TNFRSF11A (TNF receptor superfamily member 11a)

Gene

• Entrez ID: 8792
• Gene name: TNF receptor superfamily member 11a
• Gene symbol: TNFRSF11A
• Synonyms: CD265, FEO, LOH18CR1, ODFR, OFE, OPTB7, OSTS, PDB2, RANK, TRANCE-R, TRANCER
• Chromosome: 18
• Chromosome location: 18q21.33
• Summary: The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptors can interact with various TRAF family proteins, through which this receptor induces the activation of NF-kappa B and MAPK8/JNK. This receptor and its ligand are i

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs34966542	T>G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, intron variant, synonymous variant
rs121908655	A>G	Pathogenic	Missense variant, coding sequence variant
rs121908656	T>C	Pathogenic	Missense variant, coding sequence variant
rs121908657	C>T	Uncertain-significance, pathogenic	Missense variant, synonymous variant, coding sequence variant
rs121908658	G>T	Pathogenic	Missense variant, intron variant, stop gained, coding sequence variant
rs121908659	G>A,C	Pathogenic	Missense variant, synonymous variant, coding sequence variant, 5 prime UTR variant
rs547088539	G>A	Conflicting-interpretations-of-pathogenicity	Intron variant, coding sequence variant, synonymous variant
rs772863037	G>A	Conflicting-interpretations-of-pathogenicity	Missense variant, synonymous variant, coding sequence variant
rs776173779	C>T	Conflicting-interpretations-of-pathogenicity	Missense variant, intron variant, coding sequence variant
rs796051862	->GCTGCTGCTGCTCTGCGCGCTGCTCGC	Pathogenic	Genic upstream transcript variant, inframe insertion, 5 prime UTR variant, coding sequence variant
rs879253796	->CTGCTCTGCGCGCTGCTC	Pathogenic	Coding sequence variant, genic upstream transcript variant, inframe insertion, 5 prime UTR variant
rs886037749	->GCTGCTCTGCGCGCTGCT	Pathogenic	Coding sequence variant, genic upstream transcript variant, inframe insertion, 5 prime UTR variant
rs1555767678	->CTCTGCGCGCTGCTC	Pathogenic	Inframe insertion, 5 prime UTR variant, genic upstream transcript variant, coding sequence variant
rs1600406856	GCA>CC	Likely-pathogenic	Coding sequence variant, frameshift variant, intron variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT029973	hsa-miR-26b-5p	Microarray	19088304
MIRT054780	hsa-miR-503-5p	Luciferase reporter assay, Microarray, Northern blot, qRT-PCR, Western blot	23821519
MIRT553480	hsa-miR-3150a-5p	PAR-CLIP	21572407
MIRT553479	hsa-miR-3150b-5p	PAR-CLIP	21572407
MIRT543104	hsa-miR-590-3p	PAR-CLIP	21572407
MIRT543103	hsa-miR-576-3p	PAR-CLIP	21572407
MIRT543102	hsa-miR-548aj-5p	PAR-CLIP	21572407
MIRT543101	hsa-miR-548f-5p	PAR-CLIP	21572407
MIRT543100	hsa-miR-548g-5p	PAR-CLIP	21572407
MIRT543099	hsa-miR-548x-5p	PAR-CLIP	21572407
MIRT543098	hsa-miR-1468-3p	PAR-CLIP	21572407
MIRT553478	hsa-miR-3160-5p	PAR-CLIP	21572407
MIRT543097	hsa-miR-19a-3p	PAR-CLIP	21572407
MIRT543096	hsa-miR-19b-3p	PAR-CLIP	21572407
MIRT543094	hsa-miR-4775	PAR-CLIP	21572407
MIRT543095	hsa-miR-548aw	PAR-CLIP	21572407
MIRT543093	hsa-miR-552-5p	PAR-CLIP	21572407
MIRT543104	hsa-miR-590-3p	PAR-CLIP	21572407
MIRT543103	hsa-miR-576-3p	PAR-CLIP	21572407
MIRT543102	hsa-miR-548aj-5p	PAR-CLIP	21572407
MIRT543101	hsa-miR-548f-5p	PAR-CLIP	21572407
MIRT543100	hsa-miR-548g-5p	PAR-CLIP	21572407
MIRT543099	hsa-miR-548x-5p	PAR-CLIP	21572407
MIRT543098	hsa-miR-1468-3p	PAR-CLIP	21572407
MIRT543097	hsa-miR-19a-3p	PAR-CLIP	21572407
MIRT543096	hsa-miR-19b-3p	PAR-CLIP	21572407
MIRT543094	hsa-miR-4775	PAR-CLIP	21572407
MIRT543095	hsa-miR-548aw	PAR-CLIP	21572407
MIRT543093	hsa-miR-552-5p	PAR-CLIP	21572407
MIRT553480	hsa-miR-3150a-5p	PAR-CLIP	21572407
MIRT553479	hsa-miR-3150b-5p	PAR-CLIP	21572407
MIRT543104	hsa-miR-590-3p	PAR-CLIP	21572407
MIRT543103	hsa-miR-576-3p	PAR-CLIP	21572407
MIRT543102	hsa-miR-548aj-5p	PAR-CLIP	21572407
MIRT543101	hsa-miR-548f-5p	PAR-CLIP	21572407
MIRT543100	hsa-miR-548g-5p	PAR-CLIP	21572407
MIRT543099	hsa-miR-548x-5p	PAR-CLIP	21572407
MIRT543098	hsa-miR-1468-3p	PAR-CLIP	21572407
MIRT553478	hsa-miR-3160-5p	PAR-CLIP	21572407
MIRT543097	hsa-miR-19a-3p	PAR-CLIP	21572407
MIRT543096	hsa-miR-19b-3p	PAR-CLIP	21572407
MIRT543094	hsa-miR-4775	PAR-CLIP	21572407
MIRT543095	hsa-miR-548aw	PAR-CLIP	21572407
MIRT543093	hsa-miR-552-5p	PAR-CLIP	21572407
MIRT543104	hsa-miR-590-3p	PAR-CLIP	21572407
MIRT543103	hsa-miR-576-3p	PAR-CLIP	21572407
MIRT543102	hsa-miR-548aj-5p	PAR-CLIP	21572407
MIRT543101	hsa-miR-548f-5p	PAR-CLIP	21572407
MIRT543100	hsa-miR-548g-5p	PAR-CLIP	21572407
MIRT543099	hsa-miR-548x-5p	PAR-CLIP	21572407
MIRT543098	hsa-miR-1468-3p	PAR-CLIP	21572407
MIRT543097	hsa-miR-19a-3p	PAR-CLIP	21572407
MIRT543096	hsa-miR-19b-3p	PAR-CLIP	21572407
MIRT543094	hsa-miR-4775	PAR-CLIP	21572407
MIRT543095	hsa-miR-548aw	PAR-CLIP	21572407
MIRT543093	hsa-miR-552-5p	PAR-CLIP	21572407
MIRT1442842	hsa-miR-1251	CLIP-seq
MIRT1442843	hsa-miR-1273e	CLIP-seq
MIRT1442844	hsa-miR-136	CLIP-seq
MIRT1442845	hsa-miR-3122	CLIP-seq
MIRT1442846	hsa-miR-3180-5p	CLIP-seq
MIRT1442847	hsa-miR-3614-5p	CLIP-seq
MIRT1442848	hsa-miR-3672	CLIP-seq
MIRT1442849	hsa-miR-3675-5p	CLIP-seq
MIRT1442850	hsa-miR-3689a-3p	CLIP-seq
MIRT1442851	hsa-miR-3689c	CLIP-seq
MIRT1442852	hsa-miR-3913-5p	CLIP-seq
MIRT1442853	hsa-miR-4293	CLIP-seq
MIRT1442854	hsa-miR-4505	CLIP-seq
MIRT1442855	hsa-miR-4640-5p	CLIP-seq
MIRT1442856	hsa-miR-4668-5p	CLIP-seq
MIRT1442857	hsa-miR-4671-5p	CLIP-seq
MIRT1442858	hsa-miR-4712-5p	CLIP-seq
MIRT1442859	hsa-miR-4726-5p	CLIP-seq
MIRT1442860	hsa-miR-4728-5p	CLIP-seq
MIRT1442861	hsa-miR-4786-5p	CLIP-seq
MIRT1442862	hsa-miR-4793-3p	CLIP-seq
MIRT1442863	hsa-miR-485-5p	CLIP-seq
MIRT1442864	hsa-miR-515-5p	CLIP-seq
MIRT1442865	hsa-miR-520a-5p	CLIP-seq
MIRT1442866	hsa-miR-525-5p	CLIP-seq
MIRT1442867	hsa-miR-541	CLIP-seq
MIRT1442868	hsa-miR-555	CLIP-seq
MIRT1442869	hsa-miR-570	CLIP-seq
MIRT1442870	hsa-miR-596	CLIP-seq
MIRT1442871	hsa-miR-625	CLIP-seq
MIRT1442872	hsa-miR-654-5p	CLIP-seq
MIRT1442873	hsa-miR-661	CLIP-seq
MIRT1442874	hsa-miR-769-5p	CLIP-seq
MIRT1442875	hsa-miR-770-5p	CLIP-seq
MIRT1442876	hsa-miR-890	CLIP-seq
MIRT1442844	hsa-miR-136	CLIP-seq
MIRT2132528	hsa-miR-3150b-3p	CLIP-seq
MIRT2132529	hsa-miR-3175	CLIP-seq
MIRT2132530	hsa-miR-3198	CLIP-seq
MIRT1442850	hsa-miR-3689a-3p	CLIP-seq
MIRT1442851	hsa-miR-3689c	CLIP-seq
MIRT2132531	hsa-miR-4309	CLIP-seq
MIRT2132532	hsa-miR-432	CLIP-seq
MIRT2132533	hsa-miR-4653-3p	CLIP-seq
MIRT2132534	hsa-miR-4689	CLIP-seq
MIRT1442860	hsa-miR-4728-5p	CLIP-seq
MIRT2132535	hsa-miR-4784	CLIP-seq
MIRT1442864	hsa-miR-515-5p	CLIP-seq
MIRT1442876	hsa-miR-890	CLIP-seq
MIRT2132536	hsa-miR-891b	CLIP-seq
MIRT1442844	hsa-miR-136	CLIP-seq
MIRT1442846	hsa-miR-3180-5p	CLIP-seq
MIRT1442850	hsa-miR-3689a-3p	CLIP-seq
MIRT1442851	hsa-miR-3689c	CLIP-seq
MIRT2353503	hsa-miR-3942-3p	CLIP-seq
MIRT2353504	hsa-miR-4517	CLIP-seq
MIRT1442857	hsa-miR-4671-5p	CLIP-seq
MIRT2353505	hsa-miR-4719	CLIP-seq
MIRT1442860	hsa-miR-4728-5p	CLIP-seq
MIRT1442864	hsa-miR-515-5p	CLIP-seq
MIRT1442865	hsa-miR-520a-5p	CLIP-seq
MIRT1442866	hsa-miR-525-5p	CLIP-seq
MIRT1442874	hsa-miR-769-5p	CLIP-seq
MIRT2396114	hsa-miR-1184	CLIP-seq
MIRT1442876	hsa-miR-890	CLIP-seq
MIRT1442845	hsa-miR-3122	CLIP-seq
MIRT2462057	hsa-miR-3652	CLIP-seq
MIRT1442850	hsa-miR-3689a-3p	CLIP-seq
MIRT1442851	hsa-miR-3689c	CLIP-seq
MIRT1442852	hsa-miR-3913-5p	CLIP-seq
MIRT2462058	hsa-miR-4430	CLIP-seq
MIRT1442858	hsa-miR-4712-5p	CLIP-seq
MIRT1442860	hsa-miR-4728-5p	CLIP-seq
MIRT1442863	hsa-miR-485-5p	CLIP-seq
MIRT1442875	hsa-miR-770-5p	CLIP-seq
MIRT1442845	hsa-miR-3122	CLIP-seq
MIRT2647683	hsa-miR-3135b	CLIP-seq
MIRT2462057	hsa-miR-3652	CLIP-seq
MIRT1442850	hsa-miR-3689a-3p	CLIP-seq
MIRT1442851	hsa-miR-3689c	CLIP-seq
MIRT1442852	hsa-miR-3913-5p	CLIP-seq
MIRT2462058	hsa-miR-4430	CLIP-seq
MIRT1442858	hsa-miR-4712-5p	CLIP-seq
MIRT1442860	hsa-miR-4728-5p	CLIP-seq
MIRT1442863	hsa-miR-485-5p	CLIP-seq
MIRT1442875	hsa-miR-770-5p	CLIP-seq
MIRT1442845	hsa-miR-3122	CLIP-seq
MIRT2647683	hsa-miR-3135b	CLIP-seq
MIRT2462057	hsa-miR-3652	CLIP-seq
MIRT1442850	hsa-miR-3689a-3p	CLIP-seq
MIRT1442851	hsa-miR-3689c	CLIP-seq
MIRT1442852	hsa-miR-3913-5p	CLIP-seq
MIRT2462058	hsa-miR-4430	CLIP-seq
MIRT1442858	hsa-miR-4712-5p	CLIP-seq
MIRT1442860	hsa-miR-4728-5p	CLIP-seq
MIRT1442863	hsa-miR-485-5p	CLIP-seq
MIRT1442875	hsa-miR-770-5p	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
SPI1	Unknown	16083856

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001503	Process	Ossification	IBA	21873635
GO:0002250	Process	Adaptive immune response	IMP	18606301
GO:0002548	Process	Monocyte chemotaxis	NAS	15248232
GO:0004888	Function	Transmembrane signaling receptor activity	IDA	9367155
GO:0005031	Function	Tumor necrosis factor-activated receptor activity	IBA	21873635
GO:0005031	Function	Tumor necrosis factor-activated receptor activity	ISS	19940926
GO:0005515	Function	Protein binding	IPI	10075662, 15750601, 23333834, 29844572
GO:0005829	Component	Cytosol	IDA
GO:0005886	Component	Plasma membrane	IDA
GO:0005886	Component	Plasma membrane	TAS
GO:0007165	Process	Signal transduction	TAS	9367155
GO:0007267	Process	Cell-cell signaling	TAS	9367155
GO:0008284	Process	Positive regulation of cell population proliferation	TAS	9367155
GO:0009314	Process	Response to radiation	IEA
GO:0009897	Component	External side of plasma membrane	IBA	21873635
GO:0009897	Component	External side of plasma membrane	IDA	9367155
GO:0016021	Component	Integral component of membrane	IEA
GO:0019955	Function	Cytokine binding	IBA	21873635
GO:0019955	Function	Cytokine binding	IPI	9367155
GO:0030316	Process	Osteoclast differentiation	IMP	18606301
GO:0032496	Process	Response to lipopolysaccharide	ISS	19940926
GO:0033209	Process	Tumor necrosis factor-mediated signaling pathway	ISS	19940926
GO:0033209	Process	Tumor necrosis factor-mediated signaling pathway	TAS
GO:0034097	Process	Response to cytokine	IMP	18606301
GO:0034612	Process	Response to tumor necrosis factor	ISS	19940926
GO:0038023	Function	Signaling receptor activity	TAS	9367155
GO:0043507	Process	Positive regulation of JUN kinase activity	IMP	12296995
GO:0045780	Process	Positive regulation of bone resorption	IBA	21873635
GO:0046872	Function	Metal ion binding	IEA
GO:0048535	Process	Lymph node development	IBA	21873635
GO:0051091	Process	Positive regulation of DNA-binding transcription factor activity	IDA	12296995
GO:0051091	Process	Positive regulation of DNA-binding transcription factor activity	ISS	19940926
GO:0051092	Process	Positive regulation of NF-kappaB transcription factor activity	IBA	21873635
GO:0051092	Process	Positive regulation of NF-kappaB transcription factor activity	IDA	9367155
GO:0051092	Process	Positive regulation of NF-kappaB transcription factor activity	IMP	12296995
GO:0060086	Process	Circadian temperature homeostasis	ISS	19940926
GO:0060749	Process	Mammary gland alveolus development	IBA	21873635
GO:0070555	Process	Response to interleukin-1	IBA	21873635
GO:0070555	Process	Response to interleukin-1	ISS	19940926
GO:0071812	Process	Positive regulation of fever generation by positive regulation of prostaglandin secretion	ISS	19940926
GO:0071847	Process	TNFSF11-mediated signaling pathway	IBA	21873635
GO:0071847	Process	TNFSF11-mediated signaling pathway	IMP	18606301
GO:0071848	Process	Positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling	IMP	18606301
GO:0072674	Process	Multinuclear osteoclast differentiation	IBA	21873635

Other IDs

• MIM: 603499
• HGNC: 11908
• e!Ensembl: ENSG00000141655

Protein

• UniProt ID: Q9Y6Q6
• Protein name: Tumor necrosis factor receptor superfamily member 11A (Osteoclast differentiation factor receptor) (ODFR) (Receptor activator of NF-KB) (CD antigen CD265)
• Protein function: Receptor for TNFSF11/RANKL/TRANCE/OPGL; essential for RANKL-mediated osteoclastogenesis (PubMed:9878548). Its interaction with EEIG1 promotes osteoclastogenesis via facilitating the transcription of NFATC1 and activation of PLCG2 (By similarity)
• PDB: 1LB5
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF18278	RANK_CRD_2	89 → 129	Receptor activator of the NF-KB cysteine-rich repeat domain 2	Domain
  PF00020	TNFR_c6	154 → 194	TNFR/NGFR cysteine-rich region	Domain

• Sequence:

  MAPRARRRRPLFALLLLCALLARLQVALQIAPPCTSEKHYEHLGRCCNKCEPGKYMSSKC
  TTTSDSVCLPCGPDEYLDSWNEEDKCLLHKVCDTGKALVAVVAGNSTTPRRCACTAGYHW
  SQDCECCRRNTECAPGLGAQHPLQLNKDTVCKPCLAGYFSDAFSSTDKCRPWTNCTFLGK
  RVEHHGTEKSDAVCSSSLPARKPPNEPHVYLPGLIILLLFASVALVAAIIFGVCYRKKGK
  ALTANLWHWINEACGRLSGDKESSGDSCVSTHTANFGQQGACEGVLLLTLEEKTFPEDMC
  YPDQGGVCQGTCVGGGPYAQGEDARMLSLVSKTEIEEDSFRQMPTEDEYMDRPSQPTDQL
  LFLTEPGSKSTPPFSEPLEVGENDSLSQCFTGTQSTVGSESCNCTEPLCRTDWTPMSSEN
  YLQKEVDSGHCPHWAASPSPNWADVCTGCRNPPGEDCEPLVGSPKRGPLPQCAYGMGLPP
  EEEASRTEARDQPEDGADGRLPSSARAGAGSGSSPGGQSPASGNVTGNSNSTFISSGQVM
  NFKGDIIVVYVSQTSQEGAAAAAEPMGRPVQEETLARRDSFAGNGPRFPDPCGGPEGLRE
  PEKASRPVQEQGGAKA

• Sequence length: 616

Pathways

KEGG:

Cytokine-cytokine receptor interaction
NF-kappa B signaling pathway
Osteoclast differentiation
Prolactin signaling pathway
Rheumatoid arthritis

Reactome:

TNFR2 non-canonical NF-kB pathway
TNF receptor superfamily (TNFSF) members mediating non-canonical NF-kB pathway

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Anemia	Anemia	rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966, rs137853122, rs137853123, rs786205060, rs267607121, rs121908584, rs80338697, rs80338699, rs120074166, rs120074167, rs1050828, rs74575103, rs137852314, rs5030868, rs137852316, rs137852317, rs137852318, rs137852319, rs137852320, rs137852321, rs137852322, rs137852323, rs137852324, rs72554665, rs387906468, rs5030872, rs137852326, rs137852333, rs137852327, rs137852328, rs137852329, rs137852330, rs137852331, rs137852332, rs137852334, rs137852335, rs137852336, rs137852339, rs76645461, rs137852340, rs137852341, rs78478128, rs137852343, rs137852344, rs137852345, rs587776730, rs137852346, rs137852347, rs137852349, rs2070404412, rs2070350038, rs2070350009, rs137852303, rs137852304, rs33946267, rs34378160, rs33933298, rs11549407, rs35724775, rs34598529, rs41469945, rs267607201, rs80338694, rs80338696, rs387907018, rs398123546, rs78365220, rs587777100, rs587777101, rs483352840, rs869312752, rs765487627, rs1557229599, rs1557230040, rs1555524842, rs782090947, rs1358275550, rs1557229736, rs1557230573, rs1556323334, rs1233124208, rs1293528130, rs146864395, rs1595503440, rs1603411214, rs137852325, rs1575247302, rs1603411177, rs1336651679, rs782322505
Asthma	Asthma, Childhood asthma	rs324981, rs121912630, rs150116809, rs4950928, rs708494, rs1581842283	31036433, 30929738, 30929738, 31036433
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074
Expansile osteolysis	Familial expansile osteolysis	rs879253796, rs886037749	10615125
Hearing loss	Conductive hearing loss	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
Hydrocephalus	Hydrocephalus	rs387907320, rs369384363, rs387907321, rs372127610, rs770273135, rs797045095, rs797045707, rs769795916, rs781251438, rs922703465, rs376078512, rs1567043467, rs1587149916, rs1586841546
Hyperphosphatasemia with bone disease	Hyperphosphatasemia with bone disease	rs796051868, rs104894091, rs2129878039, rs200071478, rs1307942060	25063546
Hypertension	Hypertensive disease	rs13306026, rs13333226
Macrocephaly	Macrocephaly	rs786204854, rs764333096, rs1557739557
Myasthenia gravis	Myasthenia Gravis, Adult-onset myasthenia gravis	rs5030818, rs121912815, rs121912817, rs121912818, rs121912821, rs75466054, rs121912822, rs121912823, rs794727516, rs764497513, rs376808313, rs1279554995, rs1554802792, rs369251527, rs372760913, rs1554802808, rs769234940, rs201439531, rs1272947184, rs757303526, rs760936252, rs1590576560, rs1838635262	26562150, 25643325
Nystagmus	Nystagmus	rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896
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
Osteopetrosis	Osteopetrosis, Osteopetrosis, Autosomal Recessive 7	rs786205055, rs1562370077, rs119460973, rs1554996130, rs137853149, rs751881962, rs137853150, rs137853151, rs2134438856, rs121908669, rs121908670, rs121908671, rs121908673, rs121908655, rs121908656, rs121908658, rs121908659, rs121434432, rs121434433, rs121434434, rs121434435, rs121434436, rs2137905441, rs121909072, rs863223288, rs398123011, rs387907576, rs397515539, rs267603829, rs587777490, rs139617644, rs794727287, rs573750741, rs886048594, rs777785526, rs1057517365, rs760956030, rs757788894, rs1554250938, rs367567630, rs1208311085, rs1554995350, rs1554995341, rs774308815, rs1458295257, rs1554997884, rs200851583, rs1554998061, rs758977199, rs1554999516, rs371263807, rs1475338876, rs917505107, rs1554995381, rs1554995582, rs1554995706, rs1554997818, rs1554997997, rs748659068, rs377303800, rs1554995009, rs1554999205, rs1300297240, rs1554995330, rs1385741705, rs1554995522, rs1392364437, rs749361897, rs1159666762, rs1269558164, rs1489993984, rs1439348400, rs559224144, rs1567759023, rs1567263375, rs1565156743, rs1590817956, rs1590819834, rs377215024, rs1582396088, rs1353879401, rs1590804397, rs1590819770, rs922106856, rs776436008, rs1855347940, rs761918801, rs1064794323	18606301
Osteoporosis	Osteoporosis	rs72658152, rs72667023, rs587776916, rs72656370, rs768615287
Paget disease	Osteitis Deformans, PAGET DISEASE OF BONE 2, EARLY-ONSET, Juvenile Paget disease, NON RARE IN EUROPE: Paget disease of bone	rs796051862, rs796051869, rs796051870, rs796052213, rs1555767678, rs869025582	11351498, 12673693, 20436471

Unknown
Disease name	Disease term	dbSNP ID	References
Congenital pectus carinatum	Congenital pectus carinatum
Cranial nerve paralysis	Cranial nerve palsies
Dwarfism	Dwarfism
Dysosteosclerosis	Dysosteosclerosis
Eczema	Eczema		30595370
Hyperuricemia	Hyperuricemia
Hypocalcemic seizures	Hypocalcemic seizures
Lymphocytic leukemia	Chronic Lymphocytic Leukemia		16270354
Melanocytic nevus	Melanocytic nevus
Motor delay	Clumsiness - motor delay
Osteopetrosis-hypogammaglobulinemia syndrome	Osteopetrosis-hypogammaglobulinemia syndrome
Osteosarcoma	Osteosarcoma		11351498, 12673693
Brain stem compression	Posterior fossa compression syndrome
Proptosis	Exophthalmos
Vitiligo	Vitiligo		27723757