bone remodeling disease - Ontology Report - Rat Genome Database

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RGD DISEASE ONTOLOGY - ANNOTATIONS

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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	go back to main search page
Accession:	DOID:0080005	browse the term
Definition:	A bone disease that results_in formation or resorption abnormalities located_in bone. (DO)

show annotations for term's descendants Sort by:
Rat (495) Mouse (296) Human (10771) Chinchilla (281) Bonobo (301) Dog (292) Squirrel (284) Pig (291) Green Monkey (291) Naked Mole-rat (279) All
Genes (304) QTL (185) Strains (6)

bone remodeling disease

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

isocitrate dehydrogenase (NADP(+)) 2

NCBI chr 1:134,038,644...134,057,969
Ensembl chr 1:134,029,772...134,058,025

Acro-Osteolysis

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

SMAD family member 4

associated with Juvenile Polyposis Syndrome;DNA:nonsense mutation:exon:p.Y412X (1236C>G) (human)

RGD

NCBI chr18:67,243,742...67,274,438
Ensembl chr18:67,243,742...67,274,438

G

zinc metallopeptidase STE24

CTD Direct Evidence: marker/mechanism

PMID:12913070 PMID:17152860

NCBI chr 5:134,627,218...134,660,360
Ensembl chr 5:134,627,229...134,660,110

Acroosteolysis Dominant Type

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

notch receptor 2

ClinVar Annotator: match by term: Acroosteolysis dominant type

PMID:24728327 PMID:25741868 PMID:28492532 PMID:28566479 PMID:28776642 More...

NCBI chr 2:185,610,594...185,744,088
Ensembl chr 2:185,610,589...185,744,088

Alveolar Bone Loss

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

angiotensin converting enzyme 2

treatment

associated with periodontal disease

RGD

NCBI chr X:30,293,597...30,340,961
Ensembl chr X:30,293,589...30,340,977

G

acid phosphatase 5, tartrate resistant

treatment

associated with hypertension, periodontal disease

RGD

NCBI chr 8:20,663,984...20,670,604
Ensembl chr 8:20,663,985...20,667,929

G

angiotensin II receptor, type 1a

treatment

associated with periodontal disease

RGD

NCBI chr17:34,173,446...34,226,892
Ensembl chr17:34,174,429...34,226,946

G

angiotensin II receptor, type 2

treatment

associated with hypertension, periodontal disease

RGD

NCBI chr X:112,119,876...112,124,060
Ensembl chr X:112,120,228...112,124,057

G

alkaline phosphatase, biomineralization associated

treatment

CTD Direct Evidence: marker/mechanism
associated with hypertension, periodontal disease

CTD
RGD

PMID:20630305 PMID:33364953

NCBI chr 5:149,951,397...150,006,424
Ensembl chr 5:149,951,409...150,006,446

G

C-C motif chemokine receptor 2

associated with Periodontitis;

RGD

NCBI chr 8:123,734,465...123,742,483
Ensembl chr 8:123,734,430...123,742,100

G

cathepsin K

treatment

associated with hypertension, periodontal disease

RGD

NCBI chr 2:183,058,586...183,069,551
Ensembl chr 2:183,058,569...183,069,550

G

C-X-C motif chemokine ligand 3

treatment

associated with hypertension, periodontal disease

RGD

NCBI chr14:17,287,727...17,289,451
Ensembl chr14:17,270,146...17,289,511

G

interleukin 10

treatment

associated with Diabetes Mellitus, Experimental
associated with periodontal disease

RGD

PMID:26270535 PMID:33364953

RGD:11049527, RGD:329956421

NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313

G

interleukin 1 beta

treatment

associated with periodontal disease

RGD

NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415

G

interleukin 6

treatment

associated with periodontal disease

RGD

NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178

G

integrin subunit alpha V

treatment

associated with periodontal disease

RGD

NCBI chr 3:68,838,514...68,926,653
Ensembl chr 3:68,838,189...68,926,639

G

MAS1 proto-oncogene, G protein-coupled receptor

treatment

associated with periodontal disease

RGD

NCBI chr 1:47,879,956...47,911,500
Ensembl chr 1:47,880,309...47,911,709

G

matrix metallopeptidase 2

treatment

associated with periodontal disease

RGD

NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870

G

matrix metallopeptidase 9

treatment

associated with periodontal disease

RGD

NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120

G

osteoclast associated Ig-like receptor

treatment

associated with hypertension, periodontal disease

RGD

NCBI chr 1:65,607,214...65,615,395
Ensembl chr 1:65,607,410...65,613,758

G

poly (ADP-ribose) polymerase 1

RGD

NCBI chr13:92,307,593...92,339,406
Ensembl chr13:92,307,586...92,339,404

G

peroxisome proliferator-activated receptor gamma

treatment

associated with hypertension, periodontal disease

RGD

NCBI chr 4:148,423,102...148,548,471
Ensembl chr 4:148,423,194...148,548,468

G

tumor necrosis factor

treatment

associated with Diabetes Mellitus, Experimental
associated with periodontal disease

RGD

PMID:26270535 PMID:33364953

RGD:11049527, RGD:329956421

NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629

G

TNF receptor superfamily member 11A

treatment

associated with periodontal disease

RGD

NCBI chr13:21,928,370...21,986,719
Ensembl chr13:21,928,408...21,986,695

G

TNF receptor superfamily member 11B

treatment

associated with periodontal disease

RGD

NCBI chr 7:85,566,520...85,594,526
Ensembl chr 7:85,566,520...85,594,538

G

TNF superfamily member 11

treatment

CTD Direct Evidence: marker/mechanism
associated with periodontal disease

CTD
RGD

PMID:19249596 PMID:33364953

NCBI chr15:53,673,850...53,705,325
Ensembl chr15:53,673,877...53,705,445

G

vitronectin

treatment

associated with periodontal disease

RGD

NCBI chr10:63,394,732...63,397,812
Ensembl chr10:63,394,719...63,397,810

autosomal dominant craniodiaphyseal dysplasia

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

sclerostin

ClinVar Annotator: match by term: Craniodiaphyseal dysplasia, autosomal dominant
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:17853455 PMID:21221996 PMID:25741868

NCBI chr10:86,912,517...86,915,561
Ensembl chr10:86,911,517...86,915,561

autosomal dominant craniometaphyseal dysplasia

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ANKH inorganic pyrophosphate transport regulator

ClinVar Annotator: match by term: Craniometadiaphyseal dysplasia wormian bone type | ClinVar Annotator: match by term: Craniometaphyseal dysplasia, autosomal dominant
CTD Direct Evidence: marker/mechanism

ClinVar
CTD
OMIM
RGD

PMID:2712793 PMID:11326272 PMID:11326338 PMID:19449425 PMID:20358596 More...

NCBI chr 2:78,153,027...78,280,181
Ensembl chr 2:78,153,026...78,280,187

G

OTU deubiquitinase with linear linkage specificity

ClinVar Annotator: match by term: Craniometadiaphyseal dysplasia wormian bone type | ClinVar Annotator: match by term: Craniometaphyseal dysplasia, autosomal dominant

PMID:2712793 PMID:11326272 PMID:11326338 PMID:19449425 PMID:20358596 More...

NCBI chr 2:78,290,437...78,316,633
Ensembl chr 2:78,290,959...78,316,422

autosomal dominant hypophosphatemic rickets

term browser

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Object Name

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PubMed Reference(s)

RGD Reference(s)

Position

G

fibroblast growth factor 23

DNA:missense mutations:exon:p.R176Q (527G>A), p.R179W (535C>T), p.R179Q (536G>A) (human)
OMIM:193100
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Autosomal dominant hypophosphatemic rickets | ClinVar Annotator: match by term: Hypophosphatemic Rickets, Dominant | ClinVar Annotator: match by term: VITAMIN D-RESISTANT RICKETS, AUTOSOMAL DOMINANT
DNA:missense mutation:cds:526C>T,p.R176W (human)

MouseDO
CTD
ClinVar
OMIM
RGD

PMID:1353055 PMID:5173181 PMID:9024275 PMID:11062477 PMID:11409890 More...

RGD:1598933, RGD:10044239

NCBI chr 4:159,914,267...159,923,821
Ensembl chr 4:159,914,272...159,923,821

G

phosphate regulating endopeptidase X-linked

ClinVar Annotator: match by term: Autosomal dominant hypophosphatemic rickets

PMID:9199930 PMID:9768674 PMID:10439971 PMID:14564066 PMID:14564077 More...

NCBI chr X:37,607,553...37,856,183
Ensembl chr X:37,610,760...37,854,469

autosomal dominant osteopetrosis 1

term browser

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Object Name

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Source

PubMed Reference(s)

RGD Reference(s)

Position

G

chloride voltage-gated channel Kb

ClinVar Annotator: match by term: Autosomal dominant osteopetrosis 1

NCBI chr 5:153,710,086...153,733,162
Ensembl chr 5:153,710,094...153,732,153

G

LDL receptor related protein 5

ClinVar Annotator: match by term: Autosomal dominant osteopetrosis 1 | ClinVar Annotator: match by term: OSTEOPETROSIS, AUTOSOMAL DOMINANT, TYPE I
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:1002767 PMID:9536098 PMID:10434540 PMID:11701785 PMID:11719191 More...

NCBI chr 1:200,814,247...200,917,581
Ensembl chr 1:200,814,250...200,917,581

autosomal dominant osteopetrosis 2

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

chloride voltage-gated channel 7

ClinVar Annotator: match by term: ALBERS-SCHONBERG DISEASE, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Autosomal dominant osteopetrosis 2
OMIM:166600

OMIM
ClinVar
MouseDO

PMID:1516225 PMID:9536098 PMID:11468688 PMID:11741829 PMID:14584882 More...

NCBI chr10:14,151,758...14,177,130
Ensembl chr10:14,151,758...14,177,130

Autosomal Dominant Osteopetrosis 3

term browser

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Evidence

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PubMed Reference(s)

RGD Reference(s)

Position

G

pleckstrin homology and RUN domain containing M1

ClinVar Annotator: match by term: Osteopetrosis, autosomal dominant 3

PMID:17997709 PMID:25741868

NCBI chr10:88,313,837...88,366,182
Ensembl chr10:88,314,651...88,362,412

autosomal recessive craniometaphyseal dysplasia

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

gap junction protein, alpha 1

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Craniometaphyseal dysplasia, autosomal recessive

OMIM
CTD
ClinVar

PMID:11146471 PMID:23951358 PMID:25741868 PMID:28492532

NCBI chr20:35,756,007...35,768,481
Ensembl chr20:35,755,991...35,768,582

autosomal recessive hypophosphatemic rickets

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

dentin matrix acidic phosphoprotein 1

ClinVar Annotator: match by term: Hypophosphatemic Rickets, Recessive
OMIM:241520 | OMIM:613312

ClinVar
MouseDO

NCBI chr14:5,528,441...5,542,078
Ensembl chr14:5,528,431...5,539,323

G

ectonucleotide pyrophosphatase/phosphodiesterase 1

ClinVar Annotator: match by term: Hypophosphatemic Rickets, Recessive

PMID:9662402 PMID:10453738 PMID:11771660 PMID:16025115 PMID:16609882 More...

NCBI chr 1:20,698,746...20,763,741
Ensembl chr 1:20,698,764...20,763,715

autosomal recessive osteopetrosis 1

term browser

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Object Name

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Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

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G

coiled-coil domain containing 154

OMIM:259700

NCBI chr10:14,177,271...14,187,378
Ensembl chr10:14,177,278...14,187,253

G

pleckstrin homology and RUN domain containing M1

ClinVar Annotator: match by term: Autosomal recessive osteopetrosis 1

PMID:35342016 PMID:36195244

NCBI chr10:88,313,837...88,366,182
Ensembl chr10:88,314,651...88,362,412

G

T-cell immune regulator 1, ATPase H+ transporting V0 subunit A3

DNA:deletions, snps:exons:multiple (human)
ClinVar Annotator: match by term: Autosomal recessive osteopetrosis 1 | ClinVar Annotator: match by term: Marble bones autosomal recessive | ClinVar Annotator: match by term: TCIRG1-related condition
OMIM:259700
CTD Direct Evidence: marker/mechanism

ClinVar
MouseDO
CTD
OMIM
RGD

PMID:9506970 PMID:9536098 PMID:10888887 PMID:10942435 PMID:11532986 More...

NCBI chr 1:201,127,034...201,138,787
Ensembl chr 1:201,127,034...201,138,742

autosomal recessive osteopetrosis 2

term browser

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Object Name

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Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

TNF superfamily member 11

OMIM:259710
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Autosomal recessive osteopetrosis 2 | ClinVar Annotator: match by term: Osteopetrosis osteoclast-poor

OMIM
MouseDO
CTD
ClinVar

PMID:17632511 PMID:20499338 PMID:21541994 PMID:23762088 PMID:25741868 More...

NCBI chr15:53,673,850...53,705,325
Ensembl chr15:53,673,877...53,705,445

autosomal recessive osteopetrosis 3

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

carbonic anhydrase 2

ClinVar Annotator: match by term: Osteopetrosis with renal tubular acidosis
OMIM:259730
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
MouseDO
CTD

PMID:1301935 PMID:1542674 PMID:1928091 PMID:4624444 PMID:5041390 More...

NCBI chr 2:86,741,625...86,756,766
Ensembl chr 2:86,741,626...86,756,818

autosomal recessive osteopetrosis 4

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

chloride voltage-gated channel 7

ClinVar Annotator: match by term: Autosomal recessive osteopetrosis 4 | ClinVar Annotator: match by term: Osteopetrosis infantile malignant 2
OMIM:611490
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
MouseDO
CTD

PMID:1516225 PMID:11207362 PMID:11468688 PMID:11741829 PMID:14584882 More...

NCBI chr10:14,151,758...14,177,130
Ensembl chr10:14,151,758...14,177,130

autosomal recessive osteopetrosis 5

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

osteoclastogenesis associated transmembrane protein 1

OMIM:259720
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Autosomal recessive osteopetrosis 5 | ClinVar Annotator: match by term: Osteopetrosis infantile malignant 3

OMIM
MouseDO
CTD
ClinVar

PMID:12627228 PMID:16813530 PMID:25741868 PMID:28492532 PMID:28612835

NCBI chr20:46,071,657...46,187,049
Ensembl chr20:46,153,075...46,187,023

autosomal recessive osteopetrosis 6

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

pleckstrin homology and RUN domain containing M1

OMIM:611497
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Autosomal recessive osteopetrosis 6

OMIM
MouseDO
CTD
ClinVar

PMID:17404618 PMID:25741868

NCBI chr10:88,313,837...88,366,182
Ensembl chr10:88,314,651...88,362,412

autosomal recessive osteopetrosis 7

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

TNF receptor superfamily member 11A

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Autosomal recessive osteoclast-poor osteopetrosis with hypogammaglobulinemia | ClinVar Annotator: match by term: Autosomal recessive osteopetrosis 7

OMIM
CTD
ClinVar

PMID:9536098 PMID:15231021 PMID:17576681 PMID:18606301 PMID:19940926 More...

NCBI chr13:21,928,370...21,986,719
Ensembl chr13:21,928,408...21,986,695

autosomal recessive osteopetrosis 8

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

sorting nexin 10

ClinVar Annotator: match by term: Autosomal recessive osteopetrosis 8
OMIM:615085
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
MouseDO
CTD

PMID:22499339 PMID:23123320 PMID:23280965 PMID:25212774 PMID:25590979 More...

NCBI chr 4:80,612,648...80,677,005
Ensembl chr 4:80,612,669...80,676,996

Autosomal Recessive Osteopetrosis 9

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

solute carrier family 4 member 2

ClinVar Annotator: match by term: Osteopetrosis, autosomal recessive 9

PMID:25741868 PMID:34668226

NCBI chr 4:10,736,419...10,754,407
Ensembl chr 4:10,736,425...10,752,965

bone resorption disease

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

aryl hydrocarbon receptor

CTD Direct Evidence: marker/mechanism

NCBI chr 6:52,234,089...52,271,568
Ensembl chr 6:52,234,089...52,271,568

G

bone morphogenetic protein 7

CTD Direct Evidence: therapeutic

NCBI chr 3:161,639,915...161,716,938
Ensembl chr 3:161,516,462...161,716,788

G

collagen type II alpha 1 chain

CTD Direct Evidence: marker/mechanism

NCBI chr 7:129,098,489...129,127,560
Ensembl chr 7:129,098,786...129,127,546

G

C-X-C motif chemokine ligand 2

CTD Direct Evidence: therapeutic

NCBI chr14:17,181,030...17,183,075
Ensembl chr14:17,181,062...17,183,075

G

cytochrome P450, family 19, subfamily a, polypeptide 1

CTD Direct Evidence: marker/mechanism

NCBI chr 8:54,552,978...54,580,375
Ensembl chr 8:54,553,165...54,580,758

G

ghrelin and obestatin prepropeptide

CTD Direct Evidence: therapeutic

NCBI chr 4:146,865,712...146,869,621
Ensembl chr 4:146,865,712...146,869,621

G

parathyroid hormone

CTD Direct Evidence: marker/mechanism

NCBI chr 1:167,508,121...167,511,530
Ensembl chr 1:167,508,598...167,511,530

G

parathyroid hormone-like hormone

CTD Direct Evidence: marker/mechanism

NCBI chr 4:180,188,792...180,199,847
Ensembl chr 4:180,188,792...180,199,847

G

TNF receptor superfamily member 11B

CTD Direct Evidence: marker/mechanism|therapeutic

PMID:15845617 PMID:18496637 PMID:23333834

NCBI chr 7:85,566,520...85,594,526
Ensembl chr 7:85,566,520...85,594,538

G

TNF superfamily member 11

CTD Direct Evidence: marker/mechanism

NCBI chr15:53,673,850...53,705,325
Ensembl chr15:53,673,877...53,705,445

BRAIN ABNORMALITIES, NEURODEGENERATION, AND DYSOSTEOSCLEROSIS

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

colony stimulating factor 1 receptor

ClinVar Annotator: match by term: Brain abnormalities, neurodegeneration, and dysosteosclerosis

PMID:8614507 PMID:22503135 PMID:23408870 PMID:24120500 PMID:24145216 More...

NCBI chr18:54,546,673...54,590,418
Ensembl chr18:54,546,659...54,590,415

Buschke-Ollendorff syndrome

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

elastin

RGD

NCBI chr12:21,968,544...22,011,929
Ensembl chr12:21,968,544...22,011,928

G

LEM domain containing 3

no_association

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Dermatofibrosis lenticularis disseminata | ClinVar Annotator: match by term: Dermatofibrosis lenticularis disseminata, isolated | ClinVar Annotator: match by term: LEMD3-related condition | ClinVar Annotator: match by term: Melorheostosis with osteopoikilosis | ClinVar Annotator: match by term: OSTEOPOIKILOSIS WITH OR WITHOUT MELORHEOSTOSIS
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)

OMIM
CTD
ClinVar
RGD

PMID:9295073 PMID:12749062 PMID:15489854 PMID:16470551 PMID:17087626 More...

RGD:11553844, RGD:11553843, RGD:11553842, RGD:11553840

NCBI chr 7:56,415,053...56,499,047
Ensembl chr 7:56,305,448...56,502,474

Caffey disease

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

alpha 1,4-galactosyltransferase

ClinVar Annotator: match by term: Infantile cortical hyperostosis

PMID:20971946 PMID:28492532

NCBI chr 7:114,368,525...114,392,872
Ensembl chr 7:114,368,276...114,396,071

G

collagen type I alpha 1 chain

DNA:mutation:exon:3040C>T (human)
ClinVar Annotator: match by term: Caffey Disease | ClinVar Annotator: match by term: Infantile cortical hyperostosis
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:exon:c.3040C>T(p.R836C)(human)

ClinVar
CTD
OMIM
RGD

PMID:2037280 PMID:2542316 PMID:2794057 PMID:7691343 PMID:7695699 More...

RGD:5688296, RGD:11667069

NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624

Camurati-Engelmann disease

term browser

Symbol

Object Name

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Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

LDL receptor related protein 5

ClinVar Annotator: match by term: Diaphyseal dysplasia

NCBI chr 1:200,814,247...200,917,581
Ensembl chr 1:200,814,250...200,917,581

G

melanocyte inducing transcription factor

OMIM:131300 | OMIM:606631

NCBI chr 4:130,409,020...130,621,145
Ensembl chr 4:130,409,217...130,621,145

G

transforming growth factor, beta 1

ClinVar Annotator: match by term: Diaphyseal dysplasia
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:10973241 PMID:11062463 PMID:11278244 PMID:11810278 PMID:12843182 More...

NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847

chondrodysplasia Blomstrand type

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

myosin light chain 3

ClinVar Annotator: match by term: Chondrodysplasia Blomstrand type

NCBI chr 8:110,738,669...110,744,814
Ensembl chr 8:110,738,661...110,744,816

G

parathyroid hormone 1 receptor

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Blomstrand lethal osteochondrodysplasia | ClinVar Annotator: match by term: Chondrodysplasia Blomstrand type

OMIM
CTD
ClinVar

PMID:3975110 PMID:9268097 PMID:9536098 PMID:9649554 PMID:9745456 More...

NCBI chr 8:110,693,910...110,725,458
Ensembl chr 8:110,697,485...110,719,729

COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

melanocyte inducing transcription factor

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness

CTD
OMIM
ClinVar

PMID:8659547 PMID:16199547 PMID:20127975 PMID:25741868 PMID:27889061 More...

NCBI chr 4:130,409,020...130,621,145
Ensembl chr 4:130,409,217...130,621,145

CRANIOMETADIAPHYSEAL OSTEOSCLEROSIS WITH HIP DYSPLASIA

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

axin 1

ClinVar Annotator: match by term: Craniometadiaphyseal osteosclerosis with hip dysplasia

PMID:25741868 PMID:37582359

NCBI chr10:15,163,477...15,215,615
Ensembl chr10:15,163,684...15,215,615

craniometaphyseal dysplasia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ANKH inorganic pyrophosphate transport regulator

OMIM:122860 | OMIM:123000 | OMIM:218300 | OMIM:218400 | OMIM:614099 | OMIM:614378

NCBI chr 2:78,153,027...78,280,181
Ensembl chr 2:78,153,026...78,280,187

craniotubular dysplasia Ikegawa type

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

transmembrane protein 53

ClinVar Annotator: match by term: Craniotubular dysplasia, Ikegawa type | ClinVar Annotator: match by term: TMEM53-related craniotubular dysplasia
OMIM:619727

ClinVar
MouseDO
OMIM

PMID:25741868 PMID:33824347

NCBI chr 5:130,721,780...130,737,692
Ensembl chr 5:130,721,659...130,737,692

diffuse idiopathic skeletal hyperostosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

solute carrier family 29 member 1

OMIM:106400

NCBI chr 9:15,399,661...15,414,203
Ensembl chr 9:15,399,612...15,414,203

Dysosteosclerosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

solute carrier family 29 member 3

ClinVar Annotator: match by term: Dysosteosclerosis

PMID:25741868 PMID:28492532 PMID:33837634

NCBI chr20:28,645,265...28,685,388
Ensembl chr20:28,647,391...28,685,388

ectodermal dysplasia and immunodeficiency 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

glucose-6-phosphate dehydrogenase

ClinVar Annotator: match by term: Hyper-IgM immunodeficiency, X-linked, with hypohidrotic ectodermal dysplasia

NCBI chr X:152,201,081...152,220,863
Ensembl chr X:152,201,098...152,220,801

G

inhibitor of nuclear factor kappa B kinase regulatory subunit gamma

ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 1 | ClinVar Annotator: match by term: Hyper-IgM immunodeficiency, X-linked, with hypohidrotic ectodermal dysplasia
CTD Direct Evidence: marker/mechanism
DNA:mutation:splicing site:

OMIM
ClinVar
CTD
RGD

PMID:11242109 PMID:11590134 PMID:15229184 PMID:15833888 PMID:16532398 More...

NCBI chr X:152,216,485...152,241,476
Ensembl chr X:152,216,596...152,239,499

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

cytochrome c oxidase subunit 4i2

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis
DNA:mutation:cds:c.412G>A (p.E138K)(human)

OMIM
CTD
ClinVar
RGD

PMID:19268275 PMID:25741868 PMID:28492532 PMID:19268275

NCBI chr 3:141,228,443...141,239,337
Ensembl chr 3:141,228,443...141,239,331

exostosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

GLI family zinc finger 2

ClinVar Annotator: match by term: Exostosis

NCBI chr13:29,946,882...30,163,589
Ensembl chr13:29,946,809...30,163,574

familial expansile osteolysis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

TNF receptor superfamily member 11A

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Familial expansile osteolysis | ClinVar Annotator: match by term: Mccabe disease

OMIM
CTD
ClinVar

PMID:7911698 PMID:10615125 PMID:12362049 PMID:12568416 PMID:17447113 More...

NCBI chr13:21,928,370...21,986,719
Ensembl chr13:21,928,408...21,986,695

Familial Hypophosphatemic Rickets

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

chloride voltage-gated channel 5

CTD Direct Evidence: marker/mechanism

NCBI chr X:15,185,380...15,339,977
Ensembl chr X:15,185,451...15,334,264

G

phosphate regulating endopeptidase X-linked

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Familial Hypophosphatemic Rickets

PMID:3414685 PMID:9097956 PMID:9199930 PMID:9430241 PMID:11414762 More...

NCBI chr X:37,607,553...37,856,183
Ensembl chr X:37,610,760...37,854,469

G

phytanoyl-CoA 2-hydroxylase

ClinVar Annotator: match by term: RICKETS, HEREDITARY VITAMIN D-RESISTANT

PMID:10767344 PMID:14974078 PMID:16186124 PMID:25741868 PMID:27229527 More...

NCBI chr17:73,329,461...73,346,359
Ensembl chr17:73,329,082...73,346,409

G

serine protease 1

ClinVar Annotator: match by term: RICKETS, HEREDITARY VITAMIN D-RESISTANT

PMID:2539344 PMID:6023921 PMID:9322498 PMID:9557894 PMID:9633818 More...

NCBI chr 4:70,364,589...70,367,792
Ensembl chr 4:70,364,586...70,367,792

G

vitamin D receptor

ClinVar Annotator: match by term: Familial Hypophosphatemic Rickets | ClinVar Annotator: match by term: RICKETS, HEREDITARY VITAMIN D-RESISTANT

PMID:1652893 PMID:2174914 PMID:2177843 PMID:2557627 PMID:2558018 More...

NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677

Forney Robinson Pascoe Syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

mitogen activated protein kinase kinase kinase 7

CTD Direct Evidence: marker/mechanism

NCBI chr 5:46,356,973...46,415,597
Ensembl chr 5:46,357,931...46,415,597

Gorham's disease

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

LEM domain containing 3

ClinVar Annotator: match by term: Gorham-Stout disease

NCBI chr 7:56,415,053...56,499,047
Ensembl chr 7:56,305,448...56,502,474

Hajdu-Cheney syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ADAM metallopeptidase domain 30

ClinVar Annotator: match by term: Hajdu-Cheney syndrome

NCBI chr 2:185,752,183...185,755,623
Ensembl chr 2:185,752,072...185,755,599

G

hydroxyacid oxidase 2

ClinVar Annotator: match by term: Hajdu-Cheney syndrome

NCBI chr 2:186,200,137...186,232,997
Ensembl chr 2:186,200,504...186,224,425

G

3-hydroxy-3-methylglutaryl-CoA synthase 2

ClinVar Annotator: match by term: Hajdu-Cheney syndrome

NCBI chr 2:185,875,609...185,903,505
Ensembl chr 2:185,875,616...185,902,130

G

hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1

ClinVar Annotator: match by term: Hajdu-Cheney syndrome

NCBI chr 2:186,169,864...186,175,984
Ensembl chr 2:186,169,863...186,175,999

G

hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2

ClinVar Annotator: match by term: Hajdu-Cheney syndrome

NCBI chr 2:186,095,897...186,105,354
Ensembl chr 2:186,095,897...186,101,852

G

notch receptor 2

ClinVar Annotator: match by term: Hajdu-Cheney syndrome | ClinVar Annotator: match by term: NOTCH2-related condition | ClinVar Annotator: match by term: SERPENTINE FIBULA-POLYCYSTIC KIDNEY SYNDROME
OMIM:102500
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
MouseDO
CTD

PMID:8723560 PMID:8755249 PMID:9536098 PMID:16199547 PMID:16773578 More...

NCBI chr 2:185,610,594...185,744,088
Ensembl chr 2:185,610,589...185,744,088

G

phosphoglycerate dehydrogenase

ClinVar Annotator: match by term: Hajdu-Cheney syndrome

NCBI chr 2:185,906,962...185,936,054
Ensembl chr 2:185,906,966...185,935,944

G

regenerating family member 4

ClinVar Annotator: match by term: Hajdu-Cheney syndrome

NCBI chr 2:185,818,946...185,833,252
Ensembl chr 2:185,821,210...185,833,353

G

T-box transcription factor 15

ClinVar Annotator: match by term: Hajdu-Cheney syndrome

NCBI chr 2:186,576,650...186,687,748
Ensembl chr 2:186,576,676...186,687,663

G

tryptophanyl tRNA synthetase 2 (mitochondrial)

ClinVar Annotator: match by term: Hajdu-Cheney syndrome

NCBI chr 2:186,459,744...186,543,581
Ensembl chr 2:186,459,444...186,543,571

G

zinc finger protein 697

ClinVar Annotator: match by term: Hajdu-Cheney syndrome

NCBI chr 2:185,970,562...186,003,884
Ensembl chr 2:185,970,576...186,001,041

hereditary hypophosphatemic rickets with hypercalciuria

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

parathyroid hormone

protein:decreased expression:plasma (mouse)

RGD

NCBI chr 1:167,508,121...167,511,530
Ensembl chr 1:167,508,598...167,511,530

G

solute carrier family 34 member 1

OMIM:241530
DNA:deletions, snps:multiple (human)

PMID:19570882 PMID:16358215

RGD:7242924, RGD:7242925

NCBI chr17:9,218,876...9,233,852
Ensembl chr17:9,218,876...9,233,852

G

solute carrier family 34 member 3

ClinVar Annotator: match by term: Hypophosphatemic rickets with hypercalciuria | ClinVar Annotator: match by term: SLC34A3-related condition
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:2983203 PMID:9536098 PMID:16199547 PMID:16358214 PMID:16358215 More...

NCBI chr 3:8,044,294...8,050,034
Ensembl chr 3:8,044,296...8,049,970

hereditary multiple exostoses

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

alanine and arginine rich domain containing protein

ClinVar Annotator: match by term: Multiple congenital exostosis

NCBI chr 7:83,364,478...83,369,319
Ensembl chr 7:83,364,204...83,369,317

G

cellular communication network factor 3

ClinVar Annotator: match by term: Multiple congenital exostosis

NCBI chr 7:86,094,000...86,101,022
Ensembl chr 7:86,094,000...86,101,019

G

collectin subfamily member 10

ClinVar Annotator: match by term: Multiple congenital exostosis

NCBI chr 7:85,744,895...85,806,368
Ensembl chr 7:85,744,895...85,805,675

G

eukaryotic translation initiation factor 3, subunit H

ClinVar Annotator: match by term: Multiple congenital exostosis

NCBI chr 7:83,091,037...83,174,451
Ensembl chr 7:83,091,039...83,174,451

G

ectonucleotide pyrophosphatase/phosphodiesterase 2

ClinVar Annotator: match by term: Multiple congenital exostosis

NCBI chr 7:86,202,345...86,325,050
Ensembl chr 7:86,202,350...86,324,827

G

exostosin glycosyltransferase 1

DNA:frameshift mutations, missense mutation:cds:multiple (human)
ClinVar Annotator: match by term: Hereditary Multiple Osteochondromatosis | ClinVar Annotator: match by term: Multiple congenital exostosis
OMIM:133700 | OMIM:133701 | OMIM:600209
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)
CTD Direct Evidence: marker/mechanism

ClinVar
MouseDO
CTD
RGD

PMID:1816274 PMID:7550340 PMID:8981950 PMID:9150727 PMID:9326317 More...

RGD:1598916, RGD:13208236, RGD:13208236, RGD:13208234, RGD:13208233, RGD:13208229, RGD:13208228, RGD:13208227

NCBI chr 7:84,375,769...84,654,625
Ensembl chr 7:84,375,784...84,655,357

G

exostosin glycosyltransferase 2

CTD Direct Evidence: marker/mechanism
OMIM:133700 | OMIM:133701 | OMIM:600209
ClinVar Annotator: match by term: Multiple congenital exostosis | ClinVar Annotator: match by term: Multiple osteochondromas

CTD
MouseDO
ClinVar

PMID:9536098 PMID:17576681 PMID:23439489 PMID:25741868 PMID:28492532

NCBI chr 3:79,665,414...79,798,077
Ensembl chr 3:79,665,415...79,798,059

G

mal, T-cell differentiation protein 2

ClinVar Annotator: match by term: Multiple congenital exostosis

NCBI chr 7:85,900,453...85,933,433
Ensembl chr 7:85,900,453...85,933,429

G

mediator complex subunit 30

ClinVar Annotator: match by term: Multiple congenital exostosis

NCBI chr 7:84,004,735...84,026,474
Ensembl chr 7:84,004,722...84,026,595

G

protein tyrosine phosphatase, non-receptor type 11

CTD Direct Evidence: marker/mechanism

NCBI chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925

G

RAD21 cohesin complex component

ClinVar Annotator: match by term: Multiple congenital exostosis

NCBI chr 7:83,287,867...83,314,810
Ensembl chr 7:83,287,870...83,314,817

G

sterile alpha motif domain containing 12

ClinVar Annotator: match by term: Multiple congenital exostosis

NCBI chr 7:84,768,850...85,064,057
Ensembl chr 7:84,768,254...85,271,766

G

solute carrier family 30 member 8

ClinVar Annotator: match by term: Multiple congenital exostosis

NCBI chr 7:83,591,993...83,627,786
Ensembl chr 7:83,591,993...83,626,305

G

TATA-box binding protein associated factor 2

ClinVar Annotator: match by term: Multiple congenital exostosis

NCBI chr 7:86,422,613...86,479,616
Ensembl chr 7:86,422,613...86,479,616

G

TNF receptor superfamily member 11B

ClinVar Annotator: match by term: Multiple congenital exostosis

NCBI chr 7:85,566,520...85,594,526
Ensembl chr 7:85,566,520...85,594,538

G

UTP23, small subunit processome component

ClinVar Annotator: match by term: Multiple congenital exostosis

NCBI chr 7:83,185,187...83,196,652
Ensembl chr 7:83,189,656...83,196,655

hyperostosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

parathyroid hormone

CTD Direct Evidence: marker/mechanism

NCBI chr 1:167,508,121...167,511,530
Ensembl chr 1:167,508,598...167,511,530

Hyperostosis Cranialis Interna

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

solute carrier family 39 member 14

ClinVar Annotator: match by term: Hyperostosis cranialis interna

PMID:2300107 PMID:25741868 PMID:28492532 PMID:29621230

NCBI chr15:45,376,806...45,423,549
Ensembl chr15:45,376,917...45,423,524

hypomyelinating leukodystrophy 8

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

mutY DNA glycosylase

ClinVar Annotator: match by term: Endosteal sclerosis-cerebellar hypoplasia syndrome

PMID:25326637 PMID:25741868 PMID:28492532

NCBI chr 5:130,274,034...130,286,149
Ensembl chr 5:130,274,122...130,286,146

G

RNA polymerase III subunit A

ClinVar Annotator: match by term: Endosteal sclerosis-cerebellar hypoplasia syndrome

PMID:21855841 PMID:22855961 PMID:25741868 PMID:27029625 PMID:28447407 More...

NCBI chr16:49,178...88,178
Ensembl chr16:49,521...88,172

G

RNA polymerase III subunit B

ClinVar Annotator: match by term: Endosteal sclerosis-cerebellar hypoplasia syndrome | ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism | ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 8, with or without oligodontia and/or hypogonadotropic hypogonadism

PMID:9536098 PMID:16199547 PMID:17576681 PMID:18851904 PMID:22036171 More...

NCBI chr 7:19,039,179...19,142,450
Ensembl chr 7:19,038,552...19,142,598

hypophosphatemic nephrolithiasis/osteoporosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

coagulation factor XII

ClinVar Annotator: match by term: Nephrolithiasis/osteoporosis, hypophosphatemic

PMID:24033266 PMID:25050900 PMID:25741868 PMID:28492532 PMID:30943683

NCBI chr17:9,207,683...9,215,530
Ensembl chr17:9,207,683...9,215,530

G

solute carrier family 34 member 1

ClinVar Annotator: match by term: Nephrolithiasis/osteoporosis, hypophosphatemic

PMID:24033266 PMID:25050900 PMID:25741868 PMID:28492532 PMID:30943683

NCBI chr17:9,218,876...9,233,852
Ensembl chr17:9,218,876...9,233,852

hypophosphatemic nephrolithiasis/osteoporosis 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

coagulation factor XII

ClinVar Annotator: match by term: Hypophosphatemic nephrolithiasis/osteoporosis 1

PMID:25050900 PMID:25741868 PMID:28492532 PMID:30943683

NCBI chr17:9,207,683...9,215,530
Ensembl chr17:9,207,683...9,215,530

G

solute carrier family 34 member 1

ClinVar Annotator: match by term: Hypophosphatemic nephrolithiasis/osteoporosis 1
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:9536098 PMID:12324554 PMID:14672348 PMID:16199547 PMID:16688119 More...

NCBI chr17:9,218,876...9,233,852
Ensembl chr17:9,218,876...9,233,852

G

solute carrier family 34 member 3

ClinVar Annotator: match by term: Hypophosphatemic nephrolithiasis/osteoporosis 1

PMID:25741868 PMID:28492532 PMID:31672324

NCBI chr 3:8,044,294...8,050,034
Ensembl chr 3:8,044,296...8,049,970

hypophosphatemic nephrolithiasis/osteoporosis 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

NHERF family PDZ scaffold protein 1

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hypophosphatemic nephrolithiasis/osteoporosis 2

OMIM
CTD
ClinVar

PMID:18784102 PMID:24033266 PMID:25326635 PMID:25741868 PMID:28492532 More...

NCBI chr10:100,403,189...100,420,290
Ensembl chr10:100,403,069...100,420,598

Hypophosphatemic Rickets

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

dentin matrix acidic phosphoprotein 1

ClinVar Annotator: match by term: Hypophosphatemic rickets

PMID:24033266 PMID:25741868 PMID:35738466

NCBI chr14:5,528,441...5,542,078
Ensembl chr14:5,528,431...5,539,323

G

ectonucleotide pyrophosphatase/phosphodiesterase 1

ClinVar Annotator: match by term: Hypophosphatemic rickets

PMID:10480624 PMID:11739459 PMID:12881724 PMID:14671192 PMID:14988267 More...

NCBI chr 1:20,698,746...20,763,741
Ensembl chr 1:20,698,764...20,763,715

G

FAM20C, golgi associated secretory pathway kinase

RGD

NCBI chr12:15,826,864...15,885,423
Ensembl chr12:15,826,871...15,884,543

G

fibroblast growth factor 23

ClinVar Annotator: match by term: Hypophosphatemic rickets

PMID:11062477 PMID:11409890 PMID:11737582 PMID:11805436 PMID:12050201 More...

NCBI chr 4:159,914,267...159,923,821
Ensembl chr 4:159,914,272...159,923,821

G

HRas proto-oncogene, GTPase

ClinVar Annotator: match by term: Hypophosphatemic rickets

PMID:25741868 PMID:35738466

NCBI chr 1:196,290,127...196,299,823
Ensembl chr 1:196,296,263...196,300,615

G

leucine rich repeat containing 56

ClinVar Annotator: match by term: Hypophosphatemic rickets

PMID:25741868 PMID:35738466

NCBI chr 1:196,299,843...196,315,170
Ensembl chr 1:196,299,846...196,315,172

G

phosphate regulating endopeptidase X-linked

ClinVar Annotator: match by term: Hypophosphatemia, vitamin D-resistant rickets | ClinVar Annotator: match by term: Hypophosphatemic rickets

PMID:9097956 PMID:9106524 PMID:9199930 PMID:9768674 PMID:10737991 More...

NCBI chr X:37,607,553...37,856,183
Ensembl chr X:37,610,760...37,854,469

G

phytanoyl-CoA 2-hydroxylase

ClinVar Annotator: match by term: HYPOCALCEMIC VITAMIN D-RESISTANT RICKETS

PMID:10767344 PMID:14974078 PMID:16186124 PMID:25741868 PMID:27229527 More...

NCBI chr17:73,329,461...73,346,359
Ensembl chr17:73,329,082...73,346,409

G

serine protease 1

ClinVar Annotator: match by term: HYPOCALCEMIC VITAMIN D-RESISTANT RICKETS

PMID:2539344 PMID:6023921 PMID:9322498 PMID:9557894 PMID:9633818 More...

NCBI chr 4:70,364,589...70,367,792
Ensembl chr 4:70,364,586...70,367,792

G

vitamin D receptor

ClinVar Annotator: match by term: HYPOCALCEMIC VITAMIN D-RESISTANT RICKETS | ClinVar Annotator: match by term: Hypophosphatemia, vitamin D-resistant rickets
ClinVar Annotator: match by term: HYPOCALCEMIC VITAMIN D-RESISTANT RICKETS | ClinVar Annotator: match by term: Hypophosphatemic rickets

PMID:1652893 PMID:2174914 PMID:2177843 PMID:2557627 PMID:2558018 More...

NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677

G

WD repeat domain 72

ClinVar Annotator: match by term: Hypophosphatemic rickets

NCBI chr 8:74,838,338...75,020,938
Ensembl chr 8:74,838,318...75,018,229

Hypophosphatemic Rickets, Autosomal Recessive, 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

dentin matrix acidic phosphoprotein 1

ClinVar Annotator: match by term: Hypophosphatemic rickets, autosomal recessive, 1
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:9536098 PMID:16199547 PMID:16294270 PMID:17033621 PMID:17033625 More...

NCBI chr14:5,528,441...5,542,078
Ensembl chr14:5,528,431...5,539,323

Hypophosphatemic Rickets, Autosomal Recessive, 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ectonucleotide pyrophosphatase/phosphodiesterase 1

susceptibility

ClinVar Annotator: match by term: Hypophosphatemic rickets, autosomal recessive, 2
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:cds:p.Y901S (human)

OMIM
ClinVar
CTD
RGD

PMID:9662402 PMID:10453738 PMID:10480624 PMID:11739459 PMID:11771660 More...

RGD:6906930, RGD:6906931

NCBI chr 1:20,698,746...20,763,741
Ensembl chr 1:20,698,764...20,763,715

idiopathic juvenile osteoporosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

LDL receptor related protein 5

DNA:mutations:exon:c.3446 T > A (p.L1149Q),c.3553 G > A (p.G1185R)(human)

RGD

NCBI chr 1:200,814,247...200,917,581
Ensembl chr 1:200,814,250...200,917,581

inclusion body myopathy and brain white matter abnormalities

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

annexin A11

ClinVar Annotator: match by term: Inclusion body myopathy and brain white matter abnormalities

PMID:25741868 PMID:28469040 PMID:28492532 PMID:29845112 PMID:33087501 More...

NCBI chr16:1,412,373...1,457,814
Ensembl chr16:1,410,756...1,457,797

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

valosin-containing protein

ClinVar Annotator: match by term: Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1 | ClinVar Annotator: match by term: MULTISYSTEM PROTEINOPATHY 1

PMID:7182974 PMID:15034582 PMID:16247064 PMID:16321991 PMID:16790606 More...

NCBI chr 5:57,210,167...57,229,571
Ensembl chr 5:57,210,168...57,229,571

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

heterogeneous nuclear ribonucleoprotein A2/B1

ClinVar Annotator: match by term: Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2
ClinVar Annotator: match by term: Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 | ClinVar Annotator: match by term: MULTISYSTEM PROTEINOPATHY 2

PMID:9536098 PMID:11891683 PMID:16199547 PMID:17576681 PMID:23455423 More...

NCBI chr 4:80,534,659...80,545,297
Ensembl chr 4:80,534,651...80,545,249

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

heterogeneous nuclear ribonucleoprotein A1

ClinVar Annotator: match by term: Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3

PMID:20116073 PMID:23455423 PMID:25616961 PMID:25741868

NCBI chr 7:134,375,318...134,381,610
Ensembl chr 7:134,375,150...134,381,609

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

epidermal growth factor

protein:increased expression:plasma

RGD

NCBI chr 2:218,219,408...218,302,359
Ensembl chr 2:218,219,415...218,302,064

G

heterogeneous nuclear ribonucleoprotein A1

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Inclusion body myopathy with Paget disease of bone and frontotemporal dementia

PMID:23455423 PMID:25741868

NCBI chr 7:134,375,318...134,381,610
Ensembl chr 7:134,375,150...134,381,609

G

heterogeneous nuclear ribonucleoprotein A2/B1

DNA:missense mutation:cds:p.D290V (human)
CTD Direct Evidence: marker/mechanism

CTD
RGD

NCBI chr 4:80,534,659...80,545,297
Ensembl chr 4:80,534,651...80,545,249

G

tumor necrosis factor

protein:increased expression:plasma

RGD

NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629

G

valosin-containing protein

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Inclusion body myopathy with Paget disease of bone and frontotemporal dementia | ClinVar Annotator: match by term: Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia

CTD
ClinVar
MouseDO

PMID:7182974 PMID:9536098 PMID:15034582 PMID:16247064 PMID:16321991 More...

NCBI chr 5:57,210,167...57,229,571
Ensembl chr 5:57,210,168...57,229,571

Kenny-Caffey syndrome type 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

beta-1,3-N-acetylgalactosaminyltransferase 2

ClinVar Annotator: match by term: Autosomal recessive Kenny-Caffey syndrome

PMID:2001103 PMID:7538982 PMID:9475091 PMID:12389028 PMID:15645691 More...

NCBI chr17:51,334,921...51,377,469
Ensembl chr17:51,334,921...51,377,469

G

tubulin folding cofactor E

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Autosomal recessive Kenny-Caffey syndrome | ClinVar Annotator: match by term: Kenny-Caffey syndrome type 1

OMIM
CTD
ClinVar

PMID:2001103 PMID:7538982 PMID:9475091 PMID:12389028 PMID:15645691 More...

NCBI chr17:51,290,143...51,336,090
Ensembl chr17:51,290,202...51,336,089

Kenny-Caffey syndrome type 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

FAM111 trypsin like peptidase A

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Autosomal dominant Kenny-Caffey syndrome

OMIM
CTD
ClinVar

PMID:23684011 PMID:23996431 PMID:24635597 PMID:24970356 PMID:25741868 More...

NCBI chr 1:209,640,865...209,656,551
Ensembl chr 1:209,640,953...209,656,547

G

tubulin folding cofactor E

CTD Direct Evidence: marker/mechanism

NCBI chr17:51,290,143...51,336,090
Ensembl chr17:51,290,202...51,336,089

Keratosis Palmoplantaris with Periodontopathia and Onychogryposis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

cathepsin C

ClinVar Annotator: match by term: Haim-Munk syndrome
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:1886537 PMID:9536098 PMID:10581027 PMID:10593994 PMID:10662807 More...

NCBI chr 1:142,028,386...142,059,841
Ensembl chr 1:142,028,392...142,060,387

G

glutamate metabotropic receptor 5

ClinVar Annotator: match by term: Haim-Munk syndrome

NCBI chr 1:141,310,069...141,884,980
Ensembl chr 1:141,312,368...141,882,274

G

tyrosinase

ClinVar Annotator: match by term: Haim-Munk syndrome

NCBI chr 1:141,115,036...141,210,207
Ensembl chr 1:141,115,036...141,210,207

Kniest Like Dysplasia Lethal

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

heparan sulfate proteoglycan 2

ClinVar Annotator: match by term: Lethal Kniest-like syndrome

PMID:9536098 PMID:11279527 PMID:16199547 PMID:16927315 PMID:17576681 More...

NCBI chr 5:149,677,437...149,778,594
Ensembl chr 5:149,677,476...149,778,594

G

low density lipoprotein receptor class A domain containing 2

ClinVar Annotator: match by term: Lethal Kniest-like syndrome

PMID:25504735 PMID:25741868 PMID:26467025 PMID:28492532

NCBI chr 5:149,778,795...149,788,335
Ensembl chr 5:149,779,675...149,787,140

mandibuloacral dysplasia type A lipodystrophy

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

lamin A/C

ClinVar Annotator: match by term: Lipodystrophy, type A, associated with mandibuloacral dysplasia | ClinVar Annotator: match by term: Mandibuloacral dysostosis | ClinVar Annotator: match by term: Mandibuloacral dysplasia with type A lipodystrophy | ClinVar Annotator: match by term: Mandibuloacral dysplasia with type A lipodystrophy, atypical
DNA:missense mutation:cds:p.R527H (human)
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD
RGD

PMID:262236 PMID:2007407 PMID:2338570 PMID:2733290 PMID:2753225 More...

NCBI chr 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423

G

matrix metallopeptidase 9

CTD Direct Evidence: marker/mechanism

NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120

melorheostosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

mitogen activated protein kinase kinase 1

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: MELORHEOSTOSIS, ISOLATED | ClinVar Annotator: match by term: Melorheostosis

OMIM
CTD
ClinVar

PMID:7651428 PMID:12612583 PMID:15917206 PMID:16439621 PMID:16538226 More...

NCBI chr 8:64,683,449...64,754,900
Ensembl chr 8:64,683,449...64,755,147

Melorheostosis with Osteopoikilosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

LEM domain containing 3

ClinVar Annotator: match by term: Melorheostosis with osteopoikilosis

PMID:9295073 PMID:12749062 PMID:15489854 PMID:16470551 PMID:17087626 More...

NCBI chr 7:56,415,053...56,499,047
Ensembl chr 7:56,305,448...56,502,474

metachondromatosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

protein tyrosine phosphatase, non-receptor type 11

ClinVar Annotator: match by term: Metachondromatosis
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:4746100 PMID:9491886 PMID:9536098 PMID:9751050 PMID:11704759 More...

NCBI chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925

G

ribosomal protein L6

ClinVar Annotator: match by term: Metachondromatosis

NCBI chr12:35,347,493...35,352,011
Ensembl chr12:35,347,497...35,351,921

multicentric carpotarsal osteolysis syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

MAF bZIP transcription factor B

ClinVar Annotator: match by term: MAFB-related condition | ClinVar Annotator: match by term: Multicentric carpo-tarsal osteolysis with or without nephropathy
OMIM:166300
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
MouseDO
CTD

PMID:20436469 PMID:22387013 PMID:24989131 PMID:25741868 PMID:28492532 More...

NCBI chr 3:148,998,111...149,000,031
Ensembl chr 3:148,998,122...149,000,031

Multiple Exostoses Type I

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

exostosin glycosyltransferase 1

ClinVar Annotator: match by term: EXOSTOSES, MULTIPLE, TYPE I
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:7550340 PMID:8981950 PMID:9326317 PMID:9463333 PMID:9521425 More...

NCBI chr 7:84,375,769...84,654,625
Ensembl chr 7:84,375,784...84,655,357

G

exostosin glycosyltransferase 2

ClinVar Annotator: match by term: EXOSTOSES, MULTIPLE, TYPE I

PMID:23262345 PMID:24728327 PMID:25741868 PMID:28492532

NCBI chr 3:79,665,414...79,798,077
Ensembl chr 3:79,665,415...79,798,059

Multiple Exostoses Type II

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

exostosin glycosyltransferase 2

ClinVar Annotator: match by term: EXOSTOSES, MULTIPLE, TYPE II | ClinVar Annotator: match by term: Exostoses, multiple, type 2
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:8894688 PMID:9326317 PMID:9463333 PMID:9536098 PMID:10480354 More...

NCBI chr 3:79,665,414...79,798,077
Ensembl chr 3:79,665,415...79,798,059

Nestor-Guillermo progeria syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

BAF nuclear assembly factor 1

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Nestor-Guillermo progeria syndrome

OMIM
CTD
ClinVar

PMID:21549337 PMID:23720404 PMID:28492532

NCBI chr 1:202,672,170...202,674,215
Ensembl chr 1:202,671,305...202,674,188

G

eukaryotic translation initiation factor 1A domain containing

ClinVar Annotator: match by term: Nestor-Guillermo progeria syndrome

NCBI chr 1:202,674,362...202,679,662
Ensembl chr 1:202,674,185...202,679,658

Osteolysis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ANTXR cell adhesion molecule 2

CTD Direct Evidence: marker/mechanism

NCBI chr14:11,541,718...11,682,110
Ensembl chr14:11,541,772...11,682,094

G

integrin-binding sialoprotein

CTD Direct Evidence: marker/mechanism

NCBI chr14:5,439,825...5,452,570
Ensembl chr14:5,439,829...5,452,693

G

interferon, lambda 1

ameliorates

associated with Inflammation; human protein in a mouse model

RGD

NCBI chr 1:83,798,651...83,800,297
Ensembl chr 1:83,798,703...83,800,235

G

matrix metallopeptidase 2

OMIM:277950, Winchester syndrome

RGD

NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870

G

matrix metallopeptidase 7

associated with Prostatic Neoplasms

RGD

NCBI chr 8:4,848,186...4,855,908
Ensembl chr 8:4,848,186...4,855,902

G

parathyroid hormone-like hormone

CTD Direct Evidence: marker/mechanism

NCBI chr 4:180,188,792...180,199,847
Ensembl chr 4:180,188,792...180,199,847

G

secreted phosphoprotein 1

CTD Direct Evidence: marker/mechanism

NCBI chr14:5,308,885...5,315,120
Ensembl chr14:5,308,885...5,315,162

G

tumor necrosis factor

CTD Direct Evidence: marker/mechanism

NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629

G

TNF receptor superfamily member 11B

CTD Direct Evidence: therapeutic

NCBI chr 7:85,566,520...85,594,526
Ensembl chr 7:85,566,520...85,594,538

G

TNF superfamily member 11

CTD Direct Evidence: marker/mechanism

NCBI chr15:53,673,850...53,705,325
Ensembl chr15:53,673,877...53,705,445

Osteolysis Hereditary Multicentric

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

lysophosphatidylcholine acyltransferase 2

ClinVar Annotator: match by term: Osteolysis, hereditary multicentric

NCBI chr19:14,088,389...14,152,742
Ensembl chr19:14,089,686...14,152,829

G

matrix metallopeptidase 2

ClinVar Annotator: match by term: Multicentric Osteolysis-Nodulosis-Arthropathy (MONA) Spectrum Disorders | ClinVar Annotator: match by term: Multicentric osteolysis, nodulosis, and arthropathy | ClinVar Annotator: match by term: Osteolysis, hereditary multicentric
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:2625626 PMID:6525336 PMID:9536098 PMID:10356396 PMID:11431697 More...

NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870

osteomalacia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

fibrillin 1

protein:increased expression:cortical bone, trabecular bone (mouse)

RGD

NCBI chr 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889

G

matrix extracellular phosphoglycoprotein

CTD Direct Evidence: marker/mechanism

NCBI chr14:5,420,634...5,432,186
Ensembl chr14:5,420,635...5,432,183

osteopathia striata with cranial sclerosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

APC membrane recruitment protein 1

OMIM:300373
ClinVar Annotator: match by term: AMER1-related condition | ClinVar Annotator: match by term: Osteopathia striata with cranial sclerosis
CTD Direct Evidence: marker/mechanism

OMIM
MouseDO
ClinVar
CTD

PMID:8723089 PMID:9327263 PMID:9383023 PMID:19079258 PMID:20209645 More...

NCBI chr X:60,300,595...60,316,480
Ensembl chr X:60,295,751...60,316,440

G

Cdc42 guanine nucleotide exchange factor 9

ClinVar Annotator: match by term: Osteopathia striata with cranial sclerosis

PMID:9383023 PMID:19079258 PMID:20209645 PMID:25741868

NCBI chr X:59,919,560...60,077,538
Ensembl chr X:59,920,870...60,077,513

G

ankyrin repeat and SOCS box-containing 12

ClinVar Annotator: match by term: Osteopathia striata with cranial sclerosis

PMID:9383023 PMID:19079258 PMID:20209645 PMID:25741868

NCBI chr X:60,328,325...60,478,031
Ensembl chr X:60,328,328...60,415,619

G

LAS1-like, ribosome biogenesis factor

ClinVar Annotator: match by term: Osteopathia striata with cranial sclerosis

PMID:9383023 PMID:19079258 PMID:20209645

NCBI chr X:60,851,969...60,873,717
Ensembl chr X:60,851,962...60,873,687

G

spindlin family, member 4

ClinVar Annotator: match by term: Osteopathia striata with cranial sclerosis

PMID:9383023 PMID:19079258 PMID:20209645

NCBI chr X:59,888,728...59,892,817
Ensembl chr X:59,891,581...59,892,330

G

zinc finger CCCH-type containing 12B

ClinVar Annotator: match by term: Osteopathia striata with cranial sclerosis

PMID:9383023 PMID:19079258 PMID:20209645

NCBI chr X:60,615,616...60,849,278
Ensembl chr X:60,615,682...60,844,832

G

zinc finger C4H2-type containing

ClinVar Annotator: match by term: Osteopathia striata with cranial sclerosis

PMID:9383023 PMID:19079258 PMID:20209645

NCBI chr X:60,525,706...60,546,519
Ensembl chr X:60,525,712...60,546,488

G

zinc finger, X-linked, duplicated A

ClinVar Annotator: match by term: Osteopathia striata with cranial sclerosis

PMID:9383023 PMID:19079258 PMID:20209645

NCBI chr X:59,760,871...59,766,010
Ensembl chr X:59,763,210...59,765,903

G

zinc finger, X-linked, duplicated B

ClinVar Annotator: match by term: Osteopathia striata with cranial sclerosis

PMID:9383023 PMID:19079258 PMID:20209645

NCBI chr  X:59,700,765...59,706,737
Ensembl chr  X:59,701,178...59,703,871
Ensembl chr  X:59,701,178...59,703,871

osteopetrosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

carbonic anhydrase 2

susceptibility

DNA:splice-site mutation

RGD

NCBI chr 2:86,741,625...86,756,766
Ensembl chr 2:86,741,626...86,756,818

G

CCAAT/enhancer binding protein alpha

RGD

NCBI chr 1:87,759,631...87,762,303
Ensembl chr 1:87,759,433...87,762,412

G

chloride voltage-gated channel 7

ClinVar Annotator: match by term: Albers-Schoenberg disease | ClinVar Annotator: match by term: Osteopetrosis
CTD Direct Evidence: marker/mechanism

ClinVar
CTD
RGD

PMID:11741829 PMID:14584882 PMID:15111300 PMID:16234969 PMID:17164308 More...

NCBI chr10:14,151,758...14,177,130
Ensembl chr10:14,151,758...14,177,130

G

colony stimulating factor 1

DNA:insertion:cds (rat)

NCBI chr 2:195,377,215...195,396,608
Ensembl chr 2:195,377,215...195,411,704

G

colony stimulating factor 1; tooth less mutant

RGD

G

cathepsin K

RGD

NCBI chr 2:183,058,586...183,069,551
Ensembl chr 2:183,058,569...183,069,550

G

FERM domain containing kindlin 3

CTD Direct Evidence: marker/mechanism

NCBI chr 1:204,189,483...204,207,683
Ensembl chr 1:204,189,484...204,207,587

G

FOS like 1, AP-1 transcription factor subunit

RGD

NCBI chr 1:202,754,549...202,763,057
Ensembl chr 1:202,754,529...202,764,930

G

growth hormone receptor

protein:decreased expression:osteoclast

RGD

NCBI chr 2:52,541,452...52,804,960
Ensembl chr 2:52,542,594...52,804,735

G

Jun proto-oncogene, AP-1 transcription factor subunit

RGD

NCBI chr 5:109,894,175...109,897,268
Ensembl chr 5:109,893,145...109,897,656

G

LDL receptor related protein 5

ClinVar Annotator: match by term: High bone mass

PMID:11741193 PMID:12015390 PMID:25741868 PMID:28492532

NCBI chr 1:200,814,247...200,917,581
Ensembl chr 1:200,814,250...200,917,581

G

leucine-rich repeat kinase 1

NCBI chr 1:119,844,360...119,972,885
Ensembl chr 1:119,845,146...119,979,734

G

melanocyte inducing transcription factor

NCBI chr 4:130,409,020...130,621,145
Ensembl chr 4:130,409,217...130,621,145

G

NADH:ubiquinone oxidoreductase core subunit S8

ClinVar Annotator: match by term: Osteopetrosis

NCBI chr 1:201,140,585...201,144,573
Ensembl chr 1:201,140,585...201,144,511

G

osteoclastogenesis associated transmembrane protein 1

ClinVar Annotator: match by term: Osteopetrosis

NCBI chr20:46,071,657...46,187,049
Ensembl chr20:46,153,075...46,187,023

G

sorting nexin 10

ClinVar Annotator: match by term: Infantile osteopetrosis

PMID:25590979 PMID:25741868 PMID:27187610 PMID:28492532

NCBI chr 4:80,612,648...80,677,005
Ensembl chr 4:80,612,669...80,676,996

G

T-cell immune regulator 1, ATPase H+ transporting V0 subunit A3

ClinVar Annotator: match by term: Osteopetrosis

PMID:10888887 PMID:10942435 PMID:11532986 PMID:12552563 PMID:15300850 More...

NCBI chr 1:201,127,034...201,138,787
Ensembl chr 1:201,127,034...201,138,742

G

TNF receptor superfamily member 11A

ClinVar Annotator: match by term: Osteopetrosis

PMID:24033266 PMID:25741868 PMID:28492532

NCBI chr13:21,928,370...21,986,719
Ensembl chr13:21,928,408...21,986,695

G

TNF superfamily member 11

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Osteopetrosis

NCBI chr15:53,673,850...53,705,325
Ensembl chr15:53,673,877...53,705,445

Osteopetrosis and Infantile Neuroaxonal Dystrophy

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

phospholipase A2 group VI

ClinVar Annotator: match by term: Osteopetrosis and infantile neuroaxonal dystrophy

PMID:2668131 PMID:18414213 PMID:18443314 PMID:20301718 PMID:20619503 More...

NCBI chr 7:110,851,378...110,891,557
Ensembl chr 7:110,851,378...110,891,114

Osteophytes

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

growth hormone 1

associated with Acromegaly

RGD

NCBI chr10:91,228,102...91,230,079
Ensembl chr10:91,228,103...91,230,078

G

insulin-like growth factor 1

associated with Acromegaly

RGD

NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296

Osteopoikilosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

LEM domain containing 3

ClinVar Annotator: match by term: Osteopoikilosis

NCBI chr 7:56,415,053...56,499,047
Ensembl chr 7:56,305,448...56,502,474

osteoporosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ABL proto-oncogene 1, non-receptor tyrosine kinase

RGD

NCBI chr 3:14,979,853...15,083,065
Ensembl chr 3:14,979,853...15,083,065

G

angiotensin I converting enzyme

associated with Hypertension

RGD

NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131

G

actin, gamma 1

CTD Direct Evidence: marker/mechanism

NCBI chr10:105,619,738...105,622,587
Ensembl chr10:105,619,737...105,624,232
Ensembl chr 3:105,619,737...105,624,232

G

adenylate cyclase 5

CTD Direct Evidence: marker/mechanism

NCBI chr11:65,471,612...65,618,877
Ensembl chr11:65,471,612...65,618,974

G

advanced glycosylation end product-specific receptor

mRNA:increased expression:proximal end of left femur (rat)

RGD

PMID:21542009 PMID:22036861

RGD:6767561, RGD:7245948

NCBI chr20:4,148,150...4,151,361
Ensembl chr20:4,147,890...4,151,078

G

alkaline phosphatase, biomineralization associated

ClinVar Annotator: match by term: Osteoporosis

PMID:3174660 PMID:10679946 PMID:19500388 PMID:25741868 PMID:28492532 More...

NCBI chr 5:149,951,397...150,006,424
Ensembl chr 5:149,951,409...150,006,446

G

ANTXR cell adhesion molecule 2

CTD Direct Evidence: marker/mechanism

NCBI chr14:11,541,718...11,682,110
Ensembl chr14:11,541,772...11,682,094

G

annexin A2

CTD Direct Evidence: marker/mechanism

NCBI chr 8:70,105,268...70,141,663
Ensembl chr 8:70,105,253...70,141,658

G

androgen receptor

treatment

RGD

PMID:14600402 PMID:18847323

RGD:10043196, RGD:10043198

NCBI chr X:63,104,771...63,273,934
Ensembl chr X:63,104,771...63,273,925

G

5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase

CTD Direct Evidence: marker/mechanism

NCBI chr 9:73,164,846...73,184,897
Ensembl chr 9:73,164,846...73,184,889

G

ATM serine/threonine kinase

RGD

NCBI chr 8:53,828,741...53,932,773
Ensembl chr 8:53,831,093...53,932,437

G

ATPase H+/K+ transporting subunit beta

treatment

RGD

NCBI chr16:76,144,150...76,153,063
Ensembl chr16:76,144,150...76,153,063

G

BCL2 associated X, apoptosis regulator

treatment

RGD

NCBI chr 1:95,940,001...95,945,407
Ensembl chr 1:95,938,808...95,945,368

G

BCL2, apoptosis regulator

treatment

RGD

NCBI chr13:22,689,783...22,853,920
Ensembl chr13:22,684,989...22,853,743
Ensembl chr13:22,684,989...22,853,743

G

bone gamma-carboxyglutamate protein

susceptibility

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 2:173,838,518...173,839,495
Ensembl chr 2:173,838,518...173,839,495

G

bone morphogenetic protein 2

RGD

NCBI chr 3:120,812,660...120,822,579
Ensembl chr 3:120,812,882...120,821,397

G

bone morphogenetic protein 4

CTD Direct Evidence: marker/mechanism

NCBI chr15:19,618,538...19,633,494
Ensembl chr15:19,618,542...19,623,306

G

calcitonin-related polypeptide alpha

RGD

NCBI chr 1:168,878,212...168,883,176
Ensembl chr 1:168,878,214...168,883,105

G

calcitonin receptor

susceptibility

DNA:SNP:cds:g.1340T>C (human)
CTD Direct Evidence: marker/mechanism

NCBI chr 4:31,661,270...31,736,392
Ensembl chr 4:31,661,273...31,736,392

G

cyclase associated actin cytoskeleton regulatory protein 1

CTD Direct Evidence: marker/mechanism

NCBI chr 5:135,142,108...135,168,885
Ensembl chr 5:135,142,112...135,168,769

G

carbonic anhydrase 2

CTD Direct Evidence: marker/mechanism

NCBI chr 2:86,741,625...86,756,766
Ensembl chr 2:86,741,626...86,756,818

G

chaperonin containing TCP1 subunit 2

CTD Direct Evidence: marker/mechanism

NCBI chr 7:52,692,725...52,705,478
Ensembl chr 7:52,692,725...52,706,944

G

class II, major histocompatibility complex, transactivator

OMIM:166710

NCBI chr10:5,139,947...5,187,493
Ensembl chr10:5,140,178...5,187,440

G

C-type lectin domain containing 11A

CTD Direct Evidence: marker/mechanism

NCBI chr 1:94,800,456...94,809,002
Ensembl chr 1:94,801,496...94,804,633

G

collagen type I alpha 1 chain

susceptibility

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: OSTEOPOROSIS, INVOLUTIONAL | ClinVar Annotator: match by term: Osteoporosis
ClinVar Annotator: match by term: Bone mineral density quantitative trait locus 18 | 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
CTD
ClinVar
RGD

PMID:2037280 PMID:2542316 PMID:7695699 PMID:7942841 PMID:8218237 More...

RGD:11041180, RGD:10045665

NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624

G

collagen type I alpha 2 chain

ClinVar Annotator: match by term: OSTEOPOROSIS, INVOLUTIONAL | ClinVar Annotator: match by term: Osteoporosis
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:1978725 PMID:2985635 PMID:7695699 PMID:7860070 PMID:8094076 More...

NCBI chr 4:32,563,938...32,598,868
Ensembl chr 4:32,563,381...32,598,867

G

cathepsin K

RGD

NCBI chr 2:183,058,586...183,069,551
Ensembl chr 2:183,058,569...183,069,550

G

C-X-C motif chemokine receptor 4

RGD

NCBI chr13:40,077,976...40,081,883
Ensembl chr13:40,077,976...40,081,883

G

cytochrome P450, family 17, subfamily a, polypeptide 1

DNA:snps:multiple (human)

RGD

NCBI chr 1:245,535,462...245,543,148
Ensembl chr 1:245,535,462...245,541,573

G

cytochrome P450, family 19, subfamily a, polypeptide 1

DNA:snps:multiple (human)
CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:20723554 PMID:17002564

NCBI chr 8:54,552,978...54,580,375
Ensembl chr 8:54,553,165...54,580,758

G

cytochrome P450, family 24, subfamily a, polypeptide 1

CTD Direct Evidence: marker/mechanism

NCBI chr 3:159,275,947...159,290,383
Ensembl chr 3:159,275,947...159,290,383

G

dishevelled associated activator of morphogenesis 2

CTD Direct Evidence: marker/mechanism

NCBI chr 9:11,428,913...11,546,982
Ensembl chr 9:11,428,724...11,545,497

G

D-box binding PAR bZIP transcription factor

RGD

NCBI chr 1:96,175,796...96,180,745
Ensembl chr 1:96,175,440...96,180,745

G

dentin sialophosphoprotein

protein:decreased expression:incisor dental pulp (rat)

RGD

NCBI chr14:5,565,562...5,571,669
Ensembl chr14:5,565,629...5,571,672

G

enolase 1

CTD Direct Evidence: marker/mechanism

NCBI chr 5:160,719,951...160,731,337
Ensembl chr 5:160,719,951...160,731,336

G

ERCC excision repair 1, endonuclease non-catalytic subunit

RGD

NCBI chr 1:78,971,310...79,007,963
Ensembl chr 1:78,996,390...79,007,963

G

estrogen receptor 1

no_association
treatment

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 More...

RGD:10045665, RGD:10045841, RGD:10045839, RGD:10045839, RGD:10045834, RGD:8694129, RGD:10045828, RGD:10045826, RGD:10045825

NCBI chr 1:41,106,335...41,499,104
Ensembl chr 1:41,210,475...41,495,002

G

estrogen receptor 2

susceptibility
treatment

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 6:94,858,438...94,909,630
Ensembl chr 6:94,809,547...94,908,919

G

estrogen related receptor, alpha

RGD

NCBI chr 1:204,104,100...204,114,182
Ensembl chr 1:204,104,101...204,114,268

G

fibrillin 1

ClinVar Annotator: match by term: Osteoporosis

NCBI chr 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889

G

fibrinogen alpha chain

CTD Direct Evidence: marker/mechanism

NCBI chr 2:168,374,120...168,381,523
Ensembl chr 2:168,374,120...168,381,528

G

fibrinogen beta chain

CTD Direct Evidence: marker/mechanism

NCBI chr 2:168,394,901...168,402,863
Ensembl chr 2:168,394,916...168,405,979

G

glyceraldehyde-3-phosphate dehydrogenase

CTD Direct Evidence: marker/mechanism

NCBI chr 4:157,962,312...157,967,158
Ensembl chr 4:157,962,343...157,966,235

G

growth hormone 1

associated with Diabetes Mellitus, Experimental

RGD

NCBI chr10:91,228,102...91,230,079
Ensembl chr10:91,228,103...91,230,078

G

growth hormone receptor

treatment

associated with Uremia;protein:altered expression:osteoblast, osteoclast, chondroblast
associated with Cholestasis

RGD

PMID:17647196 PMID:19424739

RGD:10003128, RGD:10003131

NCBI chr 2:52,541,452...52,804,960
Ensembl chr 2:52,542,594...52,804,735

G

golgi membrane protein 1

treatment

protein:increased expression:serum

RGD

PMID:30396165 PMID:30396165

RGD:401827113, RGD:401827113

NCBI chr17:4,995,925...5,044,329
Ensembl chr17:4,996,104...5,034,057

G

golgin, RAB6-interacting

CTD Direct Evidence: marker/mechanism

NCBI chr13:75,745,678...75,762,307
Ensembl chr13:75,745,680...75,762,298

G

glypican 6

CTD Direct Evidence: marker/mechanism

NCBI chr15:94,030,218...95,027,883
Ensembl chr15:94,029,884...95,024,006

G

glycerol-3-phosphate dehydrogenase 2

CTD Direct Evidence: marker/mechanism

NCBI chr 3:41,800,552...41,937,729
Ensembl chr 3:41,801,930...41,936,901

G

glutathione peroxidase 1

CTD Direct Evidence: marker/mechanism

NCBI chr 8:109,026,905...109,028,031
Ensembl chr 8:109,026,905...109,028,024

G

gelsolin

CTD Direct Evidence: marker/mechanism

NCBI chr 3:18,585,166...18,638,404
Ensembl chr 3:18,585,172...18,638,402

G

glutathione-disulfide reductase

protein:decreased expression:blood

RGD

NCBI chr16:58,482,209...58,525,256
Ensembl chr16:58,482,505...58,525,661

G

glutathione S-transferase pi 1

associated with Cystic Fibrosis;DNA:missense mutation:cds:c.313A>G (p.I105V) (human)

RGD

NCBI chr 1:201,337,762...201,340,230
Ensembl chr 1:201,321,672...201,340,226

G

homeostatic iron regulator

associated with hemochromatosis

RGD

NCBI chr17:41,413,451...41,421,502
Ensembl chr17:41,413,451...41,421,502

G

inhibitor of DNA binding 4

OMIM:166710

NCBI chr17:16,389,387...16,391,956
Ensembl chr17:16,389,387...16,392,470

G

isocitrate dehydrogenase (NADP(+)) 2

CTD Direct Evidence: marker/mechanism

NCBI chr 1:134,038,644...134,057,969
Ensembl chr 1:134,029,772...134,058,025

G

interferon gamma receptor 1

OMIM:166710

NCBI chr 1:14,333,167...14,351,799
Ensembl chr 1:14,333,187...14,351,785

G

insulin-like growth factor 1

treatment

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 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296

G

insulin-like growth factor 1 receptor

RGD

NCBI chr 1:121,549,831...121,838,548
Ensembl chr 1:121,550,743...121,831,777

G

insulin-like growth factor 2

treatment

RGD

NCBI chr 1:197,814,409...197,831,802
Ensembl chr 1:197,814,410...197,823,018

G

insulin-like growth factor binding protein 3

protein:decreased expression:serum

RGD

NCBI chr14:82,056,347...82,064,083
Ensembl chr14:82,056,347...82,064,083

G

interleukin 1 alpha

associated with Arthritis, Rheumatoid

RGD

NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822

G

interleukin 1 beta

RGD

NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415

G

interleukin 1 receptor antagonist

treatment

human protein in a rat model

RGD

NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445

G

interleukin 6

CTD Direct Evidence: marker/mechanism

NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178

G

interleukin 6 receptor

CTD Direct Evidence: marker/mechanism

NCBI chr 2:175,289,157...175,347,719
Ensembl chr 2:175,298,686...175,347,536

G

interleukin-1 receptor-associated kinase 3

OMIM:166710

NCBI chr 7:55,653,949...55,714,371
Ensembl chr 7:55,653,962...55,713,121

G

insulin receptor substrate 1

mRNA, protein:decreased expression:multiple

RGD

NCBI chr 9:83,552,964...83,605,797
Ensembl chr 9:83,548,944...83,606,122

G

insulin receptor substrate 2

associated with Diabetes Mellitus, Type 2; protein:decreased expression:liver,kidney, muscle:

RGD

NCBI chr16:78,488,249...78,512,482
Ensembl chr16:78,485,045...78,512,482

G

Klotho

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:9363890 PMID:9363890

NCBI chr12:490,402...531,417
Ensembl chr12:490,399...530,080

G

leptin

treatment

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 4:57,661,127...57,675,262
Ensembl chr 4:57,661,131...57,675,262

G

leptin receptor

susceptibility

DNA:polymorphisms:cds:p.K109R,Q223R(human)

RGD

NCBI chr 5:116,294,409...116,477,904
Ensembl chr 5:116,289,823...116,475,908

G

LDL receptor related protein 5

treatment

ClinVar Annotator: match by term: LRP5-related primary osteoporosis | ClinVar Annotator: match by term: OSTEOPOROSIS, INVOLUTIONAL | ClinVar Annotator: match by term: Osteoporosis
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Bone mineral density quantitative trait locus 1 | ClinVar Annotator: match by term: LRP5-related primary osteoporosis | ClinVar Annotator: match by term: OSTEOPOROSIS, INVOLUTIONAL | ClinVar Annotator: match by term: Osteoporosis

ClinVar
CTD
RGD

PMID:9536098 PMID:11719191 PMID:11793484 PMID:12579474 PMID:14727154 More...

RGD:1625350, RGD:7240519, RGD:12793063

NCBI chr 1:200,814,247...200,917,581
Ensembl chr 1:200,814,250...200,917,581

G

lactotransferrin

CTD Direct Evidence: therapeutic

PMID:16648989 PMID:16936800

NCBI chr 8:110,999,948...111,022,795
Ensembl chr 8:110,999,948...111,022,795

G

lymphocyte antigen 6 family member A

OMIM:166710

NCBI chr 7:107,177,191...107,189,436
Ensembl chr 7:107,183,469...107,189,981

G

mitogen activated protein kinase 14

treatment

RGD

NCBI chr20:6,749,646...6,810,590
Ensembl chr20:6,749,670...6,810,589

G

monoglyceride lipase

CTD Direct Evidence: marker/mechanism

NCBI chr 4:121,192,186...121,294,187
Ensembl chr 4:121,192,195...121,294,179

G

microRNA 152

miRNA:increased expression:femur

RGD

NCBI chr10:81,832,936...81,833,020
Ensembl chr10:81,832,936...81,833,020

G

matrix metallopeptidase 9

associated with osteoporosis; protein:increased expression:serum

RGD

NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120

G

MYC proto-oncogene, bHLH transcription factor

RGD

NCBI chr 7:93,593,705...93,598,633
Ensembl chr 7:93,593,705...93,598,630

G

noggin

RGD

NCBI chr10:74,128,712...74,130,339
Ensembl chr10:74,128,712...74,130,339

G

nuclear receptor interacting protein 1

DNA:silent mutation, haplotype:p.G75G (human)

RGD

NCBI chr11:14,895,843...14,979,490
Ensembl chr11:14,895,553...14,981,761

G

OPA1, mitochondrial dynamin like GTPase

ClinVar Annotator: match by term: Osteoporosis

NCBI chr11:71,108,100...71,185,170
Ensembl chr11:71,109,873...71,185,109

G

3-oxoacid CoA transferase 1

CTD Direct Evidence: marker/mechanism

NCBI chr 2:53,236,370...53,384,715
Ensembl chr 2:53,236,368...53,384,714

G

prolyl 4-hydroxylase subunit beta

CTD Direct Evidence: marker/mechanism

NCBI chr10:105,836,972...105,848,583
Ensembl chr10:105,836,982...105,848,500

G

Parkinsonism associated deglycase

CTD Direct Evidence: marker/mechanism

NCBI chr 5:161,353,718...161,376,993
Ensembl chr 5:161,353,719...161,376,970

G

proliferating cell nuclear antigen

protein:increased expression:osteoblast:

RGD

NCBI chr 3:119,499,039...119,502,911
Ensembl chr 3:119,498,810...119,502,995

G

PDZ and LIM domain 4

susceptibility

CTD Direct Evidence: marker/mechanism

NCBI chr10:38,198,686...38,212,935
Ensembl chr10:38,198,689...38,212,938

G

6-phosphogluconolactonase

CTD Direct Evidence: marker/mechanism

NCBI chr16:18,300,317...18,305,803
Ensembl chr16:18,300,317...18,305,803

G

pyruvate kinase M1/2

CTD Direct Evidence: marker/mechanism

NCBI chr 8:60,057,629...60,079,600
Ensembl chr 8:60,057,402...60,079,599

G

pleckstrin

CTD Direct Evidence: marker/mechanism

NCBI chr14:91,397,015...91,429,693
Ensembl chr14:91,397,019...91,454,131

G

plastin 3

OMIM:166710

NCBI chr X:111,589,193...111,683,908
Ensembl chr X:111,589,254...111,683,891

G

purine nucleoside phosphorylase

CTD Direct Evidence: marker/mechanism

NCBI chr15:24,170,607...24,178,269
Ensembl chr15:24,170,602...24,203,986

G

proopiomelanocortin

CTD Direct Evidence: marker/mechanism

PMID:3017235 PMID:4367732 PMID:6143199 PMID:6254450 PMID:19153526

NCBI chr 6:26,939,844...26,945,666
Ensembl chr 6:26,939,837...26,945,664

G

peroxiredoxin 3

CTD Direct Evidence: marker/mechanism

NCBI chr 1:260,001,642...260,014,064
Ensembl chr 1:260,001,637...260,014,111

G

proteasome 20S subunit alpha 2

CTD Direct Evidence: marker/mechanism

NCBI chr17:50,554,536...50,564,923
Ensembl chr17:50,551,924...50,564,938

G

proteasome 20S subunit alpha 5

CTD Direct Evidence: marker/mechanism

NCBI chr 2:195,896,369...195,919,733
Ensembl chr 2:195,896,365...195,919,731

G

prostaglandin E receptor 4

treatment

RGD

NCBI chr 2:54,330,563...54,347,451
Ensembl chr 2:54,335,424...54,346,670

G

parathyroid hormone

treatment

CTD Direct Evidence: therapeutic
protein:decreased expression:serum (rat)

CTD
RGD

PMID:15710971 PMID:17317460 PMID:17882678 PMID:19578808 PMID:21306167 More...

RGD:7242793, RGD:7242907

NCBI chr 1:167,508,121...167,511,530
Ensembl chr 1:167,508,598...167,511,530

G

Rab7b, member RAS oncogene family

CTD Direct Evidence: marker/mechanism

NCBI chr13:43,121,168...43,147,581
Ensembl chr13:43,121,226...43,147,581

G

renin

CTD Direct Evidence: marker/mechanism

NCBI chr13:44,796,260...44,807,491
Ensembl chr13:44,796,091...44,807,489

G

Ras suppressor protein 1

CTD Direct Evidence: marker/mechanism

NCBI chr17:76,128,774...76,377,515
Ensembl chr17:76,188,812...76,377,454

G

ryanodine receptor 1

ClinVar Annotator: match by term: Osteoporosis

PMID:25741868 PMID:28492532

NCBI chr 1:84,292,578...84,423,824
Ensembl chr 1:84,292,578...84,423,812

G

serpin family F member 1

ClinVar Annotator: match by term: Osteoporosis

PMID:25741868 PMID:28492532 PMID:29150909 PMID:30968248

NCBI chr10:60,250,198...60,262,593
Ensembl chr10:60,249,708...60,262,646

G

sirtuin 1

treatment

RGD

PMID:22555620 PMID:25377437

RGD:10047129, RGD:10053568

NCBI chr20:25,307,225...25,329,273
Ensembl chr20:25,306,917...25,329,260

G

superoxide dismutase 2

susceptibility
no_association

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
RGD

PMID:18924182 PMID:26336112 PMID:26336112

RGD:11035299, RGD:11035299

NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189

G

telomerase RNA component

OMIM:166710

NCBI chr 2:112,815,654...112,816,041

G

transforming growth factor, beta 1

treatment

associated with Uremia;protein:increased expression:osteoblast, osteoclast
CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:12706579 PMID:17647196

NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847

G

talin 1

CTD Direct Evidence: marker/mechanism

NCBI chr 5:57,787,670...57,817,900
Ensembl chr 5:57,787,943...57,817,900

G

TNF receptor superfamily member 11A

NCBI chr13:21,928,370...21,986,719
Ensembl chr13:21,928,408...21,986,695

G

TNF receptor superfamily member 11B

CTD Direct Evidence: marker/mechanism
OMIM:166710

NCBI chr 7:85,566,520...85,594,526
Ensembl chr 7:85,566,520...85,594,538

G

TNF receptor superfamily member 1B

RGD

NCBI chr 5:157,070,642...157,104,216
Ensembl chr 5:157,070,642...157,104,206

G

TNF superfamily member 11

OMIM:166710
CTD Direct Evidence: therapeutic

MouseDO
CTD
RGD

PMID:17882678 PMID:17002564

NCBI chr15:53,673,850...53,705,325
Ensembl chr15:53,673,877...53,705,445

G

triosephosphate isomerase 1

CTD Direct Evidence: marker/mechanism

NCBI chr 4:157,615,283...157,618,813
Ensembl chr 4:157,615,386...157,619,541

G

tropomyosin 4

CTD Direct Evidence: marker/mechanism

NCBI chr16:17,684,415...17,698,456
Ensembl chr16:17,683,195...17,705,984

G

tubulin, alpha 1B

CTD Direct Evidence: marker/mechanism

NCBI chr 7:130,090,663...130,093,644
Ensembl chr 7:130,081,032...130,196,186

G

tubulin, alpha 1C

CTD Direct Evidence: marker/mechanism

NCBI chr 7:130,192,050...130,199,655
Ensembl chr 7:130,192,016...130,199,647
Ensembl chr X:130,192,016...130,199,647

G

U2 small nuclear RNA auxiliary factor 1

CTD Direct Evidence: marker/mechanism

NCBI chr20:9,742,904...9,753,840
Ensembl chr20:9,742,905...9,753,832

G

vinculin

CTD Direct Evidence: marker/mechanism

NCBI chr15:3,265,776...3,355,586
Ensembl chr15:3,265,815...3,355,606

G

vitamin D receptor

no_association

associated with Cystic Fibrosis
OMIM:166710

NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677

G

WD repeat domain 1

CTD Direct Evidence: marker/mechanism

NCBI chr14:72,258,032...72,291,768
Ensembl chr14:72,257,956...72,291,766

G

Wnt family member 1

ClinVar Annotator: match by term: OSTEOPOROSIS, EARLY-ONSET, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Osteoporosis
CTD Direct Evidence: marker/mechanism

PMID:23499309 PMID:23656646 PMID:25741868

NCBI chr 7:129,938,604...129,942,651
Ensembl chr 7:129,938,604...129,942,651

G

zinc finger DHHC-type palmitoyltransferase 13

CTD Direct Evidence: marker/mechanism

NCBI chr 1:98,487,319...98,525,906
Ensembl chr 1:98,487,358...98,525,905

Osteoporosis, Childhood- or Juvenile-Onset, with Developmental Delay

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

COPI coat complex subunit beta 2

ClinVar Annotator: match by term: Osteoporosis, childhood- or juvenile-onset, with developmental delay

PMID:25741868 PMID:34450031

NCBI chr 8:99,161,324...99,183,452
Ensembl chr 8:99,161,350...99,185,197

osteosclerosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

chloride voltage-gated channel 7

ClinVar Annotator: match by term: Osteosclerosis

PMID:11741829 PMID:14584882 PMID:16234969 PMID:17164308 PMID:19543743 More...

NCBI chr10:14,151,758...14,177,130
Ensembl chr10:14,151,758...14,177,130

G

catenin beta 1

ClinVar Annotator: match by term: Osteosclerosis

PMID:25741868 PMID:38173341

NCBI chr 8:120,640,008...120,667,110
Ensembl chr 8:120,639,995...120,667,111

G

LDL receptor related protein 5

ClinVar Annotator: match by term: Osteosclerosis

PMID:11719191 PMID:11741193 PMID:11793484 PMID:12015390 PMID:12579474 More...

NCBI chr 1:200,814,247...200,917,581
Ensembl chr 1:200,814,250...200,917,581

G

latent transforming growth factor beta binding protein 3

CTD Direct Evidence: marker/mechanism

PMID:11790802 PMID:12379497

NCBI chr 1:203,029,412...203,045,975
Ensembl chr 1:203,029,877...203,045,975

G

pleckstrin homology and RUN domain containing M1

ClinVar Annotator: match by term: Osteosclerosis

NCBI chr10:88,313,837...88,366,182
Ensembl chr10:88,314,651...88,362,412

G

tubulin folding cofactor E

CTD Direct Evidence: marker/mechanism

NCBI chr17:51,290,143...51,336,090
Ensembl chr17:51,290,202...51,336,089

G

T-cell immune regulator 1, ATPase H+ transporting V0 subunit A3

ClinVar Annotator: match by term: Osteosclerosis

PMID:22231430 PMID:24033266 PMID:25741868 PMID:26264438 PMID:28492532

NCBI chr 1:201,127,034...201,138,787
Ensembl chr 1:201,127,034...201,138,742

G

TNF receptor superfamily member 11A

ClinVar Annotator: match by term: Osteosclerosis

PMID:24033266 PMID:25741868 PMID:28492532

NCBI chr13:21,928,370...21,986,719
Ensembl chr13:21,928,408...21,986,695

G

TNF superfamily member 11

ClinVar Annotator: match by term: Osteosclerosis

PMID:20499338 PMID:21541994 PMID:25741868 PMID:28492532

NCBI chr15:53,673,850...53,705,325
Ensembl chr15:53,673,877...53,705,445

osteosclerotic metaphyseal dysplasia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

leucine-rich repeat kinase 1

ClinVar Annotator: match by term: LRRK1-related condition | ClinVar Annotator: match by term: Osteosclerotic metaphyseal dysplasia

PMID:8255649 PMID:25741868 PMID:27055475 PMID:27829680 PMID:28492532 More...

NCBI chr 1:119,844,360...119,972,885
Ensembl chr 1:119,845,146...119,979,734

Paget's disease of bone

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

colony stimulating factor 1

CTD Direct Evidence: marker/mechanism

NCBI chr 2:195,377,215...195,396,608
Ensembl chr 2:195,377,215...195,411,704

G

dendrocyte expressed seven transmembrane protein

CTD Direct Evidence: marker/mechanism

NCBI chr 7:70,807,455...70,822,067
Ensembl chr 7:70,807,581...70,822,078

G

dedicator of cytokinesis 6

ClinVar Annotator: match by term: Bone Paget disease

PMID:25741868 PMID:28492532

NCBI chr 8:20,342,430...20,394,660
Ensembl chr 8:20,342,089...20,394,552

G

inositol polyphosphate-5-phosphatase D

OMIM:167250 | OMIM:602080 | OMIM:606263

NCBI chr 9:88,287,680...88,392,748
Ensembl chr 9:88,287,677...88,392,746

G

MRN complex interacting protein

ClinVar Annotator: match by term: Bone Paget disease

NCBI chr10:34,501,359...34,525,474
Ensembl chr10:34,501,384...34,525,469

G

nucleoporin 205

CTD Direct Evidence: marker/mechanism

NCBI chr 4:63,854,934...63,920,852
Ensembl chr 4:63,854,783...63,920,844

G

optineurin

DNA:SNP: :rs1561570 (human)
CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:20436471 PMID:21059646 PMID:20436471

NCBI chr17:73,209,572...73,260,251
Ensembl chr17:73,209,575...73,260,251

G

PML nuclear body scaffold

CTD Direct Evidence: marker/mechanism

NCBI chr 8:58,627,347...58,661,927
Ensembl chr 8:58,628,837...58,658,971

G

Ras and Rab interactor 3

CTD Direct Evidence: marker/mechanism

NCBI chr 6:121,431,776...121,540,956
Ensembl chr 6:121,431,339...121,540,957

G

sequestosome 1

DNA:point mutation: :p.P392L (human)
ClinVar Annotator: match by term: Bone Paget disease | ClinVar Annotator: match by term: Paget disease of bone, familial
CTD Direct Evidence: marker/mechanism

ClinVar
MouseDO
CTD
RGD

PMID:11473345 PMID:11992264 PMID:15125799 PMID:15176995 PMID:15493999 More...

NCBI chr10:34,525,517...34,536,670
Ensembl chr10:34,525,519...34,536,673

G

TNF receptor superfamily member 11A

Paget disease of bone, OMIM:602080
ClinVar Annotator: match by term: Bone Paget disease | ClinVar Annotator: match by term: Paget disease of bone
CTD Direct Evidence: marker/mechanism

MouseDO
ClinVar
CTD
RGD

PMID:20436471 PMID:24033266 PMID:25741868 PMID:28492532 PMID:10615125

NCBI chr13:21,928,370...21,986,719
Ensembl chr13:21,928,408...21,986,695

G

TNF receptor superfamily member 11B

susceptibility

DNA:deletion:exon

RGD

NCBI chr 7:85,566,520...85,594,526
Ensembl chr 7:85,566,520...85,594,538

G

valosin-containing protein

IBMPFD, OMIM:167320

RGD

NCBI chr 5:57,210,167...57,229,571
Ensembl chr 5:57,210,168...57,229,571

G

zinc finger protein 687

CTD Direct Evidence: marker/mechanism

NCBI chr 2:182,572,893...182,581,641
Ensembl chr 2:182,572,662...182,583,647

Paget's disease of bone 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

sequestosome 1

ClinVar Annotator: match by term: Paget disease of bone 2 | ClinVar Annotator: match by term: Paget disease of bone 2, early-onset

PMID:11473345 PMID:11992264 PMID:15125799 PMID:15146436 PMID:15176995 More...

NCBI chr10:34,525,517...34,536,670
Ensembl chr10:34,525,519...34,536,673

G

TNF receptor superfamily member 11A

ClinVar Annotator: match by term: Paget disease of bone 2 | ClinVar Annotator: match by term: Paget disease of bone 2, early-onset

PMID:9536098 PMID:10615125 PMID:11771666 PMID:12568416 PMID:17447113 More...

NCBI chr13:21,928,370...21,986,719
Ensembl chr13:21,928,408...21,986,695

Paget's disease of bone 3

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

MRN complex interacting protein

ClinVar Annotator: match by term: Paget disease of bone 3

NCBI chr10:34,501,359...34,525,474
Ensembl chr10:34,501,384...34,525,469

G

sequestosome 1

ClinVar Annotator: match by term: Paget disease of bone 3

PMID:11473345 PMID:11992264 PMID:12374763 PMID:15125799 PMID:15176995 More...

NCBI chr10:34,525,517...34,536,670
Ensembl chr10:34,525,519...34,536,673

Paget's disease of bone 5

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

collectin subfamily member 10

ClinVar Annotator: match by term: Hyperphosphatasemia with bone disease

PMID:106682 PMID:12124406

NCBI chr 7:85,744,895...85,806,368
Ensembl chr 7:85,744,895...85,805,675

G

TNF receptor superfamily member 11B

ClinVar Annotator: match by term: Hyperphosphatasemia with bone disease | ClinVar Annotator: match by term: Paget disease of bone 5
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:106682 PMID:12124406 PMID:12189164 PMID:14672344 PMID:19436932 More...

NCBI chr 7:85,566,520...85,594,526
Ensembl chr 7:85,566,520...85,594,538

Paget's disease of bone 6

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

zinc finger protein 687

ClinVar Annotator: match by term: Paget disease of bone 6

PMID:15123951 PMID:22936311 PMID:25741868 PMID:26849110 PMID:28492532 More...

NCBI chr 2:182,572,893...182,581,641
Ensembl chr 2:182,572,662...182,583,647

Penttinen-Aula Syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

platelet derived growth factor receptor beta

ClinVar Annotator: match by term: Premature aging syndrome, Penttinen type
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:9056558 PMID:9536098 PMID:15054839 PMID:16199547 PMID:17576681 More...

NCBI chr18:54,499,962...54,538,840
Ensembl chr18:54,499,964...54,538,843

Postmenopausal Osteoporosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

acid phosphatase 5, tartrate resistant

protein:increased expression:femur (rat)

RGD

NCBI chr 8:20,663,984...20,670,604
Ensembl chr 8:20,663,985...20,667,929

G

androgen receptor

RGD

NCBI chr X:63,104,771...63,273,934
Ensembl chr X:63,104,771...63,273,925

G

bone morphogenetic protein 15

susceptibility

DNA:SNPs, haplotype:5' utr, intron:g.-9C>G, IVS1+905A>G (human)

RGD

NCBI chr X:16,169,123...16,174,187
Ensembl chr X:16,169,123...16,174,187

G

catalase

CTD Direct Evidence: marker/mechanism

NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478

G

collagen type I alpha 1 chain

ClinVar Annotator: match by term: Postmenopausal osteoporosis

PMID:2037280 PMID:2542316 PMID:7695699 PMID:7942841 PMID:8218237 More...

NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624

G

collagen type I alpha 2 chain

ClinVar Annotator: match by term: Postmenopausal osteoporosis

PMID:1463018 PMID:1978725 PMID:2052622 PMID:2985635 PMID:7695699 More...

NCBI chr 4:32,563,938...32,598,868
Ensembl chr 4:32,563,381...32,598,867

G

cytochrome P450, family 19, subfamily a, polypeptide 1

DNA:snps:exon:multiple (human)

RGD

NCBI chr 8:54,552,978...54,580,375
Ensembl chr 8:54,553,165...54,580,758

G

estrogen receptor 1

treatment
susceptibility

DNA:SNP:intron:IVS1T>C (human)
DNA:SNPs, haplotype:intron: (rs2234693, rs9340799) (human)

RGD

PMID:16604479 PMID:16972020

RGD:8158082, RGD:10045838

NCBI chr 1:41,106,335...41,499,104
Ensembl chr 1:41,210,475...41,495,002

G

estrogen receptor 2

susceptibility

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 6:94,858,438...94,909,630
Ensembl chr 6:94,809,547...94,908,919

G

farnesyl diphosphate synthase

CTD Direct Evidence: marker/mechanism

NCBI chr 2:174,497,402...174,507,031
Ensembl chr 2:174,486,665...174,507,776

G

fibroblast growth factor 23

protein:increased expression: :

RGD

NCBI chr 4:159,914,267...159,923,821
Ensembl chr 4:159,914,272...159,923,821

G

hypoxia inducible factor 1 subunit alpha

treatment

RGD

PMID:24023068 PMID:18067744

RGD:10402191, RGD:10402540

NCBI chr 6:92,624,059...92,669,262
Ensembl chr 6:92,624,390...92,669,261

G

interferon induced transmembrane protein 5

ClinVar Annotator: match by term: Postmenopausal osteoporosis

PMID:22863190 PMID:22863195 PMID:23977282 PMID:25251575 PMID:25741868 More...

NCBI chr 1:196,045,836...196,052,554
Ensembl chr 1:196,045,666...196,047,232

G

insulin-like growth factor 1

protein:decreased expression:serum:

RGD

NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296

G

insulin-like growth factor 2

treatment

RGD

NCBI chr 1:197,814,409...197,831,802
Ensembl chr 1:197,814,410...197,823,018

G

interleukin 1 beta

CTD Direct Evidence: marker/mechanism

NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415

G

interleukin 6

CTD Direct Evidence: marker/mechanism

NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178

G

interleukin 7

treatment

RGD

NCBI chr 2:94,235,219...94,280,075
Ensembl chr 2:94,234,766...94,280,075

G

LDL receptor related protein 5

ClinVar Annotator: match by term: Postmenopausal osteoporosis

PMID:24715757 PMID:25741868 PMID:28492532

NCBI chr 1:200,814,247...200,917,581
Ensembl chr 1:200,814,250...200,917,581

G

nuclear factor of activated T-cells 1

treatment

RGD

NCBI chr18:74,046,422...74,156,041
Ensembl chr18:74,046,904...74,156,028

G

nuclear receptor interacting protein 1

susceptibility

DNA:silent mutation:cds:p.G75G (human)

RGD

NCBI chr11:14,895,843...14,979,490
Ensembl chr11:14,895,553...14,981,761

G

protein-glucosylgalactosylhydroxylysine glucosidase

ClinVar Annotator: match by term: Postmenopausal osteoporosis

PMID:22863190 PMID:22863195 PMID:23977282 PMID:25251575 PMID:25741868 More...

NCBI chr 1:196,038,276...196,044,561
Ensembl chr 1:196,039,103...196,044,372

G

plastin 3

ClinVar Annotator: match by term: Postmenopausal osteoporosis

NCBI chr X:111,589,193...111,683,908
Ensembl chr X:111,589,254...111,683,891

G

prostaglandin E receptor 4

treatment

RGD

NCBI chr 2:54,330,563...54,347,451
Ensembl chr 2:54,335,424...54,346,670

G

parathyroid hormone

CTD Direct Evidence: therapeutic

NCBI chr 1:167,508,121...167,511,530
Ensembl chr 1:167,508,598...167,511,530

G

protein tyrosine kinase 2 beta

RGD

NCBI chr15:40,360,722...40,481,235
Ensembl chr15:40,360,723...40,481,282

G

transforming growth factor, beta 1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847

G

tumor necrosis factor

CTD Direct Evidence: marker/mechanism

NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629

G

vitamin D receptor

treatment

DNA:SNP:exon: (rs2228570) (human)

GAD
RGD

PMID:15118671 PMID:16604479

RGD:1331525, RGD:8158082

NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677

Progressive Diaphyseal Dysplasia 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

transforming growth factor, beta 1

ClinVar Annotator: match by term: Diaphyseal dysplasia 1, progressive

PMID:16207846 PMID:17293864 PMID:18292811 PMID:18424453 PMID:25741868 More...

NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847

Raine Syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

FAM20C, golgi associated secretory pathway kinase

ClinVar Annotator: match by term: FAM20C-related condition | ClinVar Annotator: match by term: Lethal osteosclerotic bone dysplasia
CTD Direct Evidence: marker/mechanism
DNA:deletion, snps, missense mutations:multiple (human)

OMIM
ClinVar
CTD
RGD

PMID:2020859 PMID:12868469 PMID:14564151 PMID:17924334 PMID:19250384 More...

NCBI chr12:15,826,864...15,885,423
Ensembl chr12:15,826,871...15,884,543

renal osteodystrophy

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

parathyroid hormone

associated with Kidney Failure, Chronic; protein:decreased expression:serum (human)

RGD

NCBI chr 1:167,508,121...167,511,530
Ensembl chr 1:167,508,598...167,511,530

rickets

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

calcium-sensing receptor

RGD

NCBI chr11:64,235,251...64,304,811
Ensembl chr11:64,235,251...64,304,811

G

cytochrome P450, family 27, subfamily b, polypeptide 1

vitamin D-dependent rickets type I, OMIM:264700;DNA:missense mutations: :R107H, G125E, R335P, P382S
CTD Direct Evidence: marker/mechanism

MouseDO
CTD
RGD

PMID:16494812 PMID:9486994 PMID:11416220

RGD:1600874, RGD:734871

NCBI chr 7:62,869,340...62,876,242
Ensembl chr 7:62,871,297...62,876,241

G

FAM20C, golgi associated secretory pathway kinase

OMIM:264700 | OMIM:277440 | OMIM:600081 | OMIM:600785

NCBI chr12:15,826,864...15,885,423
Ensembl chr12:15,826,871...15,884,543

G

parathyroid hormone

CTD Direct Evidence: marker/mechanism

NCBI chr 1:167,508,121...167,511,530
Ensembl chr 1:167,508,598...167,511,530

G

parathyroid hormone 1 receptor

CTD Direct Evidence: marker/mechanism

NCBI chr 8:110,693,910...110,725,458
Ensembl chr 8:110,697,485...110,719,729

G

vitamin D receptor

VDDR II,OMIM:277440;DNA:point mutation:exon:p.G33D, p.R70G (human)
CTD Direct Evidence: marker/mechanism

MouseDO
CTD
RGD

PMID:1338926 PMID:17451081 PMID:22466564 PMID:2849209

NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677

Schwartz-Lelek Syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

gap junction protein, alpha 1

DNA:missense mutation: :c.716G>A (p.R239Q) (human)

RGD

NCBI chr20:35,756,007...35,768,481
Ensembl chr20:35,755,991...35,768,582

sclerosteosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

LDL receptor related protein 4

CTD Direct Evidence: marker/mechanism

NCBI chr 3:77,429,600...77,483,593
Ensembl chr 3:77,429,798...77,483,593

G

sclerostin

DNA:transition: :69C>T (human)
CTD Direct Evidence: marker/mechanism

CTD
RGD

NCBI chr10:86,912,517...86,915,561
Ensembl chr10:86,911,517...86,915,561

sclerosteosis 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

sclerostin

ClinVar Annotator: match by term: SOST-related condition | ClinVar Annotator: match by term: Sclerosteosis 1
OMIM:269500

OMIM
ClinVar
MouseDO

PMID:11179006 PMID:11181578 PMID:19072561 PMID:21221996 PMID:25741868 More...

NCBI chr10:86,912,517...86,915,561
Ensembl chr10:86,911,517...86,915,561

sclerosteosis 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

LDL receptor related protein 4

OMIM:614305
ClinVar Annotator: match by term: Sclerosteosis 2

OMIM
MouseDO
ClinVar

PMID:7891385 PMID:11385236 PMID:21471202 PMID:24234652 PMID:25741868 More...

NCBI chr 3:77,429,600...77,483,593
Ensembl chr 3:77,429,798...77,483,593

Singleton Merten Syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

interferon induced with helicase C domain 1

CTD Direct Evidence: marker/mechanism

NCBI chr 3:47,228,980...47,275,403
Ensembl chr 3:47,227,364...47,275,456

Singleton-Merten Syndrome 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

interferon induced with helicase C domain 1

ClinVar Annotator: match by term: Singleton-Merten syndrome 1

PMID:9536098 PMID:16199547 PMID:17576681 PMID:21070929 PMID:24686847 More...

NCBI chr 3:47,228,980...47,275,403
Ensembl chr 3:47,227,364...47,275,456

Singleton-Merten Syndrome 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

RNA sensor RIG-1

ClinVar Annotator: match by term: Singleton-Merten syndrome 2

PMID:25620203 PMID:25741868 PMID:28180316 PMID:28492532

NCBI chr 5:55,321,351...55,369,947
Ensembl chr 5:55,321,235...55,370,819

SOST-related sclerosing bone dysplasia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ganglioside-induced differentiation-associated-protein 1

ClinVar Annotator: match by term: Elevated alkaline phosphatase

PMID:14561495 PMID:17039978 PMID:17433678 PMID:18504680 PMID:18991200 More...

NCBI chr 5:1,932,613...1,951,691
Ensembl chr 5:1,932,613...2,030,061

G

phosphatidylinositol glycan anchor biosynthesis, class V

ClinVar Annotator: match by term: Elevated alkaline phosphatase

NCBI chr 5:145,889,642...145,901,533
Ensembl chr 5:145,889,646...145,901,533

G

sclerostin

OMIM:239100

NCBI chr10:86,912,517...86,915,561
Ensembl chr10:86,911,517...86,915,561

Stuve-Wiedemann Syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

heparan sulfate proteoglycan 2

ClinVar Annotator: match by term: Stuve-Wiedemann syndrome

PMID:25741868 PMID:28492532

NCBI chr 5:149,677,437...149,778,594
Ensembl chr 5:149,677,476...149,778,594

G

interleukin 6 cytokine family signal transducer

ClinVar Annotator: match by term: Stuve-Wiedemann syndrome

PMID:25741868 PMID:31914175

NCBI chr 2:44,065,979...44,106,255
Ensembl chr 2:44,066,130...44,109,936

G

LIF receptor subunit alpha

ClinVar Annotator: match by term: Stuve-Wiedemann syndrome

PMID:9536098 PMID:14740318 PMID:16199547 PMID:17576681 PMID:19371797 More...

NCBI chr 2:56,224,393...56,292,988
Ensembl chr 2:56,250,120...56,286,699

Stuve-Wiedemann Syndrome 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

heparan sulfate proteoglycan 2

ClinVar Annotator: match by term: Stüve-Wiedemann syndrome

PMID:25741868 PMID:28492532

NCBI chr 5:149,677,437...149,778,594
Ensembl chr 5:149,677,476...149,778,594

G

LIF receptor subunit alpha

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Stüve-Wiedemann syndrome 1
ClinVar Annotator: match by term: Stüve-Wiedemann syndrome | ClinVar Annotator: match by term: Stüve-Wiedemann syndrome 1

OMIM
CTD
ClinVar

PMID:9536098 PMID:14740318 PMID:16199547 PMID:17576681 PMID:19371797 More...

NCBI chr 2:56,224,393...56,292,988
Ensembl chr 2:56,250,120...56,286,699

Stuve-Wiedemann Syndrome 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

centrosomal protein 290

ClinVar Annotator: match by term: Stuve-Wiedemann syndrome 2

PMID:25741868 PMID:28492532

NCBI chr 7:35,310,071...35,399,388
Ensembl chr 7:35,310,199...35,399,392

G

ciliary microtubule inner protein 2B

ClinVar Annotator: match by term: Stuve-Wiedemann syndrome 2

PMID:25741868 PMID:28492532

NCBI chr 5:57,675,537...57,680,133
Ensembl chr 5:57,675,462...57,678,611

G

interleukin 6 cytokine family signal transducer

ClinVar Annotator: match by term: Stuve-Wiedemann syndrome 2

PMID:25741868 PMID:28492532 PMID:31914175

NCBI chr 2:44,065,979...44,106,255
Ensembl chr 2:44,066,130...44,109,936

G

RUN and SH3 domain containing 2

ClinVar Annotator: match by term: Stuve-Wiedemann syndrome 2

PMID:25741868 PMID:28492532

NCBI chr 5:57,628,397...57,675,524
Ensembl chr 5:57,629,904...57,675,524

vitamin D-dependent rickets

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

cytochrome P450, family 27, subfamily b, polypeptide 1

ClinVar Annotator: match by term: Vitamin D-dependent rickets

NCBI chr 7:62,869,340...62,876,242
Ensembl chr 7:62,871,297...62,876,241

G

vitamin D receptor

ClinVar Annotator: match by term: Vitamin D-dependent rickets

PMID:25741868 PMID:28492532

NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677

vitamin D-dependent rickets type 1A

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

cytochrome P450, family 27, subfamily b, polypeptide 1

treatment

ClinVar Annotator: match by term: CYP27B1-related condition | ClinVar Annotator: match by term: VITAMIN D DEPENDENCY, TYPE 1 | ClinVar Annotator: match by term: Vitamin D-dependent rickets, type 1A
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD
RGD

PMID:9415400 PMID:9486994 PMID:9837822 PMID:10518789 PMID:10566658 More...

NCBI chr 7:62,869,340...62,876,242
Ensembl chr 7:62,871,297...62,876,241

G

Cyp27b1^em1Thka

cytochrome P450, family 27, subfamily b, polypeptide 1; CRISPR/Cas9 induced mutant 1, Thka

treatment

RGD

G

cytochrome P450, family 2, subfamily r, polypeptide 1

ClinVar Annotator: match by term: VITAMIN D DEPENDENCY, TYPE 1

PMID:8201479 PMID:10969262 PMID:15128933 PMID:16549493 PMID:25741868 More...

NCBI chr 1:168,749,302...168,798,079
Ensembl chr 1:168,751,038...168,797,759

vitamin D-dependent rickets type 1B

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

cytochrome P450, family 2, subfamily r, polypeptide 1

ClinVar Annotator: match by term: VITAMIN D-DEPENDENT RICKETS, TYPE 1B | ClinVar Annotator: match by term: Vitamin D hydroxylation-deficient rickets, type 1B
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:8201479 PMID:10969262 PMID:15128933 PMID:16549493 PMID:22855339 More...

NCBI chr 1:168,749,302...168,798,079
Ensembl chr 1:168,751,038...168,797,759

vitamin D-dependent rickets type 2A

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

phytanoyl-CoA 2-hydroxylase

ClinVar Annotator: match by term: VITAMIN D-RESISTANT RICKETS WITH END-ORGAN UNRESPONSIVENESS TO 1,25-DIHYDROXYCHOLECALCIFEROL

PMID:10767344 PMID:14974078 PMID:16186124 PMID:25741868 PMID:27229527 More...

NCBI chr17:73,329,461...73,346,359
Ensembl chr17:73,329,082...73,346,409

G

serine protease 1

ClinVar Annotator: match by term: Vitamin D-dependent rickets, type 2A

PMID:2539344 PMID:6023921 PMID:9322498 PMID:9557894 PMID:9633818 More...

NCBI chr 4:70,364,589...70,367,792
Ensembl chr 4:70,364,586...70,367,792

G

vitamin D receptor

treatment

ClinVar Annotator: match by term: GENERALIZED RESISTANCE TO 1,25-DIHYDROXYVITAMIN D | ClinVar Annotator: match by term: PDDR IIA | ClinVar Annotator: match by term: PSEUDOVITAMIN D-DEFICIENCY, TYPE IIA | ClinVar Annotator: match by term: VITAMIN D-DEPENDENT RICKETS, TYPE 2A, WITH OR WITHOUT ALOPECIA | ClinVar Annotator: match by term: VITAMIN D-RESISTANT RICKETS WITH END-ORGAN UNRESPONSIVENESS TO 1,25-DIHYDROXYCHOLECALCIFEROL | ClinVar Annotator: match by term: Vitamin D-dependent rickets, type 2A
CTD Direct Evidence: marker/mechanism
DNA:missense mutations:cds:
DNA:missense mutation:cds:P.K45E(human)
DNA:missense mutations,nonsense mutation:exon,splice junction:

OMIM
ClinVar
CTD
RGD

PMID:1652893 PMID:2174914 PMID:2177843 PMID:2557627 PMID:2558018 More...

RGD:32716373, RGD:13432060, RGD:13210792, RGD:13210780, RGD:13210778, RGD:8158074

NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677

G

vitamin D receptor; CRISPR/Cas9 induced mutant 1, Thka

treatment

RGD

G

vitamin D receptor; CRISPR/Cas9 induced mutant 2, Thka

treatment

compared to untreated vdr KO

RGD

VITAMIN D-DEPENDENT RICKETS, TYPE 3

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

cytochrome P450, family 3, subfamily a, polypeptide 2

ClinVar Annotator: match by term: Vitamin D-dependent rickets, type 3

NCBI chr12:9,207,978...9,230,064
Ensembl chr12:9,015,383...9,285,008

Warburg-Cinotti Syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

discoidin domain receptor tyrosine kinase 2

ClinVar Annotator: match by term: Warburg-cinotti syndrome

PMID:9536098 PMID:17103436 PMID:17576681 PMID:23637089 PMID:25741868 More...

NCBI chr13:82,193,623...82,318,229
Ensembl chr13:82,195,463...82,317,363

Winchester syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

lysophosphatidylcholine acyltransferase 2

ClinVar Annotator: match by term: Winchester-Grossman syndrome

NCBI chr19:14,088,389...14,152,742
Ensembl chr19:14,089,686...14,152,829

G

matrix metallopeptidase 14

ClinVar Annotator: match by term: Winchester syndrome
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:4238825 PMID:17480005 PMID:22922033 PMID:25741868 PMID:29741626

NCBI chr15:27,887,795...27,897,020
Ensembl chr15:27,887,727...27,899,864

G

matrix metallopeptidase 2

ClinVar Annotator: match by term: Winchester-Grossman syndrome

PMID:2625626 PMID:6525336 PMID:9536098 PMID:10356396 PMID:11431697 More...

NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870

Worth syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

LDL receptor related protein 5

ClinVar Annotator: match by term: Endosteal hyperostosis, autosomal dominant | ClinVar Annotator: match by term: Osteosclerosis autosomal dominant Worth type | ClinVar Annotator: match by term: Osteosclerosis of the skull and enlarged mandible | ClinVar Annotator: match by term: Worth disease
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:1002767 PMID:9536098 PMID:10434540 PMID:11701785 PMID:11719191 More...

NCBI chr 1:200,814,247...200,917,581
Ensembl chr 1:200,814,250...200,917,581

X-linked dominant hypophosphatemic rickets

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

bone gamma-carboxyglutamate protein

mRNA:increased expression:long bone

RGD

NCBI chr 2:173,838,518...173,839,495
Ensembl chr 2:173,838,518...173,839,495

G

FAM20C, golgi associated secretory pathway kinase

mRNA:increased expression:long bone, osteoblast, osteocyte (mouse)

RGD

NCBI chr12:15,826,864...15,885,423
Ensembl chr12:15,826,871...15,884,543

G

phosphate regulating endopeptidase X-linked

ClinVar Annotator: match by term: Familial X-linked hypophosphatemic vitamin D refractory rickets | ClinVar Annotator: match by term: PHEX-related condition | ClinVar Annotator: match by term: Vitamin D-resistant rickets, X-linked
OMIM:307800
DNA:mutation:exon:p.K496X(mouse)
DNA:deletions:3'UTR,promoter,exons:
DNA:mutations:cds,splice junction:
DNA:deletion,mutations:exon,splice junction:

OMIM
ClinVar
MouseDO
RGD

PMID:188828 PMID:2589938 PMID:3394683 PMID:7550339 PMID:9097956 More...

RGD:7207229, RGD:11556248, RGD:11556247, RGD:11556246

NCBI chr X:37,607,553...37,856,183
Ensembl chr X:37,610,760...37,854,469

X-linked recessive hypophosphatemic rickets

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

chloride voltage-gated channel 5

ClinVar Annotator: match by term: Hypophosphatemic rickets, X-linked recessive

PMID:7915957 PMID:8559248 PMID:9187673 PMID:9734595 PMID:11136179 More...

NCBI chr X:15,185,380...15,339,977
Ensembl chr X:15,185,451...15,334,264

Term paths to the root

Path 1
Term	Annotations
disease	18976
disease of anatomical entity	18260
musculoskeletal system disease	8304
bone disease	4302
bone remodeling disease	495
bone resorption disease +	375
fibrous dysplasia	0
hyperostosis +	62
osteomalacia +	3
osteosclerosis +	59
rickets +	29
Path 2
Term	Annotations
disease	18976
disease of anatomical entity	18260
musculoskeletal system disease	8304
connective tissue disease	5786
bone disease	4302
bone remodeling disease	495
bone resorption disease +	375
fibrous dysplasia	0
hyperostosis +	62
osteomalacia +	3
osteosclerosis +	59
rickets +	29

paths to the root