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 (890)

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 chr14:34,542,132...34,549,286
Ensembl chr14:52,821,872...52,828,752

G

collagen type XI alpha 2 chain

CTD Direct Evidence: marker/mechanism

NCBI chr 6:32,734,950...32,765,837
Ensembl chr 6:33,849,885...33,879,635

G

collagen type II alpha 1 chain

CTD Direct Evidence: marker/mechanism

NCBI chr12:40,726,137...40,757,690

G

endothelin 1

CTD Direct Evidence: marker/mechanism

NCBI chr 6:12,076,312...12,142,861
Ensembl chr 6:12,462,718...12,503,545

G

fibroblast growth factor 14

CTD Direct Evidence: marker/mechanism

NCBI chr13:82,869,491...83,563,099
Ensembl chr13:102,016,568...102,696,330

G

GATA binding protein 2

CTD Direct Evidence: marker/mechanism

NCBI chr 3:125,526,537...125,535,649
Ensembl chr 3:132,890,508...132,899,035

G

metallothionein-2

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

NCBI chr16:36,894,853...36,895,826
Ensembl chr16:56,007,922...56,028,093

G

matrix metallopeptidase 3

mRNA:increased expression:articular cartilage

NCBI chr11:97,776,729...97,784,549
Ensembl chr11:101,267,566...101,275,354

G

natriuretic peptide C

CTD Direct Evidence: marker/mechanism

NCBI chr2B:119,148,774...119,153,381
Ensembl chr2B:237,936,939...237,941,244

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 chr 7:148,301,263...148,512,407
Ensembl chr 7:159,999,389...160,152,858

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 5:145,385,433...145,412,180
Ensembl chr 5:151,391,842...151,412,676

G

thyroid hormone receptor interactor 11

ClinVar Annotator: match by term: Achondrogenesis

NCBI chr14:72,601,649...72,675,784
Ensembl chr14:91,945,392...92,019,231

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 chr14:74,566,607...74,608,905
Ensembl chr14:93,900,914...93,930,527

G

ataxin 3

ClinVar Annotator: match by term: Achondrogenesis, type IA

NCBI chr14:72,693,446...72,741,772

G

BTB domain containing 7

ClinVar Annotator: match by term: Achondrogenesis, type IA

NCBI chr14:73,870,163...73,965,819
Ensembl chr14:93,211,207...93,264,835

G

calmodulin 1

ClinVar Annotator: match by term: Achondrogenesis, type IA

NCBI chr14:71,015,099...71,026,322
Ensembl chr19:52,121,687...52,131,135

G

cation channel sperm associated auxiliary subunit beta

ClinVar Annotator: match by term: Achondrogenesis, type IA

NCBI chr14:72,203,805...72,357,311
Ensembl chr14:91,550,690...91,699,419

G

coiled-coil domain containing 88C

ClinVar Annotator: match by term: Achondrogenesis, type IA

NCBI chr14:71,897,602...72,044,242
Ensembl chr14:91,244,434...91,393,715

G

chromogranin A

ClinVar Annotator: match by term: Achondrogenesis, type IA

NCBI chr14:73,555,834...73,568,547
Ensembl chr14:92,895,450...92,908,159

G

cleavage and polyadenylation specific factor 2

ClinVar Annotator: match by term: Achondrogenesis, type IA

NCBI chr14:72,757,419...72,801,149
Ensembl chr14:92,099,301...92,140,470

G

DEAD-box helicase 24

ClinVar Annotator: match by term: Achondrogenesis, type IA

NCBI chr14:74,683,068...74,713,394
Ensembl chr14:94,016,438...94,046,635

G

D-glutamate cyclase

ClinVar Annotator: match by term: Achondrogenesis, type IA

NCBI chr14:71,678,891...71,851,806
Ensembl chr14:91,089,132...91,199,043

G

family with sequence similarity 181 member A

ClinVar Annotator: match by term: Achondrogenesis, type IA

NCBI chr14:74,549,016...74,562,068
Ensembl chr14:93,891,392...93,895,892

G

fibulin 5

ClinVar Annotator: match by term: Achondrogenesis, type IA

NCBI chr14:72,504,240...72,583,160
Ensembl chr14:91,848,430...91,927,304

G

golgin A5

ClinVar Annotator: match by term: Achondrogenesis, type IA

NCBI chr14:73,430,700...73,475,979
Ensembl chr14:92,770,342...92,815,444

G

GON7 subunit of KEOPS complex

ClinVar Annotator: match by term: Achondrogenesis, type IA

NCBI chr14:73,835,545...73,839,756
Ensembl chr14:93,171,999...93,176,201

G

G protein-coupled receptor 68

ClinVar Annotator: match by term: Achondrogenesis, type IA

NCBI chr14:71,859,025...71,891,126
Ensembl chr14:91,207,679...91,208,806

G

interferon alpha inducible protein 27

ClinVar Annotator: match by term: Achondrogenesis, type IA

NCBI chr14:74,742,775...74,748,820
Ensembl chr14:94,046,694...94,082,022

G

interferon alpha inducible protein 27 like 1

ClinVar Annotator: match by term: Achondrogenesis, type IA

NCBI chr14:74,713,459...74,734,835

G

interferon alpha inducible protein 27 like 2

ClinVar Annotator: match by term: Achondrogenesis, type IA

NCBI chr14:74,759,874...74,761,850

G

inositol-tetrakisphosphate 1-kinase

ClinVar Annotator: match by term: Achondrogenesis, type IA

NCBI chr14:73,573,020...73,750,109
Ensembl chr14:92,909,785...93,087,773

G

potassium two pore domain channel subfamily K member 13

ClinVar Annotator: match by term: Achondrogenesis, type IA

NCBI chr14:70,678,256...70,803,575
Ensembl chr14:90,032,219...90,154,687

G

legumain

ClinVar Annotator: match by term: Achondrogenesis, type IA

NCBI chr14:73,337,607...73,383,462
Ensembl chr14:92,677,608...92,723,051

G

cytochrome c oxidase subunit 8C, mitochondrial

ClinVar Annotator: match by term: Achondrogenesis, type IA

NCBI chr14:73,979,629...73,984,116
Ensembl chr14:93,316,013...93,317,217

G

lysosomal enzyme trafficking factor

ClinVar Annotator: match by term: Achondrogenesis, type IA

NCBI chr14:73,817,605...73,819,747
Ensembl chr14:93,154,232...93,156,065

G

modulator of apoptosis 1

ClinVar Annotator: match by term: Achondrogenesis, type IA

NCBI chr14:73,814,859...73,817,607
Ensembl chr14:93,152,551...93,153,606

G

NADH:ubiquinone oxidoreductase subunit B1

ClinVar Annotator: match by term: Achondrogenesis, type IA

NCBI chr14:72,751,276...72,757,264
Ensembl chr14:92,093,381...92,099,244

G

NRDE-2, necessary for RNA interference, domain containing

ClinVar Annotator: match by term: Achondrogenesis, type IA

NCBI chr14:70,895,376...70,949,969
Ensembl chr14:90,247,035...90,300,705

G

OTU deubiquitinase, ubiquitin aldehyde binding 2

ClinVar Annotator: match by term: Achondrogenesis, type IA

NCBI chr14:74,658,535...74,681,084
Ensembl chr14:93,991,913...94,015,157

G

protein phosphatase 4 regulatory subunit 3A

ClinVar Annotator: match by term: Achondrogenesis, type IA

NCBI chr14:72,083,948...72,137,158

G

protein phosphatase 4 regulatory subunit 4

ClinVar Annotator: match by term: Achondrogenesis, type IA

NCBI chr14:74,806,877...74,912,209
Ensembl chr14:94,139,654...94,244,712

G

proline rich membrane anchor 1

ClinVar Annotator: match by term: Achondrogenesis, type IA

NCBI chr14:74,351,140...74,422,033
Ensembl chr14:93,685,784...93,756,139

G

proteasome 26S subunit, ATPase 1

ClinVar Annotator: match by term: Achondrogenesis, type IA

NCBI chr14:70,873,846...70,889,988
Ensembl chr14:90,225,405...90,241,641

G

Ras and Rab interactor 3

ClinVar Annotator: match by term: Achondrogenesis, type IA

NCBI chr14:73,148,000...73,322,798
Ensembl chr14:92,488,770...92,662,415

G

ribosomal protein S6 kinase A5

ClinVar Annotator: match by term: Achondrogenesis, type IA

NCBI chr14:71,489,654...71,679,250
Ensembl chr14:90,840,655...91,028,780

G

serpin family A member 1

ClinVar Annotator: match by term: Achondrogenesis, type IA

NCBI chr14:75,001,714...75,014,214
Ensembl chr14:94,334,258...94,345,419

G

serpin family A member 10

ClinVar Annotator: match by term: Achondrogenesis, type IA

NCBI chr14:74,914,680...74,927,325
Ensembl chr14:94,248,362...94,257,835

G

serpin family A member 6

ClinVar Annotator: match by term: Achondrogenesis, type IA

NCBI chr14:74,936,724...74,955,799
Ensembl chr14:94,269,299...94,288,391

G

solute carrier family 24 member 4

ClinVar Annotator: match by term: Achondrogenesis, type IA

NCBI chr14:72,956,230...73,128,851
Ensembl chr14:92,299,507...92,468,939

G

tandem C2 domains, nuclear

ClinVar Annotator: match by term: Achondrogenesis, type IA

NCBI chr14:72,404,915...72,471,347
Ensembl chr14:91,750,265...91,815,703

G

tyrosyl-DNA phosphodiesterase 1

ClinVar Annotator: match by term: Achondrogenesis, type IA

NCBI chr14:70,574,066...70,662,562
Ensembl chr14:89,926,462...90,014,802

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 chr14:72,601,649...72,675,784
Ensembl chr14:91,945,392...92,019,231

G

tetratricopeptide repeat domain 7B

ClinVar Annotator: match by term: Achondrogenesis, type IA

NCBI chr14:71,158,480...71,433,819
Ensembl chr14:90,509,829...90,759,714

G

ubiquitin protein ligase E3 component n-recognin 7

ClinVar Annotator: match by term: Achondrogenesis, type IA

NCBI chr14:73,839,702...73,861,830
Ensembl chr14:93,176,149...93,198,150

G

unc-79 homolog, NALCN channel complex subunit

ClinVar Annotator: match by term: Achondrogenesis, type IA

NCBI chr14:73,965,908...74,340,573
Ensembl chr14:93,399,547...93,674,248

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 5:145,385,433...145,412,180
Ensembl chr 5:151,391,842...151,412,676

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 chr12:40,726,137...40,757,690

achondroplasia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

aggrecan

OMIM:100800

NCBI chr15:67,492,494...67,563,265
Ensembl chr15:86,733,853...86,771,420

G

fibrillin 1

ClinVar Annotator: match by term: Achondroplasia

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

NCBI chr15:27,358,780...27,593,539
Ensembl chr15:45,682,450...45,918,111

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 4:1,933,172...1,948,742
Ensembl chr 4:1,843,774...1,861,692

G

natriuretic peptide C

OMIM:100800

NCBI chr2B:119,148,774...119,153,381
Ensembl chr2B:237,936,939...237,941,244

G

natriuretic peptide receptor 2

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

NCBI chr 9:35,642,534...35,660,210
Ensembl chr 9:36,445,576...36,462,637

G

parathyroid hormone like hormone

OMIM:100800

NCBI chr12:58,341,361...58,355,804
Ensembl chr12:60,960,071...60,973,750

G

sprouty related EVH1 domain containing 2

OMIM:100800

NCBI chr2A:65,380,608...65,503,139
Ensembl chr2A:66,503,260...66,624,840

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 4:1,933,172...1,948,742
Ensembl chr 4:1,843,774...1,861,692

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 chr2B:106,312,472...106,319,124
Ensembl chr2B:224,906,271...224,911,506

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 chr17:62,474,317...62,537,800
Ensembl chr17:67,864,331...67,927,128

G

phosphodiesterase 4D

ClinVar Annotator: match by term: Acrodysostosis

PMID:25741868 PMID:28492532

NCBI chr 5:53,510,287...55,039,181
Ensembl chr 5:55,749,214...56,670,111

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 chr17:62,448,718...62,488,493
Ensembl chr17:67,838,484...67,877,943

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 chr17:62,448,718...62,488,493
Ensembl chr17:67,838,484...67,877,943

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 5:53,300,423...53,406,947
Ensembl chr 5:54,951,596...55,045,820

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 5:53,510,287...55,039,181
Ensembl chr 5:55,749,214...56,670,111

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 chr20:31,761,199...31,766,229
Ensembl chr20:32,882,094...32,886,899

G

natriuretic peptide receptor 2

ClinVar Annotator: match by term: Acromesomelic dysplasia

NCBI chr 9:35,642,534...35,660,210
Ensembl chr 9:36,445,576...36,462,637

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 chr20:31,761,199...31,766,229
Ensembl chr20:32,882,094...32,886,899

acromesomelic dysplasia, Hunter-Thompson type

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

bone morphogenetic protein receptor type 1B

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

NCBI chr 4:87,125,911...87,523,084
Ensembl chr 4:98,088,072...98,195,848

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 chr20:31,761,199...31,766,229
Ensembl chr20:32,882,094...32,886,899

acromesomelic dysplasia, Maroteaux type

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ankyrin repeat domain 18B

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

NCBI chr 9:33,305,062...33,383,152

G

aprataxin

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

NCBI chr 9:32,747,409...32,819,270
Ensembl chr 9:33,556,419...33,585,060

G

aquaporin 3 (Gill blood group)

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

NCBI chr 9:33,221,989...33,228,469
Ensembl chr 9:34,032,983...34,039,438

G

aquaporin 7

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

NCBI chr 9:33,160,982...33,180,638

G

Rho guanine nucleotide exchange factor 39

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

NCBI chr 9:35,510,876...35,517,299
Ensembl chr 9:36,313,296...36,319,732

G

AT-rich interaction domain 3C

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

NCBI chr 9:34,457,638...34,466,425
Ensembl chr 9:35,267,063...35,275,057

G

atos homolog B

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

NCBI chr 9:34,954,618...34,966,860
Ensembl chr 9:35,760,019...35,771,911

G

beta-1,4-galactosyltransferase 1

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

NCBI chr 9:32,889,124...32,945,759
Ensembl chr 9:33,691,733...33,754,192

G

BAG cochaperone 1

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

NCBI chr 9:33,033,267...33,043,013
Ensembl chr 9:33,841,449...33,851,167

G

carbonic anhydrase 9

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

NCBI chr 9:35,525,877...35,533,159
Ensembl chr 9:36,328,303...36,335,340

G

coiled-coil domain containing 107

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

NCBI chr 9:35,510,289...35,513,195
Ensembl chr 9:36,312,688...36,315,926

G

calicin

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

NCBI chr 9:36,014,394...36,021,056
Ensembl chr 9:36,820,373...36,822,139

G

C-C motif chemokine ligand 19

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

NCBI chr 9:34,525,820...34,527,628
Ensembl chr 9:35,334,353...35,336,108

G

C-C motif chemokine ligand 21

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

NCBI chr 9:34,545,248...34,546,801
Ensembl chr 9:35,353,768...35,354,924

G

C-C motif chemokine ligand 27

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

NCBI chr 9:34,498,478...34,501,475
Ensembl chr 9:35,307,175...35,308,146

G

CD72 molecule

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

NCBI chr 9:35,461,685...35,470,578
Ensembl chr 9:36,264,500...36,273,326

G

charged multivesicular body protein 5

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

NCBI chr 9:33,043,148...33,059,564
Ensembl chr 9:33,851,377...33,867,942

G

ciliary microtubule inner protein 2B

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

NCBI chr 9:35,411,930...35,442,971
Ensembl chr 9:36,216,030...36,260,042

G

clathrin light chain A

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

NCBI chr 9:36,040,566...36,061,744
Ensembl chr 9:36,840,868...36,862,528

G

ciliary neurotrophic factor receptor

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

NCBI chr 9:34,387,929...34,426,907
Ensembl chr 9:35,197,474...35,214,977

G

cAMP responsive element binding protein 3

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

NCBI chr 9:35,583,351...35,587,870
Ensembl chr 9:36,385,867...36,390,540

G

DDB1 and CUL4 associated factor 12

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

NCBI chr 9:33,923,900...33,964,443
Ensembl chr 9:34,733,845...34,775,624

G

dynactin subunit 3

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

NCBI chr 9:34,450,134...34,457,112
Ensembl chr 9:35,259,561...35,266,533

G

dynein axonemal intermediate chain 1

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

NCBI chr 9:34,295,010...34,357,331
Ensembl chr 9:35,104,297...35,167,454

G

DnaJ heat shock protein family (Hsp40) member A1

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

NCBI chr 9:32,800,077...32,814,745
Ensembl chr 9:33,608,502...33,622,275

G

DnaJ heat shock protein family (Hsp40) member B5

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

NCBI chr 9:34,836,691...34,845,471
Ensembl chr 9:35,643,056...35,651,879

G

energy homeostasis associated

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

NCBI chr 9:34,357,384...34,359,369
Ensembl chr 9:35,167,934...35,168,164

G

exosome component 3

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

NCBI chr 9:37,611,173...37,634,869
Ensembl chr 9:38,552,659...38,558,078

G

family with sequence similarity 219 member A

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

NCBI chr 9:34,234,499...34,294,823
Ensembl chr 9:35,043,472...35,103,920

G

family with sequence similarity 221 member B

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

NCBI chr 9:35,668,180...35,679,557
Ensembl chr 9:36,471,284...36,479,018

G

FA complementation group G

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

NCBI chr 9:34,924,399...34,931,077
Ensembl chr 9:35,730,176...35,736,648

G

F-box protein 10

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

NCBI chr 9:37,355,861...37,421,321
Ensembl chr 9:38,279,653...38,345,040

G

FERM and PDZ domain containing 1

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

NCBI chr 9:37,497,210...37,595,867
Ensembl chr 9:38,421,706...38,519,025

G

galactose-1-phosphate uridylyltransferase

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

G

glucosylceramidase beta 2

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

NCBI chr 9:35,587,876...35,599,971
Ensembl chr 9:36,390,409...36,402,949

G

GLI pathogenesis related 2

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

NCBI chr 9:35,986,341...36,013,662
Ensembl chr 9:36,787,649...36,814,812

G

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

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

NCBI chr 9:36,064,128...36,107,822
Ensembl chr 9:36,867,096...36,926,588

G

glyoxylate and hydroxypyruvate reductase

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

NCBI chr 9:37,267,918...37,282,253
Ensembl chr 9:38,192,149...38,206,478

G

histidine triad nucleotide binding protein 2

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

NCBI chr 9:35,663,433...35,666,479
Ensembl chr 9:36,465,806...36,468,325

G

histidine rich carboxyl terminus 1

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

NCBI chr 9:35,760,064...35,762,224
Ensembl chr 9:36,559,012...36,559,362

G

interleukin 11 receptor subunit alpha

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

NCBI chr 9:34,487,313...34,498,477

G

kinesin family member 24

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

NCBI chr 9:34,088,760...34,165,306
Ensembl chr 9:34,898,729...34,973,978

G

olfactory receptor 13J1

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

NCBI chr 9:35,718,990...35,722,649

G

maternal embryonic leucine zipper kinase

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

NCBI chr 9:36,419,974...36,522,584
Ensembl chr 9:37,219,170...37,321,318

G

microseminoprotein, prostate associated

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

NCBI chr 9:35,603,948...35,605,085
Ensembl chr 9:36,406,679...36,407,845

G

myogenesis regulating glycosidase (putative)

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

NCBI chr 9:34,205,177...34,213,351
Ensembl chr 9:35,015,847...35,017,991

G

NADH:ubiquinone oxidoreductase subunit B6

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

NCBI chr 9:32,327,973...32,347,518
Ensembl chr 9:33,137,836...33,157,006

G

nuclear transcription factor, X-box binding 1

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

NCBI chr 9:33,068,235...33,149,271
Ensembl chr 9:33,876,836...33,959,924

G

nucleolar protein 6

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

NCBI chr 9:33,242,163...33,291,503
Ensembl chr 9:34,053,100...34,100,854

G

natriuretic peptide receptor 2

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

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

NCBI chr 9:35,642,534...35,660,210
Ensembl chr 9:36,445,576...36,462,637

G

nudix hydrolase 2

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

NCBI chr 9:34,165,452...34,179,722
Ensembl chr 9:34,974,240...34,988,453

G

paired box 5

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

NCBI chr 9:36,677,369...36,876,678
Ensembl chr 9:37,474,267...37,673,684

G

PHD finger protein 24

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

NCBI chr 9:34,735,800...34,829,555
Ensembl chr 9:35,611,517...35,635,964

G

phosphatidylinositol glycan anchor biosynthesis class O

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

NCBI chr 9:34,939,258...34,947,167
Ensembl chr 9:35,744,664...35,752,522

G

RNA polymerase I subunit E

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

NCBI chr 9:37,331,149...37,348,652
Ensembl chr 9:38,255,067...38,272,498

G

serine protease 3

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

NCBI chr 9:33,589,522...33,637,991
Ensembl chr 9:34,401,323...34,449,666

G

reversion inducing cysteine rich protein with kazal motifs

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

NCBI chr 9:35,886,741...35,974,133
Ensembl chr 9:36,699,631...36,774,116

G

RGP1 homolog, RAB6A GEF complex partner 1

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

NCBI chr 9:35,600,213...35,641,371
Ensembl chr 9:36,403,447...36,411,420

G

RNA sensor RIG-I

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

NCBI chr 9:32,230,012...32,302,159
Ensembl chr 9:33,040,000...33,110,557

G

ring finger protein 38

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

NCBI chr 9:36,185,284...36,335,915
Ensembl chr 9:36,985,433...37,048,013

G

ribonuclease P/MRP subunit p25 like

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

NCBI chr 9:34,447,073...34,448,762
Ensembl chr 9:35,256,822...35,257,313

G

RUN and SH3 domain containing 2

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

NCBI chr 9:35,339,146...35,411,989
Ensembl chr 9:36,200,865...36,215,582

G

sigma non-opioid intracellular receptor 1

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

NCBI chr 9:34,471,362...34,474,459

G

signaling threshold regulating transmembrane adaptor 1

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

NCBI chr 9:35,501,346...35,502,992
Ensembl chr 9:36,303,675...36,305,328

G

SMU1 DNA replication regulator and spliceosomal factor

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

NCBI chr 9:32,819,539...32,851,273
Ensembl chr 9:33,628,027...33,659,539

G

sperm associated antigen 8

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

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

NCBI chr 9:35,658,541...35,662,920
Ensembl chr 9:36,460,951...36,465,112

G

SPATA31 subfamily F member 1

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

NCBI chr 9:34,674,545...34,680,875

G

SPATA31 subfamily G member 1

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

NCBI chr 9:34,892,418...34,896,577
Ensembl chr 9:35,697,549...35,702,395

G

serine peptidase inhibitor Kazal type 4

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

G

sperm microtubule inner protein 6

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

NCBI chr 9:34,215,298...34,234,358
Ensembl chr 9:35,024,088...35,043,323

G

stomatin like 2

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

NCBI chr 9:34,950,387...34,953,707
Ensembl chr 9:35,755,790...35,759,091

G

TATA-box binding protein associated factor 1 like

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

NCBI chr 9:32,403,835...32,409,767
Ensembl chr 9:33,216,048...33,221,525

G

testis associated actin remodelling kinase 1

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

NCBI chr 9:35,456,965...35,461,736
Ensembl chr 9:36,258,902...36,264,545

G

talin 1

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

NCBI chr 9:35,549,328...35,583,376
Ensembl chr 9:36,351,836...36,379,228

G

transmembrane protein 215

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

NCBI chr 9:32,557,141...32,563,166
Ensembl chr 9:33,369,459...33,370,166

G

transmembrane protein 8B

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

NCBI chr 9:35,679,698...35,704,945
Ensembl chr 9:36,482,289...36,507,300

G

translocase of outer mitochondrial membrane 5

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

NCBI chr 9:37,433,186...37,437,397
Ensembl chr 9:38,357,617...38,361,267

G

TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase

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

NCBI chr 9:32,314,850...32,327,067
Ensembl chr 9:33,124,730...33,135,129

G

tropomyosin 2

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

NCBI chr 9:35,533,982...35,542,033
Ensembl chr 9:36,336,307...36,345,394

G

tRNA methyltransferase 10B

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

NCBI chr 9:37,602,757...37,628,693
Ensembl chr 9:38,526,496...38,551,902

G

ubiquitin associated protein 1

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

NCBI chr 9:34,015,077...34,088,908
Ensembl chr 9:34,825,825...34,898,868

G

ubiquitin associated protein 2

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

NCBI chr 9:33,759,877...33,887,146
Ensembl chr 9:34,570,883...34,697,752

G

ubiquitin conjugating enzyme E2 R2

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

NCBI chr 9:33,655,690...33,758,587

G

unc-13 homolog B

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

NCBI chr 9:35,011,350...35,255,148
Ensembl chr 9:35,817,353...36,059,894

G

valosin containing protein

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

NCBI chr 9:34,907,147...34,923,227
Ensembl chr 9:35,712,937...35,729,588

G

zinc finger and BTB domain containing 5

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

NCBI chr 9:37,282,824...37,310,710
Ensembl chr 9:38,209,979...38,212,012

G

zinc finger CCHC-type containing 7

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

NCBI chr 9:36,962,689...37,201,092

acromesomelic dysplasia-3

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

bone morphogenetic protein receptor type 1B

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

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

NCBI chr 4:87,125,911...87,523,084
Ensembl chr 4:98,088,072...98,195,848

acromesomelic dysplasia-4

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

protein kinase cGMP-dependent 2

ClinVar Annotator: match by term: Acromesomelic dysplasia 4

PMID:25741868 PMID:33106379 PMID:34782440

NCBI chr 4:42,987,217...43,114,993
Ensembl chr 4:48,836,953...48,960,383

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 9:104,658,540...104,698,854
Ensembl chr 9:133,269,369...133,309,602

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 chr15:27,358,780...27,593,539
Ensembl chr15:45,682,450...45,918,111

G

SMAD family member 2

CTD Direct Evidence: marker/mechanism

NCBI chr18:41,213,001...41,309,902
Ensembl chr18:44,580,905...44,668,530

G

transforming growth factor beta 1

CTD Direct Evidence: marker/mechanism

NCBI chr19:38,324,009...38,347,003
Ensembl chr19:46,831,659...46,852,973

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 1:200,865,602...200,892,199
Ensembl chr 1:205,870,394...205,893,032

anauxetic dysplasia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

Rho guanine nucleotide exchange factor 39

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr 9:35,510,876...35,517,299
Ensembl chr 9:36,313,296...36,319,732

G

AT-rich interaction domain 3C

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr 9:34,457,638...34,466,425
Ensembl chr 9:35,267,063...35,275,057

G

atos homolog B

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr 9:34,954,618...34,966,860
Ensembl chr 9:35,760,019...35,771,911

G

carbonic anhydrase 9

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr 9:35,525,877...35,533,159
Ensembl chr 9:36,328,303...36,335,340

G

coiled-coil domain containing 107

ClinVar Annotator: match by term: Anauxetic dysplasia

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

NCBI chr 9:35,510,289...35,513,195
Ensembl chr 9:36,312,688...36,315,926

G

calicin

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr 9:36,014,394...36,021,056
Ensembl chr 9:36,820,373...36,822,139

G

C-C motif chemokine ligand 19

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr 9:34,525,820...34,527,628
Ensembl chr 9:35,334,353...35,336,108

G

C-C motif chemokine ligand 21

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr 9:34,545,248...34,546,801
Ensembl chr 9:35,353,768...35,354,924

G

C-C motif chemokine ligand 27

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr 9:34,498,478...34,501,475
Ensembl chr 9:35,307,175...35,308,146

G

CD72 molecule

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr 9:35,461,685...35,470,578
Ensembl chr 9:36,264,500...36,273,326

G

ciliary microtubule inner protein 2B

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr 9:35,411,930...35,442,971
Ensembl chr 9:36,216,030...36,260,042

G

clathrin light chain A

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr 9:36,040,566...36,061,744
Ensembl chr 9:36,840,868...36,862,528

G

ciliary neurotrophic factor receptor

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr 9:34,387,929...34,426,907
Ensembl chr 9:35,197,474...35,214,977

G

cAMP responsive element binding protein 3

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr 9:35,583,351...35,587,870
Ensembl chr 9:36,385,867...36,390,540

G

dynactin subunit 3

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr 9:34,450,134...34,457,112
Ensembl chr 9:35,259,561...35,266,533

G

dynein axonemal intermediate chain 1

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr 9:34,295,010...34,357,331
Ensembl chr 9:35,104,297...35,167,454

G

DnaJ heat shock protein family (Hsp40) member B5

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr 9:34,836,691...34,845,471
Ensembl chr 9:35,643,056...35,651,879

G

energy homeostasis associated

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr 9:34,357,384...34,359,369
Ensembl chr 9:35,167,934...35,168,164

G

family with sequence similarity 219 member A

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr 9:34,234,499...34,294,823
Ensembl chr 9:35,043,472...35,103,920

G

family with sequence similarity 221 member B

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr 9:35,668,180...35,679,557
Ensembl chr 9:36,471,284...36,479,018

G

FA complementation group G

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr 9:34,924,399...34,931,077
Ensembl chr 9:35,730,176...35,736,648

G

galactose-1-phosphate uridylyltransferase

ClinVar Annotator: match by term: Anauxetic dysplasia

G

glucosylceramidase beta 2

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr 9:35,587,876...35,599,971
Ensembl chr 9:36,390,409...36,402,949

G

GLI pathogenesis related 2

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr 9:35,986,341...36,013,662
Ensembl chr 9:36,787,649...36,814,812

G

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

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr 9:36,064,128...36,107,822
Ensembl chr 9:36,867,096...36,926,588

G

histidine triad nucleotide binding protein 2

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr 9:35,663,433...35,666,479
Ensembl chr 9:36,465,806...36,468,325

G

histidine rich carboxyl terminus 1

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr 9:35,760,064...35,762,224
Ensembl chr 9:36,559,012...36,559,362

G

interleukin 11 receptor subunit alpha

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr 9:34,487,313...34,498,477

G

uncharacterized LOC100977215

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr 9:34,501,614...34,502,680

G

olfactory receptor 13J1

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr 9:35,718,990...35,722,649

G

microseminoprotein, prostate associated

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr 9:35,603,948...35,605,085
Ensembl chr 9:36,406,679...36,407,845

G

myogenesis regulating glycosidase (putative)

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr 9:34,205,177...34,213,351
Ensembl chr 9:35,015,847...35,017,991

G

natriuretic peptide receptor 2

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr 9:35,642,534...35,660,210
Ensembl chr 9:36,445,576...36,462,637

G

PHD finger protein 24

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr 9:34,735,800...34,829,555
Ensembl chr 9:35,611,517...35,635,964

G

phosphatidylinositol glycan anchor biosynthesis class O

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr 9:34,939,258...34,947,167
Ensembl chr 9:35,744,664...35,752,522

G

reversion inducing cysteine rich protein with kazal motifs

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr 9:35,886,741...35,974,133
Ensembl chr 9:36,699,631...36,774,116

G

RGP1 homolog, RAB6A GEF complex partner 1

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr 9:35,600,213...35,641,371
Ensembl chr 9:36,403,447...36,411,420

G

ribonuclease P/MRP subunit p25 like

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr 9:34,447,073...34,448,762
Ensembl chr 9:35,256,822...35,257,313

G

RUN and SH3 domain containing 2

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr 9:35,339,146...35,411,989
Ensembl chr 9:36,200,865...36,215,582

G

sigma non-opioid intracellular receptor 1

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr 9:34,471,362...34,474,459

G

signaling threshold regulating transmembrane adaptor 1

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr 9:35,501,346...35,502,992
Ensembl chr 9:36,303,675...36,305,328

G

small regulatory polypeptide of amino acid response

ClinVar Annotator: match by term: Anauxetic dysplasia

Ensembl chr 9:36,563,148...36,563,420

G

sperm associated antigen 8

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr 9:35,658,541...35,662,920
Ensembl chr 9:36,460,951...36,465,112

G

SPATA31 subfamily F member 1

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr 9:34,674,545...34,680,875

G

SPATA31 subfamily F member 3

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr 9:34,735,282...34,741,992
Ensembl chr 9:35,545,038...35,551,746

G

SPATA31 subfamily G member 1

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr 9:34,892,418...34,896,577
Ensembl chr 9:35,697,549...35,702,395

G

sperm microtubule inner protein 6

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr 9:34,215,298...34,234,358
Ensembl chr 9:35,024,088...35,043,323

G

stomatin like 2

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr 9:34,950,387...34,953,707
Ensembl chr 9:35,755,790...35,759,091

G

testis associated actin remodelling kinase 1

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr 9:35,456,965...35,461,736
Ensembl chr 9:36,258,902...36,264,545

G

talin 1

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr 9:35,549,328...35,583,376
Ensembl chr 9:36,351,836...36,379,228

G

transmembrane protein 8B

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr 9:35,679,698...35,704,945
Ensembl chr 9:36,482,289...36,507,300

G

tropomyosin 2

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr 9:35,533,982...35,542,033
Ensembl chr 9:36,336,307...36,345,394

G

unc-13 homolog B

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr 9:35,011,350...35,255,148
Ensembl chr 9:35,817,353...36,059,894

G

valosin containing protein

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr 9:34,907,147...34,923,227
Ensembl chr 9:35,712,937...35,729,588

anauxetic dysplasia 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

coiled-coil domain containing 107

ClinVar Annotator: match by term: Spondylometaepiphyseal dysplasia Menger type

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

NCBI chr 9:35,510,289...35,513,195
Ensembl chr 9:36,312,688...36,315,926

G

POP1 homolog, ribonuclease P/MRP subunit

CTD Direct Evidence: marker/mechanism

NCBI chr 8:94,754,028...94,796,374
Ensembl chr 8:96,944,588...96,979,328

anauxetic dysplasia 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

POP1 homolog, ribonuclease P/MRP subunit

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

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

NCBI chr 8:94,754,028...94,796,374
Ensembl chr 8:96,944,588...96,979,328

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 chr 3:110,152,415...110,169,736
Ensembl chr 3:117,076,649...117,094,041

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 chr11:96,841,228...96,866,390
Ensembl chr11:100,340,375...100,356,947

G

B9 domain containing 1

ClinVar Annotator: match by term: Jeune thoracic dystrophy

NCBI chr17:31,735,065...31,779,454
Ensembl chr17:36,914,969...36,941,391

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 chr11:97,298,736...97,324,966
Ensembl chr11:100,793,036...100,822,421

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 chr11:97,269,778...97,290,112
Ensembl chr11:100,763,274...100,785,194

G

C2 domain containing 3 centriole elongation regulator

ClinVar Annotator: match by term: Jeune thoracic dystrophy

PMID:25741868 PMID:26092869

NCBI chr11:69,085,434...69,244,791

G

centrosomal protein 120

CTD Direct Evidence: marker/mechanism

NCBI chr 5:118,736,158...118,815,194
Ensembl chr 5:124,514,996...124,593,259

G

centrosomal protein 126

ClinVar Annotator: match by term: Jeune thoracic dystrophy

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

NCBI chr11:96,864,691...96,950,338
Ensembl chr11:100,363,259...100,447,121

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 chr11:96,997,736...97,034,422
Ensembl chr11:100,495,360...100,530,638

G

ciliogenesis associated kinase 1

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

NCBI chr 6:52,556,272...52,617,199
Ensembl chr 6:54,198,594...54,255,435

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 chr12:40,726,137...40,757,690

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 chr2B:52,744,717...52,962,741
Ensembl chr2B:170,122,687...170,311,348

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 chr11:97,996,643...98,038,108
Ensembl chr11:101,493,113...101,522,920

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 chr11:98,051,788...98,425,676
Ensembl chr11:101,536,471...101,909,194

G

dynein 2 intermediate chain 1

ClinVar Annotator: match by term: Jeune thoracic dystrophy

PMID:25741868 PMID:28492532 PMID:29068549

Ensembl chr 7:162,140,534...162,218,224

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 9:99,755,972...99,780,279
Ensembl chr 9:128,423,053...128,447,387

G

dynein cytoplasmic 2 light intermediate chain 1

CTD Direct Evidence: marker/mechanism

NCBI chr2A:43,858,368...43,912,262
Ensembl chr2A:44,706,777...44,742,724

G

dynein light chain Tctex-type 2B

CTD Direct Evidence: marker/mechanism

NCBI chr 3:193,636,238...193,665,254
Ensembl chr 3:203,580,040...203,607,189

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...

Ensembl chr 4:5,635,151...5,782,657

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 4:1,933,172...1,948,742
Ensembl chr 4:1,843,774...1,861,692

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 1:188,425,697...188,466,721
Ensembl chr 1:193,284,158...193,320,554

G

fuzzy planar cell polarity protein

ClinVar Annotator: match by term: Jeune thoracic dystrophy

NCBI chr19:46,819,833...46,826,235
Ensembl chr19:55,736,325...55,742,589

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 chr2B:53,014,933...53,066,330
Ensembl chr2B:170,335,216...170,539,231

G

G protein-coupled receptor kinase 2

ClinVar Annotator: match by term: Jeune thoracic dystrophy

NCBI chr11:62,624,647...62,644,846
Ensembl chr11:65,939,164...65,959,066

G

intraflagellar transport 140

ClinVar Annotator: match by term: Jeune thoracic dystrophy

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

NCBI chr16:130,150...232,369
Ensembl chr16:1,566,824...1,658,884

G

intraflagellar transport 172

CTD Direct Evidence: marker/mechanism

NCBI chr2A:27,448,139...27,492,302
Ensembl chr2A:27,536,534...27,580,406

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 chr14:56,544,333...56,642,312
Ensembl chr14:75,387,742...75,485,506

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 chr20:39,929,523...39,986,072
Ensembl chr20:41,023,517...41,080,500

G

intraflagellar transport 74

ClinVar Annotator: match by term: Jeune thoracic dystrophy

NCBI chr 9:26,802,459...26,912,292
Ensembl chr 9:27,415,565...27,514,558

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 chr 3:157,279,076...157,421,478
Ensembl chr 3:165,329,056...165,454,905

G

intraflagellar transport 81

ClinVar Annotator: match by term: Jeune thoracic dystrophy

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

NCBI chr12:107,659,663...107,794,066
Ensembl chr12:111,096,722...111,186,217

G

intraflagellar transport 88

ClinVar Annotator: match by term: Jeune thoracic dystrophy

NCBI chr13:1,893,102...2,017,771
Ensembl chr13:20,206,471...20,331,204

G

inturned planar cell polarity protein

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

PMID:25741868 PMID:27158779 PMID:29068549

NCBI chr 4:119,793,245...119,890,949
Ensembl chr 4:131,109,733...131,186,590

G

KIAA0586 ortholog

ClinVar Annotator: match by term: Jeune thoracic dystrophy

NCBI chr14:39,019,518...39,139,460
Ensembl chr14:57,288,938...57,405,726

G

KIAA0753 ortholog

ClinVar Annotator: match by term: Jeune thoracic dystrophy

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

NCBI chr17:6,615,903...6,678,233
Ensembl chr17:6,603,983...6,662,083

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 1:200,865,602...200,892,199
Ensembl chr 1:205,870,394...205,893,032

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 chr2A:19,979,188...20,000,733
Ensembl chr2A:20,095,710...20,116,015

G

matrix metallopeptidase 1

ClinVar Annotator: match by term: Jeune thoracic dystrophy

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

NCBI chr11:97,730,545...97,739,190
Ensembl chr11:101,221,393...101,230,104

G

matrix metallopeptidase 10

ClinVar Annotator: match by term: Jeune thoracic dystrophy

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

NCBI chr11:97,710,819...97,721,263
Ensembl chr11:101,201,665...101,212,103

G

matrix metallopeptidase 12

ClinVar Annotator: match by term: Jeune thoracic dystrophy

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

NCBI chr11:97,809,644...97,822,063
Ensembl chr11:101,294,475...101,306,762

G

matrix metallopeptidase 13

ClinVar Annotator: match by term: Jeune thoracic dystrophy

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

NCBI chr11:97,890,811...97,902,778
Ensembl chr11:101,377,001...101,387,679

G

matrix metallopeptidase 20

ClinVar Annotator: match by term: Jeune thoracic dystrophy

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

NCBI chr11:97,518,573...97,566,881
Ensembl chr11:101,011,084...101,059,322

G

matrix metallopeptidase 27

ClinVar Annotator: match by term: Jeune thoracic dystrophy

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

NCBI chr11:97,630,268...97,644,959
Ensembl chr11:101,123,253...101,137,315

G

matrix metallopeptidase 3

ClinVar Annotator: match by term: Jeune thoracic dystrophy

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

NCBI chr11:97,776,729...97,784,549
Ensembl chr11:101,267,566...101,275,354

G

matrix metallopeptidase 7

ClinVar Annotator: match by term: Jeune thoracic dystrophy

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

NCBI chr11:97,467,037...97,477,305
Ensembl chr11:100,960,032...100,971,099

G

matrix metallopeptidase 8

ClinVar Annotator: match by term: Jeune thoracic dystrophy

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

NCBI chr11:97,650,408...97,663,731
Ensembl chr11:101,143,268...101,156,736

G

NIMA related kinase 1

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

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

NCBI chr 4:161,618,181...161,830,332
Ensembl chr 4:173,690,074...173,902,100

G

RAB34, member RAS oncogene family

ClinVar Annotator: match by term: Jeune's syndrome

PMID:25741868 PMID:37619988

NCBI chr17:28,057,077...28,061,234
Ensembl chr17:28,562,118...28,566,242

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 chr2B:53,258,614...53,348,131
Ensembl chr2B:170,736,651...170,822,014

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 chr2B:52,514,918...52,667,225
Ensembl chr2B:169,928,323...170,027,509

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 chr2B:52,363,020...52,479,818
Ensembl chr2B:169,722,134...169,838,590

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 chr2B:53,468,290...53,643,747
Ensembl chr2B:170,944,974...171,054,013

G

SAFB like transcription modulator

ClinVar Annotator: match by term: Jeune thoracic dystrophy

NCBI chr15:37,848,629...37,903,221
Ensembl chr15:56,158,460...56,211,695

G

SNF2 related chromatin remodeling ATPase with DExD box 1

NCBI chr 4:86,567,722...86,651,527
Ensembl chr 4:97,240,614...97,324,366

G

spectrin alpha, non-erythrocytic 1

ClinVar Annotator: match by term: Jeune thoracic dystrophy

PMID:24183451 PMID:28492532 PMID:29068549

NCBI chr 9:99,674,819...99,755,973
Ensembl chr 9:128,341,739...128,422,971

G

transmembrane protein 123

ClinVar Annotator: match by term: Jeune thoracic dystrophy

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

NCBI chr11:97,342,669...97,399,342
Ensembl chr11:100,835,988...100,892,618

G

TRAF3 interacting protein 1

ClinVar Annotator: match by term: Jeune thoracic dystrophy

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

NCBI chr2B:125,558,537...125,637,733
Ensembl chr2B:244,405,992...244,481,785

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 chr11:96,414,498...96,551,670
Ensembl chr11:99,919,410...100,050,685

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 chr2B:53,140,199...53,220,535
Ensembl chr2B:170,616,444...170,699,471

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 4:33,511,283...33,616,946
Ensembl chr 4:39,365,276...39,462,903

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 chr2A:19,896,498...19,977,295
Ensembl chr2A:20,014,127...20,093,810

G

Yes1 associated transcriptional regulator

ClinVar Annotator: match by term: Jeune thoracic dystrophy

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

NCBI chr11:97,061,367...97,186,961
Ensembl chr11:100,552,424...100,681,301

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 chr2A:43,896,188...43,922,756
Ensembl chr2A:44,745,183...44,771,012

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 chr2B:52,744,717...52,962,741
Ensembl chr2B:170,122,687...170,311,348

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 chr11:98,051,788...98,425,676
Ensembl chr11:101,536,471...101,909,194

G

dynein 2 intermediate chain 1

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

PMID:25741868 PMID:28492532 PMID:29068549

Ensembl chr 7:162,140,534...162,218,224

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 chr2A:43,858,368...43,912,262
Ensembl chr2A:44,706,777...44,742,724

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...

Ensembl chr 4:5,635,151...5,782,657

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 chr2B:53,014,933...53,066,330
Ensembl chr2B:170,335,216...170,539,231

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 chr16:130,150...232,369
Ensembl chr16:1,566,824...1,658,884

G

intraflagellar transport 172

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

PMID:25741868 PMID:28492532

NCBI chr2A:27,448,139...27,492,302
Ensembl chr2A:27,536,534...27,580,406

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 chr 3:157,279,076...157,421,478
Ensembl chr 3:165,329,056...165,454,905

G

lamin B receptor

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

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

NCBI chr 1:200,865,602...200,892,199
Ensembl chr 1:205,870,394...205,893,032

G

NIMA related kinase 1

ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 1

NCBI chr 4:161,618,181...161,830,332
Ensembl chr 4:173,690,074...173,902,100

G

RAB34, member RAS oncogene family

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

PMID:25741868 PMID:37619988

NCBI chr17:28,057,077...28,061,234
Ensembl chr17:28,562,118...28,566,242

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 chr2B:53,258,614...53,348,131
Ensembl chr2B:170,736,651...170,822,014

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 chr2B:52,514,918...52,667,225
Ensembl chr2B:169,928,323...170,027,509

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 chr2B:52,363,020...52,479,818
Ensembl chr2B:169,722,134...169,838,590

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 chr2B:53,468,290...53,643,747
Ensembl chr2B:170,944,974...171,054,013

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 chr2B:53,140,199...53,220,535
Ensembl chr2B:170,616,444...170,699,471

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 4:33,511,283...33,616,946
Ensembl chr 4:39,365,276...39,462,903

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 chr 3:157,279,076...157,421,478
Ensembl chr 3:165,329,056...165,454,905

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 chr10:116,221,747...116,248,692
Ensembl chr10:119,643,963...119,665,964

G

dynein cytoplasmic 1 heavy chain 1

ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 3

PMID:25741868 PMID:28492532

NCBI chr14:82,584,876...82,670,750
Ensembl chr14:102,406,993...102,489,475

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 chr11:98,051,788...98,425,676
Ensembl chr11:101,536,471...101,909,194

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

Ensembl chr 7:162,140,534...162,218,224

G

dynein 2 intermediate chain 2

ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 3

NCBI chr 9:99,755,972...99,780,279
Ensembl chr 9:128,423,053...128,447,387

G

dynein light chain Tctex-type 2B

ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 3

NCBI chr 3:193,636,238...193,665,254
Ensembl chr 3:203,580,040...203,607,189

G

family with sequence similarity 98 member C

ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 3

NCBI chr19:35,497,144...35,503,168
Ensembl chr19:44,068,957...44,074,586

G

intraflagellar transport 80

OMIM:613091

NCBI chr 3:157,279,076...157,421,478
Ensembl chr 3:165,329,056...165,454,905

G

kinesin family member 24

ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 3

NCBI chr 9:34,088,760...34,165,306
Ensembl chr 9:34,898,729...34,973,978

G

NIMA related kinase 1

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

PMID:21211617 PMID:25741868

NCBI chr 4:161,618,181...161,830,332
Ensembl chr 4:173,690,074...173,902,100

G

transmembrane protein 256

ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 3

NCBI chr17:7,437,147...7,438,323
Ensembl chr17:7,423,655...7,424,798

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 chr2B:53,140,199...53,220,535
Ensembl chr2B:170,616,444...170,699,471

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 4:33,511,283...33,616,946
Ensembl chr 4:39,365,276...39,462,903

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 5:145,385,433...145,412,180
Ensembl chr 5:151,391,842...151,412,676

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 chr 3:57,943,263...58,107,115
Ensembl chr 3:59,359,234...59,521,989

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 5:145,385,433...145,412,180
Ensembl chr 5:151,391,842...151,412,676

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 chr 3:57,943,263...58,107,115
Ensembl chr 3:59,359,234...59,521,989

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 chr17:13,639,088...13,644,152
Ensembl chr17:13,804,374...13,809,432

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 5:15,014,019...15,175,467
Ensembl chr 5:14,855,914...14,917,729

G

OTU deubiquitinase with linear linkage specificity

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

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

NCBI chr 5:14,969,432...15,017,666
Ensembl chr 5:14,809,539...14,837,750

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 Kb

ClinVar Annotator: match by term: Autosomal dominant osteopetrosis 1

NCBI chr 1:15,180,858...15,194,757
Ensembl chr 1:16,174,570...16,188,166

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 chr11:63,396,511...63,534,471
Ensembl chr11:66,735,246...66,839,817

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 chr16:64,599...95,016
Ensembl chr16:1,498,432...1,519,951

Autosomal Dominant Osteopetrosis 3

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

pleckstrin homology and RUN domain containing M1

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

PMID:17997709 PMID:25741868

NCBI chr17:11,836,726...11,891,614
Ensembl chr17:12,011,604...12,063,912

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 6:119,213,513...119,227,617

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 chr19:37,637,509...37,674,791
Ensembl chr19:46,144,485...46,181,636

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 chr16:54,158...64,522
Ensembl chr16:1,488,750...1,498,293

G

pleckstrin homology and RUN domain containing M1

ClinVar Annotator: match by term: Autosomal recessive osteopetrosis 1

PMID:35342016 PMID:36195244

NCBI chr17:11,836,726...11,891,614
Ensembl chr17:12,011,604...12,063,912

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 chr11:63,120,913...63,132,831
Ensembl chr11:66,429,435...66,441,327

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 chr13:23,750,835...23,784,740

autosomal recessive osteopetrosis 3

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

carbonic anhydrase 2

ClinVar Annotator: match by term: Osteopetrosis with renal tubular acidosis

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

NCBI chr 8:81,991,037...82,009,010
Ensembl chr 8:83,597,440...83,632,580

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 chr16:64,599...95,016
Ensembl chr16:1,498,432...1,519,951

autosomal recessive osteopetrosis 5

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

osteoclastogenesis associated transmembrane protein 1

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

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

NCBI chr 6:105,842,261...105,874,429
Ensembl chr 6:109,705,519...109,738,691

autosomal recessive osteopetrosis 6

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

pleckstrin homology and RUN domain containing M1

ClinVar Annotator: match by term: Autosomal recessive osteopetrosis 6

PMID:17404618 PMID:25741868

NCBI chr17:11,836,726...11,891,614
Ensembl chr17:12,011,604...12,063,912

autosomal recessive osteopetrosis 7

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

TNF receptor superfamily member 11a

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

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

NCBI chr18:55,695,394...55,761,307
Ensembl chr18:59,034,770...59,075,044

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 chr 7:26,935,357...27,017,461
Ensembl chr 7:26,537,189...26,620,720

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 chr 7:142,646,413...142,663,376
Ensembl chr 7:154,799,256...154,815,919

autosomal recessive spondyloepiphyseal dysplasia tarda

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

cellular communication network factor 6

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

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

NCBI chr 6:109,863,877...109,880,480
Ensembl chr 6:113,939,975...113,955,427

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 chr21:30,585,802...30,595,981
Ensembl chr21:43,881,219...43,889,891

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 chr11:98,051,788...98,425,676
Ensembl chr11:101,536,471...101,909,194

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...

Ensembl chr 4:5,635,151...5,782,657

G

intraflagellar transport 80

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

PMID:28492532 PMID:29068549

NCBI chr 3:157,279,076...157,421,478
Ensembl chr 3:165,329,056...165,454,905

G

NIMA related kinase 1

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

PMID:25741868 PMID:29068549

NCBI chr 4:161,618,181...161,830,332
Ensembl chr 4:173,690,074...173,902,100

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 chr2B:53,140,199...53,220,535
Ensembl chr2B:170,616,444...170,699,471

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 4:33,511,283...33,616,946
Ensembl chr 4:39,365,276...39,462,903

Beukes hip dysplasia

term browser

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Evidence

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PubMed Reference(s)

RGD Reference(s)

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G

ankyrin repeat domain 37

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

NCBI chr 4:177,559,012...177,563,343
Ensembl chr 4:189,776,184...189,780,053

G

cilia and flagella associated protein 96

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

PMID:25741868 PMID:28492532 PMID:33473208

NCBI chr 4:177,589,308...177,612,834
Ensembl chr 4:189,805,849...189,828,919

G

UFM1 specific peptidase 2

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

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

NCBI chr 4:177,562,642...177,589,312
Ensembl chr 4:189,779,242...189,805,572

Boomerang dysplasia

term browser

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Evidence

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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 chr 3:57,943,263...58,107,115
Ensembl chr 3:59,359,234...59,521,989

brachyolmia

term browser

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Evidence

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Source

PubMed Reference(s)

RGD Reference(s)

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G

latent transforming growth factor beta binding protein 3

CTD Direct Evidence: marker/mechanism

NCBI chr11:60,897,897...60,917,690
Ensembl chr11:64,233,504...64,252,802

G

3'-phosphoadenosine 5'-phosphosulfate synthase 2

ClinVar Annotator: match by term: Brachyolmia

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

NCBI chr10:84,383,936...84,471,745
Ensembl chr10:87,890,631...87,977,839

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 chr12:107,359,005...107,409,359
Ensembl chr12:110,754,238...110,786,182

Brachyolmia Type 2

term browser

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Object Name

Qualifiers

Evidence

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Source

PubMed Reference(s)

RGD Reference(s)

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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 chr12:107,359,005...107,409,359
Ensembl chr12:110,754,238...110,786,182

Brachyolmia Type 3

term browser

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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 chr12:107,359,005...107,409,359
Ensembl chr12:110,754,238...110,786,182

brachyolmia-amelogenesis imperfecta syndrome

term browser

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Object Name

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Evidence

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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 chr11:60,897,897...60,917,690
Ensembl chr11:64,233,504...64,252,802

G

SCY1 like pseudokinase 1

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

PMID:25741868 PMID:28492532

NCBI chr11:60,884,136...60,897,790
Ensembl chr11:64,218,464...64,233,413

Braddock-Carey Syndrome 2

term browser

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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 chr 3:44,656,791...44,774,655
Ensembl chr 3:45,713,962...45,809,700

BRAIN ABNORMALITIES, NEURODEGENERATION, AND DYSOSTEOSCLEROSIS

term browser

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Object Name

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Notes

Source

PubMed Reference(s)

RGD Reference(s)

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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 5:145,478,725...145,537,858
Ensembl chr 5:151,483,572...151,517,415

Bronchomalacia

term browser

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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 chr19:35,527,466...35,685,446
Ensembl chr19:44,106,036...44,256,327

Bruck syndrome

term browser

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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 chr17:15,490,667...15,500,894
Ensembl chr17:15,709,629...15,718,953

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 chr 3:143,091,833...143,181,831
Ensembl chr 3:150,675,424...150,764,939

Bruck Syndrome 1

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

collagen type I alpha 2 chain

ClinVar Annotator: match by term: Bruck syndrome 1

NCBI chr 7:86,344,657...86,381,282
Ensembl chr 7:99,935,185...99,971,803

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 chr17:15,490,667...15,500,894
Ensembl chr17:15,709,629...15,718,953

Bruck Syndrome 2

term browser

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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 chr 3:143,091,833...143,181,831
Ensembl chr 3:150,675,424...150,764,939

Buschke-Ollendorff syndrome

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

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G

elastin

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 chr12:23,668,368...23,747,369
Ensembl chr12:24,172,749...24,252,314

Caffey disease

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

alpha 1,4-galactosyltransferase (P1PK blood group)

ClinVar Annotator: match by term: Infantile cortical hyperostosis

PMID:20971946 PMID:28492532

NCBI chr22:23,587,378...23,615,467
Ensembl chr22:41,739,062...41,740,123

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 chr17:44,274,349...44,291,764
Ensembl chr17:49,150,677...49,166,677

calvarial doughnut lesions with bone fragility

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

sphingomyelin synthase 2

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

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

NCBI chr 4:100,329,642...100,420,398
Ensembl chr 4:110,936,358...110,992,887

G

structural maintenance of chromosomes 1A

ClinVar Annotator: match by term: CDL

NCBI chr X:45,576,100...45,637,314
Ensembl chr X:53,697,154...53,745,636

campomelic dysplasia

term browser

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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 chr17:64,097,908...64,112,914
Ensembl chr17:69,487,846...69,489,129

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 chr17:66,028,737...66,034,122

Campomelic Dysplasia with Autosomal Sex Reversal

term browser

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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 chr17:66,028,737...66,034,122

Camurati-Engelmann disease

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

LDL receptor related protein 5

ClinVar Annotator: match by term: Diaphyseal dysplasia

NCBI chr11:63,396,511...63,534,471
Ensembl chr11:66,735,246...66,839,817

G

melanocyte inducing transcription factor

OMIM:131300 | OMIM:606631

NCBI chr 3:69,674,064...69,902,078
Ensembl chr 3:71,037,665...71,265,445

G

transforming growth factor beta 1

ClinVar Annotator: match by term: Diaphyseal dysplasia

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

NCBI chr19:38,324,009...38,347,003
Ensembl chr19:46,831,659...46,852,973

Carey-Fineman-Ziter syndrome

term browser

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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 9:104,638,011...104,668,204
Ensembl chr 9:133,248,761...133,259,631

Carey-Fineman-Ziter Syndrome 1

term browser

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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 9:104,638,011...104,668,204
Ensembl chr 9:133,248,761...133,259,631

Carey-Fineman-Ziter Syndrome 2

term browser

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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 chr 6:43,812,606...43,814,252
Ensembl chr 6:45,097,114...45,097,368

cartilage-hair hypoplasia

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

coiled-coil domain containing 107

ClinVar Annotator: match by term: Cartilage-hair hypoplasia

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

NCBI chr 9:35,510,289...35,513,195
Ensembl chr 9:36,312,688...36,315,926

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

term browser

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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 chr 1:195,666,995...195,720,661
Ensembl chr 1:200,703,711...200,757,648

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 chr2B:16,792,401...16,947,766
Ensembl chr2B:146,975,995...147,132,634

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 chr13:75,747,686...75,770,010
Ensembl chr13:94,903,511...94,925,637

cherubism

term browser

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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 4:2,986,301...3,072,590
Ensembl chr 4:2,920,781...2,975,012

G

ATP synthase membrane subunit e

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

Ensembl chr 4:705,707...707,172

G

complexin 1

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 4:889,037...930,046
Ensembl chr 4:819,833...858,953

G

C-terminal binding protein 1

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 4:1,354,806...1,393,244
Ensembl chr 4:1,238,984...1,266,822

G

diacylglycerol kinase theta

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 4:1,075,133...1,090,081
Ensembl chr 4:994,985...1,007,724

G

docking protein 7

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 4:3,613,018...3,653,764
Ensembl chr 4:3,605,185...3,628,570

G

family with sequence similarity 193 member A

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 4:2,678,935...2,875,203
Ensembl chr 4:2,641,979...2,777,761

G

family with sequence similarity 53 member A

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

Ensembl chr 4:1,647,466...1,722,938

G

fibroblast growth factor receptor 3

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 4:1,933,172...1,948,742
Ensembl chr 4:1,843,774...1,861,692

G

fibroblast growth factor receptor like 1

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 4:1,125,623...1,142,884
Ensembl chr 4:1,045,583...1,059,936

G

cyclin G associated kinase

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 4:952,474...1,049,612
Ensembl chr 4:883,096...967,473

G

G protein-coupled receptor kinase 4

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 4:3,106,064...3,181,270
Ensembl chr 4:3,008,126...3,083,094

G

HAUS augmin like complex subunit 3

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 4:2,370,947...2,385,108
Ensembl chr 4:2,282,482...2,292,739

G

HGF activator

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 4:3,590,908...3,599,781
Ensembl chr 4:3,575,819...3,583,436

G

huntingtin

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 4:3,215,081...3,388,587
Ensembl chr 4:3,128,718...3,283,730

G

alpha-L-iduronidase

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 4:1,102,288...1,120,973
Ensembl chr 4:1,020,582...1,037,877

G

leucine zipper and EF-hand containing transmembrane protein 1

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 4:1,953,033...1,994,958
Ensembl chr 4:1,862,788...1,900,901

G

macrophage erythroblast attacher, E3 ubiquitin ligase

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 4:1,432,848...1,485,764
Ensembl chr 4:1,315,810...1,366,448

G

major facilitator superfamily domain containing 10

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 4:3,073,071...3,077,765
Ensembl chr 4:2,975,493...2,979,791

G

Myb/SANT DNA binding domain containing 1

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 4:3,393,646...3,408,820
Ensembl chr 4:3,290,354...3,305,139

G

MAX dimerization protein 4

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 4:2,390,409...2,405,141

G

myosin light chain 5

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 4:723,153...725,981
Ensembl chr 4:708,548...715,897

G

N-acetyltransferase 8 like

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 4:2,201,326...2,211,302

G

negative elongation factor complex member A

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 4:2,119,699...2,147,618
Ensembl chr 4:2,027,939...2,054,669

G

NELL2 interacting cell ontogeny regulator 1

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 4:2,184,128...2,186,148

G

NK1 homeobox 1

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 4:1,547,939...1,551,457

G

NOP14 nucleolar protein

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 4:3,080,444...3,105,999
Ensembl chr 4:2,982,906...3,007,548

G

nuclear receptor binding SET domain protein 2

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 4:2,009,276...2,119,182
Ensembl chr 4:1,945,307...2,027,425

G

polycomb group ring finger 3

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 4:802,990...874,063
Ensembl chr 4:746,137...805,443

G

phosphodiesterase 6B

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

Ensembl chr 4:646,516...701,680

G

phosphatidylinositol glycan anchor biosynthesis class G (EMM blood group)

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 4:499,795...540,453
Ensembl chr 4:521,807...561,790

G

DNA polymerase nu

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 4:2,214,154...2,385,094
Ensembl chr 4:2,122,309...2,292,431

G

regulator of G protein signaling 12

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 4:3,439,030...3,589,026
Ensembl chr 4:3,444,570...3,573,712

G

Ras like without CAAX 1

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 1:131,232,277...131,245,437
Ensembl chr 1:135,063,000...135,074,942

G

ring finger protein 212

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 4:1,167,176...1,259,080
Ensembl chr 4:1,102,342...1,146,153

G

ring finger protein 4

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 4:2,614,918...2,661,785
Ensembl chr 4:2,540,612...2,563,937

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 4:2,936,051...2,982,062
Ensembl chr 4:2,857,249...2,882,263

G

stem-loop histone mRNA binding protein

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 4:1,830,247...1,849,890
Ensembl chr 4:1,744,616...1,763,796

G

solute carrier family 26 member 1

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 4:1,102,938...1,112,987
Ensembl chr 4:1,012,920...1,026,402

G

solute carrier family 49 member 3

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 4:725,725...733,127
Ensembl chr 4:715,736...723,399

G

spondin 2

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 4:1,309,473...1,351,529
Ensembl chr 4:1,195,848...1,200,400

G

transforming acidic coiled-coil containing protein 3

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 4:1,858,595...1,882,727
Ensembl chr 4:1,772,836...1,796,019

G

transmembrane protein 129, E3 ubiquitin ligase

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 4:1,853,126...1,858,461
Ensembl chr 4:1,767,517...1,772,643

G

transmembrane protein 175

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 4:1,049,647...1,074,903
Ensembl chr 4:967,494...993,030

G

TNFAIP3 interacting protein 2

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 4:2,884,265...2,899,160

G

UV stimulated scaffold protein A

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 4:1,492,716...1,532,114
Ensembl chr 4:1,373,562...1,413,982

G

zinc finger FYVE-type containing 28

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 4:2,412,659...2,564,741
Ensembl chr 4:2,320,446...2,470,638

G

zinc finger protein 721

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 4:441,041...499,744

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 chr19:39,135,757...39,143,343
Ensembl chr19:47,728,192...47,735,808

chondrodysplasia Blomstrand type

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

myosin light chain 3

ClinVar Annotator: match by term: Chondrodysplasia Blomstrand type

NCBI chr 3:46,758,058...46,782,425
Ensembl chr 3:47,859,467...47,865,084

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 chr 3:46,777,945...46,804,039
Ensembl chr 3:47,894,901...47,905,431

chondrodysplasia punctata

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

arylsulfatase L

susceptibility

Ensembl chr X:2,858,431...2,919,756

G

EBP cholestenol delta-isomerase

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

PMID:10391218 PMID:18176751

NCBI chr X:40,820,042...40,826,957

chondrodysplasia with joint dislocations gPAPP type

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

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

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

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

NCBI chr 8:53,385,837...53,417,019
Ensembl chr 8:50,753,792...50,785,055

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:41,099,539...41,122,650
Ensembl chr X:48,960,430...48,982,642

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 1:185,885,604...186,231,857
Ensembl chr 1:190,755,249...191,100,284

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 1:206,252,141...206,263,830
Ensembl chr 1:211,279,015...211,291,044

G

RUNX family transcription factor 2

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

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

NCBI chr 6:45,003,962...45,133,148
Ensembl chr 6:46,189,432...46,524,389

G

SPT3 homolog, SAGA and STAGA complex component

ClinVar Annotator: match by term: Cleidocranial dysostosis

NCBI chr 6:44,406,978...44,960,039

G

T-box transcription factor 1

NCBI chr22:2,521,080...2,541,267

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 chr16:47,373,543...47,446,783

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 chr19:4,709,062...4,735,653
Ensembl chr19:5,644,525...5,670,956

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 chr17:76,248,252...76,266,152
Ensembl chr17:81,950,422...81,968,109

G

SEC24 homolog D, COPII coat complex component