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.

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Genes (875)

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 chr24:31,097,673...31,104,774
Ensembl chr24:31,097,538...31,101,225

G

collagen type XI alpha 2 chain

CTD Direct Evidence: marker/mechanism

NCBI chr17:38,882,591...38,912,602
Ensembl chr17:38,882,745...38,911,625

G

collagen type II alpha 1 chain

CTD Direct Evidence: marker/mechanism

NCBI chr11:44,196,213...44,227,718
Ensembl chr11:44,196,094...44,227,468

G

endothelin 1

CTD Direct Evidence: marker/mechanism

NCBI chr17:59,854,186...59,861,319
Ensembl chr17:59,853,699...59,861,198

G

fibroblast growth factor 14

CTD Direct Evidence: marker/mechanism

NCBI chr 3:80,304,996...80,978,292
Ensembl chr 3:80,309,110...80,500,510

G

GATA binding protein 2

CTD Direct Evidence: marker/mechanism

NCBI chr22:52,549,112...52,562,911
Ensembl chr22:52,555,738...52,562,909

G

matrix metallopeptidase 3

mRNA:increased expression:articular cartilage

NCBI chr 1:94,216,156...94,224,437
Ensembl chr 1:94,216,173...94,224,264

G

natriuretic peptide C

CTD Direct Evidence: marker/mechanism

NCBI chr10:117,919,889...117,924,306
Ensembl chr10:117,919,760...117,924,273

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 chr21:124,819,580...125,032,058
Ensembl chr21:124,819,887...124,981,008

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 chr23:52,565,322...52,598,237
Ensembl chr23:52,565,409...52,592,657

G

thyroid hormone receptor interactor 11

ClinVar Annotator: match by term: Achondrogenesis

NCBI chr24:69,724,614...69,793,413
Ensembl chr24:69,751,193...69,793,039

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 chr24:71,687,282...71,730,684
Ensembl chr24:71,687,238...71,730,696

G

ataxin 3

ClinVar Annotator: match by term: Achondrogenesis, type IA

NCBI chr24:69,810,433...69,855,308

G

BTB domain containing 7

ClinVar Annotator: match by term: Achondrogenesis, type IA

NCBI chr24:70,979,273...71,084,485
Ensembl chr24:70,979,232...71,041,628

G

calmodulin 1

ClinVar Annotator: match by term: Achondrogenesis, type IA

NCBI chr24:68,133,446...68,145,117
Ensembl chr24:68,133,428...68,145,180

G

cation channel sperm associated auxiliary subunit beta

ClinVar Annotator: match by term: Achondrogenesis, type IA

NCBI chr24:69,339,174...69,499,283

G

coiled-coil domain containing 88C

ClinVar Annotator: match by term: Achondrogenesis, type IA

NCBI chr24:69,035,317...69,185,353
Ensembl chr24:69,034,992...69,184,800

G

chromogranin A

ClinVar Annotator: match by term: Achondrogenesis, type IA

NCBI chr24:70,663,040...70,675,827
Ensembl chr24:70,663,298...70,677,116

G

cytochrome c oxidase subunit 8C

ClinVar Annotator: match by term: Achondrogenesis, type IA

NCBI chr24:71,098,014...71,099,417
Ensembl chr24:71,098,346...71,099,180

G

cleavage and polyadenylation specific factor 2

ClinVar Annotator: match by term: Achondrogenesis, type IA

NCBI chr24:69,873,056...69,914,129
Ensembl chr24:69,877,446...69,917,541

G

DEAD-box helicase 24

ClinVar Annotator: match by term: Achondrogenesis, type IA

NCBI chr24:71,808,721...71,838,268
Ensembl chr24:71,808,995...71,838,262

G

D-glutamate cyclase

ClinVar Annotator: match by term: Achondrogenesis, type IA

NCBI chr24:68,822,051...68,990,267

G

family with sequence similarity 181 member A

ClinVar Annotator: match by term: Achondrogenesis, type IA

NCBI chr24:71,678,583...71,682,815

G

fibulin 5

ClinVar Annotator: match by term: Achondrogenesis, type IA

NCBI chr24:69,626,498...69,703,146
Ensembl chr24:69,626,339...69,703,108

G

golgin A5

ClinVar Annotator: match by term: Achondrogenesis, type IA

NCBI chr24:70,544,246...70,590,195
Ensembl chr24:70,544,237...70,590,312

G

GON7 subunit of KEOPS complex

ClinVar Annotator: match by term: Achondrogenesis, type IA

NCBI chr24:70,941,245...70,945,561
Ensembl chr24:70,940,910...70,945,485

G

G protein-coupled receptor 68

ClinVar Annotator: match by term: Achondrogenesis, type IA

NCBI chr24:68,998,721...69,027,237
Ensembl chr24:68,998,805...68,999,902

G

interferon alpha inducible protein 27

ClinVar Annotator: match by term: Achondrogenesis, type IA

NCBI chr24:71,884,130...71,890,813

G

interferon alpha inducible protein 27 like 2

ClinVar Annotator: match by term: Achondrogenesis, type IA

NCBI chr24:71,901,911...71,903,794
Ensembl chr24:71,901,852...71,903,831

G

inositol-tetrakisphosphate 1-kinase

ClinVar Annotator: match by term: Achondrogenesis, type IA

NCBI chr24:70,680,791...70,860,132
Ensembl chr24:70,679,303...70,859,587

G

potassium two pore domain channel subfamily K member 13

ClinVar Annotator: match by term: Achondrogenesis, type IA

NCBI chr24:67,782,523...67,912,950
Ensembl chr24:67,781,977...67,913,195

G

legumain

ClinVar Annotator: match by term: Achondrogenesis, type IA

NCBI chr24:70,456,463...70,500,345
Ensembl chr24:70,456,095...70,486,087

G

lysosomal enzyme trafficking factor

ClinVar Annotator: match by term: Achondrogenesis, type IA

NCBI chr24:70,921,807...70,923,947
Ensembl chr24:70,922,060...70,924,183

G

modulator of apoptosis 1

ClinVar Annotator: match by term: Achondrogenesis, type IA

Ensembl chr24:70,920,083...70,921,138

G

NADH:ubiquinone oxidoreductase subunit B1

ClinVar Annotator: match by term: Achondrogenesis, type IA

NCBI chr24:69,867,172...69,872,978
Ensembl chr24:69,867,175...69,872,881

G

NRDE-2, necessary for RNA interference, domain containing

ClinVar Annotator: match by term: Achondrogenesis, type IA

NCBI chr24:67,999,010...68,055,164
Ensembl chr24:67,999,268...68,055,093

G

OTU deubiquitinase, ubiquitin aldehyde binding 2

ClinVar Annotator: match by term: Achondrogenesis, type IA

NCBI chr24:71,783,388...71,806,721
Ensembl chr24:71,795,047...71,803,732

G

protein phosphatase 4 regulatory subunit 3A

ClinVar Annotator: match by term: Achondrogenesis, type IA

NCBI chr24:69,219,313...69,270,938
Ensembl chr24:69,218,583...69,270,929

G

protein phosphatase 4 regulatory subunit 4

ClinVar Annotator: match by term: Achondrogenesis, type IA

NCBI chr24:71,945,572...72,054,841
Ensembl chr24:71,945,868...72,055,279

G

proline rich membrane anchor 1

ClinVar Annotator: match by term: Achondrogenesis, type IA

NCBI chr24:71,466,023...71,540,482

G

proteasome 26S subunit, ATPase 1

ClinVar Annotator: match by term: Achondrogenesis, type IA

NCBI chr24:67,979,449...67,995,103

G

Ras and Rab interactor 3

ClinVar Annotator: match by term: Achondrogenesis, type IA

NCBI chr24:70,261,693...70,447,126
Ensembl chr24:70,303,459...70,450,059

G

ribosomal protein S6 kinase A5

ClinVar Annotator: match by term: Achondrogenesis, type IA

NCBI chr24:68,620,637...68,821,996
Ensembl chr24:68,619,349...68,763,376

G

serpin family A member 1

ClinVar Annotator: match by term: Achondrogenesis, type IA

NCBI chr24:72,158,521...72,171,139
Ensembl chr24:72,156,784...72,163,500

G

serpin family A member 10

ClinVar Annotator: match by term: Achondrogenesis, type IA

NCBI chr24:72,059,523...72,069,989
Ensembl chr24:72,058,780...72,069,085

G

serpin family A member 6

ClinVar Annotator: match by term: Achondrogenesis, type IA

NCBI chr24:72,079,084...72,098,549
Ensembl chr24:72,077,274...72,098,154

G

solute carrier family 24 member 4

ClinVar Annotator: match by term: Achondrogenesis, type IA

NCBI chr24:70,068,924...70,242,148
Ensembl chr24:70,179,850...70,239,517

G

tandem C2 domains, nuclear

ClinVar Annotator: match by term: Achondrogenesis, type IA

NCBI chr24:69,538,975...69,624,868
Ensembl chr24:69,537,693...69,593,341

G

tyrosyl-DNA phosphodiesterase 1

ClinVar Annotator: match by term: Achondrogenesis, type IA

NCBI chr24:67,672,178...67,762,340

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 chr24:69,724,614...69,793,413
Ensembl chr24:69,751,193...69,793,039

G

tetratricopeptide repeat domain 7B

ClinVar Annotator: match by term: Achondrogenesis, type IA

NCBI chr24:68,285,785...68,565,119
Ensembl chr24:68,285,761...68,565,066

G

ubiquitin protein ligase E3 component n-recognin 7

ClinVar Annotator: match by term: Achondrogenesis, type IA

NCBI chr24:70,945,412...70,969,489
Ensembl chr24:70,945,629...70,969,594

G

unc-79 homolog, NALCN channel complex subunit

ClinVar Annotator: match by term: Achondrogenesis, type IA

NCBI chr24:71,172,214...71,455,415
Ensembl chr24:71,209,614...71,456,568

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 chr23:52,565,322...52,598,237
Ensembl chr23:52,565,409...52,592,657

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 chr11:44,196,213...44,227,718
Ensembl chr11:44,196,094...44,227,468

achondroplasia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

aggrecan

OMIM:100800

NCBI chr29:7,345,350...7,416,951

G

fibrillin 1

ClinVar Annotator: match by term: Achondroplasia

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

NCBI chr26:34,637,916...34,877,499
Ensembl chr26:34,638,838...34,879,217

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 chr27:46,958,444...46,974,032
Ensembl chr27:46,957,254...46,973,392

G

natriuretic peptide C

OMIM:100800

NCBI chr10:117,919,889...117,924,306
Ensembl chr10:117,919,760...117,924,273

G

natriuretic peptide receptor 2

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

NCBI chr12:44,795,822...44,844,464
Ensembl chr12:44,793,253...44,813,671

G

parathyroid hormone like hormone

OMIM:100800

NCBI chr11:27,682,300...27,694,808
Ensembl chr11:27,682,338...27,694,898

G

sprouty related EVH1 domain containing 2

OMIM:100800

NCBI chr14:41,574,244...41,699,897
Ensembl chr14:41,640,758...41,700,009

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 chr27:46,958,444...46,974,032
Ensembl chr27:46,957,254...46,973,392

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 chr10:104,960,296...104,966,596
Ensembl chr10:104,960,120...104,966,585

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 chr16:52,955,411...53,017,263
Ensembl chr16:52,955,714...53,016,909

G

uncharacterized LOC103221883

ClinVar Annotator: match by term: Acrodysostosis

PMID:25741868 PMID:28492532

NCBI chr 4:55,148,012...56,665,684
Ensembl chr 4:55,153,563...55,390,027

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 chr16:53,021,666...53,042,594
Ensembl chr16:53,023,963...53,042,493

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 chr16:53,021,666...53,042,594
Ensembl chr16:53,023,963...53,042,493

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 chr 4:56,770,728...56,882,062
Ensembl chr 4:56,770,727...56,863,006

G

uncharacterized LOC103221883

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 chr 4:55,148,012...56,665,684
Ensembl chr 4:55,153,563...55,390,027

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 chr 2:56,340,371...56,346,378
Ensembl chr 2:56,340,933...56,345,053

G

natriuretic peptide receptor 2

ClinVar Annotator: match by term: Acromesomelic dysplasia

NCBI chr12:44,795,822...44,844,464
Ensembl chr12:44,793,253...44,813,671

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 chr 2:56,340,371...56,346,378
Ensembl chr 2:56,340,933...56,345,053

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

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 chr 2:56,340,371...56,346,378
Ensembl chr 2:56,340,933...56,345,053

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 chr12:47,239,094...47,346,528
Ensembl chr12:47,258,798...47,287,102

G

aquaporin 3 (Gill blood group)

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

NCBI chr12:46,817,790...46,825,154

G

aquaporin 7

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

NCBI chr12:46,866,519...46,886,525

G

Rho guanine nucleotide exchange factor 39

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

NCBI chr12:44,937,488...44,941,708
Ensembl chr12:44,937,923...44,944,842

G

atos homolog B

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

NCBI chr12:45,500,473...45,512,647
Ensembl chr12:45,505,278...45,512,759

G

beta-1,4-galactosyltransferase 1

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

G

BAG cochaperone 1

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

NCBI chr12:47,006,177...47,016,177

G

carbonic anhydrase 9

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

NCBI chr12:44,921,530...44,929,504
Ensembl chr12:44,921,665...44,928,831

G

coiled-coil domain containing 107

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

NCBI chr12:44,941,951...44,944,935
Ensembl chr12:44,939,377...44,944,842

G

calicin

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

NCBI chr12:44,387,239...44,390,726
Ensembl chr12:44,387,995...44,389,761

G

C-C motif chemokine ligand 19

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

NCBI chr12:45,928,212...45,930,897
Ensembl chr12:45,929,071...45,930,904

G

C-C motif chemokine ligand 21

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

NCBI chr12:45,787,118...45,788,506
Ensembl chr12:45,787,356...45,908,711

G

C-C motif chemokine ligand 27

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

NCBI chr12:45,956,596...45,959,354
Ensembl chr12:45,958,642...45,959,313

G

CD72 molecule

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

NCBI chr12:44,979,721...44,985,821

G

charged multivesicular body protein 5

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

NCBI chr12:46,989,349...47,006,035
Ensembl chr12:46,988,340...47,006,742

G

ciliary microtubule inner protein 2B

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

NCBI chr12:44,991,633...45,041,573
Ensembl chr12:45,039,593...45,041,415

G

clathrin light chain A

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

NCBI chr12:44,346,169...44,367,626
Ensembl chr12:44,344,395...44,367,619

G

ciliary neurotrophic factor receptor

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

NCBI chr12:46,017,992...46,068,187
Ensembl chr12:46,030,203...46,069,944

G

cAMP responsive element binding protein 3

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

NCBI chr12:44,865,409...44,870,074
Ensembl chr12:44,865,682...44,869,621

G

DDB1 and CUL4 associated factor 12

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

NCBI chr12:46,468,750...46,504,544
Ensembl chr12:46,468,714...46,504,557

G

dynactin subunit 3

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

NCBI chr12:45,999,302...46,006,303
Ensembl chr12:45,999,166...46,006,883

G

dynein axonemal intermediate chain 1

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

NCBI chr12:46,058,280...46,155,989
Ensembl chr12:46,090,829...46,128,839

G

DnaJ heat shock protein family (Hsp40) member A1

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

NCBI chr12:47,220,976...47,235,684

G

DnaJ heat shock protein family (Hsp40) member B5

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

NCBI chr12:45,620,081...45,628,916
Ensembl chr12:45,619,281...45,628,304

G

energy homeostasis associated

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

NCBI chr12:46,088,566...46,090,542
Ensembl chr12:46,089,890...46,090,117

G

exosome component 3

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

NCBI chr12:42,798,609...42,819,431
Ensembl chr12:42,799,067...42,803,471

G

family with sequence similarity 219 member A

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

NCBI chr12:46,156,121...46,215,070
Ensembl chr12:46,156,131...46,217,015

G

family with sequence similarity 221 member B

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

NCBI chr12:44,775,909...44,787,061
Ensembl chr12:44,779,001...44,787,022

G

FA complementation group G

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

NCBI chr12:45,537,817...45,544,038
Ensembl chr12:45,538,303...45,543,766

G

F-box protein 10

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

NCBI chr12:43,010,040...43,075,920
Ensembl chr12:42,992,013...43,074,290

G

FERM and PDZ domain containing 1

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

NCBI chr12:42,835,352...42,981,017
Ensembl chr12:42,835,350...42,980,486

G

galactose-1-phosphate uridylyltransferase

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

NCBI chr12:45,970,655...45,974,669
Ensembl chr12:45,970,794...45,974,581

G

glucosylceramidase beta 2

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

NCBI chr12:44,852,048...44,865,542
Ensembl chr12:44,852,203...44,868,652

G

GLI pathogenesis related 2

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

NCBI chr12:44,395,343...44,422,118
Ensembl chr12:44,395,321...44,422,092

G

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

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

NCBI chr12:44,300,321...44,340,917
Ensembl chr12:44,282,809...44,344,311

G

glyoxylate and hydroxypyruvate reductase

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

NCBI chr12:43,157,323...43,171,546
Ensembl chr12:43,156,840...43,171,532

G

histidine triad nucleotide binding protein 2

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

NCBI chr12:44,790,455...44,792,571
Ensembl chr12:44,790,416...44,792,625

G

histidine rich carboxyl terminus 1

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

NCBI chr12:44,693,433...44,694,718
Ensembl chr12:44,693,998...44,694,303

G

interleukin 11 receptor subunit alpha

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

NCBI chr12:45,959,370...45,970,563
Ensembl chr12:45,955,863...45,969,310

G

olfactory receptor 13J1

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

NCBI chr12:44,734,172...44,735,627
Ensembl chr12:44,734,504...44,735,442

G

protein unc-13 homolog B

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

NCBI chr12:45,230,661...45,461,934
Ensembl chr12:45,230,659...45,461,339

G

kinesin-like protein KIF24

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

NCBI chr12:46,236,329...46,349,935
Ensembl chr12:46,291,758...46,348,098

G

bis(5'-nucleosyl)-tetraphosphatase [asymmetrical]

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

NCBI chr12:46,260,652...46,274,678

G

maternal embryonic leucine zipper kinase

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

NCBI chr12:43,901,840...44,007,855
Ensembl chr12:43,901,551...44,007,266

G

microseminoprotein, prostate associated

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

NCBI chr12:44,847,109...44,848,263
Ensembl chr12:44,847,129...44,848,150

G

myogenesis regulating glycosidase (putative)

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

NCBI chr12:46,235,327...46,243,153
Ensembl chr12:46,240,208...46,242,352

G

NADH:ubiquinone oxidoreductase subunit B6

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

NCBI chr12:47,682,066...47,701,467
Ensembl chr12:47,682,192...47,701,273

G

nuclear transcription factor, X-box binding 1

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

NCBI chr12:46,899,208...46,982,237
Ensembl chr12:46,900,920...46,982,518

G

nucleolar protein 6

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

NCBI chr12:46,791,704...46,804,091
Ensembl chr12:46,791,725...46,805,338

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 chr12:44,795,822...44,844,464
Ensembl chr12:44,793,253...44,813,671

G

paired box 5

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

NCBI chr12:43,547,399...43,748,202
Ensembl chr12:43,548,914...43,740,962

G

PHD finger protein 24

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

NCBI chr12:45,635,910...45,661,692
Ensembl chr12:45,635,885...45,661,446

G

phosphatidylinositol glycan anchor biosynthesis class O

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

NCBI chr12:45,521,468...45,529,936
Ensembl chr12:45,521,976...45,533,729

G

RNA polymerase I subunit E

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

NCBI chr12:43,082,707...43,101,416
Ensembl chr12:43,083,197...43,108,367

G

reversion inducing cysteine rich protein with kazal motifs

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

NCBI chr12:44,431,807...44,517,893
Ensembl chr12:44,431,615...44,517,810

G

RGP1 homolog, RAB6A GEF complex partner 1

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

NCBI chr12:44,843,368...44,851,896
Ensembl chr12:44,848,379...44,851,942

G

RNA sensor RIG-I

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

NCBI chr12:47,729,040...47,800,995
Ensembl chr12:47,729,076...47,799,570

G

ring finger protein 38

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

NCBI chr12:44,083,814...44,224,206
Ensembl chr12:44,185,500...44,225,491

G

ribonuclease P/MRP subunit p25 like

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

NCBI chr12:46,007,629...46,009,320
Ensembl chr12:46,008,520...46,009,011

G

RUN and SH3 domain containing 2

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

NCBI chr12:45,041,514...45,110,793
Ensembl chr12:45,038,683...45,056,872

G

signaling threshold regulating transmembrane adaptor 1

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

NCBI chr12:44,952,341...44,954,118
Ensembl chr12:44,952,431...44,955,326

G

SMU1 DNA replication regulator and spliceosomal factor

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

NCBI chr12:47,188,919...47,214,320

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 chr12:44,792,661...44,795,736
Ensembl chr12:44,793,253...44,800,474

G

SPATA31 subfamily G member 1

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

NCBI chr12:45,571,060...45,575,282
Ensembl chr12:45,571,177...45,574,796

G

sperm microtubule inner protein 6

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

NCBI chr12:46,215,162...46,234,101
Ensembl chr12:46,215,619...46,234,044

G

stomatin like 2

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

NCBI chr12:45,513,578...45,516,876
Ensembl chr12:45,513,307...45,517,110

G

TATA-box binding protein associated factor 1 like

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

NCBI chr12:47,620,400...47,626,369

G

testis associated actin remodelling kinase 1

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

NCBI chr12:44,985,770...44,990,520
Ensembl chr12:44,984,687...44,990,183

G

talin 1

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

NCBI chr12:44,870,004...44,906,686
Ensembl chr12:44,876,643...44,907,072

G

transmembrane protein 215

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

NCBI chr12:47,487,134...47,491,507
Ensembl chr12:47,489,038...47,489,745

G

transmembrane protein 8B

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

G

translocase of outer mitochondrial membrane 5

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

NCBI chr12:42,992,137...42,992,670

G

TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase

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

NCBI chr12:47,702,638...47,714,309
Ensembl chr12:47,702,995...47,714,338

G

tropomyosin 2

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

NCBI chr12:44,912,250...44,920,615
Ensembl chr12:44,912,223...44,919,456

G

tRNA methyltransferase 10B

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

NCBI chr12:42,794,648...42,829,913
Ensembl chr12:42,797,739...42,821,327

G

ubiquitin associated protein 1

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

NCBI chr12:46,349,938...46,419,480
Ensembl chr12:46,346,971...46,419,455

G

ubiquitin associated protein 2

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

NCBI chr12:46,536,570...46,665,694
Ensembl chr12:46,536,560...46,665,902

G

ubiquitin conjugating enzyme E2 R2

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

NCBI chr12:46,668,502...46,781,144
Ensembl chr12:46,666,001...46,781,572

G

valosin containing protein

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

NCBI chr12:45,545,139...45,560,702
Ensembl chr12:45,545,507...45,563,380

G

zinc finger and BTB domain containing 5

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

NCBI chr12:43,110,046...43,156,311
Ensembl chr12:43,151,876...43,153,909

G

zinc finger CCHC-type containing 7

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

NCBI chr12:43,234,800...43,484,893
Ensembl chr12:43,234,590...43,463,364

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...

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 7:29,511,796...29,629,943
Ensembl chr 7:29,511,380...29,618,330

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 chr12:4,562,213...4,602,494
Ensembl chr12:4,562,864...4,602,282

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 chr26:34,637,916...34,877,499
Ensembl chr26:34,638,838...34,879,217

G

SMAD family member 2

CTD Direct Evidence: marker/mechanism

NCBI chr18:33,017,138...33,105,320
Ensembl chr18:33,017,492...33,104,606

G

transforming growth factor beta 1

CTD Direct Evidence: marker/mechanism

NCBI chr 6:35,651,583...35,674,387
Ensembl chr 6:35,648,677...35,674,365

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 chr25:4,326,872...4,353,208
Ensembl chr25:4,330,849...4,351,401

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 chr12:44,937,488...44,941,708
Ensembl chr12:44,937,923...44,944,842

G

atos homolog B

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr12:45,500,473...45,512,647
Ensembl chr12:45,505,278...45,512,759

G

carbonic anhydrase 9

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr12:44,921,530...44,929,504
Ensembl chr12:44,921,665...44,928,831

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 chr12:44,941,951...44,944,935
Ensembl chr12:44,939,377...44,944,842

G

calicin

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr12:44,387,239...44,390,726
Ensembl chr12:44,387,995...44,389,761

G

C-C motif chemokine ligand 19

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr12:45,928,212...45,930,897
Ensembl chr12:45,929,071...45,930,904

G

C-C motif chemokine ligand 21

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr12:45,787,118...45,788,506
Ensembl chr12:45,787,356...45,908,711

G

C-C motif chemokine ligand 27

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr12:45,956,596...45,959,354
Ensembl chr12:45,958,642...45,959,313

G

CD72 molecule

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr12:44,979,721...44,985,821

G

ciliary microtubule inner protein 2B

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr12:44,991,633...45,041,573
Ensembl chr12:45,039,593...45,041,415

G

clathrin light chain A

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr12:44,346,169...44,367,626
Ensembl chr12:44,344,395...44,367,619

G

ciliary neurotrophic factor receptor

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr12:46,017,992...46,068,187
Ensembl chr12:46,030,203...46,069,944

G

cAMP responsive element binding protein 3

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr12:44,865,409...44,870,074
Ensembl chr12:44,865,682...44,869,621

G

dynactin subunit 3

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr12:45,999,302...46,006,303
Ensembl chr12:45,999,166...46,006,883

G

dynein axonemal intermediate chain 1

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr12:46,058,280...46,155,989
Ensembl chr12:46,090,829...46,128,839

G

DnaJ heat shock protein family (Hsp40) member B5

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr12:45,620,081...45,628,916
Ensembl chr12:45,619,281...45,628,304

G

energy homeostasis associated

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr12:46,088,566...46,090,542
Ensembl chr12:46,089,890...46,090,117

G

family with sequence similarity 219 member A

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr12:46,156,121...46,215,070
Ensembl chr12:46,156,131...46,217,015

G

family with sequence similarity 221 member B

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr12:44,775,909...44,787,061
Ensembl chr12:44,779,001...44,787,022

G

FA complementation group G

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr12:45,537,817...45,544,038
Ensembl chr12:45,538,303...45,543,766

G

galactose-1-phosphate uridylyltransferase

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr12:45,970,655...45,974,669
Ensembl chr12:45,970,794...45,974,581

G

glucosylceramidase beta 2

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr12:44,852,048...44,865,542
Ensembl chr12:44,852,203...44,868,652

G

GLI pathogenesis related 2

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr12:44,395,343...44,422,118
Ensembl chr12:44,395,321...44,422,092

G

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

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr12:44,300,321...44,340,917
Ensembl chr12:44,282,809...44,344,311

G

histidine triad nucleotide binding protein 2

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr12:44,790,455...44,792,571
Ensembl chr12:44,790,416...44,792,625

G

histidine rich carboxyl terminus 1

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr12:44,693,433...44,694,718
Ensembl chr12:44,693,998...44,694,303

G

interleukin 11 receptor subunit alpha

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr12:45,959,370...45,970,563
Ensembl chr12:45,955,863...45,969,310

G

olfactory receptor 13J1

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr12:44,734,172...44,735,627
Ensembl chr12:44,734,504...44,735,442

G

protein unc-13 homolog B

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr12:45,230,661...45,461,934
Ensembl chr12:45,230,659...45,461,339

G

uncharacterized LOC119624339

ClinVar Annotator: match by term: Anauxetic dysplasia

G

microseminoprotein, prostate associated

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr12:44,847,109...44,848,263
Ensembl chr12:44,847,129...44,848,150

G

myogenesis regulating glycosidase (putative)

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr12:46,235,327...46,243,153
Ensembl chr12:46,240,208...46,242,352

G

natriuretic peptide receptor 2

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr12:44,795,822...44,844,464
Ensembl chr12:44,793,253...44,813,671

G

PHD finger protein 24

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr12:45,635,910...45,661,692
Ensembl chr12:45,635,885...45,661,446

G

phosphatidylinositol glycan anchor biosynthesis class O

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr12:45,521,468...45,529,936
Ensembl chr12:45,521,976...45,533,729

G

reversion inducing cysteine rich protein with kazal motifs

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr12:44,431,807...44,517,893
Ensembl chr12:44,431,615...44,517,810

G

RGP1 homolog, RAB6A GEF complex partner 1

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr12:44,843,368...44,851,896
Ensembl chr12:44,848,379...44,851,942

G

ribonuclease P/MRP subunit p25 like

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr12:46,007,629...46,009,320
Ensembl chr12:46,008,520...46,009,011

G

RUN and SH3 domain containing 2

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr12:45,041,514...45,110,793
Ensembl chr12:45,038,683...45,056,872

G

signaling threshold regulating transmembrane adaptor 1

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr12:44,952,341...44,954,118
Ensembl chr12:44,952,431...44,955,326

G

small regulatory polypeptide of amino acid response

ClinVar Annotator: match by term: Anauxetic dysplasia

G

sperm associated antigen 8

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr12:44,792,661...44,795,736
Ensembl chr12:44,793,253...44,800,474

G

SPATA31 subfamily F member 3

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr12:45,724,346...45,733,209

G

SPATA31 subfamily G member 1

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr12:45,571,060...45,575,282
Ensembl chr12:45,571,177...45,574,796

G

sperm microtubule inner protein 6

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr12:46,215,162...46,234,101
Ensembl chr12:46,215,619...46,234,044

G

stomatin like 2

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr12:45,513,578...45,516,876
Ensembl chr12:45,513,307...45,517,110

G

testis associated actin remodelling kinase 1

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr12:44,985,770...44,990,520
Ensembl chr12:44,984,687...44,990,183

G

talin 1

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr12:44,870,004...44,906,686
Ensembl chr12:44,876,643...44,907,072

G

transmembrane protein 8B

ClinVar Annotator: match by term: Anauxetic dysplasia

G

tropomyosin 2

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr12:44,912,250...44,920,615
Ensembl chr12:44,912,223...44,919,456

G

valosin containing protein

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr12:45,545,139...45,560,702
Ensembl chr12:45,545,507...45,563,380

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 chr12:44,941,951...44,944,935
Ensembl chr12:44,939,377...44,944,842

G

POP1 homolog, ribonuclease P/MRP subunit

CTD Direct Evidence: marker/mechanism

NCBI chr 8:93,031,600...93,074,700
Ensembl chr 8:93,043,277...93,074,818

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 8:93,031,600...93,074,700
Ensembl chr 8:93,043,277...93,074,818

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 chr22:67,817,433...67,833,609
Ensembl chr22:67,817,386...67,832,257

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 1:93,266,994...93,295,200
Ensembl chr 1:93,267,612...93,284,169

G

B9 domain containing 1

ClinVar Annotator: match by term: Jeune thoracic dystrophy

NCBI chr16:17,925,741...17,945,879
Ensembl chr16:17,925,134...17,945,878

G

baculoviral IAP repeat containing 2

ClinVar Annotator: match by term: Jeune thoracic dystrophy

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

NCBI chr 1:93,721,449...93,746,638

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 1:93,692,239...93,711,905

G

C2 domain containing 3 centriole elongation regulator

ClinVar Annotator: match by term: Jeune thoracic dystrophy

PMID:25741868 PMID:26092869

NCBI chr 1:65,282,311...65,436,007
Ensembl chr 1:65,282,318...65,435,834

G

centrosomal protein 120

CTD Direct Evidence: marker/mechanism

NCBI chr23:26,392,940...26,469,818
Ensembl chr23:26,392,941...26,469,717

G

centrosomal protein 126

ClinVar Annotator: match by term: Jeune thoracic dystrophy

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

NCBI chr 1:93,290,889...93,374,714
Ensembl chr 1:93,291,295...93,374,696

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 1:93,414,720...93,453,964
Ensembl chr 1:93,414,766...93,454,729

G

ciliogenesis associated kinase 1

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

NCBI chr17:19,509,955...19,572,011
Ensembl chr17:19,510,106...19,572,002

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 chr11:44,196,213...44,227,718
Ensembl chr11:44,196,094...44,227,468

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 chr10:50,967,138...51,184,378
Ensembl chr10:51,073,480...51,182,389

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 1:94,436,498...94,467,003
Ensembl chr 1:94,436,784...94,466,989

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 1:94,484,090...94,849,960
Ensembl chr 1:94,484,512...94,849,581

G

dynein 2 intermediate chain 1

ClinVar Annotator: match by term: Jeune thoracic dystrophy

PMID:25741868 PMID:28492532 PMID:29068549

NCBI chr21:126,798,952...126,828,361

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 chr12:9,470,588...9,503,754
Ensembl chr12:9,479,403...9,503,671

G

dynein cytoplasmic 2 light intermediate chain 1

CTD Direct Evidence: marker/mechanism

NCBI chr14:63,441,948...63,481,460
Ensembl chr14:63,440,155...63,481,479

G

dynein light chain Tctex-type 2B

CTD Direct Evidence: marker/mechanism

NCBI chr15:90,867,250...90,902,064
Ensembl chr15:90,867,322...90,902,667

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 chr27:41,703,062...41,851,231
Ensembl chr27:41,703,491...41,850,904

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 chr27:46,958,444...46,974,032
Ensembl chr27:46,957,254...46,973,392

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 chr25:16,656,219...16,688,397
Ensembl chr25:16,652,246...16,688,376

G

fuzzy planar cell polarity protein

ClinVar Annotator: match by term: Jeune thoracic dystrophy

NCBI chr 6:42,968,715...42,975,374
Ensembl chr 6:42,969,000...42,975,368

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 chr10:51,237,150...51,284,301
Ensembl chr10:51,236,756...51,259,062

G

G protein-coupled receptor kinase 2

ClinVar Annotator: match by term: Jeune thoracic dystrophy

NCBI chr 1:6,975,202...6,995,369
Ensembl chr 1:6,975,002...6,995,259

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 5:1,419,432...1,523,342
Ensembl chr 5:1,415,664...1,521,843

G

intraflagellar transport 172

CTD Direct Evidence: marker/mechanism

NCBI chr14:80,130,436...80,171,259

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 chr24:53,231,293...53,329,116
Ensembl chr24:53,231,300...53,329,109

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 chr 2:20,154,246...20,211,754
Ensembl chr 2:20,152,036...20,211,682

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 chr15:30,441,724...30,577,437
Ensembl chr15:30,461,526...30,577,484

G

intraflagellar transport 81

ClinVar Annotator: match by term: Jeune thoracic dystrophy

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

NCBI chr11:105,366,304...105,456,522
Ensembl chr11:105,369,079...105,456,490

G

intraflagellar transport 88

ClinVar Annotator: match by term: Jeune thoracic dystrophy

NCBI chr 3:435,649...546,661
Ensembl chr 3:436,207...546,583

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 7:74,749,929...74,844,078
Ensembl chr 7:74,759,929...74,843,989

G

KIAA0586 ortholog

ClinVar Annotator: match by term: Jeune thoracic dystrophy

NCBI chr24:35,606,816...35,733,490
Ensembl chr24:35,606,714...35,734,346

G

KIAA0753 ortholog

ClinVar Annotator: match by term: Jeune thoracic dystrophy

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

NCBI chr16:5,952,531...6,016,399
Ensembl chr16:5,953,965...6,010,611

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 chr25:4,326,872...4,353,208
Ensembl chr25:4,330,849...4,351,401

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 chr14:87,707,293...87,729,793
Ensembl chr14:87,707,380...87,728,800

G

matrix metallopeptidase 1

ClinVar Annotator: match by term: Jeune thoracic dystrophy

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

NCBI chr 1:94,167,507...94,177,357
Ensembl chr 1:94,167,219...94,176,767

G

matrix metallopeptidase 10

ClinVar Annotator: match by term: Jeune thoracic dystrophy

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

NCBI chr 1:94,147,995...94,158,315
Ensembl chr 1:94,148,087...94,158,097

G

matrix metallopeptidase 12

ClinVar Annotator: match by term: Jeune thoracic dystrophy

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

NCBI chr 1:94,243,061...94,261,035
Ensembl chr 1:94,243,875...94,259,591

G

matrix metallopeptidase 13

ClinVar Annotator: match by term: Jeune thoracic dystrophy

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

NCBI chr 1:94,322,473...94,370,665
Ensembl chr 1:94,322,979...94,334,747

G

matrix metallopeptidase 20

ClinVar Annotator: match by term: Jeune thoracic dystrophy

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

NCBI chr 1:93,946,136...93,997,656
Ensembl chr 1:93,947,582...93,996,815

G

matrix metallopeptidase 27

ClinVar Annotator: match by term: Jeune thoracic dystrophy

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

NCBI chr 1:94,075,524...94,091,080
Ensembl chr 1:94,075,605...94,090,215

G

matrix metallopeptidase 3

ClinVar Annotator: match by term: Jeune thoracic dystrophy

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

NCBI chr 1:94,216,156...94,224,437
Ensembl chr 1:94,216,173...94,224,264

G

matrix metallopeptidase 7

ClinVar Annotator: match by term: Jeune thoracic dystrophy

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

NCBI chr 1:93,889,189...93,901,077
Ensembl chr 1:93,889,198...93,899,587

G

matrix metallopeptidase 8

ClinVar Annotator: match by term: Jeune thoracic dystrophy

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

NCBI chr 1:94,097,620...94,110,114
Ensembl chr 1:94,097,896...94,109,432

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 chr 7:115,621,917...115,819,349
Ensembl chr 7:115,621,916...115,819,291

G

RAB34, member RAS oncogene family

ClinVar Annotator: match by term: Jeune's syndrome

PMID:25741868 PMID:37619988

NCBI chr16:22,482,012...22,486,159
Ensembl chr16:22,481,747...22,485,186

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 chr10:51,490,204...51,653,916

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 chr10:50,717,264...50,886,079
Ensembl chr10:50,717,271...50,888,145

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 chr10:50,563,560...50,679,179
Ensembl chr10:50,563,568...50,637,179

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 chr10:51,711,446...51,898,856
Ensembl chr10:51,714,931...51,829,621

G

SAFB like transcription modulator

ClinVar Annotator: match by term: Jeune thoracic dystrophy

NCBI chr26:24,583,671...24,639,455
Ensembl chr26:24,583,699...24,642,460

G

SNF2 related chromatin remodeling ATPase with DExD box 1

NCBI chr 7:42,468,551...42,552,493
Ensembl chr 7:42,498,601...42,553,661

G

spectrin alpha, non-erythrocytic 1

ClinVar Annotator: match by term: Jeune thoracic dystrophy

PMID:24183451 PMID:28492532 PMID:29068549

NCBI chr12:9,503,752...9,585,297
Ensembl chr12:9,503,367...9,585,268

G

transmembrane protein 123

ClinVar Annotator: match by term: Jeune thoracic dystrophy

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

NCBI chr 1:93,767,359...93,822,539
Ensembl chr 1:93,765,365...93,822,806

G

TRAF3 interacting protein 1

ClinVar Annotator: match by term: Jeune thoracic dystrophy

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

NCBI chr10:124,348,763...124,428,522
Ensembl chr10:124,348,916...124,429,716

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 1:92,828,546...92,970,224
Ensembl chr 1:92,829,253...92,885,086

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 chr10:51,365,156...51,449,207
Ensembl chr10:51,364,889...51,449,183

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 chr27:11,019,897...11,113,760
Ensembl chr27:11,018,827...11,113,666

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 chr14:87,732,034...87,801,687
Ensembl chr14:87,732,049...87,801,852

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 1:93,479,478...93,605,340
Ensembl chr 1:93,479,135...93,606,808

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 chr14:63,414,241...63,439,193
Ensembl chr14:63,413,691...63,438,917

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 chr10:50,967,138...51,184,378
Ensembl chr10:51,073,480...51,182,389

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 1:94,484,090...94,849,960
Ensembl chr 1:94,484,512...94,849,581

G

dynein 2 intermediate chain 1

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

PMID:25741868 PMID:28492532 PMID:29068549

NCBI chr21:126,798,952...126,828,361

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 chr14:63,441,948...63,481,460
Ensembl chr14:63,440,155...63,481,479

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 chr27:41,703,062...41,851,231
Ensembl chr27:41,703,491...41,850,904

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 chr10:51,237,150...51,284,301
Ensembl chr10:51,236,756...51,259,062

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 5:1,419,432...1,523,342
Ensembl chr 5:1,415,664...1,521,843

G

intraflagellar transport 172

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

PMID:25741868 PMID:28492532

NCBI chr14:80,130,436...80,171,259

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 chr15:30,441,724...30,577,437
Ensembl chr15:30,461,526...30,577,484

G

lamin B receptor

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

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

NCBI chr25:4,326,872...4,353,208
Ensembl chr25:4,330,849...4,351,401

G

NIMA related kinase 1

ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 1

NCBI chr 7:115,621,917...115,819,349
Ensembl chr 7:115,621,916...115,819,291

G

RAB34, member RAS oncogene family

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

PMID:25741868 PMID:37619988

NCBI chr16:22,482,012...22,486,159
Ensembl chr16:22,481,747...22,485,186

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 chr10:51,490,204...51,653,916

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 chr10:50,717,264...50,886,079
Ensembl chr10:50,717,271...50,888,145

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 chr10:50,563,560...50,679,179
Ensembl chr10:50,563,568...50,637,179

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 chr10:51,711,446...51,898,856
Ensembl chr10:51,714,931...51,829,621

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 chr10:51,365,156...51,449,207
Ensembl chr10:51,364,889...51,449,183

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 chr27:11,019,897...11,113,760
Ensembl chr27:11,018,827...11,113,666

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 chr15:30,441,724...30,577,437
Ensembl chr15:30,461,526...30,577,484

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 chr 9:112,439,954...112,465,875
Ensembl chr 9:112,439,782...112,466,086

G

dynein cytoplasmic 1 heavy chain 1

ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 3

PMID:25741868 PMID:28492532

NCBI chr24:79,915,719...80,008,666
Ensembl chr24:79,915,889...80,000,099

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 1:94,484,090...94,849,960
Ensembl chr 1:94,484,512...94,849,581

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 chr21:126,798,952...126,828,361

G

dynein 2 intermediate chain 2

ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 3

NCBI chr12:9,470,588...9,503,754
Ensembl chr12:9,479,403...9,503,671

G

dynein light chain Tctex-type 2B

ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 3

NCBI chr15:90,867,250...90,902,064
Ensembl chr15:90,867,322...90,902,667

G

family with sequence similarity 98 member C

ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 3

NCBI chr 6:33,045,851...33,054,525

G

intraflagellar transport 80

OMIM:613091

NCBI chr15:30,441,724...30,577,437
Ensembl chr15:30,461,526...30,577,484

G

kinesin-like protein KIF24

ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 3

NCBI chr12:46,236,329...46,349,935
Ensembl chr12:46,291,758...46,348,098

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 chr 7:115,621,917...115,819,349
Ensembl chr 7:115,621,916...115,819,291

G

transmembrane protein 256

ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 3

NCBI chr16:6,779,412...6,780,553
Ensembl chr16:6,779,067...6,780,693

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 chr10:51,365,156...51,449,207
Ensembl chr10:51,364,889...51,449,183

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 chr27:11,019,897...11,113,760
Ensembl chr27:11,018,827...11,113,666

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 chr23:52,565,322...52,598,237
Ensembl chr23:52,565,409...52,592,657

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 chr22:19,304,822...19,468,037
Ensembl chr22:19,304,781...19,468,036

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 chr23:52,565,322...52,598,237
Ensembl chr23:52,565,409...52,592,657

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 chr22:19,304,822...19,468,037
Ensembl chr22:19,304,781...19,468,036

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 chr16:62,649,053...62,656,192
Ensembl chr16:62,651,146...62,654,570

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 chr 4:14,401,681...14,559,342
Ensembl chr 4:14,408,116...14,559,454

G

OTU deubiquitinase with linear linkage specificity

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

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

NCBI chr 4:14,358,556...14,395,539
Ensembl chr 4:14,358,538...14,389,987

autosomal dominant osteopetrosis 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

chloride channel protein ClC-Kb

ClinVar Annotator: match by term: Autosomal dominant osteopetrosis 1

NCBI chr20:116,241,589...116,255,452
Ensembl chr20:116,241,569...116,254,280

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 1:6,090,048...6,224,956
Ensembl chr 1:6,089,930...6,190,383

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 5:1,355,558...1,383,755
Ensembl chr 5:1,355,016...1,383,695

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 chr16:60,926,006...60,980,359
Ensembl chr16:60,926,063...60,980,669

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 chr13:52,397,291...52,410,341
Ensembl chr13:52,396,109...52,410,339

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 6:35,056,287...35,090,544
Ensembl chr 6:35,061,225...35,090,542

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 5:1,323,406...1,333,676
Ensembl chr 5:1,322,933...1,333,122

G

pleckstrin homology and RUN domain containing M1

ClinVar Annotator: match by term: Autosomal recessive osteopetrosis 1

PMID:35342016 PMID:36195244

NCBI chr16:60,926,006...60,980,359
Ensembl chr16:60,926,063...60,980,669

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 1:6,484,469...6,497,008
Ensembl chr 1:6,484,474...6,494,719

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 chr 3:20,717,884...20,761,520
Ensembl chr 3:20,727,592...20,760,408

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 8:80,830,963...80,848,245
Ensembl chr 8:80,830,939...80,848,707

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 5:1,355,558...1,383,755
Ensembl chr 5:1,355,016...1,383,695

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 chr13:65,774,825...65,812,606
Ensembl chr13:65,774,844...65,809,272

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 chr16:60,926,006...60,980,359
Ensembl chr16:60,926,063...60,980,669

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 chr18:17,385,251...17,446,442

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 chr21:31,999,253...32,044,967
Ensembl chr21:31,998,277...32,081,843

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 chr21:119,240,352...119,258,920
Ensembl chr21:119,241,490...119,263,193

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 chr13:61,786,246...61,806,010
Ensembl chr13:61,786,312...61,803,610

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 chr 2:88,065,948...88,074,820
Ensembl chr 2:88,063,604...88,075,289

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 1:94,484,090...94,849,960
Ensembl chr 1:94,484,512...94,849,581

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 chr27:41,703,062...41,851,231
Ensembl chr27:41,703,491...41,850,904

G

intraflagellar transport 80

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

PMID:28492532 PMID:29068549

NCBI chr15:30,441,724...30,577,437
Ensembl chr15:30,461,526...30,577,484

G

NIMA related kinase 1

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

PMID:25741868 PMID:29068549

NCBI chr 7:115,621,917...115,819,349
Ensembl chr 7:115,621,916...115,819,291

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 chr10:51,365,156...51,449,207
Ensembl chr10:51,364,889...51,449,183

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 chr27:11,019,897...11,113,760
Ensembl chr27:11,018,827...11,113,666

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 chr 7:131,348,511...131,352,071
Ensembl chr 7:131,347,975...131,353,985

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 chr 7:131,375,653...131,399,429
Ensembl chr 7:131,375,619...131,399,235

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 chr 7:131,352,140...131,375,558
Ensembl chr 7:131,350,251...131,375,549

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 chr22:19,304,822...19,468,037
Ensembl chr22:19,304,781...19,468,036

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 1:8,681,140...8,700,721
Ensembl chr 1:8,681,156...8,703,740

G

3'-phosphoadenosine 5'-phosphosulfate synthase 2

ClinVar Annotator: match by term: Brachyolmia

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

NCBI chr 9:81,102,477...81,191,951
Ensembl chr 9:81,102,520...81,190,230

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 chr11:105,020,972...105,072,660

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 chr11:105,020,972...105,072,660

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 chr11:105,020,972...105,072,660

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 1:8,681,140...8,700,721
Ensembl chr 1:8,681,156...8,703,740

G

SCY1 like pseudokinase 1

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

PMID:25741868 PMID:28492532

NCBI chr 1:8,700,828...8,714,571
Ensembl chr 1:8,700,973...8,714,763

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 chr22:6,238,804...6,325,804
Ensembl chr22:6,249,567...6,325,510

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 chr23:52,663,290...52,723,652
Ensembl chr23:52,664,076...52,697,304

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 6:33,080,443...33,234,478
Ensembl chr 6:33,080,758...33,213,788

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 chr16:64,438,352...64,448,261
Ensembl chr16:64,438,333...64,448,731

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 chr15:44,489,804...44,590,284
Ensembl chr15:44,490,042...44,591,526

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 chr21:54,602,780...54,639,832
Ensembl chr21:54,602,398...54,632,780

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 chr16:64,438,352...64,448,261
Ensembl chr16:64,438,333...64,448,731

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 chr15:44,489,804...44,590,284
Ensembl chr15:44,490,042...44,591,526

Buschke-Ollendorff syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

elastin

NCBI chr28:8,999,164...9,048,703

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 chr11:60,861,671...60,945,858
Ensembl chr11:60,862,265...60,946,040

Caffey disease

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

alpha 1,4-galactosyltransferase (P1PK blood group)

ClinVar Annotator: match by term: Infantile cortical hyperostosis

PMID:20971946 PMID:28492532

NCBI chr19:25,247,930...25,278,549
Ensembl chr19:25,248,687...25,249,748

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 chr16:43,134,648...43,152,313
Ensembl chr16:43,134,779...43,150,930

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 7:55,752,419...55,843,408
Ensembl chr 7:55,753,270...55,838,914

G

structural maintenance of chromosomes 1A

ClinVar Annotator: match by term: CDL

NCBI chr X:49,514,652...49,558,490
Ensembl chr X:49,515,061...49,558,447

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 chr16:51,448,821...51,461,801
Ensembl chr16:51,452,567...51,453,850

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 chr16:49,519,749...49,523,967
Ensembl chr16:49,518,185...49,523,898

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 chr16:49,519,749...49,523,967
Ensembl chr16:49,518,185...49,523,898

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 1:6,090,048...6,224,956
Ensembl chr 1:6,089,930...6,190,383

G

melanocyte inducing transcription factor

OMIM:131300 | OMIM:606631

NCBI chr22:30,747,747...30,971,951
Ensembl chr22:30,748,440...30,972,168

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 6:35,651,583...35,674,387
Ensembl chr 6:35,648,677...35,674,365

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 chr12:4,611,952...4,623,373
Ensembl chr12:4,612,268...4,622,381

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 chr12:4,611,952...4,623,373
Ensembl chr12:4,612,268...4,622,381

Carey-Fineman-Ziter Syndrome 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

myomixer, myoblast fusion factor

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

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 chr12:44,941,951...44,944,935
Ensembl chr12:44,939,377...44,944,842

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 chr25:9,414,316...9,485,542
Ensembl chr25:9,414,711...9,485,429

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 chr10:28,230,129...28,394,103
Ensembl chr10:28,230,508...28,394,076

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 chr 3:73,403,520...73,424,985
Ensembl chr 3:73,400,485...73,424,892

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 chr27:45,811,611...45,901,277
Ensembl chr27:45,813,496...45,900,778

G

ATP synthase membrane subunit e

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr27:48,114,033...48,115,963
Ensembl chr27:48,113,477...48,115,896

G

complexin 1

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr27:47,959,109...48,002,338
Ensembl chr27:47,959,091...48,002,527

G

C-terminal binding protein 1

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr27:47,533,490...47,570,505
Ensembl chr27:47,544,682...47,570,636

G

diacylglycerol kinase theta

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr27:47,804,904...47,819,291
Ensembl chr27:47,805,017...47,817,583

G

docking protein 7

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr27:45,240,766...45,271,605
Ensembl chr27:45,241,817...45,269,021

G

family with sequence similarity 193 member A

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr27:46,028,534...46,227,991
Ensembl chr27:46,028,533...46,168,051

G

family with sequence similarity 53 member A

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr27:47,105,860...47,131,400
Ensembl chr27:47,089,353...47,131,749

G

fibroblast growth factor receptor 3

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr27:46,958,444...46,974,032
Ensembl chr27:46,957,254...46,973,392

G

fibroblast growth factor receptor like 1

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr27:47,752,316...47,766,771
Ensembl chr27:47,750,626...47,755,929

G

cyclin G associated kinase

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr27:47,852,548...47,935,691
Ensembl chr27:47,852,588...47,935,874

G

G protein-coupled receptor kinase 4

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr27:45,691,936...45,765,334

G

HAUS augmin like complex subunit 3

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr27:46,522,988...46,533,497
Ensembl chr27:46,522,991...46,533,408

G

HGF activator

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr27:45,283,213...45,290,922
Ensembl chr27:45,283,206...45,290,644

G

huntingtin

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr27:45,493,467...45,657,690
Ensembl chr27:45,497,352...45,657,621

G

alpha-L-iduronidase

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr27:47,778,220...47,794,435
Ensembl chr27:47,778,335...47,794,352

G

leucine zipper and EF-hand containing transmembrane protein 1

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr27:46,912,882...46,954,295
Ensembl chr27:46,912,819...46,956,164

G

endosomal/lysosomal potassium channel TMEM175

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr27:47,819,512...47,852,455
Ensembl chr27:47,816,482...47,852,472

G

zinc finger protein 141

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr27:48,312,947...48,350,404

G

macrophage erythroblast attacher, E3 ubiquitin ligase

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr27:47,425,276...47,473,618
Ensembl chr27:47,425,185...47,473,626

G

major facilitator superfamily domain containing 10

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr27:45,806,889...45,811,122
Ensembl chr27:45,807,306...45,810,849

G

Myb/SANT DNA binding domain containing 1

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr27:45,480,897...45,490,192
Ensembl chr27:45,480,545...45,491,188

G

MAX dimerization protein 4

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr27:46,502,767...46,517,500

G

myosin light chain 5

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr27:48,106,168...48,112,434
Ensembl chr27:48,106,205...48,109,642

G

N-acetyltransferase 8 like

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr27:46,697,086...46,703,494
Ensembl chr27:46,698,845...46,703,413

G

negative elongation factor complex member A

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr27:46,759,742...46,786,835
Ensembl chr27:46,760,707...46,787,090

G

NELL2 interacting cell ontogeny regulator 1

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr27:46,719,529...46,721,549

G

NOP14 nucleolar protein

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr27:45,765,452...45,803,010
Ensembl chr27:45,765,603...45,806,730

G

nuclear receptor binding SET domain protein 2

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr27:46,787,325...46,896,898
Ensembl chr27:46,787,154...46,867,792

G

polycomb group ring finger 3

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr27:48,015,976...48,077,688
Ensembl chr27:48,020,010...48,053,520

G

phosphodiesterase 6B

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr27:48,117,495...48,168,727
Ensembl chr27:48,118,190...48,162,368

G

phosphatidylinositol glycan anchor biosynthesis class G (EMM blood group)

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr27:48,243,098...48,286,642
Ensembl chr27:48,241,534...48,286,607

G

DNA polymerase nu

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr27:46,523,052...46,694,474

G

regulator of G protein signaling 12

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr27:45,302,193...45,444,012

G

Ras like without CAAX 1

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr20:7,965,944...7,979,396
Ensembl chr20:7,966,057...7,976,819

G

ring finger protein 212

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr27:47,665,652...47,705,754

G

ring finger protein 4

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr27:46,245,786...46,290,671

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 chr27:45,919,717...45,961,355
Ensembl chr27:45,920,171...45,942,425

G

stem-loop histone mRNA binding protein

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr27:47,054,154...47,075,104
Ensembl chr27:47,054,787...47,074,537

G

solute carrier family 26 member 1

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr27:47,787,201...47,802,834
Ensembl chr27:47,789,705...47,793,743

G

solute carrier family 49 member 3

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr27:48,097,722...48,106,367
Ensembl chr27:48,098,727...48,106,238

G

spondin 2

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr27:47,609,170...47,615,507
Ensembl chr27:47,609,922...47,615,496

G

transforming acidic coiled-coil containing protein 3

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr27:47,021,970...47,045,571
Ensembl chr27:47,021,965...47,045,223

G

transmembrane protein 129, E3 ubiquitin ligase

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr27:47,045,579...47,050,641
Ensembl chr27:47,045,427...47,051,327

G

TNFAIP3 interacting protein 2

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr27:46,001,814...46,017,676
Ensembl chr27:46,001,872...46,018,494

G

UV stimulated scaffold protein A

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr27:47,378,310...47,418,861
Ensembl chr27:47,378,770...47,417,559

G

zinc finger FYVE-type containing 28

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr27:46,340,014...46,495,299
Ensembl chr27:46,340,244...46,495,651

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 6:36,452,604...36,460,188
Ensembl chr 6:36,452,577...36,460,122

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 chr22:8,263,536...8,272,229
Ensembl chr22:8,261,206...8,269,185

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 chr22:8,287,877...8,309,736
Ensembl chr22:8,289,398...8,311,256

chondrodysplasia punctata

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

arylsulfatase L

susceptibility

NCBI chr X:1,141,316...1,168,690

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:45,652,398...45,660,551
Ensembl chr X:45,653,356...45,660,291

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 8:52,962,686...52,999,006
Ensembl chr 8:52,968,532...52,998,996

chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia

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Evidence

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PubMed Reference(s)

RGD Reference(s)

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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:45,927,625...45,951,636
Ensembl chr X:45,928,092...45,952,929

chondrodysplasia-pseudohermaphroditism syndrome

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PubMed Reference(s)

RGD Reference(s)

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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 chr25:18,790,060...19,140,455
Ensembl chr25:18,792,527...19,119,818

cleidocranial dysplasia

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PubMed Reference(s)

RGD Reference(s)

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G

angiotensinogen

ClinVar Annotator: match by term: Large fontanelles

PMID:25741868 PMID:35005812

NCBI chr25:67,964,840...67,977,006
Ensembl chr25:67,962,401...67,973,324

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 chr17:26,679,386...26,807,812
Ensembl chr17:26,683,175...26,807,319

G

SPT3 homolog, SAGA and STAGA complex component

ClinVar Annotator: match by term: Cleidocranial dysostosis

NCBI chr17:26,849,199...27,417,306

G

T-box transcription factor 1

NCBI chr19:5,980,114...5,986,313
Ensembl chr19:5,980,587...5,987,244

Cleidocranial Dysplasia 2

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Evidence

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PubMed Reference(s)

RGD Reference(s)

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G

core-binding factor subunit beta

ClinVar Annotator: match by term: Cleidocranial dysplasia 2

PMID:25741868 PMID:36241386

NCBI chr 5:60,356,303...60,445,793
Ensembl chr 5:60,356,272...60,445,729

CODAS syndrome

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PubMed Reference(s)

RGD Reference(s)

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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 6:5,348,968...5,371,521
Ensembl chr 6:5,346,426...5,371,507

Cole-Carpenter syndrome

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PubMed Reference(s)

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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 chr16:73,718,743...73,733,488
Ensembl chr16:73,718,656...73,733,892

G

SEC24 homolog D, COPII coat complex component

CTD Direct Evidence: marker/mechanism

NCBI chr 7:66,208,005...66,318,222
Ensembl chr 7:66,207,765...66,318,206

Cole-Carpenter Syndrome 1

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PubMed Reference(s)

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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 chr16:73,718,743...73,733,488
Ensembl chr16:73,718,656...73,733,892

Cole-Carpenter Syndrome 2

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PubMed Reference(s)

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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 7:66,208,005...66,318,222
Ensembl chr 7:66,207,765...66,318,206

Collagenopathy, Type 2 Alpha 1

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PubMed Reference(s)

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collagen type II alpha 1 chain

ClinVar Annotator: match by term: Cartilage collagen

PMID:1905723 PMID:7695699 PMID:8218237 PMID:8423604 PMID:9016532 More...

NCBI chr11:44,196,213...44,227,718
Ensembl chr11:44,196,094...44,227,468

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

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PubMed Reference(s)

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melanocyte inducing transcription factor

ClinVar Annotator: match by term: Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness

PMID:8659547 PMID:16199547 PMID:20127975 PMID:25741868 PMID:27884168 More...

NCBI chr22:30,747,747...30,971,951
Ensembl chr22:30,748,440...30,972,168

Combined Immunodeficiency with Autoimmunity and Spondylometaphyseal Dysplasia

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acid phosphatase 5, tartrate resistant

ClinVar Annotator: match by term: Spondyloenchondrodysplasia with immune dysregulation

PMID:2363422 PMID:9536098 PMID:12786759 PMID:13524805 PMID:16470600