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RGD DISEASE ONTOLOGY - ANNOTATIONS

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
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Accession:DOID:1222 term browser 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.

GViewer not supported for the selected species.

show annotations for term's descendants           Sort by:
cartilage disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bmp4 bone morphogenetic protein 4 treatment ISO RGD PMID:16447218 RGD:8699518 NCBI chrNW_004955409:9,432,835...9,439,680
Ensembl chrNW_004955409:9,432,841...9,440,303 		JBrowse link
G Col11a2 collagen type XI alpha 2 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:11668593 NCBI chrNW_004955437:1,739,426...1,767,087
Ensembl chrNW_004955437:1,740,402...1,766,490 		JBrowse link
G Col2a1 collagen type II alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:27028940 NCBI chrNW_004955500:6,860,771...6,885,466
Ensembl chrNW_004955500:6,860,771...6,885,473 		JBrowse link
G Edn1 endothelin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20707411 NCBI chrNW_004955465:2,287,906...2,314,945
Ensembl chrNW_004955465:2,287,798...2,314,753 		JBrowse link
G Fgf14 fibroblast growth factor 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11241832 NCBI chrNW_004955404:8,704,344...9,329,917
Ensembl chrNW_004955404:8,705,112...9,325,117 		JBrowse link
G Gata2 GATA binding protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20707411 NCBI chrNW_004955429:15,326,551...15,334,774
Ensembl chrNW_004955429:15,327,113...15,336,460 		JBrowse link
G Nppc natriuretic peptide C ISO CTD Direct Evidence: marker/mechanism CTD PMID:17676597 NCBI chrNW_004955453:3,884,580...3,888,494
Ensembl chrNW_004955453:3,884,560...3,888,850 		JBrowse link
acheiropody term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lmbr1 limb development membrane protein 1 ISO ClinVar Annotator: match by term: Acheiropodia OMIM
ClinVar		 PMID:11090342 PMID:33863876 NCBI chrNW_004955491:9,171,462...9,217,996 JBrowse link
achondrogenesis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc26a2 solute carrier family 26 member 2 ISO ClinVar Annotator: match by term: Achondrogenesis ClinVar NCBI chrNW_004955415:4,540,302...4,556,360
Ensembl chrNW_004955415:4,540,302...4,556,360 		JBrowse link
G Trip11 thyroid hormone receptor interactor 11 ISO ClinVar Annotator: match by term: Achondrogenesis ClinVar NCBI chrNW_004955438:14,327,400...14,394,022
Ensembl chrNW_004955438:14,322,576...14,394,022 		JBrowse link
achondrogenesis type IA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Asb2 ankyrin repeat and SOCS box containing 2 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chrNW_004955438:16,005,570...16,041,668
Ensembl chrNW_004955438:16,005,570...16,042,115 		JBrowse link
G Atxn3 ataxin 3 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chrNW_004955438:14,405,415...14,443,457
Ensembl chrNW_004955438:14,405,643...14,440,009 		JBrowse link
G Btbd7 BTB domain containing 7 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chrNW_004955438:15,345,678...15,445,705
Ensembl chrNW_004955438:15,351,688...15,445,704 		JBrowse link
G Calm1 calmodulin 1 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chrNW_004955438:12,842,437...12,854,028
Ensembl chrNW_004955438:12,842,437...12,854,028 		JBrowse link
G Catsperb cation channel sperm associated auxiliary subunit beta ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chrNW_004955438:13,822,642...13,978,777 JBrowse link
G Ccdc88c coiled-coil domain containing 88C ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chrNW_004955438:13,585,469...13,708,170 JBrowse link
G Chga chromogranin A ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chrNW_004955438:15,092,267...15,104,321
Ensembl chrNW_004955438:15,092,394...15,104,381 		JBrowse link
G Cpsf2 cleavage and polyadenylation specific factor 2 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chrNW_004955438:14,449,320...14,483,003
Ensembl chrNW_004955438:14,452,943...14,483,199 		JBrowse link
G Ddx24 DEAD-box helicase 24 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chrNW_004955438:16,100,345...16,116,377
Ensembl chrNW_004955438:16,100,594...16,114,657 		JBrowse link
G Dglucy D-glutamate cyclase ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chrNW_004955438:13,440,883...13,554,969
Ensembl chrNW_004955438:13,489,999...13,545,523 		JBrowse link
G Fam181a family with sequence similarity 181 member A ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chrNW_004955438:15,992,016...16,001,584
Ensembl chrNW_004955438:15,995,256...16,001,584 		JBrowse link
G Fbln5 fibulin 5 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chrNW_004955438:14,073,927...14,144,644
Ensembl chrNW_004955438:14,071,410...14,145,070 		JBrowse link
G Golga5 golgin A5 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chrNW_004955438:14,992,710...15,031,297
Ensembl chrNW_004955438:14,992,710...15,035,136 		JBrowse link
G Gon7 GON7 subunit of KEOPS complex ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chrNW_004955438:15,319,033...15,321,648 JBrowse link
G Gpr68 G protein-coupled receptor 68 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chrNW_004955438:13,553,770...13,575,093
Ensembl chrNW_004955438:13,555,379...13,559,465 		JBrowse link
G Itpk1 inositol-tetrakisphosphate 1-kinase ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chrNW_004955438:15,107,992...15,257,730
Ensembl chrNW_004955438:15,107,891...15,257,740 		JBrowse link
G Kcnk13 potassium two pore domain channel subfamily K member 13 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chrNW_004955438:12,522,063...12,660,078
Ensembl chrNW_004955438:12,522,737...12,663,480 		JBrowse link
G Lgmn legumain ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chrNW_004955438:14,905,856...14,938,722
Ensembl chrNW_004955438:14,905,856...14,939,256 		JBrowse link
G LOC102005637 cytochrome c oxidase subunit 8C, mitochondrial ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chrNW_004955438:15,480,509...15,481,812 JBrowse link
G LOC102021597 alpha-1-antiproteinase S-like ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chrNW_004955438:17,920,200...17,929,105 JBrowse link
G Lyset lysosomal enzyme trafficking factor ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chrNW_004955438:15,305,699...15,309,851 JBrowse link
G Ndufb1 NADH:ubiquinone oxidoreductase subunit B1 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chrNW_004955438:14,443,558...14,449,754 JBrowse link
G Nrde2 NRDE-2, necessary for RNA interference, domain containing ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chrNW_004955438:12,726,206...12,780,364
Ensembl chrNW_004955438:12,726,357...12,780,379 		JBrowse link
G Otub2 OTU deubiquitinase, ubiquitin aldehyde binding 2 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chrNW_004955438:16,079,859...16,096,686
Ensembl chrNW_004955438:16,079,860...16,096,686 		JBrowse link
G Ppp4r3a protein phosphatase 4 regulatory subunit 3A ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chrNW_004955438:13,731,900...13,769,189
Ensembl chrNW_004955438:13,729,949...13,769,189 		JBrowse link
G Ppp4r4 protein phosphatase 4 regulatory subunit 4 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chrNW_004955438:16,237,472...16,332,542
Ensembl chrNW_004955438:16,237,472...16,332,542 		JBrowse link
G Prima1 proline rich membrane anchor 1 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chrNW_004955438:15,835,641...15,903,484 JBrowse link
G Psmc1 proteasome 26S subunit, ATPase 1 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chrNW_004955438:12,705,328...12,721,050
Ensembl chrNW_004955438:12,704,691...12,721,050 		JBrowse link
G Rin3 Ras and Rab interactor 3 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chrNW_004955438:14,777,866...14,898,572
Ensembl chrNW_004955438:14,778,262...14,898,747 		JBrowse link
G Rps6ka5 ribosomal protein S6 kinase A5 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chrNW_004955438:13,218,451...13,392,080
Ensembl chrNW_004955438:13,217,222...13,392,674 		JBrowse link
G Serpina10 serpin family A member 10 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chrNW_004955438:16,335,201...16,345,093
Ensembl chrNW_004955438:16,335,544...16,345,094 		JBrowse link
G Serpina6 serpin family A member 6 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chrNW_004955438:16,356,600...16,380,861
Ensembl chrNW_004955438:16,356,540...16,380,872 		JBrowse link
G Slc24a4 solute carrier family 24 member 4 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chrNW_004955438:14,609,779...14,765,516
Ensembl chrNW_004955438:14,609,424...14,759,673 		JBrowse link
G Tc2n tandem C2 domains, nuclear ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chrNW_004955438:14,012,199...14,047,174
Ensembl chrNW_004955438:14,000,322...14,047,415 		JBrowse link
G Tdp1 tyrosyl-DNA phosphodiesterase 1 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chrNW_004955438:12,421,790...12,510,243
Ensembl chrNW_004955438:12,421,005...12,511,493 		JBrowse link
G Trip11 thyroid hormone receptor interactor 11 ISO 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 OMIM
ClinVar		 PMID:200899 PMID:2008997 PMID:9536098 PMID:16199547 PMID:17576681 More... NCBI chrNW_004955438:14,327,400...14,394,022
Ensembl chrNW_004955438:14,322,576...14,394,022 		JBrowse link
G Ttc7b tetratricopeptide repeat domain 7B ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chrNW_004955438:12,946,594...13,165,239
Ensembl chrNW_004955438:12,946,549...13,187,375 		JBrowse link
G Ubr7 ubiquitin protein ligase E3 component n-recognin 7 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chrNW_004955438:15,321,605...15,341,902
Ensembl chrNW_004955438:15,321,719...15,342,116 		JBrowse link
G Unc79 unc-79 homolog, NALCN channel complex subunit ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chrNW_004955438:15,575,438...15,825,575
Ensembl chrNW_004955438:15,577,140...15,825,136 		JBrowse link
achondrogenesis type IB term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc26a2 solute carrier family 26 member 2 ISO ClinVar Annotator: match by term: Achondrogenesis Fraccaro type | ClinVar Annotator: match by term: Achondrogenesis, type IB OMIM
ClinVar		 PMID:4644462 PMID:7695699 PMID:7923357 PMID:8218237 PMID:8528239 More... NCBI chrNW_004955415:4,540,302...4,556,360
Ensembl chrNW_004955415:4,540,302...4,556,360 		JBrowse link
achondrogenesis type II term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col2a1 collagen type II alpha 1 chain ISO ClinVar Annotator: match by term: Achondrogenesis type II | ClinVar Annotator: match by term: Chondrogenesis imperfecta OMIM
ClinVar		 PMID:7695699 PMID:7752132 PMID:7757081 PMID:7829510 PMID:7977371 More... NCBI chrNW_004955500:6,860,771...6,885,466
Ensembl chrNW_004955500:6,860,771...6,885,473 		JBrowse link
achondroplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acan aggrecan ISO OMIM:100800 MouseDO NCBI chrNW_004955416:16,125,536...16,186,046 JBrowse link
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: Achondroplasia ClinVar PMID:16571647 PMID:16905551 PMID:17701892 PMID:19349279 PMID:25741868 More... NCBI chrNW_004955409:5,281,603...5,502,547
Ensembl chrNW_004955409:5,281,603...5,504,761 		JBrowse link
G Fgfr3 fibroblast growth factor receptor 3 severity ISO 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... RGD:11568054 NCBI chrNW_004955514:1,030,244...1,038,590
Ensembl chrNW_004955514:1,025,600...1,038,590 		JBrowse link
G Nppc natriuretic peptide C ISO OMIM:100800 MouseDO NCBI chrNW_004955453:3,884,580...3,888,494
Ensembl chrNW_004955453:3,884,560...3,888,850 		JBrowse link
G Npr2 natriuretic peptide receptor 2 ISO DNA:missense mutation:cds:p.L885R (mouse)
OMIM:100800		 RGD
MouseDO		 PMID:15722353 RGD:1580771 NCBI chrNW_004955472:506,351...523,647
Ensembl chrNW_004955472:506,351...523,316 		JBrowse link
G Pthlh parathyroid hormone like hormone ISO OMIM:100800 MouseDO NCBI chrNW_004955505:6,834,533...6,846,909
Ensembl chrNW_004955505:6,834,533...6,847,335 		JBrowse link
G Spred2 sprouty related EVH1 domain containing 2 ISO OMIM:100800 MouseDO NCBI chrNW_004955424:19,133,568...19,250,118
Ensembl chrNW_004955424:19,133,568...19,250,118 		JBrowse link
Achondroplastic Dwarfism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgfr3 fibroblast growth factor receptor 3 ISO ClinVar Annotator: match by term: Achondroplastic dwarfism ClinVar PMID:1908846 PMID:4697848 PMID:7647778 PMID:7649548 PMID:7670477 More... NCBI chrNW_004955514:1,030,244...1,038,590
Ensembl chrNW_004955514:1,025,600...1,038,590 		JBrowse link
acrocapitofemoral dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ihh Indian hedgehog signaling molecule ISO ClinVar Annotator: match by term: Acrocapitofemoral dysplasia OMIM
ClinVar		 PMID:12624140 PMID:12632327 PMID:25741868 PMID:28492532 PMID:34530144 NCBI chrNW_004955453:14,376,665...14,382,536
Ensembl chrNW_004955453:14,376,718...14,381,747 		JBrowse link
acrodysostosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fam20a FAM20A golgi associated secretory pathway pseudokinase ISO ClinVar Annotator: match by term: Acrodysostosis ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955478:4,182,568...4,236,819
Ensembl chrNW_004955478:4,182,568...4,236,819 		JBrowse link
G Pde4d phosphodiesterase 4D ISO ClinVar Annotator: match by term: Acrodysostosis ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955446:7,914,326...9,252,527
Ensembl chrNW_004955446:8,211,877...9,252,653 		JBrowse link
G Prkar1a protein kinase cAMP-dependent type I regulatory subunit alpha ISO ClinVar Annotator: match by term: Acrodysostosis | ClinVar Annotator: match by term: Peripheral dysostosis-nasal hypoplasia-mental retardation (PNM) syndrome ClinVar PMID:11115848 PMID:15371594 PMID:18241045 PMID:19293268 PMID:21651393 More... NCBI chrNW_004955478:4,241,283...4,262,119
Ensembl chrNW_004955478:4,241,283...4,263,087 		JBrowse link
Acrodysostosis 1, with or without Hormone Resistance term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prkar1a protein kinase cAMP-dependent type I regulatory subunit alpha ISO ClinVar Annotator: match by term: Acrodysostosis 1 with or without hormone resistance OMIM
ClinVar		 PMID:11115848 PMID:11200992 PMID:15371594 PMID:18241045 PMID:19293268 More... NCBI chrNW_004955478:4,241,283...4,262,119
Ensembl chrNW_004955478:4,241,283...4,263,087 		JBrowse link
Acrodysostosis 2, with or without Hormone Resistance term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Depdc1b DEP domain containing 1B ISO ClinVar Annotator: match by term: Acrodysostosis 2 with or without hormone resistance ClinVar PMID:21681106 PMID:24203977 NCBI chrNW_004955446:7,792,778...7,857,218
Ensembl chrNW_004955446:7,792,756...7,858,615 		JBrowse link
G Pde4d phosphodiesterase 4D ISO ClinVar Annotator: match by term: Acrodysostosis 2 with or without hormone resistance | ClinVar Annotator: match by term: PDE4D-related condition OMIM
ClinVar		 PMID:11200992 PMID:12121997 PMID:15025561 PMID:21681106 PMID:22464250 More... NCBI chrNW_004955446:7,914,326...9,252,527
Ensembl chrNW_004955446:8,211,877...9,252,653 		JBrowse link
acromesomelic dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gdf5 growth differentiation factor 5 ISO ClinVar Annotator: match by term: Acromesomelic dwarfism | ClinVar Annotator: match by term: Acromesomelic dysplasia ClinVar PMID:28492532 NCBI chrNW_004955422:25,992,081...25,997,122
Ensembl chrNW_004955422:25,992,081...25,997,122 		JBrowse link
G Npr2 natriuretic peptide receptor 2 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia ClinVar PMID:28492532 NCBI chrNW_004955472:506,351...523,647
Ensembl chrNW_004955472:506,351...523,316 		JBrowse link
acromesomelic dysplasia, Grebe type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gdf5 growth differentiation factor 5 ISO ClinVar Annotator: match by term: Grebe syndrome OMIM
ClinVar		 PMID:9288098 PMID:12124730 PMID:12900894 PMID:17384641 PMID:25741868 More... NCBI chrNW_004955422:25,992,081...25,997,122
Ensembl chrNW_004955422:25,992,081...25,997,122 		JBrowse link
acromesomelic dysplasia, Hunter-Thompson type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bmpr1b bone morphogenetic protein receptor type 1B ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 2C, Hunter-Thompson type ClinVar PMID:29322508 NCBI chrNW_004955405:5,408,171...5,784,930
Ensembl chrNW_004955405:5,700,162...5,787,957 		JBrowse link
G Gdf5 growth differentiation factor 5 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 2C, Hunter-Thompson type | ClinVar Annotator: match by term: Acromesomelic dysplasia, Hunter-Thompson type OMIM
ClinVar		 PMID:2703235 PMID:8589725 PMID:17384641 PMID:25741868 PMID:28492532 NCBI chrNW_004955422:25,992,081...25,997,122
Ensembl chrNW_004955422:25,992,081...25,997,122 		JBrowse link
acromesomelic dysplasia, Maroteaux type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aptx aprataxin ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004955472:2,645,716...2,664,394
Ensembl chrNW_004955472:2,652,869...2,664,272 		JBrowse link
G Aqp3 aquaporin 3 (Gill blood group) ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004955472:2,234,770...2,239,753
Ensembl chrNW_004955472:2,234,770...2,240,027 		JBrowse link
G Aqp7 aquaporin 7 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004955472:2,283,426...2,297,251 JBrowse link
G Arhgef39 Rho guanine nucleotide exchange factor 39 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004955472:633,474...636,440
Ensembl chrNW_004955472:633,405...640,305 		JBrowse link
G Arid3c AT-rich interaction domain 3C ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004955472:1,503,448...1,510,965
Ensembl chrNW_004955472:1,504,032...1,510,590 		JBrowse link
G Atosb atos homolog B ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004955472:1,066,661...1,077,960
Ensembl chrNW_004955472:1,071,615...1,077,960 		JBrowse link
G B4galt1 beta-1,4-galactosyltransferase 1 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004955472:2,490,649...2,536,053
Ensembl chrNW_004955472:2,490,661...2,536,317 		JBrowse link
G Bag1 BAG cochaperone 1 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004955472:2,394,317...2,405,199 JBrowse link
G Ca9 carbonic anhydrase 9 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004955472:619,084...625,570
Ensembl chrNW_004955472:619,245...625,051 		JBrowse link
G Ccdc107 coiled-coil domain containing 107 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004955472:636,633...640,198
Ensembl chrNW_004955472:633,405...640,175 		JBrowse link
G Ccin calicin ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004958151:6...1,111 JBrowse link
G Ccl19 C-C motif chemokine ligand 19 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004955472:1,444,598...1,446,488
Ensembl chrNW_004955472:1,444,316...1,446,490 		JBrowse link
G Ccl21 C-C motif chemokine ligand 21 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004955472:1,427,660...1,428,771
Ensembl chrNW_004955472:1,427,710...1,429,102 		JBrowse link
G Ccl27 C-C motif chemokine ligand 27 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004955472:1,470,407...1,474,800
Ensembl chrNW_004955472:1,471,551...1,474,777 		JBrowse link
G Cd72 CD72 molecule ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004955472:663,451...670,890 JBrowse link
G Cimip2b ciliary microtubule inner protein 2B ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004955472:695,955...698,086
Ensembl chrNW_004955472:696,157...697,922 		JBrowse link
G Clta clathrin light chain A ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004955472:96,958...117,230
Ensembl chrNW_004955472:97,235...117,144 		JBrowse link
G Cntfr ciliary neurotrophic factor receptor ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004955472:1,540,973...1,577,734
Ensembl chrNW_004955472:1,540,973...1,579,947 		JBrowse link
G Creb3 cAMP responsive element binding protein 3 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004955472:564,227...568,708
Ensembl chrNW_004955472:564,493...568,491 		JBrowse link
G Dcaf12 DDB1 and CUL4 associated factor 12 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004955472:1,943,477...1,974,938
Ensembl chrNW_004955472:1,943,477...1,974,938 		JBrowse link
G Dctn3 dynactin subunit 3 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004955472:1,511,984...1,521,148
Ensembl chrNW_004955472:1,511,937...1,521,494 		JBrowse link
G Dnai1 dynein axonemal intermediate chain 1 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004955472:1,599,265...1,668,214
Ensembl chrNW_004955472:1,599,493...1,668,024 		JBrowse link
G Dnaja1 DnaJ heat shock protein family (Hsp40) member A1 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004955472:2,604,002...2,618,033
Ensembl chrNW_004955472:2,604,002...2,618,033 		JBrowse link
G Dnajb5 DnaJ heat shock protein family (Hsp40) member B5 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004955472:1,168,568...1,177,849
Ensembl chrNW_004955472:1,167,160...1,178,726 		JBrowse link
G Enho energy homeostasis associated ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004955472:1,597,488...1,599,274
Ensembl chrNW_004955472:1,503,498...1,599,274 		JBrowse link
G Exosc3 exosome component 3 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004955419:28,683,896...28,692,006
Ensembl chrNW_004955419:28,683,896...28,693,395 		JBrowse link
G Fam219a family with sequence similarity 219 member A ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004955472:1,668,400...1,718,194
Ensembl chrNW_004955472:1,668,431...1,718,187 		JBrowse link
G Fam221b family with sequence similarity 221 member B ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004955472:489,530...497,224
Ensembl chrNW_004955472:491,251...497,186 		JBrowse link
G Fancg FA complementation group G ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004955472:1,097,986...1,105,836
Ensembl chrNW_004955472:1,098,839...1,104,911 		JBrowse link
G Fbxo10 F-box protein 10 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004955419:28,915,083...28,969,374
Ensembl chrNW_004955419:28,897,288...28,969,374 		JBrowse link
G Frmpd1 FERM and PDZ domain containing 1 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004955419:28,717,277...28,888,486
Ensembl chrNW_004955419:28,716,494...28,888,495 		JBrowse link
G Galt galactose-1-phosphate uridylyltransferase ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004955472:1,487,173...1,490,548
Ensembl chrNW_004955472:1,487,173...1,490,986 		JBrowse link
G Gba2 glucosylceramidase beta 2 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004955472:553,556...564,411
Ensembl chrNW_004955472:553,556...564,411 		JBrowse link
G Glipr2 GLI pathogenesis related 2 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004955472:191,886...201,551
Ensembl chrNW_004955472:189,858...201,549 		JBrowse link
G Gne glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004955472:56,623...92,553
Ensembl chrNW_004955472:45,926...97,082 		JBrowse link
G Grhpr glyoxylate and hydroxypyruvate reductase ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004955419:29,032,591...29,044,046
Ensembl chrNW_004955419:29,032,600...29,044,257 		JBrowse link
G Hint2 histidine triad nucleotide binding protein 2 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004955472:500,845...503,067 JBrowse link
G Il11ra interleukin 11 receptor subunit alpha ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004955472:1,474,802...1,485,352
Ensembl chrNW_004955472:1,475,178...1,482,206 		JBrowse link
G Kif24 kinesin family member 24 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004955472:1,774,850...1,868,525
Ensembl chrNW_004955472:1,792,520...1,860,056 		JBrowse link
G LOC102009376 olfactory receptor 13J1 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004955472:452,846...454,056
Ensembl chrNW_004955472:452,944...453,879 		JBrowse link
G Melk maternal embryonic leucine zipper kinase ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004955419:29,718,291...29,815,163
Ensembl chrNW_004955419:29,717,978...29,815,170 		JBrowse link
G Msmp microseminoprotein, prostate associated ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004955472:549,115...550,247
Ensembl chrNW_004955472:549,115...550,247 		JBrowse link
G Myorg myogenesis regulating glycosidase (putative) ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004955472:1,735,292...1,740,304
Ensembl chrNW_004955472:1,735,292...1,740,304 		JBrowse link
G Ndufb6 NADH:ubiquinone oxidoreductase subunit B6 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004955472:3,054,026...3,064,530
Ensembl chrNW_004955472:3,054,154...3,064,433 		JBrowse link
G Nfx1 nuclear transcription factor, X-box binding 1 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004955472:2,306,961...2,371,597
Ensembl chrNW_004955472:2,307,682...2,371,433 		JBrowse link
G Nol6 nucleolar protein 6 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004955472:2,210,490...2,225,275
Ensembl chrNW_004955472:2,211,079...2,224,259 		JBrowse link
G Npr2 natriuretic peptide receptor 2 ISO 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 OMIM
ClinVar		 PMID:9536098 PMID:15146390 PMID:15572448 PMID:16199547 PMID:16384845 More... NCBI chrNW_004955472:506,351...523,647
Ensembl chrNW_004955472:506,351...523,316 		JBrowse link
G Nudt2 nudix hydrolase 2 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004955472:1,760,046...1,774,539
Ensembl chrNW_004955472:1,759,900...1,774,539 		JBrowse link
G Pax5 paired box 5 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004955419:29,395,631...29,577,272
Ensembl chrNW_004955419:29,395,389...29,570,952 		JBrowse link
G Phf24 PHD finger protein 24 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004955472:1,186,021...1,204,018
Ensembl chrNW_004955472:1,185,110...1,204,040 		JBrowse link
G Pigo phosphatidylinositol glycan anchor biosynthesis class O ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004955472:1,084,932...1,094,243
Ensembl chrNW_004955472:1,084,932...1,094,243 		JBrowse link
G Polr1e RNA polymerase I subunit E ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004955419:28,970,982...28,983,862
Ensembl chrNW_004955419:28,967,083...28,983,862 		JBrowse link
G Reck reversion inducing cysteine rich protein with kazal motifs ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004955472:222,261...276,869
Ensembl chrNW_004955472:223,683...287,089 		JBrowse link
G Rgp1 RGP1 homolog, RAB6A GEF complex partner 1 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004955472:550,198...554,038
Ensembl chrNW_004955472:550,198...554,038 		JBrowse link
G Rigi RNA sensor RIG-I ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004955472:3,093,895...3,135,524
Ensembl chrNW_004955472:3,093,939...3,133,987 		JBrowse link
G Rnf38 ring finger protein 38 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004955419:29,903,917...30,063,705
Ensembl chrNW_004955419:29,993,358...30,063,705 		JBrowse link
G Rpp25l ribonuclease P/MRP subunit p25 like ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004955472:1,521,651...1,522,599 JBrowse link
G Rusc2 RUN and SH3 domain containing 2 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004955472:698,021...742,966
Ensembl chrNW_004955472:698,513...741,758 		JBrowse link
G Sigmar1 sigma non-opioid intracellular receptor 1 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004955472:1,493,896...1,496,377
Ensembl chrNW_004955472:1,493,896...1,496,377 		JBrowse link
G Sit1 signaling threshold regulating transmembrane adaptor 1 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004955472:643,923...645,802 JBrowse link
G Smu1 SMU1 DNA replication regulator and spliceosomal factor ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004955472:2,570,248...2,600,551
Ensembl chrNW_004955472:2,570,340...2,600,146 		JBrowse link
G Spag8 sperm associated antigen 8 ISO 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 ClinVar PMID:15146390 PMID:15572448 PMID:16199547 PMID:16384845 PMID:18945719 More... NCBI chrNW_004955472:503,286...506,261
Ensembl chrNW_004955472:504,087...505,835 		JBrowse link
G Spata31g1 SPATA31 subfamily G member 1 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004958072:16...1,146 JBrowse link
G Spink4 serine peptidase inhibitor Kazal type 4 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004955472:2,406,279...2,415,668
Ensembl chrNW_004955472:2,406,279...2,415,668 		JBrowse link
G Spmip6 sperm microtubule inner protein 6 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004955472:1,718,474...1,733,980
Ensembl chrNW_004955472:1,718,517...1,735,004 		JBrowse link
G Stoml2 stomatin like 2 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004955472:1,079,261...1,082,632
Ensembl chrNW_004955472:1,079,578...1,082,486 		JBrowse link
G Tesk1 testis associated actin remodelling kinase 1 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004955472:670,847...676,060
Ensembl chrNW_004955472:668,352...699,620 		JBrowse link
G Tln1 talin 1 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004955472:568,939...603,676
Ensembl chrNW_004955472:568,939...603,676 		JBrowse link
G Tmem215 transmembrane protein 215 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004955472:2,875,398...2,879,115
Ensembl chrNW_004955472:2,875,398...2,879,115 		JBrowse link
G Tmem8b transmembrane protein 8B ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004955472:467,027...489,287
Ensembl chrNW_004955472:467,492...488,892 		JBrowse link
G Tomm5 translocase of outer mitochondrial membrane 5 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004955419:28,897,328...28,900,289 JBrowse link
G Topors TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004955472:3,073,090...3,076,607 JBrowse link
G Tpm2 tropomyosin 2 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004955472:611,079...617,823
Ensembl chrNW_004955472:611,028...617,821 		JBrowse link
G Trmt10b tRNA methyltransferase 10B ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004955419:28,693,509...28,720,006
Ensembl chrNW_004955419:28,693,821...28,713,349 		JBrowse link
G Ubap1 ubiquitin associated protein 1 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004955472:1,860,476...1,903,478
Ensembl chrNW_004955472:1,860,476...1,903,478 		JBrowse link
G Ubap2 ubiquitin associated protein 2 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004955472:2,044,397...2,100,904
Ensembl chrNW_004955472:2,020,232...2,100,155 		JBrowse link
G Vcp valosin containing protein ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004955472:1,111,649...1,124,076
Ensembl chrNW_004955472:1,107,164...1,124,076 		JBrowse link
G Zbtb5 zinc finger and BTB domain containing 5 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004955419:29,000,070...29,032,446
Ensembl chrNW_004955419:29,001,265...29,032,446 		JBrowse link
G Zcchc7 zinc finger CCHC-type containing 7 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004955419:29,108,905...29,339,602
Ensembl chrNW_004955419:29,108,644...29,334,670 		JBrowse link
acromesomelic dysplasia-3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bmpr1b bone morphogenetic protein receptor type 1B ISO 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 OMIM
ClinVar		 PMID:15805157 PMID:22374147 PMID:24129431 PMID:25741868 PMID:25758993 More... NCBI chrNW_004955405:5,408,171...5,784,930
Ensembl chrNW_004955405:5,700,162...5,787,957 		JBrowse link
acromesomelic dysplasia-4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prkg2 protein kinase cGMP-dependent 2 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 4 OMIM
ClinVar		 PMID:25741868 PMID:33106379 PMID:34782440 NCBI chrNW_004955433:5,286,594...5,387,571
Ensembl chrNW_004955433:5,286,153...5,491,924 		JBrowse link
acromicric dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adamtsl2 ADAMTS like 2 ISO ClinVar Annotator: match by term: Geleophysic dwarfism ClinVar PMID:24014090 PMID:25741868 PMID:26879370 PMID:33369194 PMID:36474027 NCBI chrNW_004955513:2,849,310...2,879,130
Ensembl chrNW_004955513:2,849,271...2,879,848 		JBrowse link
G Fbn1 fibrillin 1 ISO 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		 OMIM
ClinVar		 PMID:627879 PMID:948948 PMID:960337 PMID:1852206 PMID:2005308 More... NCBI chrNW_004955409:5,281,603...5,502,547
Ensembl chrNW_004955409:5,281,603...5,504,761 		JBrowse link
G Smad2 SMAD family member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18677313 NCBI chrNW_004955402:33,131,760...33,217,144
Ensembl chrNW_004955402:33,136,778...33,216,844 		JBrowse link
G Tgfb1 transforming growth factor beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18677313 NCBI chrNW_004955555:274,405...288,441
Ensembl chrNW_004955555:270,652...288,441 		JBrowse link
Anadysplasia-Like, Spontaneously Remitting Spondylometaphyseal Dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lbr lamin B receptor ISO ClinVar Annotator: match by term: Anadysplasia-like, spontaneously remitting spondylometaphyseal dysplasia ClinVar PMID:18382993 PMID:25348816 PMID:25741868 PMID:28492532 NCBI chrNW_004955520:401,733...418,279 JBrowse link
anauxetic dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arhgef39 Rho guanine nucleotide exchange factor 39 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chrNW_004955472:633,474...636,440
Ensembl chrNW_004955472:633,405...640,305 		JBrowse link
G Arid3c AT-rich interaction domain 3C ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chrNW_004955472:1,503,448...1,510,965
Ensembl chrNW_004955472:1,504,032...1,510,590 		JBrowse link
G Atosb atos homolog B ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chrNW_004955472:1,066,661...1,077,960
Ensembl chrNW_004955472:1,071,615...1,077,960 		JBrowse link
G Ca9 carbonic anhydrase 9 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chrNW_004955472:619,084...625,570
Ensembl chrNW_004955472:619,245...625,051 		JBrowse link
G Ccdc107 coiled-coil domain containing 107 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:8034306 PMID:8444246 PMID:9156319 PMID:10026268 PMID:11207361 More... NCBI chrNW_004955472:636,633...640,198
Ensembl chrNW_004955472:633,405...640,175 		JBrowse link
G Ccin calicin ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chrNW_004958151:6...1,111 JBrowse link
G Ccl19 C-C motif chemokine ligand 19 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chrNW_004955472:1,444,598...1,446,488
Ensembl chrNW_004955472:1,444,316...1,446,490 		JBrowse link
G Ccl21 C-C motif chemokine ligand 21 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chrNW_004955472:1,427,660...1,428,771
Ensembl chrNW_004955472:1,427,710...1,429,102 		JBrowse link
G Ccl27 C-C motif chemokine ligand 27 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chrNW_004955472:1,470,407...1,474,800
Ensembl chrNW_004955472:1,471,551...1,474,777 		JBrowse link
G Cd72 CD72 molecule ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chrNW_004955472:663,451...670,890 JBrowse link
G Cimip2b ciliary microtubule inner protein 2B ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chrNW_004955472:695,955...698,086
Ensembl chrNW_004955472:696,157...697,922 		JBrowse link
G Clta clathrin light chain A ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chrNW_004955472:96,958...117,230
Ensembl chrNW_004955472:97,235...117,144 		JBrowse link
G Cntfr ciliary neurotrophic factor receptor ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chrNW_004955472:1,540,973...1,577,734
Ensembl chrNW_004955472:1,540,973...1,579,947 		JBrowse link
G Creb3 cAMP responsive element binding protein 3 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chrNW_004955472:564,227...568,708
Ensembl chrNW_004955472:564,493...568,491 		JBrowse link
G Dctn3 dynactin subunit 3 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chrNW_004955472:1,511,984...1,521,148
Ensembl chrNW_004955472:1,511,937...1,521,494 		JBrowse link
G Dnai1 dynein axonemal intermediate chain 1 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chrNW_004955472:1,599,265...1,668,214
Ensembl chrNW_004955472:1,599,493...1,668,024 		JBrowse link
G Dnajb5 DnaJ heat shock protein family (Hsp40) member B5 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chrNW_004955472:1,168,568...1,177,849
Ensembl chrNW_004955472:1,167,160...1,178,726 		JBrowse link
G Enho energy homeostasis associated ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chrNW_004955472:1,597,488...1,599,274
Ensembl chrNW_004955472:1,503,498...1,599,274 		JBrowse link
G Fam219a family with sequence similarity 219 member A ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chrNW_004955472:1,668,400...1,718,194
Ensembl chrNW_004955472:1,668,431...1,718,187 		JBrowse link
G Fam221b family with sequence similarity 221 member B ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chrNW_004955472:489,530...497,224
Ensembl chrNW_004955472:491,251...497,186 		JBrowse link
G Fancg FA complementation group G ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chrNW_004955472:1,097,986...1,105,836
Ensembl chrNW_004955472:1,098,839...1,104,911 		JBrowse link
G Galt galactose-1-phosphate uridylyltransferase ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chrNW_004955472:1,487,173...1,490,548
Ensembl chrNW_004955472:1,487,173...1,490,986 		JBrowse link
G Gba2 glucosylceramidase beta 2 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chrNW_004955472:553,556...564,411
Ensembl chrNW_004955472:553,556...564,411 		JBrowse link
G Glipr2 GLI pathogenesis related 2 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chrNW_004955472:191,886...201,551
Ensembl chrNW_004955472:189,858...201,549 		JBrowse link
G Gne glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chrNW_004955472:56,623...92,553
Ensembl chrNW_004955472:45,926...97,082 		JBrowse link
G Hint2 histidine triad nucleotide binding protein 2 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chrNW_004955472:500,845...503,067 JBrowse link
G Il11ra interleukin 11 receptor subunit alpha ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chrNW_004955472:1,474,802...1,485,352
Ensembl chrNW_004955472:1,475,178...1,482,206 		JBrowse link
G LOC102009376 olfactory receptor 13J1 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chrNW_004955472:452,846...454,056
Ensembl chrNW_004955472:452,944...453,879 		JBrowse link
G Msmp microseminoprotein, prostate associated ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chrNW_004955472:549,115...550,247
Ensembl chrNW_004955472:549,115...550,247 		JBrowse link
G Myorg myogenesis regulating glycosidase (putative) ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chrNW_004955472:1,735,292...1,740,304
Ensembl chrNW_004955472:1,735,292...1,740,304 		JBrowse link
G Npr2 natriuretic peptide receptor 2 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chrNW_004955472:506,351...523,647
Ensembl chrNW_004955472:506,351...523,316 		JBrowse link
G Phf24 PHD finger protein 24 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chrNW_004955472:1,186,021...1,204,018
Ensembl chrNW_004955472:1,185,110...1,204,040 		JBrowse link
G Pigo phosphatidylinositol glycan anchor biosynthesis class O ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chrNW_004955472:1,084,932...1,094,243
Ensembl chrNW_004955472:1,084,932...1,094,243 		JBrowse link
G Reck reversion inducing cysteine rich protein with kazal motifs ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chrNW_004955472:222,261...276,869
Ensembl chrNW_004955472:223,683...287,089 		JBrowse link
G Rgp1 RGP1 homolog, RAB6A GEF complex partner 1 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chrNW_004955472:550,198...554,038
Ensembl chrNW_004955472:550,198...554,038 		JBrowse link
G Rpp25l ribonuclease P/MRP subunit p25 like ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chrNW_004955472:1,521,651...1,522,599 JBrowse link
G Rusc2 RUN and SH3 domain containing 2 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chrNW_004955472:698,021...742,966
Ensembl chrNW_004955472:698,513...741,758 		JBrowse link
G Sigmar1 sigma non-opioid intracellular receptor 1 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chrNW_004955472:1,493,896...1,496,377
Ensembl chrNW_004955472:1,493,896...1,496,377 		JBrowse link
G Sit1 signaling threshold regulating transmembrane adaptor 1 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chrNW_004955472:643,923...645,802 JBrowse link
G Spag8 sperm associated antigen 8 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chrNW_004955472:503,286...506,261
Ensembl chrNW_004955472:504,087...505,835 		JBrowse link
G Spata31g1 SPATA31 subfamily G member 1 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chrNW_004958072:16...1,146 JBrowse link
G Spmip6 sperm microtubule inner protein 6 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chrNW_004955472:1,718,474...1,733,980
Ensembl chrNW_004955472:1,718,517...1,735,004 		JBrowse link
G Stoml2 stomatin like 2 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chrNW_004955472:1,079,261...1,082,632
Ensembl chrNW_004955472:1,079,578...1,082,486 		JBrowse link
G Tesk1 testis associated actin remodelling kinase 1 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chrNW_004955472:670,847...676,060
Ensembl chrNW_004955472:668,352...699,620 		JBrowse link
G Tln1 talin 1 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chrNW_004955472:568,939...603,676
Ensembl chrNW_004955472:568,939...603,676 		JBrowse link
G Tmem8b transmembrane protein 8B ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chrNW_004955472:467,027...489,287
Ensembl chrNW_004955472:467,492...488,892 		JBrowse link
G Tpm2 tropomyosin 2 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chrNW_004955472:611,079...617,823
Ensembl chrNW_004955472:611,028...617,821 		JBrowse link
G Vcp valosin containing protein ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chrNW_004955472:1,111,649...1,124,076
Ensembl chrNW_004955472:1,107,164...1,124,076 		JBrowse link
anauxetic dysplasia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc107 coiled-coil domain containing 107 ISO ClinVar Annotator: match by term: Spondylometaepiphyseal dysplasia Menger type ClinVar PMID:8034306 PMID:8444246 PMID:9156319 PMID:10026268 PMID:11207361 More... NCBI chrNW_004955472:636,633...640,198
Ensembl chrNW_004955472:633,405...640,175 		JBrowse link
G Pop1 POP1 homolog, ribonuclease P/MRP subunit ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004955417:13,823,027...13,856,448
Ensembl chrNW_004955417:13,823,057...13,856,448 		JBrowse link
anauxetic dysplasia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pop1 POP1 homolog, ribonuclease P/MRP subunit ISO ClinVar Annotator: match by term: Anauxetic dysplasia 2 | ClinVar Annotator: match by term: POP1-related condition OMIM
ClinVar		 PMID:21455487 PMID:21534943 PMID:25741868 PMID:27380734 PMID:28067412 More... NCBI chrNW_004955417:13,823,027...13,856,448
Ensembl chrNW_004955417:13,823,057...13,856,448 		JBrowse link
anauxetic dysplasia 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nepro nucleolus and neural progenitor protein ISO ClinVar Annotator: match by term: Anauxetic dysplasia 3 OMIM
ClinVar		 PMID:25741868 PMID:26633546 PMID:29620724 PMID:31250547 NCBI chrNW_004955427:13,232,375...13,247,164
Ensembl chrNW_004955427:13,233,970...13,248,013 		JBrowse link
asphyxiating thoracic dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Angptl5 angiopoietin like 5 ISO ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar PMID:23339108 PMID:24781753 PMID:28492532 PMID:31413057 PMID:32753734 NCBI chrNW_004955412:5,236,268...5,254,866 JBrowse link
G B9d1 B9 domain containing 1 ISO ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar PMID:25741868 NCBI chrNW_004955467:405,487...415,887
Ensembl chrNW_004955467:405,490...416,116 		JBrowse link
G Birc2 baculoviral IAP repeat containing 2 ISO ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar PMID:23339108 PMID:24781753 PMID:28492532 PMID:31413057 PMID:32753734 NCBI chrNW_004955412:5,658,322...5,685,628
Ensembl chrNW_004955412:5,659,478...5,685,114 		JBrowse link
G Birc3 baculoviral IAP repeat containing 3 ISO ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar PMID:23339108 PMID:24781753 PMID:28492532 PMID:31413057 PMID:32753734 NCBI chrNW_004955412:5,624,865...5,643,520
Ensembl chrNW_004955412:5,628,973...5,643,410 		JBrowse link
G C2cd3 C2 domain containing 3 centriole elongation regulator ISO ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar PMID:25741868 PMID:26092869 NCBI chrNW_004955414:17,444,299...17,557,912
Ensembl chrNW_004955414:17,444,515...17,558,245 		JBrowse link
G Cep120 centrosomal protein 120 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004955521:1,452,514...1,504,763
Ensembl chrNW_004955521:1,454,102...1,504,763 		JBrowse link
G Cep126 centrosomal protein 126 ISO ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar PMID:23339108 PMID:24781753 PMID:28492532 PMID:31413057 PMID:32753734 NCBI chrNW_004955412:5,262,018...5,319,275
Ensembl chrNW_004955412:5,262,018...5,318,665 		JBrowse link
G Cfap300 cilia and flagella associated protein 300 ISO ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar PMID:23339108 PMID:24781753 PMID:28492532 PMID:31413057 PMID:32753734 NCBI chrNW_004955412:5,368,983...5,399,406
Ensembl chrNW_004955412:5,368,495...5,400,305 		JBrowse link
G Cilk1 ciliogenesis associated kinase 1 ISO ClinVar Annotator: match by term: Short rib-polydactyly syndrome ClinVar PMID:27466187 NCBI chrNW_004955411:2,997,726...3,065,106
Ensembl chrNW_004955411:3,019,525...3,068,090 		JBrowse link
G Col2a1 collagen type II alpha 1 chain ISO ClinVar Annotator: match by term: Short ribs ClinVar PMID:7695699 PMID:8218237 PMID:9016532 PMID:17078022 PMID:19344236 More... NCBI chrNW_004955500:6,860,771...6,885,466
Ensembl chrNW_004955500:6,860,771...6,885,473 		JBrowse link
G Csrnp3 cysteine and serine rich nuclear protein 3 ISO ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More... NCBI chrNW_004955449:8,450,292...8,635,393
Ensembl chrNW_004955449:8,460,577...8,635,417 		JBrowse link
G Dcun1d5 defective in cullin neddylation 1 domain containing 5 ISO ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar PMID:23339108 PMID:24781753 PMID:28492532 PMID:31413057 PMID:32753734 NCBI chrNW_004955412:6,185,858...6,217,935
Ensembl chrNW_004955412:6,185,858...6,217,935 		JBrowse link
G Dync2h1 dynein cytoplasmic 2 heavy chain 1 ISO ClinVar Annotator: match by term: Jeune thoracic dystrophy | ClinVar Annotator: match by term: Short rib-polydactyly syndrome ClinVar PMID:6938784 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19361615 More... NCBI chrNW_004955412:6,267,726...6,518,888
Ensembl chrNW_004955412:6,268,214...6,518,468 		JBrowse link
G Dync2i1 dynein 2 intermediate chain 1 ISO ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar PMID:25741868 PMID:28492532 PMID:29068549 NCBI chrNW_004955579:1,056,291...1,124,623
Ensembl chrNW_004955579:1,057,680...1,124,225 		JBrowse link
G Dync2i2 dynein 2 intermediate chain 2 ISO ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar PMID:19610081 PMID:24183451 PMID:25741868 PMID:28492532 PMID:29068549 More... NCBI chrNW_004955570:1,076,498...1,086,629
Ensembl chrNW_004955570:1,076,568...1,086,613 		JBrowse link
G Dync2li1 dynein cytoplasmic 2 light intermediate chain 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004955441:10,928,577...10,961,194
Ensembl chrNW_004955441:10,928,343...10,961,194 		JBrowse link
G Dynlt2b dynein light chain Tctex-type 2B ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004955420:12,515,195...12,528,863
Ensembl chrNW_004955420:12,515,195...12,528,861 		JBrowse link
G Evc2 EvC ciliary complex subunit 2 ISO ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar PMID:16199547 PMID:17024374 PMID:19251731 PMID:19810119 PMID:19876929 More... NCBI chrNW_004955514:4,332,624...4,430,844
Ensembl chrNW_004955514:4,333,066...4,430,902 		JBrowse link
G Fgfr3 fibroblast growth factor receptor 3 ISO ClinVar Annotator: match by term: Short ribs ClinVar PMID:1908846 PMID:7773297 PMID:8640234 PMID:8858131 PMID:9438390 More... NCBI chrNW_004955514:1,030,244...1,038,590
Ensembl chrNW_004955514:1,025,600...1,038,590 		JBrowse link
G Flvcr1 FLVCR choline and heme transporter 1 ISO ClinVar Annotator: match by term: Jeune thoracic dystrophy | ClinVar Annotator: match by term: Short rib-polydactyly syndrome ClinVar PMID:27666822 NCBI chrNW_004955406:4,673,797...4,702,858
Ensembl chrNW_004955406:4,674,140...4,702,763 		JBrowse link
G Fuz fuzzy planar cell polarity protein ISO ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar PMID:29068549 NCBI chrNW_004955559:1,112,670...1,117,620
Ensembl chrNW_004955559:1,112,855...1,117,413 		JBrowse link
G Galnt3 polypeptide N-acetylgalactosaminyltransferase 3 ISO ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More... NCBI chrNW_004955449:8,365,951...8,406,988
Ensembl chrNW_004955449:8,379,164...8,406,988 		JBrowse link
G Grk2 G protein-coupled receptor kinase 2 ISO ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar PMID:33200460 NCBI chrNW_004955422:18,173,438...18,192,357
Ensembl chrNW_004955422:18,170,616...18,192,412 		JBrowse link
G Ift140 intraflagellar transport 140 ISO ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:22503633 PMID:23418020 More... NCBI chrNW_004955442:15,625,429...15,719,006
Ensembl chrNW_004955442:15,630,501...15,718,484 		JBrowse link
G Ift172 intraflagellar transport 172 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004955469:9,418,599...9,455,026
Ensembl chrNW_004955469:9,418,609...9,455,026 		JBrowse link
G Ift43 intraflagellar transport 43 ISO ClinVar Annotator: match by term: Jeune thoracic dystrophy | ClinVar Annotator: match by term: Short rib-polydactyly syndrome ClinVar PMID:21378380 PMID:25741868 PMID:28400947 PMID:28492532 PMID:29068549 NCBI chrNW_004955438:58,503...144,675
Ensembl chrNW_004955438:58,272...144,730 		JBrowse link
G Ift52 intraflagellar transport 52 ISO ClinVar Annotator: match by term: Jeune thoracic dystrophy | ClinVar Annotator: match by term: Short rib-polydactyly syndrome ClinVar PMID:27466190 PMID:28492532 PMID:29068549 NCBI chrNW_004955445:13,542,726...13,580,204
Ensembl chrNW_004955445:13,543,804...13,580,204 		JBrowse link
G Ift74 intraflagellar transport 74 ISO ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar PMID:29068549 NCBI chrNW_004955472:7,779,705...7,872,423
Ensembl chrNW_004955472:7,775,981...7,872,423 		JBrowse link
G Ift80 intraflagellar transport 80 ISO ClinVar Annotator: match by term: Jeune thoracic dystrophy | ClinVar Annotator: match by term: Short Rib Polydactyly Syndrome ClinVar PMID:9536098 PMID:11727201 PMID:12673792 PMID:16199547 PMID:16385454 More... NCBI chrNW_004955448:10,808,940...10,819,655 JBrowse link
G Ift81 intraflagellar transport 81 ISO ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar PMID:25741868 PMID:26275418 PMID:27666822 PMID:28492532 NCBI chrNW_004955482:7,114,639...7,182,378
Ensembl chrNW_004955482:7,117,774...7,181,834 		JBrowse link
G Ift88 intraflagellar transport 88 ISO ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar PMID:29068549 NCBI chrNW_004955497:1,338,959...1,454,788
Ensembl chrNW_004955497:1,338,904...1,455,122 		JBrowse link
G Intu inturned planar cell polarity protein ISO ClinVar Annotator: match by term: Jeune thoracic dystrophy | ClinVar Annotator: match by term: Short rib-polydactyly syndrome ClinVar PMID:25741868 PMID:27158779 PMID:29068549 NCBI chrNW_004955428:13,670,756...13,743,030
Ensembl chrNW_004955428:13,668,774...13,743,090 		JBrowse link
G Kiaa0586 KIAA0586 ortholog ISO ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar PMID:25741868 NCBI chrNW_004955466:12,125,559...12,240,991
Ensembl chrNW_004955466:12,126,184...12,243,170 		JBrowse link
G Kiaa0753 KIAA0753 ortholog ISO ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar PMID:25741868 PMID:28492532 PMID:29138412 PMID:31816441 PMID:34529350 NCBI chrNW_004955467:12,074,413...12,144,672
Ensembl chrNW_004955467:12,071,435...12,139,485 		JBrowse link
G Lbr lamin B receptor ISO ClinVar Annotator: match by term: Jeune thoracic dystrophy | ClinVar Annotator: match by term: Jeune's syndrome ClinVar PMID:25741868 PMID:28492532 PMID:28600779 PMID:29068549 NCBI chrNW_004955520:401,733...418,279 JBrowse link
G Matn3 matrilin 3 ISO ClinVar Annotator: match by term: Jeune thoracic dystrophy | ClinVar Annotator: match by term: Short rib-polydactyly syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955469:2,548,443...2,568,497
Ensembl chrNW_004955469:2,548,443...2,568,497 		JBrowse link
G Mmp10 matrix metallopeptidase 10 ISO ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar PMID:23339108 PMID:24781753 PMID:28492532 PMID:31413057 PMID:32753734 NCBI chrNW_004955412:5,965,388...5,976,353
Ensembl chrNW_004955412:5,965,394...5,976,382 		JBrowse link
G Mmp12 matrix metallopeptidase 12 ISO ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar PMID:23339108 PMID:24781753 PMID:28492532 PMID:31413057 PMID:32753734 NCBI chrNW_004955412:6,045,146...6,057,112
Ensembl chrNW_004955412:6,045,100...6,057,262 		JBrowse link
G Mmp13 matrix metallopeptidase 13 ISO ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar PMID:23339108 PMID:24781753 PMID:28492532 PMID:31413057 PMID:32753734 NCBI chrNW_004955412:6,106,994...6,118,760
Ensembl chrNW_004955412:6,106,994...6,118,760 		JBrowse link
G Mmp20 matrix metallopeptidase 20 ISO ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar PMID:23339108 PMID:24781753 PMID:28492532 PMID:31413057 PMID:32753734 NCBI chrNW_004955412:5,815,450...5,869,016
Ensembl chrNW_004955412:5,815,450...5,869,016 		JBrowse link
G Mmp27 matrix metallopeptidase 27 ISO ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar PMID:23339108 PMID:24781753 PMID:28492532 PMID:31413057 PMID:32753734 NCBI chrNW_004955412:5,912,877...5,922,463
Ensembl chrNW_004955412:5,912,877...5,922,463 		JBrowse link
G Mmp7 matrix metallopeptidase 7 ISO ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar PMID:23339108 PMID:24781753 PMID:28492532 PMID:31413057 PMID:32753734 NCBI chrNW_004955412:5,780,772...5,792,485
Ensembl chrNW_004955412:5,778,502...5,792,445 		JBrowse link
G Mmp8 matrix metallopeptidase 8 ISO ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar PMID:23339108 PMID:24781753 PMID:28492532 PMID:31413057 PMID:32753734 NCBI chrNW_004955412:5,928,997...5,939,012
Ensembl chrNW_004955412:5,928,997...5,939,012 		JBrowse link
G Nek1 NIMA related kinase 1 ISO ClinVar Annotator: match by term: Jeune thoracic dystrophy | ClinVar Annotator: match by term: Short rib-polydactyly syndrome ClinVar PMID:22499340 PMID:23757202 PMID:25741868 PMID:28492532 PMID:29068549 NCBI chrNW_004955403:36,710,248...36,878,901
Ensembl chrNW_004955403:36,720,162...36,881,891 		JBrowse link
G Rab34 RAB34, member RAS oncogene family ISO ClinVar Annotator: match by term: Jeune's syndrome ClinVar PMID:25741868 PMID:37619988 NCBI chrNW_004955481:4,441,290...4,445,969
Ensembl chrNW_004955481:4,441,407...4,445,969 		JBrowse link
G Scn1a sodium voltage-gated channel alpha subunit 1 ISO ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More... NCBI chrNW_004955449:8,072,910...8,220,763
Ensembl chrNW_004955449:8,160,986...8,221,951 		JBrowse link
G Scn2a sodium voltage-gated channel alpha subunit 2 ISO ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More... NCBI chrNW_004955449:8,722,043...8,846,165
Ensembl chrNW_004955449:8,721,784...8,846,200 		JBrowse link
G Scn3a sodium voltage-gated channel alpha subunit 3 ISO ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More... NCBI chrNW_004955449:8,896,454...9,009,304
Ensembl chrNW_004955449:8,896,454...9,009,304 		JBrowse link
G Scn9a sodium voltage-gated channel alpha subunit 9 ISO ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More... NCBI chrNW_004955449:7,858,156...8,017,569
Ensembl chrNW_004955449:7,923,801...8,017,569 		JBrowse link
G Sltm SAFB like transcription modulator ISO ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar PMID:27666822 NCBI chrNW_004955450:15,691,472...15,748,123
Ensembl chrNW_004955450:15,691,463...15,736,709 		JBrowse link
G Sptan1 spectrin alpha, non-erythrocytic 1 ISO ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar PMID:24183451 PMID:28492532 PMID:29068549 NCBI chrNW_004955570:1,016,510...1,076,499
Ensembl chrNW_004955570:1,016,510...1,076,499 		JBrowse link
G Tmem123 transmembrane protein 123 ISO ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar PMID:23339108 PMID:24781753 PMID:28492532 PMID:31413057 PMID:32753734 NCBI chrNW_004955412:5,690,988...5,741,109 JBrowse link
G Traf3ip1 TRAF3 interacting protein 1 ISO ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar PMID:16199547 PMID:21945076 PMID:26487268 PMID:28492532 PMID:29068549 NCBI chrNW_004955542:2,264,472...2,301,083
Ensembl chrNW_004955542:2,265,901...2,301,215 		JBrowse link
G Trpc6 transient receptor potential cation channel subfamily C member 6 ISO ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar PMID:23339108 PMID:24781753 PMID:28492532 PMID:31413057 PMID:32753734 NCBI chrNW_004955412:4,905,039...5,019,678
Ensembl chrNW_004955412:4,906,650...4,950,525 		JBrowse link
G Ttc21b tetratricopeptide repeat domain 21B ISO 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		 ClinVar PMID:9536098 PMID:15133511 PMID:16199547 PMID:16865694 PMID:17347258 More... NCBI chrNW_004955449:8,242,327...8,306,012
Ensembl chrNW_004955449:8,241,990...8,308,562 		JBrowse link
G Wdr19 WD repeat domain 19 ISO 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 PMID:16199547 PMID:22019273 PMID:23559409 PMID:23683095 PMID:24504730 More... NCBI chrNW_004955443:8,053,847...8,122,918
Ensembl chrNW_004955443:8,053,847...8,123,110 		JBrowse link
G Wdr35 WD repeat domain 35 ISO ClinVar Annotator: match by term: Jeune thoracic dystrophy | ClinVar Annotator: match by term: Short rib-polydactyly syndrome ClinVar PMID:22486404 PMID:24033266 PMID:25741868 PMID:25914204 PMID:27158779 More... NCBI chrNW_004955469:2,484,972...2,546,562
Ensembl chrNW_004955469:2,482,353...2,546,578 		JBrowse link
G Yap1 Yes1 associated transcriptional regulator ISO ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar PMID:23339108 PMID:24781753 PMID:28492532 PMID:31413057 PMID:32753734 NCBI chrNW_004955412:5,423,866...5,533,728
Ensembl chrNW_004955412:5,423,855...5,534,408 		JBrowse link
asphyxiating thoracic dystrophy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcg5 ATP binding cassette subfamily G member 5 ISO ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 1 ClinVar PMID:26077881 NCBI chrNW_004955441:10,964,588...10,987,771
Ensembl chrNW_004955441:10,964,858...10,986,967 		JBrowse link
G Csrnp3 cysteine and serine rich nuclear protein 3 ISO ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome ClinVar PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More... NCBI chrNW_004955449:8,450,292...8,635,393
Ensembl chrNW_004955449:8,460,577...8,635,417 		JBrowse link
G Dync2h1 dynein cytoplasmic 2 heavy chain 1 ISO ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 1 | ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome ClinVar PMID:19442771 PMID:23339108 PMID:23456818 PMID:25741868 PMID:26874042 More... NCBI chrNW_004955412:6,267,726...6,518,888
Ensembl chrNW_004955412:6,268,214...6,518,468 		JBrowse link
G Dync2i1 dynein 2 intermediate chain 1 ISO ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome ClinVar PMID:25741868 PMID:28492532 PMID:29068549 NCBI chrNW_004955579:1,056,291...1,124,623
Ensembl chrNW_004955579:1,057,680...1,124,225 		JBrowse link
G Dync2li1 dynein cytoplasmic 2 light intermediate chain 1 ISO ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 1 ClinVar PMID:9536098 PMID:17576681 PMID:26077881 PMID:26130459 PMID:28492532 More... NCBI chrNW_004955441:10,928,577...10,961,194
Ensembl chrNW_004955441:10,928,343...10,961,194 		JBrowse link
G Evc2 EvC ciliary complex subunit 2 ISO ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome ClinVar PMID:17024374 PMID:19251731 PMID:19810119 PMID:19876929 PMID:28492532 More... NCBI chrNW_004955514:4,332,624...4,430,844
Ensembl chrNW_004955514:4,333,066...4,430,902 		JBrowse link
G Galnt3 polypeptide N-acetylgalactosaminyltransferase 3 ISO ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome ClinVar PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More... NCBI chrNW_004955449:8,365,951...8,406,988
Ensembl chrNW_004955449:8,379,164...8,406,988 		JBrowse link
G Ift140 intraflagellar transport 140 ISO ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome | ClinVar Annotator: match by term: Short-rib thoracic dysplasia 1 with or without polydactyly ClinVar PMID:9536098 PMID:17576681 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004955442:15,625,429...15,719,006
Ensembl chrNW_004955442:15,630,501...15,718,484 		JBrowse link
G Ift172 intraflagellar transport 172 ISO ClinVar Annotator: match by term: Short-rib thoracic dysplasia 1 with or without polydactyly ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955469:9,418,599...9,455,026
Ensembl chrNW_004955469:9,418,609...9,455,026 		JBrowse link
G Ift80 intraflagellar transport 80 ISO ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome ClinVar PMID:9536098 PMID:17576681 PMID:19648123 PMID:25741868 PMID:28492532 More... NCBI chrNW_004955448:10,808,940...10,819,655 JBrowse link
G Lbr lamin B receptor ISO ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome ClinVar PMID:25741868 PMID:28492532 PMID:28600779 PMID:29068549 NCBI chrNW_004955520:401,733...418,279 JBrowse link
G Nek1 NIMA related kinase 1 ISO ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 1 ClinVar PMID:25741868 NCBI chrNW_004955403:36,710,248...36,878,901
Ensembl chrNW_004955403:36,720,162...36,881,891 		JBrowse link
G Rab34 RAB34, member RAS oncogene family ISO ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome ClinVar PMID:25741868 PMID:37619988 NCBI chrNW_004955481:4,441,290...4,445,969
Ensembl chrNW_004955481:4,441,407...4,445,969 		JBrowse link
G Scn1a sodium voltage-gated channel alpha subunit 1 ISO ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome ClinVar PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More... NCBI chrNW_004955449:8,072,910...8,220,763
Ensembl chrNW_004955449:8,160,986...8,221,951 		JBrowse link
G Scn2a sodium voltage-gated channel alpha subunit 2 ISO ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome ClinVar PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More... NCBI chrNW_004955449:8,722,043...8,846,165
Ensembl chrNW_004955449:8,721,784...8,846,200 		JBrowse link
G Scn3a sodium voltage-gated channel alpha subunit 3 ISO ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome ClinVar PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More... NCBI chrNW_004955449:8,896,454...9,009,304
Ensembl chrNW_004955449:8,896,454...9,009,304 		JBrowse link
G Scn9a sodium voltage-gated channel alpha subunit 9 ISO ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome ClinVar PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More... NCBI chrNW_004955449:7,858,156...8,017,569
Ensembl chrNW_004955449:7,923,801...8,017,569 		JBrowse link
G Ttc21b tetratricopeptide repeat domain 21B ISO ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome ClinVar PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More... NCBI chrNW_004955449:8,242,327...8,306,012
Ensembl chrNW_004955449:8,241,990...8,308,562 		JBrowse link
G Wdr19 WD repeat domain 19 ISO ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome ClinVar PMID:22019273 PMID:23559409 PMID:23683095 PMID:25741868 PMID:26275793 More... NCBI chrNW_004955443:8,053,847...8,122,918
Ensembl chrNW_004955443:8,053,847...8,123,110 		JBrowse link
asphyxiating thoracic dystrophy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ift80 intraflagellar transport 80 ISO ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 2 | ClinVar Annotator: match by term: SHORT-RIB THORACIC DYSPLASIA 2 WITH OR WITHOUT POLYDACTYLY OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17468754 PMID:17576681 PMID:19610081 More... NCBI chrNW_004955448:10,808,940...10,819,655 JBrowse link
asphyxiating thoracic dystrophy 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bag3 BAG cochaperone 3 ISO ClinVar Annotator: match by term: Short-rib polydactyly syndrome type I ClinVar PMID:21361913 PMID:23861362 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chrNW_004955551:446,322...468,329
Ensembl chrNW_004955551:446,605...469,207 		JBrowse link
G Dync1h1 dynein cytoplasmic 1 heavy chain 1 ISO ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 3 ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955538:1,388,595...1,458,166
Ensembl chrNW_004955538:1,390,137...1,458,025 		JBrowse link
G Dync2h1 dynein cytoplasmic 2 heavy chain 1 ISO 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 OMIM
ClinVar		 PMID:6938784 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19361615 More... NCBI chrNW_004955412:6,267,726...6,518,888
Ensembl chrNW_004955412:6,268,214...6,518,468 		JBrowse link
G Dync2i1 dynein 2 intermediate chain 1 ISO ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 3 | ClinVar Annotator: match by term: Short-rib thoracic dysplasia 3 with or without polydactyly ClinVar PMID:25741868 PMID:28492532 PMID:29068549 NCBI chrNW_004955579:1,056,291...1,124,623
Ensembl chrNW_004955579:1,057,680...1,124,225 		JBrowse link
G Dync2i2 dynein 2 intermediate chain 2 ISO ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 3 ClinVar PMID:29068549 NCBI chrNW_004955570:1,076,498...1,086,629
Ensembl chrNW_004955570:1,076,568...1,086,613 		JBrowse link
G Dynlt2b dynein light chain Tctex-type 2B ISO ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 3 ClinVar PMID:25741868 NCBI chrNW_004955420:12,515,195...12,528,863
Ensembl chrNW_004955420:12,515,195...12,528,861 		JBrowse link
G Fam98c family with sequence similarity 98 member C ISO ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 3 ClinVar NCBI chrNW_004955468:1,021,711...1,025,566 JBrowse link
G Ift80 intraflagellar transport 80 ISO OMIM:613091 MouseDO NCBI chrNW_004955448:10,808,940...10,819,655 JBrowse link
G Kif24 kinesin family member 24 ISO ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 3 ClinVar NCBI chrNW_004955472:1,774,850...1,868,525
Ensembl chrNW_004955472:1,792,520...1,860,056 		JBrowse link
G Nek1 NIMA related kinase 1 ISO ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 3 | ClinVar Annotator: match by term: Short-rib thoracic dysplasia 3 with or without polydactyly ClinVar PMID:21211617 PMID:25741868 NCBI chrNW_004955403:36,710,248...36,878,901
Ensembl chrNW_004955403:36,720,162...36,881,891 		JBrowse link
G Tmem256 transmembrane protein 256 ISO ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 3 ClinVar NCBI chrNW_004955467:9,520,854...9,522,051
Ensembl chrNW_004955467:9,520,854...9,522,045 		JBrowse link
asphyxiating thoracic dystrophy 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ttc21b tetratricopeptide repeat domain 21B ISO ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 4 | ClinVar Annotator: match by term: SHORT-RIB THORACIC DYSPLASIA 4 WITH OR WITHOUT POLYDACTYLY OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18327258 PMID:18414213 More... NCBI chrNW_004955449:8,242,327...8,306,012
Ensembl chrNW_004955449:8,241,990...8,308,562 		JBrowse link
asphyxiating thoracic dystrophy 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wdr19 WD repeat domain 19 ISO ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 5 | ClinVar Annotator: match by term: SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19430947 PMID:22019273 More... NCBI chrNW_004955443:8,053,847...8,122,918
Ensembl chrNW_004955443:8,053,847...8,123,110 		JBrowse link
atelosteogenesis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc26a2 solute carrier family 26 member 2 ISO ClinVar Annotator: match by term: Atelosteogenesis ClinVar NCBI chrNW_004955415:4,540,302...4,556,360
Ensembl chrNW_004955415:4,540,302...4,556,360 		JBrowse link
Atelosteogenesis Type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Flnb filamin B ISO ClinVar Annotator: match by term: Atelosteogenesis type I | ClinVar Annotator: match by term: Spondylohumerofemoral hypoplasia OMIM
ClinVar		 PMID:14991055 PMID:16752402 PMID:20301736 PMID:22190451 PMID:24624349 More... NCBI chrNW_004955430:7,680,394...7,832,124
Ensembl chrNW_004955430:7,680,394...7,832,124 		JBrowse link
Atelosteogenesis Type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc26a2 solute carrier family 26 member 2 ISO 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 OMIM
ClinVar		 PMID:4644462 PMID:7695699 PMID:7923357 PMID:8218237 PMID:8528239 More... NCBI chrNW_004955415:4,540,302...4,556,360
Ensembl chrNW_004955415:4,540,302...4,556,360 		JBrowse link
Atelosteogenesis Type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Flnb filamin B ISO ClinVar Annotator: match by term: Atelosteogenesis type 3 | ClinVar Annotator: match by term: Atelosteogenesis type III OMIM
ClinVar		 PMID:9536098 PMID:14991055 PMID:17576681 PMID:20301736 PMID:22190451 More... NCBI chrNW_004955430:7,680,394...7,832,124
Ensembl chrNW_004955430:7,680,394...7,832,124 		JBrowse link
autosomal dominant craniodiaphyseal dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sost sclerostin ISO ClinVar Annotator: match by term: Craniodiaphyseal dysplasia, autosomal dominant OMIM
ClinVar		 PMID:17853455 PMID:21221996 PMID:25741868 NCBI chrNW_004955451:17,054,939...17,058,027
Ensembl chrNW_004955451:17,054,939...17,058,027 		JBrowse link
autosomal dominant craniometaphyseal dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ankh ANKH inorganic pyrophosphate transport regulator ISO ClinVar Annotator: match by term: Craniometadiaphyseal dysplasia wormian bone type | ClinVar Annotator: match by term: Craniometaphyseal dysplasia, autosomal dominant OMIM
ClinVar		 PMID:2712793 PMID:11326272 PMID:11326338 PMID:19449425 PMID:20358596 More... NCBI chrNW_004955426:3,992,671...4,130,754
Ensembl chrNW_004955426:3,992,671...4,130,754 		JBrowse link
G Otulin OTU deubiquitinase with linear linkage specificity ISO ClinVar Annotator: match by term: Craniometadiaphyseal dysplasia wormian bone type | ClinVar Annotator: match by term: Craniometaphyseal dysplasia, autosomal dominant ClinVar PMID:2712793 PMID:11326272 PMID:11326338 PMID:19449425 PMID:20358596 More... NCBI chrNW_004955426:3,953,852...3,982,532
Ensembl chrNW_004955426:3,953,933...3,982,175 		JBrowse link
autosomal dominant osteopetrosis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lrp5 LDL receptor related protein 5 ISO ClinVar Annotator: match by term: Autosomal dominant osteopetrosis 1 | ClinVar Annotator: match by term: OSTEOPETROSIS, AUTOSOMAL DOMINANT, TYPE I OMIM
ClinVar		 PMID:1002767 PMID:9536098 PMID:10434540 PMID:11701785 PMID:11719191 More... NCBI chrNW_004955422:17,394,371...17,475,244
Ensembl chrNW_004955422:17,394,371...17,505,763 		JBrowse link
autosomal dominant osteopetrosis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clcn7 chloride voltage-gated channel 7 ISO ClinVar Annotator: match by term: ALBERS-SCHONBERG DISEASE, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Autosomal dominant osteopetrosis 2 OMIM
ClinVar		 PMID:1516225 PMID:9536098 PMID:11468688 PMID:11741829 PMID:14584882 More... NCBI chrNW_004955442:15,762,369...15,791,635
Ensembl chrNW_004955442:15,761,498...15,791,635 		JBrowse link
Autosomal Dominant Osteopetrosis 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Plekhm1 pleckstrin homology and RUN domain containing M1 ISO ClinVar Annotator: match by term: Osteopetrosis, autosomal dominant 3 OMIM
ClinVar		 PMID:17997709 PMID:25741868 NCBI chrNW_004955451:18,043,194...18,079,808
Ensembl chrNW_004955451:18,043,194...18,079,873 		JBrowse link
autosomal recessive craniometaphyseal dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gja1 gap junction protein alpha 1 ISO ClinVar Annotator: match by term: Craniometaphyseal dysplasia, autosomal recessive OMIM
ClinVar		 PMID:11146471 PMID:23951358 PMID:25741868 PMID:28492532 NCBI chrNW_004955436:3,612,533...3,618,095
Ensembl chrNW_004955436:3,612,533...3,618,095 		JBrowse link
autosomal recessive cutis laxa type IC term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ltbp4 latent transforming growth factor beta binding protein 4 ISO 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 OMIM
ClinVar		 PMID:16199547 PMID:19836010 PMID:22829427 PMID:24033266 PMID:25741868 More... NCBI chrNW_004955578:685,960...712,809
Ensembl chrNW_004955578:686,211...712,794 		JBrowse link
autosomal recessive osteopetrosis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc154 coiled-coil domain containing 154 ISO OMIM:259700 MouseDO NCBI chrNW_004955442:15,792,593...15,800,410
Ensembl chrNW_004955442:15,793,049...15,800,364 		JBrowse link
G Plekhm1 pleckstrin homology and RUN domain containing M1 ISO ClinVar Annotator: match by term: Autosomal recessive osteopetrosis 1 ClinVar PMID:35342016 PMID:36195244 NCBI chrNW_004955451:18,043,194...18,079,808
Ensembl chrNW_004955451:18,043,194...18,079,873 		JBrowse link
G Tcirg1 T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 ISO ClinVar Annotator: match by term: Autosomal recessive osteopetrosis 1 | ClinVar Annotator: match by term: Marble bones autosomal recessive | ClinVar Annotator: match by term: TCIRG1-related condition OMIM
ClinVar		 PMID:9506970 PMID:9536098 PMID:10888887 PMID:10942435 PMID:11532986 More... NCBI chrNW_004955422:17,768,469...17,778,976
Ensembl chrNW_004955422:17,768,469...17,779,003 		JBrowse link
autosomal recessive osteopetrosis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tnfsf11 TNF superfamily member 11 ISO ClinVar Annotator: match by term: Autosomal recessive osteopetrosis 2 | ClinVar Annotator: match by term: Osteopetrosis osteoclast-poor OMIM
ClinVar		 PMID:17632511 PMID:20499338 PMID:21541994 PMID:23762088 PMID:25741868 More... NCBI chrNW_004955518:431,401...462,063
Ensembl chrNW_004955518:430,642...462,705 		JBrowse link
autosomal recessive osteopetrosis 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ca2 carbonic anhydrase 2 ISO ClinVar Annotator: match by term: Osteopetrosis with renal tubular acidosis OMIM
ClinVar		 PMID:1301935 PMID:1542674 PMID:1928091 PMID:4624444 PMID:5041390 More... NCBI chrNW_004955417:3,388,110...3,402,798
Ensembl chrNW_004955417:3,386,087...3,402,363 		JBrowse link
autosomal recessive osteopetrosis 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clcn7 chloride voltage-gated channel 7 ISO ClinVar Annotator: match by term: Autosomal recessive osteopetrosis 4 | ClinVar Annotator: match by term: Osteopetrosis infantile malignant 2 OMIM
ClinVar		 PMID:1516225 PMID:11207362 PMID:11468688 PMID:11741829 PMID:14584882 More... NCBI chrNW_004955442:15,762,369...15,791,635
Ensembl chrNW_004955442:15,761,498...15,791,635 		JBrowse link
autosomal recessive osteopetrosis 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ostm1 osteoclastogenesis associated transmembrane protein 1 ISO ClinVar Annotator: match by term: Autosomal recessive osteopetrosis 5 | ClinVar Annotator: match by term: Osteopetrosis infantile malignant 3 OMIM
ClinVar		 PMID:12627228 PMID:16813530 PMID:25741868 PMID:28492532 PMID:28612835 More... NCBI chrNW_004955411:33,168,868...33,205,452
Ensembl chrNW_004955411:33,171,264...33,205,486 		JBrowse link
autosomal recessive osteopetrosis 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Plekhm1 pleckstrin homology and RUN domain containing M1 ISO ClinVar Annotator: match by term: Autosomal recessive osteopetrosis 6 OMIM
ClinVar		 PMID:17404618 PMID:25741868 NCBI chrNW_004955451:18,043,194...18,079,808
Ensembl chrNW_004955451:18,043,194...18,079,873 		JBrowse link
autosomal recessive osteopetrosis 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tnfrsf11a TNF receptor superfamily member 11a ISO ClinVar Annotator: match by term: Autosomal recessive osteoclast-poor osteopetrosis with hypogammaglobulinemia | ClinVar Annotator: match by term: Autosomal recessive osteopetrosis 7 OMIM
ClinVar		 PMID:9536098 PMID:15231021 PMID:17576681 PMID:18606301 PMID:19940926 More... NCBI chrNW_004955402:46,242,329...46,298,157
Ensembl chrNW_004955402:46,264,164...46,296,368 		JBrowse link
autosomal recessive osteopetrosis 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Snx10 sorting nexin 10 ISO ClinVar Annotator: match by term: Autosomal recessive osteopetrosis 8 OMIM
ClinVar		 PMID:22499339 PMID:23123320 PMID:23280965 PMID:25212774 PMID:25590979 More... NCBI chrNW_004955410:28,137,426...28,178,814 JBrowse link
Autosomal Recessive Osteopetrosis 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc4a2 solute carrier family 4 member 2 ISO ClinVar Annotator: match by term: Osteopetrosis, autosomal recessive 9 OMIM
ClinVar		 PMID:25741868 PMID:34668226 NCBI chrNW_004955491:5,498,472...5,513,389
Ensembl chrNW_004955491:5,499,033...5,517,319 		JBrowse link
autosomal recessive spondyloepiphyseal dysplasia tarda term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccn6 cellular communication network factor 6 ISO ClinVar Annotator: match by term: Autosomal recessive spondyloepiphyseal dysplasia tarda ClinVar PMID:10471507 PMID:22791401 PMID:25741868 PMID:28492532 PMID:29258992 NCBI chrNW_004955526:4,501,331...4,525,866
Ensembl chrNW_004955526:4,502,654...4,522,259 		JBrowse link
axial spondylometaphyseal dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cfap410 cilia and flagella associated protein 410 ISO ClinVar Annotator: match by term: Axial SMD | ClinVar Annotator: match by term: Axial spondylometaphyseal dysplasia OMIM
ClinVar		 PMID:11702989 PMID:20503334 PMID:21910225 PMID:23105016 PMID:25741868 More... NCBI chrNW_004955407:41,120,820...41,128,089
Ensembl chrNW_004955407:41,121,048...41,126,996 		JBrowse link
Beemer-Langer syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dync2h1 dynein cytoplasmic 2 heavy chain 1 ISO ClinVar Annotator: match by term: Type IV short rib polydactyly syndrome ClinVar PMID:25741868 PMID:26826164 PMID:28492532 PMID:29068549 NCBI chrNW_004955412:6,267,726...6,518,888
Ensembl chrNW_004955412:6,268,214...6,518,468 		JBrowse link
G Evc2 EvC ciliary complex subunit 2 ISO ClinVar Annotator: match by term: Type IV short rib polydactyly syndrome ClinVar PMID:17024374 PMID:19810119 PMID:19876929 PMID:25741868 PMID:28492532 More... NCBI chrNW_004955514:4,332,624...4,430,844
Ensembl chrNW_004955514:4,333,066...4,430,902 		JBrowse link
G Ift80 intraflagellar transport 80 ISO ClinVar Annotator: match by term: Type IV short rib polydactyly syndrome ClinVar PMID:28492532 PMID:29068549 NCBI chrNW_004955448:10,808,940...10,819,655 JBrowse link
G Nek1 NIMA related kinase 1 ISO ClinVar Annotator: match by term: Type IV short rib polydactyly syndrome ClinVar PMID:25741868 PMID:29068549 NCBI chrNW_004955403:36,710,248...36,878,901
Ensembl chrNW_004955403:36,720,162...36,881,891 		JBrowse link
G Ttc21b tetratricopeptide repeat domain 21B ISO ClinVar Annotator: match by term: Type IV short rib polydactyly syndrome ClinVar PMID:18327258 PMID:21068128 PMID:21258341 PMID:23559409 PMID:24876116 More... NCBI chrNW_004955449:8,242,327...8,306,012
Ensembl chrNW_004955449:8,241,990...8,308,562 		JBrowse link
G Wdr19 WD repeat domain 19 ISO ClinVar Annotator: match by term: Type IV short rib polydactyly syndrome ClinVar PMID:16199547 PMID:22019273 PMID:23559409 PMID:23683095 PMID:26275793 More... NCBI chrNW_004955443:8,053,847...8,122,918
Ensembl chrNW_004955443:8,053,847...8,123,110 		JBrowse link
Beukes hip dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ankrd37 ankyrin repeat domain 37 ISO ClinVar Annotator: match by term: Hip dysplasia, Beukes type ClinVar PMID:25741868 NCBI chrNW_004955403:23,655,501...23,658,069
Ensembl chrNW_004955403:23,655,716...23,658,009 		JBrowse link
G Cfap96 cilia and flagella associated protein 96 ISO ClinVar Annotator: match by term: Hip dysplasia, Beukes type | ClinVar Annotator: match by term: Osteoarthropathy, premature degenerative, of hip ClinVar PMID:25741868 PMID:28492532 PMID:33473208 NCBI chrNW_004955403:23,617,764...23,634,689
Ensembl chrNW_004955403:23,619,399...23,634,731 		JBrowse link
G Ufsp2 UFM1 specific peptidase 2 ISO ClinVar Annotator: match by term: Hip dysplasia, Beukes type | ClinVar Annotator: match by term: Osteoarthropathy, premature degenerative, of hip OMIM
ClinVar		 PMID:2389793 PMID:21228277 PMID:25741868 PMID:26428751 PMID:28492532 More... NCBI chrNW_004955403:23,634,967...23,655,429
Ensembl chrNW_004955403:23,634,924...23,655,429 		JBrowse link
Boomerang dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Flnb filamin B ISO ClinVar Annotator: match by term: Boomerang dysplasia | ClinVar Annotator: match by term: Boomerang-like skeletal dysplasia OMIM
ClinVar		 PMID:12955767 PMID:14991055 PMID:17510210 PMID:25741868 PMID:28492532 NCBI chrNW_004955430:7,680,394...7,832,124
Ensembl chrNW_004955430:7,680,394...7,832,124 		JBrowse link
brachyolmia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ltbp3 latent transforming growth factor beta binding protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25669657 NCBI chrNW_004955422:19,714,161...19,730,344
Ensembl chrNW_004955422:19,714,627...19,729,855 		JBrowse link
G Papss2 3'-phosphoadenosine 5'-phosphosulfate synthase 2 ISO ClinVar Annotator: match by term: Brachyolmia ClinVar PMID:22791835 PMID:23633440 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chrNW_004955425:5,186,232...5,259,080
Ensembl chrNW_004955425:5,187,952...5,258,955 		JBrowse link
G Trpv4 transient receptor potential cation channel subfamily V member 4 ISO ClinVar Annotator: match by term: Brachyolmia | ClinVar Annotator: match by term: Brachyrachia ClinVar PMID:4056805 PMID:8179305 PMID:18587396 PMID:19661060 PMID:19666518 More... NCBI chrNW_004955455:8,744,865...8,781,644
Ensembl chrNW_004955455:8,744,176...8,783,741 		JBrowse link
Brachyolmia Type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trpv4 transient receptor potential cation channel subfamily V member 4 ISO ClinVar Annotator: match by term: Spondyloepiphyseal dysplasia Maroteaux type ClinVar PMID:4056805 PMID:6628444 PMID:8179305 PMID:12884428 PMID:14755468 More... NCBI chrNW_004955455:8,744,865...8,781,644
Ensembl chrNW_004955455:8,744,176...8,783,741 		JBrowse link
Brachyolmia Type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trpv4 transient receptor potential cation channel subfamily V member 4 ISO ClinVar Annotator: match by term: Brachyolmia Type 3 | ClinVar Annotator: match by term: Brachyolmia autosomal dominant OMIM
ClinVar		 PMID:4056805 PMID:8179305 PMID:18587396 PMID:19661060 PMID:19666518 More... NCBI chrNW_004955455:8,744,865...8,781,644
Ensembl chrNW_004955455:8,744,176...8,783,741 		JBrowse link
brachyolmia-amelogenesis imperfecta syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ltbp3 latent transforming growth factor beta binding protein 3 ISO 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 OMIM
ClinVar		 PMID:9536098 PMID:11790802 PMID:16199547 PMID:17576681 PMID:19213025 More... NCBI chrNW_004955422:19,714,161...19,730,344
Ensembl chrNW_004955422:19,714,627...19,729,855 		JBrowse link
G Scyl1 SCY1 like pseudokinase 1 ISO ClinVar Annotator: match by term: Brachyolmia-amelogenesis imperfecta syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955422:19,730,224...19,742,348
Ensembl chrNW_004955422:19,730,224...19,742,348 		JBrowse link
Braddock-Carey Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kif15 kinesin family member 15 ISO ClinVar Annotator: match by term: Braddock-carey syndrome 2 OMIM
ClinVar		 PMID:25741868 PMID:28150392 NCBI chrNW_004955420:26,774,506...26,828,301
Ensembl chrNW_004955420:26,775,120...26,827,660 		JBrowse link
BRAIN ABNORMALITIES, NEURODEGENERATION, AND DYSOSTEOSCLEROSIS term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Csf1r colony stimulating factor 1 receptor ISO ClinVar Annotator: match by term: Brain abnormalities, neurodegeneration, and dysosteosclerosis OMIM
ClinVar		 PMID:8614507 PMID:22503135 PMID:23408870 PMID:24120500 PMID:24145216 More... NCBI chrNW_004955415:4,434,486...4,462,505
Ensembl chrNW_004955415:4,434,453...4,461,751 		JBrowse link
Bronchomalacia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ryr1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Bronchomalacia ClinVar PMID:16835904 PMID:24033266 PMID:25741868 NCBI chrNW_004955468:879,807...1,000,118
Ensembl chrNW_004955468:879,951...1,000,036 		JBrowse link
Bruck syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fkbp10 FKBP prolyl isomerase 10 ISO ClinVar Annotator: match by term: Bruck syndrome ClinVar PMID:16199547 PMID:22689593 PMID:22949511 PMID:25741868 PMID:28492532 More... NCBI chrNW_004955451:16,025,008...16,031,950
Ensembl chrNW_004955451:16,025,008...16,035,976 		JBrowse link
G Plod2 procollagen-lysine,2-oxoglutarate 5-dioxygenase 2 ISO ClinVar Annotator: match by term: OSTEOGENESIS IMPERFECTA WITH CONGENITAL JOINT CONTRACTURES ClinVar PMID:25086671 PMID:25741868 PMID:28492532 PMID:37076969 NCBI chrNW_004955474:11,392,163...11,473,918
Ensembl chrNW_004955474:11,392,163...11,475,508 		JBrowse link
Bruck Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col1a2 collagen type I alpha 2 chain ISO ClinVar Annotator: match by term: Bruck syndrome 1 ClinVar NCBI chrNW_004955432:11,127,961...11,164,145
Ensembl chrNW_004955432:11,128,112...11,163,302 		JBrowse link
G Fkbp10 FKBP prolyl isomerase 10 ISO ClinVar Annotator: match by term: Arthrogryposis-like disorder | ClinVar Annotator: match by term: Bruck syndrome 1 OMIM
ClinVar		 PMID:9129737 PMID:9481655 PMID:9927692 PMID:20362275 PMID:20696291 More... NCBI chrNW_004955451:16,025,008...16,031,950
Ensembl chrNW_004955451:16,025,008...16,035,976 		JBrowse link
Bruck Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Plod2 procollagen-lysine,2-oxoglutarate 5-dioxygenase 2 ISO ClinVar Annotator: match by term: Bruck syndrome 2 | ClinVar Annotator: match by term: PLOD2-related condition OMIM
ClinVar		 PMID:9927692 PMID:12881513 PMID:15523624 PMID:22689593 PMID:25086671 More... NCBI chrNW_004955474:11,392,163...11,473,918
Ensembl chrNW_004955474:11,392,163...11,475,508 		JBrowse link
Buschke-Ollendorff syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eln elastin ISO RGD PMID:1629625 RGD:9585749 NCBI chrNW_004955456:13,788,992...13,818,836 JBrowse link
Caffey disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G A4galt alpha 1,4-galactosyltransferase (P1PK blood group) ISO ClinVar Annotator: match by term: Infantile cortical hyperostosis ClinVar PMID:20971946 PMID:28492532 NCBI chrNW_004955413:28,018,363...28,038,359
Ensembl chrNW_004955413:28,018,451...28,019,509 		JBrowse link
G Col1a1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: Caffey Disease | ClinVar Annotator: match by term: Infantile cortical hyperostosis OMIM
ClinVar		 PMID:2037280 PMID:2542316 PMID:2794057 PMID:7691343 PMID:7695699 More... NCBI chrNW_004955451:11,468,156...11,484,410
Ensembl chrNW_004955451:11,468,290...11,483,073 		JBrowse link
calvarial doughnut lesions with bone fragility term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sgms2 sphingomyelin synthase 2 ISO ClinVar Annotator: match by term: Calvarial doughnut lesions with bone fragility and spondylometaphyseal dysplasia | ClinVar Annotator: match by term: Doughnut lesions of skull, familial OMIM
ClinVar		 PMID:19839042 PMID:25741868 PMID:28492532 PMID:30779713 PMID:32028018 NCBI chrNW_004955496:1,909,347...1,955,004
Ensembl chrNW_004955496:1,905,517...1,947,009 		JBrowse link
G Smc1a structural maintenance of chromosomes 1A ISO ClinVar Annotator: match by term: CDL ClinVar PMID:18414213 NCBI chrNW_004955475:421,472...468,286
Ensembl chrNW_004955475:421,409...468,324 		JBrowse link
campomelic dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcnj2 potassium inwardly rectifying channel subfamily J member 2 ISO ClinVar Annotator: match by term: Camptomelic dysplasia ClinVar PMID:9002675 PMID:10213041 PMID:11371614 PMID:15060123 PMID:25983619 More... NCBI chrNW_004955478:2,734,795...2,745,217
Ensembl chrNW_004955478:2,734,795...2,745,217 		JBrowse link
G Sox9 SRY-box transcription factor 9 ISO 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 OMIM
ClinVar		 PMID:1809232 PMID:7485151 PMID:7990924 PMID:8001137 PMID:8894698 More... NCBI chrNW_004955478:941,684...945,563
Ensembl chrNW_004955478:940,177...945,563 		JBrowse link
Campomelic Dysplasia with Autosomal Sex Reversal term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sox9 SRY-box transcription factor 9 ISO ClinVar Annotator: match by term: Campomelic dysplasia with autosomal sex reversal ClinVar PMID:1809232 PMID:7485151 PMID:7990924 PMID:8001137 PMID:8894698 More... NCBI chrNW_004955478:941,684...945,563
Ensembl chrNW_004955478:940,177...945,563 		JBrowse link
Camurati-Engelmann disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lrp5 LDL receptor related protein 5 ISO ClinVar Annotator: match by term: Diaphyseal dysplasia ClinVar PMID:25741868 NCBI chrNW_004955422:17,394,371...17,475,244
Ensembl chrNW_004955422:17,394,371...17,505,763 		JBrowse link
G Mitf melanocyte inducing transcription factor ISO OMIM:131300 | OMIM:606631 MouseDO NCBI chrNW_004955421:17,948,117...18,157,379
Ensembl chrNW_004955421:17,947,277...18,154,090 		JBrowse link
G Tgfb1 transforming growth factor beta 1 ISO ClinVar Annotator: match by term: Diaphyseal dysplasia OMIM
ClinVar		 PMID:10973241 PMID:11062463 PMID:11278244 PMID:11810278 PMID:12493741 More... NCBI chrNW_004955555:274,405...288,441
Ensembl chrNW_004955555:270,652...288,441 		JBrowse link
Carey-Fineman-Ziter syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mymk myomaker, myoblast fusion factor ISO 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 ClinVar PMID:7131178 PMID:25741868 PMID:28681861 PMID:29560417 PMID:30016436 More... NCBI chrNW_004955513:2,835,466...2,842,325
Ensembl chrNW_004955513:2,833,234...2,842,325 		JBrowse link
Carey-Fineman-Ziter Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mymk myomaker, myoblast fusion factor ISO ClinVar Annotator: match by term: Carey-Fineman-Ziter syndrome 1 OMIM
ClinVar		 PMID:7131178 PMID:25741868 PMID:28681861 PMID:29560417 PMID:30065953 NCBI chrNW_004955513:2,835,466...2,842,325
Ensembl chrNW_004955513:2,833,234...2,842,325 		JBrowse link
cartilage-hair hypoplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc107 coiled-coil domain containing 107 ISO ClinVar Annotator: match by term: Cartilage-hair hypoplasia ClinVar PMID:8034306 PMID:8444246 PMID:9156319 PMID:10026268 PMID:11207361 More... NCBI chrNW_004955472:636,633...640,198
Ensembl chrNW_004955472:633,405...640,175 		JBrowse link
CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Iars2 isoleucyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia OMIM
ClinVar		 PMID:8409271 PMID:25130867 PMID:25741868 PMID:28328135 PMID:28492532 More... NCBI chrNW_004955520:3,485,816...3,521,035
Ensembl chrNW_004955520:3,485,816...3,520,549 		JBrowse link
Catel Manzke syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kynu kynureninase ISO ClinVar Annotator: match by term: Catel-Manzke syndrome | ClinVar Annotator: match by term: MICROGNATHIA DIGITAL SYNDROME ClinVar PMID:25741868 PMID:31923704 PMID:33942433 NCBI chrNW_004955440:9,420,141...9,536,767
Ensembl chrNW_004955440:9,420,009...9,536,761 		JBrowse link
G Tgds TDP-glucose 4,6-dehydratase ISO ClinVar Annotator: match by term: Catel-Manzke syndrome | ClinVar Annotator: match by term: Index finger anomaly with Pierre Robin syndrome OMIM
ClinVar		 PMID:9777339 PMID:18501694 PMID:22887726 PMID:25480037 PMID:25741868 More... NCBI chrNW_004955404:15,279,956...15,298,295
Ensembl chrNW_004955404:15,279,866...15,298,295 		JBrowse link
cherubism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Add1 adducin 1 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chrNW_004955514:1,784,302...1,812,845
Ensembl chrNW_004955514:1,783,814...1,815,917 		JBrowse link
G Atp5me ATP synthase membrane subunit e ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chrNW_004955404:11,420,964...11,421,171 JBrowse link
G Cplx1 complexin 1 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chrNW_004955514:359,174...376,916
Ensembl chrNW_004955514:359,174...376,916 		JBrowse link
G Ctbp1 C-terminal binding protein 1 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chrNW_004955514:630,168...652,817
Ensembl chrNW_004955514:626,645...652,817 		JBrowse link
G Dgkq diacylglycerol kinase theta ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chrNW_004955514:452,548...475,240
Ensembl chrNW_004955514:453,886...464,978 		JBrowse link
G Dok7 docking protein 7 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chrNW_004955514:2,166,263...2,190,211
Ensembl chrNW_004955514:2,166,079...2,190,128 		JBrowse link
G Fam193a family with sequence similarity 193 member A ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chrNW_004955514:1,588,882...1,672,292
Ensembl chrNW_004955514:1,588,894...1,672,292 		JBrowse link
G Fam53a family with sequence similarity 53 member A ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chrNW_004955514:917,344...947,729
Ensembl chrNW_004955514:914,325...947,738 		JBrowse link
G Fgfr3 fibroblast growth factor receptor 3 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chrNW_004955514:1,030,244...1,038,590
Ensembl chrNW_004955514:1,025,600...1,038,590 		JBrowse link
G Fgfrl1 fibroblast growth factor receptor like 1 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chrNW_004955514:499,526...509,208
Ensembl chrNW_004955514:497,573...509,811 		JBrowse link
G Gak cyclin G associated kinase ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chrNW_004955514:391,305...434,198
Ensembl chrNW_004955514:387,179...434,077 		JBrowse link
G Grk4 G protein-coupled receptor kinase 4 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chrNW_004955514:1,837,141...1,895,785
Ensembl chrNW_004955514:1,837,141...1,895,785 		JBrowse link
G Haus3 HAUS augmin like complex subunit 3 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chrNW_004955514:1,331,838...1,342,128
Ensembl chrNW_004955514:1,327,039...1,341,635 		JBrowse link
G Hgfac HGF activator ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chrNW_004955514:2,155,924...2,161,302
Ensembl chrNW_004955514:2,155,384...2,165,957 		JBrowse link
G Htt huntingtin ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chrNW_004955514:1,906,189...2,042,357
Ensembl chrNW_004955514:1,906,502...2,038,889 		JBrowse link
G Idua alpha-L-iduronidase ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chrNW_004955514:474,830...488,007
Ensembl chrNW_004955514:475,731...488,007 		JBrowse link
G Letm1 leucine zipper and EF-hand containing transmembrane protein 1 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chrNW_004955514:1,040,103...1,069,297
Ensembl chrNW_004955514:1,042,307...1,069,114 		JBrowse link
G Maea macrophage erythroblast attacher, E3 ubiquitin ligase ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chrNW_004955514:689,867...722,779
Ensembl chrNW_004955514:689,868...722,779 		JBrowse link
G Mfsd10 major facilitator superfamily domain containing 10 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chrNW_004955514:1,813,259...1,815,834 JBrowse link
G Msantd1 Myb/SANT DNA binding domain containing 1 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chrNW_004955514:2,037,891...2,053,746
Ensembl chrNW_004955514:2,037,891...2,053,746 		JBrowse link
G Mxd4 MAX dimerization protein 4 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chrNW_004955514:1,348,602...1,358,092
Ensembl chrNW_004955514:1,345,960...1,358,092 		JBrowse link
G Myl5 myosin light chain 5 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chrNW_004955514:282,565...289,199 JBrowse link
G Nat8l N-acetyltransferase 8 like ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chrNW_004955514:1,207,310...1,213,732 JBrowse link
G Nelfa negative elongation factor complex member A ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chrNW_004955514:1,162,993...1,173,278
Ensembl chrNW_004955514:1,162,993...1,173,278 		JBrowse link
G Nicol1 NELL2 interacting cell ontogeny regulator 1 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chrNW_004955514:1,200,732...1,201,730
Ensembl chrNW_004955514:1,200,721...1,213,789 		JBrowse link
G Nkx1-1 NK1 homeobox 1 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chrNW_004955514:763,160...781,635 JBrowse link
G Nop14 NOP14 nucleolar protein ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chrNW_004955514:1,817,645...1,837,011
Ensembl chrNW_004955514:1,817,980...1,836,984 		JBrowse link
G Nsd2 nuclear receptor binding SET domain protein 2 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chrNW_004955514:1,084,522...1,162,624
Ensembl chrNW_004955514:1,069,085...1,162,624 		JBrowse link
G Pcgf3 polycomb group ring finger 3 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chrNW_004955514:307,331...350,039
Ensembl chrNW_004955514:307,332...350,039 		JBrowse link
G Pde6b phosphodiesterase 6B ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chrNW_004955514:234,972...279,420
Ensembl chrNW_004955514:234,972...279,420 		JBrowse link
G Pigg phosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chrNW_004955514:119,804...152,603
Ensembl chrNW_004955514:120,287...151,827 		JBrowse link
G Poln DNA polymerase nu ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chrNW_004955514:1,214,867...1,342,172
Ensembl chrNW_004955514:1,215,131...1,329,024 		JBrowse link
G Rgs12 regulator of G protein signaling 12 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chrNW_004955514:2,081,575...2,154,414
Ensembl chrNW_004955514:2,088,354...2,154,191 		JBrowse link
G Rit1 Ras like without CAAX 1 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chrNW_004955545:2,089,530...2,099,404
Ensembl chrNW_004955545:2,089,536...2,099,404 		JBrowse link
G Rnf212 ring finger protein 212 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chrNW_004955514:525,430...559,037
Ensembl chrNW_004955514:525,085...559,153 		JBrowse link
G Rnf4 ring finger protein 4 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chrNW_004955514:1,501,943...1,525,689
Ensembl chrNW_004955514:1,511,062...1,523,714 		JBrowse link
G Sh3bp2 SH3 domain binding protein 2 ISO ClinVar Annotator: match by term: Cherubism | ClinVar Annotator: match by term: Fibrous dysplasia of jaw OMIM
ClinVar		 PMID:9536098 PMID:11381256 PMID:12900899 PMID:14577811 PMID:15507112 More... NCBI chrNW_004955514:1,700,889...1,730,002
Ensembl chrNW_004955514:1,712,793...1,730,002 		JBrowse link
G Slbp stem-loop histone mRNA binding protein ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chrNW_004955514:954,489...968,670
Ensembl chrNW_004955514:955,296...967,327 		JBrowse link
G Slc26a1 solute carrier family 26 member 1 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chrNW_004955514:476,062...484,710
Ensembl chrNW_004955514:475,731...479,616 		JBrowse link
G Slc49a3 solute carrier family 49 member 3 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chrNW_004955514:289,301...295,443
Ensembl chrNW_004955514:289,874...295,127 		JBrowse link
G Spon2 spondin 2 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chrNW_004955514:598,840...603,390
Ensembl chrNW_004955514:596,829...604,051 		JBrowse link
G Tacc3 transforming acidic coiled-coil containing protein 3 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chrNW_004955514:973,457...986,640
Ensembl chrNW_004955514:975,176...986,686 		JBrowse link
G Tmem129 transmembrane protein 129, E3 ubiquitin ligase ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chrNW_004955514:968,763...972,918
Ensembl chrNW_004955514:968,763...972,918 		JBrowse link
G Tmem175 transmembrane protein 175 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chrNW_004955514:434,283...453,239
Ensembl chrNW_004955514:434,285...453,239 		JBrowse link
G Tnip2 TNFAIP3 interacting protein 2 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chrNW_004955514:1,682,641...1,687,881 JBrowse link
G Uvssa UV stimulated scaffold protein A ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chrNW_004955514:725,257...754,274
Ensembl chrNW_004955514:728,522...756,348 		JBrowse link
G Zfyve28 zinc finger FYVE-type containing 28 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chrNW_004955514:1,366,186...1,450,982
Ensembl chrNW_004955514:1,367,067...1,450,909 		JBrowse link
G Znf721 zinc finger protein 721 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chrNW_004955514:10,741...81,730 JBrowse link
CHITAYAT SYNDROME term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Erf ETS2 repressor factor ISO ClinVar Annotator: match by term: Chitayat syndrome OMIM
ClinVar		 PMID:8418638 PMID:23354439 PMID:25741868 PMID:26097063 PMID:27738187 More... NCBI chrNW_004955555:654,945...661,097
Ensembl chrNW_004955555:654,414...665,277 		JBrowse link
chondrodysplasia Blomstrand type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myl3 myosin light chain 3 ISO ClinVar Annotator: match by term: Chondrodysplasia Blomstrand type ClinVar NCBI chrNW_004955420:25,308,513...25,311,959
Ensembl chrNW_004955420:25,305,759...25,312,271 		JBrowse link
G Pth1r parathyroid hormone 1 receptor ISO ClinVar Annotator: match by term: Blomstrand lethal osteochondrodysplasia | ClinVar Annotator: match by term: Chondrodysplasia Blomstrand type OMIM
ClinVar		 PMID:3975110 PMID:9268097 PMID:9536098 PMID:9649554 PMID:9745456 More... NCBI chrNW_004955420:25,274,269...25,291,984
Ensembl chrNW_004955420:25,273,431...25,296,471 		JBrowse link
chondrodysplasia punctata term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arsl arylsulfatase L susceptibility ISO RGD PMID:9409863 RGD:1599238 NCBI chrNW_004955499:1,751,663...1,773,112
Ensembl chrNW_004955499:1,747,649...1,773,110 		JBrowse link
G Ebp EBP cholestenol delta-isomerase ISO CDPX2, OMIM:302960;DNA:point mutation:exon:W29X, R63X
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:10391218 PMID:18176751 RGD:734908 NCBI chrNW_004955543:92,553...98,370
Ensembl chrNW_004955543:92,122...98,370 		JBrowse link
chondrodysplasia with joint dislocations gPAPP type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bpnt2 3'(2'), 5'-bisphosphate nucleotidase 2 ISO ClinVar Annotator: match by term: Chondrodysplasia with joint dislocations, gPAPP type OMIM
ClinVar		 PMID:21549340 PMID:21834032 PMID:22887726 PMID:25741868 PMID:28492532 More... NCBI chrNW_004955454:15,899,820...15,918,222 JBrowse link
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 Hdac6 histone deacetylase 6 ISO ClinVar Annotator: match by term: X-linked dominant chondrodysplasia, Chassaing-Lacombe type OMIM
ClinVar		 PMID:16001442 PMID:20181727 PMID:25741868 PMID:28492532 NCBI chrNW_004955543:348,314...378,391
Ensembl chrNW_004955543:348,019...378,071 		JBrowse link
chondrodysplasia-pseudohermaphroditism syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hhat hedgehog acyltransferase ISO ClinVar Annotator: match by term: Chondrodysplasia-pseudohermaphroditism syndrome | ClinVar Annotator: match by term: Pseudohermaphrodism and chondrodysplasia OMIM
ClinVar		 PMID:24784881 PMID:25741868 PMID:28492532 PMID:30912300 NCBI chrNW_004955489:1,553,580...1,868,088
Ensembl chrNW_004955489:1,553,568...1,855,166 		JBrowse link
cleidocranial dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agt angiotensinogen ISO ClinVar Annotator: match by term: Large fontanelles ClinVar PMID:25741868 PMID:35005812 NCBI chrNW_004955492:7,863,662...7,874,863
Ensembl chrNW_004955492:7,866,833...7,873,357 		JBrowse link
G Runx2 RUNX family transcription factor 2 ISO 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 OMIM
ClinVar		 PMID:9182765 PMID:9207800 PMID:10521292 PMID:10545612 PMID:10980549 More... NCBI chrNW_004955437:10,598,145...10,885,858
Ensembl chrNW_004955437:10,598,145...10,800,560 		JBrowse link
G Supt3h SPT3 homolog, SAGA and STAGA complex component ISO ClinVar Annotator: match by term: Cleidocranial dysostosis ClinVar PMID:33987976 NCBI chrNW_004955437:10,207,802...10,649,559
Ensembl chrNW_004955437:10,258,783...10,649,590 		JBrowse link
G Tbx1 T-box transcription factor 1 ISO RGD PMID:25209980 RGD:155641242 NCBI chrNW_004955442:18,320,674...18,327,062
Ensembl chrNW_004955442:18,319,762...18,325,337 		JBrowse link
Cleidocranial Dysplasia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cbfb core-binding factor subunit beta ISO ClinVar Annotator: match by term: Cleidocranial dysplasia 2 OMIM
ClinVar		 PMID:25741868 PMID:36241386 NCBI chrNW_004955484:9,503,286...9,557,066
Ensembl chrNW_004955484:9,503,227...9,557,066 		JBrowse link
CODAS syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lonp1 lon peptidase 1, mitochondrial ISO 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 OMIM
ClinVar		 PMID:1887855 PMID:5574826 PMID:9536098 PMID:17576681 PMID:25574826 More... NCBI chrNW_004955495:3,712,173...3,729,556
Ensembl chrNW_004955495:3,712,199...3,731,301 		JBrowse link
Cole-Carpenter syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G P4hb prolyl 4-hydroxylase subunit beta ISO ClinVar Annotator: match by term: Bone fragility with craniosynostosis, ocular proptosis, hydrocephalus, and distinctive facial features | ClinVar Annotator: match by term: Cole-Carpenter syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955506:1,307,932...1,322,011
Ensembl chrNW_004955506:1,307,932...1,324,027 		JBrowse link
G Sec24d SEC24 homolog D, COPII coat complex component ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004955428:21,381,809...21,475,329
Ensembl chrNW_004955428:21,381,809...21,500,429 		JBrowse link
Cole-Carpenter Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G P4hb prolyl 4-hydroxylase subunit beta ISO ClinVar Annotator: match by term: Cole-Carpenter syndrome 1 OMIM
ClinVar		 PMID:25683117 PMID:25741868 PMID:28492532 PMID:29263160 PMID:30063094 NCBI chrNW_004955506:1,307,932...1,322,011
Ensembl chrNW_004955506:1,307,932...1,324,027 		JBrowse link
Cole-Carpenter Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sec24d SEC24 homolog D, COPII coat complex component ISO ClinVar Annotator: match by term: Cole-Carpenter syndrome 2 | ClinVar Annotator: match by term: SEC24D-related condition OMIM
ClinVar		 PMID:25683121 PMID:25741868 PMID:26467156 PMID:27942778 PMID:28492532 More... NCBI chrNW_004955428:21,381,809...21,475,329
Ensembl chrNW_004955428:21,381,809...21,500,429 		JBrowse link
Collagenopathy, Type 2 Alpha 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col2a1 collagen type II alpha 1 chain ISO ClinVar Annotator: match by term: Cartilage collagen ClinVar PMID:1905723 PMID:7695699 PMID:8218237 PMID:8423604 PMID:9016532 More... NCBI chrNW_004955500:6,860,771...6,885,466
Ensembl chrNW_004955500:6,860,771...6,885,473 		JBrowse link
COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mitf melanocyte inducing transcription factor ISO ClinVar Annotator: match by term: Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness ClinVar
OMIM		 PMID:8659547 PMID:16199547 PMID:20127975 PMID:25741868 PMID:27884168 More... NCBI chrNW_004955421:17,948,117...18,157,379
Ensembl chrNW_004955421:17,947,277...18,154,090 		JBrowse link
Combined Immunodeficiency with Autoimmunity and Spondylometaphyseal Dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acp5 acid phosphatase 5, tartrate resistant ISO ClinVar Annotator: match by term: Spondyloenchondrodysplasia with immune dysregulation OMIM
ClinVar		 PMID:2363422 PMID:9536098 PMID:12786759 PMID:13524805 PMID:16470600 More... NCBI chrNW_004955495:2,418,113...2,421,181
Ensembl chrNW_004955495:2,418,364...2,421,538 		JBrowse link
Combined Osteogenesis Imperfecta and Ehlers-Danlos Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col1a1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1 | ClinVar Annotator: match by term: OIEDS SYNDROME 1 OMIM
ClinVar		 PMID:7695699 PMID:7942841 PMID:8218237 PMID:8456808 PMID:8613526 More... NCBI chrNW_004955451:11,468,156...11,484,410
Ensembl chrNW_004955451:11,468,290...11,483,073 		JBrowse link
Combined Osteogenesis Imperfecta and Ehlers-Danlos Syndrome 2 term browser