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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:bone remodeling disease
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Accession:DOID:0080005 term browser browse the term
Definition:A bone disease that results_in formation or resorption abnormalities located_in bone. (DO)
Synonyms:primary_id: RDO:9004304
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
Acro-Osteolysis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Smad4 SMAD family member 4 ISO associated with Juvenile Polyposis Syndrome;DNA:nonsense mutation:exon:p.Y412X (1236C>G) (human) RGD PMID:15990641 RGD:12880041 NCBI chr18:69,626,682...69,657,373
Ensembl chr18:69,627,757...69,671,199
JBrowse link
G Zmpste24 zinc metallopeptidase STE24 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12913070, PMID:17152860 NCBI chr 5:139,982,404...140,015,541
Ensembl chr 5:139,983,680...140,015,541
JBrowse link
Alveolar Bone Loss term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alpl alkaline phosphatase, biomineralization associated ISO CTD Direct Evidence: marker/mechanism CTD PMID:20630305 NCBI chr 5:156,086,496...156,141,513
Ensembl chr 5:156,086,497...156,141,537
JBrowse link
G Ccr2 C-C motif chemokine receptor 2 ISO associated with Periodontitis; RGD PMID:21241302 RGD:8661687
G Il10 interleukin 10 treatment IEP associated with Diabetes Mellitus, Experimental RGD PMID:26270535 RGD:11049527 NCBI chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392
JBrowse link
G Parp1 poly (ADP-ribose) polymerase 1 ISO RGD PMID:14630900 RGD:10413909 NCBI chr13:98,857,255...98,889,444
Ensembl chr13:98,857,177...98,889,716
JBrowse link
G Tnf tumor necrosis factor treatment IEP associated with Diabetes Mellitus, Experimental RGD PMID:26270535 RGD:11049527 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
G Tnfsf11 TNF superfamily member 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19249596 NCBI chr15:60,482,527...60,512,704
Ensembl chr15:60,482,527...60,512,704
JBrowse link
autosomal dominant craniodiaphyseal dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sost sclerostin ISO ClinVar Annotator: match by OMIM:122860 OMIM
ClinVar
PMID:17853455, PMID:21221996 NCBI chr10:89,897,087...89,900,131
Ensembl chr10:89,897,087...89,900,131
JBrowse link
autosomal dominant craniometaphyseal dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ankh ANKH inorganic pyrophosphate transport regulator ISO ClinVar Annotator: match by term: Craniometaphyseal dysplasia Jackson type
ClinVar Annotator: match by OMIM:123000
ClinVar
OMIM
PMID:2712793, PMID:11326272, PMID:11326338, PMID:19449425, PMID:20358596, PMID:26467025, PMID:28492532, PMID:30311386, PMID:11326272 RGD:734571 NCBI chr 2:80,131,563...80,256,948
Ensembl chr 2:80,131,563...80,256,954
JBrowse link
G Otulin OTU deubiquitinase with linear linkage specificity ISO ClinVar Annotator: match by term: Craniometaphyseal dysplasia, autosomal dominant
ClinVar Annotator: match by term: Craniometaphyseal dysplasia Jackson type
ClinVar PMID:2712793, PMID:11326272, PMID:11326338, PMID:19449425, PMID:20358596, PMID:28492532 NCBI chr 2:80,267,724...80,293,204
Ensembl chr 2:80,269,587...80,293,181
JBrowse link
autosomal dominant hypophosphatemic rickets term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgf23 fibroblast growth factor 23 ISO DNA:missense mutations:exon:p.R176Q (527G>A), p.R179W (535C>T), p.R179Q (536G>A) (human)
ClinVar Annotator: match by term: Autosomal dominant hypophosphatemic rickets
ClinVar Annotator: match by term: Hypophosphatemic Rickets, Dominant
DNA:missense mutation:cds:526C>T,p.R176W (human)
ClinVar Annotator: match by OMIM:193100
ClinVar
OMIM
PMID:1353055, PMID:5173181, PMID:9024275, PMID:11062477, PMID:11409890, PMID:11737582, PMID:11805436, PMID:12050201, PMID:12130585, PMID:12711740, PMID:12851820, PMID:12874285, PMID:15182416, PMID:15590700, PMID:15628294, PMID:15836777, PMID:15885032, PMID:16436388, PMID:17227222, PMID:17452648, PMID:17623664, PMID:17992255, PMID:18682534, PMID:18982401, PMID:21880793, PMID:22419710, PMID:24033266, PMID:25445451, PMID:26186302, PMID:26467025, PMID:28492532, PMID:11062477, PMID:19655082 RGD:1598933, RGD:10044239 NCBI chr 4:159,622,404...159,630,082
Ensembl chr 4:159,622,404...159,630,082
JBrowse link
autosomal dominant osteopetrosis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lrp5 LDL receptor related protein 5 ISO ClinVar Annotator: match by term: Autosomal dominant osteopetrosis 1
ClinVar Annotator: match by OMIM:607634
OMIM
ClinVar
PMID:10434540, PMID:11741193, PMID:12015390, PMID:12579474, PMID:25741868, PMID:28492532 NCBI chr 1:218,816,833...218,920,147
Ensembl chr 1:218,816,841...218,920,094
JBrowse link
autosomal dominant osteopetrosis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clcn7 chloride voltage-gated channel 7 ISO ClinVar Annotator: match by term: Osteopetrosis autosomal dominant type 2 OMIM
ClinVar
PMID:1516225, PMID:11468688, PMID:11741829, PMID:23296056, PMID:25741868 NCBI chr10:14,492,844...14,518,167
Ensembl chr10:14,492,844...14,516,894
JBrowse link
Autosomal Dominant Osteopetrosis 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Plekhm1 pleckstrin homology and RUN domain containing M1 ISO ClinVar Annotator: match by term: OSTEOPETROSIS, AUTOSOMAL DOMINANT 3 ClinVar
OMIM
PMID:17997709 NCBI chr10:91,451,890...91,500,675
Ensembl chr10:91,451,865...91,500,661
JBrowse link
autosomal recessive craniometaphyseal dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gja1 gap junction protein, alpha 1 ISO ClinVar Annotator: match by term: Craniometaphyseal dysplasia, autosomal recessive type OMIM
ClinVar
PMID:11146471, PMID:23951358, PMID:25741868 NCBI chr20:37,876,650...37,889,097
Ensembl chr20:37,876,650...37,889,089
JBrowse link
autosomal recessive hypophosphatemic rickets term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dmp1 dentin matrix acidic phosphoprotein 1 ISO
ISS
ClinVar Annotator: match by term: Hypophosphatemic Rickets, Recessive
OMIM:241520 | OMIM:613312
ClinVar
MouseDO
NCBI chr14:6,889,851...6,923,961
Ensembl chr14:6,889,856...6,900,733
JBrowse link
G Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 ISO
ISS
ClinVar Annotator: match by term: Hypophosphatemic Rickets, Recessive
OMIM:241520 | OMIM:613312
ClinVar
MouseDO
PMID:24033266, PMID:28492532 NCBI chr 1:21,748,201...21,813,205
Ensembl chr 1:21,748,261...21,813,371
JBrowse link
autosomal recessive osteopetrosis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc154 coiled-coil domain containing 154 ISS OMIM:259700 MouseDO NCBI chr10:14,518,240...14,529,920
Ensembl chr10:14,519,164...14,528,277
JBrowse link
G Tcirg1 T-cell immune regulator 1, ATPase H+ transporting V0 subunit A3 ISO DNA:deletions, snps:exons:multiple (human)
ClinVar Annotator: match by term: Autosomal recessive osteopetrosis 1
ClinVar Annotator: match by term: Osteopetrosis autosomal recessive 1
ClinVar Annotator: match by OMIM:259700
ClinVar
OMIM
PMID:9506970, PMID:10888887, PMID:10942435, PMID:11532986, PMID:12507890, PMID:12552563, PMID:12566520, PMID:14675409, PMID:15300850, PMID:18715141, PMID:19448635, PMID:19507210, PMID:20424301, PMID:21042819, PMID:22231430, PMID:23412864, PMID:23721911, PMID:24033266, PMID:24101165, PMID:24535484, PMID:24753205, PMID:24989235, PMID:25018813, PMID:25326635, PMID:25525159, PMID:25741868, PMID:25829125, PMID:26264438, PMID:26777052, PMID:27229898, PMID:28492532, PMID:28604959, PMID:30311386, PMID:30431110, PMID:30539151, PMID:31949762, PMID:10888887 RGD:1599350 NCBI chr 1:219,126,687...219,139,466
Ensembl chr 1:219,127,602...219,139,464
JBrowse link
autosomal recessive osteopetrosis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tnfsf11 TNF superfamily member 11 ISO ClinVar Annotator: match by term: Autosomal recessive osteopetrosis 2
ClinVar Annotator: match by OMIM:259710
OMIM
ClinVar
PMID:17632511, PMID:20499338, PMID:21541994, PMID:28492532 NCBI chr15:60,482,527...60,512,704
Ensembl chr15:60,482,527...60,512,704
JBrowse link
autosomal recessive osteopetrosis 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Car2 carbonic anhydrase 2 ISO ClinVar Annotator: match by term: Osteopetrosis with renal tubular acidosis
ClinVar Annotator: match by OMIM:259730
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:1301935, PMID:1542674, PMID:1928091, PMID:4624444, PMID:5041390, PMID:7627193, PMID:8127074, PMID:8128957, PMID:8834238, PMID:12566520, PMID:18060825, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr 2:88,097,740...88,112,868
Ensembl chr 2:88,097,720...88,113,029
JBrowse link
autosomal recessive osteopetrosis 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clcn7 chloride voltage-gated channel 7 ISO ClinVar Annotator: match by term: Osteopetrosis autosomal recessive 4
ClinVar Annotator: match by OMIM:611490
OMIM
ClinVar
PMID:1516225, PMID:11207362, PMID:11468688, PMID:11741829, PMID:17033731, PMID:23296056, PMID:25741868, PMID:199553639 NCBI chr10:14,492,844...14,518,167
Ensembl chr10:14,492,844...14,516,894
JBrowse link
autosomal recessive osteopetrosis 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ostm1 osteoclastogenesis associated transmembrane protein 1 ISO ClinVar Annotator: match by term: Osteopetrosis, autosomal recessive 5
ClinVar Annotator: match by OMIM:259720
OMIM
ClinVar
PMID:12627228, PMID:16813530, PMID:28492532, PMID:28612835 NCBI chr20:47,394,979...47,430,304
Ensembl chr20:47,395,014...47,430,284
JBrowse link
autosomal recessive osteopetrosis 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Plekhm1 pleckstrin homology and RUN domain containing M1 ISO ClinVar Annotator: match by OMIM:611497 OMIM
ClinVar
PMID:17404618 NCBI chr10:91,451,890...91,500,675
Ensembl chr10:91,451,865...91,500,661
JBrowse link
autosomal recessive osteopetrosis 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tnfrsf11a TNF receptor superfamily member 11A ISO ClinVar Annotator: match by term: Autosomal recessive osteopetrosis 7
ClinVar Annotator: match by term: Osteopetrosis autosomal recessive 7
ClinVar Annotator: match by OMIM:612301
OMIM
ClinVar
PMID:15231021, PMID:18606301, PMID:19940926, PMID:28492532 NCBI chr13:25,778,306...25,835,802
Ensembl chr13:25,778,317...25,835,957
JBrowse link
autosomal recessive osteopetrosis 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Snx10 sorting nexin 10 ISO ClinVar Annotator: match by term: Osteopetrosis, autosomal recessive 8
ClinVar Annotator: match by OMIM:615085
OMIM
ClinVar
PMID:22499339, PMID:23123320, PMID:25741868 NCBI chr 4:81,311,490...81,375,248
Ensembl chr 4:81,311,490...81,374,158
JBrowse link
bone resorption disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ahr aryl hydrocarbon receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:19934163 NCBI chr 6:54,963,990...55,001,806
Ensembl chr 6:54,963,990...55,001,464
JBrowse link
G Bmp7 bone morphogenetic protein 7 ISO CTD Direct Evidence: therapeutic CTD PMID:17513972 NCBI chr 3:170,879,972...170,955,820
Ensembl chr 3:170,879,973...170,955,399
JBrowse link
G Col2a1 collagen type II alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:27028940 NCBI chr 7:139,454,945...139,484,403
Ensembl chr 7:139,455,242...139,483,997
JBrowse link
G Cxcl2 C-X-C motif chemokine ligand 2 ISO CTD Direct Evidence: therapeutic CTD PMID:21507677 NCBI chr14:18,731,346...18,733,391
Ensembl chr14:18,731,378...18,733,391
JBrowse link
G Cyp19a1 cytochrome P450, family 19, subfamily a, polypeptide 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11985600 NCBI chr 8:58,744,849...58,772,408
Ensembl chr 8:58,744,849...58,772,408
JBrowse link
G Ghrl ghrelin and obestatin prepropeptide ISO CTD Direct Evidence: therapeutic CTD PMID:29477364 NCBI chr 4:145,674,157...145,678,066
Ensembl chr 4:145,674,157...145,678,066
JBrowse link
G Pth parathyroid hormone ISO CTD Direct Evidence: marker/mechanism CTD PMID:9881647 NCBI chr 1:178,215,829...178,218,761
Ensembl chr 1:178,215,829...178,218,761
JBrowse link
G Pthlh parathyroid hormone-like hormone ISO CTD Direct Evidence: marker/mechanism CTD PMID:16769263 NCBI chr 4:181,663,425...181,674,181 JBrowse link
G Tnfrsf11b TNF receptor superfamily member 11B ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:15845617, PMID:18496637, PMID:23333834 NCBI chr 7:93,798,580...93,826,586
Ensembl chr 7:93,798,545...93,826,665
JBrowse link
G Tnfsf11 TNF superfamily member 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26319416 NCBI chr15:60,482,527...60,512,704
Ensembl chr15:60,482,527...60,512,704
JBrowse link
BRAIN ABNORMALITIES, NEURODEGENERATION, AND DYSOSTEOSCLEROSIS term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Csf1r colony stimulating factor 1 receptor ISO ClinVar Annotator: match by term: BRAIN ABNORMALITIES, NEURODEGENERATION, AND DYSOSTEOSCLEROSIS ClinVar
OMIM
PMID:6595937, PMID:8981357, PMID:18794495, PMID:19487654, PMID:22098561, PMID:22197934, PMID:22843259, PMID:23408870, PMID:23411710, PMID:23649896, PMID:23816250, PMID:24145216, PMID:24336230, PMID:30982608, PMID:30982609 NCBI chr18:56,414,493...56,458,300
Ensembl chr18:56,414,488...56,458,300
JBrowse link
Buschke-Ollendorff syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eln elastin ISO RGD PMID:1629625 RGD:9585749 NCBI chr12:24,978,478...25,021,864
Ensembl chr12:24,978,483...25,021,863
JBrowse link
G Lemd3 LEM domain containing 3 no_association ISO ClinVar Annotator: match by term: Osteopoikilosis with melorheostosis
ClinVar Annotator: match by term: OSTEOPOIKILOSIS WITH OR WITHOUT MELORHEOSTOSIS
ClinVar Annotator: match by term: Dermatofibrosis lenticularis disseminata, isolated
DNA:nonsense mutation:cds:c.2203C>T(human)
DNA:transversion mutation:intron: c.1921+1G>T(human)
DNA:nonsense mutations:cds:c.2564G>A,c.1963C>T(human)
ClinVar Annotator: match by OMIM:166700
OMIM
ClinVar
PMID:9295073, PMID:12749062, PMID:15489854, PMID:16470551, PMID:17087626, PMID:19438932, PMID:25741868, PMID:28434888, PMID:28492532, PMID:20678097, PMID:21985280, PMID:20083694, PMID:19438932 RGD:11553844, RGD:11553843, RGD:11553842, RGD:11553840 NCBI chr 7:62,976,671...63,045,860
Ensembl chr 7:62,996,336...63,045,728
JBrowse link
Caffey disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G A4galt alpha 1,4-galactosyltransferase (P blood group) ISO ClinVar Annotator: match by term: Hyperostosis, Cortical, Congenital ClinVar PMID:20971946 NCBI chr 7:124,085,832...124,110,440
Ensembl chr 7:124,085,834...124,089,385
JBrowse link
G Col1a1 collagen type I alpha 1 chain ISO DNA:mutation:exon:3040C>T (human)
ClinVar Annotator: match by term: Caffey Disease
ClinVar Annotator: match by term: Infantile cortical hyperostosis
DNA:missense mutation:exon:c.3040C>T(p.R836C)(human)
ClinVar
OMIM
PMID:2037280, PMID:6876111, PMID:7691343, PMID:7695699, PMID:7942841, PMID:8079666, PMID:8218237, PMID:8408653, PMID:8613526, PMID:8669434, PMID:8808594, PMID:9016532, PMID:9067755, PMID:9295084, PMID:9443882, PMID:10073586, PMID:10739762, PMID:10931857, PMID:11090261, PMID:11317364, PMID:11432962, PMID:12590186, PMID:13431894, PMID:15024692, PMID:15024745, PMID:15741671, PMID:15864348, PMID:15931785, PMID:16786509, PMID:16879195, PMID:17078022, PMID:17309652, PMID:18028452, PMID:18272325, PMID:18412368, PMID:18553566, PMID:18670065, PMID:18704262, PMID:18996919, PMID:19344236, PMID:19358256, PMID:19550437, PMID:20087402, PMID:20696291, PMID:21249479, PMID:21344539, PMID:21567126, PMID:21667357, PMID:21801164, PMID:21884818, PMID:22174522, PMID:22570641, PMID:22589248, PMID:22753364, PMID:23047998, PMID:23522764, PMID:23735642, PMID:24147872, PMID:24389367, PMID:24390061, PMID:24668929, PMID:24715559, PMID:24891183, PMID:24964776, PMID:25086671, PMID:25146735, PMID:25525159, PMID:25741868, PMID:25944380, PMID:25963598, PMID:26177859, PMID:26188975, PMID:26235824, PMID:26467025, PMID:26633542, PMID:27060301, PMID:27132807, PMID:27509835, PMID:27510842, PMID:27748872, PMID:28378289, PMID:28492532, PMID:28668235, PMID:29543232, PMID:29946973, PMID:17309652, PMID:15864348 RGD:5688296, RGD:11667069 NCBI chr10:82,745,801...82,762,790
Ensembl chr10:82,745,801...82,762,789
JBrowse link
G Col1a2 collagen type I alpha 2 chain ISO ClinVar Annotator: match by term: Infantile cortical hyperostosis ClinVar PMID:25741868, PMID:28492532 NCBI chr 4:31,534,225...31,569,152
Ensembl chr 4:31,534,225...31,569,151
JBrowse link
Camurati-Engelmann disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lrp5 LDL receptor related protein 5 ISO ClinVar Annotator: match by term: Diaphyseal dysplasia ClinVar PMID:25741868 NCBI chr 1:218,816,833...218,920,147
Ensembl chr 1:218,816,841...218,920,094
JBrowse link
G Mitf melanocyte inducing transcription factor ISS OMIM:131300 | OMIM:606631 MouseDO NCBI chr 4:130,172,484...130,425,496
Ensembl chr 4:130,172,727...130,425,532
JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO ClinVar Annotator: match by term: Diaphyseal dysplasia
ClinVar Annotator: match by term: Camurati-Engelmann Disease
ClinVar Annotator: match by OMIM:131300
OMIM
ClinVar
PMID:10973241, PMID:11062463, PMID:11278244, PMID:12843182, PMID:15103729, PMID:16207846, PMID:17293864, PMID:18292811, PMID:18424453, PMID:25741868 NCBI chr 1:82,480,875...82,497,196
Ensembl chr 1:82,480,195...82,497,199
JBrowse link
Cerebellar Hypoplasia with Endosteal Sclerosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Polr3b RNA polymerase III subunit B ISO ClinVar Annotator: match by term: Cerebellar hypoplasia with endosteal sclerosis ClinVar PMID:22036172, PMID:23355746, PMID:25339210, PMID:25741868, PMID:26204956 NCBI chr 7:24,745,051...24,851,227
Ensembl chr 7:24,745,051...24,851,227
JBrowse link
chondrodysplasia Blomstrand type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pth1r parathyroid hormone 1 receptor ISO ClinVar Annotator: match by OMIM:215045
ClinVar Annotator: match by term: Chondrodysplasia Blomstrand type
ClinVar
OMIM
PMID:3975110, PMID:9268097, PMID:9649554, PMID:9745456, PMID:10523019, PMID:17164305, PMID:18559376, PMID:25741868, PMID:28492532 NCBI chr 8:118,984,531...119,012,803
Ensembl chr 8:118,988,053...119,012,671
JBrowse link
COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mitf melanocyte inducing transcription factor ISO ClinVar Annotator: match by term: Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness ClinVar
OMIM
PMID:27889061 NCBI chr 4:130,172,484...130,425,496
Ensembl chr 4:130,172,727...130,425,532
JBrowse link
craniometaphyseal dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ankh ANKH inorganic pyrophosphate transport regulator ISO
ISS
ClinVar Annotator: match by term: Craniometaphyseal dysplasia
OMIM:122860 | OMIM:123000 | OMIM:218300 | OMIM:218400 | OMIM:614099 | OMIM:614378
ClinVar
MouseDO
NCBI chr 2:80,131,563...80,256,948
Ensembl chr 2:80,131,563...80,256,954
JBrowse link
G Gja1 gap junction protein, alpha 1 ISS OMIM:122860 | OMIM:123000 | OMIM:218300 | OMIM:218400 | OMIM:614099 | OMIM:614378 MouseDO NCBI chr20:37,876,650...37,889,097
Ensembl chr20:37,876,650...37,889,089
JBrowse link
G Ift43 intraflagellar transport 43 ISS OMIM:122860 | OMIM:123000 | OMIM:218300 | OMIM:218400 | OMIM:614099 | OMIM:614378 MouseDO NCBI chr 6:109,939,323...110,016,646
Ensembl chr 6:109,939,345...110,016,644
JBrowse link
G Otulin OTU deubiquitinase with linear linkage specificity ISO ClinVar Annotator: match by term: Craniometaphyseal dysplasia ClinVar NCBI chr 2:80,267,724...80,293,204
Ensembl chr 2:80,269,587...80,293,181
JBrowse link
G Sost sclerostin ISS OMIM:122860 | OMIM:123000 | OMIM:218300 | OMIM:218400 | OMIM:614099 | OMIM:614378 MouseDO NCBI chr10:89,897,087...89,900,131
Ensembl chr10:89,897,087...89,900,131
JBrowse link
G Wdr19 WD repeat domain 19 ISS OMIM:122860 | OMIM:123000 | OMIM:218300 | OMIM:218400 | OMIM:614099 | OMIM:614378 MouseDO NCBI chr14:44,705,012...44,767,120
Ensembl chr14:44,705,012...44,767,120
JBrowse link
diffuse idiopathic skeletal hyperostosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc29a1 solute carrier family 29 member 1 ISS OMIM:106400 MouseDO NCBI chr 9:17,784,468...17,799,008
Ensembl chr 9:17,784,468...17,799,005
JBrowse link
Ectodermal Dysplasia and Immunodeficiency 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G G6pd glucose-6-phosphate dehydrogenase ISO ClinVar Annotator: match by term: HYPER-IgM IMMUNODEFICIENCY, X-LINKED, WITH HYPOHIDROTIC ECTODERMAL DYSPLASIA ClinVar PMID:25741868 NCBI chr  X:156,274,800...156,293,935
Ensembl chr  X:156,274,800...156,293,926
JBrowse link
G Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma ISO ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 1
ClinVar Annotator: match by term: HYPER-IgM IMMUNODEFICIENCY, X-LINKED, WITH HYPOHIDROTIC ECTODERMAL DYSPLASIA
ClinVar Annotator: match by term: Hypohidrotic ectodermal dysplasia with immune deficiency
DNA:mutation:splicing site:
ClinVar Annotator: match by OMIM:300291
ClinVar Annotator: match by synonym: EDA-ID
OMIM
ClinVar
PMID:117248, PMID:8169255, PMID:11047757, PMID:11179023, PMID:11224521, PMID:11242109, PMID:11484156, PMID:11590134, PMID:12045264, PMID:14726382, PMID:15100680, PMID:15833888, PMID:16228229, PMID:16333836, PMID:16379012, PMID:16532398, PMID:16818673, PMID:16950813, PMID:17072331, PMID:17910706, PMID:18851874, PMID:19903677, PMID:21622647, PMID:24682681, PMID:25741868, PMID:26117626, PMID:29077208, PMID:16333836 RGD:12791265 NCBI chr  X:156,254,187...156,280,046
Ensembl chr  X:156,257,173...156,270,748
JBrowse link
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cox4i2 cytochrome c oxidase subunit 4i2 ISO ClinVar Annotator: match by OMIM:612714
DNA:mutation:cds:c.412G>A (p.E138K)(human)
OMIM
ClinVar
PMID:19268275, PMID:19268275 RGD:11344905 NCBI chr 3:148,234,546...148,245,424
Ensembl chr 3:148,234,193...148,245,416
JBrowse link
exostosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gli2 GLI family zinc finger 2 ISO ClinVar Annotator: match by term: Exostoses ClinVar PMID:25741868 NCBI chr13:34,829,021...35,049,172
Ensembl chr13:34,829,139...35,048,444
JBrowse link
familial expansile osteolysis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tnfrsf11a TNF receptor superfamily member 11A ISO ClinVar Annotator: match by term: Familial expansile osteolysis
ClinVar Annotator: match by OMIM:174810
OMIM
ClinVar
PMID:7911698, PMID:10615125, PMID:12362049, PMID:12568416, PMID:17447113, PMID:25741868 NCBI chr13:25,778,306...25,835,802
Ensembl chr13:25,778,317...25,835,957
JBrowse link
Familial Hypophosphatemic Rickets term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clcn5 chloride voltage-gated channel 5 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr  X:16,170,585...16,196,691
Ensembl chr  X:16,050,780...16,196,789
JBrowse link
G Phex phosphate regulating endopeptidase homolog, X-linked ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Familial Hypophosphatemic Rickets
CTD
ClinVar
PMID:3414685, PMID:9097956, PMID:9199930, PMID:9430241, PMID:11414762, PMID:11468271, PMID:12727977, PMID:18625346, PMID:18775977, PMID:24684036, PMID:25741868, PMID:28492532, PMID:29858904 NCBI chr  X:40,460,047...40,717,982
Ensembl chr  X:40,460,047...40,717,982
JBrowse link
G Phyh phytanoyl-CoA 2-hydroxylase ISO ClinVar Annotator: match by term: RICKETS, HEREDITARY VITAMIN D-RESISTANT ClinVar PMID:10767344, PMID:14974078, PMID:16186124, PMID:25741868, PMID:27229527, PMID:28492532 NCBI chr17:77,287,580...77,304,482
Ensembl chr17:77,287,188...77,304,530
JBrowse link
G Vdr vitamin D receptor ISO ClinVar Annotator: match by term: RICKETS, HEREDITARY VITAMIN D-RESISTANT ClinVar PMID:1652893, PMID:2174914, PMID:2177843, PMID:2557627, PMID:2558018, PMID:2849209, PMID:3024987, PMID:8392085, PMID:8675579, PMID:8862631, PMID:8961271, PMID:9005998, PMID:9360557, PMID:9495519, PMID:10707958, PMID:11564167, PMID:17130574, PMID:17371163, PMID:17970811, PMID:18159135, PMID:18279374, PMID:18593774, PMID:19682379, PMID:20200114, PMID:21168462, PMID:21931507, PMID:22992668, PMID:23180655, PMID:24033266, PMID:24073221, PMID:25741868, PMID:26177022, PMID:26198224, PMID:26590811, PMID:26631034, PMID:26911666, PMID:27164139, PMID:27607899, PMID:27778467, PMID:28492532 NCBI chr 7:139,344,452...139,394,138
Ensembl chr 7:139,342,063...139,394,166
JBrowse link
Forney Robinson Pascoe Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Map3k7 mitogen activated protein kinase kinase kinase 7 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 5:47,183,142...47,244,424
Ensembl chr 5:47,186,558...47,244,416
JBrowse link
Hajdu-Cheney syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Notch2 notch receptor 2 ISO ClinVar Annotator: match by term: Hajdu-Cheney syndrome
ClinVar Annotator: match by OMIM:102500
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:8723560, PMID:8755249, PMID:17159511, PMID:21378985, PMID:21378989, PMID:21712856, PMID:22891273, PMID:22891276, PMID:24728327, PMID:25741868, PMID:27312922, PMID:28492532 NCBI chr 2:200,187,184...200,320,403
Ensembl chr 2:200,187,179...200,320,215
JBrowse link
hereditary hypophosphatemic rickets with hypercalciuria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pth parathyroid hormone ISO protein:decreased expression:plasma (mouse) RGD PMID:19570882 RGD:7242924 NCBI chr 1:178,215,829...178,218,761
Ensembl chr 1:178,215,829...178,218,761
JBrowse link
G Slc34a1 solute carrier family 34 member 1 ISO
ISS
OMIM:241530
DNA:deletions, snps:multiple (human)
MouseDO PMID:19570882, PMID:16358215 RGD:7242924, RGD:7242925 NCBI chr17:9,747,766...9,762,739
Ensembl chr17:9,747,752...9,762,813
JBrowse link
G Slc34a3 solute carrier family 34 member 3 ISO ClinVar Annotator: match by term: Hypophosphatemic rickets with hypercalciuria
ClinVar Annotator: match by term: HYPERCALCIURIC RICKETS
ClinVar Annotator: match by OMIM:241530
OMIM
ClinVar
PMID:2983203, PMID:16358214, PMID:16358215, PMID:16849419, PMID:18523928, PMID:18996815, PMID:19820004, PMID:20074341, PMID:21344632, PMID:22159077, PMID:24246249, PMID:25741868, PMID:26399350, PMID:26789268, PMID:28492532, PMID:29809158 NCBI chr 3:2,448,391...2,454,019
Ensembl chr 3:2,448,381...2,453,933
JBrowse link
hereditary multiple exostoses term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ext1 exostosin glycosyltransferase 1 ISO DNA:frameshift mutations, missense mutation:cds:multiple (human)
ClinVar Annotator: match by term: Multiple congenital exostosis
ClinVar Annotator: match by term: Multiple exostoses
ClinVar Annotator: match by term: MULTIPLE OSTEOCHONDROMAS
DNA:missense mutation:cds:p.Y271H (human)
DNA:frameshift mutation:cds:p.S442IfsX1 (human)
DNA:frameshift mutation:cds:p.K218fsX247 (human)
DNA:nonsense mutation:cds:p.Y634X (human)
DNA:missense mutation, frameshift mutation:cds:p.R340L, p.K177KfsX15 (human)
DNA:deletion:cds:p.V545_E574del (human)
ClinVar Annotator: match by term: Hereditary Multiple Osteochondromatosis
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:1816274, PMID:7550340, PMID:8981950, PMID:9150727, PMID:9326317, PMID:9463333, PMID:9521425, PMID:9620772, PMID:10639137, PMID:10679296, PMID:10679937, PMID:10713884, PMID:11169766, PMID:11170095, PMID:11342960, PMID:11391482, PMID:11432960, PMID:11668521, PMID:12032595, PMID:12239711, PMID:12490068, PMID:15221792, PMID:15253765, PMID:15586175, PMID:16088908, PMID:16283885, PMID:17041877, PMID:17301954, PMID:17589361, PMID:18165274, PMID:18330718, PMID:18373409, PMID:18976157, PMID:19344451, PMID:19810120, PMID:19839753, PMID:20025490, PMID:20080592, PMID:20418910, PMID:21039224, PMID:21280143, PMID:21499719, PMID:21520333, PMID:21703028, PMID:22258776, PMID:22382802, PMID:22913777, PMID:23262345, PMID:23439489, PMID:23629877, PMID:24120389, PMID:24496678, PMID:24532482, PMID:24728327, PMID:25230886, PMID:25468659, PMID:25541963, PMID:25741868, PMID:26239617, PMID:26515642, PMID:26622573, PMID:26690531, PMID:26961984, PMID:28492532, PMID:28690282, PMID:29126381, PMID:29529714, PMID:29620724, PMID:29989442, PMID:30311386, PMID:30334991, PMID:8981950, PMID:17767039, PMID:17767039, PMID:25421355, PMID:12490068, PMID:24297320, PMID:18330718, PMID:26839764 RGD:1598916, RGD:13208236, RGD:13208236, RGD:13208234, RGD:13208233, RGD:13208229, RGD:13208228, RGD:13208227 NCBI chr 7:92,605,008...92,881,392
Ensembl chr 7:92,605,728...92,882,068
JBrowse link
G Ext2 exostosin glycosyltransferase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23439489 NCBI chr 3:82,602,784...82,734,557
Ensembl chr 3:82,602,785...82,734,533
JBrowse link
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21533187 NCBI chr12:40,895,515...40,955,999
Ensembl chr12:40,895,515...40,955,999
JBrowse link
hyperostosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pth parathyroid hormone ISO CTD Direct Evidence: marker/mechanism CTD PMID:25289773 NCBI chr 1:178,215,829...178,218,761
Ensembl chr 1:178,215,829...178,218,761
JBrowse link
Hyperostosis Cranialis Interna term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc39a14 solute carrier family 39 member 14 ISO ClinVar Annotator: match by term: Hyperostosis cranialis interna ClinVar
OMIM
PMID:2300107, PMID:29621230 NCBI chr15:51,982,872...52,029,841
Ensembl chr15:51,982,982...52,029,816
JBrowse link
hypophosphatemic nephrolithiasis/osteoporosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G F12 coagulation factor XII ISO ClinVar Annotator: match by term: Hypophosphatemic Nephrolithiasis/Osteoporosis ClinVar PMID:8528215, PMID:9354665, PMID:21920016, PMID:23348723, PMID:24029428, PMID:24033266, PMID:25524745, PMID:25741868, PMID:28492532 NCBI chr17:9,736,577...9,744,420
Ensembl chr17:9,736,577...9,744,420
JBrowse link
G Slc34a1 solute carrier family 34 member 1 ISO ClinVar Annotator: match by term: Hypophosphatemic Nephrolithiasis/Osteoporosis ClinVar PMID:8528215, PMID:9354665, PMID:21920016, PMID:23348723, PMID:24029428, PMID:24033266, PMID:25524745, PMID:25741868, PMID:28492532 NCBI chr17:9,747,766...9,762,739
Ensembl chr17:9,747,752...9,762,813
JBrowse link
hypophosphatemic nephrolithiasis/osteoporosis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G F12 coagulation factor XII ISO ClinVar Annotator: match by term: Nephrolithiasis/osteoporosis, hypophosphatemic, 1 ClinVar PMID:28492532 NCBI chr17:9,736,577...9,744,420
Ensembl chr17:9,736,577...9,744,420
JBrowse link
G Slc34a1 solute carrier family 34 member 1 ISO ClinVar Annotator: match by term: Nephrolithiasis/osteoporosis, hypophosphatemic, 1
ClinVar Annotator: match by OMIM:612286
OMIM
ClinVar
PMID:12324554, PMID:16688119, PMID:24033266, PMID:25082825, PMID:25741868, PMID:26047794, PMID:26272126, PMID:27378183, PMID:28492532, PMID:28893421 NCBI chr17:9,747,766...9,762,739
Ensembl chr17:9,747,752...9,762,813
JBrowse link
hypophosphatemic nephrolithiasis/osteoporosis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc9a3r1 SLC9A3 regulator 1 ISO ClinVar Annotator: match by term: Nephrolithiasis/osteoporosis, hypophosphatemic, 2
ClinVar Annotator: match by OMIM:612287
OMIM
ClinVar
PMID:18784102, PMID:24033266, PMID:25326635, PMID:25741868, PMID:28492532, PMID:28893421 NCBI chr10:103,713,045...103,730,145
Ensembl chr10:103,713,045...103,730,145
JBrowse link
Hypophosphatemic Rickets term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dmp1 dentin matrix acidic phosphoprotein 1 ISO ClinVar Annotator: match by term: Hypophosphatemic rickets ClinVar PMID:24033266 NCBI chr14:6,889,851...6,923,961
Ensembl chr14:6,889,856...6,900,733
JBrowse link
G Fam20c FAM20C, golgi associated secretory pathway kinase ISO RGD PMID:22615579 RGD:11558021 NCBI chr12:17,913,771...17,972,733
Ensembl chr12:17,913,767...17,972,737
JBrowse link
G Fgf23 fibroblast growth factor 23 ISO RGD PMID:14988389 RGD:10044208 NCBI chr 4:159,622,404...159,630,082
Ensembl chr 4:159,622,404...159,630,082
JBrowse link
G Phex phosphate regulating endopeptidase homolog, X-linked ISO ClinVar Annotator: match by term: HYPOPHOSPHATEMIC VITAMIN D-RESISTANT RICKETS ClinVar PMID:25741868 NCBI chr  X:40,460,047...40,717,982
Ensembl chr  X:40,460,047...40,717,982
JBrowse link
G Phyh phytanoyl-CoA 2-hydroxylase ISO ClinVar Annotator: match by term: HYPOCALCEMIC VITAMIN D-RESISTANT RICKETS ClinVar PMID:10767344, PMID:14974078, PMID:16186124, PMID:25741868, PMID:27229527, PMID:28492532 NCBI chr17:77,287,580...77,304,482
Ensembl chr17:77,287,188...77,304,530
JBrowse link
G Vdr vitamin D receptor ISO ClinVar Annotator: match by term: HYPOCALCEMIC VITAMIN D-RESISTANT RICKETS ClinVar PMID:1652893, PMID:2174914, PMID:2177843, PMID:2557627, PMID:2558018, PMID:2849209, PMID:3024987, PMID:8392085, PMID:8675579, PMID:8862631, PMID:8961271, PMID:9005998, PMID:9360557, PMID:9495519, PMID:10707958, PMID:11564167, PMID:17130574, PMID:17371163, PMID:17970811, PMID:18159135, PMID:18279374, PMID:18593774, PMID:19682379, PMID:20200114, PMID:21168462, PMID:21931507, PMID:22992668, PMID:23180655, PMID:24033266, PMID:24073221, PMID:25741868, PMID:26177022, PMID:26198224, PMID:26590811, PMID:26631034, PMID:26911666, PMID:27164139, PMID:27607899, PMID:27778467, PMID:28492532 NCBI chr 7:139,344,452...139,394,138
Ensembl chr 7:139,342,063...139,394,166
JBrowse link
Hypophosphatemic Rickets, Autosomal Recessive, 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dmp1 dentin matrix acidic phosphoprotein 1 ISO ClinVar Annotator: match by term: HYPOPHOSPHATEMIA, AUTOSOMAL RECESSIVE
ClinVar Annotator: match by OMIM:241520
OMIM
ClinVar
PMID:17033621, PMID:17033625, PMID:21050253, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr14:6,889,851...6,923,961
Ensembl chr14:6,889,856...6,900,733
JBrowse link
Hypophosphatemic Rickets, Autosomal Recessive, 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 ISO ClinVar Annotator: match by term: Hypophosphatemic rickets, autosomal recessive, 2
ClinVar Annotator: match by OMIM:613312
DNA:missense mutation:cds:p.Y901S (human)
ClinVar
OMIM
PMID:8960499, PMID:10480624, PMID:11739459, PMID:12881724, PMID:14671192, PMID:14988267, PMID:15001634, PMID:15126519, PMID:15605415, PMID:15677494, PMID:16025115, PMID:16315058, PMID:16607460, PMID:16968801, PMID:19229237, PMID:20016754, PMID:20137772, PMID:20137773, PMID:24033266, PMID:25741868, PMID:27467858, PMID:28492532, PMID:20137773, PMID:20137772 RGD:6906930, RGD:6906931 NCBI chr 1:21,748,201...21,813,205
Ensembl chr 1:21,748,261...21,813,371
JBrowse link
idiopathic juvenile osteoporosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lrp5 LDL receptor related protein 5 ISO DNA:mutations:exon:c.3446 T > A (p.L1149Q),c.3553 G > A (p.G1185R)(human) RGD PMID:22487062 RGD:12793058 NCBI chr 1:218,816,833...218,920,147
Ensembl chr 1:218,816,841...218,920,094
JBrowse link
inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Vcp valosin-containing protein ISO ClinVar Annotator: match by term: Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1 OMIM
ClinVar
PMID:7182974, PMID:15034582, PMID:16247064, PMID:16321991, PMID:16790606, PMID:16984901, PMID:17329348, PMID:17763460, PMID:17889967, PMID:18341608, PMID:19225410, PMID:19237541, PMID:19364651, PMID:19704082, PMID:20008565, PMID:20104022, PMID:20512113, PMID:20604808, PMID:21145000, PMID:21249466, PMID:21320982, PMID:21387114, PMID:21816654, PMID:21822278, PMID:21920633, PMID:21984748, PMID:22078486, PMID:22137929, PMID:22270372, PMID:22572540, PMID:22686199, PMID:22898872, PMID:22900631, PMID:22909335, PMID:23029473, PMID:23056506, PMID:23152587, PMID:23169451, PMID:23333620, PMID:23498975, PMID:24123792, PMID:24196964, PMID:24829604, PMID:25125609, PMID:25326637, PMID:25388089, PMID:25492614, PMID:25617006, PMID:25741868, PMID:25775548, PMID:26105173, PMID:26467025, PMID:26555887, PMID:26627873, PMID:27165006, PMID:27226613, PMID:27768726, PMID:28130640, PMID:28360103, PMID:28492532, PMID:28692196 NCBI chr 5:58,426,548...58,445,953
Ensembl chr 5:58,426,549...58,445,953
JBrowse link
inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hnrnpa2b1 heterogeneous nuclear ribonucleoprotein A2/B1 ISO ClinVar Annotator: match by term: Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 2 ClinVar
OMIM
PMID:11891683, PMID:23455423, PMID:25741868, PMID:28492532 NCBI chr 4:81,237,496...81,241,281
Ensembl chr 4:81,237,496...81,241,282
JBrowse link
inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hnrnpa1 heterogeneous nuclear ribonucleoprotein A1 ISO ClinVar Annotator: match by term: Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 3
ClinVar Annotator: match by OMIM:615424
OMIM
ClinVar
PMID:20116073, PMID:23455423, PMID:25616961, PMID:25741868 NCBI chr 7:144,865,302...144,871,592
Ensembl chr 7:144,865,608...144,871,585
JBrowse link
inclusion body myopathy with Paget disease of bone and frontotemporal dementia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Egf epidermal growth factor ISO protein:increased expression:plasma RGD PMID:24119107 RGD:10059681 NCBI chr 2:68,820,616...68,895,537 JBrowse link
G Hnrnpa1 heterogeneous nuclear ribonucleoprotein A1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 7:144,865,302...144,871,592
Ensembl chr 7:144,865,608...144,871,585
JBrowse link
G Hnrnpa2b1 heterogeneous nuclear ribonucleoprotein A2/B1 ISO DNA:missense mutation:cds:p.D290V (human)
CTD Direct Evidence: marker/mechanism
CTD PMID:23455423 RGD:10395280 NCBI chr 4:81,237,496...81,241,281
Ensembl chr 4:81,237,496...81,241,282
JBrowse link
G Tnf tumor necrosis factor ISO protein:increased expression:plasma RGD PMID:24119107 RGD:10059681 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
G Vcp valosin-containing protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:25884947 NCBI chr 5:58,426,548...58,445,953
Ensembl chr 5:58,426,549...58,445,953
JBrowse link
Kenny-Caffey syndrome type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tbce tubulin folding cofactor E ISO ClinVar Annotator: match by term: Kenny-Caffey syndrome type 1 OMIM
ClinVar
PMID:12389028, PMID:25097779, PMID:25741868, PMID:26336027 NCBI chr17:53,983,126...54,029,028
Ensembl chr17:53,983,182...54,029,027
JBrowse link
Kenny-Caffey syndrome type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fam111a FAM111 trypsin like peptidase A ISO ClinVar Annotator: match by term: Kenny-Caffey syndrome type 2
ClinVar Annotator: match by OMIM:127000
OMIM
ClinVar
PMID:23684011, PMID:23996431, PMID:24635597, PMID:24970356, PMID:32996714 NCBI chr 1:229,003,778...229,019,532
Ensembl chr 1:229,003,961...229,019,527
JBrowse link
G Tbce tubulin folding cofactor E ISO CTD Direct Evidence: marker/mechanism CTD PMID:12389028 NCBI chr17:53,983,126...54,029,028
Ensembl chr17:53,983,182...54,029,027
JBrowse link
Keratosis Palmoplantaris with Periodontopathia and Onychogryposis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctsc cathepsin C ISO ClinVar Annotator: match by term: Haim-Munk syndrome
ClinVar Annotator: match by OMIM:245010
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:1886537, PMID:10581027, PMID:10593994, PMID:10662807, PMID:11180012, PMID:11180601, PMID:11886537, PMID:12112662, PMID:14974080, PMID:18809751, PMID:18945301, PMID:23311634, PMID:24033266, PMID:24936511, PMID:25741868, PMID:28242153, PMID:28492532, PMID:29410039 NCBI chr 1:151,918,514...151,949,979
Ensembl chr 1:151,918,571...151,949,983
JBrowse link
Kniest Like Dysplasia Lethal term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hspg2 heparan sulfate proteoglycan 2 ISO ClinVar Annotator: match by term: Lethal Kniest-like syndrome ClinVar PMID:11279527, PMID:24088041, PMID:24781210, PMID:25504735, PMID:25741868, PMID:25803036, PMID:26467025, PMID:26508570, PMID:26633545, PMID:28242392, PMID:28492532, PMID:29271572, PMID:29901129, PMID:30311386 NCBI chr 5:155,812,096...155,913,751 JBrowse link
G Ldlrad2 low density lipoprotein receptor class A domain containing 2 ISO ClinVar Annotator: match by term: Lethal Kniest-like syndrome ClinVar PMID:25504735, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr 5:155,914,517...155,922,269
Ensembl chr 5:155,914,735...155,916,893
JBrowse link
Mandibuloacral Dysplasia with Type A Lipodystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lmna lamin A/C ISO ClinVar Annotator: match by term: Lipodystrophy, type A, associated with mandibuloacral dysplasia
ClinVar Annotator: match by term: Mandibuloacral dysplasia with type A lipodystrophy
ClinVar Annotator: match by term: Mandibuloacral dysplasia with type A lipodystrophy, atypical
ClinVar Annotator: match by term: Mandibuloacral dysostosis
ClinVar Annotator: match by term: CRANIOMANDIBULAR DERMATODYSOSTOSIS
DNA:missense mutation:cds:p.R527H (human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:248370
OMIM
ClinVar
CTD
PMID:10080180, PMID:10612827, PMID:10655060, PMID:10999845, PMID:11503164, PMID:12075506, PMID:12628721, PMID:12629077, PMID:12768443, PMID:12784312, PMID:12788894, PMID:12920062, PMID:12927431, PMID:14597414, PMID:14615128, PMID:14627682, PMID:14749366, PMID:15140538, PMID:15205219, PMID:15286156, PMID:15475483, PMID:15998779, PMID:16174718, PMID:16278265, PMID:16440304, PMID:16772334, PMID:16809772, PMID:17250669, PMID:17274801, PMID:17377071, PMID:17848409, PMID:17935239, PMID:18348272, PMID:18396274, PMID:18414213, PMID:18549403, PMID:18604166, PMID:18795223, PMID:18796515, PMID:18926329, PMID:19084400, PMID:19318026, PMID:19424285, PMID:19427440, PMID:19432833, PMID:19589617, PMID:19638735, PMID:19680556, PMID:19764019, PMID:19875404, PMID:20848652, PMID:20980393, PMID:21520333, PMID:22224630, PMID:22266370, PMID:22326558, PMID:22464770, PMID:22918509, PMID:23183350, PMID:23328570, PMID:23497705, PMID:23853504, PMID:23861362, PMID:24001739, PMID:24033266, PMID:24055113, PMID:24503780, PMID:24623722, PMID:24642510, PMID:24721642, PMID:24768879, PMID:24846508, PMID:25214167, PMID:25286833, PMID:25324471, PMID:25637381, PMID:25741868, PMID:25823658, PMID:25982065, PMID:26183555, PMID:26332594, PMID:26467025, PMID:26602028, PMID:26752647, PMID:27199538, PMID:27532257, PMID:27585670, PMID:27723096, PMID:27813223, PMID:27854218, PMID:27896052, PMID:27919367, PMID:28074886, PMID:28255936, PMID:28341588, PMID:28416588, PMID:28492532, PMID:28531892, PMID:28663758, PMID:28679633, PMID:28785654, PMID:28874324, PMID:29040816, PMID:29149195, PMID:29237675, PMID:29693488, PMID:29791652, PMID:29943882, PMID:30137533, PMID:30165862, PMID:30311386, PMID:30420677, PMID:30901896, PMID:16046620 RGD:12791023 NCBI chr 2:187,842,884...187,863,552
Ensembl chr 2:187,842,885...187,863,516
JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18554282 NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
JBrowse link
G Zmpste24 zinc metallopeptidase STE24 ISO ClinVar Annotator: match by term: Mandibuloacral dysostosis ClinVar NCBI chr 5:139,982,404...140,015,541
Ensembl chr 5:139,983,680...140,015,541
JBrowse link
melorheostosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Map2k1 mitogen activated protein kinase kinase 1 ISO OMIM NCBI chr 8:69,134,218...69,722,573
Ensembl chr 8:69,134,223...69,164,758
JBrowse link
Melorheostosis with Osteopoikilosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lemd3 LEM domain containing 3 ISO ClinVar Annotator: match by term: Osteopoikilosis with melorheostosis ClinVar PMID:9295073, PMID:12749062, PMID:15489854, PMID:17087626, PMID:19438932 NCBI chr 7:62,976,671...63,045,860
Ensembl chr 7:62,996,336...63,045,728
JBrowse link
metachondromatosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 ISO ClinVar Annotator: match by term: Metachondromatosis
ClinVar Annotator: match by OMIM:156250
OMIM
ClinVar
PMID:1258892, PMID:1543375, PMID:4025385, PMID:4386970, PMID:8530013, PMID:9222968, PMID:11704759, PMID:11992261, PMID:12058348, PMID:12161469, PMID:12161596, PMID:12634870, PMID:12717436, PMID:12960218, PMID:14634749, PMID:14644997, PMID:14961557, PMID:14974085, PMID:15001945, PMID:15009076, PMID:15121796, PMID:15240615, PMID:15248152, PMID:15389709, PMID:15520399, PMID:15539800, PMID:15712196, PMID:15723289, PMID:15761018, PMID:15834506, PMID:15928039, PMID:15929108, PMID:15948193, PMID:15956085, PMID:15985475, PMID:15987685, PMID:15996221, PMID:16053901, PMID:16124853, PMID:16263833, PMID:16338218, PMID:16358218, PMID:16377799, PMID:16399795, PMID:16498234, PMID:16523510, PMID:16638574, PMID:16679933, PMID:16804314, PMID:17020470, PMID:17056636, PMID:17143285, PMID:17222357, PMID:17339163, PMID:17361219, PMID:17497712, PMID:17515436, PMID:17546245, PMID:17661820, PMID:17935252, PMID:18253957, PMID:18331608, PMID:18372317, PMID:18373317, PMID:18470943, PMID:18678287, PMID:18758896, PMID:18759865, PMID:18849586, PMID:18854871, PMID:19020799, PMID:19054014, PMID:19077116, PMID:19133693, PMID:19174044, PMID:19206169, PMID:19352411, PMID:19449407, PMID:19467855, PMID:19509418, PMID:19725129, PMID:19737548, PMID:19768645, PMID:19825837, PMID:19864201, PMID:20186801, PMID:20308328, PMID:20493809, PMID:20535210, PMID:20577567, PMID:20718194, PMID:20883402, PMID:20979190, PMID:21321969, PMID:21339643, PMID:21340158, PMID:21365175, PMID:21365683, PMID:21396583, PMID:21407260, PMID:21500339, PMID:21533187, PMID:21567923, PMID:21590266, PMID:21747628, PMID:21910245, PMID:21934682, PMID:22190897, PMID:22315187, PMID:22411627, PMID:22465605, PMID:22555271, PMID:22585553, PMID:22681964, PMID:22781091, PMID:22822385, PMID:22923420, PMID:23312806, PMID:23317994, PMID:23334668, PMID:23457302, PMID:23513489, PMID:23584145, PMID:23673659, PMID:23726368, PMID:23756559, PMID:23771920, PMID:23813970, PMID:24033266, PMID:24037001, PMID:24183200, PMID:24401936, PMID:24451042, PMID:24628801, PMID:24728327, PMID:24754368, PMID:24767283, PMID:24775816, PMID:24803665, PMID:24820750, PMID:24935154, PMID:25231023, PMID:25326637, PMID:25337068, PMID:25500235, PMID:25544017, PMID:25595571, PMID:25612910, PMID:25731833, PMID:25741868, PMID:25741869, PMID:25862627, PMID:25884655, PMID:25912702, PMID:25917897, PMID:26206283, PMID:26249544, PMID:26297936, PMID:26337637, PMID:26467025, PMID:26785492, PMID:26817465, PMID:26822237, PMID:26918529, PMID:27153395, PMID:27238887, PMID:27353043, PMID:27484170, PMID:27521173, PMID:27619028, PMID:27626068, PMID:27659786, PMID:28051113, PMID:28074573, PMID:28483241, PMID:28492532, PMID:28628100, PMID:28650561, PMID:28681392, PMID:28957739, PMID:29276006, PMID:29493581, PMID:30311386, PMID:32581362, PMID:32860008, PMID:32963807 NCBI chr12:40,895,515...40,955,999
Ensembl chr12:40,895,515...40,955,999
JBrowse link
G Rpl6 ribosomal protein L6 ISO ClinVar Annotator: match by term: Metachondromatosis ClinVar NCBI chr12:40,877,578...40,882,032
Ensembl chr12:40,877,613...40,881,124
JBrowse link
multicentric carpotarsal osteolysis syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mafb MAF bZIP transcription factor B ISO ClinVar Annotator: match by term: Multicentric carpo-tarsal osteolysis with or without nephropathy
ClinVar Annotator: match by term: Multicentric osteolysis nephropathy
ClinVar Annotator: match by OMIM:166300
OMIM
ClinVar
PMID:20436469, PMID:22387013, PMID:24989131, PMID:25741868, PMID:28492532 NCBI chr 3:156,338,993...156,340,913
Ensembl chr 3:156,339,004...156,340,913
JBrowse link
Multiple Exostoses Type I term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ext1 exostosin glycosyltransferase 1 ISO ClinVar Annotator: match by term: EXOSTOSES, MULTIPLE, TYPE I OMIM
ClinVar
PMID:7550340, PMID:8981950, PMID:9326317, PMID:9521425, PMID:9620772, PMID:10639137, PMID:10679296, PMID:10679937, PMID:10713884, PMID:11391482, PMID:11432960, PMID:15253765, PMID:16283885, PMID:17041877, PMID:18165274, PMID:18330718, PMID:19810120, PMID:20418910, PMID:22258776, PMID:23439489, PMID:25230886, PMID:25741868, PMID:26239617, PMID:26515642, PMID:26961984, PMID:28492532, PMID:29126381 NCBI chr 7:92,605,008...92,881,392
Ensembl chr 7:92,605,728...92,882,068
JBrowse link
Multiple Exostoses Type II term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ext2 exostosin glycosyltransferase 2 ISO ClinVar Annotator: match by term: Multiple exostoses type 2
ClinVar Annotator: match by term: EXOSTOSES, MULTIPLE, TYPE II
ClinVar Annotator: match by OMIM:133701
OMIM
ClinVar
PMID:8894688, PMID:9326317, PMID:9463333, PMID:10480354, PMID:10671060, PMID:10679937, PMID:10713884, PMID:10750558, PMID:11169766, PMID:11170095, PMID:11432960, PMID:11668521, PMID:12239711, PMID:12490068, PMID:15221792, PMID:15586175, PMID:15796962, PMID:16088908, PMID:16283885, PMID:17041877, PMID:17301954, PMID:17589361, PMID:18165274, PMID:18373409, PMID:18666861, PMID:18976157, PMID:19309273, PMID:19344451, PMID:19504431, PMID:19810120, PMID:19839753, PMID:20425833, PMID:21520333, PMID:22382802, PMID:22820392, PMID:23262345, PMID:23439489, PMID:23629877, PMID:24496678, PMID:24532482, PMID:24728327, PMID:24728384, PMID:25230886, PMID:25449079, PMID:25468659, PMID:25591329, PMID:25741868, PMID:25744876, PMID:26246518, PMID:26961984, PMID:28492532, PMID:28690282, PMID:28849184, PMID:29126381, PMID:29529714, PMID:30075207, PMID:30288735, PMID:30334991, PMID:30997052 NCBI chr 3:82,602,784...82,734,557
Ensembl chr 3:82,602,785...82,734,533
JBrowse link
Nestor-Guillermo Progeria Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Banf1 BAF nuclear assembly factor 1 ISO ClinVar Annotator: match by term: Nestor-Guillermo progeria syndrome
ClinVar Annotator: match by OMIM:614008
OMIM
ClinVar
PMID:21549337, PMID:23720404, PMID:28492532 NCBI chr 1:220,744,195...220,746,224
Ensembl chr 1:220,744,195...220,746,224
JBrowse link
G Eif1ad eukaryotic translation initiation factor 1A domain containing ISO ClinVar Annotator: match by term: Nestor-Guillermo progeria syndrome ClinVar NCBI chr 1:220,746,387...220,751,687
Ensembl chr 1:220,746,387...220,751,684
JBrowse link
Osteolysis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Antxr2 ANTXR cell adhesion molecule 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12973667 NCBI chr14:13,191,716...13,331,286
Ensembl chr14:13,192,347...13,274,978
JBrowse link
G Ibsp integrin-binding sialoprotein ISO CTD Direct Evidence: marker/mechanism CTD PMID:22407340 NCBI chr14:6,801,200...6,813,987
Ensembl chr14:6,801,204...6,813,945
JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO OMIM:277950, Winchester syndrome RGD PMID:16542393 RGD:1601416 NCBI chr19:15,542,771...15,570,589
Ensembl chr19:15,542,765...15,570,611
JBrowse link
G Mmp7 matrix metallopeptidase 7 ISO associated with Prostatic Neoplasms RGD PMID:15894268 RGD:9685352 NCBI chr 8:5,893,253...5,900,965
Ensembl chr 8:5,893,249...5,901,049
JBrowse link
G Pthlh parathyroid hormone-like hormone ISO CTD Direct Evidence: marker/mechanism CTD PMID:11054717 NCBI chr 4:181,663,425...181,674,181 JBrowse link
G Spp1 secreted phosphoprotein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22407340 NCBI chr14:6,673,686...6,679,965
Ensembl chr14:6,673,686...6,679,901
JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:15878362 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
G Tnfrsf11b TNF receptor superfamily member 11B ISO CTD Direct Evidence: therapeutic CTD PMID:12548581 NCBI chr 7:93,798,580...93,826,586
Ensembl chr 7:93,798,545...93,826,665
JBrowse link
G Tnfsf11 TNF superfamily member 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18606716 NCBI chr15:60,482,527...60,512,704
Ensembl chr15:60,482,527...60,512,704
JBrowse link
Osteolysis Hereditary Multicentric term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lpcat2 lysophosphatidylcholine acyltransferase 2 ISO ClinVar Annotator: match by term: Multicentric osteolysis, nodulosis and arthropathy ClinVar NCBI chr19:15,470,177...15,540,704
Ensembl chr19:15,469,303...15,540,773
JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO ClinVar Annotator: match by term: Multicentric osteolysis, nodulosis and arthropathy
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Multicentric Osteolysis-Nodulosis-Arthropathy (MONA) Spectrum Disorders
ClinVar Annotator: match by OMIM:259600
OMIM
ClinVar
CTD
PMID:2625626, PMID:6525336, PMID:10356396, PMID:11431697, PMID:15691365, PMID:16458924, PMID:16542393, PMID:17059372, PMID:17400654, PMID:19019335, PMID:20617897, PMID:20673868, PMID:21421877, PMID:23313298, PMID:23378725, PMID:25600631, PMID:25704319, PMID:25741868, PMID:27182040, PMID:28492532 NCBI chr19:15,542,771...15,570,589
Ensembl chr19:15,542,765...15,570,611
JBrowse link
osteomalacia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fbn1 fibrillin 1 ISO protein:increased expression:cortical bone, trabecular bone (mouse) RGD PMID:11159866 RGD:7794797 NCBI chr 3:117,569,708...117,766,160
Ensembl chr 3:117,569,697...117,766,120
JBrowse link
G Mepe matrix extracellular phosphoglycoprotein ISO CTD Direct Evidence: marker/mechanism CTD PMID:11414762 NCBI chr14:6,782,011...6,793,561
Ensembl chr14:6,782,012...6,793,558
JBrowse link
osteopathia striata with cranial sclerosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Amer1 APC membrane recruitment protein 1 ISO ClinVar Annotator: match by term: Osteopathia striata with cranial sclerosis
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:300373
OMIM
ClinVar
CTD
PMID:7004677, PMID:8723089, PMID:9327263, PMID:9383023, PMID:19079258, PMID:20209645, PMID:20679664, PMID:20950377, PMID:22043478, PMID:22716240, PMID:24033266, PMID:24728327, PMID:25741868, PMID:27369646, PMID:28492532, PMID:28497491 NCBI chr  X:64,686,620...64,702,504
Ensembl chr  X:64,686,623...64,702,441
JBrowse link
osteopetrosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Car2 carbonic anhydrase 2 susceptibility ISO DNA:splice-site mutation RGD PMID:1301935 RGD:1600698 NCBI chr 2:88,097,740...88,112,868
Ensembl chr 2:88,097,720...88,113,029
JBrowse link
G Cebpa CCAAT/enhancer binding protein alpha ISO RGD PMID:23580622 RGD:10401187 NCBI chr 1:91,363,492...91,366,164
Ensembl chr 1:91,363,492...91,366,164
JBrowse link
G Clcn7 chloride voltage-gated channel 7 ISO ClinVar Annotator: match by term: Osteopetrosis
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:25741868, PMID:28492532, PMID:11207362 RGD:737783 NCBI chr10:14,492,844...14,518,167
Ensembl chr10:14,492,844...14,516,894
JBrowse link
G Csf1 colony stimulating factor 1 IAGP
ISS
DNA:insertion:cds (rat) MouseDO PMID:12379742 RGD:628338 NCBI chr 2:210,522,370...210,550,546
Ensembl chr 2:210,522,375...210,550,560
JBrowse link
G Csf1tl colony stimulating factor 1; tooth less mutant IAGP RGD PMID:12379742 RGD:628338
G Ctsk cathepsin K ISO RGD PMID:10469835 RGD:734856 NCBI chr 2:196,655,469...196,666,447
Ensembl chr 2:196,655,469...196,666,446
JBrowse link
G Fermt3 fermitin family member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18278053 NCBI chr 1:222,254,183...222,272,775
Ensembl chr 1:222,254,184...222,272,285
JBrowse link
G Fosl1 FOS like 1, AP-1 transcription factor subunit ISO RGD PMID:10655067 RGD:737712 NCBI chr 1:220,826,560...220,835,066
Ensembl chr 1:220,826,560...220,835,066
JBrowse link
G Ghr growth hormone receptor IEP protein:decreased expression:osteoclast RGD PMID:14632687 RGD:2307374 NCBI chr 2:53,149,225...53,413,954
Ensembl chr 2:53,150,370...53,413,638
JBrowse link
G Jun Jun proto-oncogene, AP-1 transcription factor subunit ISO RGD PMID:15314684 RGD:1549450 NCBI chr 5:114,011,184...114,014,277
Ensembl chr 5:114,011,189...114,014,277
JBrowse link
G Lrp5 LDL receptor related protein 5 ISO ClinVar Annotator: match by term: High bone mass ClinVar PMID:11741193, PMID:12015390 NCBI chr 1:218,816,833...218,920,147
Ensembl chr 1:218,816,841...218,920,094
JBrowse link
G Lrrk1 leucine-rich repeat kinase 1 ISS MouseDO NCBI chr 1:127,166,866...127,301,053
Ensembl chr 1:127,166,431...127,292,090
JBrowse link
G Mitf melanocyte inducing transcription factor ISS MouseDO NCBI chr 4:130,172,484...130,425,496
Ensembl chr 4:130,172,727...130,425,532
JBrowse link
G Ndufs8 NADH:ubiquinone oxidoreductase core subunit S8 ISO ClinVar Annotator: match by term: Osteopetrosis ClinVar NCBI chr 1:219,141,289...219,144,610
Ensembl chr 1:219,141,292...219,144,610
JBrowse link
G Ostm1 osteoclastogenesis associated transmembrane protein 1 ISO ClinVar Annotator: match by term: Osteopetrosis ClinVar NCBI chr20:47,394,979...47,430,304
Ensembl chr20:47,395,014...47,430,284
JBrowse link
G Tcirg1 T-cell immune regulator 1, ATPase H+ transporting V0 subunit A3 ISO ClinVar Annotator: match by term: Osteopetrosis ClinVar PMID:10888887, PMID:10942435, PMID:11532986, PMID:15300850, PMID:19448635, PMID:23721911, PMID:24033266, PMID:24535484, PMID:25326635, PMID:25741868, PMID:28492532, PMID:30431110, PMID:30898715, PMID:31567691, PMID:31949762 NCBI chr 1:219,126,687...219,139,466
Ensembl chr 1:219,127,602...219,139,464
JBrowse link
G Tnfrsf11a TNF receptor superfamily member 11A ISO ClinVar Annotator: match by term: Osteopetrosis ClinVar PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr13:25,778,306...25,835,802
Ensembl chr13:25,778,317...25,835,957
JBrowse link
G Tnfsf11 TNF superfamily member 11 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Osteopetrosis
CTD
ClinVar
PMID:17632511 NCBI chr15:60,482,527...60,512,704
Ensembl chr15:60,482,527...60,512,704
JBrowse link
Osteophytes term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gh1 growth hormone 1 IEP associated with Acromegaly RGD PMID:10499542 RGD:10003127 NCBI chr10:94,486,204...94,488,181
Ensembl chr10:94,486,205...94,488,180
JBrowse link
G Igf1 insulin-like growth factor 1 IEP associated with Acromegaly RGD PMID:10499542 RGD:10003127 NCBI chr 7:28,412,123...28,491,815
Ensembl chr 7:28,412,198...28,486,609
JBrowse link
Osteopoikilosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lemd3 LEM domain containing 3 ISO ClinVar Annotator: match by null ClinVar PMID:15489854 NCBI chr 7:62,976,671...63,045,860
Ensembl chr 7:62,996,336...63,045,728
JBrowse link
osteoporosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abl1 ABL proto-oncogene 1, non-receptor tyrosine kinase ISO RGD PMID:10700189 RGD:10047094 NCBI chr 3:10,041,820...10,145,076
Ensembl chr 3:10,041,826...10,144,388
JBrowse link
G Ace angiotensin I converting enzyme IMP associated with Hypertension RGD PMID:19590507 RGD:2325225 NCBI chr10:94,170,766...94,213,831
Ensembl chr10:94,170,766...94,187,822
JBrowse link
G Actg1 actin, gamma 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr10:109,518,429...109,521,288
Ensembl chr 3:75,643,054...75,644,954
Ensembl chr10:75,643,054...75,644,954
JBrowse link
G Adcy5 adenylate cyclase 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18029912 NCBI chr11:68,695,839...68,842,452
Ensembl chr11:68,695,839...68,842,320
JBrowse link
G Ager advanced glycosylation end product-specific receptor ISO
IEP
mRNA:increased expression:proximal end of left femur (rat) RGD PMID:21542009, PMID:22036861 RGD:6767561, RGD:7245948 NCBI chr20:4,363,152...4,366,079
Ensembl chr20:4,363,152...4,366,079
JBrowse link
G Antxr2 ANTXR cell adhesion molecule 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12973667 NCBI chr14:13,191,716...13,331,286
Ensembl chr14:13,192,347...13,274,978
JBrowse link
G Anxa2 annexin A2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr 8:75,687,134...75,723,589
Ensembl chr 8:75,687,100...75,723,594
JBrowse link
G Ar androgen receptor treatment IDA
ISO
RGD PMID:14600402, PMID:18847323 RGD:10043196, RGD:10043198 NCBI chr  X:67,656,253...67,828,998
Ensembl chr  X:67,656,253...67,829,026
JBrowse link
G Atic 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr 9:78,862,013...78,882,061
Ensembl chr 9:78,862,013...78,882,060
JBrowse link
G Atm ATM serine/threonine kinase ISO RGD PMID:16644862 RGD:10047420 NCBI chr 8:58,015,938...58,119,973
Ensembl chr 8:58,015,940...58,120,045
JBrowse link
G Atp4b ATPase H+/K+ transporting subunit beta treatment ISO RGD PMID:26869358 RGD:14696735 NCBI chr16:81,136,218...81,145,131
Ensembl chr16:81,136,218...81,145,131
JBrowse link
G Bax BCL2 associated X, apoptosis regulator treatment IEP RGD PMID:22648569 RGD:10054093 NCBI chr 1:101,451,801...101,457,207
Ensembl chr 1:101,451,802...101,457,207
JBrowse link
G Bcl2 BCL2, apoptosis regulator treatment IEP RGD PMID:22648569 RGD:10054093 NCBI chr13:26,605,426...26,769,374
Ensembl chr13:26,605,426...26,769,374
JBrowse link
G Bglap bone gamma-carboxyglutamate protein susceptibility IDA
ISO
DNA:SNP, haplotype:promoter:g.-298C>T (human)
associated with Diabetes Mellitus, type 2;associated with Diabetes Mellitus, type 2; protein:uncercarboxylated:serum
RGD PMID:21550389, PMID:23137636, PMID:15108065 RGD:6483552, RGD:10045665, RGD:6483579 NCBI chr 2:187,741,770...187,748,445
Ensembl chr 2:187,741,770...187,742,747
JBrowse link
G Bmp2 bone morphogenetic protein 2 ISO RGD PMID:17002564 RGD:1625350 NCBI chr 3:126,335,963...126,346,771
Ensembl chr 3:126,335,863...126,346,318
JBrowse link
G Calca calcitonin-related polypeptide alpha ISO RGD PMID:2502220 RGD:734677 NCBI chr 1:184,184,018...184,188,922
Ensembl chr 1:184,184,020...184,188,911
JBrowse link
G Calcr calcitonin receptor susceptibility ISO ClinVar Annotator: match by term: Bone mineral density quantitative trait locus 15
DNA:SNP:cds:g.1340T>C (human)
OMIM
ClinVar
PMID:9003491, PMID:9571205, PMID:9817931, PMID:23137636 RGD:10045665 NCBI chr 4:28,627,439...28,702,559
Ensembl chr 4:28,627,442...28,702,559
JBrowse link
G Cap1 cyclase associated actin cytoskeleton regulatory protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr 5:140,559,195...140,585,494
Ensembl chr 5:140,559,206...140,585,408
JBrowse link
G Car2 carbonic anhydrase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr 2:88,097,740...88,112,868
Ensembl chr 2:88,097,720...88,113,029
JBrowse link
G Cct2 chaperonin containing TCP1 subunit 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr 7:60,106,532...60,122,779
Ensembl chr 7:60,109,974...60,122,805
JBrowse link
G Ciita class II, major histocompatibility complex, transactivator ISS OMIM:166710 MouseDO NCBI chr10:5,212,621...5,260,641
Ensembl chr10:5,213,350...5,260,608
JBrowse link
G Clec11a C-type lectin domain containing 11A ISO CTD Direct Evidence: marker/mechanism CTD PMID:27976999 NCBI chr 1:100,290,374...100,293,515
Ensembl chr 1:100,289,295...100,293,558
JBrowse link
G Col1a1 collagen type I alpha 1 chain susceptibility ISO ClinVar Annotator: match by term: OSTEOPOROSIS, INVOLUTIONAL
associated with Beta-Thalassemia;DNA:SNP:intron:g.2046G>T (human)
DNA:SNP, haplotype:intron:g.2046G>T (human)
OMIM
ClinVar
PMID:2037280, PMID:7695699, PMID:7942841, PMID:8218237, PMID:8408653, PMID:8613526, PMID:8669434, PMID:8808594, PMID:9016532, PMID:9067755, PMID:9295084, PMID:9443882, PMID:10931857, PMID:12590186, PMID:15024692, PMID:15024745, PMID:15741671, PMID:15864348, PMID:15931785, PMID:17078022, PMID:17309652, PMID:18412368, PMID:18553566, PMID:18704262, PMID:19344236, PMID:19358256, PMID:21249479, PMID:21567126, PMID:21667357, PMID:22589248, PMID:22753364, PMID:24390061, PMID:25086671, PMID:25741868, PMID:25944380, PMID:25963598, PMID:26177859, PMID:26467025, PMID:27132807, PMID:27509835, PMID:27510842, PMID:27748872, PMID:28378289, PMID:28492532, PMID:19143970, PMID:23137636 RGD:11041180, RGD:10045665 NCBI chr10:82,745,801...82,762,790
Ensembl chr10:82,745,801...82,762,789
JBrowse link
G Col1a2 collagen type I alpha 2 chain ISO ClinVar Annotator: match by term: OSTEOPOROSIS, INVOLUTIONAL OMIM
ClinVar
PMID:7695699, PMID:7860070, PMID:8094076, PMID:8218237, PMID:9016532, PMID:9272740, PMID:9594376, PMID:16705691, PMID:17078022, PMID:19344236, PMID:21520333, PMID:22589248, PMID:25326637, PMID:25450603, PMID:25741868, PMID:25944380, PMID:26604951, PMID:27519266, PMID:28492532, PMID:30311386 NCBI chr 4:31,534,225...31,569,152
Ensembl chr 4:31,534,225...31,569,151
JBrowse link
G Ctsk cathepsin K ISO RGD PMID:10469835 RGD:734856 NCBI chr 2:196,655,469...196,666,447
Ensembl chr 2:196,655,469...196,666,446
JBrowse link
G Cxcr4 C-X-C motif chemokine receptor 4 ISO RGD PMID:29882473 RGD:14700776 NCBI chr13:45,314,952...45,318,856
Ensembl chr13:45,314,933...45,318,878
JBrowse link
G Cyp17a1 cytochrome P450, family 17, subfamily a, polypeptide 1 ISO DNA:snps:multiple (human) RGD PMID:17002564 RGD:1625350 NCBI chr 1:266,422,127...266,429,947
Ensembl chr 1:266,422,132...266,428,239
JBrowse link
G Cyp19a1 cytochrome P450, family 19, subfamily a, polypeptide 1 ISO DNA:snps:multiple (human)
CTD Direct Evidence: marker/mechanism
CTD PMID:20723554, PMID:17002564 RGD:1625350 NCBI chr 8:58,744,849...58,772,408
Ensembl chr 8:58,744,849...58,772,408
JBrowse link
G Cyp24a1 cytochrome P450, family 24, subfamily a, polypeptide 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22337913 NCBI chr 3:168,097,484...168,111,920
Ensembl chr 3:168,097,485...168,111,920
JBrowse link
G Daam2 dishevelled associated activator of morphogenesis 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30598549 NCBI chr 9:13,444,883...13,493,154
Ensembl chr 9:13,446,896...13,490,669
JBrowse link
G Dbp D-box binding PAR bZIP transcription factor ISO RGD PMID:17002564 RGD:1625350 NCBI chr 1:101,687,896...101,692,845
Ensembl chr 1:101,687,855...101,692,846
JBrowse link
G Dspp dentin sialophosphoprotein IEP protein:decreased expression:incisor dental pulp (rat) RGD PMID:23974864 RGD:12911019 NCBI chr14:6,926,972...6,933,079
Ensembl chr14:6,926,976...6,933,070
JBrowse link
G Eno1 enolase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr 5:167,288,223...167,299,610
Ensembl chr 5:167,288,223...167,299,609
JBrowse link
G Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit ISO RGD PMID:23281008 RGD:10045609 NCBI chr 1:80,256,973...80,268,198
Ensembl chr 1:80,256,973...80,268,198
JBrowse link
G Esr1 estrogen receptor 1 no_association
treatment
ISO
IEP
DNA:SNP:intron:397T>C (human)
DNA:repeat:5' utr:g.-1174(TA)10-27 (human)
DNA:SNP:exon:2014G>A (human)
DNA:repeat:intron:IVS5+225(CA)18-25 (human)
DNA:SNPs:intron: (rs2234693, rs9340799) (human)
DNA:SNP, haplotype:intron:g.938C>T (human)
RGD PMID:23137636, PMID:21421090, PMID:17953702, PMID:17953702, PMID:10773580, PMID:16955786, PMID:17896124, PMID:20116372, PMID:16530497 RGD:10045665, RGD:10045841, RGD:10045839, RGD:10045839, RGD:10045834, RGD:8694129, RGD:10045828, RGD:10045826, RGD:10045825 NCBI chr 1:41,192,029...41,594,799
Ensembl chr 1:41,192,824...41,594,796
JBrowse link
G Esr2 estrogen receptor 2 susceptibility
treatment
ISO
IEP
DNA:SNP, haplotypes: :-1213T>C (human)
DNA:SNP, haplotype:3'utr:*39A>G (human)
DNA:repeat:3' utr: g.dupCA (human)
RGD PMID:16777502, PMID:21421090, PMID:16530497, PMID:16955786, PMID:22948905 RGD:1626507, RGD:10045841, RGD:10045825, RGD:8694129, RGD:7364765 NCBI chr 6:99,163,953...99,214,711
Ensembl chr 6:99,164,357...99,214,251
JBrowse link
G Esrra estrogen related receptor, alpha ISO RGD PMID:19936213 RGD:10401868 NCBI chr 1:222,168,729...222,178,842
Ensembl chr 1:222,168,730...222,178,725
JBrowse link
G Fga fibrinogen alpha chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr 2:181,997,562...182,013,726
Ensembl chr 2:182,006,242...182,013,763
JBrowse link
G Fgb fibrinogen beta chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr 2:182,028,044...182,035,026
Ensembl chr 2:182,027,115...182,038,178
JBrowse link
G Fig4 FIG4 phosphoinositide 5-phosphatase ISO ClinVar Annotator: match by term: Osteoporosis ClinVar PMID:21705420, PMID:23623387, PMID:24033266, PMID:26467025, PMID:28492532, PMID:30311386 NCBI chr20:45,922,806...46,044,754
Ensembl chr20:45,922,806...46,044,738
JBrowse link
G G6pd glucose-6-phosphate dehydrogenase ISO ClinVar Annotator: match by term: Bone mineral density quantitative trait locus 18
ClinVar Annotator: match by term: Osteoporosis
ClinVar PMID:5448, PMID:1303173, PMID:1562739, PMID:1631957, PMID:1978554, PMID:2263506, PMID:2321910, PMID:2503817, PMID:2572288, PMID:2836867, PMID:3393536, PMID:3446582, PMID:4359638, PMID:4388132, PMID:6015571, PMID:6714986, PMID:7949118, PMID:8447319, PMID:8537082, PMID:8611726, PMID:8860013, PMID:9299858, PMID:9858856, PMID:10643148, PMID:10734064, PMID:11499668, PMID:12367584, PMID:12737938, PMID:14278484, PMID:16143877, PMID:16356170, PMID:17726510, PMID:20203002, PMID:21446359, PMID:23365477, PMID:25541721, PMID:25741868, PMID:25775246, PMID:26060661, PMID:26633385, PMID:26823837, PMID:27287612, PMID:28492532, PMID:30311386 NCBI chr  X:156,274,800...156,293,935
Ensembl chr  X:156,274,800...156,293,926
JBrowse link
G Gapdh glyceraldehyde-3-phosphate dehydrogenase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr 4:157,676,336...157,680,322
Ensembl chr 4:157,676,595...157,679,962
JBrowse link
G Gh1 growth hormone 1 IEP associated with Diabetes Mellitus, Experimental RGD PMID:1466160 RGD:10003132 NCBI chr10:94,486,204...94,488,181
Ensembl chr10:94,486,205...94,488,180
JBrowse link
G Ghr growth hormone receptor treatment IEP associated with Uremia;protein:altered expression:osteoblast, osteoclast, chondroblast
associated with Cholestasis
RGD PMID:17647196, PMID:19424739 RGD:10003128, RGD:10003131 NCBI chr 2:53,149,225...53,413,954
Ensembl chr 2:53,150,370...53,413,638
JBrowse link
G Gorab golgin, RAB6-interacting ISO CTD Direct Evidence: marker/mechanism CTD PMID:18997784 NCBI chr13:81,682,207...81,698,827
Ensembl chr13:81,682,018...81,698,833
JBrowse link
G Gpc6 glypican 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28869591 NCBI chr15:102,164,091...103,174,721
Ensembl chr15:102,164,751...103,170,847
JBrowse link
G Gpd2 glycerol-3-phosphate dehydrogenase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr 3:43,223,892...43,359,069
Ensembl chr 3:43,255,567...43,359,074
JBrowse link
G Gpx1 glutathione peroxidase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr 8:117,117,430...117,118,528
Ensembl chr 8:117,117,430...117,118,522
JBrowse link
G Gsn gelsolin ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr 3:14,456,106...14,508,922
Ensembl chr 3:14,467,330...14,508,911
JBrowse link
G Gsr glutathione-disulfide reductase ISO protein:decreased expression:blood RGD PMID:19464221 RGD:10401828 NCBI chr16:62,197,617...62,239,987
Ensembl chr16:62,197,617...62,241,361
JBrowse link
G Gstp1 glutathione S-transferase pi 1 ISO associated with Cystic Fibrosis;DNA:missense mutation:cds:c.313A>G (p.I105V) (human) RGD PMID:24593045 RGD:10401929 NCBI chr 1:219,291,679...219,294,147
Ensembl chr 1:219,291,679...219,294,147
JBrowse link
G Hfe homeostatic iron regulator ISO associated with hemochromatosis RGD PMID:26829642 RGD:14746963 NCBI chr17:43,661,276...43,669,327
Ensembl chr17:43,661,222...43,669,985
JBrowse link
G Htr2c 5-hydroxytryptamine receptor 2C ISO ClinVar Annotator: match by term: Bone mineral density quantitative trait locus 18 ClinVar PMID:24088041, PMID:26633545 NCBI chr  X:118,084,520...118,318,040
Ensembl chr  X:118,084,890...118,318,039
JBrowse link
G Id4 inhibitor of DNA binding 4, HLH protein ISS OMIM:166710 MouseDO NCBI chr17:16,692,557...16,695,126
Ensembl chr17:16,692,557...16,695,126
JBrowse link
G Idh2 isocitrate dehydrogenase (NADP(+)) 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr 1:141,874,354...141,893,674
Ensembl chr 1:141,866,283...141,893,705
JBrowse link
G Ifngr1 interferon gamma receptor 1 ISS OMIM:166710 MouseDO NCBI chr 1:15,062,380...15,080,815
Ensembl chr 1:15,062,432...15,080,907
JBrowse link
G Igf1 insulin-like growth factor 1 treatment ISO
IEP
associated with Diabetes Mellitus, Experimental
associated with Cholestasis
associated with Uremia;protein:altered expression:osteoblast, osteoclast, chondroblast
RGD PMID:10499542, PMID:1466160, PMID:19424739, PMID:17647196 RGD:10003127, RGD:10003132, RGD:10003131, RGD:10003128 NCBI chr 7:28,412,123...28,491,815
Ensembl chr 7:28,412,198...28,486,609
JBrowse link
G Igf1r insulin-like growth factor 1 receptor ISO RGD PMID:18079194 RGD:10045888 NCBI chr 1:128,924,921...129,213,816
Ensembl chr 1:128,924,966...129,206,516
JBrowse link
G Igf2 insulin-like growth factor 2 treatment IDA RGD PMID:12162999 RGD:10402555 NCBI chr 1:215,828,102...215,839,081
Ensembl chr 1:215,828,102...215,846,911
JBrowse link
G Igfbp3 insulin-like growth factor binding protein 3 ISO protein:decreased expression:serum RGD PMID:9284698 RGD:10402579 NCBI chr14:87,457,647...87,465,374
Ensembl chr14:87,457,647...87,465,374
JBrowse link
G Il13ra2 interleukin 13 receptor subunit alpha 2 ISO ClinVar Annotator: match by term: Bone mineral density quantitative trait locus 18 ClinVar PMID:24088041, PMID:26633545 NCBI chr  X:118,443,955...118,514,716
Ensembl chr  X:118,443,823...118,513,061
JBrowse link
G Il1a interleukin 1 alpha ISO associated with Arthritis, Rheumatoid RGD PMID:10555884 RGD:6907107 NCBI chr 3:121,824,712...121,836,122
Ensembl chr 3:121,825,412...121,836,086
JBrowse link
G Il1b interleukin 1 beta IDA RGD PMID:22997530 RGD:7204491 NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
JBrowse link
G Il1rn interleukin 1 receptor antagonist treatment ISO human protein in a rat model RGD PMID:8182127 RGD:8551834 NCBI chr 3:1,449,778...1,468,624
Ensembl chr 3:1,452,644...1,468,614
JBrowse link
G Il6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15995586 NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
JBrowse link
G Il6r interleukin 6 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:15995586 NCBI chr 2:189,196,180...189,255,987
Ensembl chr 2:189,205,701...189,254,628
JBrowse link
G Irak3 interleukin-1 receptor-associated kinase 3 ISS OMIM:166710 MouseDO NCBI chr 7:64,922,830...64,982,224
Ensembl chr 7:64,923,615...64,982,281
JBrowse link
G Irs1 insulin receptor substrate 1 IEP mRNA, protein:decreased expression:multiple RGD PMID:22820932 RGD:7207063 NCBI chr 9:88,033,668...88,086,488
Ensembl chr 9:88,033,668...88,086,488
JBrowse link
G Irs2 insulin receptor substrate 2 IEP associated with Diabetes Mellitus, Type 2; protein:decreased expression:liver,kidney, muscle: RGD PMID:22820932 RGD:7207063 NCBI chr16:83,824,515...83,848,569
Ensembl chr16:83,824,430...83,848,684
JBrowse link
G Kl Klotho ISO CTD Direct Evidence: marker/mechanism CTD PMID:9363890, PMID:9363890 RGD:10403047 NCBI chr12:942,974...987,206
Ensembl chr12:943,006...987,551
JBrowse link
G Lep leptin treatment ISO
IDA
IEP
associated with chronic obstructive pulmonary disease; protein:decreased expression:serum
human protein in a rat model
protein:increased expression:serum (rat)
RGD PMID:21376149, PMID:11459801, PMID:12609558, PMID:24250662 RGD:5128771, RGD:10053630, RGD:10053615, RGD:10053572 NCBI chr 4:56,337,695...56,351,818
Ensembl chr 4:56,337,695...56,351,818
JBrowse link
G Lepr leptin receptor susceptibility ISO DNA:polymorphisms:cds:p.K109R,Q223R(human) RGD PMID:23460508 RGD:10411886 NCBI chr 5:120,503,475...120,682,281
Ensembl chr 5:120,564,645...120,682,221
JBrowse link
G Lgr4 leucine-rich repeat-containing G protein-coupled receptor 4 susceptibility ISO ClinVar Annotator: match by term: Bone mineral density quantitative trait locus 17
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:23644456 NCBI chr 3:101,051,960...101,152,119
Ensembl chr 3:101,051,955...101,152,119
JBrowse link
G Lrch2 leucine rich repeats and calponin homology domain containing 2 ISO ClinVar Annotator: match by term: Bone mineral density quantitative trait locus 18 ClinVar PMID:24088041, PMID:26633545 NCBI chr  X:118,532,396...118,615,845
Ensembl chr  X:118,534,912...118,615,798
JBrowse link
G Lrp5 LDL receptor related protein 5 treatment ISO
IEP
ClinVar Annotator: match by term: Bone mineral density quantitative trait locus 1
ClinVar Annotator: match by term: Osteoporosis
ClinVar Annotator: match by term: High bone mass
ClinVar Annotator: match by OMIM:166710
ClinVar
OMIM
PMID:11719191, PMID:11741193, PMID:11793484, PMID:12015390, PMID:12054167, PMID:12579474, PMID:14727154, PMID:15077203, PMID:15141052, PMID:15346351, PMID:15767861, PMID:15824851, PMID:16679074, PMID:17052975, PMID:17137849, PMID:17223614, PMID:17306638, PMID:17395706, PMID:17505772, PMID:18588671, PMID:20652025, PMID:22487062, PMID:25741868, PMID:26467025, PMID:28111184, PMID:28492532, PMID:28677207, PMID:17002564, PMID:22704852, PMID:21977807 RGD:1625350, RGD:7240519, RGD:12793063 NCBI chr 1:218,816,833...218,920,147
Ensembl chr 1:218,816,841...218,920,094
JBrowse link
G Ltf lactotransferrin ISO CTD Direct Evidence: therapeutic CTD PMID:16648989, PMID:16936800 NCBI chr 8:119,290,416...119,313,261
Ensembl chr 8:119,290,416...119,313,261
JBrowse link
G Luzp4 leucine zipper protein 4 ISO ClinVar Annotator: match by term: Bone mineral density quantitative trait locus 18 ClinVar PMID:24088041, PMID:26633545 NCBI chr  X:118,725,749...118,766,413 JBrowse link
G Mapk14 mitogen activated protein kinase 14 treatment IMP RGD PMID:18442314 RGD:10045965 NCBI chr20:5,933,290...5,995,137
Ensembl chr20:5,933,303...5,995,137
JBrowse link
G Mgll monoglyceride lipase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr 4:120,671,436...120,773,458
Ensembl chr 4:120,671,489...120,771,088
JBrowse link
G Mir152 microRNA 152 IEP miRNA:increased expression:femur RGD PMID:31492082 RGD:21066345 NCBI chr10:84,719,319...84,719,403
Ensembl chr10:84,719,319...84,719,403
JBrowse link
G Mir448 microRNA 448 ISO ClinVar Annotator: match by term: Bone mineral density quantitative trait locus 18 ClinVar PMID:24088041, PMID:26633545 NCBI chr  X:118,277,684...118,277,795
Ensembl chr  X:118,277,684...118,277,795
JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO associated with osteoporosis; protein:increased expression:serum RGD PMID:19411568 RGD:5129553 NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
JBrowse link
G Myc MYC proto-oncogene, bHLH transcription factor IDA RGD PMID:22704852 RGD:7240519 NCBI chr 7:102,586,313...102,591,240
Ensembl chr 7:102,586,313...102,591,240
JBrowse link
G Nog noggin ISO RGD PMID:12975477 RGD:10414323 NCBI chr10:76,811,759...76,813,386
Ensembl chr10:76,811,759...76,813,386
JBrowse link
G Nrip1 nuclear receptor interacting protein 1 ISO DNA:silent mutation, haplotype:p.G75G (human) RGD PMID:16530497 RGD:10045825 NCBI chr11:14,658,225...14,742,478
Ensembl chr11:14,658,225...14,741,563
JBrowse link
G Opa1 OPA1, mitochondrial dynamin like GTPase ISO ClinVar Annotator: match by term: Osteoporosis ClinVar PMID:25741868 NCBI chr11:74,717,600...74,793,902
Ensembl chr11:74,720,254...74,793,803
JBrowse link
G Oxct1 3-oxoacid CoA transferase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr 2:53,859,738...54,007,733
Ensembl chr 2:53,859,737...54,007,756
JBrowse link
G P4hb prolyl 4-hydroxylase subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr10:109,736,459...109,748,070
Ensembl chr10:109,736,458...109,747,987
JBrowse link
G Park7 Parkinsonism associated deglycase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr 5:167,982,438...168,004,724
Ensembl chr 5:167,982,439...168,004,724
JBrowse link
G Pcna proliferating cell nuclear antigen IEP protein:increased expression:osteoblast: RGD PMID:22550338 RGD:10045656 NCBI chr 3:124,880,698...124,884,570
Ensembl chr 3:124,880,698...124,884,570
JBrowse link
G Pdlim4 PDZ and LIM domain 4 ISO ClinVar Annotator: match by term: Bone mineral density quantitative trait locus 15 ClinVar
OMIM
PMID:12908099 NCBI chr10:39,390,578...39,405,322
Ensembl chr10:39,390,581...39,405,311
JBrowse link
G Pgls 6-phosphogluconolactonase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr16:20,020,444...20,025,930
Ensembl chr16:20,020,444...20,025,930
JBrowse link
G Pkm pyruvate kinase M1/2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr 8:64,480,963...64,502,957
Ensembl chr 8:64,481,172...64,502,722
JBrowse link
G Plek pleckstrin ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr14:100,151,518...100,184,192
Ensembl chr14:100,151,210...100,217,913
JBrowse link
G Pls3 plastin 3 ISO ClinVar Annotator: match by term: Bone mineral density quantitative trait locus 18 ClinVar
OMIM
PMID:24088041, PMID:24088043, PMID:26633545 NCBI chr  X:119,030,311...119,124,268
Ensembl chr  X:119,030,419...119,124,250
JBrowse link
G Pnp purine nucleoside phosphorylase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr15:27,875,883...27,883,566
Ensembl chr15:27,875,911...27,883,350
JBrowse link
G Pomc proopiomelanocortin ISO CTD Direct Evidence: marker/mechanism CTD PMID:3017235, PMID:4367732, PMID:6143199, PMID:6254450, PMID:19153526 NCBI chr 6:28,382,937...28,388,771
Ensembl chr 6:28,382,962...28,388,967
JBrowse link
G Prdx3 peroxiredoxin 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr 1:282,238,774...282,251,193
Ensembl chr 1:282,238,773...282,251,257
JBrowse link
G Psma2 proteasome 20S subunit alpha 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr17:53,091,937...53,102,324
Ensembl chr17:53,091,933...53,102,342
JBrowse link
G Psma5 proteasome 20S subunit alpha 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr 2:211,050,344...211,073,706
Ensembl chr 2:211,050,360...211,073,714
JBrowse link
G Ptger4 prostaglandin E receptor 4 treatment IMP RGD PMID:16442794 RGD:10043381 NCBI chr 2:54,951,625...54,966,470
Ensembl chr 2:54,952,821...54,963,448
JBrowse link
G Pth parathyroid hormone treatment IDA
ISO
IEP
CTD Direct Evidence: therapeutic
protein:decreased expression:serum (rat)
CTD PMID:15710971, PMID:17317460, PMID:17882678, PMID:19578808, PMID:21306167, PMID:30639440, PMID:23161222, PMID:22312238 RGD:7242793, RGD:7242907 NCBI chr 1:178,215,829...178,218,761
Ensembl chr 1:178,215,829...178,218,761
JBrowse link
G Rab7b Rab7b, member RAS oncogene family ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr13:48,456,143...48,483,714
Ensembl chr13:48,455,923...48,482,138
JBrowse link
G Ren renin ISO CTD Direct Evidence: marker/mechanism CTD PMID:18847324 NCBI chr13:50,502,724...50,513,953
Ensembl chr13:50,502,724...50,514,151
JBrowse link
G Rsu1 Ras suppressor protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr17:80,388,477...80,577,338
Ensembl chr17:80,389,157...80,577,027
JBrowse link
G Ryr1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Osteoporosis ClinVar PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr 1:87,959,596...88,066,252
Ensembl chr 1:87,959,712...88,066,101
JBrowse link
G Scn5a sodium voltage-gated channel alpha subunit 5 ISO ClinVar Annotator: match by term: Osteoporosis ClinVar PMID:11710892, PMID:19597050, PMID:20129283, PMID:22581653, PMID:24033266, PMID:24400668, PMID:24613995, PMID:24681144, PMID:25741868, PMID:28492532, PMID:29728395, PMID:30311386 NCBI chr 8:128,169,191...128,266,681
Ensembl chr 8:128,169,191...128,266,639
JBrowse link
G Sirt1 sirtuin 1 treatment IDA
IMP
RGD PMID:22555620, PMID:25377437 RGD:10047129, RGD:10053568 NCBI chr20:26,831,971...26,851,587
Ensembl chr20:26,833,357...26,852,199
JBrowse link
G Sod2 superoxide dismutase 2 susceptibility
no_association
ISO DNA:SNPs:intron, exon:g.31A>G, g.327C>T (p.A16V) (rs5746094, rs4880) (human)
CTD Direct Evidence: marker/mechanism
DNA:SNPs:5' utr, exon, intron:multiple
CTD PMID:18924182, PMID:26336112, PMID:26336112 RGD:11035299, RGD:11035299 NCBI chr 1:47,914,757...47,921,587
Ensembl chr 1:47,914,759...47,921,587
JBrowse link
G Terc telomerase RNA component ISS OMIM:166710 MouseDO NCBI chr 2:116,432,723...116,433,110
Ensembl chr 2:116,432,691...116,433,110
JBrowse link
G Tgfb1 transforming growth factor, beta 1 treatment IEP
ISO
associated with Uremia;protein:increased expression:osteoblast, osteoclast
CTD Direct Evidence: marker/mechanism
CTD PMID:12706579, PMID:17647196 RGD:10003128 NCBI chr 1:82,480,875...82,497,196
Ensembl chr 1:82,480,195...82,497,199
JBrowse link
G Tln1 talin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr 5:59,033,635...59,063,592
Ensembl chr 5:59,033,636...59,063,592
JBrowse link
G Tmem38b transmembrane protein 38B ISO ClinVar Annotator: match by term: Osteoporosis ClinVar PMID:30311386 NCBI chr 5:70,639,156...70,675,055
Ensembl chr 5:70,639,156...70,675,054
JBrowse link
G Tnfrsf11a TNF receptor superfamily member 11A ISO RGD PMID:17002564 RGD:1625350 NCBI chr13:25,778,306...25,835,802
Ensembl chr13:25,778,317...25,835,957
JBrowse link
G Tnfrsf11b TNF receptor superfamily member 11B ISO CTD Direct Evidence: marker/mechanism CTD PMID:17667143 NCBI chr 7:93,798,580...93,826,586
Ensembl chr 7:93,798,545...93,826,665
JBrowse link
G Tnfrsf1b TNF receptor superfamily member 1B ISO RGD PMID:17002564 RGD:1625350 NCBI chr 5:163,136,390...163,167,299
Ensembl chr 5:163,136,390...163,167,299
JBrowse link
G Tnfsf11 TNF superfamily member 11 ISO CTD Direct Evidence: therapeutic CTD PMID:17882678, PMID:17002564 RGD:1625350 NCBI chr15:60,482,527...60,512,704
Ensembl chr15:60,482,527...60,512,704
JBrowse link
G Tpi1 triosephosphate isomerase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr 4:157,328,375...157,331,905
Ensembl chr 4:157,328,379...157,331,905
JBrowse link
G Tpm4 tropomyosin 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr16:19,385,810...19,399,851
Ensembl chr16:19,385,736...19,399,903
JBrowse link
G Tuba1b tubulin, alpha 1B ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr 7:140,614,746...140,617,721
Ensembl chr 7:140,614,752...140,617,721
JBrowse link
G Tuba1c tubulin, alpha 1C ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr 7:140,716,113...140,723,717
Ensembl chr 7:140,716,113...140,723,714
JBrowse link
G U2af1 U2 small nuclear RNA auxiliary factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr20:10,396,652...10,407,564
Ensembl chr20:10,396,621...10,407,554
JBrowse link
G Ugt2b17 UDP glucuronosyltransferase family 2 member B17 ISO ClinVar Annotator: match by term: Bone mineral density quantitative trait locus 12 ClinVar
OMIM
PMID:18992858 NCBI chr14:22,724,399...22,736,148
Ensembl chr14:22,724,070...22,825,444
JBrowse link
G Vcl vinculin ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr15:3,455,211...3,544,738
Ensembl chr15:3,455,211...3,544,702
JBrowse link
G Vdr vitamin D receptor no_association ISO
ISS
associated with Cystic Fibrosis
OMIM:166710
MouseDO PMID:16713399 RGD:4889871 NCBI chr 7:139,344,452...139,394,138
Ensembl chr 7:139,342,063...139,394,166
JBrowse link
G Wdr1 WD repeat domain 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr14:76,990,014...77,023,739
Ensembl chr14:76,989,919...77,023,726
JBrowse link
G Wnt1 Wnt family member 1 susceptibility ISO ClinVar Annotator: match by term: Bone mineral density quantitative trait locus 16
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:23499309, PMID:23656646 NCBI chr 7:140,464,999...140,469,046
Ensembl chr 7:140,464,999...140,469,046
JBrowse link
G Wrn WRN RecQ like helicase ISO ClinVar Annotator: match by term: Osteoporosis ClinVar PMID:25741868, PMID:30311386 NCBI chr16:62,483,773...62,619,018
Ensembl chr16:62,483,761...62,615,375
JBrowse link
G Zdhhc13 zinc finger DHHC-type palmitoyltransferase 13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20548961 NCBI chr 1:104,106,211...104,145,045
Ensembl chr 1:104,106,245...104,145,044
JBrowse link
osteosclerosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clcn7 chloride voltage-gated channel 7 ISO ClinVar Annotator: match by term: Osteosclerosis ClinVar PMID:30311386 NCBI chr10:14,492,844...14,518,167
Ensembl chr10:14,492,844...14,516,894
JBrowse link
G Ltbp3 latent transforming growth factor beta binding protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11790802, PMID:12379497 NCBI chr 1:221,099,155...221,116,096
Ensembl chr 1:221,099,998...221,116,096
JBrowse link
G Tbce tubulin folding cofactor E ISO CTD Direct Evidence: marker/mechanism CTD PMID:12389028 NCBI chr17:53,983,126...54,029,028
Ensembl chr17:53,983,182...54,029,027
JBrowse link
Osteosclerotic Metaphyseal Dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lrrk1 leucine-rich repeat kinase 1 ISO ClinVar Annotator: match by term: Osteosclerotic metaphyseal dysplasia ClinVar PMID:25741868 NCBI chr 1:127,166,866...127,301,053
Ensembl chr 1:127,166,431...127,292,090
JBrowse link
Paget Disease of Bone 2, Early-Onset term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sqstm1 sequestosome 1 ISO ClinVar Annotator: match by term: Paget disease of bone 2, early-onset ClinVar PMID:11992264, PMID:15176995, PMID:15493999, PMID:15647816, PMID:15765181, PMID:16813535, PMID:17229007, PMID:18543015, PMID:18765443, PMID:19257822, PMID:19589897, PMID:20499339, PMID:21195346, PMID:21515589, PMID:21878516, PMID:22084127, PMID:23417734, PMID:23942205, PMID:24033266, PMID:24042580, PMID:24899140, PMID:25241215, PMID:25741868, PMID:26467025, PMID:26627873, PMID:26713335, PMID:27275741, PMID:27594680, PMID:28430856, PMID:28492532, PMID:29457785, PMID:29599744, PMID:30154079 NCBI chr10:35,704,728...35,716,316
Ensembl chr10:35,704,730...35,716,294
JBrowse link
G Tnfrsf11a TNF receptor superfamily member 11A ISO ClinVar Annotator: match by term: Paget disease of bone 2, early-onset ClinVar
OMIM
PMID:10615125, PMID:11771666, PMID:12568416, PMID:17447113, PMID:25063546, PMID:25741868, PMID:28492532 NCBI chr13:25,778,306...25,835,802
Ensembl chr13:25,778,317...25,835,957
JBrowse link
Paget Disease of Bone 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mrnip MRN complex interacting protein ISO ClinVar Annotator: match by term: Paget disease of bone 3 ClinVar NCBI chr10:35,680,687...35,704,685
Ensembl chr10:35,680,658...35,704,776
JBrowse link
G Sqstm1 sequestosome 1 ISO ClinVar Annotator: match by term: Paget disease of bone 3 OMIM
ClinVar
PMID:11992264, PMID:12374763, PMID:15176995, PMID:15493999, PMID:15647816, PMID:15765181, PMID:16813535, PMID:17129171, PMID:17229007, PMID:18543015, PMID:18765443, PMID:19257822, PMID:19589897, PMID:20499339, PMID:21195346, PMID:21515589, PMID:21878516, PMID:22084127, PMID:23303844, PMID:23417734, PMID:23447461, PMID:23612225, PMID:23812289, PMID:23820649, PMID:23942205, PMID:24033266, PMID:24042580, PMID:24486447, PMID:24899140, PMID:25241215, PMID:25382069, PMID:25512523, PMID:25741868, PMID:25796131, PMID:25852467, PMID:26208961, PMID:26467025, PMID:26627873, PMID:26713335, PMID:26836416, PMID:27275741, PMID:27594680, PMID:28430856, PMID:28492532, PMID:29457785, PMID:29599744, PMID:30154079 NCBI chr10:35,704,728...35,716,316
Ensembl chr10:35,704,730...35,716,294
JBrowse link
Paget Disease of Bone 5, Juvenile-Onset term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Colec10 collectin subfamily member 10 ISO ClinVar Annotator: match by term: Hyperphosphatasemia with bone disease ClinVar PMID:106682, PMID:12124406 NCBI chr 7:93,975,451...94,035,999
Ensembl chr 7:93,975,451...94,035,999
JBrowse link
G Tnfrsf11b TNF receptor superfamily member 11B ISO ClinVar Annotator: match by term: Hyperphosphatasemia with bone disease ClinVar
OMIM
PMID:106682, PMID:12124406, PMID:12189164, PMID:14672344, PMID:19436932, PMID:23837846, PMID:25108083, PMID:25741868, PMID:28492532 NCBI chr 7:93,798,580...93,826,586
Ensembl chr 7:93,798,545...93,826,665
JBrowse link
Paget Disease of Bone 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zfp687 zinc finger protein 687 ISO ClinVar Annotator: match by term: PAGET DISEASE OF BONE 6
ClinVar Annotator: match by term: Paget disease of bone 6
ClinVar
OMIM
PMID:15123951, PMID:22936311, PMID:25741868, PMID:26849110 NCBI chr 2:196,172,266...196,180,946
Ensembl chr 2:196,172,712...196,177,775
JBrowse link
Paget's disease of bone term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Csf1 colony stimulating factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20436471 NCBI chr 2:210,522,370...210,550,546
Ensembl chr 2:210,522,375...210,550,560
JBrowse link
G Dcstamp dendrocyte expressed seven transmembrane protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:21623375 NCBI chr 7:78,642,016...78,651,763
Ensembl chr 7:78,649,875...78,650,906
JBrowse link
G Inpp5d inositol polyphosphate-5-phosphatase D ISS OMIM:167250 | OMIM:602080 | OMIM:606263 MouseDO NCBI chr 9:94,745,220...94,850,778
Ensembl chr 9:94,745,217...94,850,771
JBrowse link
G Mrnip MRN complex interacting protein ISO ClinVar Annotator: match by term: Paget disease of bone ClinVar NCBI chr10:35,680,687...35,704,685
Ensembl chr10:35,680,658...35,704,776
JBrowse link
G Nup205 nucleoporin 205 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21623375 NCBI chr 4:62,703,779...62,773,931
Ensembl chr 4:62,703,779...62,773,923
JBrowse link
G Optn optineurin ISO DNA:SNP: :rs1561570 (human)
CTD Direct Evidence: marker/mechanism
CTD PMID:20436471, PMID:21059646, PMID:20436471 RGD:6480512 NCBI chr17:77,167,700...77,218,374
Ensembl chr17:77,167,740...77,218,389
JBrowse link
G Pml PML nuclear body scaffold ISO CTD Direct Evidence: marker/mechanism CTD PMID:21623375 NCBI chr 8:63,002,515...63,034,310
Ensembl chr 8:63,004,870...63,034,226
JBrowse link
G Rin3 Ras and Rab interactor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21623375 NCBI chr 6:126,170,672...126,279,682
Ensembl chr 6:126,170,720...126,279,682
JBrowse link
G Sqstm1 sequestosome 1 ISO DNA:point mutation: :p.P392L (human)
ClinVar Annotator: match by term: Paget disease of bone, familial
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Osteitis deformans
ClinVar
CTD
PMID:11992264, PMID:15176995, PMID:15493999, PMID:15647816, PMID:15765181, PMID:16813535, PMID:17229007, PMID:18543015, PMID:18765443, PMID:19257822, PMID:19589897, PMID:20499339, PMID:21195346, PMID:21515589, PMID:21878516, PMID:22084127, PMID:23417734, PMID:23942205, PMID:24033266, PMID:24042580, PMID:24899140, PMID:25241215, PMID:25741868, PMID:26627873, PMID:26713335, PMID:27275741, PMID:27594680, PMID:28430856, PMID:28492532, PMID:29457785, PMID:29599744, PMID:30154079, PMID:11992264 RGD:1599121 NCBI chr10:35,704,728...35,716,316
Ensembl chr10:35,704,730...35,716,294
JBrowse link
G Tnfrsf11a TNF receptor superfamily member 11A ISO Paget disease of bone, OMIM:602080
ClinVar Annotator: match by term: Paget disease of bone
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:20436471, PMID:24033266, PMID:25741868, PMID:28492532, PMID:10615125 RGD:1599463 NCBI chr13:25,778,306...25,835,802
Ensembl chr13:25,778,317...25,835,957
JBrowse link
G Tnfrsf11b TNF receptor superfamily member 11B susceptibility ISO DNA:deletion:exon RGD PMID:12189164 RGD:1620794 NCBI chr 7:93,798,580...93,826,586
Ensembl chr 7:93,798,545...93,826,665
JBrowse link
G Vcp valosin-containing protein ISO IBMPFD, OMIM:167320 RGD PMID:15034582 RGD:1599735 NCBI chr 5:58,426,548...58,445,953
Ensembl chr 5:58,426,549...58,445,953
JBrowse link
G Zfp687 zinc finger protein 687 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:196,172,266...196,180,946
Ensembl chr 2:196,172,712...196,177,775
JBrowse link
Penttinen-Aula Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pdgfrb platelet derived growth factor receptor beta ISO ClinVar Annotator: match by term: Premature aging syndrome, Penttinen type OMIM
ClinVar
PMID:9056558, PMID:23720404, PMID:23731537, PMID:23731542, PMID:25158255, PMID:25741868, PMID:26279204, PMID:26455322, PMID:28183292, PMID:28334876, PMID:28492532, PMID:30311386 NCBI chr18:56,364,586...56,406,381
Ensembl chr18:56,364,620...56,406,381
JBrowse link
Postmenopausal Osteoporosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acp5 acid phosphatase 5, tartrate resistant IEP protein:increased expression:femur (rat) RGD PMID:19736603 RGD:2315910 NCBI chr 8:23,142,733...23,149,067
Ensembl chr 8:23,142,734...23,148,396
JBrowse link
G Ar androgen receptor ISO RGD PMID:12593895 RGD:1578682 NCBI chr  X:67,656,253...67,828,998
Ensembl chr  X:67,656,253...67,829,026
JBrowse link
G Bmp15 bone morphogenetic protein 15 susceptibility ISO DNA:SNPs, haplotype:5' utr, intron:g.-9C>G, IVS1+905A>G (human) RGD PMID:22335445 RGD:10045849 NCBI chr  X:17,016,831...17,021,894
Ensembl chr  X:17,016,778...17,023,418
JBrowse link
G Cat catalase ISO CTD Direct Evidence: marker/mechanism CTD PMID:17227729 NCBI chr 3:93,379,872...93,412,058
Ensembl chr 3:93,379,874...93,412,058
JBrowse link
G Col1a1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: Postmenopausal osteoporosis ClinVar PMID:2037280, PMID:7695699, PMID:7942841, PMID:8218237, PMID:8408653, PMID:8613526, PMID:8669434, PMID:8808594, PMID:9016532, PMID:9067755, PMID:9295084, PMID:9443882, PMID:10931857, PMID:12590186, PMID:15024692, PMID:15024745, PMID:15741671, PMID:15864348, PMID:15931785, PMID:17078022, PMID:17309652, PMID:18412368, PMID:18553566, PMID:18704262, PMID:19344236, PMID:19358256, PMID:21249479, PMID:21567126, PMID:21667357, PMID:22589248, PMID:22753364, PMID:24390061, PMID:25086671, PMID:25741868, PMID:25944380, PMID:25963598, PMID:26177859, PMID:26467025, PMID:27132807, PMID:27509835, PMID:27510842, PMID:27748872, PMID:28378289, PMID:28492532 NCBI chr10:82,745,801...82,762,790
Ensembl chr10:82,745,801...82,762,789
JBrowse link
G Col1a2 collagen type I alpha 2 chain ISO ClinVar Annotator: match by term: Postmenopausal osteoporosis ClinVar PMID:1463018, PMID:2052622, PMID:7695699, PMID:7860070, PMID:8094076, PMID:8218237, PMID:8786074, PMID:9016532, PMID:9272740, PMID:9594376, PMID:16705691, PMID:17078022, PMID:19344236, PMID:21520333, PMID:22589248, PMID:25326637, PMID:25450603, PMID:25741868, PMID:25944380, PMID:26604951, PMID:27519266, PMID:28492532, PMID:30311386 NCBI chr 4:31,534,225...31,569,152
Ensembl chr 4:31,534,225...31,569,151
JBrowse link
G Cyp19a1 cytochrome P450, family 19, subfamily a, polypeptide 1 ISO DNA:snps:exon:multiple (human) RGD PMID:17118999 RGD:1600860 NCBI chr 8:58,744,849...58,772,408
Ensembl chr 8:58,744,849...58,772,408
JBrowse link
G Esr1 estrogen receptor 1 treatment
susceptibility
ISO DNA:SNP:intron:IVS1T>C (human)
DNA:SNPs, haplotype:intron: (rs2234693, rs9340799) (human)
RGD PMID:16604479, PMID:16972020 RGD:8158082, RGD:10045838 NCBI chr 1:41,192,029...41,594,799
Ensembl chr 1:41,192,824...41,594,796
JBrowse link
G Esr2 estrogen receptor 2 susceptibility ISO DNA:SNP: :-1213T>C (human)
DNA:SNP, haplotype:3'utr:*39A>G (human)
DNA:repeat:intron:IVS5-3919(CA)18-26 (human)
RGD PMID:16777502, PMID:22335445, PMID:17945165 RGD:1626507, RGD:10045849, RGD:10045847 NCBI chr 6:99,163,953...99,214,711
Ensembl chr 6:99,164,357...99,214,251
JBrowse link
G Fdps farnesyl diphosphate synthase ISO CTD Direct Evidence: marker/mechanism CTD PMID:31774873 NCBI chr 2:188,403,595...188,413,219
Ensembl chr 2:188,392,858...188,413,219
JBrowse link
G Fgf23 fibroblast growth factor 23 ISO protein:increased expression: : RGD PMID:24101107 RGD:10044241 NCBI chr 4:159,622,404...159,630,082
Ensembl chr 4:159,622,404...159,630,082
JBrowse link
G Hif1a hypoxia inducible factor 1 subunit alpha treatment IMP
ISO
RGD PMID:24023068, PMID:18067744 RGD:10402191, RGD:10402540 NCBI chr 6:96,810,868...96,856,303
Ensembl chr 6:96,810,907...96,856,052
JBrowse link
G Igf1 insulin-like growth factor 1 ISO protein:decreased expression:serum: RGD PMID:11063288 RGD:10045861 NCBI chr 7:28,412,123...28,491,815
Ensembl chr 7:28,412,198...28,486,609
JBrowse link
G Igf2 insulin-like growth factor 2 treatment ISO RGD PMID:16753016 RGD:10402556 NCBI chr 1:215,828,102...215,839,081
Ensembl chr 1:215,828,102...215,846,911
JBrowse link
G Il1b interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:9032749 NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
JBrowse link
G Il6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9032749 NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
JBrowse link
G Il7 interleukin 7 treatment ISO RGD PMID:23662133 RGD:10402930 NCBI chr 2:96,427,884...96,474,979
Ensembl chr 2:96,439,286...96,474,977
JBrowse link
G Lrp5 LDL receptor related protein 5 ISO ClinVar Annotator: match by term: Postmenopausal osteoporosis ClinVar PMID:25741868, PMID:28492532 NCBI chr 1:218,816,833...218,920,147
Ensembl chr 1:218,816,841...218,920,094
JBrowse link
G Nrip1 nuclear receptor interacting protein 1 susceptibility ISO DNA:silent mutation:cds:p.G75G (human) RGD PMID:22335445 RGD:10045849 NCBI chr11:14,658,225...14,742,478
Ensembl chr11:14,658,225...14,741,563
JBrowse link
G Ptger4 prostaglandin E receptor 4 treatment IMP RGD PMID:11917107 RGD:10003045 NCBI chr 2:54,951,625...54,966,470
Ensembl chr 2:54,952,821...54,963,448
JBrowse link
G Pth parathyroid hormone ISO CTD Direct Evidence: therapeutic CTD PMID:20567999 NCBI chr 1:178,215,829...178,218,761
Ensembl chr 1:178,215,829...178,218,761
JBrowse link
G Ptk2b protein tyrosine kinase 2 beta IMP RGD PMID:17537919 RGD:1642610 NCBI chr15:42,827,306...42,947,796
Ensembl chr15:42,827,310...42,947,656
JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10750555 NCBI chr 1:82,480,875...82,497,196
Ensembl chr 1:82,480,195...82,497,199
JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:9032749 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
G Vdr vitamin D receptor treatment ISO DNA:SNP:exon: (rs2228570) (human) GAD
RGD
PMID:15118671, PMID:16604479 RGD:1331525, RGD:8158082 NCBI chr 7:139,344,452...139,394,138
Ensembl chr 7:139,342,063...139,394,166
JBrowse link
Progressive Diaphyseal Dysplasia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tgfb1 transforming growth factor, beta 1 ISO ClinVar Annotator: match by term: Diaphyseal dysplasia 1, progressive ClinVar PMID:16207846, PMID:17293864, PMID:18292811, PMID:18424453, PMID:25741868 NCBI chr 1:82,480,875...82,497,196
Ensembl chr 1:82,480,195...82,497,199
JBrowse link
Raine Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fam20c FAM20C, golgi associated secretory pathway kinase ISO ClinVar Annotator: match by term: Raine syndrome
DNA:deletion, snps, missense mutations:multiple (human)
ClinVar Annotator: match by OMIM:259775
OMIM
ClinVar
PMID:2020859, PMID:12868469, PMID:14564151, PMID:17924334, PMID:19250384, PMID:20825432, PMID:24033266, PMID:28492532, PMID:17924334 RGD:11560486 NCBI chr12:17,913,771...17,972,733
Ensembl chr12:17,913,767...17,972,737
JBrowse link
renal osteodystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pth parathyroid hormone ISO associated with Kidney Failure, Chronic; protein:decreased expression:serum (human) RGD PMID:18480316 RGD:7242687 NCBI chr 1:178,215,829...178,218,761
Ensembl chr 1:178,215,829...178,218,761
JBrowse link
rickets term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Casr calcium-sensing receptor ISO RGD PMID:12671052 RGD:734698 NCBI chr11:67,188,204...67,262,261
Ensembl chr11:67,188,630...67,258,771
JBrowse link
G Clcn5 chloride voltage-gated channel 5 ISO ClinVar Annotator: match by term: Rickets ClinVar PMID:30311386 NCBI chr  X:16,170,585...16,196,691
Ensembl chr  X:16,050,780...16,196,789
JBrowse link
G Cyp27b1 cytochrome P450, family 27, subfamily b, polypeptide 1 ISO vitamin D-dependent rickets type I, OMIM:264700;DNA:missense mutations: :R107H, G125E, R335P, P382S
ClinVar Annotator: match by term: Vitamin D-Dependent Rickets
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:16494812, PMID:9486994, PMID:11416220 RGD:1600874, RGD:734871 NCBI chr 7:70,333,150...70,340,006
Ensembl chr 7:70,335,061...70,340,005
JBrowse link
G Cyp2r1 cytochrome P450, family 2, subfamily r, polypeptide 1 ISS
ISO
OMIM:264700 | OMIM:277440 | OMIM:600081 | OMIM:600785
ClinVar Annotator: match by term: Rickets
MouseDO
ClinVar
PMID:30311386 NCBI chr 1:184,060,521...184,106,604
Ensembl chr 1:184,093,920...184,106,200
JBrowse link
G Dmp1 dentin matrix acidic phosphoprotein 1 ISO ClinVar Annotator: match by term: Rickets ClinVar PMID:28492532, PMID:30311386 NCBI chr14:6,889,851...6,923,961
Ensembl chr14:6,889,856...6,900,733
JBrowse link
G Fam20c FAM20C, golgi associated secretory pathway kinase ISS OMIM:264700 | OMIM:277440 | OMIM:600081 | OMIM:600785 MouseDO NCBI chr12:17,913,771...17,972,733
Ensembl chr12:17,913,767...17,972,737
JBrowse link
G Pth parathyroid hormone ISO CTD Direct Evidence: marker/mechanism CTD PMID:10375030 NCBI chr 1:178,215,829...178,218,761
Ensembl chr 1:178,215,829...178,218,761
JBrowse link
G Pth1r parathyroid hormone 1 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:10375030 NCBI chr 8:118,984,531...119,012,803
Ensembl chr 8:118,988,053...119,012,671
JBrowse link
G Vdr vitamin D receptor ISO VDDR II,OMIM:277440;DNA:point mutation:exon:p.G33D, p.R70G (human)
ClinVar Annotator: match by term: Vitamin D-Dependent Rickets
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:1338926, PMID:17451081, PMID:22466564, PMID:28492532, PMID:2849209 RGD:1624354 NCBI chr 7:139,344,452...139,394,138
Ensembl chr 7:139,342,063...139,394,166
JBrowse link
Schwartz-Lelek Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gja1 gap junction protein, alpha 1 ISO DNA:missense mutation: :c.716G>A (p.R239Q) (human) RGD PMID:23951358 RGD:8662399 NCBI chr20:37,876,650...37,889,097
Ensembl chr20:37,876,650...37,889,089
JBrowse link
sclerosteosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lrp4 LDL receptor related protein 4 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:80,362,643...80,416,684
Ensembl chr 3:80,362,858...80,416,679
JBrowse link
G Sost sclerostin ISO DNA:transition: :69C>T (human)
CTD Direct Evidence: marker/mechanism
CTD PMID:11179006 RGD:68858 NCBI chr10:89,897,087...89,900,131
Ensembl chr10:89,897,087...89,900,131
JBrowse link
sclerosteosis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sost sclerostin ISO ClinVar Annotator: match by term: Sclerosteosis 1 ClinVar
OMIM
PMID:9712543, PMID:11179006, PMID:11181578, PMID:28492532 NCBI chr10:89,897,087...89,900,131
Ensembl chr10:89,897,087...89,900,131
JBrowse link
sclerosteosis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lrp4 LDL receptor related protein 4 ISO ClinVar Annotator: match by term: Sclerosteosis 2
ClinVar Annotator: match by OMIM:614305
OMIM
ClinVar
PMID:7891385, PMID:11385236, PMID:21471202, PMID:24234652, PMID:28492532 NCBI chr 3:80,362,643...80,416,684
Ensembl chr 3:80,362,858...80,416,679
JBrowse link
Singleton Merten Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ifih1 interferon induced with helicase C domain 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:48,557,696...48,604,097
Ensembl chr 3:48,557,696...48,604,097
JBrowse link
Singleton-Merten Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ifih1 interferon induced with helicase C domain 1 ISO ClinVar Annotator: match by term: Singleton-Merten syndrome 1 OMIM
ClinVar
PMID:21070929, PMID:24686847, PMID:24995871, PMID:25620204, PMID:25741868, PMID:28319323, PMID:28492532, PMID:29270977, PMID:30311386, PMID:30707351 NCBI chr 3:48,557,696...48,604,097
Ensembl chr 3:48,557,696...48,604,097
JBrowse link
Singleton-Merten Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ddx58 DEXD/H-box helicase 58 ISO ClinVar Annotator: match by term: Singleton-Merten syndrome 2 ClinVar
OMIM
PMID:25620203 NCBI chr 5:56,486,584...56,536,898
Ensembl chr 5:56,500,734...56,536,772
JBrowse link
SOST-related sclerosing bone dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sost sclerostin ISO OMIM NCBI chr10:89,897,087...89,900,131
Ensembl chr10:89,897,087...89,900,131
JBrowse link
Stuve-Wiedemann Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hspg2 heparan sulfate proteoglycan 2 ISO ClinVar Annotator: match by term: Stuve-Wiedemann syndrome ClinVar PMID:25741868 NCBI chr 5:155,812,096...155,913,751 JBrowse link
G Il6st interleukin 6 signal transducer ISO ClinVar Annotator: match by term: Stuve-Wiedemann syndrome ClinVar NCBI chr 2:44,279,199...44,319,427
Ensembl chr 2:44,289,393...44,314,944
JBrowse link
G Lifr LIF receptor subunit alpha ISO ClinVar Annotator: match by term: Stuve-Wiedemann/Schwartz-Jampel type 2 syndrome
ClinVar Annotator: match by term: Stuve-Wiedemann syndrome
ClinVar Annotator: match by OMIM:601559
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:14740318, PMID:19603067, PMID:24033266, PMID:24988918, PMID:25326635, PMID:25540807, PMID:25741868, PMID:26752647, PMID:28334964, PMID:28492532 NCBI chr 2:56,424,910...56,489,346
Ensembl chr 2:56,426,367...56,489,415
JBrowse link
Vitamin D Hydroxylation-Deficient Rickets, Type 1A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyp27b1 cytochrome P450, family 27, subfamily b, polypeptide 1 ISO ClinVar Annotator: match by term: Vitamin D-dependent rickets type 1A
ClinVar Annotator: match by term: VITAMIN D-DEPENDENT RICKETS, TYPE 1A
ClinVar Annotator: match by OMIM:264700
OMIM
ClinVar
PMID:9415400, PMID:9486994, PMID:9837822, PMID:10518789, PMID:10566658, PMID:11737215, PMID:12050193, PMID:21700898, PMID:22190362, PMID:22443290, PMID:23423976, PMID:23444327, PMID:23483640, PMID:25284246, PMID:25741868, PMID:28492532 NCBI chr 7:70,333,150...70,340,006
Ensembl chr 7:70,335,061...70,340,005
JBrowse link
G Cyp2r1 cytochrome P450, family 2, subfamily r, polypeptide 1 ISO ClinVar Annotator: match by term: VITAMIN D DEPENDENCY, TYPE 1 ClinVar PMID:8201479, PMID:10969262, PMID:15128933, PMID:16549493, PMID:24033266, PMID:25942481, PMID:28548312 NCBI chr 1:184,060,521...184,106,604
Ensembl chr 1:184,093,920...184,106,200
JBrowse link
Vitamin D Hydroxylation-Deficient Rickets, Type 1B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyp2r1 cytochrome P450, family 2, subfamily r, polypeptide 1 ISO ClinVar Annotator: match by term: Vitamin d hydroxylation-deficient rickets, type 1b OMIM
ClinVar
PMID:8201479, PMID:10969262, PMID:15128933, PMID:16549493, PMID:22855339, PMID:24033266, PMID:25942481, PMID:28548312 NCBI chr 1:184,060,521...184,106,604
Ensembl chr 1:184,093,920...184,106,200
JBrowse link
Vitamin D-Dependent Rickets term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyp27b1 cytochrome P450, family 27, subfamily b, polypeptide 1 ISO ClinVar Annotator: match by term: Vitamin D-Dependent Rickets ClinVar NCBI chr 7:70,333,150...70,340,006
Ensembl chr 7:70,335,061...70,340,005
JBrowse link
G Vdr vitamin D receptor ISO ClinVar Annotator: match by term: Vitamin D-Dependent Rickets ClinVar PMID:28492532 NCBI chr 7:139,344,452...139,394,138
Ensembl chr 7:139,342,063...139,394,166
JBrowse link
Vitamin D-Dependent Rickets, Type 2A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Phyh phytanoyl-CoA 2-hydroxylase ISO ClinVar Annotator: match by term: VITAMIN D-RESISTANT RICKETS WITH END-ORGAN UNRESPONSIVENESS TO 1,25-DIHYDROXYCHOLECALCIFEROL ClinVar PMID:10767344, PMID:14974078, PMID:16186124, PMID:25741868, PMID:27229527, PMID:28492532 NCBI chr17:77,287,580...77,304,482
Ensembl chr17:77,287,188...77,304,530
JBrowse link
G Vdr vitamin D receptor treatment ISO ClinVar Annotator: match by term: VITAMIN D-RESISTANT RICKETS WITH END-ORGAN UNRESPONSIVENESS TO 1,25-DIHYDROXYCHOLECALCIFEROL
DNA:missense mutations:cds:
DNA:missense mutation:cds:P.K45E(human)
DNA:missense mutations,nonsense mutation:exon,splice junction:
ClinVar Annotator: match by OMIM:277440
OMIM
ClinVar
PMID:1652893, PMID:2174914, PMID:2177843, PMID:2557627, PMID:2558018, PMID:2849209, PMID:3024987, PMID:8392085, PMID:8675579, PMID:8862631, PMID:8961271, PMID:9005998, PMID:9360557, PMID:9495519, PMID:10707958, PMID:11564167, PMID:17130574, PMID:17371163, PMID:17970811, PMID:18159135, PMID:18279374, PMID:18593774, PMID:19682379, PMID:20200114, PMID:21168462, PMID:21931507, PMID:22992668, PMID:23180655, PMID:24033266, PMID:24073221, PMID:25741868, PMID:26177022, PMID:26198224, PMID:26590811, PMID:26631034, PMID:26911666, PMID:27164139, PMID:27607899, PMID:27778467, PMID:28492532, PMID:24693968, PMID:24859502, PMID:25201466, PMID:24246681, PMID:9275211 RGD:13432060, RGD:13210792, RGD:13210780, RGD:13210778, RGD:8158074 NCBI chr 7:139,344,452...139,394,138
Ensembl chr 7:139,342,063...139,394,166
JBrowse link
Warburg-Cinotti Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ddr2 discoidin domain receptor tyrosine kinase 2 ISO ClinVar Annotator: match by term: Warburg-Cinotti syndrome ClinVar
OMIM
PMID:17103436, PMID:23637089, PMID:30449416 NCBI chr13:88,311,639...88,436,561
Ensembl chr13:88,317,145...88,436,789
JBrowse link
Winchester syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mmp14 matrix metallopeptidase 14 ISO ClinVar Annotator: match by term: Winchester syndrome ClinVar
OMIM
PMID:4238825, PMID:22922033, PMID:25741868 NCBI chr15:33,074,441...33,083,666
Ensembl chr15:33,074,441...33,083,655
JBrowse link
Worth syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lrp5 LDL receptor related protein 5 ISO ClinVar Annotator: match by term: Worth disease
ClinVar Annotator: match by OMIM:607636
OMIM
ClinVar
PMID:10434540, PMID:12015390, PMID:12579474 NCBI chr 1:218,816,833...218,920,147
Ensembl chr 1:218,816,841...218,920,094
JBrowse link
X-linked dominant hypophosphatemic rickets term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bglap bone gamma-carboxyglutamate protein ISO mRNA:increased expression:long bone RGD PMID:22573557 RGD:7207229 NCBI chr 2:187,741,770...187,748,445
Ensembl chr 2:187,741,770...187,742,747
JBrowse link
G Fam20c FAM20C, golgi associated secretory pathway kinase ISO mRNA:increased expression:long bone, osteoblast, osteocyte (mouse) RGD PMID:24710520 RGD:11560488 NCBI chr12:17,913,771...17,972,733
Ensembl chr12:17,913,767...17,972,737
JBrowse link
G Phex phosphate regulating endopeptidase homolog, X-linked ISO ClinVar Annotator: match by term: Familial X-linked hypophosphatemic vitamin D refractory rickets
ClinVar Annotator: match by term: Hypophosphatemic Rickets, X-Linked Dominant
DNA:mutation:exon:p.K496X(mouse)
DNA:deletions:3'UTR,promoter,exons:
DNA:mutations:cds,splice junction:
DNA:deletion,mutations:exon,splice junction:
ClinVar Annotator: match by OMIM:307800
OMIM
ClinVar
PMID:188828, PMID:3394683, PMID:7550339, PMID:9097956, PMID:9106524, PMID:9199930, PMID:9768646, PMID:9768674, PMID:10439971, PMID:10737991, PMID:11004247, PMID:11468271, PMID:11502821, PMID:11502829, PMID:12727977, PMID:14564066, PMID:14564077, PMID:16055933, PMID:16303832, PMID:16636593, PMID:18162710, PMID:18252791, PMID:18625346, PMID:19219621, PMID:21050253, PMID:21902834, PMID:21994957, PMID:22261628, PMID:22695891, PMID:23079138, PMID:23466123, PMID:24033266, PMID:24684036, PMID:24756041, PMID:24857004, PMID:24926462, PMID:25525159, PMID:25741868, PMID:25839938, PMID:26040324, PMID:26051471, PMID:26377240, PMID:26467025, PMID:27840894, PMID:28492532, PMID:28506344, PMID:29393334, PMID:29460029, PMID:29505567, PMID:29858904, PMID:30298486, PMID:30607568, PMID:30682568, PMID:30920082, PMID:22573557, PMID:9063736, PMID:9106524, PMID:7550339 RGD:7207229, RGD:11556248, RGD:11556247, RGD:11556246 NCBI chr  X:40,460,047...40,717,982
Ensembl chr  X:40,460,047...40,717,982
JBrowse link
X-linked recessive hypophosphatemic rickets term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clcn5 chloride voltage-gated channel 5 ISO ClinVar Annotator: match by term: X-linked recessive hypophosphatemic rickets
ClinVar Annotator: match by term: Hypophosphatemic rickets, X-linked recessive
ClinVar
OMIM
PMID:7915957, PMID:8559248, PMID:9187673, PMID:9734595, PMID:15086899, PMID:16822791, PMID:19546591, PMID:24081861, PMID:25741868 NCBI chr  X:16,170,585...16,196,691
Ensembl chr  X:16,050,780...16,196,789
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16035
    disease of anatomical entity 15289
      musculoskeletal system disease 5761
        bone disease 3536
          bone remodeling disease 430
            bone resorption disease + 354
            fibrous dysplasia 0
            hyperostosis + 43
            osteomalacia + 2
            osteosclerosis + 44
            rickets + 18
Path 2
Term Annotations click to browse term
  disease 16035
    disease of anatomical entity 15289
      musculoskeletal system disease 5761
        connective tissue disease 4105
          bone disease 3536
            bone remodeling disease 430
              bone resorption disease + 354
              fibrous dysplasia 0
              hyperostosis + 43
              osteomalacia + 2
              osteosclerosis + 44
              rickets + 18
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.