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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Rat (880) Mouse (884) Human (44647) Chinchilla (846) Bonobo (890) Dog (882) Squirrel (851) Pig (871) Green Monkey (875) Naked Mole-rat (845) All
Genes (882)

cartilage disease

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

bone morphogenetic protein 4

treatment

NCBI chr 8:29,997,563...30,254,307
Ensembl chr 8:29,997,569...30,004,557

G

collagen type XI alpha 2 chain

CTD Direct Evidence: marker/mechanism

NCBI chr12:2,626,829...2,656,680
Ensembl chr12:2,627,828...2,655,814

G

collagen type II alpha 1 chain

CTD Direct Evidence: marker/mechanism

NCBI chr27:6,756,994...6,787,733
Ensembl chr27:6,756,994...6,787,733

G

endothelin 1

CTD Direct Evidence: marker/mechanism

NCBI chr35:11,808,892...11,815,383
Ensembl chr35:11,808,892...11,815,383

G

fibroblast growth factor 14

CTD Direct Evidence: marker/mechanism

NCBI chr22:51,379,799...51,983,662
Ensembl chr22:51,380,788...51,982,849

G

GATA binding protein 2

CTD Direct Evidence: marker/mechanism

NCBI chr20:2,472,251...2,488,380
Ensembl chr20:2,473,912...2,480,991

G

matrix metallopeptidase 3 (stromelysin 1, progelatinase)

mRNA:increased expression:articular cartilage

NCBI chr 5:28,949,631...28,957,915
Ensembl chr 5:28,949,631...28,958,222

G

metallothionein 1H

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

NCBI chr 2:59,607,926...59,608,825
Ensembl chr 2:59,607,927...59,626,727

G

natriuretic peptide C

CTD Direct Evidence: marker/mechanism

NCBI chr25:43,714,545...43,718,969
Ensembl chr25:43,717,939...43,718,996

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 chr16:19,295,235...19,442,390
Ensembl chr16:19,296,149...19,442,369

achondrogenesis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

solute carrier family 26 member 2

ClinVar Annotator: match by term: Achondrogenesis

NCBI chr 4:59,068,601...59,090,803
Ensembl chr 4:59,074,008...59,078,892

G

thyroid hormone receptor interactor 11

ClinVar Annotator: match by term: Achondrogenesis

NCBI chr 8:1,244,104...1,314,251
Ensembl chr 8:1,247,155...1,354,720

achondrogenesis type IA

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ankyrin repeat and SOCS box containing 2

ClinVar Annotator: match by term: Achondrogenesis, type IA

NCBI chr 8:63,008,206...63,051,809
Ensembl chr 8:63,008,575...63,051,581

G

ataxin 3

ClinVar Annotator: match by term: Achondrogenesis, type IA

NCBI chr 8:1,318,440...1,354,814
Ensembl chr 8:1,247,155...1,354,720

G

BTB domain containing 7

ClinVar Annotator: match by term: Achondrogenesis, type IA

NCBI chr 8:62,437,825...62,547,419
Ensembl chr 8:62,441,752...62,522,836

G

calmodulin 1

ClinVar Annotator: match by term: Achondrogenesis, type IA

NCBI chr 8:61,398,231...61,408,874
Ensembl chr 8:61,398,244...61,406,195

G

cation channel sperm associated auxiliary subunit beta

ClinVar Annotator: match by term: Achondrogenesis, type IA

NCBI chr 8:910,625...1,058,325
Ensembl chr 8:908,853...1,053,292

G

coiled-coil domain containing 88C

ClinVar Annotator: match by term: Achondrogenesis, type IA

NCBI chr 8:62,123,934...62,245,485
Ensembl chr 8:62,143,029...62,245,491

G

chromogranin A

ClinVar Annotator: match by term: Achondrogenesis, type IA

NCBI chr 8:1,970,966...1,973,511

G

cleavage and polyadenylation specific factor 2

ClinVar Annotator: match by term: Achondrogenesis, type IA

NCBI chr 8:1,364,399...1,398,496
Ensembl chr 8:1,364,353...1,396,255

G

DEAD-box helicase 24

ClinVar Annotator: match by term: Achondrogenesis, type IA

NCBI chr 8:63,115,740...63,136,402
Ensembl chr 8:63,115,746...63,165,905

G

D-glutamate cyclase

ClinVar Annotator: match by term: Achondrogenesis, type IA

NCBI chr 8:62,052,747...62,086,097

G

family with sequence similarity 181 member A

ClinVar Annotator: match by term: Achondrogenesis, type IA

NCBI chr 8:62,995,907...63,004,064
Ensembl chr 8:62,997,073...63,004,062

G

fibulin 5

ClinVar Annotator: match by term: Achondrogenesis, type IA

NCBI chr 8:1,162,203...1,231,809
Ensembl chr 8:1,162,923...1,231,719

G

golgin A5

ClinVar Annotator: match by term: Achondrogenesis, type IA

NCBI chr 8:1,874,716...1,907,251
Ensembl chr 8:1,874,833...1,907,403

G

GON7 subunit of KEOPS complex

ClinVar Annotator: match by term: Achondrogenesis, type IA

NCBI chr 8:62,406,682...62,410,476
Ensembl chr 8:62,407,136...62,410,414

G

G protein-coupled receptor 68

ClinVar Annotator: match by term: Achondrogenesis, type IA

NCBI chr 8:62,090,050...62,108,922
Ensembl chr 8:62,092,135...62,093,217

G

interferon alpha inducible protein 27 like 2

ClinVar Annotator: match by term: Achondrogenesis, type IA

NCBI chr 8:63,163,396...63,166,045

G

inositol-tetrakisphosphate 1-kinase

ClinVar Annotator: match by term: Achondrogenesis, type IA

NCBI chr 8:1,976,089...2,136,228
Ensembl chr 8:1,977,740...2,136,339

G

potassium two pore domain channel subfamily K member 13

ClinVar Annotator: match by term: Achondrogenesis, type IA

NCBI chr 8:61,127,385...61,223,113
Ensembl chr 8:61,126,883...61,222,650

G

legumain

ClinVar Annotator: match by term: Achondrogenesis, type IA

NCBI chr 8:1,810,263...1,843,116
Ensembl chr 8:1,728,273...1,843,050

G

uncharacterized LOC100856429

ClinVar Annotator: match by term: Achondrogenesis, type IA

NCBI chr18:25,401,351...25,402,874

G

lysosomal enzyme trafficking factor

ClinVar Annotator: match by term: Achondrogenesis, type IA

NCBI chr 8:62,394,838...62,398,637
Ensembl chr 8:62,394,832...62,395,881

G

modulator of apoptosis 1

ClinVar Annotator: match by term: Achondrogenesis, type IA

G

NADH:ubiquinone oxidoreductase subunit B1

ClinVar Annotator: match by term: Achondrogenesis, type IA

G

NRDE-2, necessary for RNA interference, domain containing

ClinVar Annotator: match by term: Achondrogenesis, type IA

NCBI chr 8:61,285,998...61,332,518
Ensembl chr 8:61,286,950...61,332,431

G

OTU deubiquitinase, ubiquitin aldehyde binding 2

ClinVar Annotator: match by term: Achondrogenesis, type IA

NCBI chr 8:63,094,378...63,114,028
Ensembl chr 8:63,095,238...63,118,441

G

protein phosphatase 4 regulatory subunit 3A

ClinVar Annotator: match by term: Achondrogenesis, type IA

NCBI chr 8:62,304,805...62,344,232
Ensembl chr 8:62,305,947...62,344,147

G

protein phosphatase 4 regulatory subunit 4

ClinVar Annotator: match by term: Achondrogenesis, type IA

NCBI chr 8:63,203,297...63,300,354
Ensembl chr 8:63,202,553...63,299,253

G

proline rich membrane anchor 1

ClinVar Annotator: match by term: Achondrogenesis, type IA

NCBI chr 8:62,843,314...62,903,238
Ensembl chr 8:62,843,300...62,903,444

G

proteasome 26S subunit, ATPase 1

ClinVar Annotator: match by term: Achondrogenesis, type IA

NCBI chr 8:61,272,363...61,285,886
Ensembl chr 8:61,272,363...61,285,886

G

Ras and Rab interactor 3

ClinVar Annotator: match by term: Achondrogenesis, type IA

NCBI chr 8:1,733,051...1,804,138
Ensembl chr 8:1,700,161...1,803,950

G

ribosomal protein S6 kinase A5

ClinVar Annotator: match by term: Achondrogenesis, type IA

NCBI chr 8:61,801,185...61,962,846
Ensembl chr 8:61,802,812...61,973,259

G

serpin family A member 1

ClinVar Annotator: match by term: Achondrogenesis, type IA

NCBI chr 8:63,388,498...63,400,377
Ensembl chr 8:63,376,945...63,398,435

G

serpin family A member 6

ClinVar Annotator: match by term: Achondrogenesis, type IA

NCBI chr 8:63,323,896...63,341,829
Ensembl chr 8:63,323,933...63,453,708

G

solute carrier family 24 member 4

ClinVar Annotator: match by term: Achondrogenesis, type IA

NCBI chr 8:1,570,833...1,685,135
Ensembl chr 8:1,517,560...1,680,208

G

tandem C2 domains, nuclear

ClinVar Annotator: match by term: Achondrogenesis, type IA

NCBI chr 8:1,088,618...1,160,322
Ensembl chr 8:1,093,201...1,133,626

G

tyrosyl-DNA phosphodiesterase 1

ClinVar Annotator: match by term: Achondrogenesis, type IA

NCBI chr 8:61,023,564...61,107,599
Ensembl chr 8:61,024,084...61,107,506

G

thyroid hormone receptor interactor 11

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

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

NCBI chr 8:1,244,104...1,314,251
Ensembl chr 8:1,247,155...1,354,720

G

tetratricopeptide repeat domain 7B

ClinVar Annotator: match by term: Achondrogenesis, type IA

NCBI chr 8:61,509,290...61,735,155
Ensembl chr 8:61,509,992...61,735,141

G

ubiquitin protein ligase E3 component n-recognin 7

ClinVar Annotator: match by term: Achondrogenesis, type IA

NCBI chr 8:62,410,589...62,426,436
Ensembl chr 8:62,410,640...62,435,677

G

unc-79 homolog, NALCN channel complex subunit

ClinVar Annotator: match by term: Achondrogenesis, type IA

NCBI chr 8:62,629,622...62,832,074
Ensembl chr 8:62,594,083...62,831,367

achondrogenesis type IB

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

solute carrier family 26 member 2

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

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

NCBI chr 4:59,068,601...59,090,803
Ensembl chr 4:59,074,008...59,078,892

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 chr27:6,756,994...6,787,733
Ensembl chr27:6,756,994...6,787,733

achondroplasia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

aggrecan

OMIM:100800

NCBI chr 3:51,995,100...52,031,812
Ensembl chr 3:51,969,779...52,031,544

G

fibrillin 1

ClinVar Annotator: match by term: Achondroplasia

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

NCBI chr30:14,640,973...14,864,151
Ensembl chr30:14,640,973...14,864,151

G

fibroblast growth factor receptor 3

severity

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

OMIM
ClinVar
RGD

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

NCBI chr 3:62,309,128...62,318,932
Ensembl chr 3:62,303,756...62,323,896

G

natriuretic peptide C

OMIM:100800

NCBI chr25:43,714,545...43,718,969
Ensembl chr25:43,717,939...43,718,996

G

natriuretic peptide receptor 2

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

NCBI chr11:52,283,680...52,339,247
Ensembl chr11:52,321,590...52,339,249

G

parathyroid hormone like hormone

OMIM:100800

NCBI chr27:19,781,557...19,795,078
Ensembl chr27:19,781,557...19,795,078

G

sprouty related EVH1 domain containing 2

OMIM:100800

NCBI chr10:64,764,275...64,815,937
Ensembl chr10:64,764,311...64,867,009

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 chr 3:62,309,128...62,318,932
Ensembl chr 3:62,303,756...62,323,896

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 chr37:25,616,942...25,622,989

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 chr 9:15,205,887...15,218,873
Ensembl chr 9:15,207,300...15,230,447

G

phosphodiesterase 4D

ClinVar Annotator: match by term: Acrodysostosis

PMID:25741868 PMID:28492532

NCBI chr 2:45,843,767...47,245,263
Ensembl chr 2:45,846,294...46,949,912

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 chr 9:15,180,940...15,203,035
Ensembl chr 9:15,181,393...15,200,683

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 chr 9:15,180,940...15,203,035
Ensembl chr 9:15,181,393...15,200,683

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 2:47,295,970...47,369,234
Ensembl chr 2:47,296,656...47,482,064

G

phosphodiesterase 4D

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

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

NCBI chr 2:45,843,767...47,245,263
Ensembl chr 2:45,846,294...46,949,912

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 chr24:24,395,699...24,400,302
Ensembl chr24:24,395,263...24,399,928

G

natriuretic peptide receptor 2

ClinVar Annotator: match by term: Acromesomelic dysplasia

NCBI chr11:52,283,680...52,339,247
Ensembl chr11:52,321,590...52,339,249

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 chr24:24,395,699...24,400,302
Ensembl chr24:24,395,263...24,399,928

acromesomelic dysplasia, Hunter-Thompson type

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

bone morphogenetic protein receptor type 1B

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

NCBI chr32:17,761,555...17,978,056
Ensembl chr32:17,870,904...18,016,444

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 chr24:24,395,699...24,400,302
Ensembl chr24:24,395,263...24,399,928

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 chr11:50,111,003...50,155,937
Ensembl chr11:50,113,073...50,132,284

G

aquaporin 3

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

NCBI chr11:50,517,509...50,524,565

G

aquaporin 7

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

NCBI chr11:50,474,007...50,488,191

G

Rho guanine nucleotide exchange factor 39

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

NCBI chr11:52,191,170...52,200,769
Ensembl chr11:52,196,462...52,200,778

G

AT-rich interaction domain 3C

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

NCBI chr11:51,294,605...51,301,979
Ensembl chr11:51,295,030...51,301,547

G

atos homolog B

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

NCBI chr11:51,680,308...51,692,340
Ensembl chr11:51,681,329...51,683,969

G

beta-1,4-galactosyltransferase 1

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

NCBI chr11:50,223,880...50,276,745
Ensembl chr11:50,226,242...50,276,730

G

BAG cochaperone 1

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

NCBI chr11:50,348,833...50,363,532
Ensembl chr11:50,350,999...50,363,581

G

carbonic anhydrase 9

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

NCBI chr11:52,205,619...52,211,281
Ensembl chr11:52,205,668...52,211,267

G

coiled-coil domain containing 107

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

NCBI chr11:52,194,412...52,196,817
Ensembl chr11:52,194,293...52,196,815

G

calicin

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

NCBI chr11:52,637,580...52,640,121

G

C-C motif chemokine ligand 19

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

NCBI chr11:51,357,706...51,359,207
Ensembl chr11:51,340,530...51,359,365

G

C-C motif chemokine ligand 21

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

NCBI chr11:51,375,107...51,375,790

G

C-C motif chemokine ligand 27

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

NCBI chr11:51,334,870...51,338,752
Ensembl chr11:51,334,778...51,335,591

G

CD72 molecule

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

NCBI chr11:52,170,893...52,179,035
Ensembl chr11:52,170,893...52,178,301

G

charged multivesicular body protein 5

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

NCBI chr11:50,363,488...50,376,081

G

ciliary microtubule inner protein 2B

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

NCBI chr11:52,144,806...52,164,782
Ensembl chr11:52,144,801...52,146,823

G

clathrin light chain A

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

NCBI chr11:52,636,328...52,681,258
Ensembl chr11:52,615,039...52,681,270

G

ciliary neurotrophic factor receptor

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

NCBI chr11:51,226,951...51,266,431
Ensembl chr11:51,227,509...51,245,188

G

cAMP responsive element binding protein 3

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

NCBI chr11:52,260,340...52,265,085
Ensembl chr11:52,260,420...52,266,515

G

DDB1 and CUL4 associated factor 12

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

NCBI chr11:50,843,818...50,878,833
Ensembl chr11:50,845,773...50,878,838

G

dynactin subunit 3

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

NCBI chr11:51,287,966...51,294,049
Ensembl chr11:51,287,967...51,294,051

G

dynein axonemal intermediate chain 1

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

NCBI chr11:51,080,080...51,205,381
Ensembl chr11:51,106,370...51,237,467

G

DnaJ heat shock protein family (Hsp40) member A1

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

NCBI chr11:50,156,089...50,168,379
Ensembl chr11:50,156,089...50,167,536

G

DnaJ heat shock protein family (Hsp40) member B5

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

NCBI chr11:51,587,728...51,596,911
Ensembl chr11:51,587,295...51,595,839

G

energy homeostasis associated

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

NCBI chr11:51,205,439...51,207,447

G

exosome component 3

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

NCBI chr11:54,072,993...54,079,024
Ensembl chr11:54,073,313...54,078,598

G

family with sequence similarity 205 member A

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

NCBI chr11:51,429,911...51,436,517
Ensembl chr11:51,430,091...51,435,019

G

family with sequence similarity 219 member A

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

NCBI chr11:51,092,364...51,144,324
Ensembl chr11:51,092,470...51,144,168

G

family with sequence similarity 221 member B

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

NCBI chr11:52,348,496...52,351,671
Ensembl chr11:52,348,231...52,356,719

G

FA complementation group G

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

NCBI chr11:51,652,939...51,659,766
Ensembl chr11:51,652,944...51,659,751

G

F-box protein 10

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

NCBI chr11:53,833,335...53,885,416
Ensembl chr11:53,835,003...53,896,930

G

FERM and PDZ domain containing 1

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

NCBI chr11:53,901,625...54,051,885
Ensembl chr11:53,939,807...54,051,756

G

galactose-1-phosphate uridylyltransferase

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

NCBI chr11:51,319,812...51,323,337
Ensembl chr11:51,319,347...51,334,802

G

glucosylceramidase beta 2

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

NCBI chr11:52,264,959...52,277,298
Ensembl chr11:52,265,070...52,277,213

G

GLI pathogenesis related 2

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

NCBI chr11:52,622,460...52,634,602
Ensembl chr11:52,615,039...52,681,270

G

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

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

NCBI chr11:52,688,295...52,731,160
Ensembl chr11:52,689,343...52,731,231

G

glyoxylate and hydroxypyruvate reductase

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

NCBI chr11:53,748,389...53,759,692
Ensembl chr11:53,748,414...53,759,693

G

histidine triad nucleotide binding protein 2

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

NCBI chr11:52,342,564...52,344,994
Ensembl chr11:52,342,567...52,344,947

G

histidine rich carboxyl terminus 1

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

NCBI chr11:52,420,070...52,421,097
Ensembl chr11:52,420,011...52,420,629

G

interleukin 11 receptor subunit alpha

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

NCBI chr11:51,324,915...51,341,981

G

kinesin family member 24

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

NCBI chr11:50,974,376...51,049,862
Ensembl chr11:50,976,627...51,022,382

G

maternal embryonic leucine zipper kinase

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

NCBI chr11:52,970,699...53,067,169
Ensembl chr11:52,977,260...53,067,172

G

microseminoprotein, prostate associated

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

NCBI chr11:52,280,528...52,281,559
Ensembl chr11:52,280,528...52,281,541

G

myogenesis regulating glycosidase

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

NCBI chr11:51,070,088...51,077,595
Ensembl chr11:51,071,707...51,073,851

G

NADH:ubiquinone oxidoreductase subunit B6

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

NCBI chr11:49,821,998...49,833,624
Ensembl chr22:3,526,115...3,526,501

G

nuclear transcription factor, X-box binding 1

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

NCBI chr11:50,387,368...50,462,978
Ensembl chr11:50,387,883...50,462,428

G

nucleolar protein 6

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

NCBI chr11:50,533,150...50,544,770
Ensembl chr11:50,533,453...50,545,094

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 chr11:52,283,680...52,339,247
Ensembl chr11:52,321,590...52,339,249

G

nudix hydrolase 2

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

NCBI chr11:51,049,992...51,064,317
Ensembl chr11:51,050,053...51,064,178

G

olfactory receptor family 13 subfamily C member 11B

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

NCBI chr11:52,449,404...52,450,363

G

olfactory receptor family 13 subfamily J member 1

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

NCBI chr11:52,399,129...52,400,349
Ensembl chr11:52,399,129...52,400,067

G

paired box 5

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

NCBI chr11:53,194,905...53,390,204
Ensembl chr11:53,201,344...53,390,974

G

PHD finger protein 24

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

NCBI chr11:51,552,345...51,580,762
Ensembl chr11:51,569,770...51,577,059

G

phosphatidylinositol glycan anchor biosynthesis class O

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

NCBI chr11:51,661,954...51,671,169
Ensembl chr11:51,663,577...51,671,178

G

RNA polymerase I subunit E

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

NCBI chr11:53,793,324...53,808,725
Ensembl chr11:53,793,042...53,808,724

G

serine protease 2

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

NCBI chr16:6,778,109...6,781,404

G

reversion inducing cysteine rich protein with kazal motifs

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

NCBI chr11:52,519,303...52,607,753
Ensembl chr11:52,519,317...52,607,217

G

RGP1 homolog, RAB6A GEF complex partner 1

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

NCBI chr11:52,276,151...52,280,482
Ensembl chr11:52,277,189...52,281,639

G

RNA sensor RIG-I

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

NCBI chr11:49,764,252...49,799,626
Ensembl chr11:49,764,267...49,799,527

G

ring finger protein 38

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

NCBI chr11:52,764,216...52,827,993
Ensembl chr11:52,764,220...52,901,983

G

ribonuclease P/MRP subunit p25 like

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

NCBI chr11:51,284,382...51,286,891

G

RUN and SH3 domain containing 2

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

NCBI chr11:52,074,234...52,144,854
Ensembl chr11:52,120,179...52,144,356

G

sigma non-opioid intracellular receptor 1

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

NCBI chr11:51,310,672...51,313,426
Ensembl chr11:51,311,085...51,313,400

G

signaling threshold regulating transmembrane adaptor 1

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

NCBI chr11:52,189,585...52,191,255
Ensembl chr11:52,190,215...52,191,308

G

SMU1 DNA replication regulator and spliceosomal factor

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

NCBI chr11:50,172,679...50,195,719
Ensembl chr11:50,174,153...50,195,644

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 chr11:52,339,338...52,341,642
Ensembl chr11:52,339,339...52,341,522

G

SPATA31 subfamily G member 1

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

NCBI chr11:51,624,571...51,629,189
Ensembl chr11:51,625,604...51,629,131

G

serine peptidase inhibitor Kazal type 4

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

NCBI chr11:50,340,068...50,345,777
Ensembl chr11:50,340,145...50,345,777

G

sperm microtubule inner protein 6

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

NCBI chr11:51,078,682...51,092,014
Ensembl chr11:51,078,808...51,091,818

G

stomatin like 2

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

NCBI chr11:51,675,963...51,679,313
Ensembl chr11:51,675,963...51,679,199

G

testis associated actin remodelling kinase 1

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

NCBI chr11:52,166,049...52,170,611
Ensembl chr11:52,166,276...52,170,309

G

talin 1

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

NCBI chr11:52,227,286...52,260,112
Ensembl chr11:52,227,611...52,259,915

G

transmembrane protein 215

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

NCBI chr11:49,980,861...49,983,122

G

transmembrane protein 8B

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

NCBI chr11:52,344,566...52,387,049
Ensembl chr11:52,355,933...52,386,466

G

translocase of outer mitochondrial membrane 5

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

NCBI chr11:53,896,300...53,901,523
Ensembl chr11:53,896,305...53,901,489

G

TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase

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

NCBI chr11:49,809,156...49,821,224
Ensembl chr11:49,809,465...49,821,075

G

tropomyosin 2

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

NCBI chr11:52,212,372...52,219,947
Ensembl chr11:52,212,401...52,219,923

G

tRNA methyltransferase 10B

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

NCBI chr11:54,056,251...54,071,870
Ensembl chr11:54,056,312...54,071,692

G

ubiquitin associated protein 1

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

NCBI chr11:50,890,090...50,974,901
Ensembl chr11:50,918,939...50,974,159

G

ubiquitin associated protein 2

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

NCBI chr11:50,679,601...50,803,455
Ensembl chr11:50,675,525...50,802,940

G

ubiquitin conjugating enzyme E2 R2

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

NCBI chr11:50,554,173...50,678,284
Ensembl chr11:50,554,349...50,675,514

G

unc-13 homolog B

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

NCBI chr11:51,707,968...51,941,148
Ensembl chr11:51,708,302...51,940,955

G

valosin containing protein

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

NCBI chr11:51,636,986...51,651,749
Ensembl chr11:51,637,411...51,651,714

G

zinc finger and BTB domain containing 5

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

NCBI chr11:53,760,510...53,774,864
Ensembl chr11:53,762,839...53,774,921

G

zinc finger CCHC-type containing 7

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

NCBI chr11:53,434,007...53,686,187
Ensembl chr11:53,438,985...53,685,855

acromesomelic dysplasia-3

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

bone morphogenetic protein receptor type 1B

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

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

NCBI chr32:17,761,555...17,978,056
Ensembl chr32:17,870,904...18,016,444

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 chr32:5,266,435...5,365,396
Ensembl chr32:5,266,442...5,365,396

acromicric dysplasia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ADAMTS like 2

ClinVar Annotator: match by term: Geleophysic dwarfism

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

NCBI chr 9:49,925,738...49,958,870
Ensembl chr 9:49,925,755...49,958,300

G

B9 domain containing 2

CTD Direct Evidence: marker/mechanism

NCBI chr 1:112,621,832...112,627,726
Ensembl chr 1:112,621,633...112,643,885

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 chr30:14,640,973...14,864,151
Ensembl chr30:14,640,973...14,864,151

G

SMAD family member 2

CTD Direct Evidence: marker/mechanism

NCBI chr 7:43,696,883...43,778,063
Ensembl chr 7:43,700,445...43,769,983

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 chr 7:39,289,517...39,309,026
Ensembl chr 7:39,288,147...39,307,606

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 chr11:52,191,170...52,200,769
Ensembl chr11:52,196,462...52,200,778

G

AT-rich interaction domain 3C

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr11:51,294,605...51,301,979
Ensembl chr11:51,295,030...51,301,547

G

atos homolog B

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr11:51,680,308...51,692,340
Ensembl chr11:51,681,329...51,683,969

G

carbonic anhydrase 9

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr11:52,205,619...52,211,281
Ensembl chr11:52,205,668...52,211,267

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 chr11:52,194,412...52,196,817
Ensembl chr11:52,194,293...52,196,815

G

calicin

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr11:52,637,580...52,640,121

G

C-C motif chemokine ligand 19

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr11:51,357,706...51,359,207
Ensembl chr11:51,340,530...51,359,365

G

C-C motif chemokine ligand 21

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr11:51,375,107...51,375,790

G

C-C motif chemokine ligand 27

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr11:51,334,870...51,338,752
Ensembl chr11:51,334,778...51,335,591

G

CD72 molecule

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr11:52,170,893...52,179,035
Ensembl chr11:52,170,893...52,178,301

G

ciliary microtubule inner protein 2B

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr11:52,144,806...52,164,782
Ensembl chr11:52,144,801...52,146,823

G

clathrin light chain A

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr11:52,636,328...52,681,258
Ensembl chr11:52,615,039...52,681,270

G

ciliary neurotrophic factor receptor

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr11:51,226,951...51,266,431
Ensembl chr11:51,227,509...51,245,188

G

cAMP responsive element binding protein 3

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr11:52,260,340...52,265,085
Ensembl chr11:52,260,420...52,266,515

G

dynactin subunit 3

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr11:51,287,966...51,294,049
Ensembl chr11:51,287,967...51,294,051

G

dynein axonemal intermediate chain 1

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr11:51,080,080...51,205,381
Ensembl chr11:51,106,370...51,237,467

G

DnaJ heat shock protein family (Hsp40) member B5

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr11:51,587,728...51,596,911
Ensembl chr11:51,587,295...51,595,839

G

energy homeostasis associated

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr11:51,205,439...51,207,447

G

family with sequence similarity 205 member A

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr11:51,429,911...51,436,517
Ensembl chr11:51,430,091...51,435,019

G

family with sequence similarity 219 member A

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr11:51,092,364...51,144,324
Ensembl chr11:51,092,470...51,144,168

G

family with sequence similarity 221 member B

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr11:52,348,496...52,351,671
Ensembl chr11:52,348,231...52,356,719

G

FA complementation group G

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr11:51,652,939...51,659,766
Ensembl chr11:51,652,944...51,659,751

G

galactose-1-phosphate uridylyltransferase

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr11:51,319,812...51,323,337
Ensembl chr11:51,319,347...51,334,802

G

glucosylceramidase beta 2

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr11:52,264,959...52,277,298
Ensembl chr11:52,265,070...52,277,213

G

GLI pathogenesis related 2

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr11:52,622,460...52,634,602
Ensembl chr11:52,615,039...52,681,270

G

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

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr11:52,688,295...52,731,160
Ensembl chr11:52,689,343...52,731,231

G

histidine triad nucleotide binding protein 2

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr11:52,342,564...52,344,994
Ensembl chr11:52,342,567...52,344,947

G

histidine rich carboxyl terminus 1

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr11:52,420,070...52,421,097
Ensembl chr11:52,420,011...52,420,629

G

interleukin 11 receptor subunit alpha

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr11:51,324,915...51,341,981

G

uncharacterized LOC111098084

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr11:51,338,409...51,339,544

G

spermatogenesis-associated protein 31D4-like

ClinVar Annotator: match by term: Anauxetic dysplasia

G

microseminoprotein, prostate associated

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr11:52,280,528...52,281,559
Ensembl chr11:52,280,528...52,281,541

G

myogenesis regulating glycosidase

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr11:51,070,088...51,077,595
Ensembl chr11:51,071,707...51,073,851

G

natriuretic peptide receptor 2

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr11:52,283,680...52,339,247
Ensembl chr11:52,321,590...52,339,249

G

olfactory receptor family 13 subfamily C member 11B

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr11:52,449,404...52,450,363

G

olfactory receptor family 13 subfamily J member 1

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr11:52,399,129...52,400,349
Ensembl chr11:52,399,129...52,400,067

G

PHD finger protein 24

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr11:51,552,345...51,580,762
Ensembl chr11:51,569,770...51,577,059

G

phosphatidylinositol glycan anchor biosynthesis class O

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr11:51,661,954...51,671,169
Ensembl chr11:51,663,577...51,671,178

G

reversion inducing cysteine rich protein with kazal motifs

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr11:52,519,303...52,607,753
Ensembl chr11:52,519,317...52,607,217

G

RGP1 homolog, RAB6A GEF complex partner 1

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr11:52,276,151...52,280,482
Ensembl chr11:52,277,189...52,281,639

G

ribonuclease P/MRP subunit p25 like

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr11:51,284,382...51,286,891

G

RUN and SH3 domain containing 2

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr11:52,074,234...52,144,854
Ensembl chr11:52,120,179...52,144,356

G

sigma non-opioid intracellular receptor 1

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr11:51,310,672...51,313,426
Ensembl chr11:51,311,085...51,313,400

G

signaling threshold regulating transmembrane adaptor 1

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr11:52,189,585...52,191,255
Ensembl chr11:52,190,215...52,191,308

G

small regulatory polypeptide of amino acid response

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr11:52,424,607...52,427,288
Ensembl chr11:52,426,076...52,426,303

G

sperm associated antigen 8

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr11:52,339,338...52,341,642
Ensembl chr11:52,339,339...52,341,522

G

SPATA31 subfamily G member 1

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr11:51,624,571...51,629,189
Ensembl chr11:51,625,604...51,629,131

G

sperm microtubule inner protein 6

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr11:51,078,682...51,092,014
Ensembl chr11:51,078,808...51,091,818

G

stomatin like 2

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr11:51,675,963...51,679,313
Ensembl chr11:51,675,963...51,679,199

G

testis associated actin remodelling kinase 1

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr11:52,166,049...52,170,611
Ensembl chr11:52,166,276...52,170,309

G

talin 1

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr11:52,227,286...52,260,112
Ensembl chr11:52,227,611...52,259,915

G

transmembrane protein 8B

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr11:52,344,566...52,387,049
Ensembl chr11:52,355,933...52,386,466

G

tropomyosin 2

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr11:52,212,372...52,219,947
Ensembl chr11:52,212,401...52,219,923

G

unc-13 homolog B

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr11:51,707,968...51,941,148
Ensembl chr11:51,708,302...51,940,955

G

valosin containing protein

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr11:51,636,986...51,651,749
Ensembl chr11:51,637,411...51,651,714

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 chr11:52,194,412...52,196,817
Ensembl chr11:52,194,293...52,196,815

G

POP1 homolog, ribonuclease P/MRP subunit

CTD Direct Evidence: marker/mechanism

NCBI chr13:361,095...398,214
Ensembl chr13:361,157...396,628

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 chr13:361,095...398,214
Ensembl chr13:361,157...396,628

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 chr33:17,392,962...17,406,385
Ensembl chr33:17,393,154...17,406,338

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 5:29,543,987...29,682,998
Ensembl chr 5:29,544,234...29,679,594

G

B9 domain containing 1

ClinVar Annotator: match by term: Jeune thoracic dystrophy

NCBI chr 5:40,854,110...40,866,828
Ensembl chr 5:40,854,127...40,866,824

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 5:29,294,080...29,314,837
Ensembl chr 5:29,294,692...29,312,771

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 5:29,324,893...29,343,322
Ensembl chr 5:29,325,331...29,337,240

G

C2 domain containing 3 centriole elongation regulator

ClinVar Annotator: match by term: Jeune thoracic dystrophy

PMID:25741868 PMID:26092869

NCBI chr21:24,127,390...24,272,473
Ensembl chr21:24,127,598...24,272,657

G

centrosomal protein 120

CTD Direct Evidence: marker/mechanism

NCBI chr11:13,184,590...13,306,975
Ensembl chr11:13,143,672...13,266,151

G

centrosomal protein 126

ClinVar Annotator: match by term: Jeune thoracic dystrophy

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

NCBI chr 5:29,559,408...29,660,434
Ensembl chr 5:29,559,740...29,660,434

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 5:29,511,852...29,532,684
Ensembl chr 5:29,512,182...29,527,849

G

ciliogenesis associated kinase 1

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

NCBI chr12:20,453,322...20,511,463
Ensembl chr12:20,450,834...20,511,673

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 chr27:6,756,994...6,787,733
Ensembl chr27:6,756,994...6,787,733

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 chr36:10,664,555...10,863,366
Ensembl chr36:10,664,365...10,850,520

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 5:28,740,154...28,767,526
Ensembl chr 5:28,740,087...28,766,858

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 5:28,566,604...28,727,416
Ensembl chr 5:28,388,664...28,727,334

G

dynein 2 intermediate chain 1

ClinVar Annotator: match by term: Jeune thoracic dystrophy

PMID:25741868 PMID:28492532 PMID:29068549

NCBI chr16:20,810,735...20,859,441
Ensembl chr16:20,810,345...20,859,037

G

dynein 2 intermediate chain 2

ClinVar Annotator: match by term: Jeune thoracic dystrophy

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

NCBI chr 9:54,930,039...54,953,752
Ensembl chr 9:54,930,054...54,953,751

G

dynein cytoplasmic 2 light intermediate chain 1

CTD Direct Evidence: marker/mechanism

NCBI chr10:46,231,433...46,270,102
Ensembl chr10:46,231,460...46,290,382

G

dynein light chain Tctex-type 2B

CTD Direct Evidence: marker/mechanism

NCBI chr33:29,414,484...29,430,439

G

EvC ciliary complex subunit 2

ClinVar Annotator: match by term: Jeune thoracic dystrophy

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

NCBI chr 3:70,809,649...70,935,391
Ensembl chr 3:70,810,048...70,935,860

G

fibroblast growth factor receptor 3

ClinVar Annotator: match by term: Short ribs

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

NCBI chr 3:62,309,128...62,318,932
Ensembl chr 3:62,303,756...62,323,896

G

FLVCR choline and heme transporter 1

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

NCBI chr 7:11,001,155...11,038,910
Ensembl chr 7:11,001,101...11,035,980

G

fuzzy planar cell polarity protein

ClinVar Annotator: match by term: Jeune thoracic dystrophy

NCBI chr 1:106,742,381...106,752,543
Ensembl chr 1:106,747,860...106,805,699

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 chr36:10,895,366...10,990,848
Ensembl chr36:10,896,128...10,919,000

G

G protein-coupled receptor kinase 2

ClinVar Annotator: match by term: Jeune thoracic dystrophy

NCBI chr18:50,148,566...50,167,422
Ensembl chr18:50,148,598...50,167,428

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 6:39,262,887...39,308,912
Ensembl chr 6:39,295,045...39,308,758

G

intraflagellar transport 172

CTD Direct Evidence: marker/mechanism

NCBI chr17:21,389,462...21,426,970
Ensembl chr17:21,389,482...21,426,796

G

intraflagellar transport 43

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

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

NCBI chr 8:48,949,740...49,031,614
Ensembl chr 8:48,949,822...49,031,608

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 chr24:31,295,987...31,334,825
Ensembl chr24:31,296,015...31,334,808

G

intraflagellar transport 74

ClinVar Annotator: match by term: Jeune thoracic dystrophy

NCBI chr11:45,159,124...45,242,019
Ensembl chr11:45,161,086...45,242,012

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 chr34:26,332,456...26,455,428

G

intraflagellar transport 81

ClinVar Annotator: match by term: Jeune thoracic dystrophy

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

NCBI chr26:8,017,315...8,123,972
Ensembl chr26:8,017,384...8,100,402

G

intraflagellar transport 88

ClinVar Annotator: match by term: Jeune thoracic dystrophy

NCBI chr25:17,414,965...17,551,405
Ensembl chr25:17,414,965...17,551,266

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 chr19:13,193,252...13,276,593
Ensembl chr19:13,164,245...13,276,496

G

KIAA0586

ClinVar Annotator: match by term: Jeune thoracic dystrophy

NCBI chr 8:33,771,357...33,880,910
Ensembl chr 8:33,771,504...33,880,877

G

KIAA0753

ClinVar Annotator: match by term: Jeune thoracic dystrophy

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

NCBI chr 5:30,708,361...30,749,773
Ensembl chr 5:30,708,253...30,748,878

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 chr 7:39,289,517...39,309,026
Ensembl chr 7:39,288,147...39,307,606

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 chr17:15,037,175...15,054,451
Ensembl chr17:15,037,995...15,054,436

G

matrix metallopeptidase 1

ClinVar Annotator: match by term: Jeune thoracic dystrophy

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

NCBI chr 5:28,978,385...28,986,644
Ensembl chr 5:28,978,473...28,986,648

G

matrix metallopeptidase 12

ClinVar Annotator: match by term: Jeune thoracic dystrophy

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

NCBI chr 5:28,918,626...28,933,404
Ensembl chr 5:28,918,594...28,933,309

G

matrix metallopeptidase 13

ClinVar Annotator: match by term: Jeune thoracic dystrophy

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

NCBI chr 5:28,793,568...28,864,832
Ensembl chr 5:28,850,522...28,864,121

G

matrix metallopeptidase 20

ClinVar Annotator: match by term: Jeune thoracic dystrophy

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

NCBI chr 5:29,106,717...29,154,628
Ensembl chr 5:29,106,717...29,155,071

G

matrix metallopeptidase 27

ClinVar Annotator: match by term: Jeune thoracic dystrophy

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

NCBI chr 5:29,051,205...29,064,364
Ensembl chr 5:29,051,000...29,064,702

G

matrix metallopeptidase 3 (stromelysin 1, progelatinase)

ClinVar Annotator: match by term: Jeune thoracic dystrophy

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

NCBI chr 5:28,949,631...28,957,915
Ensembl chr 5:28,949,631...28,958,222

G

matrix metallopeptidase 7

ClinVar Annotator: match by term: Jeune thoracic dystrophy

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

NCBI chr 5:29,187,902...29,196,157
Ensembl chr 5:29,187,851...29,196,153

G

matrix metallopeptidase 8

ClinVar Annotator: match by term: Jeune thoracic dystrophy

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

NCBI chr 5:29,036,381...29,047,180
Ensembl chr 5:29,035,820...29,046,808

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 chr25:20,297,190...20,528,537
Ensembl chr25:20,299,079...20,518,483

G

RAB34, member RAS oncogene family

ClinVar Annotator: match by term: Jeune's syndrome

PMID:25741868 PMID:37619988

NCBI chr 9:42,909,843...42,913,935
Ensembl chr 9:42,910,011...42,913,985

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 chr36:11,105,936...11,245,978
Ensembl chr36:11,108,050...11,183,496

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 chr36:10,472,496...10,605,055
Ensembl chr36:10,472,361...10,602,685

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 chr36:10,300,091...10,405,361
Ensembl chr36:10,302,191...10,377,923

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 chr36:11,287,358...11,382,897
Ensembl chr36:11,290,625...11,383,255

G

SAFB like transcription modulator

ClinVar Annotator: match by term: Jeune thoracic dystrophy

NCBI chr30:23,858,626...23,902,042
Ensembl chr30:23,859,194...23,902,009

G

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

NCBI chr32:17,089,514...17,167,917
Ensembl chr32:17,090,293...17,166,648

G

spectrin alpha, non-erythrocytic 1

ClinVar Annotator: match by term: Jeune thoracic dystrophy

PMID:24183451 PMID:28492532 PMID:29068549

NCBI chr 9:54,953,751...55,015,475
Ensembl chr 9:54,953,747...55,015,376

G

transmembrane protein 123

ClinVar Annotator: match by term: Jeune thoracic dystrophy

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

NCBI chr 5:29,223,682...29,284,076

G

TRAF3 interacting protein 1

ClinVar Annotator: match by term: Jeune thoracic dystrophy

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

NCBI chr25:48,782,448...48,836,993
Ensembl chr25:48,782,463...48,834,374

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 5:29,897,378...30,007,885
Ensembl chr 5:29,897,210...30,007,723

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 chr36:11,009,362...11,086,586
Ensembl chr36:11,010,296...11,086,674

G

WD repeat domain 19

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

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

NCBI chr 3:73,115,560...73,213,823
Ensembl chr 3:73,137,250...73,221,512

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 chr17:14,976,662...15,034,918
Ensembl chr17:14,977,457...15,034,748

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 5:29,394,760...29,495,977
Ensembl chr 5:29,394,541...29,496,251

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 chr10:46,261,747...46,300,084
Ensembl chr10:46,271,772...46,299,773

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 chr36:10,664,555...10,863,366
Ensembl chr36:10,664,365...10,850,520

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 5:28,566,604...28,727,416
Ensembl chr 5:28,388,664...28,727,334

G

dynein 2 intermediate chain 1

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

PMID:25741868 PMID:28492532 PMID:29068549

NCBI chr16:20,810,735...20,859,441
Ensembl chr16:20,810,345...20,859,037

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 chr10:46,231,433...46,270,102
Ensembl chr10:46,231,460...46,290,382

G

EvC ciliary complex subunit 2

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

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

NCBI chr 3:70,809,649...70,935,391
Ensembl chr 3:70,810,048...70,935,860

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 chr36:10,895,366...10,990,848
Ensembl chr36:10,896,128...10,919,000

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 6:39,262,887...39,308,912
Ensembl chr 6:39,295,045...39,308,758

G

intraflagellar transport 172

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

PMID:25741868 PMID:28492532

NCBI chr17:21,389,462...21,426,970
Ensembl chr17:21,389,482...21,426,796

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 chr34:26,332,456...26,455,428

G

lamin B receptor

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

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

NCBI chr 7:39,289,517...39,309,026
Ensembl chr 7:39,288,147...39,307,606

G

NIMA related kinase 1

ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 1

NCBI chr25:20,297,190...20,528,537
Ensembl chr25:20,299,079...20,518,483

G

RAB34, member RAS oncogene family

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

PMID:25741868 PMID:37619988

NCBI chr 9:42,909,843...42,913,935
Ensembl chr 9:42,910,011...42,913,985

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 chr36:11,105,936...11,245,978
Ensembl chr36:11,108,050...11,183,496

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 chr36:10,472,496...10,605,055
Ensembl chr36:10,472,361...10,602,685

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 chr36:10,300,091...10,405,361
Ensembl chr36:10,302,191...10,377,923

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 chr36:11,287,358...11,382,897
Ensembl chr36:11,290,625...11,383,255

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 chr36:11,009,362...11,086,586
Ensembl chr36:11,010,296...11,086,674

G

WD repeat domain 19

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

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

NCBI chr 3:73,115,560...73,213,823
Ensembl chr 3:73,137,250...73,221,512

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 chr34:26,332,456...26,455,428

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 chr28:29,792,612...29,815,466
Ensembl chr28:29,792,777...29,815,138

G

dynein cytoplasmic 1 heavy chain 1

ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 3

PMID:25741868 PMID:28492532

NCBI chr 8:69,997,021...70,064,886
Ensembl chr 8:69,997,145...70,064,825

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 5:28,566,604...28,727,416
Ensembl chr 5:28,388,664...28,727,334

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 chr16:20,810,735...20,859,441
Ensembl chr16:20,810,345...20,859,037

G

dynein 2 intermediate chain 2

ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 3

NCBI chr 9:54,930,039...54,953,752
Ensembl chr 9:54,930,054...54,953,751

G

dynein light chain Tctex-type 2B

ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 3

NCBI chr33:29,414,484...29,430,439

G

family with sequence similarity 98 member C

ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 3

NCBI chr 1:114,598,841...114,602,316
Ensembl chr 1:114,597,464...114,602,708

G

intraflagellar transport 80

OMIM:613091

NCBI chr34:26,332,456...26,455,428

G

kinesin family member 24

ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 3

NCBI chr11:50,974,376...51,049,862
Ensembl chr11:50,976,627...51,022,382

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 chr25:20,297,190...20,528,537
Ensembl chr25:20,299,079...20,518,483

G

transmembrane protein 256

ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 3

NCBI chr 5:32,336,588...32,337,703

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 chr36:11,009,362...11,086,586
Ensembl chr36:11,010,296...11,086,674

asphyxiating thoracic dystrophy 5

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

WD repeat domain 19

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

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

NCBI chr 3:73,115,560...73,213,823
Ensembl chr 3:73,137,250...73,221,512

atelosteogenesis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

solute carrier family 26 member 2

ClinVar Annotator: match by term: Atelosteogenesis

NCBI chr 4:59,068,601...59,090,803
Ensembl chr 4:59,074,008...59,078,892

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 chr20:32,394,755...32,533,440
Ensembl chr20:32,396,165...32,533,275

Atelosteogenesis Type 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

solute carrier family 26 member 2

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

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

NCBI chr 4:59,068,601...59,090,803
Ensembl chr 4:59,074,008...59,078,892

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 chr20:32,394,755...32,533,440
Ensembl chr20:32,396,165...32,533,275

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 chr 9:19,538,713...19,544,650
Ensembl chr 9:19,539,435...19,544,651

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 4:88,149,250...88,263,926
Ensembl chr 4:88,149,257...88,272,464

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 chr34:119,307...159,419
Ensembl chr34:122,274...159,394

autosomal dominant osteopetrosis 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

chloride voltage-gated channel K

ClinVar Annotator: match by term: Autosomal dominant osteopetrosis 1

NCBI chr 2:81,612,382...81,627,742

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 chr18:49,439,494...49,555,375
Ensembl chr18:49,439,483...49,516,396

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 6:39,331,100...39,356,477
Ensembl chr 6:39,331,170...39,364,991

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

autosomal recessive craniometaphyseal dysplasia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

gap junction protein alpha 1

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

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

NCBI chr 1:60,941,772...60,944,694
Ensembl chr 1:60,929,097...60,942,936

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 1:113,124,109...113,152,283
Ensembl chr 1:113,124,109...113,150,442

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 6:39,356,234...39,364,053
Ensembl chr 6:39,357,273...39,364,740

G

pleckstrin homology and RUN domain containing M1

ClinVar Annotator: match by term: Autosomal recessive osteopetrosis 1

PMID:35342016 PMID:36195244

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 chr18:49,784,480...49,794,361
Ensembl chr18:49,784,490...49,794,317

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 chr22:8,226,931...8,257,926
Ensembl chr22:8,227,555...8,258,645

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 chr29:31,959,225...31,975,309
Ensembl chr29:31,935,172...31,980,579

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 6:39,331,100...39,356,477
Ensembl chr 6:39,331,170...39,364,991

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 chr12:65,085,456...65,120,827
Ensembl chr12:65,087,243...65,120,832

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

autosomal recessive osteopetrosis 7

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

TNF receptor superfamily member 11a

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

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

NCBI chr 1:14,504,595...14,555,956
Ensembl chr 1:14,503,033...14,556,041

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 chr14:39,567,701...39,642,475
Ensembl chr14:39,567,471...39,640,872

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 chr16:15,111,078...15,126,618
Ensembl chr16:15,111,116...15,126,617

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 chr12:68,488,846...68,499,104
Ensembl chr12:68,478,905...68,498,049

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 chr31:38,183,181...38,192,739
Ensembl chr31:38,183,188...38,196,113

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 5:28,566,604...28,727,416
Ensembl chr 5:28,388,664...28,727,334

G

EvC ciliary complex subunit 2

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

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

NCBI chr 3:70,809,649...70,935,391
Ensembl chr 3:70,810,048...70,935,860

G

intraflagellar transport 80

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

PMID:28492532 PMID:29068549

NCBI chr34:26,332,456...26,455,428

G

NIMA related kinase 1

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

PMID:25741868 PMID:29068549

NCBI chr25:20,297,190...20,528,537
Ensembl chr25:20,299,079...20,518,483

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 chr36:11,009,362...11,086,586
Ensembl chr36:11,010,296...11,086,674

G

WD repeat domain 19

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

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

NCBI chr 3:73,115,560...73,213,823
Ensembl chr 3:73,137,250...73,221,512

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 chr16:45,230,095...45,233,411
Ensembl chr16:45,230,096...45,233,418

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 chr16:45,175,351...45,208,647
Ensembl chr16:45,192,032...45,207,964

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 chr16:45,208,741...45,230,041
Ensembl chr16:45,208,863...45,229,996

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 chr20:32,394,755...32,533,440
Ensembl chr20:32,396,165...32,533,275

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 chr18:51,653,783...51,667,793
Ensembl chr18:51,659,098...51,667,433

G

3'-phosphoadenosine 5'-phosphosulfate synthase 2

ClinVar Annotator: match by term: Brachyolmia

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

NCBI chr26:37,725,205...37,745,103
Ensembl chr26:37,725,616...37,743,928

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 chr26:17,293,334...17,330,156
Ensembl chr26:17,262,100...17,330,165

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 chr26:17,293,334...17,330,156
Ensembl chr26:17,262,100...17,330,165

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 chr26:17,293,334...17,330,156
Ensembl chr26:17,262,100...17,330,165

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 chr18:51,653,783...51,667,793
Ensembl chr18:51,659,098...51,667,433

G

SCY1 like pseudokinase 1

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

PMID:25741868 PMID:28492532

NCBI chr18:51,667,647...51,680,904
Ensembl chr18:51,667,790...51,681,090

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 chr20:43,454,025...43,532,361
Ensembl chr20:43,359,206...43,532,219

BRAIN ABNORMALITIES, NEURODEGENERATION, AND DYSOSTEOSCLEROSIS

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

colony stimulating factor 1 receptor

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

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

NCBI chr 4:58,980,699...59,010,683
Ensembl chr 4:58,980,788...59,010,510

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 1:114,461,350...114,579,577
Ensembl chr 1:114,461,348...114,579,493

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 chr 9:21,001,227...21,009,995
Ensembl chr 9:21,001,577...21,009,927

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 chr23:41,290,183...41,382,917
Ensembl chr23:41,290,567...41,382,807

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 chr14:19,883,731...19,919,527
Ensembl chr14:19,883,868...19,919,527

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 chr 9:21,001,227...21,009,995
Ensembl chr 9:21,001,577...21,009,927

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 chr23:41,290,183...41,382,917
Ensembl chr23:41,290,567...41,382,807

Buschke-Ollendorff syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

elastin

NCBI chr 6:6,299,524...6,331,425
Ensembl chr 6:6,300,727...6,331,325

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 chr10:7,775,995...7,833,895
Ensembl chr10:7,777,946...7,834,107

Caffey disease

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

alpha 1,4-galactosyltransferase

ClinVar Annotator: match by term: Infantile cortical hyperostosis

PMID:20971946 PMID:28492532

NCBI chr10:22,752,657...22,776,858
Ensembl chr10:22,774,834...22,776,069

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 chr 9:26,183,852...26,199,927
Ensembl chr 9:26,183,852...26,199,927

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 chr32:28,277,195...28,407,761
Ensembl chr32:28,354,116...28,403,734

G

structural maintenance of chromosomes 1A

ClinVar Annotator: match by term: CDL

NCBI chr X:45,099,312...45,148,103
Ensembl chr X:45,109,653...45,148,001

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 chr 9:16,468,938...16,475,722
Ensembl chr 9:16,468,938...16,475,722

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 chr 9:8,275,049...8,278,172
Ensembl chr 9:8,275,049...8,278,172

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 chr 9:8,275,049...8,278,172
Ensembl chr 9:8,275,049...8,278,172

Camurati-Engelmann disease

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

B9 domain containing 2

ClinVar Annotator: match by term: Diaphyseal dysplasia

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

NCBI chr 1:112,621,832...112,627,726
Ensembl chr 1:112,621,633...112,643,885

G

LDL receptor related protein 5

ClinVar Annotator: match by term: Diaphyseal dysplasia

NCBI chr18:49,439,494...49,555,375
Ensembl chr18:49,439,483...49,516,396

G

melanocyte inducing transcription factor

OMIM:131300 | OMIM:606631

NCBI chr20:21,772,147...21,873,545
Ensembl chr20:21,612,927...21,870,578

Carey-Fineman-Ziter syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

myomaker, myoblast fusion factor

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

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

NCBI chr 9:49,905,580...49,919,849
Ensembl chr 9:49,907,228...49,921,007

Carey-Fineman-Ziter Syndrome 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

myomaker, myoblast fusion factor

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

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

NCBI chr 9:49,905,580...49,919,849
Ensembl chr 9:49,907,228...49,921,007

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

NCBI chr12:12,626,482...12,630,058

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 chr11:52,194,412...52,196,817
Ensembl chr11:52,194,293...52,196,815

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 chr38:14,864,004...14,925,684
Ensembl chr38:14,863,998...14,925,635

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 chr19:45,022,450...45,150,977
Ensembl chr19:45,022,072...45,149,339

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 chr22:45,384,119...45,400,128
Ensembl chr22:45,384,412...45,400,314

cherubism

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

adducin 1

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 3:61,356,643...61,443,851
Ensembl chr 3:61,358,162...61,474,830

G

ATP synthase membrane subunit e

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr X:108,285,208...108,285,423

G

complexin 1

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 3:91,635,953...91,658,084
Ensembl chr 3:91,638,515...91,656,737

G

C-terminal binding protein 1

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 3:91,385,733...91,400,252
Ensembl chr 3:91,379,049...91,400,656

G

diacylglycerol kinase theta

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 3:91,544,350...91,554,494
Ensembl chr 3:91,544,219...91,554,565

G

docking protein 7

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 3:60,873,298...60,897,047
Ensembl chr 3:60,869,206...60,897,318

G

family with sequence similarity 193 member A

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 3:61,543,738...61,674,729
Ensembl chr 3:61,544,354...61,644,322

G

family with sequence similarity 53 member A

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 3:62,410,101...62,441,189
Ensembl chr 3:62,424,613...62,447,948

G

fibroblast growth factor receptor 3

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 3:62,309,128...62,318,932
Ensembl chr 3:62,303,756...62,323,896

G

fibroblast growth factor receptor like 1

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 3:91,499,088...91,508,982

G

cyclin G associated kinase

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 3:91,575,537...91,630,715
Ensembl chr 3:91,574,751...91,630,663

G

G protein-coupled receptor kinase 4

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 3:61,233,066...61,331,094
Ensembl chr 3:61,079,904...61,330,290

G

HAUS augmin like complex subunit 3

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 3:61,946,289...61,961,589
Ensembl chr 3:61,946,838...61,960,473

G

HGF activator

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 3:60,906,839...60,916,879
Ensembl chr 3:60,906,844...60,915,280

G

huntingtin

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 3:61,076,934...61,221,462
Ensembl chr 3:61,079,904...61,330,290

G

alpha-L-iduronidase

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 3:91,517,225...91,534,593
Ensembl chr 3:91,522,035...91,534,593

G

leucine zipper and EF-hand containing transmembrane protein 1

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 3:62,268,027...62,304,767
Ensembl chr 3:62,267,708...62,302,136

G

macrophage erythroblast attacher, E3 ubiquitin ligase

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 3:62,679,084...62,718,154
Ensembl chr 3:62,682,538...62,718,071

G

major facilitator superfamily domain containing 10

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 3:61,352,047...61,357,393
Ensembl chr 3:61,352,109...61,355,997

G

Myb/SANT DNA binding domain containing 1

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 3:61,058,993...61,076,816
Ensembl chr 3:61,064,335...61,075,072

G

MAX dimerization protein 4

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 3:61,927,722...61,941,780
Ensembl chr 3:61,927,816...61,938,638

G

myosin light chain 5

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 3:91,738,518...91,743,619
Ensembl chr 3:91,738,523...91,744,297

G

N-acetyltransferase 8 like

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 3:62,107,060...62,113,807
Ensembl chr 3:62,108,003...62,113,737

G

negative elongation factor complex member A

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 3:62,147,948...62,164,039
Ensembl chr 3:62,147,948...62,164,112

G

NELL2 interacting cell ontogeny regulator 1

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 3:62,119,568...62,121,981

G

NK1 homeobox 1

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 3:62,634,654...62,638,111
Ensembl chr 3:62,634,783...62,638,111

G

NOP14 nucleolar protein

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 3:61,330,987...61,350,596
Ensembl chr 3:61,330,981...61,350,596

G

nuclear receptor binding SET domain protein 2

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 3:62,164,888...62,228,006
Ensembl chr 3:62,167,939...62,228,035

G

polycomb group ring finger 3

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 3:91,673,424...91,708,751
Ensembl chr 3:91,676,496...91,708,754

G

phosphodiesterase 6B

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 3:91,746,571...91,775,372
Ensembl chr 3:91,746,571...91,775,372

G

phosphatidylinositol glycan anchor biosynthesis class G

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 3:91,811,681...91,849,530
Ensembl chr 3:91,812,875...91,849,446

G

DNA polymerase nu

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 3:61,946,295...62,104,112
Ensembl chr 3:61,962,193...62,102,264

G

regulator of G protein signaling 12

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 3:60,917,033...61,011,812
Ensembl chr 3:60,917,072...61,009,131

G

Ras like without CAAX 1

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 7:41,894,726...41,903,450
Ensembl chr 7:41,895,330...41,901,173

G

ring finger protein 212

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 3:91,453,856...91,483,674
Ensembl chr 3:91,453,367...91,474,547

G

ring finger protein 4

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 3:61,721,752...61,759,797
Ensembl chr 3:61,723,124...61,759,730

G

SH3 domain binding protein 2

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

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

NCBI chr 3:61,454,945...61,488,951
Ensembl chr 3:61,358,162...61,474,830

G

stem-loop histone mRNA binding protein

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 3:62,386,982...62,401,541
Ensembl chr 3:62,386,977...62,400,891

G

solute carrier family 26 member 1

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 3:91,528,045...91,534,104
Ensembl chr 3:91,485,270...91,534,115

G

solute carrier family 49 member 3

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 3:91,732,589...91,738,161
Ensembl chr 3:91,731,437...91,737,753

G

spondin 2

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 3:91,411,245...91,421,245

G

transforming acidic coiled-coil containing protein 3

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 3:62,368,641...62,380,898
Ensembl chr 3:62,368,642...62,381,024

G

transmembrane protein 129, E3 ubiquitin ligase

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 3:62,381,240...62,386,381
Ensembl chr 3:62,381,411...62,385,349

G

transmembrane protein 175

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 3:91,554,001...91,576,845
Ensembl chr 3:91,553,778...91,670,930

G

TNFAIP3 interacting protein 2

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 3:61,511,676...61,535,480

G

UV stimulated scaffold protein A

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 3:62,647,992...62,674,830
Ensembl chr 3:62,649,207...62,674,884

G

zinc finger FYVE-type containing 28

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 3:61,786,160...61,919,668
Ensembl chr 3:61,805,284...61,918,602

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 1:112,117,338...112,124,464
Ensembl chr 1:112,117,141...112,124,077

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 chr20:41,941,617...41,947,085
Ensembl chr20:41,933,105...42,073,779

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 chr20:41,905,265...41,924,712
Ensembl chr20:41,905,273...41,925,794

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:1,536,341...1,558,782

G

porcupine O-acyltransferase

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

PMID:10391218 PMID:18176751

NCBI chr X:41,774,857...41,779,474
Ensembl chr X:41,762,692...41,779,476

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 chr29:8,176,977...8,215,561
Ensembl chr29:8,182,508...8,215,868

chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

histone deacetylase 6

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

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

NCBI chr X:42,004,268...42,024,726
Ensembl chr X:42,004,591...42,024,427

chondrodysplasia-pseudohermaphroditism syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

hedgehog acyltransferase

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

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

NCBI chr 7:8,949,743...9,244,746
Ensembl chr 7:8,949,743...9,275,101

cleidocranial dysplasia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

angiotensinogen

ClinVar Annotator: match by term: Large fontanelles

PMID:25741868 PMID:35005812

NCBI chr 4:8,681,192...8,694,059
Ensembl chr 4:8,683,798...8,693,880

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 chr12:13,723,535...13,842,565
Ensembl chr12:13,628,539...13,840,785
Ensembl chr12:13,628,539...13,840,785

G

SPT3 homolog, SAGA and STAGA complex component

ClinVar Annotator: match by term: Cleidocranial dysostosis

NCBI chr12:13,083,084...13,684,090
Ensembl chr12:13,154,955...13,670,397

G

T-box transcription factor 1

NCBI chr26:29,529,071...29,533,240
Ensembl chr26:29,528,878...29,532,784

Cleidocranial Dysplasia 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

core-binding factor subunit beta

ClinVar Annotator: match by term: Cleidocranial dysplasia 2

PMID:25741868 PMID:36241386

NCBI chr 5:82,253,496...82,313,765
Ensembl chr 5:82,255,617...82,313,168

CODAS syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

lon peptidase 1, mitochondrial

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

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

NCBI chr20:54,312,678...54,334,142
Ensembl chr20:54,312,678...54,334,141

Cole-Carpenter syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

prolyl 4-hydroxylase subunit beta

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

PMID:25741868 PMID:28492532

NCBI chr 9:427,827...436,880
Ensembl chr 9:427,830...436,064

G

SEC24 homolog D, COPII coat complex component

CTD Direct Evidence: marker/mechanism

NCBI chr32:37,690,158...37,795,762
Ensembl chr32:37,690,399...37,924,252

Cole-Carpenter Syndrome 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

prolyl 4-hydroxylase subunit beta

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

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

NCBI chr 9:427,827...436,880
Ensembl chr 9:427,830...436,064

Cole-Carpenter Syndrome 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

SEC24 homolog D, COPII coat complex component

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

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

NCBI chr32:37,690,158...37,795,762
Ensembl chr32:37,690,399...37,924,252

Collagenopathy, Type 2 Alpha 1

term browser