17667143
Paget disease	Juvenile Paget disease	rs796051862, rs796051869, rs796051870, rs796052213, rs1555767678, rs869025582
Rheumatoid arthritis	Rheumatoid Arthritis	rs3766379, rs3792876, rs2071592, rs3087456, rs587776843, rs1566328963, rs2240340, rs1557787212	23333834

Unknown
Disease name	Disease term	dbSNP ID	References
Angioid streaks	Angioid Streaks
Carotid artery stenosis	Carotid Stenosis		26564003
Common carotid artery stenosis	Common Carotid Artery Stenosis		26564003
Congenital pectus carinatum	Congenital pectus carinatum
Dwarfism	Dwarfism
External carotid artery stenosis	External Carotid Artery Stenosis		26564003
Hyperphosphatemia	Hyperphosphatemia (disorder)
Hyperuricemia	Hyperuricemia
Internal carotid artery stenosis	Internal Carotid Artery Stenosis		26564003
Melanocytic nevus	Melanocytic nevus
Milk-alkali syndrome	Milk-Alkali Syndrome		15845617
Osteosclerosis	Osteosclerosis
Uremia	Uremia		19092814