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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.


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 chr14:46,620,982...46,628,126
Ensembl chr14:46,620,977...46,628,126 		JBrowse link
G Col11a2 collagen, type XI, alpha 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11668593 NCBI chr17:34,257,462...34,285,659
Ensembl chr17:34,258,411...34,285,659 		JBrowse link
G Col2a1 collagen, type II, alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27028940 NCBI chr15:97,873,483...97,902,525
Ensembl chr15:97,873,483...97,902,576 		JBrowse link
G Edn1 endothelin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20707411 NCBI chr13:42,454,952...42,461,466
Ensembl chr13:42,454,952...42,461,466 		JBrowse link
G Fgf14 fibroblast growth factor 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11241832 NCBI chr14:124,211,257...124,915,098
Ensembl chr14:124,215,319...124,914,539 		JBrowse link
G Gata2 GATA binding protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20707411 NCBI chr 6:88,170,873...88,184,014
Ensembl chr 6:88,170,873...88,184,014 		JBrowse link
G Mmp3 matrix metallopeptidase 3 ISO mRNA:increased expression:articular cartilage RGD PMID:20153826 RGD:2325860 NCBI chr 9:7,445,845...7,455,975
Ensembl chr 9:7,445,822...7,455,975 		JBrowse link
G Mt2 metallothionein 2 IEP Auricular Chondritis; mRNA:increased expression:ear (mouse) RGD PMID:17606507 RGD:6483833 NCBI chr 8:94,899,246...94,900,195
Ensembl chr 8:94,899,292...94,900,196 		JBrowse link
G Nppc natriuretic peptide type C ISO CTD Direct Evidence: marker/mechanism CTD PMID:17676597 NCBI chr 1:86,594,015...86,598,295
Ensembl chr 1:86,594,013...86,598,293 		JBrowse link
acheiropody term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lmbr1 limb region 1 ISO
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Acheiropodia
OMIM:200500		 OMIM
CTD
ClinVar
MouseDO		 PMID:11090342 PMID:33863876 NCBI chr 5:29,434,800...29,583,414
Ensembl chr 5:29,434,800...29,583,388
Ensembl chr 5:29,434,800...29,583,388 		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 (sulfate transporter), member 2 ISO ClinVar Annotator: match by term: Achondrogenesis ClinVar NCBI chr18:61,329,926...61,344,668
Ensembl chr18:61,325,991...61,344,684 		JBrowse link
G Trip11 thyroid hormone receptor interactor 11 ISO ClinVar Annotator: match by term: Achondrogenesis ClinVar NCBI chr12:101,800,304...101,879,463
Ensembl chr12:101,800,302...101,879,526 		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 chr12:103,287,401...103,322,260
Ensembl chr12:103,287,401...103,322,260 		JBrowse link
G Atxn3 ataxin 3 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr12:101,885,160...101,928,139
Ensembl chr12:101,885,160...101,924,505 		JBrowse link
G Btbd7 BTB domain containing 7 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr12:102,747,056...102,844,733
Ensembl chr12:102,747,056...102,844,730 		JBrowse link
G Calm1 calmodulin 1 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr12:100,165,694...100,176,083
Ensembl chr12:100,165,694...100,176,073 		JBrowse link
G Catsperb cation channel sperm associated auxiliary subunit beta ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr12:101,370,904...101,592,268
Ensembl chr12:101,370,912...101,592,268 		JBrowse link
G Ccdc88c coiled-coil domain containing 88C ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr12:100,877,778...100,995,610
Ensembl chr12:100,877,782...100,995,315 		JBrowse link
G Chga chromogranin A ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr12:102,521,200...102,531,286
Ensembl chr12:102,521,228...102,531,287 		JBrowse link
G Cox8c cytochrome c oxidase subunit 8C ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr12:102,865,565...102,866,793
Ensembl chr12:102,865,575...102,866,785 		JBrowse link
G Cpsf2 cleavage and polyadenylation specific factor 2 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr12:101,940,345...101,972,252
Ensembl chr12:101,942,247...101,972,683 		JBrowse link
G Ddx24 DEAD box helicase 24 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr12:103,374,235...103,392,106
Ensembl chr12:103,374,241...103,392,089 		JBrowse link
G Dglucy D-glutamate cyclase ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr12:100,745,316...100,838,869
Ensembl chr12:100,745,316...100,863,240 		JBrowse link
G Fam181a family with sequence similarity 181, member A ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr12:103,277,272...103,283,326
Ensembl chr12:103,277,234...103,283,324 		JBrowse link
G Fbln5 fibulin 5 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr12:101,712,820...101,785,541
Ensembl chr12:101,712,824...101,785,314 		JBrowse link
G Golga5 golgin A5 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr12:102,435,372...102,464,274
Ensembl chr12:102,435,394...102,464,166 		JBrowse link
G Gon7 GON7 subunit of KEOPS complex ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr12:102,719,534...102,724,069
Ensembl chr12:102,719,534...102,724,062 		JBrowse link
G Gpr68 G protein-coupled receptor 68 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr12:100,842,941...100,874,457
Ensembl chr12:100,842,941...100,874,457 		JBrowse link
G Ifi27 interferon, alpha-inducible protein 27 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr12:103,400,448...103,406,504
Ensembl chr12:103,400,470...103,406,498 		JBrowse link
G Ifi27l2a interferon, alpha-inducible protein 27 like 2A ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr12:103,400,132...103,409,939
Ensembl chr12:103,408,426...103,409,939 		JBrowse link
G Itpk1 inositol 1,3,4-triphosphate 5/6 kinase ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr12:102,534,842...102,671,128
Ensembl chr12:102,534,841...102,671,189 		JBrowse link
G Kcnk13 potassium channel, subfamily K, member 13 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr12:99,928,132...100,028,941
Ensembl chr12:99,930,758...100,028,941 		JBrowse link
G Lgmn legumain ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr12:102,360,341...102,405,987
Ensembl chr12:102,360,343...102,406,072 		JBrowse link
G Lyset lysosomal enzyme trafficking factor ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr12:102,709,978...102,714,551
Ensembl chr12:102,710,021...102,713,820 		JBrowse link
G Moap1 modulator of apoptosis 1 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr12:102,706,089...102,709,920
Ensembl chr12:102,708,489...102,709,920 		JBrowse link
G Ndufb1 NADH:ubiquinone oxidoreductase subunit B1 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr12:101,934,355...101,941,997
Ensembl chr12:101,934,349...101,943,327 		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 chr12:100,091,709...100,126,981
Ensembl chr12:100,091,711...100,125,912 		JBrowse link
G Otub2 OTU domain, ubiquitin aldehyde binding 2 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr12:103,343,244...103,372,609
Ensembl chr12:103,354,941...103,372,609 		JBrowse link
G Ppp4r3a protein phosphatase 4 regulatory subunit 3A ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr12:101,005,668...101,051,721
Ensembl chr12:101,005,668...101,049,961 		JBrowse link
G Ppp4r4 protein phosphatase 4, regulatory subunit 4 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr12:103,498,509...103,580,098
Ensembl chr12:103,498,542...103,580,090 		JBrowse link
G Prima1 proline rich membrane anchor 1 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr12:103,160,712...103,208,967
Ensembl chr12:103,163,167...103,208,409 		JBrowse link
G Psmc1 protease (prosome, macropain) 26S subunit, ATPase 1 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr12:100,076,461...100,089,623
Ensembl chr12:100,076,413...100,089,664 		JBrowse link
G Rin3 Ras and Rab interactor 3 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr12:102,248,572...102,358,982
Ensembl chr12:102,249,307...102,357,114 		JBrowse link
G Rps6ka5 ribosomal protein S6 kinase, polypeptide 5 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr12:100,514,692...100,691,693
Ensembl chr12:100,514,698...100,693,242 		JBrowse link
G Serpina10 serine (or cysteine) peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr12:103,582,934...103,597,681
Ensembl chr12:103,581,045...103,597,703 		JBrowse link
G Serpina1f serine (or cysteine) peptidase inhibitor, clade A, member 1F ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr12:103,654,303...103,661,788
Ensembl chr12:103,654,303...103,661,788 		JBrowse link
G Serpina6 serine (or cysteine) peptidase inhibitor, clade A, member 6 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr12:103,612,889...103,623,477
Ensembl chr12:103,612,889...103,623,471 		JBrowse link
G Slc24a4 solute carrier family 24 (sodium/potassium/calcium exchanger), member 4 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr12:102,094,986...102,239,562
Ensembl chr12:102,094,992...102,233,350 		JBrowse link
G Tc2n tandem C2 domains, nuclear ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr12:101,611,705...101,685,178
Ensembl chr12:101,611,702...101,684,782 		JBrowse link
G Tdp1 tyrosyl-DNA phosphodiesterase 1 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr12:99,850,767...99,921,482
Ensembl chr12:99,850,776...99,921,478 		JBrowse link
G Trip11 thyroid hormone receptor interactor 11 ISO
IAGP		 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
CTD Direct Evidence: marker/mechanism
OMIM:200600		 OMIM
ClinVar
CTD
MouseDO		 PMID:200899 PMID:2008997 PMID:9536098 PMID:16199547 PMID:17576681 More... NCBI chr12:101,800,304...101,879,463
Ensembl chr12:101,800,302...101,879,526 		JBrowse link
G Ttc7b tetratricopeptide repeat domain 7B ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr12:100,267,029...100,487,134
Ensembl chr12:100,267,029...100,487,085 		JBrowse link
G Ubr7 ubiquitin protein ligase E3 component n-recognin 7 (putative) ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr12:102,724,234...102,743,960
Ensembl chr12:102,724,226...102,743,966 		JBrowse link
G Unc79 unc-79 homolog ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr12:102,913,642...103,150,487
Ensembl chr12:102,915,118...103,150,324 		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 (sulfate transporter), member 2 ISO ClinVar Annotator: match by term: Achondrogenesis Fraccaro type | ClinVar Annotator: match by term: Achondrogenesis, type IB
CTD Direct Evidence: marker/mechanism
DNA:mutations:cds:		 OMIM
ClinVar
CTD
RGD		 PMID:4644462 PMID:7695699 PMID:7923357 PMID:8218237 PMID:8528239 More... RGD:11068488 NCBI chr18:61,329,926...61,344,668
Ensembl chr18:61,325,991...61,344,684 		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 ISO
IAGP		 ClinVar Annotator: match by term: Achondrogenesis type II | ClinVar Annotator: match by term: Chondrogenesis imperfecta
OMIM:200610
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:7695699 PMID:7741714 PMID:7752132 PMID:7757081 PMID:7829510 More... NCBI chr15:97,873,483...97,902,525
Ensembl chr15:97,873,483...97,902,576 		JBrowse link
achondroplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acan aggrecan IAGP OMIM:100800 MouseDO NCBI chr 7:78,702,974...78,764,847
Ensembl chr 7:78,703,231...78,764,847 		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 chr 2:125,142,514...125,348,417
Ensembl chr 2:125,142,514...125,349,913 		JBrowse link
G Fgfr3 fibroblast growth factor receptor 3 severity ISO
IAGP		 DNA:missense mutation:cds:p.G380R (human)
ClinVar Annotator: match by term: Achondroplasia | ClinVar Annotator: match by term: Skeleton skin brain syndrome
CTD Direct Evidence: marker/mechanism
OMIM:100800
DNA:mutation:cds:p.K650M(human)		 ClinVar
CTD
MouseDO
OMIM
RGD		 PMID:1908846 PMID:4697848 PMID:7647778 PMID:7649548 PMID:7670477 More... RGD:1598937, RGD:11568054 NCBI chr 5:33,879,068...33,894,412
Ensembl chr 5:33,879,018...33,894,412 		JBrowse link
G Nppc natriuretic peptide type C IAGP OMIM:100800 MouseDO NCBI chr 1:86,594,015...86,598,295
Ensembl chr 1:86,594,013...86,598,293 		JBrowse link
G Npr2 natriuretic peptide receptor 2 IAGP DNA:missense mutation:cds:p.L885R (mouse)
OMIM:100800		 MouseDO
RGD		 PMID:15722353 RGD:1580771 NCBI chr 4:43,629,015...43,651,437
Ensembl chr 4:43,631,935...43,651,244 		JBrowse link
G Pthlh parathyroid hormone-like peptide IAGP OMIM:100800 MouseDO NCBI chr 6:147,153,607...147,165,511
Ensembl chr 6:147,153,599...147,165,681 		JBrowse link
G Spred2 sprouty-related EVH1 domain containing 2 IAGP OMIM:100800 MouseDO NCBI chr11:19,874,442...19,974,026
Ensembl chr11:19,874,375...19,974,026 		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 chr 5:33,879,068...33,894,412
Ensembl chr 5:33,879,018...33,894,412 		JBrowse link
acrocapitofemoral dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ihh Indian hedgehog ISO DNA:point mutations:CDS:p.P46L (137C>T), p.V190A (T569T>C) (human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Acrocapitofemoral dysplasia		 CTD
ClinVar
OMIM
RGD		 PMID:12624140 PMID:12632327 PMID:25741868 PMID:28492532 PMID:34530144 More... RGD:1600033 NCBI chr 1:74,984,474...74,990,831
Ensembl chr 1:74,984,474...74,990,831 		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 chr11:109,563,752...109,613,989
Ensembl chr11:109,560,575...109,613,105 		JBrowse link
G Pde4d phosphodiesterase 4D, cAMP specific ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Acrodysostosis		 CTD
ClinVar		 PMID:25741868 PMID:28492532 NCBI chr13:108,790,711...110,092,503
Ensembl chr13:108,586,482...110,089,995 		JBrowse link
G Prkar1a protein kinase, cAMP dependent regulatory, type I, alpha ISO
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Acrodysostosis | ClinVar Annotator: match by term: Peripheral dysostosis-nasal hypoplasia-mental retardation (PNM) syndrome
OMIM:101800 | OMIM:614613		 CTD
ClinVar
MouseDO		 PMID:11115848 PMID:15371594 PMID:18241045 PMID:19293268 PMID:21651393 More... NCBI chr11:109,539,849...109,560,489
Ensembl chr11:109,540,231...109,560,482 		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 regulatory, type I, 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 chr11:109,539,849...109,560,489
Ensembl chr11:109,540,231...109,560,482 		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 chr13:108,452,592...108,526,100
Ensembl chr13:108,452,866...108,544,316 		JBrowse link
G Pde4d phosphodiesterase 4D, cAMP specific 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 chr13:108,790,711...110,092,503
Ensembl chr13:108,586,482...110,089,995 		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 chr 2:155,782,943...155,787,204
Ensembl chr 2:155,782,943...155,787,287 		JBrowse link
G Npr2 natriuretic peptide receptor 2 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia ClinVar PMID:28492532 NCBI chr 4:43,629,015...43,651,437
Ensembl chr 4:43,631,935...43,651,244 		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
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Grebe syndrome
OMIM:200700
DNA:missense mutation:cds:c.1285T>C (p.C429R)(human)
DNA:missense mutation:cds:c.527T>C(p.L176P)(human)
DNA:insertion mutation:cds:1114insGAGT(human)		 OMIM
CTD
ClinVar
MouseDO
RGD		 PMID:9288098 PMID:12124730 PMID:12900894 PMID:17384641 PMID:25741868 More... RGD:12487346, RGD:12437083, RGD:12437075 NCBI chr 2:155,782,943...155,787,204
Ensembl chr 2:155,782,943...155,787,287 		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 chr 3:141,540,230...141,875,335
Ensembl chr 3:141,542,897...141,875,186 		JBrowse link
G Gdf5 growth differentiation factor 5 ISO
IAGP		 ClinVar Annotator: match by term: Acromesomelic dysplasia 2C, Hunter-Thompson type | ClinVar Annotator: match by term: Acromesomelic dysplasia, Hunter-Thompson type
OMIM:201250		 OMIM
ClinVar
MouseDO		 PMID:2703235 PMID:8589725 PMID:17384641 PMID:25741868 PMID:28492532 NCBI chr 2:155,782,943...155,787,204
Ensembl chr 2:155,782,943...155,787,287 		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 chr 4:40,682,078...40,703,206
Ensembl chr 4:40,682,382...40,703,194 		JBrowse link
G Aqp3 aquaporin 3 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 4:41,092,724...41,098,183
Ensembl chr 4:41,092,722...41,098,183 		JBrowse link
G Aqp7 aquaporin 7 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 4:41,033,074...41,048,237
Ensembl chr 4:41,033,074...41,048,139 		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 chr 4:43,496,139...43,508,747
Ensembl chr 4:43,496,142...43,499,695 		JBrowse link
G Arid3c AT-rich interaction domain 3C ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 4:41,723,830...41,731,226
Ensembl chr 4:41,723,836...41,731,142 		JBrowse link
G Atosb atos homolog B ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 4:43,032,414...43,046,220
Ensembl chr 4:43,032,414...43,046,220 		JBrowse link
G B4galt1 UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 4:40,804,602...40,855,711
Ensembl chr 4:40,804,602...40,854,005 		JBrowse link
G Bag1 BCL2-associated athanogene 1 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 4:40,936,398...40,948,294
Ensembl chr 4:40,936,398...40,948,294 		JBrowse link
G Car9 carbonic anhydrase 9 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 4:43,507,026...43,513,729
Ensembl chr 4:43,506,966...43,513,729 		JBrowse link
G Ccdc107 coiled-coil domain containing 107 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 4:43,493,365...43,495,921
Ensembl chr 4:43,492,900...43,495,921 		JBrowse link
G Ccin calicin ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 4:43,983,504...43,985,533
Ensembl chr 4:43,983,483...43,985,423 		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 chr 4:42,754,525...42,756,558
Ensembl chr 4:42,754,525...42,756,577 		JBrowse link
G Ccl21a C-C motif chemokine ligand 21 (serine) ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 4:42,772,860...42,773,991
Ensembl chr 4:42,772,860...42,773,993 		JBrowse link
G Ccl27a C-C motif chemokine ligand 27A ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 4:41,769,467...41,774,251
Ensembl chr 4:41,769,467...41,774,247 		JBrowse link
G Cd72 CD72 antigen ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 4:43,447,724...43,454,708
Ensembl chr 4:43,446,462...43,454,628 		JBrowse link
G Chmp5 charged multivesicular body protein 5 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 4:40,948,553...40,965,302
Ensembl chr 4:40,948,407...40,965,303 		JBrowse link
G Cimip2b ciliary microtubule inner protein 2B ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 4:43,427,014...43,431,451
Ensembl chr 4:43,427,019...43,429,134 		JBrowse link
G Clta clathrin light chain A ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 4:44,003,816...44,032,846
Ensembl chr 4:44,004,452...44,032,846 		JBrowse link
G Cntfr ciliary neurotrophic factor receptor ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 4:41,657,498...41,697,091
Ensembl chr 4:41,657,498...41,697,089 		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 chr 4:43,562,658...43,567,061
Ensembl chr 4:43,562,332...43,567,060 		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 chr 4:41,291,300...41,316,749
Ensembl chr 4:41,291,300...41,314,889 		JBrowse link
G Dctn3 dynactin 3 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 4:41,714,798...41,723,213
Ensembl chr 4:41,714,798...41,723,170 		JBrowse link
G Dnai1 dynein axonemal intermediate chain 1 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 4:41,569,731...41,638,158
Ensembl chr 4:41,569,775...41,638,158 		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 chr 4:40,722,468...40,734,965
Ensembl chr 4:40,722,150...40,737,149 		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 chr 4:42,949,866...42,959,425
Ensembl chr 4:42,949,814...42,959,425 		JBrowse link
G Enho energy homeostasis associated ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 4:41,638,144...41,640,302
Ensembl chr 4:41,638,144...41,640,324 		JBrowse link
G Exosc3 exosome component 3 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 4:45,316,613...45,320,616
Ensembl chr 4:45,316,613...45,342,732 		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 chr 4:41,517,691...41,569,538
Ensembl chr 4:41,517,691...41,569,538 		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 chr 4:43,659,622...43,668,859
Ensembl chr 4:43,659,622...43,669,145 		JBrowse link
G Fancg Fanconi anemia, complementation group G ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 4:43,002,337...43,010,565
Ensembl chr 4:43,002,343...43,010,506 		JBrowse link
G Fbxo10 F-box protein 10 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 4:45,034,248...45,084,555
Ensembl chr 4:45,034,247...45,084,604 		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 chr 4:45,183,958...45,285,936
Ensembl chr 4:45,184,875...45,285,936 		JBrowse link
G Galt galactose-1-phosphate uridyl transferase ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 4:41,755,517...41,759,243
Ensembl chr 4:41,755,228...41,758,695 		JBrowse link
G Gba2 glucosidase beta 2 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 4:43,566,928...43,578,893
Ensembl chr 4:43,566,928...43,578,873 		JBrowse link
G Glipr2 GLI pathogenesis-related 2 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 4:43,957,702...43,979,118
Ensembl chr 4:43,957,401...43,979,118 		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 chr 4:44,034,075...44,084,177
Ensembl chr 4:44,034,075...44,084,177 		JBrowse link
G Grhpr glyoxylate reductase/hydroxypyruvate reductase ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 4:44,981,394...44,990,734
Ensembl chr 4:44,981,395...44,990,734 		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 chr 4:43,654,227...43,656,445
Ensembl chr 4:43,654,227...43,656,466 		JBrowse link
G Hrct1 histidine rich carboxyl terminus 1 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 4:43,727,198...43,728,110
Ensembl chr 4:43,727,188...43,728,639 		JBrowse link
G Il11ra1 interleukin 11 receptor subunit alpha 1 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 4:41,760,443...41,769,473
Ensembl chr 4:41,699,989...41,769,474 		JBrowse link
G Kif24 kinesin family member 24 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 4:41,389,774...41,464,918
Ensembl chr 4:41,390,745...41,464,887 		JBrowse link
G Melk maternal embryonic leucine zipper kinase ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 4:44,300,876...44,364,301
Ensembl chr 4:44,300,876...44,364,675 		JBrowse link
G Msmp microseminoprotein, prostate associated ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 4:43,583,216...43,584,494
Ensembl chr 4:43,583,216...43,584,494 		JBrowse link
G Myorg myogenesis regulating glycosidase (putative) ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 4:41,495,601...41,503,132
Ensembl chr 4:41,495,604...41,503,076 		JBrowse link
G Ndufb6 NADH:ubiquinone oxidoreductase subunit B6 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 4:40,270,591...40,279,421
Ensembl chr 4:40,270,591...40,279,421 		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 chr 4:40,970,906...41,025,992
Ensembl chr 4:40,970,906...41,025,993 		JBrowse link
G Nol6 nucleolar protein family 6 (RNA-associated) ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 4:41,114,427...41,124,450
Ensembl chr 4:41,114,427...41,124,455 		JBrowse link
G Npr2 natriuretic peptide receptor 2 ISO
IAGP		 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
CTD Direct Evidence: marker/mechanism
OMIM:602875		 OMIM
ClinVar
CTD
MouseDO		 PMID:9536098 PMID:15146390 PMID:15572448 PMID:16199547 PMID:16384845 More... NCBI chr 4:43,629,015...43,651,437
Ensembl chr 4:43,631,935...43,651,244 		JBrowse link
G Nudt2 nudix hydrolase 2 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 4:41,465,085...41,480,926
Ensembl chr 4:41,465,151...41,480,926 		JBrowse link
G Or13c7 olfactory receptor family 13 subfamily C member 7 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 4:43,854,292...43,855,463
Ensembl chr 4:43,851,565...43,857,595 		JBrowse link
G Or13j1 olfactory receptor family 13 subfamily J member 1 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 4:43,705,628...43,706,566
Ensembl chr 4:43,704,562...43,710,255 		JBrowse link
G Pax5 paired box 5 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 4:44,524,748...44,710,694
Ensembl chr 4:44,524,757...44,710,487 		JBrowse link
G Phf24 PHD finger protein 24 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 4:42,872,619...42,944,752
Ensembl chr 4:42,916,660...42,944,752 		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 chr 4:43,016,964...43,026,369
Ensembl chr 4:43,017,635...43,025,819 		JBrowse link
G Polr1e polymerase (RNA) I polypeptide E ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 4:45,018,609...45,034,279
Ensembl chr 4:45,018,583...45,036,565 		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 chr 4:43,875,521...43,944,806
Ensembl chr 4:43,875,530...43,944,806 		JBrowse link
G Rgp1 RAB6A GEF compex partner 1 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 4:43,578,735...43,587,487
Ensembl chr 4:43,578,715...43,587,487 		JBrowse link
G Rigi RNA sensor RIG-I ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 4:40,203,775...40,239,843
Ensembl chr 4:40,203,773...40,239,828 		JBrowse link
G Rmrp RNA component of mitochondrial RNAase P ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 4:43,492,785...43,493,059
Ensembl chr 4:43,492,788...43,493,058
Ensembl chr 4:43,492,788...43,493,058 		JBrowse link
G Rnf38 ring finger protein 38 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 4:44,126,210...44,233,929
Ensembl chr 4:44,126,210...44,233,789 		JBrowse link
G Rpp25l ribonuclease P/MRP 25 subunit-like ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 4:41,712,033...41,713,517
Ensembl chr 4:41,712,033...41,713,534 		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 chr 4:43,377,202...43,427,088
Ensembl chr 4:43,381,979...43,427,088 		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 chr 4:41,738,493...41,741,359
Ensembl chr 4:41,738,493...41,756,157 		JBrowse link
G Sit1 suppression inducing transmembrane adaptor 1 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 4:43,482,083...43,483,709
Ensembl chr 4:43,482,081...43,483,734 		JBrowse link
G Smu1 smu-1 suppressor of mec-8 and unc-52 homolog (C. elegans) ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 4:40,735,649...40,757,885
Ensembl chr 4:40,736,542...40,757,923 		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 chr 4:43,651,330...43,653,594
Ensembl chr 4:43,651,335...43,653,594 		JBrowse link
G Spata31f1a spermatogenesis associated 31 subfamily F member 1A ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 4:42,848,067...42,856,138
Ensembl chr 4:42,848,071...42,853,888
Ensembl chr 4:42,848,071...42,853,888 		JBrowse link
G Spata31g1 SPATA31 subfamily G member 1 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 4:42,969,946...42,974,325
Ensembl chr 4:42,969,604...42,983,640 		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 chr 4:40,920,056...40,931,395
Ensembl chr 4:40,920,052...40,931,395 		JBrowse link
G Spmip6 sperm microtubule inner protein 6 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 4:41,505,005...41,517,333
Ensembl chr 4:41,505,009...41,517,333 		JBrowse link
G Stoml2 stomatin (Epb7.2)-like 2 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 4:43,027,690...43,031,402
Ensembl chr 4:43,027,690...43,031,710 		JBrowse link
G Tesk1 testis specific protein kinase 1 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 4:43,442,277...43,448,075
Ensembl chr 4:43,441,939...43,448,064 		JBrowse link
G Tln1 talin 1 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 4:43,531,513...43,562,583
Ensembl chr 4:43,531,519...43,562,691 		JBrowse link
G Tmem215 transmembrane protein 215 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 4:40,472,180...40,475,653
Ensembl chr 4:40,472,180...40,477,168 		JBrowse link
G Tmem8b transmembrane protein 8B ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 4:43,668,971...43,692,668
Ensembl chr 4:43,668,971...43,692,668 		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 chr 4:45,105,209...45,108,113
Ensembl chr 4:45,105,208...45,108,114 		JBrowse link
G Topors topoisomerase I binding, arginine/serine-rich ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 4:40,259,606...40,269,841
Ensembl chr 4:40,259,601...40,269,850 		JBrowse link
G Tpm2 tropomyosin 2, beta ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 4:43,513,726...43,523,583
Ensembl chr 4:43,514,711...43,523,765 		JBrowse link
G Trmt10b tRNA methyltransferase 10B ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 4:45,297,158...45,316,181
Ensembl chr 4:45,297,127...45,316,131 		JBrowse link
G Try4 trypsin 4 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 6:41,279,206...41,282,467
Ensembl chr 6:41,279,203...41,282,466 		JBrowse link
G Ubap1 ubiquitin-associated protein 1 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 4:41,348,996...41,389,766
Ensembl chr 4:41,348,996...41,390,525 		JBrowse link
G Ubap2 ubiquitin-associated protein 2 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 4:41,194,313...41,276,016
Ensembl chr 4:41,194,313...41,275,144 		JBrowse link
G Ube2r2 ubiquitin-conjugating enzyme E2R 2 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 4:41,136,021...41,193,370
Ensembl chr 4:41,135,743...41,193,380 		JBrowse link
G Unc13b unc-13 homolog B ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 4:43,046,193...43,264,873
Ensembl chr 4:43,058,953...43,264,871 		JBrowse link
G Vcp valosin containing protein ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 4:42,979,964...43,000,507
Ensembl chr 4:42,979,963...43,000,507 		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 chr 4:44,991,242...45,012,412
Ensembl chr 4:44,991,242...45,012,412 		JBrowse link
G Zcchc7 zinc finger, CCHC domain containing 7 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 4:44,756,556...44,932,215
Ensembl chr 4:44,755,877...44,932,215 		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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:15805157 PMID:22374147 PMID:24129431 PMID:25741868 PMID:25758993 More... NCBI chr 3:141,540,230...141,875,335
Ensembl chr 3:141,542,897...141,875,186 		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, type II ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 4 OMIM
ClinVar		 PMID:25741868 PMID:33106379 PMID:34782440 NCBI chr 5:99,077,632...99,185,042
Ensembl chr 5:99,077,632...99,185,210 		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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Geleophysic dwarfism		 CTD
ClinVar		 PMID:18677313 PMID:24014090 PMID:25741868 PMID:26879370 PMID:33369194 More... NCBI chr 2:26,969,348...26,998,993
Ensembl chr 2:26,969,391...26,998,993 		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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:627879 PMID:948948 PMID:960337 PMID:1852206 PMID:2005308 More... NCBI chr 2:125,142,514...125,348,417
Ensembl chr 2:125,142,514...125,349,913 		JBrowse link
G Smad2 SMAD family member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18677313 NCBI chr18:76,369,898...76,444,819
Ensembl chr18:76,374,651...76,444,034 		JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18677313 NCBI chr 7:25,386,406...25,404,503
Ensembl chr 7:25,386,427...25,404,502 		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 chr 1:181,642,880...181,669,933
Ensembl chr 1:181,642,900...181,670,611 		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 chr 4:43,496,139...43,508,747
Ensembl chr 4:43,496,142...43,499,695 		JBrowse link
G Arid3c AT-rich interaction domain 3C ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 4:41,723,830...41,731,226
Ensembl chr 4:41,723,836...41,731,142 		JBrowse link
G Atosb atos homolog B ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 4:43,032,414...43,046,220
Ensembl chr 4:43,032,414...43,046,220 		JBrowse link
G Car9 carbonic anhydrase 9 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 4:43,507,026...43,513,729
Ensembl chr 4:43,506,966...43,513,729 		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 chr 4:43,493,365...43,495,921
Ensembl chr 4:43,492,900...43,495,921 		JBrowse link
G Ccin calicin ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 4:43,983,504...43,985,533
Ensembl chr 4:43,983,483...43,985,423 		JBrowse link
G Ccl19 C-C motif chemokine ligand 19 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 4:42,754,525...42,756,558
Ensembl chr 4:42,754,525...42,756,577 		JBrowse link
G Ccl21a C-C motif chemokine ligand 21 (serine) ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 4:42,772,860...42,773,991
Ensembl chr 4:42,772,860...42,773,993 		JBrowse link
G Ccl27a C-C motif chemokine ligand 27A ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 4:41,769,467...41,774,251
Ensembl chr 4:41,769,467...41,774,247 		JBrowse link
G Cd72 CD72 antigen ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 4:43,447,724...43,454,708
Ensembl chr 4:43,446,462...43,454,628 		JBrowse link
G Cimip2b ciliary microtubule inner protein 2B ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 4:43,427,014...43,431,451
Ensembl chr 4:43,427,019...43,429,134 		JBrowse link
G Clta clathrin light chain A ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 4:44,003,816...44,032,846
Ensembl chr 4:44,004,452...44,032,846 		JBrowse link
G Cntfr ciliary neurotrophic factor receptor ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 4:41,657,498...41,697,091
Ensembl chr 4:41,657,498...41,697,089 		JBrowse link
G Creb3 cAMP responsive element binding protein 3 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 4:43,562,658...43,567,061
Ensembl chr 4:43,562,332...43,567,060 		JBrowse link
G Dctn3 dynactin 3 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 4:41,714,798...41,723,213
Ensembl chr 4:41,714,798...41,723,170 		JBrowse link
G Dnai1 dynein axonemal intermediate chain 1 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 4:41,569,731...41,638,158
Ensembl chr 4:41,569,775...41,638,158 		JBrowse link
G Dnajb5 DnaJ heat shock protein family (Hsp40) member B5 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 4:42,949,866...42,959,425
Ensembl chr 4:42,949,814...42,959,425 		JBrowse link
G Enho energy homeostasis associated ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 4:41,638,144...41,640,302
Ensembl chr 4:41,638,144...41,640,324 		JBrowse link
G Fam219a family with sequence similarity 219, member A ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 4:41,517,691...41,569,538
Ensembl chr 4:41,517,691...41,569,538 		JBrowse link
G Fam221b family with sequence similarity 221, member B ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 4:43,659,622...43,668,859
Ensembl chr 4:43,659,622...43,669,145 		JBrowse link
G Fancg Fanconi anemia, complementation group G ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 4:43,002,337...43,010,565
Ensembl chr 4:43,002,343...43,010,506 		JBrowse link
G Galt galactose-1-phosphate uridyl transferase ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 4:41,755,517...41,759,243
Ensembl chr 4:41,755,228...41,758,695 		JBrowse link
G Gba2 glucosidase beta 2 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 4:43,566,928...43,578,893
Ensembl chr 4:43,566,928...43,578,873 		JBrowse link
G Glipr2 GLI pathogenesis-related 2 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 4:43,957,702...43,979,118
Ensembl chr 4:43,957,401...43,979,118 		JBrowse link
G Gm21586 predicted gene, 21586 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 4:42,438,686...42,448,653
Ensembl chr 4:42,438,970...42,439,970 		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 chr 4:44,034,075...44,084,177
Ensembl chr 4:44,034,075...44,084,177 		JBrowse link
G Hint2 histidine triad nucleotide binding protein 2 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 4:43,654,227...43,656,445
Ensembl chr 4:43,654,227...43,656,466 		JBrowse link
G Hrct1 histidine rich carboxyl terminus 1 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 4:43,727,198...43,728,110
Ensembl chr 4:43,727,188...43,728,639 		JBrowse link
G Il11ra1 interleukin 11 receptor subunit alpha 1 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 4:41,760,443...41,769,473
Ensembl chr 4:41,699,989...41,769,474 		JBrowse link
G Msmp microseminoprotein, prostate associated ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 4:43,583,216...43,584,494
Ensembl chr 4:43,583,216...43,584,494 		JBrowse link
G Myorg myogenesis regulating glycosidase (putative) ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 4:41,495,601...41,503,132
Ensembl chr 4:41,495,604...41,503,076 		JBrowse link
G Npr2 natriuretic peptide receptor 2 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 4:43,629,015...43,651,437
Ensembl chr 4:43,631,935...43,651,244 		JBrowse link
G Or13c7 olfactory receptor family 13 subfamily C member 7 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 4:43,854,292...43,855,463
Ensembl chr 4:43,851,565...43,857,595 		JBrowse link
G Or13j1 olfactory receptor family 13 subfamily J member 1 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 4:43,705,628...43,706,566
Ensembl chr 4:43,704,562...43,710,255 		JBrowse link
G Phf24 PHD finger protein 24 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 4:42,872,619...42,944,752
Ensembl chr 4:42,916,660...42,944,752 		JBrowse link
G Pigo phosphatidylinositol glycan anchor biosynthesis, class O ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 4:43,016,964...43,026,369
Ensembl chr 4:43,017,635...43,025,819 		JBrowse link
G Reck reversion-inducing-cysteine-rich protein with kazal motifs ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 4:43,875,521...43,944,806
Ensembl chr 4:43,875,530...43,944,806 		JBrowse link
G Rgp1 RAB6A GEF compex partner 1 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 4:43,578,735...43,587,487
Ensembl chr 4:43,578,715...43,587,487 		JBrowse link
G Rmrp RNA component of mitochondrial RNAase P ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:8034306 PMID:8444246 PMID:9156319 PMID:10026268 PMID:11152140 More... NCBI chr 4:43,492,785...43,493,059
Ensembl chr 4:43,492,788...43,493,058
Ensembl chr 4:43,492,788...43,493,058 		JBrowse link
G Rpp25l ribonuclease P/MRP 25 subunit-like ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 4:41,712,033...41,713,517
Ensembl chr 4:41,712,033...41,713,534 		JBrowse link
G Rusc2 RUN and SH3 domain containing 2 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 4:43,377,202...43,427,088
Ensembl chr 4:43,381,979...43,427,088 		JBrowse link
G Sigmar1 sigma non-opioid intracellular receptor 1 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 4:41,738,493...41,741,359
Ensembl chr 4:41,738,493...41,756,157 		JBrowse link
G Sit1 suppression inducing transmembrane adaptor 1 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 4:43,482,083...43,483,709
Ensembl chr 4:43,482,081...43,483,734 		JBrowse link
G Spaar small regulatory polypeptide of amino acid response ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 4:43,730,045...43,732,084
Ensembl chr 4:43,730,034...43,759,462 		JBrowse link
G Spag8 sperm associated antigen 8 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 4:43,651,330...43,653,594
Ensembl chr 4:43,651,335...43,653,594 		JBrowse link
G Spata31f1a spermatogenesis associated 31 subfamily F member 1A ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 4:42,848,067...42,856,138
Ensembl chr 4:42,848,071...42,853,888
Ensembl chr 4:42,848,071...42,853,888 		JBrowse link
G Spata31f3 spermatogenesis associated 31 subfamily F member 3 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 4:42,867,999...42,874,234
Ensembl chr 4:42,868,004...42,874,234 		JBrowse link
G Spata31g1 SPATA31 subfamily G member 1 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 4:42,969,946...42,974,325
Ensembl chr 4:42,969,604...42,983,640 		JBrowse link
G Spmip6 sperm microtubule inner protein 6 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 4:41,505,005...41,517,333
Ensembl chr 4:41,505,009...41,517,333 		JBrowse link
G Stoml2 stomatin (Epb7.2)-like 2 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 4:43,027,690...43,031,402
Ensembl chr 4:43,027,690...43,031,710 		JBrowse link
G Tesk1 testis specific protein kinase 1 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 4:43,442,277...43,448,075
Ensembl chr 4:43,441,939...43,448,064 		JBrowse link
G Tln1 talin 1 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 4:43,531,513...43,562,583
Ensembl chr 4:43,531,519...43,562,691 		JBrowse link
G Tmem8b transmembrane protein 8B ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 4:43,668,971...43,692,668
Ensembl chr 4:43,668,971...43,692,668 		JBrowse link
G Tpm2 tropomyosin 2, beta ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 4:43,513,726...43,523,583
Ensembl chr 4:43,514,711...43,523,765 		JBrowse link
G Unc13b unc-13 homolog B ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 4:43,046,193...43,264,873
Ensembl chr 4:43,058,953...43,264,871 		JBrowse link
G Vcp valosin containing protein ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 4:42,979,964...43,000,507
Ensembl chr 4:42,979,963...43,000,507 		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 chr 4:43,493,365...43,495,921
Ensembl chr 4:43,492,900...43,495,921 		JBrowse link
G Pop1 processing of precursor 1, ribonuclease P/MRP family, (S. cerevisiae) ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr15:34,495,457...34,530,799
Ensembl chr15:34,495,450...34,530,794 		JBrowse link
G Rmrp RNA component of mitochondrial RNAase P ISO ClinVar Annotator: match by term: Anauxetic dysplasia 1 | ClinVar Annotator: match by term: SPONDYLOMETAEPIPHYSEAL DYSPLASIA, ANAUXETIC TYPE | ClinVar Annotator: match by term: Spondylometaepiphyseal dysplasia Menger type
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:8034306 PMID:8444246 PMID:8723091 PMID:9156319 PMID:10026268 More... NCBI chr 4:43,492,785...43,493,059
Ensembl chr 4:43,492,788...43,493,058
Ensembl chr 4:43,492,788...43,493,058 		JBrowse link
anauxetic dysplasia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pop1 processing of precursor 1, ribonuclease P/MRP family, (S. cerevisiae) 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 chr15:34,495,457...34,530,799
Ensembl chr15:34,495,450...34,530,794 		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 chr16:44,544,645...44,559,994
Ensembl chr16:44,544,664...44,557,647 		JBrowse link
asphyxiating thoracic dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 2700049A03Rik RIKEN cDNA 2700049A03 gene ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Jeune thoracic dystrophy		 CTD
ClinVar		 PMID:25741868 NCBI chr12:71,183,627...71,356,273
Ensembl chr12:71,183,622...71,290,077 		JBrowse link
G 4933427D14Rik RIKEN cDNA 4933427D14 gene ISO ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar PMID:25741868 PMID:28492532 PMID:29138412 PMID:31816441 PMID:34529350 NCBI chr11:72,044,755...72,098,308
Ensembl chr11:72,044,755...72,098,285
Ensembl chr11:72,044,755...72,098,285 		JBrowse link
G B9d1 B9 protein domain 1 ISO ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar PMID:25741868 NCBI chr11:61,395,970...61,403,757
Ensembl chr11:61,395,970...61,403,757 		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 chr 9:7,818,227...7,837,123
Ensembl chr 9:7,818,228...7,837,065 		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 chr 9:7,848,698...7,873,199
Ensembl chr 9:7,848,700...7,873,187 		JBrowse link
G C2cd3 C2 calcium-dependent domain containing 3 ISO ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar PMID:25741868 PMID:26092869 NCBI chr 7:100,021,440...100,119,366
Ensembl chr 7:100,021,440...100,119,359 		JBrowse link
G Cep120 centrosomal protein 120 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr18:53,814,795...53,877,825
Ensembl chr18:53,814,795...53,877,680 		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 chr 9:8,076,461...8,134,473
Ensembl chr 9:8,076,462...8,134,295 		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 chr 9:8,021,673...8,042,876
Ensembl chr 9:8,021,673...8,042,824 		JBrowse link
G Cilk1 ciliogenesis associated kinase 1 ISO ClinVar Annotator: match by term: Short rib-polydactyly syndrome ClinVar PMID:27466187 NCBI chr 9:78,016,425...78,079,396
Ensembl chr 9:78,016,474...78,079,389 		JBrowse link
G Col2a1 collagen, type II, alpha 1 ISO ClinVar Annotator: match by term: Short ribs ClinVar PMID:7695699 PMID:8218237 PMID:9016532 PMID:17078022 PMID:19344236 More... NCBI chr15:97,873,483...97,902,525
Ensembl chr15:97,873,483...97,902,576 		JBrowse link
G Csrnp3 cysteine-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 chr 2:65,675,628...65,866,958
Ensembl chr 2:65,676,111...65,861,890 		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 chr 9:7,176,590...7,220,880
Ensembl chr 9:7,184,520...7,208,205 		JBrowse link
G Dync2h1 dynein cytoplasmic 2 heavy chain 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Jeune thoracic dystrophy | ClinVar Annotator: match by term: Short rib-polydactyly syndrome
DNA:missense mutations:cds:multiple(human)		 CTD
ClinVar
RGD		 PMID:6938784 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19361615 More... RGD:11072153 NCBI chr 9:6,928,550...7,177,619
Ensembl chr 9:6,928,503...7,184,446 		JBrowse link
G Dync2i1 dynein 2 intermediate chain 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Jeune thoracic dystrophy		 CTD
ClinVar		 PMID:25741868 PMID:28492532 PMID:29068549 NCBI chr12:116,169,881...116,226,665
Ensembl chr12:116,169,882...116,226,642 		JBrowse link
G Dync2i2 dynein 2 intermediate chain 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Jeune thoracic dystrophy		 CTD
ClinVar		 PMID:19610081 PMID:24183451 PMID:25741868 PMID:28492532 PMID:29068549 More... NCBI chr 2:29,921,563...29,938,891
Ensembl chr 2:29,921,558...29,938,893 		JBrowse link
G Dync2li1 dynein cytoplasmic 2 light intermediate chain 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr17:84,933,903...84,962,996
Ensembl chr17:84,933,924...84,963,016 		JBrowse link
G Dynlt2b dynein light chain Tctex-type 2B ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr16:32,238,520...32,247,917
Ensembl chr16:32,238,520...32,247,917 		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 chr 5:37,495,801...37,582,399
Ensembl chr 5:37,495,843...37,582,399 		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 chr 5:33,879,068...33,894,412
Ensembl chr 5:33,879,018...33,894,412 		JBrowse link
G Flvcr1 feline leukemia virus subgroup C cellular receptor 1 ISO ClinVar Annotator: match by term: Jeune thoracic dystrophy | ClinVar Annotator: match by term: Short rib-polydactyly syndrome ClinVar PMID:27666822 NCBI chr 1:190,738,029...190,758,387
Ensembl chr 1:190,738,044...190,758,355 		JBrowse link
G Fuz fuzzy planar cell polarity protein ISO ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar PMID:29068549 NCBI chr 7:44,545,517...44,552,053
Ensembl chr 7:44,545,503...44,552,055 		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 chr 2:65,913,110...65,955,217
Ensembl chr 2:65,913,110...65,955,338 		JBrowse link
G Gm19324 predicted gene, 19324 ISO ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar PMID:23339108 PMID:24781753 PMID:28492532 PMID:31413057 PMID:32753734 NCBI chr 9:8,142,542...8,181,113
Ensembl chr 9:8,142,596...8,185,168 		JBrowse link
G Grk2 G protein-coupled receptor kinase 2 ISO ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar PMID:33200460 NCBI chr19:4,336,029...4,356,356
Ensembl chr19:4,336,029...4,356,250 		JBrowse link
G Ift140 intraflagellar transport 140 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Jeune thoracic dystrophy		 CTD
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22503633 PMID:23418020 More... NCBI chr17:25,235,056...25,318,461
Ensembl chr17:25,235,059...25,318,469 		JBrowse link
G Ift172 intraflagellar transport 172 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 5:31,410,623...31,448,458
Ensembl chr 5:31,410,621...31,448,460 		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 chr12:86,129,335...86,209,233
Ensembl chr12:86,129,315...86,209,233 		JBrowse link
G Ift52 intraflagellar transport 52 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Jeune thoracic dystrophy | ClinVar Annotator: match by term: Short rib-polydactyly syndrome		 CTD
ClinVar		 PMID:27466190 PMID:28492532 PMID:29068549 NCBI chr 2:162,859,200...162,888,075
Ensembl chr 2:162,859,274...162,888,061 		JBrowse link
G Ift74 intraflagellar transport 74 ISO ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar PMID:29068549 NCBI chr 4:94,491,503...94,581,470
Ensembl chr 4:94,502,728...94,581,466 		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 chr 3:68,799,832...68,911,939
Ensembl chr 3:68,799,832...68,911,892 		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 chr 5:122,678,328...122,752,614
Ensembl chr 5:122,688,267...122,752,581 		JBrowse link
G Ift88 intraflagellar transport 88 ISO ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar PMID:29068549 NCBI chr14:57,661,519...57,755,393
Ensembl chr14:57,661,519...57,755,393 		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 chr 3:40,585,559...40,659,206
Ensembl chr 3:40,585,435...40,659,204 		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 chr 1:181,642,880...181,669,933
Ensembl chr 1:181,642,900...181,670,611 		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 chr12:8,997,929...9,022,028
Ensembl chr12:8,997,929...9,022,028 		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 chr 9:7,502,343...7,510,243
Ensembl chr 9:7,502,353...7,510,241 		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 chr 9:7,344,397...7,360,461
Ensembl chr 9:7,344,381...7,369,499 		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 chr 9:7,272,514...7,283,333
Ensembl chr 9:7,272,514...7,283,331 		JBrowse link
G Mmp1b matrix metallopeptidase 1b (interstitial collagenase) ISO ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar PMID:23339108 PMID:24781753 PMID:28492532 PMID:31413057 PMID:32753734 NCBI chr 9:7,367,670...7,388,026
Ensembl chr 9:7,368,239...7,388,047 		JBrowse link
G Mmp20 matrix metallopeptidase 20 (enamelysin) ISO ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar PMID:23339108 PMID:24781753 PMID:28492532 PMID:31413057 PMID:32753734 NCBI chr 9:7,628,232...7,674,969
Ensembl chr 9:7,628,232...7,674,980 		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 chr 9:7,571,397...7,581,886
Ensembl chr 9:7,571,397...7,581,886 		JBrowse link
G Mmp3 matrix metallopeptidase 3 ISO ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar PMID:23339108 PMID:24781753 PMID:28492532 PMID:31413057 PMID:32753734 NCBI chr 9:7,445,845...7,455,975
Ensembl chr 9:7,445,822...7,455,975 		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 chr 9:7,692,095...7,699,587
Ensembl chr 9:7,692,091...7,699,587 		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 chr 9:7,558,430...7,568,487
Ensembl chr 9:7,558,457...7,568,486 		JBrowse link
G Nek1 NIMA (never in mitosis gene a)-related expressed kinase 1 ISO DNA:missense, frameshift, nonsense mutations:cds,splice junction:
ClinVar Annotator: match by term: Jeune thoracic dystrophy | ClinVar Annotator: match by term: Short rib-polydactyly syndrome
CTD Direct Evidence: marker/mechanism
DNA:nonsense, transition mutations:cds,splice junction:c.379C>T (p.R127X,)c.869-2A>G (human)		 ClinVar
CTD
RGD		 PMID:21211617 PMID:22482978 PMID:22499340 PMID:23757202 PMID:25741868 More... RGD:11072153, RGD:11069733 NCBI chr 8:61,446,184...61,584,383
Ensembl chr 8:61,446,229...61,584,380 		JBrowse link
G Rab34 RAB34, member RAS oncogene family ISO ClinVar Annotator: match by term: Jeune's syndrome ClinVar PMID:25741868 PMID:37619988 NCBI chr11:78,079,253...78,083,019
Ensembl chr11:78,079,256...78,083,019 		JBrowse link
G Scn1a sodium channel, voltage-gated, type I, alpha ISO ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More... NCBI chr 2:66,101,125...66,271,181
Ensembl chr 2:66,101,122...66,271,184 		JBrowse link
G Scn2a sodium channel, voltage-gated, type II, alpha ISO ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More... NCBI chr 2:65,451,108...65,597,791
Ensembl chr 2:65,451,115...65,597,791 		JBrowse link
G Scn3a sodium channel, voltage-gated, type III, alpha ISO ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More... NCBI chr 2:65,287,462...65,397,935
Ensembl chr 2:65,288,607...65,397,971 		JBrowse link
G Scn9a sodium channel, voltage-gated, type IX, alpha ISO ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More... NCBI chr 2:66,310,424...66,465,456
Ensembl chr 2:66,310,424...66,465,306 		JBrowse link
G Sltm SAFB-like, transcription modulator ISO ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar PMID:27666822 NCBI chr 9:70,449,717...70,499,519
Ensembl chr 9:70,450,036...70,499,516 		JBrowse link
G Smarcad1 SNF2 related chromatin remodeling ATPase with DExD box 1 IAGP MouseDO NCBI chr 6:65,019,577...65,093,045
Ensembl chr 6:65,019,567...65,093,045 		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 chr 2:29,855,572...29,921,463
Ensembl chr 2:29,855,572...29,921,463 		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 chr 9:7,764,078...7,794,334
Ensembl chr 9:7,764,042...7,794,334 		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 chr 1:91,422,311...91,457,029
Ensembl chr 1:91,422,369...91,457,029 		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 chr 9:8,543,868...8,680,753
Ensembl chr 9:8,544,143...8,680,742 		JBrowse link
G Ttc21b tetratricopeptide repeat domain 21B ISO CTD Direct Evidence: marker/mechanism
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		 CTD
ClinVar		 PMID:9536098 PMID:15133511 PMID:16199547 PMID:16865694 PMID:17347258 More... NCBI chr 2:66,014,131...66,087,144
Ensembl chr 2:66,014,671...66,086,961 		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 chr 5:65,357,039...65,417,758
Ensembl chr 5:65,357,039...65,417,758 		JBrowse link
G Wdr35 WD repeat domain 35 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Jeune thoracic dystrophy | ClinVar Annotator: match by term: Short rib-polydactyly syndrome		 CTD
ClinVar		 PMID:22486404 PMID:24033266 PMID:25741868 PMID:25914204 PMID:27158779 More... NCBI chr12:9,023,897...9,078,848
Ensembl chr12:9,023,892...9,078,847 		JBrowse link
G Yap1 yes-associated protein 1 ISO ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar PMID:23339108 PMID:24781753 PMID:28492532 PMID:31413057 PMID:32753734 NCBI chr 9:7,932,000...8,004,890
Ensembl chr 9:7,932,000...8,004,597 		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 chr17:84,965,602...84,990,439
Ensembl chr17:84,965,662...84,990,439 		JBrowse link
G Csrnp3 cysteine-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 chr 2:65,675,628...65,866,958
Ensembl chr 2:65,676,111...65,861,890 		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 chr 9:6,928,550...7,177,619
Ensembl chr 9:6,928,503...7,184,446 		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 chr12:116,169,881...116,226,665
Ensembl chr12:116,169,882...116,226,642 		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 chr17:84,933,903...84,962,996
Ensembl chr17:84,933,924...84,963,016 		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 chr 5:37,495,801...37,582,399
Ensembl chr 5:37,495,843...37,582,399 		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 chr 2:65,913,110...65,955,217
Ensembl chr 2:65,913,110...65,955,338 		JBrowse link
G Ift140 intraflagellar transport 140 IAGP
ISO		 OMIM:208500
ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome | ClinVar Annotator: match by term: Short-rib thoracic dysplasia 1 with or without polydactyly		 MouseDO
ClinVar		 PMID:9536098 PMID:17576681 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr17:25,235,056...25,318,461
Ensembl chr17:25,235,059...25,318,469 		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 chr 5:31,410,623...31,448,458
Ensembl chr 5:31,410,621...31,448,460 		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 chr 3:68,799,832...68,911,939
Ensembl chr 3:68,799,832...68,911,892 		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 chr 1:181,642,880...181,669,933
Ensembl chr 1:181,642,900...181,670,611 		JBrowse link
G Nek1 NIMA (never in mitosis gene a)-related expressed kinase 1 ISO ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 1 ClinVar PMID:25741868 NCBI chr 8:61,446,184...61,584,383
Ensembl chr 8:61,446,229...61,584,380 		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 chr11:78,079,253...78,083,019
Ensembl chr11:78,079,256...78,083,019 		JBrowse link
G Scn1a sodium channel, voltage-gated, type I, alpha ISO ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome ClinVar PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More... NCBI chr 2:66,101,125...66,271,181
Ensembl chr 2:66,101,122...66,271,184 		JBrowse link
G Scn2a sodium channel, voltage-gated, type II, alpha ISO ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome ClinVar PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More... NCBI chr 2:65,451,108...65,597,791
Ensembl chr 2:65,451,115...65,597,791 		JBrowse link
G Scn3a sodium channel, voltage-gated, type III, alpha ISO ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome ClinVar PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More... NCBI chr 2:65,287,462...65,397,935
Ensembl chr 2:65,288,607...65,397,971 		JBrowse link
G Scn9a sodium channel, voltage-gated, type IX, alpha ISO ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome ClinVar PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More... NCBI chr 2:66,310,424...66,465,456
Ensembl chr 2:66,310,424...66,465,306 		JBrowse link
G Ttc21b tetratricopeptide repeat domain 21B ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome		 CTD
ClinVar		 PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More... NCBI chr 2:66,014,131...66,087,144
Ensembl chr 2:66,014,671...66,086,961 		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 chr 5:65,357,039...65,417,758
Ensembl chr 5:65,357,039...65,417,758 		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
IAGP		 ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 2 | ClinVar Annotator: match by term: SHORT-RIB THORACIC DYSPLASIA 2 WITH OR WITHOUT POLYDACTYLY
CTD Direct Evidence: marker/mechanism
OMIM:611263		 OMIM
ClinVar
CTD
MouseDO		 PMID:9536098 PMID:16199547 PMID:17468754 PMID:17576681 PMID:19610081 More... NCBI chr 3:68,799,832...68,911,939
Ensembl chr 3:68,799,832...68,911,892 		JBrowse link
asphyxiating thoracic dystrophy 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bag3 BCL2-associated athanogene 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 chr 7:128,125,307...128,148,705
Ensembl chr 7:128,125,340...128,148,705 		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 chr12:110,567,829...110,633,378
Ensembl chr12:110,567,886...110,633,379 		JBrowse link
G Dync2h1 dynein cytoplasmic 2 heavy chain 1 ISO
IAGP		 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
CTD Direct Evidence: marker/mechanism
OMIM:613091		 OMIM
ClinVar
CTD
MouseDO		 PMID:6938784 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19361615 More... NCBI chr 9:6,928,550...7,177,619
Ensembl chr 9:6,928,503...7,184,446 		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 chr12:116,169,881...116,226,665
Ensembl chr12:116,169,882...116,226,642 		JBrowse link
G Dync2i2 dynein 2 intermediate chain 2 ISO ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 3 ClinVar PMID:29068549 NCBI chr 2:29,921,563...29,938,891
Ensembl chr 2:29,921,558...29,938,893 		JBrowse link
G Dynlt2b dynein light chain Tctex-type 2B ISO ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 3 ClinVar PMID:25741868 NCBI chr16:32,238,520...32,247,917
Ensembl chr16:32,238,520...32,247,917 		JBrowse link
G Fam98c family with sequence similarity 98, member C ISO ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 3 ClinVar NCBI chr 7:28,851,935...28,855,653
Ensembl chr 7:28,851,935...28,855,659 		JBrowse link
G Ift80 intraflagellar transport 80 IAGP OMIM:613091 MouseDO NCBI chr 3:68,799,832...68,911,939
Ensembl chr 3:68,799,832...68,911,892 		JBrowse link
G Kif24 kinesin family member 24 ISO ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 3 ClinVar NCBI chr 4:41,389,774...41,464,918
Ensembl chr 4:41,390,745...41,464,887 		JBrowse link
G Nek1 NIMA (never in mitosis gene a)-related expressed 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 chr 8:61,446,184...61,584,383
Ensembl chr 8:61,446,229...61,584,380 		JBrowse link
G Tmem256 transmembrane protein 256 ISO ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 3 ClinVar NCBI chr11:69,729,375...69,730,813
Ensembl chr11:69,729,340...69,730,444 		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 chr 2:66,014,131...66,087,144
Ensembl chr 2:66,014,671...66,086,961 		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 chr 5:65,357,039...65,417,758
Ensembl chr 5:65,357,039...65,417,758 		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 (sulfate transporter), member 2 ISO ClinVar Annotator: match by term: Atelosteogenesis ClinVar NCBI chr18:61,329,926...61,344,668
Ensembl chr18:61,325,991...61,344,684 		JBrowse link
Atelosteogenesis Type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Flnb filamin, beta ISO ClinVar Annotator: match by term: Atelosteogenesis type I | ClinVar Annotator: match by term: Spondylohumerofemoral hypoplasia
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:14991055 PMID:16752402 PMID:20301736 PMID:22190451 PMID:24624349 More... NCBI chr14:14,518,185...14,651,852
Ensembl chr14:14,518,185...14,651,816 		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 (sulfate transporter), 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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:4644462 PMID:7695699 PMID:7923357 PMID:8218237 PMID:8528239 More... NCBI chr18:61,329,926...61,344,668
Ensembl chr18:61,325,991...61,344,684 		JBrowse link
Atelosteogenesis Type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Flnb filamin, beta 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 chr14:14,518,185...14,651,852
Ensembl chr14:14,518,185...14,651,816 		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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:17853455 PMID:21221996 PMID:25741868 NCBI chr11:101,853,284...101,857,841
Ensembl chr11:101,853,284...101,857,841 		JBrowse link
autosomal dominant craniometaphyseal dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ank progressive ankylosis ISO ClinVar Annotator: match by term: Craniometadiaphyseal dysplasia wormian bone type | ClinVar Annotator: match by term: Craniometaphyseal dysplasia, autosomal dominant
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD
RGD		 PMID:2712793 PMID:11326272 PMID:11326338 PMID:19449425 PMID:20358596 More... RGD:734571 NCBI chr15:27,466,763...27,594,995
Ensembl chr15:27,466,763...27,594,995 		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 chr15:27,606,005...27,630,793
Ensembl chr15:27,542,721...27,630,779 		JBrowse link
autosomal dominant osteopetrosis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clcnkb chloride channel, voltage-sensitive Kb ISO ClinVar Annotator: match by term: Autosomal dominant osteopetrosis 1 ClinVar PMID:25741868 NCBI chr 4:141,131,668...141,143,440
Ensembl chr 4:141,131,664...141,143,325 		JBrowse link
G Lrp5 low density lipoprotein receptor-related protein 5 ISO ClinVar Annotator: match by term: Autosomal dominant osteopetrosis 1 | ClinVar Annotator: match by term: OSTEOPETROSIS, AUTOSOMAL DOMINANT, TYPE I
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:1002767 PMID:9536098 PMID:10434540 PMID:11701785 PMID:11719191 More... NCBI chr19:3,634,825...3,736,574
Ensembl chr19:3,634,828...3,736,564 		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 channel, voltage-sensitive 7 ISO
IAGP		 ClinVar Annotator: match by term: ALBERS-SCHONBERG DISEASE, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Autosomal dominant osteopetrosis 2
OMIM:166600		 OMIM
ClinVar
MouseDO		 PMID:1516225 PMID:9536098 PMID:11468688 PMID:11741829 PMID:14584882 More... NCBI chr17:25,352,353...25,381,077
Ensembl chr17:25,352,365...25,381,078 		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 domain containing, family M (with RUN domain) member 1 ISO ClinVar Annotator: match by term: Osteopetrosis, autosomal dominant 3 OMIM
ClinVar		 PMID:17997709 PMID:25741868 NCBI chr11:103,255,101...103,303,531
Ensembl chr11:103,255,101...103,303,513 		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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Craniometaphyseal dysplasia, autosomal recessive		 OMIM
CTD
ClinVar		 PMID:11146471 PMID:23951358 PMID:25741868 PMID:28492532 NCBI chr10:56,253,297...56,266,519
Ensembl chr10:56,253,426...56,278,609 		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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:16199547 PMID:19836010 PMID:22829427 PMID:24033266 PMID:25741868 More... NCBI chr 7:27,004,566...27,039,142
Ensembl chr 7:27,004,561...27,037,117 		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 IAGP OMIM:259700 MouseDO NCBI chr17:25,381,142...25,390,887
Ensembl chr17:25,381,435...25,390,887 		JBrowse link
G Plekhm1 pleckstrin homology domain containing, family M (with RUN domain) member 1 ISO ClinVar Annotator: match by term: Autosomal recessive osteopetrosis 1 ClinVar PMID:35342016 PMID:36195244 NCBI chr11:103,255,101...103,303,531
Ensembl chr11:103,255,101...103,303,513 		JBrowse link
G Tcirg1 T cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 protein A3 ISO
IAGP		 DNA:deletions, snps:exons:multiple (human)
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
CTD Direct Evidence: marker/mechanism
OMIM:259700		 ClinVar
CTD
MouseDO
OMIM
RGD		 PMID:9506970 PMID:9536098 PMID:10888887 PMID:10942435 PMID:11532986 More... RGD:1599350 NCBI chr19:3,946,050...3,957,717
Ensembl chr19:3,946,050...3,957,133 		JBrowse link
autosomal recessive osteopetrosis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tnfsf11 tumor necrosis factor (ligand) superfamily, member 11 ISO
IAGP		 ClinVar Annotator: match by term: Autosomal recessive osteopetrosis 2 | ClinVar Annotator: match by term: Osteopetrosis osteoclast-poor
OMIM:259710		 OMIM
ClinVar
MouseDO		 PMID:17632511 PMID:20499338 PMID:21541994 PMID:23762088 PMID:25741868 More... NCBI chr14:78,514,886...78,545,483
Ensembl chr14:78,514,885...78,545,483 		JBrowse link
autosomal recessive osteopetrosis 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Car2 carbonic anhydrase 2 ISO
IAGP		 ClinVar Annotator: match by term: Osteopetrosis with renal tubular acidosis
CTD Direct Evidence: marker/mechanism
OMIM:259730		 OMIM
ClinVar
CTD
MouseDO		 PMID:1301935 PMID:1542674 PMID:1928091 PMID:4624444 PMID:5041390 More... NCBI chr 3:14,951,329...14,965,830
Ensembl chr 3:14,951,333...14,965,830 		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 channel, voltage-sensitive 7 ISO
IAGP		 ClinVar Annotator: match by term: Autosomal recessive osteopetrosis 4 | ClinVar Annotator: match by term: Osteopetrosis infantile malignant 2
CTD Direct Evidence: marker/mechanism
OMIM:611490		 OMIM
ClinVar
CTD
MouseDO		 PMID:1516225 PMID:11207362 PMID:11468688 PMID:11741829 PMID:14584882 More... NCBI chr17:25,352,353...25,381,077
Ensembl chr17:25,352,365...25,381,078 		JBrowse link
autosomal recessive osteopetrosis 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ostm1 osteopetrosis associated transmembrane protein 1 ISO
IAGP		 ClinVar Annotator: match by term: Autosomal recessive osteopetrosis 5 | ClinVar Annotator: match by term: Osteopetrosis infantile malignant 3
CTD Direct Evidence: marker/mechanism
OMIM:259720		 OMIM
ClinVar
CTD
MouseDO		 PMID:12627228 PMID:16813530 PMID:25741868 PMID:28492532 PMID:28612835 More... NCBI chr10:42,554,912...42,578,458
Ensembl chr10:42,459,818...42,578,455 		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 domain containing, family M (with RUN domain) member 1 ISO
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Autosomal recessive osteopetrosis 6
OMIM:611497		 OMIM
CTD
ClinVar
MouseDO		 PMID:17404618 PMID:25741868 NCBI chr11:103,255,101...103,303,531
Ensembl chr11:103,255,101...103,303,513 		JBrowse link
autosomal recessive osteopetrosis 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tnfrsf11a tumor necrosis factor receptor superfamily, member 11a, NFKB activator ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Autosomal recessive osteoclast-poor osteopetrosis with hypogammaglobulinemia | ClinVar Annotator: match by term: Autosomal recessive osteopetrosis 7		 OMIM
CTD
ClinVar		 PMID:9536098 PMID:15231021 PMID:17576681 PMID:18606301 PMID:19940926 More... NCBI chr 1:105,708,443...105,777,172
Ensembl chr 1:105,708,443...105,775,709 		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
IAGP		 ClinVar Annotator: match by term: Autosomal recessive osteopetrosis 8
OMIM:615085		 OMIM
ClinVar
MouseDO		 PMID:22499339 PMID:23123320 PMID:23280965 PMID:25212774 PMID:25590979 More... NCBI chr 6:51,500,882...51,567,659
Ensembl chr 6:51,500,881...51,567,659 		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 (anion exchanger), member 2 ISO ClinVar Annotator: match by term: Osteopetrosis, autosomal recessive 9 OMIM
ClinVar		 PMID:25741868 PMID:34668226 NCBI chr 5:24,628,834...24,645,945
Ensembl chr 5:24,628,835...24,645,948 		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 chr10:39,026,966...39,049,484
Ensembl chr10:39,026,966...39,039,790 		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 chr10:77,814,364...77,821,272
Ensembl chr10:77,814,358...77,822,739 		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 chr 9:6,928,550...7,177,619
Ensembl chr 9:6,928,503...7,184,446 		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 chr 5:37,495,801...37,582,399
Ensembl chr 5:37,495,843...37,582,399 		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 chr 3:68,799,832...68,911,939
Ensembl chr 3:68,799,832...68,911,892 		JBrowse link
G Nek1 NIMA (never in mitosis gene a)-related expressed kinase 1 ISO ClinVar Annotator: match by term: Type IV short rib polydactyly syndrome ClinVar PMID:25741868 PMID:29068549 NCBI chr 8:61,446,184...61,584,383
Ensembl chr 8:61,446,229...61,584,380 		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 chr 2:66,014,131...66,087,144
Ensembl chr 2:66,014,671...66,086,961 		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 chr 5:65,357,039...65,417,758
Ensembl chr 5:65,357,039...65,417,758 		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 chr 8:46,449,945...46,452,904
Ensembl chr 8:46,449,939...46,458,744 		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 chr 8:46,387,980...46,428,290
Ensembl chr 8:46,406,643...46,428,477 		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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:2389793 PMID:21228277 PMID:25741868 PMID:26428751 PMID:28492532 More... NCBI chr 8:46,428,551...46,449,995
Ensembl chr 8:46,428,565...46,449,995 		JBrowse link
Boomerang dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Flnb filamin, beta ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Boomerang dysplasia | ClinVar Annotator: match by term: Boomerang-like skeletal dysplasia		 OMIM
CTD
ClinVar		 PMID:12955767 PMID:14991055 PMID:17510210 PMID:25741868 PMID:28492532 NCBI chr14:14,518,185...14,651,852
Ensembl chr14:14,518,185...14,651,816 		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 chr19:5,790,928...5,808,564
Ensembl chr19:5,790,932...5,808,560 		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 chr19:32,573,072...32,644,587
Ensembl chr19:32,573,190...32,644,587 		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 chr 5:114,760,213...114,796,497
Ensembl chr 5:114,760,213...114,796,482 		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 chr 5:114,760,213...114,796,497
Ensembl chr 5:114,760,213...114,796,482 		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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:4056805 PMID:8179305 PMID:18587396 PMID:19661060 PMID:19666518 More... NCBI chr 5:114,760,213...114,796,497
Ensembl chr 5:114,760,213...114,796,482 		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
IAGP		 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
CTD Direct Evidence: marker/mechanism
OMIM:601216		 OMIM
ClinVar
CTD
MouseDO		 PMID:9536098 PMID:11790802 PMID:16199547 PMID:17576681 PMID:19213025 More... NCBI chr19:5,790,928...5,808,564
Ensembl chr19:5,790,932...5,808,560 		JBrowse link
G Scyl1 SCY1-like 1 (S. cerevisiae) ISO ClinVar Annotator: match by term: Brachyolmia-amelogenesis imperfecta syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr19:5,808,450...5,821,461
Ensembl chr19:5,808,379...5,821,447 		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 chr 9:122,780,146...122,847,798
Ensembl chr 9:122,780,111...122,847,798 		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 chr18:61,238,644...61,264,211
Ensembl chr18:61,233,670...61,265,221 		JBrowse link
Bronchomalacia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ryr1 ryanodine receptor 1, skeletal muscle ISO ClinVar Annotator: match by term: Bronchomalacia ClinVar PMID:16835904 PMID:24033266 PMID:25741868 NCBI chr 7:28,702,765...28,824,599
Ensembl chr 7:28,702,769...28,824,604 		JBrowse link
Bruck syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fkbp10 FK506 binding protein 10 ISO ClinVar Annotator: match by term: Bruck syndrome ClinVar PMID:16199547 PMID:22689593 PMID:22949511 PMID:25741868 PMID:28492532 More... NCBI chr11:100,306,520...100,315,666
Ensembl chr11:100,306,523...100,315,650 		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 chr 9:92,421,828...92,490,481
Ensembl chr 9:92,424,276...92,490,481 		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 ISO ClinVar Annotator: match by term: Bruck syndrome 1 ClinVar NCBI chr 6:4,505,618...4,541,543
Ensembl chr 6:4,504,814...4,541,544 		JBrowse link
G Fkbp10 FK506 binding protein 10 ISO ClinVar Annotator: match by term: Arthrogryposis-like disorder | ClinVar Annotator: match by term: Bruck syndrome 1
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9129737 PMID:9481655 PMID:9927692 PMID:20362275 PMID:20696291 More... NCBI chr11:100,306,520...100,315,666
Ensembl chr11:100,306,523...100,315,650 		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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9927692 PMID:12881513 PMID:15523624 PMID:22689593 PMID:25086671 More... NCBI chr 9:92,421,828...92,490,481
Ensembl chr 9:92,424,276...92,490,481 		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 chr 5:134,731,449...134,776,300
Ensembl chr 5:134,731,447...134,776,177 		JBrowse link
G Lemd3 LEM domain containing 3 no_association ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Dermatofibrosis lenticularis disseminata | ClinVar Annotator: match by term: Dermatofibrosis lenticularis disseminata, isolated | ClinVar Annotator: match by term: LEMD3-related condition | ClinVar Annotator: match by term: Melorheostosis with osteopoikilosis | ClinVar Annotator: match by term: OSTEOPOIKILOSIS WITH OR WITHOUT MELORHEOSTOSIS
DNA:nonsense mutation:cds:c.2203C>T(human)
DNA:transversion mutation:intron: c.1921+1G>T(human)
DNA:nonsense mutations:cds:c.2564G>A,c.1963C>T(human)		 OMIM
CTD
ClinVar
RGD		 PMID:9295073 PMID:12749062 PMID:15489854 PMID:16470551 PMID:17087626 More... RGD:11553844, RGD:11553843, RGD:11553842, RGD:11553840 NCBI chr10:120,759,316...120,815,491
Ensembl chr10:120,759,318...120,815,237 		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 ISO ClinVar Annotator: match by term: Infantile cortical hyperostosis ClinVar PMID:20971946 PMID:28492532 NCBI chr15:83,110,923...83,135,930
Ensembl chr15:83,110,923...83,135,975 		JBrowse link
G Col1a1 collagen, type I, alpha 1 ISO DNA:mutation:exon:3040C>T (human)
ClinVar Annotator: match by term: Caffey Disease | ClinVar Annotator: match by term: Infantile cortical hyperostosis
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:exon:c.3040C>T(p.R836C)(human)		 ClinVar
CTD
OMIM
RGD		 PMID:2037280 PMID:2542316 PMID:2794057 PMID:7691343 PMID:7695699 More... RGD:5688296, RGD:11667069 NCBI chr11:94,827,050...94,843,868
Ensembl chr11:94,827,050...94,843,868 		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 chr 3:131,112,634...131,197,204
Ensembl chr 3:131,112,634...131,197,172 		JBrowse link
G Smc1a structural maintenance of chromosomes 1A ISO ClinVar Annotator: match by term: CDL ClinVar PMID:18414213 NCBI chr  X:150,799,386...150,844,969
Ensembl chr  X:150,799,424...150,845,690 		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 chr11:110,956,990...110,967,651
Ensembl chr11:110,956,990...110,967,647 		JBrowse link
G LOC108021852 Sox9 promoter region ISO ClinVar Annotator: match by term: Acampomelic campomelic dysplasia | 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 ClinVar PMID:9002675 PMID:11076045 PMID:12783851 PMID:20301724 PMID:20513132 More... NCBI chr11:112,671,077...112,673,365 JBrowse link
G Sox9 SRY (sex determining region Y)-box 9 ISO
IAGP		 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
CTD Direct Evidence: marker/mechanism
OMIM:114290		 OMIM
ClinVar
CTD
MouseDO		 PMID:1809232 PMID:7485151 PMID:7990924 PMID:8001137 PMID:8894698 More... NCBI chr11:112,673,036...112,678,583
Ensembl chr11:112,673,050...112,678,586 		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 LOC108021852 Sox9 promoter region ISO ClinVar Annotator: match by term: Campomelic dysplasia with autosomal sex reversal ClinVar PMID:11076045 PMID:25741868 NCBI chr11:112,671,077...112,673,365 JBrowse link
G Sox9 SRY (sex determining region Y)-box 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 chr11:112,673,036...112,678,583
Ensembl chr11:112,673,050...112,678,586 		JBrowse link
Camurati-Engelmann disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lrp5 low density lipoprotein receptor-related protein 5 ISO ClinVar Annotator: match by term: Diaphyseal dysplasia ClinVar PMID:25741868 NCBI chr19:3,634,825...3,736,574
Ensembl chr19:3,634,828...3,736,564 		JBrowse link
G Mitf melanogenesis associated transcription factor IAGP OMIM:131300 | OMIM:606631 MouseDO NCBI chr 6:97,783,966...97,998,321
Ensembl chr 6:97,784,013...97,998,310 		JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO ClinVar Annotator: match by term: Diaphyseal dysplasia
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:10973241 PMID:11062463 PMID:11278244 PMID:11810278 PMID:12493741 More... NCBI chr 7:25,386,406...25,404,503
Ensembl chr 7:25,386,427...25,404,502 		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 chr 2:26,951,648...26,962,173
Ensembl chr 2:26,951,648...26,962,191 		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 chr 2:26,951,648...26,962,173
Ensembl chr 2:26,951,648...26,962,191 		JBrowse link
Carey-Fineman-Ziter Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mymx myomixer, myoblast fusion factor ISO ClinVar Annotator: match by term: Carey-Fineman-Ziter syndrome 2 OMIM
ClinVar		 PMID:35642635 NCBI chr17:45,911,887...45,913,122
Ensembl chr17:45,911,897...45,913,028 		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 chr 4:43,493,365...43,495,921
Ensembl chr 4:43,492,900...43,495,921 		JBrowse link
G Rmrp RNA component of mitochondrial RNAase P ISO ClinVar Annotator: match by term: Cartilage-Hair Hypoplasia | ClinVar Annotator: match by term: Cartilage-hair hypoplasia | ClinVar Annotator: match by term: Metaphyseal chondrodysplasia, McKusick type
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:8034306 PMID:8444246 PMID:9156319 PMID:10026268 PMID:11207361 More... NCBI chr 4:43,492,785...43,493,059
Ensembl chr 4:43,492,788...43,493,058
Ensembl chr 4:43,492,788...43,493,058 		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 isoleucine-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 chr 1:185,018,839...185,061,615
Ensembl chr 1:185,016,923...185,061,593 		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 chr 2:43,445,270...43,572,734
Ensembl chr 2:43,445,341...43,572,734 		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 chr14:118,349,323...118,370,177
Ensembl chr14:118,349,323...118,370,167 		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 chr 5:34,731,008...34,789,652
Ensembl chr 5:34,731,008...34,789,652 		JBrowse link
G Atp5me ATP synthase membrane subunit e ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 5:108,581,112...108,582,265
Ensembl chr 5:108,581,110...108,582,314 		JBrowse link
G Cplx1 complexin 1 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 5:108,666,420...108,697,893
Ensembl chr 5:108,666,420...108,697,890 		JBrowse link
G Ctbp1 C-terminal binding protein 1 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 5:33,405,067...33,432,348
Ensembl chr 5:33,405,067...33,432,338 		JBrowse link
G Dgkq diacylglycerol kinase, theta ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 5:108,794,910...108,808,696
Ensembl chr 5:108,794,559...108,817,538 		JBrowse link
G Dok7 docking protein 7 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 5:35,213,922...35,245,183
Ensembl chr 5:35,214,110...35,245,183 		JBrowse link
G Fam193a family with sequence homology 193, member A ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 5:34,527,295...34,643,800
Ensembl chr 5:34,527,277...34,643,800 		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 chr 5:33,757,695...33,787,007
Ensembl chr 5:33,757,691...33,786,979 		JBrowse link
G Fgfr3 fibroblast growth factor receptor 3 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 5:33,879,068...33,894,412
Ensembl chr 5:33,879,018...33,894,412 		JBrowse link
G Fgfrl1 fibroblast growth factor receptor-like 1 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 5:108,842,051...108,854,816
Ensembl chr 5:108,840,248...108,854,790 		JBrowse link
G Gak cyclin G associated kinase ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 5:108,716,973...108,777,643
Ensembl chr 5:108,717,277...108,777,621 		JBrowse link
G Grk4 G protein-coupled receptor kinase 4 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 5:34,817,641...34,912,649
Ensembl chr 5:34,817,723...34,912,649 		JBrowse link
G Haus3 HAUS augmin-like complex, subunit 3 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 5:34,311,240...34,326,768
Ensembl chr 5:34,311,224...34,326,871 		JBrowse link
G Hgfac hepatocyte growth factor activator ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 5:35,198,853...35,205,805
Ensembl chr 5:35,198,853...35,205,805 		JBrowse link
G Htt huntingtin ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 5:34,919,084...35,069,878
Ensembl chr 5:34,919,084...35,069,878 		JBrowse link
G Idua iduronidase, alpha-L ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 5:108,808,197...108,833,312
Ensembl chr 5:108,808,197...108,832,423 		JBrowse link
G Letm1 leucine zipper-EF-hand containing transmembrane protein 1 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 5:33,897,017...33,940,061
Ensembl chr 5:33,897,017...33,940,161 		JBrowse link
G Maea macrophage erythroblast attacher ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 5:33,492,916...33,530,638
Ensembl chr 5:33,492,853...33,530,640 		JBrowse link
G Mfsd10 major facilitator superfamily domain containing 10 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 5:34,790,988...34,794,558
Ensembl chr 5:34,790,986...34,794,556 		JBrowse link
G Msantd1 Myb/SANT-like DNA-binding domain containing 1 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 5:35,071,581...35,084,333
Ensembl chr 5:35,065,356...35,081,183 		JBrowse link
G Mxd4 Max dimerization protein 4 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 5:34,331,231...34,345,076
Ensembl chr 5:34,331,227...34,345,064 		JBrowse link
G Nat8l N-acetyltransferase 8-like ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 5:34,153,328...34,163,260
Ensembl chr 5:34,153,328...34,163,260 		JBrowse link
G Nelfa negative elongation factor complex member A, Whsc2 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 5:34,055,263...34,093,615
Ensembl chr 5:34,055,260...34,093,757 		JBrowse link
G Nicol1 NELL2 interacting cell ontogeny regulator 1 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 5:34,140,863...34,142,353
Ensembl chr 5:34,140,777...34,142,357 		JBrowse link
G Nkx1-1 NK1 homeobox 1 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 5:33,588,078...33,591,434
Ensembl chr 5:33,588,078...33,591,320 		JBrowse link
G Nop14 NOP14 nucleolar protein ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 5:34,795,880...34,817,566
Ensembl chr 5:34,795,880...34,817,492 		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 chr 5:33,974,286...34,055,310
Ensembl chr 5:33,978,069...34,055,319 		JBrowse link
G Pcgf3 polycomb group ring finger 3 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 5:108,609,082...108,654,842
Ensembl chr 5:108,609,098...108,654,842 		JBrowse link
G Pde6b phosphodiesterase 6B, cGMP, rod receptor, beta polypeptide ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 5:108,536,239...108,579,609
Ensembl chr 5:108,536,257...108,580,263 		JBrowse link
G Pigg phosphatidylinositol glycan anchor biosynthesis, class G ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 5:108,460,679...108,497,225
Ensembl chr 5:108,460,475...108,497,221 		JBrowse link
G Poln DNA polymerase N ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 5:34,164,523...34,326,870
Ensembl chr 5:34,164,523...34,326,792 		JBrowse link
G Rgs12 regulator of G-protein signaling 12 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 5:35,106,273...35,196,988
Ensembl chr 5:35,106,789...35,196,988 		JBrowse link
G Rit1 Ras-like without CAAX 1 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 3:88,624,154...88,638,354
Ensembl chr 3:88,624,145...88,638,356 		JBrowse link
G Rnf212 ring finger protein 212 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 5:108,875,971...108,922,933
Ensembl chr 5:108,877,156...108,922,848 		JBrowse link
G Rnf4 ring finger protein 4 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 5:34,493,594...34,510,789
Ensembl chr 5:34,493,633...34,512,973 		JBrowse link
G Sh3bp2 SH3-domain binding protein 2 ISO
IAGP		 ClinVar Annotator: match by term: Cherubism | ClinVar Annotator: match by term: Fibrous dysplasia of jaw
CTD Direct Evidence: marker/mechanism
OMIM:118400		 ClinVar
CTD
MouseDO
OMIM
RGD		 PMID:9536098 PMID:11381256 PMID:12900899 PMID:14577811 PMID:15507112 More... RGD:1599339 NCBI chr 5:34,683,128...34,720,983
Ensembl chr 5:34,683,182...34,720,985 		JBrowse link
G Slbp stem-loop binding protein ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 5:33,797,399...33,809,918
Ensembl chr 5:33,792,296...33,809,918 		JBrowse link
G Slc26a1 solute carrier family 26 (sulfate transporter), member 1 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 5:108,817,744...108,826,246
Ensembl chr 5:108,817,744...108,823,435 		JBrowse link
G Slc49a3 solute carrier family 49 member 3 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 5:108,588,920...108,598,631
Ensembl chr 5:108,588,920...108,596,966 		JBrowse link
G Spon2 spondin 2, extracellular matrix protein ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 5:33,370,862...33,375,596
Ensembl chr 5:33,355,528...33,375,799 		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 chr 5:33,814,808...33,836,331
Ensembl chr 5:33,815,472...33,836,339 		JBrowse link
G Tmem129 transmembrane protein 129 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 5:33,810,560...33,815,321
Ensembl chr 5:33,810,560...33,815,760 		JBrowse link
G Tmem175 transmembrane protein 175 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 5:108,777,649...108,795,636
Ensembl chr 5:108,777,636...108,796,648 		JBrowse link
G Tnip2 TNFAIP3 interacting protein 2 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 5:34,653,440...34,671,323
Ensembl chr 5:34,653,431...34,671,335 		JBrowse link
G Uvssa UV stimulated scaffold protein A ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 5:33,535,868...33,578,243
Ensembl chr 5:33,535,893...33,577,098 		JBrowse link
G Zfyve28 zinc finger, FYVE domain containing 28 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 5:34,352,237...34,445,796
Ensembl chr 5:34,352,237...34,445,793 		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 chr 7:24,941,985...24,950,522
Ensembl chr 7:24,941,986...24,950,186 		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 polypeptide 3 ISO ClinVar Annotator: match by term: Chondrodysplasia Blomstrand type ClinVar NCBI chr 9:110,592,746...110,598,870
Ensembl chr 9:110,570,929...110,598,866 		JBrowse link
G Pth1r parathyroid hormone 1 receptor ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Blomstrand lethal osteochondrodysplasia | ClinVar Annotator: match by term: Chondrodysplasia Blomstrand type		 OMIM
CTD
ClinVar		 PMID:3975110 PMID:9268097 PMID:9536098 PMID:9649554 PMID:9745456 More... NCBI chr 9:110,5