cartilage 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:	cartilage disease	go back to main search page
Accession:	DOID:1222	browse the term
Definition:	A connective tissue disease that is located_in cartilage. (DO)
Synonyms:	exact_synonym:	cartilage diseases; cartilage disorder; chondropathy
	primary_id:	MESH:D002357
	xref:	EFO:0005802; ICD10CM:M94.9
For additional species annotation, visit the Alliance of Genome Resources.

show annotations for term's descendants Sort by:
Rat (880) Mouse (884) Human (44647) Chinchilla (846) Bonobo (890) Dog (882) Squirrel (851) Pig (871) Green Monkey (875) Naked Mole-rat (845) All
Genes (871)

cartilage disease

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

bone morphogenetic protein 4

treatment

NCBI chr 1:183,415,989...183,422,888
Ensembl chr 1:183,416,146...183,422,637

G

collagen type XI alpha 2 chain

CTD Direct Evidence: marker/mechanism

NCBI chr 7:25,204,496...25,234,880
Ensembl chr 7:25,204,491...25,234,888

G

collagen type II alpha 1 chain

CTD Direct Evidence: marker/mechanism

NCBI chr 5:78,350,131...78,380,893
Ensembl chr 5:78,350,137...78,380,718

G

endothelin 1

CTD Direct Evidence: marker/mechanism

NCBI chr 7:8,752,018...8,758,354
Ensembl chr 7:8,751,695...8,758,348

G

fibroblast growth factor 14

CTD Direct Evidence: marker/mechanism

NCBI chr11:70,251,374...70,861,941
Ensembl chr11:70,251,446...70,422,192

G

GATA binding protein 2

CTD Direct Evidence: marker/mechanism

NCBI chr13:71,981,139...71,997,626
Ensembl chr13:71,984,067...71,997,619

G

metallothionein-2A

Auricular Chondritis; mRNA:increased expression:ear (mouse)

NCBI chr 6:18,645,125...18,646,034
Ensembl chr 6:18,645,153...18,646,033

G

natriuretic peptide C

CTD Direct Evidence: marker/mechanism

NCBI chr15:132,504,669...132,509,688
Ensembl chr15:132,506,474...132,509,673

acheiropody

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

limb development membrane protein 1

ClinVar Annotator: match by term: Acheiropodia

PMID:11090342 PMID:33863876

NCBI chr18:1,795,462...1,934,951
Ensembl chr18:1,795,497...1,934,947

achondrogenesis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

solute carrier family 26 member 2

ClinVar Annotator: match by term: Achondrogenesis

NCBI chr 2:150,996,868...151,027,483
Ensembl chr 2:150,996,686...151,022,148

G

thyroid hormone receptor interactor 11

ClinVar Annotator: match by term: Achondrogenesis

NCBI chr 7:113,524,406...113,600,411
Ensembl chr 7:113,524,430...113,600,088

achondrogenesis type IA

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ankyrin repeat and SOCS box containing 2

ClinVar Annotator: match by term: Achondrogenesis, type IA

NCBI chr 7:115,210,885...115,258,863
Ensembl chr 7:115,210,891...115,258,960

G

ataxin 3

ClinVar Annotator: match by term: Achondrogenesis, type IA

NCBI chr 7:113,611,566...113,645,835
Ensembl chr 7:113,608,783...113,645,841

G

BTB domain containing 7

ClinVar Annotator: match by term: Achondrogenesis, type IA

NCBI chr 7:114,617,489...114,707,056
Ensembl chr 7:114,617,508...114,707,095

G

calmodulin 1

ClinVar Annotator: match by term: Achondrogenesis, type IA

NCBI chr 7:112,160,823...112,171,754
Ensembl chr 7:112,160,806...112,171,744

G

cation channel sperm associated auxiliary subunit beta

ClinVar Annotator: match by term: Achondrogenesis, type IA

NCBI chr 7:113,201,785...113,293,597
Ensembl chr 7:113,201,004...113,297,405

G

coiled-coil domain containing 88C

ClinVar Annotator: match by term: Achondrogenesis, type IA

NCBI chr 7:112,917,436...113,030,442
Ensembl chr 7:112,917,534...113,045,682

G

chromogranin A

ClinVar Annotator: match by term: Achondrogenesis, type IA

NCBI chr 7:114,345,542...114,357,799
Ensembl chr 7:114,345,305...114,358,075

G

cleavage and polyadenylation specific factor 2

ClinVar Annotator: match by term: Achondrogenesis, type IA

NCBI chr 7:113,659,903...113,690,524
Ensembl chr 7:113,659,905...113,693,764

G

DEAD-box helicase 24

ClinVar Annotator: match by term: Achondrogenesis, type IA

NCBI chr 7:115,328,122...115,347,355
Ensembl chr 7:115,328,121...115,352,929

G

D-glutamate cyclase

ClinVar Annotator: match by term: Achondrogenesis, type IA

NCBI chr 7:112,753,719...112,862,247

G

family with sequence similarity 181 member A

ClinVar Annotator: match by term: Achondrogenesis, type IA

NCBI chr 7:115,204,147...115,208,845

G

fibulin 5

ClinVar Annotator: match by term: Achondrogenesis, type IA

NCBI chr 7:113,423,629...113,526,412
Ensembl chr 7:113,423,632...113,512,198

G

golgin A5

ClinVar Annotator: match by term: Achondrogenesis, type IA

NCBI chr 7:114,237,059...114,273,916
Ensembl chr 7:114,237,145...114,273,915

G

GON7 subunit of KEOPS complex

ClinVar Annotator: match by term: Achondrogenesis, type IA

NCBI chr 7:114,586,306...114,590,804
Ensembl chr 7:114,585,474...114,590,787

G

G protein-coupled receptor 68

ClinVar Annotator: match by term: Achondrogenesis, type IA

NCBI chr 7:112,885,160...112,904,214
Ensembl chr 7:112,885,163...112,904,246

G

putative ISG12(a) protein

ClinVar Annotator: match by term: Achondrogenesis, type IA

NCBI chr 7:115,356,619...115,361,537
Ensembl chr 7:115,356,517...115,361,538

G

inositol-tetrakisphosphate 1-kinase

ClinVar Annotator: match by term: Achondrogenesis, type IA

NCBI chr 7:114,361,976...114,520,805
Ensembl chr 7:114,361,968...114,520,793

G

potassium two pore domain channel subfamily K member 13

ClinVar Annotator: match by term: Achondrogenesis, type IA

NCBI chr 7:111,866,471...111,981,304
Ensembl chr 7:111,867,546...111,980,663

G

legumain

ClinVar Annotator: match by term: Achondrogenesis, type IA

NCBI chr 7:114,176,217...114,210,096
Ensembl chr 7:114,173,693...114,217,102

G

interferon alpha-inducible protein 27-like protein 2

ClinVar Annotator: match by term: Achondrogenesis, type IA

NCBI chr 7:115,363,649...115,370,861

G

cytochrome c oxidase subunit 8C, mitochondrial

ClinVar Annotator: match by term: Achondrogenesis, type IA

NCBI chr 7:114,727,841...114,729,102

G

lysosomal enzyme trafficking factor

ClinVar Annotator: match by term: Achondrogenesis, type IA

NCBI chr 7:114,574,393...114,575,887
Ensembl chr 7:114,574,139...114,575,883

G

modulator of apoptosis 1

ClinVar Annotator: match by term: Achondrogenesis, type IA

NCBI chr 7:114,571,624...114,574,052

G

NADH:ubiquinone oxidoreductase subunit B1

ClinVar Annotator: match by term: Achondrogenesis, type IA

NCBI chr 7:113,652,772...113,659,937
Ensembl chr 7:113,652,776...113,659,672

G

NRDE-2, necessary for RNA interference, domain containing

ClinVar Annotator: match by term: Achondrogenesis, type IA

NCBI chr 7:112,039,949...112,090,632
Ensembl chr 7:112,038,234...112,090,510

G

OTU deubiquitinase, ubiquitin aldehyde binding 2

ClinVar Annotator: match by term: Achondrogenesis, type IA

NCBI chr 7:115,304,809...115,326,055
Ensembl chr 7:115,304,871...115,327,054

G

protein phosphatase 4 regulatory subunit 3A

ClinVar Annotator: match by term: Achondrogenesis, type IA

NCBI chr 7:113,111,305...113,148,988
Ensembl chr 7:113,111,332...113,148,954

G

protein phosphatase 4 regulatory subunit 4

ClinVar Annotator: match by term: Achondrogenesis, type IA

NCBI chr 7:115,412,457...115,523,232
Ensembl chr 7:115,412,449...115,522,686

G

proline rich membrane anchor 1

ClinVar Annotator: match by term: Achondrogenesis, type IA

NCBI chr 7:115,038,626...115,101,431
Ensembl chr 7:115,038,630...115,100,756

G

proteasome 26S subunit, ATPase 1

ClinVar Annotator: match by term: Achondrogenesis, type IA

NCBI chr 7:112,027,904...112,041,360
Ensembl chr 7:112,027,921...112,041,489

G

Ras and Rab interactor 3

ClinVar Annotator: match by term: Achondrogenesis, type IA

NCBI chr 7:114,035,137...114,166,548
Ensembl chr 7:114,035,353...114,166,539

G

ribosomal protein S6 kinase A5

ClinVar Annotator: match by term: Achondrogenesis, type IA

NCBI chr 7:112,561,985...112,753,666
Ensembl chr 7:112,561,988...112,753,564

G

serpin family A member 1

ClinVar Annotator: match by term: Achondrogenesis, type IA

NCBI chr 7:115,604,282...115,616,915
Ensembl chr 7:115,583,043...115,614,645

G

serpin family A member 6

ClinVar Annotator: match by term: Achondrogenesis, type IA

NCBI chr 7:115,535,552...115,554,536
Ensembl chr 7:115,535,697...115,554,570

G

solute carrier family 24 member 4

ClinVar Annotator: match by term: Achondrogenesis, type IA

NCBI chr 7:113,836,207...114,014,952
Ensembl chr 7:113,836,230...114,014,949

G

tandem C2 domains, nuclear

ClinVar Annotator: match by term: Achondrogenesis, type IA

NCBI chr 7:113,337,815...113,389,663
Ensembl chr 7:113,337,035...113,389,588

G

tyrosyl-DNA phosphodiesterase 1

ClinVar Annotator: match by term: Achondrogenesis, type IA

NCBI chr 7:111,767,094...111,853,262
Ensembl chr 7:111,767,089...111,853,249

G

thyroid hormone receptor interactor 11

ClinVar Annotator: match by term: Achondrogenesis Houston-Harris type | ClinVar Annotator: match by term: Achondrogenesis type 1A | ClinVar Annotator: match by term: Achondrogenesis, type IA

PMID:200899 PMID:2008997 PMID:9536098 PMID:16199547 PMID:17576681 More...

NCBI chr 7:113,524,406...113,600,411
Ensembl chr 7:113,524,430...113,600,088

G

tetratricopeptide repeat domain 7B

ClinVar Annotator: match by term: Achondrogenesis, type IA

NCBI chr 7:112,270,161...112,519,123
Ensembl chr 7:112,270,164...112,519,191

G

ubiquitin protein ligase E3 component n-recognin 7

ClinVar Annotator: match by term: Achondrogenesis, type IA

NCBI chr 7:114,590,920...114,609,867
Ensembl chr 7:114,590,945...114,609,858

G

unc-79 homolog, NALCN channel complex subunit

ClinVar Annotator: match by term: Achondrogenesis, type IA

NCBI chr 7:114,766,273...115,028,344
Ensembl chr 7:114,766,489...115,027,711

achondrogenesis type IB

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

solute carrier family 26 member 2

ClinVar Annotator: match by term: Achondrogenesis Fraccaro type | ClinVar Annotator: match by term: Achondrogenesis, type IB

PMID:4644462 PMID:7695699 PMID:7923357 PMID:8218237 PMID:8528239 More...

NCBI chr 2:150,996,868...151,027,483
Ensembl chr 2:150,996,686...151,022,148

achondrogenesis type II

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

collagen type II alpha 1 chain

ClinVar Annotator: match by term: Achondrogenesis type II | ClinVar Annotator: match by term: Chondrogenesis imperfecta

PMID:7695699 PMID:7752132 PMID:7757081 PMID:7829510 PMID:7977371 More...

NCBI chr 5:78,350,131...78,380,893
Ensembl chr 5:78,350,137...78,380,718

achondroplasia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

aggrecan

OMIM:100800

NCBI chr 7:54,449,830...54,520,606
Ensembl chr 7:54,449,816...54,519,194

G

fibrillin 1

ClinVar Annotator: match by term: Achondroplasia

PMID:16571647 PMID:16905551 PMID:17701892 PMID:19349279 PMID:25741868 More...

NCBI chr 1:123,102,011...123,359,649
Ensembl chr 1:123,102,009...123,359,649

G

fibroblast growth factor receptor 3

severity

ClinVar Annotator: match by term: Achondroplasia | ClinVar Annotator: match by term: Skeleton skin brain syndrome
DNA:mutation:cds:p.K650M(human)

OMIM
ClinVar
RGD

PMID:1908846 PMID:4697848 PMID:7647778 PMID:7649548 PMID:7670477 More...

NCBI chr 8:879,151...894,968
Ensembl chr 8:879,159...894,964

G

natriuretic peptide C

OMIM:100800

NCBI chr15:132,504,669...132,509,688
Ensembl chr15:132,506,474...132,509,673

G

natriuretic peptide receptor 2

DNA:missense mutation:cds:p.L885R (mouse)
OMIM:100800

NCBI chr 1:236,508,994...236,529,172
Ensembl chr 1:236,508,998...236,529,128

G

parathyroid hormone like hormone

OMIM:100800

NCBI chr 5:45,750,968...45,763,421
Ensembl chr 5:45,751,292...45,763,415

G

sprouty related EVH1 domain containing 2

OMIM:100800

NCBI chr 3:76,527,646...76,649,652
Ensembl chr 3:76,523,589...76,649,651

Achondroplastic Dwarfism

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

fibroblast growth factor receptor 3

ClinVar Annotator: match by term: Achondroplastic dwarfism

PMID:1908846 PMID:4697848 PMID:7647778 PMID:7649548 PMID:7670477 More...

NCBI chr 8:879,151...894,968
Ensembl chr 8:879,159...894,964

acrocapitofemoral dysplasia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

Indian hedgehog signaling molecule

ClinVar Annotator: match by term: Acrocapitofemoral dysplasia

PMID:12624140 PMID:12632327 PMID:25741868 PMID:28492532 PMID:34530144

NCBI chr15:121,083,750...121,090,548
Ensembl chr15:121,083,753...121,090,121

acrodysostosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

FAM20A golgi associated secretory pathway pseudokinase

ClinVar Annotator: match by term: Acrodysostosis

PMID:25741868 PMID:28492532

NCBI chr12:11,606,469...11,663,086
Ensembl chr12:11,607,034...11,657,737

G

phosphodiesterase 4D

ClinVar Annotator: match by term: Acrodysostosis

PMID:25741868 PMID:28492532

NCBI chr16:37,897,300...39,406,534
Ensembl chr16:37,897,302...39,306,364

G

protein kinase cAMP-dependent type I regulatory subunit alpha

ClinVar Annotator: match by term: Acrodysostosis | ClinVar Annotator: match by term: Peripheral dysostosis-nasal hypoplasia-mental retardation (PNM) syndrome

PMID:11115848 PMID:15371594 PMID:18241045 PMID:19293268 PMID:21651393 More...

NCBI chr12:11,662,344...11,681,490
Ensembl chr12:11,662,347...11,681,373

Acrodysostosis 1, with or without Hormone Resistance

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

protein kinase cAMP-dependent type I regulatory subunit alpha

ClinVar Annotator: match by term: Acrodysostosis 1 with or without hormone resistance

PMID:11115848 PMID:11200992 PMID:15371594 PMID:18241045 PMID:19293268 More...

NCBI chr12:11,662,344...11,681,490
Ensembl chr12:11,662,347...11,681,373

Acrodysostosis 2, with or without Hormone Resistance

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

DEP domain containing 1B

ClinVar Annotator: match by term: Acrodysostosis 2 with or without hormone resistance

PMID:21681106 PMID:24203977

NCBI chr16:39,466,496...39,558,750
Ensembl chr16:39,466,497...39,557,840

G

phosphodiesterase 4D

ClinVar Annotator: match by term: Acrodysostosis 2 with or without hormone resistance | ClinVar Annotator: match by term: PDE4D-related condition

PMID:11200992 PMID:12121997 PMID:15025561 PMID:21681106 PMID:22464250 More...

NCBI chr16:37,897,300...39,406,534
Ensembl chr16:37,897,302...39,306,364

acromesomelic dysplasia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

growth differentiation factor 5

ClinVar Annotator: match by term: Acromesomelic dwarfism | ClinVar Annotator: match by term: Acromesomelic dysplasia

NCBI chr17:38,792,854...38,796,806
Ensembl chr17:38,792,187...38,797,005

G

natriuretic peptide receptor 2

ClinVar Annotator: match by term: Acromesomelic dysplasia

NCBI chr 1:236,508,994...236,529,172
Ensembl chr 1:236,508,998...236,529,128

acromesomelic dysplasia, Grebe type

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

growth differentiation factor 5

ClinVar Annotator: match by term: Grebe syndrome

PMID:9288098 PMID:12124730 PMID:12900894 PMID:17384641 PMID:25741868 More...

NCBI chr17:38,792,854...38,796,806
Ensembl chr17:38,792,187...38,797,005

acromesomelic dysplasia, Hunter-Thompson type

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

bone morphogenetic protein receptor type 1B

ClinVar Annotator: match by term: Acromesomelic dysplasia 2C, Hunter-Thompson type

NCBI chr 8:124,536,648...125,035,841
Ensembl chr 8:124,536,653...124,759,406

G

growth differentiation factor 5

ClinVar Annotator: match by term: Acromesomelic dysplasia 2C, Hunter-Thompson type | ClinVar Annotator: match by term: Acromesomelic dysplasia, Hunter-Thompson type

PMID:2703235 PMID:8589725 PMID:17384641 PMID:25741868 PMID:28492532

NCBI chr17:38,792,854...38,796,806
Ensembl chr17:38,792,187...38,797,005

acromesomelic dysplasia, Maroteaux type

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

aprataxin

ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type

NCBI chr10:33,470,089...33,495,584
Ensembl chr10:33,445,148...33,543,710

G

aquaporin 3

ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type

NCBI chr10:33,045,374...33,050,285
Ensembl chr10:33,045,245...33,051,082

G

aquaporin 7

ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type

NCBI chr10:33,098,746...33,130,245

G

Rho guanine nucleotide exchange factor 39

ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type

NCBI chr 1:236,383,684...236,387,705
Ensembl chr 1:236,383,925...236,387,667

G

AT-rich interaction domain 3C

ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type

NCBI chr10:32,171,233...32,187,239
Ensembl chr10:32,172,871...32,180,604

G

atos homolog B

ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type

NCBI chr 1:235,895,613...235,907,142
Ensembl chr 1:235,895,621...235,907,113

G

beta-1,4-galactosyltransferase 1

ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type

NCBI chr10:33,317,295...33,381,285
Ensembl chr10:33,317,305...33,381,285

G

BAG cochaperone 1

ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type

NCBI chr10:33,227,530...33,240,731
Ensembl chr10:33,227,337...33,242,230

G

carbonic anhydrase 9

ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type

NCBI chr 1:236,393,727...236,400,994
Ensembl chr 1:236,394,306...236,400,822

G

coiled-coil domain containing 107

ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type

NCBI chr 1:236,380,572...236,383,671
Ensembl chr 1:236,380,577...236,383,666

G

calicin

ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type

NCBI chr 1:236,947,871...236,950,447
Ensembl chr 1:236,948,636...236,950,402

G

C-C motif chemokine ligand 19

ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type

NCBI chr10:32,110,366...32,112,529
Ensembl chr10:32,110,065...32,112,734

G

C-C motif chemokine ligand 21

ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type

NCBI chr10:32,093,783...32,094,482
Ensembl chr10:32,093,763...32,096,224

G

C-C motif chemokine ligand 27

ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type

NCBI chr10:32,138,232...32,138,980
Ensembl chr10:32,138,232...32,138,974

G

CD72 molecule

ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type

NCBI chr 1:236,345,894...236,355,755
Ensembl chr 1:236,345,903...236,355,702

G

charged multivesicular body protein 5

ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type

NCBI chr10:33,212,769...33,227,237
Ensembl chr10:33,211,516...33,227,302

G

ciliary microtubule inner protein 2B

ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type

NCBI chr 1:236,322,893...236,325,008
Ensembl chr 1:236,322,897...236,324,981

G

clathrin light chain A

ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type

NCBI chr 1:236,971,317...236,993,291
Ensembl chr 1:236,971,505...237,001,731

G

ciliary neurotrophic factor receptor

ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type

NCBI chr10:32,211,809...32,251,412
Ensembl chr10:32,211,777...32,251,503

G

cAMP responsive element binding protein 3

ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type

NCBI chr 1:236,450,573...236,456,381
Ensembl chr 1:236,450,573...236,456,375

G

DDB1 and CUL4 associated factor 12

ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type

NCBI chr10:32,673,982...32,714,940
Ensembl chr10:32,674,045...32,714,940

G

dynactin subunit 3

ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type

NCBI chr10:32,180,557...32,187,239
Ensembl chr10:32,180,613...32,188,059

G

dynein axonemal intermediate chain 1

ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type

NCBI chr10:32,275,173...32,355,444
Ensembl chr10:32,275,175...32,355,399

G

DnaJ heat shock protein family (Hsp40) member A1

ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type

NCBI chr10:33,432,529...33,445,556
Ensembl chr10:33,432,844...33,445,532

G

DnaJ heat shock protein family (Hsp40) member B5

ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type

NCBI chr 1:235,790,657...235,799,385
Ensembl chr 1:235,790,749...235,799,381

G

energy homeostasis associated

ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type

NCBI chr10:32,273,136...32,275,177
Ensembl chr10:32,273,086...32,275,114

G

exosome component 3

ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type

NCBI chr 1:238,536,341...238,541,756
Ensembl chr 1:238,536,345...238,541,333

G

family with sequence similarity 219 member A

ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type

NCBI chr10:32,355,628...32,422,412
Ensembl chr10:32,355,647...32,420,092

G

family with sequence similarity 221 member B

ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type

NCBI chr 1:236,538,172...236,551,064
Ensembl chr 1:236,539,262...236,547,959

G

FA complementation group G

ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type

NCBI chr 1:235,871,073...235,879,604
Ensembl chr 1:235,871,075...235,877,974

G

F-box protein 10

ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type

NCBI chr 1:238,232,855...238,308,661
Ensembl chr 1:238,232,867...238,308,625

G

FERM and PDZ domain containing 1

ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type

NCBI chr 1:238,371,311...238,511,714
Ensembl chr 1:238,371,336...238,511,715

G

galactose-1-phosphate uridylyltransferase

ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type

NCBI chr10:32,151,150...32,154,792
Ensembl chr10:32,151,177...32,154,740

G

glucosylceramidase beta 2

ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type

NCBI chr 1:236,456,238...236,467,887
Ensembl chr 1:236,455,240...236,468,210

G

GLI pathogenesis related 2

ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type

NCBI chr 1:236,919,821...236,943,828
Ensembl chr 1:236,919,879...236,943,823

G

glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase

ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type

NCBI chr 1:236,998,754...237,065,819
Ensembl chr 1:236,998,757...237,065,767

G

glyoxylate and hydroxypyruvate reductase

ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type

NCBI chr 1:238,139,764...238,151,631
Ensembl chr 1:238,139,794...238,152,382

G

histidine triad nucleotide binding protein 2

ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type

NCBI chr 1:236,532,316...236,535,263

G

histidine rich carboxyl terminus 1

ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type

NCBI chr 1:236,670,418...236,671,435
Ensembl chr 1:236,670,604...236,670,948

G

interleukin 11 receptor subunit alpha

ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type

NCBI chr10:32,138,984...32,149,315
Ensembl chr10:32,139,063...32,146,138

G

kinesin family member 24

ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type

NCBI chr10:32,454,615...32,552,763
Ensembl chr10:32,467,072...32,552,375

G

olfactory receptor 13J1-like

ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type

NCBI chr 1:236,595,655...236,597,257

G

olfactory receptor 2S2

ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type

NCBI chr 1:236,709,468...236,712,100
Ensembl chr 1:236,709,673...236,710,632

G

maternal embryonic leucine zipper kinase

ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type

NCBI chr 1:237,317,161...237,431,522
Ensembl chr 1:237,317,191...237,431,589

G

microseminoprotein, prostate associated

ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type

NCBI chr 1:236,472,652...236,473,664
Ensembl chr 1:236,472,424...236,473,862

G

myogenesis regulating glycosidase

ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type

NCBI chr10:32,436,349...32,443,971
Ensembl chr10:32,436,656...32,443,968

G

NADH:ubiquinone oxidoreductase subunit B6

ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type

NCBI chr10:33,849,206...33,865,080
Ensembl chr10:33,802,051...33,865,385

G

nuclear transcription factor, X-box binding 1

ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type

NCBI chr10:33,126,460...33,200,819
Ensembl chr10:33,126,607...33,200,680

G

nucleolar protein 6

ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type

NCBI chr10:33,022,035...33,035,201
Ensembl chr10:33,022,035...33,035,200

G

natriuretic peptide receptor 2

ClinVar Annotator: match by term: ACROMESOMELIC DYSPLASIA 1 | ClinVar Annotator: match by term: Acromesomelic dwarfism Maroteux type | ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type | ClinVar Annotator: match by term: Acromesomelic dysplasia, Maroteaux type | ClinVar Annotator: match by term: ST. HELENA DYSPLASIA

PMID:9536098 PMID:15146390 PMID:15572448 PMID:16199547 PMID:16384845 More...

NCBI chr 1:236,508,994...236,529,172
Ensembl chr 1:236,508,998...236,529,128

G

nudix hydrolase 2

ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type

NCBI chr10:32,450,986...32,466,893
Ensembl chr10:32,451,064...32,466,839

G

paired box 5

ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type

NCBI chr 1:237,574,938...237,785,454
Ensembl chr 1:237,575,061...237,785,413

G

PHD finger protein 24

ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type

NCBI chr 1:235,757,499...235,783,053
Ensembl chr 1:235,757,797...235,783,051

G

phosphatidylinositol glycan anchor biosynthesis class O

ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type

NCBI chr 1:235,880,088...235,888,338
Ensembl chr 1:235,878,355...235,887,993

G

RNA polymerase I subunit E

ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type

NCBI chr 1:238,197,659...238,219,475
Ensembl chr 1:238,197,684...238,220,524

G

reversion inducing cysteine rich protein with kazal motifs

ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type

NCBI chr 1:236,821,243...236,898,280
Ensembl chr 1:236,821,414...236,898,276

G

RGP1 homolog, RAB6A GEF complex partner 1

ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type

NCBI chr 1:236,468,115...236,478,347
Ensembl chr 1:236,468,320...236,477,683

G

RNA sensor RIG-I

ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type

NCBI chr10:33,891,720...33,976,151
Ensembl chr10:33,891,763...33,933,455

G

ring finger protein 38

ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type

NCBI chr 1:237,111,002...237,240,311
Ensembl chr 1:237,111,012...237,235,485

G

ribonuclease P/MRP subunit p25 like

ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type

NCBI chr10:32,189,182...32,191,429
Ensembl chr10:32,189,204...32,191,426

G

RUN and SH3 domain containing 2

ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type

NCBI chr 1:236,265,915...236,322,958
Ensembl chr 1:236,299,344...236,322,953

G

sigma non-opioid intracellular receptor 1

ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type

NCBI chr10:32,160,767...32,163,540
Ensembl chr10:32,160,822...32,164,718

G

signaling threshold regulating transmembrane adaptor 1

ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type

NCBI chr 1:236,371,708...236,373,414
Ensembl chr 1:236,371,699...236,373,419

G

SMU1 DNA replication regulator and spliceosomal factor

ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type

NCBI chr10:33,399,383...33,426,313
Ensembl chr10:33,399,383...33,430,971

G

sperm associated antigen 8

ClinVar Annotator: match by term: ACROMESOMELIC DYSPLASIA 1 | ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type | ClinVar Annotator: match by term: Acromesomelic dysplasia, Maroteaux type

PMID:15146390 PMID:15572448 PMID:16199547 PMID:16384845 PMID:18945719 More...

NCBI chr 1:236,526,659...236,532,181
Ensembl chr 1:236,529,269...236,534,734

G

SPATA31 subfamily F member 3

ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type

NCBI chr 1:235,677,529...235,687,421

G

SPATA31 subfamily G member 1

ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type

NCBI chr 1:235,844,826...235,849,556
Ensembl chr 1:235,842,554...235,848,767

G

serine peptidase inhibitor Kazal type 4

ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type

NCBI chr10:33,246,260...33,255,617
Ensembl chr10:33,246,247...33,255,688

G

sperm microtubule inner protein 6

ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type

NCBI chr10:32,419,965...32,435,622
Ensembl chr10:32,419,795...32,435,884

G

stomatin like 2

ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type

NCBI chr 1:235,891,479...235,894,944
Ensembl chr 1:235,890,679...235,894,737

G

testis associated actin remodelling kinase 1

ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type

NCBI chr 1:236,341,160...236,345,964
Ensembl chr 1:236,341,261...236,345,962

G

talin 1

ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type

NCBI chr 1:236,416,041...236,450,978
Ensembl chr 1:236,416,044...236,450,922

G

transmembrane protein 215

ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type

NCBI chr10:33,663,263...33,670,510
Ensembl chr10:33,664,793...33,670,295

G

transmembrane protein 8B

ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type

NCBI chr 1:236,550,759...236,583,635
Ensembl chr 1:236,551,434...236,584,376

G

translocase of outer mitochondrial membrane 5

ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type

NCBI chr 1:238,328,894...238,333,066

G

TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase

ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type

NCBI chr10:33,865,967...33,878,135
Ensembl chr10:33,865,959...33,879,070

G

tropomyosin 2

ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type

NCBI chr 1:236,402,249...236,410,390
Ensembl chr 1:236,402,251...236,410,905

G

tRNA methyltransferase 10B

ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type

NCBI chr 1:238,516,042...238,536,372
Ensembl chr 1:238,516,058...238,537,149

G

ubiquitin associated protein 1

ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type

NCBI chr10:32,552,243...32,626,100
Ensembl chr10:32,552,245...32,626,083

G

ubiquitin associated protein 2

ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type

NCBI chr10:32,755,707...32,897,260
Ensembl chr10:32,756,040...32,892,867

G

ubiquitin conjugating enzyme E2 R2

ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type

NCBI chr10:32,894,424...33,014,473
Ensembl chr10:32,894,432...33,014,473

G

unc-13 homolog B

ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type

NCBI chr 1:235,918,751...236,158,098
Ensembl chr 1:235,918,747...236,158,098

G

valosin containing protein

ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type

NCBI chr 1:235,854,532...235,869,712
Ensembl chr 1:235,851,206...235,869,634

G

zinc finger and BTB domain containing 5

ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type

NCBI chr 1:238,153,165...238,179,344
Ensembl chr 1:238,153,168...238,177,461

G

zinc finger CCHC-type containing 7

ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type

NCBI chr 1:237,820,675...238,068,505
Ensembl chr 1:237,820,363...238,068,305

acromesomelic dysplasia-3

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

bone morphogenetic protein receptor type 1B

ClinVar Annotator: match by term: ACROMESOMELIC DYSPLASIA 3 | ClinVar Annotator: match by term: Acromesomelic dysplasia 3 | ClinVar Annotator: match by term: Acromesomelic dysplasia, Demirhan type | ClinVar Annotator: match by term: CHONDRODYSPLASIA, ACROMESOMELIC, WITH OR WITHOUT GENITAL ANOMALIES

PMID:15805157 PMID:22374147 PMID:24129431 PMID:25741868 PMID:25758993 More...

NCBI chr 8:124,536,648...125,035,841
Ensembl chr 8:124,536,653...124,759,406

acromesomelic dysplasia-4

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

protein kinase cGMP-dependent 2

ClinVar Annotator: match by term: Acromesomelic dysplasia 4

PMID:25741868 PMID:33106379 PMID:34782440

NCBI chr 8:136,754,698...136,854,589
Ensembl chr 8:136,755,469...136,852,906

acromicric dysplasia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ADAMTS like 2

ClinVar Annotator: match by term: Geleophysic dwarfism

PMID:24014090 PMID:25741868 PMID:26879370 PMID:33369194 PMID:36474027

NCBI chr 1:273,119,826...273,155,412
Ensembl chr 1:273,119,904...273,155,409

G

fibrillin 1

ClinVar Annotator: match by term: Acromicric dysplasia | ClinVar Annotator: match by term: Acromicric skeletal dysplasia
ClinVar Annotator: match by term: Acromicric dysplasia | ClinVar Annotator: match by term: Acromicric skeletal dysplasia | ClinVar Annotator: match by term: Geleophysic dwarfism

PMID:627879 PMID:948948 PMID:960337 PMID:1852206 PMID:2005308 More...

NCBI chr 1:123,102,011...123,359,649
Ensembl chr 1:123,102,009...123,359,649

G

SMAD family member 2

CTD Direct Evidence: marker/mechanism

NCBI chr 1:97,415,360...97,511,388
Ensembl chr 1:97,415,716...97,511,357

G

transforming growth factor beta 1

CTD Direct Evidence: marker/mechanism

NCBI chr 6:49,332,169...49,348,642
Ensembl chr 6:49,332,173...49,349,046

Anadysplasia-Like, Spontaneously Remitting Spondylometaphyseal Dysplasia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

lamin B receptor

ClinVar Annotator: match by term: Anadysplasia-like, spontaneously remitting spondylometaphyseal dysplasia

PMID:18382993 PMID:25348816 PMID:25741868 PMID:28492532

NCBI chr10:13,389,896...13,416,831
Ensembl chr10:13,386,946...13,416,759

anauxetic dysplasia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

Rho guanine nucleotide exchange factor 39

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr 1:236,383,684...236,387,705
Ensembl chr 1:236,383,925...236,387,667

G

AT-rich interaction domain 3C

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr10:32,171,233...32,187,239
Ensembl chr10:32,172,871...32,180,604

G

atos homolog B

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr 1:235,895,613...235,907,142
Ensembl chr 1:235,895,621...235,907,113

G

carbonic anhydrase 9

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr 1:236,393,727...236,400,994
Ensembl chr 1:236,394,306...236,400,822

G

coiled-coil domain containing 107

ClinVar Annotator: match by term: Anauxetic dysplasia

PMID:8034306 PMID:8444246 PMID:9156319 PMID:10026268 PMID:11207361 More...

NCBI chr 1:236,380,572...236,383,671
Ensembl chr 1:236,380,577...236,383,666

G

calicin

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr 1:236,947,871...236,950,447
Ensembl chr 1:236,948,636...236,950,402

G

C-C motif chemokine ligand 19

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr10:32,110,366...32,112,529
Ensembl chr10:32,110,065...32,112,734

G

C-C motif chemokine ligand 21

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr10:32,093,783...32,094,482
Ensembl chr10:32,093,763...32,096,224

G

C-C motif chemokine ligand 27

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr10:32,138,232...32,138,980
Ensembl chr10:32,138,232...32,138,974

G

CD72 molecule

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr 1:236,345,894...236,355,755
Ensembl chr 1:236,345,903...236,355,702

G

ciliary microtubule inner protein 2B

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr 1:236,322,893...236,325,008
Ensembl chr 1:236,322,897...236,324,981

G

clathrin light chain A

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr 1:236,971,317...236,993,291
Ensembl chr 1:236,971,505...237,001,731

G

ciliary neurotrophic factor receptor

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr10:32,211,809...32,251,412
Ensembl chr10:32,211,777...32,251,503

G

cAMP responsive element binding protein 3

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr 1:236,450,573...236,456,381
Ensembl chr 1:236,450,573...236,456,375

G

dynactin subunit 3

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr10:32,180,557...32,187,239
Ensembl chr10:32,180,613...32,188,059

G

dynein axonemal intermediate chain 1

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr10:32,275,173...32,355,444
Ensembl chr10:32,275,175...32,355,399

G

DnaJ heat shock protein family (Hsp40) member B5

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr 1:235,790,657...235,799,385
Ensembl chr 1:235,790,749...235,799,381

G

energy homeostasis associated

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr10:32,273,136...32,275,177
Ensembl chr10:32,273,086...32,275,114

G

family with sequence similarity 219 member A

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr10:32,355,628...32,422,412
Ensembl chr10:32,355,647...32,420,092

G

family with sequence similarity 221 member B

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr 1:236,538,172...236,551,064
Ensembl chr 1:236,539,262...236,547,959

G

FA complementation group G

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr 1:235,871,073...235,879,604
Ensembl chr 1:235,871,075...235,877,974

G

galactose-1-phosphate uridylyltransferase

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr10:32,151,150...32,154,792
Ensembl chr10:32,151,177...32,154,740

G

glucosylceramidase beta 2

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr 1:236,456,238...236,467,887
Ensembl chr 1:236,455,240...236,468,210

G

GLI pathogenesis related 2

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr 1:236,919,821...236,943,828
Ensembl chr 1:236,919,879...236,943,823

G

glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr 1:236,998,754...237,065,819
Ensembl chr 1:236,998,757...237,065,767

G

histidine triad nucleotide binding protein 2

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr 1:236,532,316...236,535,263

G

histidine rich carboxyl terminus 1

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr 1:236,670,418...236,671,435
Ensembl chr 1:236,670,604...236,670,948

G

interleukin 11 receptor subunit alpha

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr10:32,138,984...32,149,315
Ensembl chr10:32,139,063...32,146,138

G

olfactory receptor 13J1-like

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr 1:236,595,655...236,597,257

G

olfactory receptor 2S2

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr 1:236,709,468...236,712,100
Ensembl chr 1:236,709,673...236,710,632

G

uncharacterized LOC110255597

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr10:32,134,464...32,135,892

G

microseminoprotein, prostate associated

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr 1:236,472,652...236,473,664
Ensembl chr 1:236,472,424...236,473,862

G

myogenesis regulating glycosidase

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr10:32,436,349...32,443,971
Ensembl chr10:32,436,656...32,443,968

G

natriuretic peptide receptor 2

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr 1:236,508,994...236,529,172
Ensembl chr 1:236,508,998...236,529,128

G

PHD finger protein 24

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr 1:235,757,499...235,783,053
Ensembl chr 1:235,757,797...235,783,051

G

phosphatidylinositol glycan anchor biosynthesis class O

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr 1:235,880,088...235,888,338
Ensembl chr 1:235,878,355...235,887,993

G

reversion inducing cysteine rich protein with kazal motifs

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr 1:236,821,243...236,898,280
Ensembl chr 1:236,821,414...236,898,276

G

RGP1 homolog, RAB6A GEF complex partner 1

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr 1:236,468,115...236,478,347
Ensembl chr 1:236,468,320...236,477,683

G

ribonuclease P/MRP subunit p25 like

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr10:32,189,182...32,191,429
Ensembl chr10:32,189,204...32,191,426

G

RUN and SH3 domain containing 2

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr 1:236,265,915...236,322,958
Ensembl chr 1:236,299,344...236,322,953

G

sigma non-opioid intracellular receptor 1

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr10:32,160,767...32,163,540
Ensembl chr10:32,160,822...32,164,718

G

signaling threshold regulating transmembrane adaptor 1

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr 1:236,371,708...236,373,414
Ensembl chr 1:236,371,699...236,373,419

G

sperm associated antigen 8

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr 1:236,526,659...236,532,181
Ensembl chr 1:236,529,269...236,534,734

G

SPATA31 subfamily F member 3

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr 1:235,677,529...235,687,421

G

SPATA31 subfamily G member 1

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr 1:235,844,826...235,849,556
Ensembl chr 1:235,842,554...235,848,767

G

sperm microtubule inner protein 6

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr10:32,419,965...32,435,622
Ensembl chr10:32,419,795...32,435,884

G

stomatin like 2

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr 1:235,891,479...235,894,944
Ensembl chr 1:235,890,679...235,894,737

G

testis associated actin remodelling kinase 1

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr 1:236,341,160...236,345,964
Ensembl chr 1:236,341,261...236,345,962

G

talin 1

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr 1:236,416,041...236,450,978
Ensembl chr 1:236,416,044...236,450,922

G

transmembrane protein 8B

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr 1:236,550,759...236,583,635
Ensembl chr 1:236,551,434...236,584,376

G

tropomyosin 2

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr 1:236,402,249...236,410,390
Ensembl chr 1:236,402,251...236,410,905

G

unc-13 homolog B

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr 1:235,918,751...236,158,098
Ensembl chr 1:235,918,747...236,158,098

G

valosin containing protein

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr 1:235,854,532...235,869,712
Ensembl chr 1:235,851,206...235,869,634

anauxetic dysplasia 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

coiled-coil domain containing 107

ClinVar Annotator: match by term: Spondylometaepiphyseal dysplasia Menger type

PMID:8034306 PMID:8444246 PMID:9156319 PMID:10026268 PMID:11207361 More...

NCBI chr 1:236,380,572...236,383,671
Ensembl chr 1:236,380,577...236,383,666

G

POP1 homolog, ribonuclease P/MRP subunit

CTD Direct Evidence: marker/mechanism

NCBI chr 4:38,608,536...38,656,204
Ensembl chr 4:38,607,708...38,656,151

anauxetic dysplasia 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

POP1 homolog, ribonuclease P/MRP subunit

ClinVar Annotator: match by term: Anauxetic dysplasia 2 | ClinVar Annotator: match by term: POP1-related condition

PMID:21455487 PMID:21534943 PMID:25741868 PMID:27380734 PMID:28067412 More...

NCBI chr 4:38,608,536...38,656,204
Ensembl chr 4:38,607,708...38,656,151

anauxetic dysplasia 3

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

nucleolus and neural progenitor protein

ClinVar Annotator: match by term: Anauxetic dysplasia 3

PMID:25741868 PMID:26633546 PMID:29620724 PMID:31250547

NCBI chr13:146,902,010...146,914,755
Ensembl chr13:146,902,041...146,915,162

asphyxiating thoracic dystrophy

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

angiopoietin like 5

ClinVar Annotator: match by term: Jeune thoracic dystrophy

PMID:23339108 PMID:24781753 PMID:28492532 PMID:31413057 PMID:32753734

NCBI chr 9:32,610,041...32,627,337
Ensembl chr 9:32,610,297...32,627,337

G

B9 domain containing 1

ClinVar Annotator: match by term: Jeune thoracic dystrophy

NCBI chr12:60,162,656...60,171,586
Ensembl chr12:60,162,713...60,171,961

G

baculoviral IAP repeat containing 3

ClinVar Annotator: match by term: Jeune thoracic dystrophy

PMID:23339108 PMID:24781753 PMID:28492532 PMID:31413057 PMID:32753734

NCBI chr 9:33,003,570...33,020,252
Ensembl chr 9:33,002,734...33,020,242

G

C2 domain containing 3 centriole elongation regulator

ClinVar Annotator: match by term: Jeune thoracic dystrophy

PMID:25741868 PMID:26092869

NCBI chr 9:8,393,610...8,512,843
Ensembl chr 9:8,393,612...8,512,848

G

centrosomal protein 120

CTD Direct Evidence: marker/mechanism

NCBI chr 2:126,840,262...126,930,117
Ensembl chr 2:126,840,266...126,930,483

G

centrosomal protein 126

ClinVar Annotator: match by term: Jeune thoracic dystrophy

PMID:23339108 PMID:24781753 PMID:28492532 PMID:31413057 PMID:32753734

NCBI chr 9:32,631,859...32,715,458
Ensembl chr 9:32,631,897...32,705,793

G

cilia and flagella associated protein 300

ClinVar Annotator: match by term: Jeune thoracic dystrophy

PMID:23339108 PMID:24781753 PMID:28492532 PMID:31413057 PMID:32753734

NCBI chr 9:32,753,274...32,795,303
Ensembl chr 9:32,765,880...32,795,297

G

ciliogenesis associated kinase 1

ClinVar Annotator: match by term: Short rib-polydactyly syndrome

NCBI chr 7:46,658,671...46,723,286
Ensembl chr 7:46,658,681...46,723,585

G

collagen type II alpha 1 chain

ClinVar Annotator: match by term: Short ribs

PMID:7695699 PMID:8218237 PMID:9016532 PMID:17078022 PMID:19344236 More...

NCBI chr 5:78,350,131...78,380,893
Ensembl chr 5:78,350,137...78,380,718

G

cysteine and serine rich nuclear protein 3

ClinVar Annotator: match by term: Jeune thoracic dystrophy

PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More...

NCBI chr15:72,040,854...72,242,269
Ensembl chr15:72,141,621...72,233,832

G

defective in cullin neddylation 1 domain containing 5

ClinVar Annotator: match by term: Jeune thoracic dystrophy

PMID:23339108 PMID:24781753 PMID:28492532 PMID:31413057 PMID:32753734

NCBI chr 9:33,674,524...33,707,648
Ensembl chr 9:33,674,268...33,707,618

G

dynein cytoplasmic 2 heavy chain 1

ClinVar Annotator: match by term: Jeune thoracic dystrophy | ClinVar Annotator: match by term: Short rib-polydactyly syndrome

PMID:6938784 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19361615 More...

NCBI chr 9:33,720,920...34,039,954
Ensembl chr 9:33,720,877...34,040,188

G

dynein 2 intermediate chain 1

ClinVar Annotator: match by term: Jeune thoracic dystrophy

PMID:25741868 PMID:28492532 PMID:29068549

NCBI chr18:507,163...555,142
Ensembl chr18:508,276...553,968

G

dynein 2 intermediate chain 2

ClinVar Annotator: match by term: Jeune thoracic dystrophy

PMID:19610081 PMID:24183451 PMID:25741868 PMID:28492532 PMID:29068549 More...

NCBI chr 1:269,002,252...269,030,978
Ensembl chr 1:269,002,261...269,030,719

G

dynein cytoplasmic 2 light intermediate chain 1

CTD Direct Evidence: marker/mechanism

NCBI chr 3:96,656,099...96,703,282
Ensembl chr 3:96,654,415...96,703,237

G

EvC ciliary complex subunit 2

ClinVar Annotator: match by term: Jeune thoracic dystrophy

PMID:16199547 PMID:17024374 PMID:19251731 PMID:19810119 PMID:19876929 More...

NCBI chr 8:4,893,480...5,023,655
Ensembl chr 8:4,893,217...5,023,644

G

fibroblast growth factor receptor 3

ClinVar Annotator: match by term: Short ribs

PMID:1908846 PMID:7773297 PMID:8640234 PMID:8858131 PMID:9438390 More...

NCBI chr 8:879,151...894,968
Ensembl chr 8:879,159...894,964

G

FLVCR choline and heme transporter 1

ClinVar Annotator: match by term: Jeune thoracic dystrophy | ClinVar Annotator: match by term: Short rib-polydactyly syndrome

NCBI chr 9:130,543,911...130,570,486
Ensembl chr 9:130,541,660...130,570,702

G

fuzzy planar cell polarity protein

ClinVar Annotator: match by term: Jeune thoracic dystrophy

NCBI chr 6:54,823,680...54,830,425
Ensembl chr 6:54,823,668...54,829,506

G

polypeptide N-acetylgalactosaminyltransferase 3

ClinVar Annotator: match by term: Jeune thoracic dystrophy

PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More...

NCBI chr15:72,276,502...72,343,524
Ensembl chr15:72,293,614...72,342,435

G

G protein-coupled receptor kinase 2

ClinVar Annotator: match by term: Jeune thoracic dystrophy

NCBI chr 2:5,209,435...5,227,543
Ensembl chr 2:5,209,439...5,227,758

G

intraflagellar transport 140

ClinVar Annotator: match by term: Jeune thoracic dystrophy

PMID:9536098 PMID:16199547 PMID:17576681 PMID:22503633 PMID:23418020 More...

NCBI chr 3:40,309,298...40,372,139
Ensembl chr 3:40,309,635...40,372,135

G

intraflagellar transport 172

CTD Direct Evidence: marker/mechanism

NCBI chr 3:111,683,674...111,718,504
Ensembl chr 3:111,683,669...111,718,970

G

intraflagellar transport 43

ClinVar Annotator: match by term: Jeune thoracic dystrophy | ClinVar Annotator: match by term: Short rib-polydactyly syndrome

PMID:21378380 PMID:25741868 PMID:28400947 PMID:28492532 PMID:29068549

NCBI chr 7:99,155,889...99,254,436
Ensembl chr 7:99,158,892...99,254,355

G

intraflagellar transport 52

ClinVar Annotator: match by term: Jeune thoracic dystrophy | ClinVar Annotator: match by term: Short rib-polydactyly syndrome

PMID:27466190 PMID:28492532 PMID:29068549

NCBI chr17:46,209,956...46,246,696
Ensembl chr17:46,210,150...46,246,674

G

intraflagellar transport 74

ClinVar Annotator: match by term: Jeune thoracic dystrophy

NCBI chr 1:196,084,498...196,173,880
Ensembl chr 1:196,086,072...196,173,880

G

intraflagellar transport 80

ClinVar Annotator: match by term: Jeune thoracic dystrophy | ClinVar Annotator: match by term: Short Rib Polydactyly Syndrome

PMID:9536098 PMID:11727201 PMID:12673792 PMID:16199547 PMID:16385454 More...

NCBI chr13:99,943,203...100,078,148
Ensembl chr13:99,943,208...100,078,148

G

intraflagellar transport 81

ClinVar Annotator: match by term: Jeune thoracic dystrophy

PMID:25741868 PMID:26275418 PMID:27666822 PMID:28492532

NCBI chr14:31,425,548...31,615,003
Ensembl chr14:31,425,658...31,615,000

G

intraflagellar transport 88

ClinVar Annotator: match by term: Jeune thoracic dystrophy

NCBI chr11:943,444...1,025,617
Ensembl chr11:943,469...1,025,613

G

inturned planar cell polarity protein

ClinVar Annotator: match by term: Jeune thoracic dystrophy | ClinVar Annotator: match by term: Short rib-polydactyly syndrome

PMID:25741868 PMID:27158779 PMID:29068549

NCBI chr 8:97,123,062...97,204,659
Ensembl chr 8:97,123,065...97,204,650

G

KIAA0586

ClinVar Annotator: match by term: Jeune thoracic dystrophy

NCBI chr 1:187,504,694...187,642,492
Ensembl chr 1:187,504,638...187,642,492

G

KIAA0753 ortholog

ClinVar Annotator: match by term: Jeune thoracic dystrophy

PMID:25741868 PMID:28492532 PMID:29138412 PMID:31816441 PMID:34529350

NCBI chr12:50,737,158...50,793,187
Ensembl chr12:50,742,773...50,898,331

G

lamin B receptor

ClinVar Annotator: match by term: Jeune thoracic dystrophy | ClinVar Annotator: match by term: Jeune's syndrome

PMID:25741868 PMID:28492532 PMID:28600779 PMID:29068549

NCBI chr10:13,389,896...13,416,831
Ensembl chr10:13,386,946...13,416,759

G

baculoviral IAP repeat-containing protein 2

ClinVar Annotator: match by term: Jeune thoracic dystrophy

PMID:23339108 PMID:24781753 PMID:28492532 PMID:31413057 PMID:32753734

NCBI chr 9:33,041,592...33,062,865
Ensembl chr 9:33,041,663...33,062,854

G

matrilin 3

ClinVar Annotator: match by term: Jeune thoracic dystrophy | ClinVar Annotator: match by term: Short rib-polydactyly syndrome

PMID:25741868 PMID:28492532

NCBI chr 3:118,185,928...118,206,465
Ensembl chr 3:118,185,975...118,205,558

G

matrix metallopeptidase 1

ClinVar Annotator: match by term: Jeune thoracic dystrophy

PMID:23339108 PMID:24781753 PMID:28492532 PMID:31413057 PMID:32753734

NCBI chr 9:33,411,738...33,420,205
Ensembl chr 9:33,411,065...33,420,076

G

matrix metallopeptidase 12

ClinVar Annotator: match by term: Jeune thoracic dystrophy

PMID:23339108 PMID:24781753 PMID:28492532 PMID:31413057 PMID:32753734

NCBI chr 9:33,473,625...33,483,630
Ensembl chr 9:33,473,093...33,483,679

G

matrix metallopeptidase 13

ClinVar Annotator: match by term: Jeune thoracic dystrophy

PMID:23339108 PMID:24781753 PMID:28492532 PMID:31413057 PMID:32753734

NCBI chr 9:33,549,003...33,616,700
Ensembl chr 9:33,549,008...33,561,162

G

matrix metallopeptidase 20

ClinVar Annotator: match by term: Jeune thoracic dystrophy

PMID:23339108 PMID:24781753 PMID:28492532 PMID:31413057 PMID:32753734

NCBI chr 9:33,261,448...33,308,047
Ensembl chr 9:33,261,443...33,308,047

G

matrix metallopeptidase 27

ClinVar Annotator: match by term: Jeune thoracic dystrophy

PMID:23339108 PMID:24781753 PMID:28492532 PMID:31413057 PMID:32753734

NCBI chr 9:33,366,342...33,379,828
Ensembl chr 9:33,366,345...33,379,789

G

matrix metallopeptidase 3

ClinVar Annotator: match by term: Jeune thoracic dystrophy

PMID:23339108 PMID:24781753 PMID:28492532 PMID:31413057 PMID:32753734

NCBI chr 9:33,446,969...33,453,995
Ensembl chr 9:33,446,836...33,454,000

G

matrix metallopeptidase 7

ClinVar Annotator: match by term: Jeune thoracic dystrophy

PMID:23339108 PMID:24781753 PMID:28492532 PMID:31413057 PMID:32753734

NCBI chr 9:33,214,590...33,225,080
Ensembl chr 9:33,214,594...33,225,080

G

matrix metallopeptidase 8

ClinVar Annotator: match by term: Jeune thoracic dystrophy

PMID:23339108 PMID:24781753 PMID:28492532 PMID:31413057 PMID:32753734

NCBI chr 9:33,384,034...33,397,637
Ensembl chr 9:33,384,033...33,396,947

G

NIMA related kinase 1

ClinVar Annotator: match by term: Jeune thoracic dystrophy | ClinVar Annotator: match by term: Short rib-polydactyly syndrome

PMID:22499340 PMID:23757202 PMID:25741868 PMID:28492532 PMID:29068549

NCBI chr14:20,144,631...20,332,248
Ensembl chr14:20,144,659...20,332,245

G

phosphate cytidylyltransferase 1A, choline

CTD Direct Evidence: marker/mechanism

NCBI chr13:133,774,548...133,798,920
Ensembl chr13:133,774,574...133,800,038

G

RAB34, member RAS oncogene family

ClinVar Annotator: match by term: Jeune's syndrome

PMID:25741868 PMID:37619988

NCBI chr12:44,951,989...44,956,458
Ensembl chr12:44,951,210...44,956,119

G

sodium voltage-gated channel alpha subunit 1

ClinVar Annotator: match by term: Jeune thoracic dystrophy

PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More...

NCBI chr15:72,529,866...72,696,715
Ensembl chr15:72,529,875...72,678,066

G

sodium voltage-gated channel alpha subunit 2

ClinVar Annotator: match by term: Jeune thoracic dystrophy

PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More...

NCBI chr15:71,864,753...71,999,219
Ensembl chr15:71,864,784...71,999,211

G

sodium voltage-gated channel alpha subunit 3

ClinVar Annotator: match by term: Jeune thoracic dystrophy

PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More...

NCBI chr15:71,717,330...71,824,190
Ensembl chr15:71,717,334...71,824,160

G

sodium voltage-gated channel alpha subunit 9

ClinVar Annotator: match by term: Jeune thoracic dystrophy

PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More...

NCBI chr15:72,745,706...72,912,352
Ensembl chr15:72,748,705...72,912,382

G

SAFB like transcription modulator

ClinVar Annotator: match by term: Jeune thoracic dystrophy

NCBI chr 1:113,085,095...113,140,604
Ensembl chr 1:113,084,008...113,136,599

G

SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1

NCBI chr 8:125,410,221...125,488,471
Ensembl chr 8:125,409,507...125,488,153

G

spectrin alpha, non-erythrocytic 1

ClinVar Annotator: match by term: Jeune thoracic dystrophy

PMID:24183451 PMID:28492532 PMID:29068549

NCBI chr 1:268,936,120...269,002,261
Ensembl chr 1:268,936,025...269,002,256

G

transmembrane protein 123

ClinVar Annotator: match by term: Jeune thoracic dystrophy

PMID:23339108 PMID:24781753 PMID:28492532 PMID:31413057 PMID:32753734

NCBI chr 9:33,084,820...33,160,346
Ensembl chr 9:33,084,822...33,160,311

G

TRAF3 interacting protein 1

ClinVar Annotator: match by term: Jeune thoracic dystrophy

PMID:16199547 PMID:21945076 PMID:26487268 PMID:28492532 PMID:29068549

NCBI chr15:137,863,612...137,912,325
Ensembl chr15:137,863,609...137,912,477

G

transient receptor potential cation channel subfamily C member 6

ClinVar Annotator: match by term: Jeune thoracic dystrophy

PMID:23339108 PMID:24781753 PMID:28492532 PMID:31413057 PMID:32753734

NCBI chr 9:32,332,768...32,439,184
Ensembl chr 9:32,332,771...32,439,184

G

tetratricopeptide repeat domain 21B

ClinVar Annotator: match by term: Jeune thoracic dystrophy | ClinVar Annotator: match by term: Jeune's syndrome | ClinVar Annotator: match by term: Short rib-polydactyly syndrome
ClinVar Annotator: match by term: Jeune thoracic dystrophy | ClinVar Annotator: match by term: Jeune's syndrome | ClinVar Annotator: match by term: Short rib-polydactyly syndrome | ClinVar Annotator: match by term: Thoracic pelvic phalangeal dystrophy

PMID:9536098 PMID:15133511 PMID:16199547 PMID:16865694 PMID:17347258 More...

NCBI chr15:72,430,250...72,512,503
Ensembl chr15:72,430,726...72,512,491

G

WD repeat domain 19

ClinVar Annotator: match by term: Jeune thoracic dystrophy | ClinVar Annotator: match by term: Jeune's syndrome | ClinVar Annotator: match by term: Short rib-polydactyly syndrome

PMID:16199547 PMID:22019273 PMID:23559409 PMID:23683095 PMID:24504730 More...

NCBI chr 8:30,453,969...30,553,699
Ensembl chr 8:30,463,862...30,553,703

G

WD repeat domain 35

ClinVar Annotator: match by term: Jeune thoracic dystrophy | ClinVar Annotator: match by term: Short rib-polydactyly syndrome

PMID:22486404 PMID:24033266 PMID:25741868 PMID:25914204 PMID:27158779 More...

NCBI chr 3:118,209,112...118,279,050
Ensembl chr 3:118,209,139...118,269,452

G

Yes1 associated transcriptional regulator

ClinVar Annotator: match by term: Jeune thoracic dystrophy

PMID:23339108 PMID:24781753 PMID:28492532 PMID:31413057 PMID:32753734

NCBI chr 9:32,811,629...32,924,926
Ensembl chr 9:32,811,226...32,925,606

asphyxiating thoracic dystrophy 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP binding cassette subfamily G member 5

ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 1

NCBI chr 3:96,616,304...96,656,893
Ensembl chr 3:96,616,246...96,656,889

G

cysteine and serine rich nuclear protein 3

ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome

PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More...

NCBI chr15:72,040,854...72,242,269
Ensembl chr15:72,141,621...72,233,832

G

dynein cytoplasmic 2 heavy chain 1

ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 1 | ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome

PMID:19442771 PMID:23339108 PMID:23456818 PMID:25741868 PMID:26874042 More...

NCBI chr 9:33,720,920...34,039,954
Ensembl chr 9:33,720,877...34,040,188

G

dynein 2 intermediate chain 1

ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome

PMID:25741868 PMID:28492532 PMID:29068549

NCBI chr18:507,163...555,142
Ensembl chr18:508,276...553,968

G

dynein cytoplasmic 2 light intermediate chain 1

ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 1

PMID:9536098 PMID:17576681 PMID:26077881 PMID:26130459 PMID:28492532 More...

NCBI chr 3:96,656,099...96,703,282
Ensembl chr 3:96,654,415...96,703,237

G

EvC ciliary complex subunit 2

ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome

PMID:17024374 PMID:19251731 PMID:19810119 PMID:19876929 PMID:28492532 More...

NCBI chr 8:4,893,480...5,023,655
Ensembl chr 8:4,893,217...5,023,644

G

polypeptide N-acetylgalactosaminyltransferase 3

ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome

PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More...

NCBI chr15:72,276,502...72,343,524
Ensembl chr15:72,293,614...72,342,435

G

intraflagellar transport 140

ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome | ClinVar Annotator: match by term: Short-rib thoracic dysplasia 1 with or without polydactyly

PMID:9536098 PMID:17576681 PMID:22503633 PMID:23418020 PMID:24009529 More...

NCBI chr 3:40,309,298...40,372,139
Ensembl chr 3:40,309,635...40,372,135

G

intraflagellar transport 172

ClinVar Annotator: match by term: Short-rib thoracic dysplasia 1 with or without polydactyly

PMID:25741868 PMID:28492532

NCBI chr 3:111,683,674...111,718,504
Ensembl chr 3:111,683,669...111,718,970

G

intraflagellar transport 80

ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome

PMID:9536098 PMID:17576681 PMID:19648123 PMID:25741868 PMID:28492532 More...

NCBI chr13:99,943,203...100,078,148
Ensembl chr13:99,943,208...100,078,148

G

lamin B receptor

ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome

PMID:25741868 PMID:28492532 PMID:28600779 PMID:29068549

NCBI chr10:13,389,896...13,416,831
Ensembl chr10:13,386,946...13,416,759

G

NIMA related kinase 1

ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 1

NCBI chr14:20,144,631...20,332,248
Ensembl chr14:20,144,659...20,332,245

G

RAB34, member RAS oncogene family

ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome

PMID:25741868 PMID:37619988

NCBI chr12:44,951,989...44,956,458
Ensembl chr12:44,951,210...44,956,119

G

sodium voltage-gated channel alpha subunit 1

ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome

PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More...

NCBI chr15:72,529,866...72,696,715
Ensembl chr15:72,529,875...72,678,066

G

sodium voltage-gated channel alpha subunit 2

ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome

PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More...

NCBI chr15:71,864,753...71,999,219
Ensembl chr15:71,864,784...71,999,211

G

sodium voltage-gated channel alpha subunit 3

ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome

PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More...

NCBI chr15:71,717,330...71,824,190
Ensembl chr15:71,717,334...71,824,160

G

sodium voltage-gated channel alpha subunit 9

ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome

PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More...

NCBI chr15:72,745,706...72,912,352
Ensembl chr15:72,748,705...72,912,382

G

tetratricopeptide repeat domain 21B

ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome

PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More...

NCBI chr15:72,430,250...72,512,503
Ensembl chr15:72,430,726...72,512,491

G

WD repeat domain 19

ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome

PMID:22019273 PMID:23559409 PMID:23683095 PMID:25741868 PMID:26275793 More...

NCBI chr 8:30,453,969...30,553,699
Ensembl chr 8:30,463,862...30,553,703

asphyxiating thoracic dystrophy 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

intraflagellar transport 80

ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 2 | ClinVar Annotator: match by term: SHORT-RIB THORACIC DYSPLASIA 2 WITH OR WITHOUT POLYDACTYLY

PMID:9536098 PMID:16199547 PMID:17468754 PMID:17576681 PMID:19610081 More...

NCBI chr13:99,943,203...100,078,148
Ensembl chr13:99,943,208...100,078,148

asphyxiating thoracic dystrophy 3

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

BAG cochaperone 3

ClinVar Annotator: match by term: Short-rib polydactyly syndrome type I

PMID:21361913 PMID:23861362 PMID:24033266 PMID:25741868 PMID:28492532

NCBI chr14:129,510,240...129,533,998
Ensembl chr14:129,466,905...129,533,993

G

dynein cytoplasmic 1 heavy chain 1

ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 3

PMID:25741868 PMID:28492532

G

dynein cytoplasmic 2 heavy chain 1

ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 3 | ClinVar Annotator: match by term: DYNC2H1-related disorder | ClinVar Annotator: match by term: Short-rib thoracic dysplasia 3 with or without polydactyly

PMID:6938784 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19361615 More...

NCBI chr 9:33,720,920...34,039,954
Ensembl chr 9:33,720,877...34,040,188

G

dynein 2 intermediate chain 1

ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 3 | ClinVar Annotator: match by term: Short-rib thoracic dysplasia 3 with or without polydactyly

PMID:25741868 PMID:28492532 PMID:29068549

NCBI chr18:507,163...555,142
Ensembl chr18:508,276...553,968

G

dynein 2 intermediate chain 2

ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 3

NCBI chr 1:269,002,252...269,030,978
Ensembl chr 1:269,002,261...269,030,719

G

family with sequence similarity 98 member C

ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 3

NCBI chr 6:47,315,406...47,319,486
Ensembl chr 6:47,315,417...47,319,485

G

intraflagellar transport 80

OMIM:613091

NCBI chr13:99,943,203...100,078,148
Ensembl chr13:99,943,208...100,078,148

G

kinesin family member 24

ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 3

NCBI chr10:32,454,615...32,552,763
Ensembl chr10:32,467,072...32,552,375

G

transmembrane protein 256-like

ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 3

NCBI chr 1:73,130,766...73,131,276

G

NIMA related kinase 1

ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 3 | ClinVar Annotator: match by term: Short-rib thoracic dysplasia 3 with or without polydactyly

PMID:21211617 PMID:25741868

NCBI chr14:20,144,631...20,332,248
Ensembl chr14:20,144,659...20,332,245

G

phosphate cytidylyltransferase 1A, choline

ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 3

NCBI chr13:133,774,548...133,798,920
Ensembl chr13:133,774,574...133,800,038

asphyxiating thoracic dystrophy 4

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

tetratricopeptide repeat domain 21B

ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 4 | ClinVar Annotator: match by term: SHORT-RIB THORACIC DYSPLASIA 4 WITH OR WITHOUT POLYDACTYLY

PMID:9536098 PMID:16199547 PMID:17576681 PMID:18327258 PMID:18414213 More...

NCBI chr15:72,430,250...72,512,503
Ensembl chr15:72,430,726...72,512,491

asphyxiating thoracic dystrophy 5

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

WD repeat domain 19

ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 5 | ClinVar Annotator: match by term: SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY

PMID:9536098 PMID:16199547 PMID:17576681 PMID:19430947 PMID:22019273 More...

NCBI chr 8:30,453,969...30,553,699
Ensembl chr 8:30,463,862...30,553,703

atelosteogenesis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

solute carrier family 26 member 2

ClinVar Annotator: match by term: Atelosteogenesis

NCBI chr 2:150,996,868...151,027,483
Ensembl chr 2:150,996,686...151,022,148

Atelosteogenesis Type 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

filamin B

ClinVar Annotator: match by term: Atelosteogenesis type I | ClinVar Annotator: match by term: Spondylohumerofemoral hypoplasia

PMID:14991055 PMID:16752402 PMID:20301736 PMID:22190451 PMID:24624349 More...

NCBI chr13:39,789,259...39,938,751
Ensembl chr13:39,789,739...39,938,746

Atelosteogenesis Type 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

solute carrier family 26 member 2

ClinVar Annotator: match by term: Atelosteogenesis type 2 | ClinVar Annotator: match by term: Atelosteogenesis type II | ClinVar Annotator: match by term: De la Chapelle dysplasia | ClinVar Annotator: match by term: NEONATAL OSSEOUS DYSPLASIA I | ClinVar Annotator: match by term: Neonatal osseous dysplasia 1

PMID:4644462 PMID:7695699 PMID:7923357 PMID:8218237 PMID:8528239 More...

NCBI chr 2:150,996,868...151,027,483
Ensembl chr 2:150,996,686...151,022,148

Atelosteogenesis Type 3

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

filamin B

ClinVar Annotator: match by term: Atelosteogenesis type 3 | ClinVar Annotator: match by term: Atelosteogenesis type III

PMID:9536098 PMID:14991055 PMID:17576681 PMID:20301736 PMID:22190451 More...

NCBI chr13:39,789,259...39,938,751
Ensembl chr13:39,789,739...39,938,746

autosomal dominant craniodiaphyseal dysplasia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

sclerostin

ClinVar Annotator: match by term: Craniodiaphyseal dysplasia, autosomal dominant

PMID:17853455 PMID:21221996 PMID:25741868

NCBI chr12:19,354,912...19,360,348
Ensembl chr12:19,355,234...19,360,352

autosomal dominant craniometaphyseal dysplasia

term browser

Symbol

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

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

NCBI chr16:4,095,582...4,271,073
Ensembl chr16:4,105,165...4,271,170

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 chr16:4,063,037...4,097,112
Ensembl chr16:4,063,071...4,093,198

autosomal dominant osteopetrosis 1

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: Autosomal dominant osteopetrosis 1 | ClinVar Annotator: match by term: OSTEOPETROSIS, AUTOSOMAL DOMINANT, TYPE I

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

NCBI chr 2:4,533,721...4,653,997
Ensembl chr 2:4,533,614...4,653,944

autosomal dominant osteopetrosis 2

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

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

NCBI chr 3:40,397,807...40,420,960
Ensembl chr 3:40,399,639...40,420,957

Autosomal Dominant Osteopetrosis 3

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

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 chr12:17,984,169...18,035,377
Ensembl chr12:17,993,036...18,035,375

autosomal recessive craniometaphyseal dysplasia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

gap junction protein alpha 1

ClinVar Annotator: match by term: Craniometaphyseal dysplasia, autosomal recessive

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

NCBI chr 1:40,988,818...41,002,129
Ensembl chr 1:40,988,528...41,002,156

autosomal recessive cutis laxa type IC

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

latent transforming growth factor beta binding protein 4

ClinVar Annotator: match by term: Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities | ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type IC

PMID:16199547 PMID:19836010 PMID:22829427 PMID:24033266 PMID:25741868 More...

NCBI chr 6:48,831,018...48,861,503
Ensembl chr 6:48,831,014...48,861,507

autosomal recessive osteopetrosis 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

coiled-coil domain containing 154

OMIM:259700

NCBI chr 3:40,420,339...40,429,787
Ensembl chr 3:40,422,892...40,429,844

G

pleckstrin homology and RUN domain containing M1

ClinVar Annotator: match by term: Autosomal recessive osteopetrosis 1

PMID:35342016 PMID:36195244

NCBI chr12:17,984,169...18,035,377
Ensembl chr12:17,993,036...18,035,375

G

T cell immune regulator 1, ATPase H+ transporting V0 subunit a3

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

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

NCBI chr 2:4,844,627...4,860,562
Ensembl chr 2:4,844,637...4,860,498

autosomal recessive osteopetrosis 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

TNF superfamily member 11

ClinVar Annotator: match by term: Autosomal recessive osteopetrosis 2 | ClinVar Annotator: match by term: Osteopetrosis osteoclast-poor

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

NCBI chr11:24,468,011...24,505,421
Ensembl chr11:24,468,110...24,505,477

autosomal recessive osteopetrosis 3

term browser

Symbol

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

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

NCBI chr 4:51,194,686...51,211,436
Ensembl chr 4:51,193,756...51,211,259

autosomal recessive osteopetrosis 4

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: Autosomal recessive osteopetrosis 4 | ClinVar Annotator: match by term: Osteopetrosis infantile malignant 2

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

NCBI chr 3:40,397,807...40,420,960
Ensembl chr 3:40,399,639...40,420,957

autosomal recessive osteopetrosis 5

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

osteoclastogenesis associated transmembrane protein 1

ClinVar Annotator: match by term: Autosomal recessive osteopetrosis 5 | ClinVar Annotator: match by term: Osteopetrosis infantile malignant 3

PMID:12627228 PMID:16813530 PMID:25741868 PMID:28492532 PMID:28612835 More...

NCBI chr 1:74,139,326...74,181,165
Ensembl chr 1:74,139,330...74,181,084

autosomal recessive osteopetrosis 6

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

pleckstrin homology and RUN domain containing M1

ClinVar Annotator: match by term: Autosomal recessive osteopetrosis 6

PMID:17404618 PMID:25741868

NCBI chr12:17,984,169...18,035,377
Ensembl chr12:17,993,036...18,035,375

autosomal recessive osteopetrosis 7

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

TNF receptor superfamily member 11a

ClinVar Annotator: match by term: Autosomal recessive osteoclast-poor osteopetrosis with hypogammaglobulinemia | ClinVar Annotator: match by term: Autosomal recessive osteopetrosis 7

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

NCBI chr 1:159,128,039...159,187,476
Ensembl chr 1:159,128,038...159,187,481

autosomal recessive osteopetrosis 8

term browser

Symbol

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

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

NCBI chr18:46,064,575...46,142,983
Ensembl chr18:46,064,580...46,142,945

Autosomal Recessive Osteopetrosis 9

term browser

Symbol

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 chr18:6,149,459...6,166,622
Ensembl chr18:6,149,459...6,165,212

autosomal recessive spondyloepiphyseal dysplasia tarda

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

cellular communication network factor 6

ClinVar Annotator: match by term: Autosomal recessive spondyloepiphyseal dysplasia tarda

PMID:10471507 PMID:22791401 PMID:25741868 PMID:28492532 PMID:29258992

NCBI chr 1:78,005,442...78,020,595
Ensembl chr 1:78,005,847...78,019,709

axial spondylometaphyseal dysplasia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

cilia and flagella associated protein 410

ClinVar Annotator: match by term: Axial SMD | ClinVar Annotator: match by term: Axial spondylometaphyseal dysplasia

PMID:11702989 PMID:20503334 PMID:21910225 PMID:23105016 PMID:25741868 More...

NCBI chr13:207,196,884...207,204,741
Ensembl chr13:207,196,117...207,204,719

Beemer-Langer syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

dynein cytoplasmic 2 heavy chain 1

ClinVar Annotator: match by term: Type IV short rib polydactyly syndrome

PMID:25741868 PMID:26826164 PMID:28492532 PMID:29068549

NCBI chr 9:33,720,920...34,039,954
Ensembl chr 9:33,720,877...34,040,188

G

EvC ciliary complex subunit 2

ClinVar Annotator: match by term: Type IV short rib polydactyly syndrome

PMID:17024374 PMID:19810119 PMID:19876929 PMID:25741868 PMID:28492532 More...

NCBI chr 8:4,893,480...5,023,655
Ensembl chr 8:4,893,217...5,023,644

G

intraflagellar transport 80

ClinVar Annotator: match by term: Type IV short rib polydactyly syndrome

PMID:28492532 PMID:29068549

NCBI chr13:99,943,203...100,078,148
Ensembl chr13:99,943,208...100,078,148

G

NIMA related kinase 1

ClinVar Annotator: match by term: Type IV short rib polydactyly syndrome

PMID:25741868 PMID:29068549

NCBI chr14:20,144,631...20,332,248
Ensembl chr14:20,144,659...20,332,245

G

tetratricopeptide repeat domain 21B

ClinVar Annotator: match by term: Type IV short rib polydactyly syndrome

PMID:18327258 PMID:21068128 PMID:21258341 PMID:23559409 PMID:24876116 More...

NCBI chr15:72,430,250...72,512,503
Ensembl chr15:72,430,726...72,512,491

G

WD repeat domain 19

ClinVar Annotator: match by term: Type IV short rib polydactyly syndrome

PMID:16199547 PMID:22019273 PMID:23559409 PMID:23683095 PMID:26275793 More...

NCBI chr 8:30,453,969...30,553,699
Ensembl chr 8:30,463,862...30,553,703

Beukes hip dysplasia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ankyrin repeat domain 37

ClinVar Annotator: match by term: Hip dysplasia, Beukes type

NCBI chr15:46,445,789...46,450,046
Ensembl chr15:46,445,881...46,450,097

G

cilia and flagella associated protein 96

ClinVar Annotator: match by term: Hip dysplasia, Beukes type | ClinVar Annotator: match by term: Osteoarthropathy, premature degenerative, of hip

PMID:25741868 PMID:28492532 PMID:33473208

NCBI chr15:46,470,680...46,612,173
Ensembl chr15:46,470,765...46,490,006

G

UFM1 specific peptidase 2

ClinVar Annotator: match by term: Hip dysplasia, Beukes type | ClinVar Annotator: match by term: Osteoarthropathy, premature degenerative, of hip

PMID:2389793 PMID:21228277 PMID:25741868 PMID:26428751 PMID:28492532 More...

NCBI chr15:46,448,918...46,470,616
Ensembl chr15:46,448,904...46,470,572

Boomerang dysplasia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

filamin B

ClinVar Annotator: match by term: Boomerang dysplasia | ClinVar Annotator: match by term: Boomerang-like skeletal dysplasia

PMID:12955767 PMID:14991055 PMID:17510210 PMID:25741868 PMID:28492532

NCBI chr13:39,789,259...39,938,751
Ensembl chr13:39,789,739...39,938,746

brachyolmia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

latent transforming growth factor beta binding protein 3

CTD Direct Evidence: marker/mechanism

NCBI chr 2:6,701,455...6,720,191
Ensembl chr 2:6,701,510...6,720,153

G

3'-phosphoadenosine 5'-phosphosulfate synthase 2

ClinVar Annotator: match by term: Brachyolmia

PMID:22791835 PMID:23633440 PMID:24033266 PMID:25741868 PMID:28492532

NCBI chr14:99,718,299...99,816,346
Ensembl chr14:99,685,578...99,808,381

G

transient receptor potential cation channel subfamily V member 4

ClinVar Annotator: match by term: Brachyolmia | ClinVar Annotator: match by term: Brachyrachia

PMID:4056805 PMID:8179305 PMID:18587396 PMID:19661060 PMID:19666518 More...

NCBI chr14:41,125,819...41,169,582
Ensembl chr14:41,125,869...41,169,578

Brachyolmia Type 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

transient receptor potential cation channel subfamily V member 4

ClinVar Annotator: match by term: Spondyloepiphyseal dysplasia Maroteaux type

PMID:4056805 PMID:6628444 PMID:8179305 PMID:12884428 PMID:14755468 More...

NCBI chr14:41,125,819...41,169,582
Ensembl chr14:41,125,869...41,169,578

Brachyolmia Type 3

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

transient receptor potential cation channel subfamily V member 4

ClinVar Annotator: match by term: Brachyolmia Type 3 | ClinVar Annotator: match by term: Brachyolmia autosomal dominant

PMID:4056805 PMID:8179305 PMID:18587396 PMID:19661060 PMID:19666518 More...

NCBI chr14:41,125,819...41,169,582
Ensembl chr14:41,125,869...41,169,578

brachyolmia-amelogenesis imperfecta syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

latent transforming growth factor beta binding protein 3

ClinVar Annotator: match by term: Brachyolmia-amelogenesis imperfecta syndrome | ClinVar Annotator: match by term: Dental anomalies and short stature | ClinVar Annotator: match by term: Platyspondyly with amelogenesis imperfecta | ClinVar Annotator: match by term: Tooth agenesis, selective, 6

PMID:9536098 PMID:11790802 PMID:16199547 PMID:17576681 PMID:19213025 More...

NCBI chr 2:6,701,455...6,720,191
Ensembl chr 2:6,701,510...6,720,153

G

SCY1 like pseudokinase 1

ClinVar Annotator: match by term: Brachyolmia-amelogenesis imperfecta syndrome

PMID:25741868 PMID:28492532

NCBI chr 2:6,720,047...6,733,477
Ensembl chr 2:6,716,115...6,733,438

Braddock-Carey Syndrome 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

kinesin family member 15

ClinVar Annotator: match by term: Braddock-carey syndrome 2

PMID:25741868 PMID:28150392

NCBI chr13:27,966,586...28,041,121
Ensembl chr13:27,966,586...28,041,451

BRAIN ABNORMALITIES, NEURODEGENERATION, AND DYSOSTEOSCLEROSIS

term browser

Symbol

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 chr 2:151,102,138...151,130,311
Ensembl chr 2:151,102,147...151,147,633

Bronchomalacia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ryanodine receptor 1

ClinVar Annotator: match by term: Bronchomalacia

PMID:16835904 PMID:24033266 PMID:25741868

NCBI chr 6:47,339,759...47,458,457
Ensembl chr 6:47,343,768...47,458,458

Bruck syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

FKBP prolyl isomerase 10

ClinVar Annotator: match by term: Bruck syndrome

PMID:16199547 PMID:22689593 PMID:22949511 PMID:25741868 PMID:28492532 More...

NCBI chr12:20,872,155...20,881,604
Ensembl chr12:20,872,158...20,882,644

G

procollagen-lysine,2-oxoglutarate 5-dioxygenase 2

ClinVar Annotator: match by term: OSTEOGENESIS IMPERFECTA WITH CONGENITAL JOINT CONTRACTURES

PMID:25086671 PMID:25741868 PMID:28492532 PMID:37076969

NCBI chr13:86,402,673...86,513,167
Ensembl chr13:86,401,244...86,513,105

Bruck Syndrome 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

collagen type I alpha 2 chain

ClinVar Annotator: match by term: Bruck syndrome 1

NCBI chr 9:74,174,484...74,210,407
Ensembl chr 9:74,173,931...74,210,397

G

FKBP prolyl isomerase 10

ClinVar Annotator: match by term: Arthrogryposis-like disorder | ClinVar Annotator: match by term: Bruck syndrome 1

PMID:9129737 PMID:9481655 PMID:9927692 PMID:20362275 PMID:20696291 More...

NCBI chr12:20,872,155...20,881,604
Ensembl chr12:20,872,158...20,882,644

Bruck Syndrome 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

procollagen-lysine,2-oxoglutarate 5-dioxygenase 2

ClinVar Annotator: match by term: Bruck syndrome 2 | ClinVar Annotator: match by term: PLOD2-related condition

PMID:9927692 PMID:12881513 PMID:15523624 PMID:22689593 PMID:25086671 More...

NCBI chr13:86,402,673...86,513,167
Ensembl chr13:86,401,244...86,513,105

Buschke-Ollendorff syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

elastin

NCBI chr 3:11,214,194...11,245,891
Ensembl chr 3:11,214,205...11,244,897

G

LEM domain containing 3

no_association

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

OMIM
ClinVar
RGD

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

NCBI chr 5:29,596,334...29,672,704
Ensembl chr 5:29,596,334...29,673,875

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 5:6,083,793...6,105,921
Ensembl chr 5:6,083,444...6,105,924

G

collagen type I alpha 1 chain

ClinVar Annotator: match by term: Caffey Disease | ClinVar Annotator: match by term: Infantile cortical hyperostosis

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

NCBI chr12:26,379,087...26,397,180
Ensembl chr12:26,379,090...26,397,004

calvarial doughnut lesions with bone fragility

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

sphingomyelin synthase 2

ClinVar Annotator: match by term: Calvarial doughnut lesions with bone fragility and spondylometaphyseal dysplasia | ClinVar Annotator: match by term: Doughnut lesions of skull, familial

PMID:19839042 PMID:25741868 PMID:28492532 PMID:30779713 PMID:32028018

NCBI chr 8:114,052,726...114,145,946
Ensembl chr 8:114,057,603...114,076,154

G

structural maintenance of chromosomes 1A

ClinVar Annotator: match by term: CDL

NCBI chr X:46,143,738...46,202,187
Ensembl chr X:46,144,920...46,218,543

campomelic dysplasia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

potassium inwardly rectifying channel subfamily J member 2

ClinVar Annotator: match by term: Camptomelic dysplasia

PMID:9002675 PMID:10213041 PMID:11371614 PMID:15060123 PMID:25983619 More...

NCBI chr12:10,351,959...10,380,631
Ensembl chr12:10,351,699...10,362,244

G

SRY-box transcription factor 9

ClinVar Annotator: match by term: Acampomelic campomelic dysplasia | ClinVar Annotator: match by term: Acampomelic campomelic dysplasia with autosomal sex reversal | ClinVar Annotator: match by term: Campomelic Dysplasia | ClinVar Annotator: match by term: Campomelic dysplasia with autosomal sex reversal | ClinVar Annotator: match by term: Camptomelic dysplasia | ClinVar Annotator: match by term: SOX9-related condition

PMID:1809232 PMID:7485151 PMID:7990924 PMID:8001137 PMID:8894698 More...

NCBI chr12:8,642,154...8,647,315
Ensembl chr12:8,642,158...8,647,315

Campomelic Dysplasia with Autosomal Sex Reversal

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

SRY-box transcription factor 9

ClinVar Annotator: match by term: Campomelic dysplasia with autosomal sex reversal

PMID:1809232 PMID:7485151 PMID:7990924 PMID:8001137 PMID:8894698 More...

NCBI chr12:8,642,154...8,647,315
Ensembl chr12:8,642,158...8,647,315

Camurati-Engelmann disease

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: Diaphyseal dysplasia

NCBI chr 2:4,533,721...4,653,997
Ensembl chr 2:4,533,614...4,653,944

G

melanocyte inducing transcription factor

OMIM:131300 | OMIM:606631

NCBI chr13:51,177,356...51,422,096
Ensembl chr13:51,178,203...51,422,093

G

transforming growth factor beta 1

ClinVar Annotator: match by term: Diaphyseal dysplasia

PMID:10973241 PMID:11062463 PMID:11278244 PMID:11810278 PMID:12493741 More...

NCBI chr 6:49,332,169...49,348,642
Ensembl chr 6:49,332,173...49,349,046

Carey-Fineman-Ziter syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

myomaker, myoblast fusion factor

ClinVar Annotator: match by term: Congenital nonprogressive myopathy with Moebius and Robin sequences | ClinVar Annotator: match by term: MYOPATHY, CONGENITAL NONPROGRESSIVE, WITH MOEBIUS SEQUENCE AND ROBIN SEQUENCE

PMID:7131178 PMID:25741868 PMID:28681861 PMID:29560417 PMID:30016436 More...

NCBI chr 1:273,101,674...273,111,721
Ensembl chr 1:273,101,678...273,111,727

Carey-Fineman-Ziter Syndrome 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

myomaker, myoblast fusion factor

ClinVar Annotator: match by term: Carey-Fineman-Ziter syndrome 1

PMID:7131178 PMID:25741868 PMID:28681861 PMID:29560417 PMID:30065953

NCBI chr 1:273,101,674...273,111,721
Ensembl chr 1:273,101,678...273,111,727

Carey-Fineman-Ziter Syndrome 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

uncharacterized LOC110261530

ClinVar Annotator: match by term: Carey-Fineman-Ziter syndrome 2

NCBI chr 7:39,215,933...39,217,275
Ensembl chr 7:39,216,513...39,216,779

cartilage-hair hypoplasia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

coiled-coil domain containing 107

ClinVar Annotator: match by term: Cartilage-hair hypoplasia

PMID:8034306 PMID:8444246 PMID:9156319 PMID:10026268 PMID:11207361 More...

NCBI chr 1:236,380,572...236,383,671
Ensembl chr 1:236,380,577...236,383,666

CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

isoleucyl-tRNA synthetase 2, mitochondrial

ClinVar Annotator: match by term: Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia

PMID:8409271 PMID:25130867 PMID:25741868 PMID:28328135 PMID:28492532 More...

NCBI chr10:9,685,641...9,739,816
Ensembl chr10:9,685,678...9,737,159

Catel Manzke syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

kynureninase

ClinVar Annotator: match by term: Catel-Manzke syndrome | ClinVar Annotator: match by term: MICROGNATHIA DIGITAL SYNDROME

PMID:25741868 PMID:31923704 PMID:33942433

NCBI chr15:8,847,335...8,982,951
Ensembl chr15:8,850,544...8,982,891

G

TDP-glucose 4,6-dehydratase

ClinVar Annotator: match by term: Catel-Manzke syndrome | ClinVar Annotator: match by term: Index finger anomaly with Pierre Robin syndrome

PMID:9777339 PMID:18501694 PMID:22887726 PMID:25480037 PMID:25741868 More...

NCBI chr11:63,695,612...63,716,614
Ensembl chr11:63,695,638...63,716,568

cherubism

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

adducin 1

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 8:1,627,146...1,710,653
Ensembl chr 8:1,627,062...1,710,650

G

ATP synthase membrane subunit e

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 8:112,092...113,526
Ensembl chr 8:110,605...113,510

G

complexin 1

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 8:197,876...231,721
Ensembl chr 8:197,882...205,371

G

C-terminal binding protein 1

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 8:475,164...496,510
Ensembl chr 8:475,888...496,002

G

diacylglycerol kinase theta

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 8:313,325...325,089
Ensembl chr 8:313,329...325,095

G

docking protein 7

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 8:2,089,645...2,119,076
Ensembl chr 8:2,089,670...2,122,685

G

family with sequence similarity 193 member A

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 8:1,388,442...1,523,935
Ensembl chr 8:1,388,266...1,523,928

G

family with sequence similarity 53 member A

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 8:777,081...796,383
Ensembl chr 8:776,661...795,695

G

fibroblast growth factor receptor 3

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 8:879,151...894,968
Ensembl chr 8:879,159...894,964

G

fibroblast growth factor receptor like 1

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 8:365,367...378,384
Ensembl chr 8:365,181...378,375

G

cyclin G associated kinase

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 8:240,818...296,989
Ensembl chr 8:240,822...296,956

G

G protein-coupled receptor kinase 4

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 8:1,737,960...1,792,390
Ensembl chr 8:1,738,333...1,792,374

G

HAUS augmin like complex subunit 3

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 8:1,187,149...1,198,517
Ensembl chr 8:1,073,889...1,197,086

G

HGF activator

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 8:2,077,164...2,084,506
Ensembl chr 8:2,077,176...2,084,507

G

huntingtin

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 8:1,809,768...1,934,002
Ensembl chr 8:1,809,785...1,934,024

G

alpha-L-iduronidase

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 8:334,604...351,970
Ensembl chr 8:334,617...351,969

G

leucine zipper and EF-hand containing transmembrane protein 1

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 8:898,178...926,500
Ensembl chr 8:898,181...926,593

G

macrophage erythroblast attacher, E3 ubiquitin ligase

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 8:543,281...568,437
Ensembl chr 8:543,291...568,452

G

major facilitator superfamily domain containing 10

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 8:1,710,524...1,715,015
Ensembl chr 8:1,710,530...1,715,760

G

Myb/SANT DNA binding domain containing 1

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 8:1,934,960...1,944,754
Ensembl chr 8:1,938,397...1,947,985

G

MAX dimerization protein 4

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 8:1,203,163...1,216,807
Ensembl chr 8:1,203,172...1,216,725

G

myosin light chain 5

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 8:115,986...120,297
Ensembl chr 8:116,711...120,301

G

N-acetyltransferase 8 like

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 8:1,063,917...1,072,191
Ensembl chr 8:1,063,824...1,072,189

G

negative elongation factor complex member A

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 8:1,018,443...1,039,091
Ensembl chr 8:1,018,453...1,039,134

G

NELL2 interacting cell ontogeny regulator 1

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 8:1,055,115...1,058,203
Ensembl chr 8:1,054,236...1,058,200

G

NK1 homeobox 1

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 8:608,327...611,859
Ensembl chr 8:608,098...611,859

G

NOP14 nucleolar protein

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 8:1,717,019...1,737,971
Ensembl chr 8:1,716,826...1,737,902

G

nuclear receptor binding SET domain protein 2

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 8:938,832...1,018,032
Ensembl chr 8:964,893...1,018,028

G

polycomb group ring finger 3

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 8:140,435...189,796
Ensembl chr 8:140,446...182,261

G

phosphodiesterase 6B

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 8:80,378...111,960
Ensembl chr 8:80,378...110,672

G

phosphatidylinositol glycan anchor biosynthesis class G

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 8:21,437...44,415
Ensembl chr 8:20,646...43,330

G

DNA polymerase nu

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 8:1,073,337...1,198,538
Ensembl chr 8:1,073,889...1,197,086

G

regulator of G protein signaling 12

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 8:1,971,390...2,074,970
Ensembl chr 8:1,963,308...2,075,971

G

Ras like without CAAX 1

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 4:94,117,721...94,127,882
Ensembl chr 4:94,117,882...94,127,384

G

ring finger protein 212

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 8:393,707...413,952
Ensembl chr 8:399,715...413,896

G

ring finger protein 4

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 8:1,353,532...1,380,637
Ensembl chr 8:1,353,658...1,380,634

G

SH3 domain binding protein 2

ClinVar Annotator: match by term: Cherubism | ClinVar Annotator: match by term: Fibrous dysplasia of jaw

PMID:9536098 PMID:11381256 PMID:12900899 PMID:14577811 PMID:15507112 More...

NCBI chr 8:1,583,169...1,619,038
Ensembl chr 8:1,583,193...1,619,037

G

solute carrier family 26 member 1

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 8:335,420...345,955
Ensembl chr 8:335,427...342,444

G

solute carrier family 49 member 3

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 8:120,088...128,420
Ensembl chr 8:120,102...128,425

G

spondin 2

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 8:447,176...450,829
Ensembl chr 8:447,180...450,538

G

transforming acidic coiled-coil containing protein 3

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 8:825,433...835,425
Ensembl chr 8:824,999...837,322

G

transmembrane protein 129, E3 ubiquitin ligase

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 8:802,940...818,161
Ensembl chr 8:802,940...818,216

G

transmembrane protein 129, E3 ubiquitin ligase

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 8:819,762...826,233
Ensembl chr 8:819,764...826,192

G

transmembrane protein 175

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 8:295,693...313,974
Ensembl chr 8:297,007...313,972

G

TNFAIP3 interacting protein 2

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 8:1,530,534...1,554,677
Ensembl chr 8:1,533,429...1,554,683

G

UV stimulated scaffold protein A

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 8:573,299...602,617
Ensembl chr 8:573,426...601,944

G

zinc finger FYVE-type containing 28

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 8:1,225,417...1,312,938
Ensembl chr 8:1,225,429...1,312,521

CHITAYAT SYNDROME

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ETS2 repressor factor

ClinVar Annotator: match by term: Chitayat syndrome

PMID:8418638 PMID:23354439 PMID:25741868 PMID:26097063 PMID:27738187 More...

NCBI chr 6:49,678,858...49,686,422
Ensembl chr 6:49,678,888...49,685,538

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 chr13:29,730,271...29,735,616
Ensembl chr13:29,707,371...29,735,586

G

parathyroid hormone 1 receptor

ClinVar Annotator: match by term: Blomstrand lethal osteochondrodysplasia | ClinVar Annotator: match by term: Chondrodysplasia Blomstrand type

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

NCBI chr13:29,749,940...29,775,361
Ensembl chr13:29,753,326...29,775,348

chondrodysplasia punctata

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

arylsulfatase E (chondrodysplasia punctata 1)

susceptibility

NCBI chr X:131,769...156,083
Ensembl chr X:131,773...155,841

G

EBP cholestenol delta-isomerase

CDPX2, OMIM:302960;DNA:point mutation:exon:W29X, R63X
CTD Direct Evidence: marker/mechanism

PMID:10391218 PMID:18176751

NCBI chr X:42,670,592...42,678,571
Ensembl chr X:42,670,633...42,678,570

chondrodysplasia with joint dislocations gPAPP type

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

3'(2'), 5'-bisphosphate nucleotidase 2

ClinVar Annotator: match by term: Chondrodysplasia with joint dislocations, gPAPP type

PMID:21549340 PMID:21834032 PMID:22887726 PMID:25741868 PMID:28492532 More...

NCBI chr 4:75,191,256...75,210,988
Ensembl chr 4:75,191,257...75,215,906

chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

histone deacetylase 6

ClinVar Annotator: match by term: X-linked dominant chondrodysplasia, Chassaing-Lacombe type

PMID:16001442 PMID:20181727 PMID:25741868 PMID:28492532

NCBI chr X:42,917,911...42,941,894
Ensembl chr X:42,917,964...42,941,887

chondrodysplasia-pseudohermaphroditism syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

hedgehog acyltransferase

ClinVar Annotator: match by term: Chondrodysplasia-pseudohermaphroditism syndrome | ClinVar Annotator: match by term: Pseudohermaphrodism and chondrodysplasia

PMID:24784881 PMID:25741868 PMID:28492532 PMID:30912300

NCBI chr 9:132,346,407...132,668,067
Ensembl chr 9:132,347,037...132,666,873

cleidocranial dysplasia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

angiotensinogen

ClinVar Annotator: match by term: Large fontanelles

PMID:25741868 PMID:35005812

NCBI chr14:59,643,030...59,656,835
Ensembl chr14:59,643,292...59,656,833

G

RUNX family transcription factor 2

ClinVar Annotator: match by term: CLEIDOCRANIAL DYSPLASIA 1 | ClinVar Annotator: match by term: Cleidocranial dysostosis | ClinVar Annotator: match by term: Cleidocranial dysplasia 1, forme fruste, dental anomalies only | ClinVar Annotator: match by term: Cleidocranial dysplasia 1, forme fruste, with brachydactyly

PMID:9182765 PMID:9207800 PMID:10521292 PMID:10545612 PMID:10980549 More...

NCBI chr 7:40,106,581...40,353,304
Ensembl chr 7:40,106,532...40,460,687

G

SPT3 homolog, SAGA and STAGA complex component

ClinVar Annotator: match by term: Cleidocranial dysostosis

NCBI chr 7:39,763,303...40,161,123
Ensembl chr 7:39,751,927...40,161,103

G

T-box transcription factor 1

NCBI chr14:51,289,376...51,297,110
Ensembl chr14:51,289,321...51,296,725

Cleidocranial Dysplasia 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

core-binding factor subunit beta

ClinVar Annotator: match by term: Cleidocranial dysplasia 2

PMID:25741868 PMID:36241386

NCBI chr 6:27,684,320...27,750,856
Ensembl chr 6:27,684,030...27,750,852

CODAS syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

lon peptidase 1, mitochondrial

ClinVar Annotator: match by term: CEREBRAL, OCULAR, DENTAL, AURICULAR, AND SKELETAL ANOMALIES SYNDROME | ClinVar Annotator: match by term: CODAS syndrome | ClinVar Annotator: match by term: Cerebral, ocular, dental, auricular, and skeletal syndrome | ClinVar Annotator: match by term: LONP1-related condition

PMID:1887855 PMID:5574826 PMID:9536098 PMID:17576681 PMID:25574826 More...

NCBI chr 2:73,266,310...73,286,774
Ensembl chr 2:73,266,258...73,286,773

Cole-Carpenter syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

prolyl 4-hydroxylase subunit beta

ClinVar Annotator: match by term: Bone fragility with craniosynostosis, ocular proptosis, hydrocephalus, and distinctive facial features | ClinVar Annotator: match by term: Cole-Carpenter syndrome

PMID:25741868 PMID:28492532

NCBI chr12:1,121,816...1,131,291
Ensembl chr12:1,121,824...1,131,289

G

SEC24 homolog D, COPII coat complex component

CTD Direct Evidence: marker/mechanism

NCBI chr 8:104,560,723...105,005,400
Ensembl chr 8:104,882,035...105,005,398

Cole-Carpenter Syndrome 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

prolyl 4-hydroxylase subunit beta

ClinVar Annotator: match by term: Cole-Carpenter syndrome 1

PMID:25683117 PMID:25741868 PMID:28492532 PMID:29263160 PMID:30063094

NCBI chr12:1,121,816...1,131,291
Ensembl chr12:1,121,824...1,131,289

Cole-Carpenter Syndrome 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

SEC24 homolog D, COPII coat complex component

ClinVar Annotator: match by term: Cole-Carpenter syndrome 2 | ClinVar Annotator: match by term: SEC24D-related condition

PMID:25683121 PMID:25741868 PMID:26467156 PMID:27942778 PMID:28492532 More...

NCBI chr 8:104,560,723...105,005,400
Ensembl chr 8:104,882,035...105,005,398