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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 IDA RGD PMID:16447218 RGD:8699518 NCBI chr14:53,949,736...53,956,891
Ensembl chr14:53,949,736...53,958,761 		JBrowse link
G COL11A2 collagen type XI alpha 2 chain EXP CTD Direct Evidence: marker/mechanism CTD PMID:11668593 NCBI chr 6:33,162,694...33,193,519
Ensembl chr 6:33,162,681...33,192,499 		JBrowse link
G COL2A1 collagen type II alpha 1 chain EXP CTD Direct Evidence: marker/mechanism CTD PMID:27028940 NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554 		JBrowse link
G EDN1 endothelin 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:20707411 NCBI chr 6:12,230,516...12,297,194
Ensembl chr 6:12,290,361...12,297,194 		JBrowse link
G FGF14 fibroblast growth factor 14 EXP CTD Direct Evidence: marker/mechanism CTD PMID:11241832 NCBI chr13:101,710,804...102,402,443
Ensembl chr13:101,710,804...102,402,457 		JBrowse link
G GATA2 GATA binding protein 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:20707411 NCBI chr 3:128,479,422...128,493,201
Ensembl chr 3:128,479,427...128,493,201 		JBrowse link
G MMP3 matrix metallopeptidase 3 ISO mRNA:increased expression:articular cartilage RGD PMID:20153826 RGD:2325860 NCBI chr11:102,835,801...102,843,609
Ensembl chr11:102,835,801...102,843,609 		JBrowse link
G MT2A metallothionein 2A ISO Auricular Chondritis; mRNA:increased expression:ear (mouse) RGD PMID:17606507 RGD:6483833 NCBI chr16:56,608,584...56,609,497
Ensembl chr16:56,608,584...56,609,497 		JBrowse link
G NPPC natriuretic peptide C EXP CTD Direct Evidence: marker/mechanism CTD PMID:17676597 NCBI chr 2:231,921,809...231,926,396
Ensembl chr 2:231,921,809...231,926,396 		JBrowse link
acheiropody term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LMBR1 limb development membrane protein 1 IAGP
ISS
EXP		 ClinVar Annotator: match by term: Acheiropodia
OMIM:200500
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM		 PMID:11090342 PMID:33863876 NCBI chr 7:156,669,012...156,893,183
Ensembl chr 7:156,668,946...156,893,216 		JBrowse link
achondrogenesis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLC26A2 solute carrier family 26 member 2 IAGP ClinVar Annotator: match by term: Achondrogenesis ClinVar NCBI chr 5:149,960,758...149,987,400
Ensembl chr 5:149,960,758...149,993,455 		JBrowse link
G TRIP11 thyroid hormone receptor interactor 11 IAGP ClinVar Annotator: match by term: Achondrogenesis ClinVar NCBI chr14:91,965,991...92,040,059
Ensembl chr14:91,965,991...92,040,896 		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 IAGP ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr14:93,934,166...93,976,570
Ensembl chr14:93,934,166...93,976,739 		JBrowse link
G ATXN3 ataxin 3 IAGP ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr14:92,044,775...92,106,582
Ensembl chr14:92,044,496...92,106,621 		JBrowse link
G BTBD7 BTB domain containing 7 IAGP ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr14:93,237,550...93,333,036
Ensembl chr14:93,237,550...93,333,092 		JBrowse link
G CALM1 calmodulin 1 IAGP ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr14:90,396,502...90,408,268
Ensembl chr14:90,396,502...90,408,268 		JBrowse link
G CATSPERB cation channel sperm associated auxiliary subunit beta IAGP ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr14:91,580,698...91,732,086
Ensembl chr14:91,580,696...91,780,707 		JBrowse link
G CCDC88C coiled-coil domain containing 88C IAGP ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr14:91,271,323...91,417,820
Ensembl chr14:91,271,323...91,417,844 		JBrowse link
G CHGA chromogranin A IAGP ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr14:92,922,664...92,935,285
Ensembl chr14:92,923,150...92,935,285 		JBrowse link
G COX8C cytochrome c oxidase subunit 8C IAGP ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr14:93,347,182...93,348,356
Ensembl chr14:93,347,182...93,348,356 		JBrowse link
G CPSF2 cleavage and polyadenylation specific factor 2 IAGP ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr14:92,121,969...92,172,145
Ensembl chr14:92,121,969...92,172,145 		JBrowse link
G DDX24 DEAD-box helicase 24 IAGP ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr14:94,048,287...94,081,202
Ensembl chr14:94,048,287...94,081,202 		JBrowse link
G DGLUCY D-glutamate cyclase IAGP ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr14:91,060,333...91,225,632
Ensembl chr14:91,060,333...91,225,632 		JBrowse link
G FAM181A family with sequence similarity 181 member A IAGP ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr14:93,918,894...93,929,608
Ensembl chr14:93,918,894...93,929,608 		JBrowse link
G FBLN5 fibulin 5 IAGP ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr14:91,869,411...91,947,694
Ensembl chr14:91,869,411...91,947,987 		JBrowse link
G GOLGA5 golgin A5 IAGP ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr14:92,794,305...92,839,947
Ensembl chr14:92,794,305...92,839,947 		JBrowse link
G GON7 GON7 subunit of KEOPS complex IAGP ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr14:93,202,894...93,207,065
Ensembl chr14:93,202,894...93,207,065 		JBrowse link
G GPR68 G protein-coupled receptor 68 IAGP ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr14:91,232,532...91,270,790
Ensembl chr14:91,232,532...91,253,925 		JBrowse link
G IFI27 interferon alpha inducible protein 27 IAGP ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr14:94,105,894...94,116,690
Ensembl chr14:94,104,836...94,116,695 		JBrowse link
G IFI27L1 interferon alpha inducible protein 27 like 1 IAGP ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr14:94,081,310...94,102,709
Ensembl chr14:94,081,301...94,103,846 		JBrowse link
G IFI27L2 interferon alpha inducible protein 27 like 2 IAGP ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr14:94,127,781...94,129,604
Ensembl chr14:94,127,779...94,130,253 		JBrowse link
G ITPK1 inositol-tetrakisphosphate 1-kinase IAGP ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr14:92,936,914...93,115,925
Ensembl chr14:92,936,914...93,116,320 		JBrowse link
G KCNK13 potassium two pore domain channel subfamily K member 13 IAGP ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr14:90,061,994...90,185,853
Ensembl chr14:90,061,994...90,185,853 		JBrowse link
G LGMN legumain IAGP ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr14:92,703,809...92,748,627
Ensembl chr14:92,703,807...92,748,679 		JBrowse link
G LYSET lysosomal enzyme trafficking factor IAGP ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr14:93,184,974...93,188,463
Ensembl chr14:93,184,951...93,188,463 		JBrowse link
G MOAP1 modulator of apoptosis 1 IAGP ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr14:93,182,199...93,184,897
Ensembl chr14:93,182,199...93,184,923 		JBrowse link
G NDUFB1 NADH:ubiquinone oxidoreductase subunit B1 IAGP ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr14:92,116,123...92,121,706
Ensembl chr14:92,116,122...92,121,917 		JBrowse link
G NRDE2 NRDE-2, necessary for RNA interference, domain containing IAGP ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr14:90,267,860...90,331,941
Ensembl chr14:90,267,860...90,331,969 		JBrowse link
G OTUB2 OTU deubiquitinase, ubiquitin aldehyde binding 2 IAGP ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr14:94,026,340...94,048,930
Ensembl chr14:94,026,340...94,048,930 		JBrowse link
G PPP4R3A protein phosphatase 4 regulatory subunit 3A IAGP ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr14:91,457,508...91,510,554
Ensembl chr14:91,457,508...91,510,554 		JBrowse link
G PPP4R4 protein phosphatase 4 regulatory subunit 4 IAGP ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr14:94,174,322...94,279,734
Ensembl chr14:94,146,128...94,279,734 		JBrowse link
G PRIMA1 proline rich membrane anchor 1 IAGP ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr14:93,718,298...93,788,994
Ensembl chr14:93,718,298...93,788,485 		JBrowse link
G PSMC1 proteasome 26S subunit, ATPase 1 IAGP ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr14:90,256,553...90,275,429
Ensembl chr14:90,256,527...90,275,429 		JBrowse link
G RIN3 Ras and Rab interactor 3 IAGP ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr14:92,513,781...92,688,994
Ensembl chr14:92,513,781...92,688,994 		JBrowse link
G RPS6KA5 ribosomal protein S6 kinase A5 IAGP ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr14:90,847,861...91,060,641
Ensembl chr14:90,847,861...91,060,641 		JBrowse link
G SERPINA1 serpin family A member 1 IAGP ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr14:94,376,747...94,390,635
Ensembl chr14:94,376,747...94,390,693 		JBrowse link
G SERPINA10 serpin family A member 10 IAGP ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr14:94,280,460...94,293,268
Ensembl chr14:94,280,460...94,293,268 		JBrowse link
G SERPINA2 serpin family A member 2 (gene/pseudogene) IAGP ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr14:94,364,318...94,366,702
Ensembl chr14:94,364,316...94,366,698 		JBrowse link
G SERPINA6 serpin family A member 6 IAGP ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr14:94,304,248...94,323,336
Ensembl chr14:94,304,248...94,323,389 		JBrowse link
G SLC24A4 solute carrier family 24 member 4 IAGP ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr14:92,322,581...92,501,481
Ensembl chr14:92,322,581...92,501,481 		JBrowse link
G TC2N tandem C2 domains, nuclear IAGP ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr14:91,779,746...91,867,536
Ensembl chr14:91,779,746...91,867,536 		JBrowse link
G TDP1 tyrosyl-DNA phosphodiesterase 1 IAGP ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr14:89,954,968...90,044,764
Ensembl chr14:89,954,939...90,044,764 		JBrowse link
G TRIP11 thyroid hormone receptor interactor 11 IAGP
ISS
EXP		 ClinVar Annotator: match by term: Achondrogenesis, type IA
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
ClinVar Annotator: match by term: Achondrogenesis Houston-Harris type | ClinVar Annotator: match by term: Achondrogenesis, type IA
OMIM:200600
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM		 PMID:200899 PMID:2008997 PMID:9536098 PMID:16199547 PMID:17576681 More... NCBI chr14:91,965,991...92,040,059
Ensembl chr14:91,965,991...92,040,896 		JBrowse link
G TTC7B tetratricopeptide repeat domain 7B IAGP ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr14:90,524,564...90,816,430
Ensembl chr14:90,524,564...90,816,479 		JBrowse link
G UBR7 ubiquitin protein ligase E3 component n-recognin 7 IAGP ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr14:93,207,256...93,229,215
Ensembl chr14:93,207,241...93,229,215 		JBrowse link
G UNC79 unc-79 homolog, NALCN channel complex subunit IAGP ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr14:93,333,182...93,707,876
Ensembl chr14:93,333,219...93,707,876 		JBrowse link
achondrogenesis type IB term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC129994976 ATAC-STARR-seq lymphoblastoid silent region 16504 IAGP ClinVar Annotator: match by term: Achondrogenesis Fraccaro type ClinVar NCBI chr 5:149,960,694...149,960,813 JBrowse link
G SLC26A2 solute carrier family 26 member 2 IAGP
EXP		 DNA:mutations:cds:
ClinVar Annotator: match by term: Achondrogenesis Fraccaro type | ClinVar Annotator: match by term: Achondrogenesis, type IB
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM
RGD		 PMID:4644462 PMID:7695699 PMID:7923357 PMID:8218237 PMID:8528239 More... RGD:11068488 NCBI chr 5:149,960,758...149,987,400
Ensembl chr 5:149,960,758...149,993,455 		JBrowse link
achondrogenesis type II term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL2A1 collagen type II alpha 1 chain IAGP
ISS
EXP		 ClinVar Annotator: match by term: Achondrogenesis type II
ClinVar Annotator: match by term: Achondrogenesis type II | ClinVar Annotator: match by term: Chondrogenesis imperfecta
OMIM:200610
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM		 PMID:7695699 PMID:7741714 PMID:7752132 PMID:7757081 PMID:7829510 More... NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554 		JBrowse link
achondroplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACAN aggrecan ISS OMIM:100800 MouseDO NCBI chr15:88,803,436...88,875,353
Ensembl chr15:88,803,436...88,875,353 		JBrowse link
G FBN1 fibrillin 1 IAGP ClinVar Annotator: match by term: Achondroplasia ClinVar PMID:16571647 PMID:16905551 PMID:17701892 PMID:19349279 PMID:25741868 More... NCBI chr15:48,408,313...48,645,709
Ensembl chr15:48,408,313...48,645,721 		JBrowse link
G FGFR3 fibroblast growth factor receptor 3 severity IAGP
ISS
EXP		 DNA:missense mutation:cds:p.G380R (human)
ClinVar Annotator: match by term: Skeleton skin brain syndrome
ClinVar Annotator: match by term: Achondroplasia | ClinVar Annotator: match by term: Skeleton skin brain syndrome
OMIM:100800
CTD Direct Evidence: marker/mechanism
DNA:mutation:cds:p.K650M(human)		 ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:1908846 PMID:4697848 PMID:7647778 PMID:7649548 PMID:7670477 More... RGD:1598937, RGD:11568054 NCBI chr 4:1,793,293...1,808,867
Ensembl chr 4:1,793,293...1,808,872 		JBrowse link
G LOC113939944 Sharpr-MPRA regulatory region 9539 IAGP ClinVar Annotator: match by term: Achondroplasia ClinVar PMID:16571647 PMID:16905551 PMID:17701892 PMID:19349279 PMID:25741868 More... NCBI chr15:48,520,532...48,520,826 JBrowse link
G NPPC natriuretic peptide C ISS OMIM:100800 MouseDO NCBI chr 2:231,921,809...231,926,396
Ensembl chr 2:231,921,809...231,926,396 		JBrowse link
G NPR2 natriuretic peptide receptor 2 ISO
ISS		 DNA:missense mutation:cds:p.L885R (mouse)
OMIM:100800		 MouseDO
RGD		 PMID:15722353 RGD:1580771 NCBI chr 9:35,791,591...35,809,731
Ensembl chr 9:35,791,003...35,809,732 		JBrowse link
G PTHLH parathyroid hormone like hormone ISS OMIM:100800 MouseDO NCBI chr12:27,958,084...27,972,733
Ensembl chr12:27,958,084...27,972,733 		JBrowse link
G SPRED2 sprouty related EVH1 domain containing 2 ISS OMIM:100800 MouseDO NCBI chr 2:65,307,175...65,432,599
Ensembl chr 2:65,310,851...65,432,637 		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 IAGP ClinVar Annotator: match by term: Achondroplastic dwarfism ClinVar PMID:1908846 PMID:4697848 PMID:7647778 PMID:7649548 PMID:7670477 More... NCBI chr 4:1,793,293...1,808,867
Ensembl chr 4:1,793,293...1,808,872 		JBrowse link
acrocapitofemoral dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IHH Indian hedgehog signaling molecule IAGP
EXP		 DNA:point mutations:CDS:p.P46L (137C>T), p.V190A (T569T>C) (human)
ClinVar Annotator: match by term: Acrocapitofemoral dysplasia
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM
RGD		 PMID:12624140 PMID:12632327 PMID:25741868 PMID:28492532 PMID:34530144 More... RGD:1600033 NCBI chr 2:219,054,424...219,060,921
Ensembl chr 2:219,054,424...219,060,921 		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 IAGP ClinVar Annotator: match by term: Acrodysostosis ClinVar PMID:25741868 PMID:28492532 NCBI chr17:68,535,116...68,601,367
Ensembl chr17:68,535,113...68,601,367 		JBrowse link
G PDE4D phosphodiesterase 4D EXP
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Acrodysostosis		 CTD
ClinVar		 PMID:25741868 PMID:28492532 NCBI chr 5:58,969,038...60,522,128
Ensembl chr 5:58,969,038...60,522,120 		JBrowse link
G PRKAR1A protein kinase cAMP-dependent type I regulatory subunit alpha EXP
IAGP
ISS		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Acrodysostosis
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 chr17:68,413,623...68,551,316
Ensembl chr17:68,511,780...68,551,319 		JBrowse link
Acrodysostosis 1, with or without Hormone Resistance term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PRKAR1A protein kinase cAMP-dependent type I regulatory subunit alpha IAGP ClinVar Annotator: match by term: Acrodysostosis 1 with or without hormone resistance ClinVar
OMIM		 PMID:11115848 PMID:11200992 PMID:15371594 PMID:18241045 PMID:19293268 More... NCBI chr17:68,413,623...68,551,316
Ensembl chr17:68,511,780...68,551,319 		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 IAGP ClinVar Annotator: match by term: Acrodysostosis 2 with or without hormone resistance ClinVar PMID:21681106 PMID:24203977 NCBI chr 5:60,596,912...60,700,166
Ensembl chr 5:60,596,912...60,700,190 		JBrowse link
G LOC123493321 Sharpr-MPRA regulatory region 9229 IAGP ClinVar Annotator: match by term: Acrodysostosis 2 with or without hormone resistance ClinVar PMID:21681106 PMID:24203977 NCBI chr 5:60,528,142...60,528,436 JBrowse link
G LOC123493322 Sharpr-MPRA regulatory region 1909 IAGP ClinVar Annotator: match by term: Acrodysostosis 2 with or without hormone resistance ClinVar PMID:21681106 PMID:24203977 NCBI chr 5:60,652,102...60,652,396 JBrowse link
G LOC129993939 ATAC-STARR-seq lymphoblastoid silent region 16037 IAGP ClinVar Annotator: match by term: Acrodysostosis 2 with or without hormone resistance ClinVar PMID:28492532 NCBI chr 5:59,180,618...59,180,667 JBrowse link
G LOC129993942 ATAC-STARR-seq lymphoblastoid active region 22586 IAGP ClinVar Annotator: match by term: Acrodysostosis 2 with or without hormone resistance ClinVar PMID:21681106 PMID:24203977 NCBI chr 5:60,522,422...60,522,491 JBrowse link
G LOC129993943 ATAC-STARR-seq lymphoblastoid active region 22587 IAGP ClinVar Annotator: match by term: Acrodysostosis 2 with or without hormone resistance ClinVar PMID:21681106 PMID:24203977 NCBI chr 5:60,522,642...60,522,901 JBrowse link
G LOC129993944 ATAC-STARR-seq lymphoblastoid silent region 16038 IAGP ClinVar Annotator: match by term: Acrodysostosis 2 with or without hormone resistance ClinVar PMID:21681106 PMID:24203977 NCBI chr 5:60,688,334...60,688,463 JBrowse link
G PART1 prostate androgen-regulated transcript 1 IAGP ClinVar Annotator: match by term: Acrodysostosis 2 with or without hormone resistance ClinVar PMID:21681106 PMID:24203977 NCBI chr 5:60,487,713...60,547,657
Ensembl chr 5:60,487,713...60,548,813 		JBrowse link
G PDE4D phosphodiesterase 4D IAGP ClinVar Annotator: match by term: Acrodysostosis 2 with or without hormone resistance
ClinVar Annotator: match by term: Acrodysostosis 2 with or without hormone resistance | ClinVar Annotator: match by term: PDE4D-related condition		 ClinVar
OMIM		 PMID:11200992 PMID:12121997 PMID:15025561 PMID:21681106 PMID:22464250 More... NCBI chr 5:58,969,038...60,522,128
Ensembl chr 5:58,969,038...60,522,120 		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 IAGP ClinVar Annotator: match by term: Acromesomelic dysplasia
ClinVar Annotator: match by term: Acromesomelic dwarfism		 ClinVar PMID:28492532 NCBI chr20:35,433,347...35,454,749
Ensembl chr20:35,433,347...35,454,746 		JBrowse link
G GDF5-AS1 GDF5 antisense RNA 1 IAGP ClinVar Annotator: match by term: Acromesomelic dwarfism ClinVar PMID:28492532 NCBI chr20:35,433,029...35,434,651
Ensembl chr20:35,433,029...35,435,450 		JBrowse link
G LOC109461476 GDF5 promoter region IAGP ClinVar Annotator: match by term: Acromesomelic dysplasia ClinVar NCBI chr20:35,437,929...35,438,683 JBrowse link
G NPR2 natriuretic peptide receptor 2 IAGP ClinVar Annotator: match by term: Acromesomelic dysplasia ClinVar PMID:28492532 NCBI chr 9:35,791,591...35,809,731
Ensembl chr 9:35,791,003...35,809,732 		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 IAGP
ISS
EXP		 DNA:insertion mutation:cds:1114insGAGT(human)
ClinVar Annotator: match by term: Grebe syndrome
OMIM:200700
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:cds:c.1285T>C (p.C429R)(human)
DNA:missense mutation:cds:c.527T>C(p.L176P)(human)		 ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:9288098 PMID:12124730 PMID:12900894 PMID:17384641 PMID:25741868 More... RGD:12437075, RGD:12487346, RGD:12437083 NCBI chr20:35,433,347...35,454,749
Ensembl chr20:35,433,347...35,454,746 		JBrowse link
G GDF5-AS1 GDF5 antisense RNA 1 IAGP ClinVar Annotator: match by term: Grebe syndrome ClinVar PMID:9288098 PMID:12900894 PMID:25741868 PMID:28492532 NCBI chr20:35,433,029...35,434,651
Ensembl chr20:35,433,029...35,435,450 		JBrowse link
G LOC109461476 GDF5 promoter region IAGP ClinVar Annotator: match by term: Grebe syndrome ClinVar PMID:17384641 PMID:25741868 PMID:28492532 NCBI chr20:35,437,929...35,438,683 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 IAGP ClinVar Annotator: match by term: Acromesomelic dysplasia 2C, Hunter-Thompson type ClinVar PMID:29322508 NCBI chr 4:94,757,955...95,158,450
Ensembl chr 4:94,757,955...95,158,448 		JBrowse link
G GDF5 growth differentiation factor 5 IAGP
ISS		 ClinVar Annotator: match by term: Acromesomelic dysplasia 2C, Hunter-Thompson type
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 chr20:35,433,347...35,454,749
Ensembl chr20:35,433,347...35,454,746 		JBrowse link
G GDF5-AS1 GDF5 antisense RNA 1 IAGP ClinVar Annotator: match by term: Acromesomelic dysplasia 2C, Hunter-Thompson type
ClinVar Annotator: match by term: Acromesomelic dysplasia 2C, Hunter-Thompson type | ClinVar Annotator: match by term: Acromesomelic dysplasia, Hunter-Thompson type		 ClinVar PMID:25741868 PMID:28492532 NCBI chr20:35,433,029...35,434,651
Ensembl chr20:35,433,029...35,435,450 		JBrowse link
G LOC109461476 GDF5 promoter region IAGP ClinVar Annotator: match by term: Acromesomelic dysplasia 2C, Hunter-Thompson type ClinVar PMID:17384641 PMID:25741868 PMID:28492532 NCBI chr20:35,437,929...35,438,683 JBrowse link
acromesomelic dysplasia, Maroteaux type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANKRD18B ankyrin repeat domain 18B IAGP ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 9:33,524,251...33,575,442
Ensembl chr 9:33,524,251...33,608,848 		JBrowse link
G APTX aprataxin IAGP ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 9:32,972,616...33,025,120
Ensembl chr 9:32,886,601...33,025,130 		JBrowse link
G AQP3 aquaporin 3 (Gill blood group) IAGP ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 9:33,441,160...33,447,593
Ensembl chr 9:33,441,156...33,447,596 		JBrowse link
G AQP7 aquaporin 7 IAGP ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 9:33,383,191...33,402,568
Ensembl chr 9:33,383,179...33,402,682 		JBrowse link
G ARHGEF39 Rho guanine nucleotide exchange factor 39 IAGP ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 9:35,659,343...35,665,195
Ensembl chr 9:35,658,875...35,675,866 		JBrowse link
G ARID3C AT-rich interaction domain 3C IAGP ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 9:34,621,049...34,633,011
Ensembl chr 9:34,621,049...34,629,066 		JBrowse link
G ATOSB atos homolog B IAGP ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 9:35,104,117...35,116,380
Ensembl chr 9:35,104,112...35,116,341 		JBrowse link
G B4GALT1 beta-1,4-galactosyltransferase 1 IAGP ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 9:33,104,077...33,185,089
Ensembl chr 9:33,100,493...33,167,336 		JBrowse link
G BAG1 BAG cochaperone 1 IAGP ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 9:33,252,471...33,264,708
Ensembl chr 9:33,247,820...33,264,720 		JBrowse link
G CA9 carbonic anhydrase 9 IAGP ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 9:35,673,928...35,681,159
Ensembl chr 9:35,673,928...35,681,159 		JBrowse link
G CCDC107 coiled-coil domain containing 107 IAGP ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 9:35,658,292...35,661,511
Ensembl chr 9:35,658,290...35,661,511 		JBrowse link
G CCIN calicin IAGP ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 9:36,169,388...36,171,334
Ensembl chr 9:36,169,388...36,171,334 		JBrowse link
G CCL19 C-C motif chemokine ligand 19 IAGP ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 9:34,689,570...34,691,276
Ensembl chr 9:34,689,570...34,691,276 		JBrowse link
G CCL21 C-C motif chemokine ligand 21 IAGP ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 9:34,709,005...34,710,136
Ensembl chr 9:34,709,005...34,710,136 		JBrowse link
G CCL27 C-C motif chemokine ligand 27 IAGP ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 9:34,661,890...34,662,657
Ensembl chr 9:34,661,880...34,664,048 		JBrowse link
G CD72 CD72 molecule IAGP ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 9:35,609,982...35,646,857
Ensembl chr 9:35,609,982...35,646,810 		JBrowse link
G CHMP5 charged multivesicular body protein 5 IAGP ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 9:33,265,049...33,282,070
Ensembl chr 9:33,264,879...33,282,070 		JBrowse link
G CIMIP2B ciliary microtubule inner protein 2B IAGP ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 9:35,561,831...35,563,878
Ensembl chr 9:35,561,831...35,563,899 		JBrowse link
G CLTA clathrin light chain A IAGP ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 9:36,190,874...36,212,059
Ensembl chr 9:36,190,856...36,304,781 		JBrowse link
G CNTFR ciliary neurotrophic factor receptor IAGP ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 9:34,551,433...34,590,852
Ensembl chr 9:34,551,432...34,590,140 		JBrowse link
G CREB3 cAMP responsive element binding protein 3 IAGP ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 9:35,732,666...35,736,999
Ensembl chr 9:35,732,598...35,736,999 		JBrowse link
G DCAF12 DDB1 and CUL4 associated factor 12 IAGP ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 9:34,086,387...34,126,698
Ensembl chr 9:34,086,387...34,127,399 		JBrowse link
G DCTN3 dynactin subunit 3 IAGP ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 9:34,613,546...34,620,495
Ensembl chr 9:34,613,545...34,620,523 		JBrowse link
G DNAI1 dynein axonemal intermediate chain 1 IAGP ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 9:34,458,805...34,520,984
Ensembl chr 9:34,457,414...34,520,988 		JBrowse link
G DNAJA1 DnaJ heat shock protein family (Hsp40) member A1 IAGP ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 9:33,025,273...33,039,907
Ensembl chr 9:33,025,273...33,039,907 		JBrowse link
G DNAJB5 DnaJ heat shock protein family (Hsp40) member B5 IAGP ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 9:34,989,745...34,998,900
Ensembl chr 9:34,989,641...34,998,900 		JBrowse link
G ENHO energy homeostasis associated IAGP ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 9:34,521,043...34,522,990
Ensembl chr 9:34,521,043...34,522,990 		JBrowse link
G EXOSC3 exosome component 3 IAGP ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 9:37,779,714...37,785,092
Ensembl chr 9:37,759,234...37,832,117 		JBrowse link
G FAM219A family with sequence similarity 219 member A IAGP ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 9:34,398,184...34,458,570
Ensembl chr 9:34,398,184...34,458,570 		JBrowse link
G FAM221B family with sequence similarity 221 member B IAGP ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 9:35,816,391...35,828,732
Ensembl chr 9:35,816,391...35,828,747 		JBrowse link
G FANCG FA complementation group G IAGP ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 9:35,073,839...35,079,942
Ensembl chr 9:35,073,835...35,080,004 		JBrowse link
G FBXO10 F-box protein 10 IAGP ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 9:37,510,892...37,576,380
Ensembl chr 9:37,510,892...37,576,380 		JBrowse link
G FRMPD1 FERM and PDZ domain containing 1 IAGP ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 9:37,603,229...37,746,904
Ensembl chr 9:37,650,954...37,746,904 		JBrowse link
G GALT galactose-1-phosphate uridylyltransferase IAGP ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 9:34,646,675...34,651,035
Ensembl chr 9:34,638,133...34,651,035 		JBrowse link
G GBA2 glucosylceramidase beta 2 IAGP ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 9:35,736,866...35,749,228
Ensembl chr 9:35,736,866...35,749,228 		JBrowse link
G GLIPR2 GLI pathogenesis related 2 IAGP ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 9:36,136,536...36,163,913
Ensembl chr 9:36,136,536...36,163,913 		JBrowse link
G GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase IAGP ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 9:36,214,441...36,276,978
Ensembl chr 9:36,214,441...36,277,042 		JBrowse link
G GRHPR glyoxylate and hydroxypyruvate reductase IAGP ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 9:37,422,435...37,439,494
Ensembl chr 9:37,422,666...37,436,990 		JBrowse link
G HINT2 histidine triad nucleotide binding protein 2 IAGP ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 9:35,812,960...35,815,479
Ensembl chr 9:35,812,960...35,815,354 		JBrowse link
G HRCT1 histidine rich carboxyl terminus 1 IAGP ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 9:35,906,202...35,907,136
Ensembl chr 9:35,906,202...35,907,136 		JBrowse link
G IL11RA interleukin 11 receptor subunit alpha IAGP ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 9:34,652,185...34,661,902
Ensembl chr 9:34,652,162...34,661,902 		JBrowse link
G KIF24 kinesin family member 24 IAGP ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 9:34,252,380...34,333,671
Ensembl chr 9:34,252,380...34,329,268 		JBrowse link
G MELK maternal embryonic leucine zipper kinase IAGP ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 9:36,572,895...36,677,682
Ensembl chr 9:36,572,862...36,677,683 		JBrowse link
G MSMP microseminoprotein, prostate associated IAGP ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 9:35,752,990...35,754,276
Ensembl chr 9:35,752,990...35,756,613 		JBrowse link
G MYORG myogenesis regulating glycosidase IAGP ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 9:34,366,666...34,376,898
Ensembl chr 9:34,366,666...34,376,898 		JBrowse link
G NDUFB6 NADH:ubiquinone oxidoreductase subunit B6 IAGP ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 9:32,553,001...32,573,159
Ensembl chr 9:32,553,001...32,573,184 		JBrowse link
G NFX1 nuclear transcription factor, X-box binding 1 IAGP ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 9:33,290,516...33,371,157
Ensembl chr 9:33,290,512...33,371,157 		JBrowse link
G NOL6 nucleolar protein 6 IAGP ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 9:33,461,353...33,473,924
Ensembl chr 9:33,461,353...33,473,930 		JBrowse link
G NPR2 natriuretic peptide receptor 2 IAGP
ISS
EXP		 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 Annotator: match by term: ST. HELENA DYSPLASIA
ClinVar Annotator: match by term: Acromesomelic dwarfism Maroteux type | ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type
OMIM:602875
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:9536098 PMID:15146390 PMID:15572448 PMID:16199547 PMID:16384845 More... NCBI chr 9:35,791,591...35,809,731
Ensembl chr 9:35,791,003...35,809,732 		JBrowse link
G NUDT2 nudix hydrolase 2 IAGP ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 9:34,329,569...34,343,699
Ensembl chr 9:34,329,506...34,343,713 		JBrowse link
G OR13J1 olfactory receptor family 13 subfamily J member 1 IAGP ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 9:35,869,463...35,870,401
Ensembl chr 9:35,869,463...35,870,401 		JBrowse link
G OR2S2 olfactory receptor family 2 subfamily S member 2 IAGP ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 9:35,957,108...35,958,154
Ensembl chr 9:35,957,108...35,958,154 		JBrowse link
G PAX5 paired box 5 IAGP ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 9:36,833,269...37,034,268
Ensembl chr 9:36,833,269...37,034,268 		JBrowse link
G PHF24 PHD finger protein 24 IAGP ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 9:34,665,607...34,982,544
Ensembl chr 9:34,957,608...34,982,544 		JBrowse link
G PIGO phosphatidylinositol glycan anchor biosynthesis class O IAGP ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 9:35,088,688...35,096,591
Ensembl chr 9:35,085,493...35,096,619 		JBrowse link
G POLR1E RNA polymerase I subunit E IAGP ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 9:37,485,948...37,503,697
Ensembl chr 9:37,485,948...37,503,697 		JBrowse link
G PRSS3 serine protease 3 IAGP ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 9:33,750,679...33,799,231
Ensembl chr 9:33,750,679...33,799,231 		JBrowse link
G RECK reversion inducing cysteine rich protein with kazal motifs IAGP ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 9:36,036,913...36,124,455
Ensembl chr 9:36,036,913...36,124,455 		JBrowse link
G RGP1 RGP1 homolog, RAB6A GEF complex partner 1 IAGP ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 9:35,749,287...35,790,428
Ensembl chr 9:35,749,287...35,758,585 		JBrowse link
G RIGI RNA sensor RIG-I IAGP ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 9:32,455,302...32,526,196
Ensembl chr 9:32,455,302...32,526,348 		JBrowse link
G RMRP RNA component of mitochondrial RNA processing endoribonuclease IAGP ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 9:35,657,750...35,658,019
Ensembl chr 9:35,657,754...35,658,017 		JBrowse link
G RNF38 ring finger protein 38 IAGP ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 9:36,336,400...36,487,669
Ensembl chr 9:36,336,396...36,487,548 		JBrowse link
G RPP25L ribonuclease P/MRP subunit p25 like IAGP ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 9:34,610,495...34,612,097
Ensembl chr 9:34,610,486...34,612,104 		JBrowse link
G RUSC2 RUN and SH3 domain containing 2 IAGP ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 9:35,490,111...35,561,895
Ensembl chr 9:35,490,111...35,561,898 		JBrowse link
G SIGMAR1 sigma non-opioid intracellular receptor 1 IAGP ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 9:34,634,722...34,637,787
Ensembl chr 9:34,634,722...34,637,844 		JBrowse link
G SIT1 signaling threshold regulating transmembrane adaptor 1 IAGP ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 9:35,649,295...35,650,931
Ensembl chr 9:35,649,295...35,650,931 		JBrowse link
G SMU1 SMU1 DNA replication regulator and spliceosomal factor IAGP ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 9:33,041,765...33,076,674
Ensembl chr 9:33,041,765...33,076,674 		JBrowse link
G SPAG8 sperm associated antigen 8 IAGP ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type
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 9:35,807,785...35,812,262
Ensembl chr 9:35,808,045...35,812,272 		JBrowse link
G SPATA31F1 SPATA31 subfamily F member 1 IAGP ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 9:34,723,053...34,729,488
Ensembl chr 9:34,723,053...34,729,488 		JBrowse link
G SPATA31G1 SPATA31 subfamily G member 1 IAGP ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 9:35,041,095...35,045,986
Ensembl chr 9:35,041,095...35,045,986 		JBrowse link
G SPINK4 serine peptidase inhibitor Kazal type 4 IAGP ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 9:33,240,167...33,248,567
Ensembl chr 9:33,218,365...33,248,567 		JBrowse link
G SPMIP6 sperm microtubule inner protein 6 IAGP ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 9:34,379,019...34,397,810
Ensembl chr 9:34,379,019...34,397,828 		JBrowse link
G STOML2 stomatin like 2 IAGP ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 9:35,099,776...35,103,195
Ensembl chr 9:35,099,776...35,103,195 		JBrowse link
G TAF1L TATA-box binding protein associated factor 1 like IAGP ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 9:32,629,454...32,635,669
Ensembl chr 9:32,629,454...32,635,669 		JBrowse link
G TESK1 testis associated actin remodelling kinase 1 IAGP ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 9:35,605,262...35,610,033
Ensembl chr 9:35,605,262...35,610,041 		JBrowse link
G TLN1 talin 1 IAGP ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 9:35,696,948...35,732,195
Ensembl chr 9:35,696,948...35,732,195 		JBrowse link
G TMEM215 transmembrane protein 215 IAGP ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 9:32,783,540...32,789,201
Ensembl chr 9:32,783,540...32,789,201 		JBrowse link
G TMEM8B transmembrane protein 8B IAGP ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 9:35,829,228...35,865,515
Ensembl chr 9:35,814,451...35,865,518 		JBrowse link
G TOMM5 translocase of outer mitochondrial membrane 5 IAGP ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 9:37,588,413...37,592,597
Ensembl chr 9:37,582,646...37,592,604 		JBrowse link
G TOPORS TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase IAGP ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 9:32,540,544...32,552,586
Ensembl chr 9:32,540,544...32,552,586 		JBrowse link
G TPM2 tropomyosin 2 IAGP ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 9:35,681,993...35,690,056
Ensembl chr 9:35,681,992...35,690,056 		JBrowse link
G TRMT10B tRNA methyltransferase 10B IAGP ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 9:37,752,901...37,778,972
Ensembl chr 9:37,753,803...37,778,972 		JBrowse link
G UBAP1 ubiquitin associated protein 1 IAGP ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 9:34,179,005...34,252,523
Ensembl chr 9:34,179,005...34,252,523 		JBrowse link
G UBAP2 ubiquitin associated protein 2 IAGP ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 9:33,921,693...34,049,199
Ensembl chr 9:33,921,693...34,049,388 		JBrowse link
G UBE2R2 ubiquitin conjugating enzyme E2 R2 IAGP ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 9:33,815,168...33,920,399
Ensembl chr 9:33,817,160...33,920,399 		JBrowse link
G UNC13B unc-13 homolog B IAGP ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 9:35,162,009...35,405,335
Ensembl chr 9:35,161,992...35,405,338 		JBrowse link
G VCP valosin containing protein IAGP ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 9:35,056,064...35,072,625
Ensembl chr 9:35,053,928...35,072,668 		JBrowse link
G ZBTB5 zinc finger and BTB domain containing 5 IAGP ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 9:37,438,102...37,465,450
Ensembl chr 9:37,438,102...37,465,450 		JBrowse link
G ZCCHC7 zinc finger CCHC-type containing 7 IAGP ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 9:37,120,167...37,358,149
Ensembl chr 9:37,120,574...37,358,149 		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 IAGP
EXP		 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		 ClinVar
CTD
OMIM		 PMID:15805157 PMID:22374147 PMID:24129431 PMID:25741868 PMID:25758993 More... NCBI chr 4:94,757,955...95,158,450
Ensembl chr 4:94,757,955...95,158,448 		JBrowse link
acromesomelic dysplasia-4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PRKG2 protein kinase cGMP-dependent 2 IAGP ClinVar Annotator: match by term: Acromesomelic dysplasia 4 OMIM
ClinVar		 PMID:25741868 PMID:33106379 PMID:34782440 NCBI chr 4:81,087,370...81,217,836
Ensembl chr 4:81,087,370...81,215,222 		JBrowse link
G PRKG2-AS1 PRKG2 antisense RNA 1 IAGP ClinVar Annotator: match by term: Acromesomelic dysplasia 4 ClinVar PMID:33106379 NCBI chr 4:81,164,940...81,193,395
Ensembl chr 4:81,164,922...81,193,395 		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 EXP
IAGP		 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 9:133,532,164...133,575,519
Ensembl chr 9:133,532,164...133,575,519 		JBrowse link
G FBN1 fibrillin 1 IAGP
EXP		 ClinVar Annotator: match by term: Acromicric skeletal dysplasia
ClinVar Annotator: match by term: Acromicric dysplasia | ClinVar Annotator: match by term: Acromicric skeletal dysplasia
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:627879 PMID:948948 PMID:960337 PMID:1852206 PMID:2005308 More... NCBI chr15:48,408,313...48,645,709
Ensembl chr15:48,408,313...48,645,721 		JBrowse link
G LOC113939944 Sharpr-MPRA regulatory region 9539 IAGP ClinVar Annotator: match by term: Acromicric skeletal dysplasia ClinVar PMID:17253931 PMID:17663468 PMID:24033266 PMID:24311428 PMID:24941995 More... NCBI chr15:48,520,532...48,520,826 JBrowse link
G LOC126862124 CDK7 strongly-dependent group 2 enhancer GRCh37_chr15:48764566-48765765 IAGP ClinVar Annotator: match by term: Acromicric skeletal dysplasia ClinVar PMID:9399842 PMID:11524736 PMID:11748851 PMID:12938084 PMID:14695540 More... NCBI chr15:48,472,369...48,473,568 JBrowse link
G LOC130057019 ATAC-STARR-seq lymphoblastoid silent region 6417 IAGP ClinVar Annotator: match by term: Acromicric skeletal dysplasia ClinVar PMID:16835936 PMID:19839986 PMID:24033266 PMID:25741868 PMID:26272055 More... NCBI chr15:48,644,684...48,644,733 JBrowse link
G LOC130057020 ATAC-STARR-seq lymphoblastoid silent region 6418 IAGP ClinVar Annotator: match by term: Acromicric skeletal dysplasia ClinVar NCBI chr15:48,644,834...48,644,963 JBrowse link
G SMAD2 SMAD family member 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18677313 NCBI chr18:47,808,957...47,930,872
Ensembl chr18:47,808,957...47,931,146 		JBrowse link
G TGFB1 transforming growth factor beta 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18677313 NCBI chr19:41,330,323...41,353,922
Ensembl chr19:41,301,587...41,353,922 		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 IAGP ClinVar Annotator: match by term: Anadysplasia-like, spontaneously remitting spondylometaphyseal dysplasia ClinVar PMID:18382993 PMID:25348816 PMID:25741868 PMID:28492532 NCBI chr 1:225,401,502...225,428,821
Ensembl chr 1:225,401,502...225,428,925 		JBrowse link
anauxetic dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AL162231.1 uncharacterized LOC730098 IAGP ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:34,664,163...34,666,045
Ensembl chr 9:34,664,163...34,666,112 		JBrowse link
G ARHGEF39 Rho guanine nucleotide exchange factor 39 IAGP ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:35,659,343...35,665,195
Ensembl chr 9:35,658,875...35,675,866 		JBrowse link
G ARID3C AT-rich interaction domain 3C IAGP ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:34,621,049...34,633,011
Ensembl chr 9:34,621,049...34,629,066 		JBrowse link
G ATOSB atos homolog B IAGP ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:35,104,117...35,116,380
Ensembl chr 9:35,104,112...35,116,341 		JBrowse link
G CA9 carbonic anhydrase 9 IAGP ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:35,673,928...35,681,159
Ensembl chr 9:35,673,928...35,681,159 		JBrowse link
G CCDC107 coiled-coil domain containing 107 IAGP ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:8034306 PMID:8444246 PMID:9156319 PMID:10026268 PMID:11207361 More... NCBI chr 9:35,658,292...35,661,511
Ensembl chr 9:35,658,290...35,661,511 		JBrowse link
G CCIN calicin IAGP ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:36,169,388...36,171,334
Ensembl chr 9:36,169,388...36,171,334 		JBrowse link
G CCL19 C-C motif chemokine ligand 19 IAGP ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:34,689,570...34,691,276
Ensembl chr 9:34,689,570...34,691,276 		JBrowse link
G CCL21 C-C motif chemokine ligand 21 IAGP ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:34,709,005...34,710,136
Ensembl chr 9:34,709,005...34,710,136 		JBrowse link
G CCL27 C-C motif chemokine ligand 27 IAGP ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:34,661,890...34,662,657
Ensembl chr 9:34,661,880...34,664,048 		JBrowse link
G CD72 CD72 molecule IAGP ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:35,609,982...35,646,857
Ensembl chr 9:35,609,982...35,646,810 		JBrowse link
G CIMIP2B ciliary microtubule inner protein 2B IAGP ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:35,561,831...35,563,878
Ensembl chr 9:35,561,831...35,563,899 		JBrowse link
G CLTA clathrin light chain A IAGP ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:36,190,874...36,212,059
Ensembl chr 9:36,190,856...36,304,781 		JBrowse link
G CNTFR ciliary neurotrophic factor receptor IAGP ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:34,551,433...34,590,852
Ensembl chr 9:34,551,432...34,590,140 		JBrowse link
G CREB3 cAMP responsive element binding protein 3 IAGP ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:35,732,666...35,736,999
Ensembl chr 9:35,732,598...35,736,999 		JBrowse link
G DCTN3 dynactin subunit 3 IAGP ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:34,613,546...34,620,495
Ensembl chr 9:34,613,545...34,620,523 		JBrowse link
G DNAI1 dynein axonemal intermediate chain 1 IAGP ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:34,458,805...34,520,984
Ensembl chr 9:34,457,414...34,520,988 		JBrowse link
G DNAJB5 DnaJ heat shock protein family (Hsp40) member B5 IAGP ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:34,989,745...34,998,900
Ensembl chr 9:34,989,641...34,998,900 		JBrowse link
G DNAJB5-DT DNAJB5 divergent transcript IAGP ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:34,985,410...34,989,379
Ensembl chr 9:34,984,914...34,997,055 		JBrowse link
G ENHO energy homeostasis associated IAGP ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:34,521,043...34,522,990
Ensembl chr 9:34,521,043...34,522,990 		JBrowse link
G FAM219A family with sequence similarity 219 member A IAGP ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:34,398,184...34,458,570
Ensembl chr 9:34,398,184...34,458,570 		JBrowse link
G FAM221B family with sequence similarity 221 member B IAGP ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:35,816,391...35,828,732
Ensembl chr 9:35,816,391...35,828,747 		JBrowse link
G FANCG FA complementation group G IAGP ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:35,073,839...35,079,942
Ensembl chr 9:35,073,835...35,080,004 		JBrowse link
G GALT galactose-1-phosphate uridylyltransferase IAGP ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:34,646,675...34,651,035
Ensembl chr 9:34,638,133...34,651,035 		JBrowse link
G GBA2 glucosylceramidase beta 2 IAGP ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:35,736,866...35,749,228
Ensembl chr 9:35,736,866...35,749,228 		JBrowse link
G GLIPR2 GLI pathogenesis related 2 IAGP ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:36,136,536...36,163,913
Ensembl chr 9:36,136,536...36,163,913 		JBrowse link
G GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase IAGP ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:36,214,441...36,276,978
Ensembl chr 9:36,214,441...36,277,042 		JBrowse link
G HINT2 histidine triad nucleotide binding protein 2 IAGP ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:35,812,960...35,815,479
Ensembl chr 9:35,812,960...35,815,354 		JBrowse link
G HRCT1 histidine rich carboxyl terminus 1 IAGP ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:35,906,202...35,907,136
Ensembl chr 9:35,906,202...35,907,136 		JBrowse link
G IL11RA interleukin 11 receptor subunit alpha IAGP ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:34,652,185...34,661,902
Ensembl chr 9:34,652,162...34,661,902 		JBrowse link
G LOC101926948 uncharacterized LOC101926948 IAGP ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:35,646,270...35,647,476 JBrowse link
G LOC111365206 GATA motif-containing MPRA enhancer 90 IAGP ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:35,109,327...35,109,471 JBrowse link
G LOC111721710 skeletal muscle cis-regulatory module in TPM2 intron IAGP ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:35,687,890...35,688,367 JBrowse link
G LOC113839547 Sharpr-MPRA regulatory region 8519 IAGP ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:34,992,452...34,992,746 JBrowse link
G LOC113839549 Sharpr-MPRA regulatory region 3537 IAGP ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:35,193,812...35,194,106 JBrowse link
G LOC124252631 Sharpr-MPRA regulatory region 14419 IAGP ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:35,335,232...35,335,526 JBrowse link
G LOC124252632 Sharpr-MPRA regulatory region 2201 IAGP ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:35,599,012...35,599,686 JBrowse link
G LOC124252633 Sharpr-MPRA regulatory region 203 IAGP ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:35,605,688...35,606,127 JBrowse link
G LOC124252634 Sharpr-MPRA regulatory region 3743 IAGP ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:35,661,752...35,662,046 JBrowse link
G LOC124252635 H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:35726478-35727190 IAGP ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:35,726,481...35,727,206 JBrowse link
G LOC124252636 Sharpr-MPRA regulatory region 825 IAGP ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:35,844,612...35,844,906 JBrowse link
G LOC126860618 BRD4-independent group 4 enhancer GRCh37_chr9:35327315-35328514 IAGP ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:35,327,318...35,328,517 JBrowse link
G LOC126860619 CDK7 strongly-dependent group 2 enhancer GRCh37_chr9:35397379-35398578 IAGP ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:35,397,382...35,398,581 JBrowse link
G LOC126860620 BRD4-independent group 4 enhancer GRCh37_chr9:35403221-35404420 IAGP ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:35,403,224...35,404,423 JBrowse link
G LOC126860621 BRD4-independent group 4 enhancer GRCh37_chr9:35710778-35711977 IAGP ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:35,710,781...35,711,980 JBrowse link
G LOC126860622 MED14-independent group 3 enhancer GRCh37_chr9:35752887-35754086 IAGP ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:35,752,890...35,754,089 JBrowse link
G LOC126860623 P300/CBP strongly-dependent group 1 enhancer GRCh37_chr9:35923268-35924467 IAGP ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:35,923,271...35,924,470 JBrowse link
G LOC126860624 CDK7 strongly-dependent group 2 enhancer GRCh37_chr9:35951260-35952459 IAGP ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:35,951,263...35,952,462 JBrowse link
G LOC129390073 MPRA-validated peak7230 silencer IAGP ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:35,291,019...35,291,219 JBrowse link
G LOC129662434 ATAC-STARR-seq lymphoblastoid silent region 19858 IAGP ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:34,989,486...34,989,985 JBrowse link
G LOC130001682 ATAC-STARR-seq lymphoblastoid active region 28313 IAGP ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:34,646,420...34,646,529 JBrowse link
G LOC130001683 ATAC-STARR-seq lymphoblastoid active region 28314 IAGP ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:34,647,100...34,647,279 JBrowse link
G LOC130001684 ATAC-STARR-seq lymphoblastoid silent region 19854 IAGP ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:34,652,141...34,652,240 JBrowse link
G LOC130001685 ATAC-STARR-seq lymphoblastoid silent region 19855 IAGP ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:34,665,370...34,665,619 JBrowse link
G LOC130001686 ATAC-STARR-seq lymphoblastoid silent region 19856 IAGP ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:34,701,410...34,701,729 JBrowse link
G LOC130001687 ATAC-STARR-seq lymphoblastoid active region 28315 IAGP ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:34,956,844...34,956,983 JBrowse link
G LOC130001688 ATAC-STARR-seq lymphoblastoid silent region 19857 IAGP ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:34,958,333...34,958,412 JBrowse link
G LOC130001689 ATAC-STARR-seq lymphoblastoid active region 28316 IAGP ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:34,989,166...34,989,375 JBrowse link
G LOC130001690 ATAC-STARR-seq lymphoblastoid silent region 19859 IAGP ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:35,071,703...35,072,332 JBrowse link
G LOC130001691 ATAC-STARR-seq lymphoblastoid active region 28317 IAGP ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:35,072,733...35,072,782 JBrowse link
G LOC130001692 ATAC-STARR-seq lymphoblastoid active region 28318 IAGP ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:35,072,983...35,073,122 JBrowse link
G LOC130001693 ATAC-STARR-seq lymphoblastoid active region 28319 IAGP ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:35,073,143...35,073,192 JBrowse link
G LOC130001694 ATAC-STARR-seq lymphoblastoid active region 28320 IAGP ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:35,096,258...35,096,597 JBrowse link
G LOC130001695 ATAC-STARR-seq lymphoblastoid active region 28321 IAGP ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:35,102,509...35,102,768 JBrowse link
G LOC130001696 ATAC-STARR-seq lymphoblastoid active region 28322 IAGP ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:35,102,899...35,103,168 JBrowse link
G LOC130001697 ATAC-STARR-seq lymphoblastoid active region 28323 IAGP ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:35,103,179...35,103,228 JBrowse link
G LOC130001698 ATAC-STARR-seq lymphoblastoid active region 28324 IAGP ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:35,103,349...35,103,398 JBrowse link
G LOC130001699 ATAC-STARR-seq lymphoblastoid silent region 19860 IAGP ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:35,111,353...35,111,562 JBrowse link
G LOC130001700 ATAC-STARR-seq lymphoblastoid silent region 19861 IAGP ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:35,111,623...35,111,892 JBrowse link
G LOC130001701 ATAC-STARR-seq lymphoblastoid silent region 19862 IAGP ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:35,116,007...35,116,066 JBrowse link
G LOC130001702 ATAC-STARR-seq lymphoblastoid silent region 19863 IAGP ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:35,161,875...35,162,004 JBrowse link
G LOC130001703 ATAC-STARR-seq lymphoblastoid silent region 19864 IAGP ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:35,489,780...35,490,079 JBrowse link
G LOC130001704 ATAC-STARR-seq lymphoblastoid active region 28325 IAGP ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:35,569,473...35,569,632 JBrowse link
G LOC130001705 ATAC-STARR-seq lymphoblastoid silent region 19865 IAGP ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:35,599,876...35,599,995 JBrowse link
G LOC130001706 ATAC-STARR-seq lymphoblastoid active region 28326 IAGP ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:35,604,498...35,604,607 JBrowse link
G LOC130001707 ATAC-STARR-seq lymphoblastoid silent region 19866 IAGP ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:35,605,088...35,605,337 JBrowse link
G LOC130001708 ATAC-STARR-seq lymphoblastoid silent region 19867 IAGP ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:35,605,368...35,605,667 JBrowse link
G LOC130001709 ATAC-STARR-seq lymphoblastoid active region 28327 IAGP ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:35,617,268...35,617,417 JBrowse link
G LOC130001710 ATAC-STARR-seq lymphoblastoid active region 28328 IAGP ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:35,627,968...35,628,017 JBrowse link
G LOC130001711 ATAC-STARR-seq lymphoblastoid active region 28329 IAGP ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:35,646,442...35,646,821 JBrowse link
G LOC130001712 ATAC-STARR-seq lymphoblastoid active region 28330 IAGP ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:35,649,682...35,649,731 JBrowse link
G LOC130001713 ATAC-STARR-seq lymphoblastoid silent region 19870 IAGP ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:35,650,642...35,650,711 JBrowse link
G LOC130001714 ATAC-STARR-seq lymphoblastoid silent region 19871 IAGP ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:35,658,155...35,658,414 JBrowse link
G LOC130001715 ATAC-STARR-seq lymphoblastoid active region 28331 IAGP ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:35,664,984...35,665,063 JBrowse link
G LOC130001716 ATAC-STARR-seq lymphoblastoid silent region 19872 IAGP ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:35,665,214...35,665,363 JBrowse link
G LOC130001717 ATAC-STARR-seq lymphoblastoid silent region 19873 IAGP ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:35,691,263...35,691,342 JBrowse link
G LOC130001718 ATAC-STARR-seq lymphoblastoid active region 28332 IAGP ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:35,712,072...35,712,121 JBrowse link
G LOC130001719 ATAC-STARR-seq lymphoblastoid active region 28333 IAGP ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:35,730,303...35,730,362 JBrowse link
G LOC130001720 ATAC-STARR-seq lymphoblastoid active region 28334 IAGP ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:35,731,752...35,731,801 JBrowse link
G LOC130001721 ATAC-STARR-seq lymphoblastoid silent region 19874 IAGP ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:35,731,982...35,732,271 JBrowse link
G LOC130001722 ATAC-STARR-seq lymphoblastoid silent region 19875 IAGP ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:35,732,312...35,732,471 JBrowse link
G LOC130001723 ATAC-STARR-seq lymphoblastoid active region 28335 IAGP ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:35,732,602...35,732,651 JBrowse link
G LOC130001724 ATAC-STARR-seq lymphoblastoid active region 28336 IAGP ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:35,732,702...35,732,791 JBrowse link
G LOC130001725 ATAC-STARR-seq lymphoblastoid silent region 19876 IAGP ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:35,748,927...35,749,326 JBrowse link
G LOC130001726 ATAC-STARR-seq lymphoblastoid silent region 19877 IAGP ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:35,749,447...35,749,496 JBrowse link
G LOC130001727 ATAC-STARR-seq lymphoblastoid silent region 19878 IAGP ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:35,749,527...35,749,576 JBrowse link
G LOC130001728 ATAC-STARR-seq lymphoblastoid silent region 19879 IAGP ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:35,756,997...35,757,316 JBrowse link
G LOC130001729 ATAC-STARR-seq lymphoblastoid silent region 19880 IAGP ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:35,798,942...35,799,001 JBrowse link
G LOC130001730 ATAC-STARR-seq lymphoblastoid silent region 19881 IAGP ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:35,814,855...35,815,174 JBrowse link
G LOC130001731 ATAC-STARR-seq lymphoblastoid active region 28338 IAGP ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:35,815,235...35,815,414 JBrowse link
G LOC130001732 ATAC-STARR-seq lymphoblastoid silent region 19882 IAGP ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:35,815,505...35,815,684 JBrowse link
G LOC130001733 ATAC-STARR-seq lymphoblastoid active region 28339 IAGP ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:35,826,097...35,826,456 JBrowse link
G LOC130001734 ATAC-STARR-seq lymphoblastoid silent region 19883 IAGP ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:35,829,085...35,829,534 JBrowse link
G LOC130001735 ATAC-STARR-seq lymphoblastoid active region 28340 IAGP ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:35,840,137...35,840,326 JBrowse link
G LOC130001736 ATAC-STARR-seq lymphoblastoid active region 28341 IAGP ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:35,848,045...35,848,184 JBrowse link
G LOC130001737 ATAC-STARR-seq lymphoblastoid active region 28342 IAGP ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:35,848,375...35,848,444 JBrowse link
G LOC130001738 ATAC-STARR-seq lymphoblastoid active region 28343 IAGP ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:35,848,475...35,848,594 JBrowse link
G LOC130001739 ATAC-STARR-seq lymphoblastoid silent region 19884 IAGP ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:35,911,046...35,911,125 JBrowse link
G LOC130001740 ATAC-STARR-seq lymphoblastoid silent region 19885 IAGP ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:36,036,833...36,037,032 JBrowse link
G LOC130001741 ATAC-STARR-seq lymphoblastoid silent region 19886 IAGP ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:36,037,043...36,037,192 JBrowse link
G LOC130001742 ATAC-STARR-seq lymphoblastoid silent region 19887 IAGP ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:36,064,631...36,064,680 JBrowse link
G LOC130001743 ATAC-STARR-seq lymphoblastoid active region 28344 IAGP ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:36,092,827...36,093,046 JBrowse link
G LOC130001744 ATAC-STARR-seq lymphoblastoid silent region 19888 IAGP ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:36,136,385...36,136,954 JBrowse link
G LOC130001745 ATAC-STARR-seq lymphoblastoid silent region 19889 IAGP ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:36,136,985...36,137,034 JBrowse link
G LOC130001746 ATAC-STARR-seq lymphoblastoid active region 28345 IAGP ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:36,148,506...36,148,555 JBrowse link
G LOC130001747 ATAC-STARR-seq lymphoblastoid active region 28346 IAGP ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:36,148,896...36,148,975 JBrowse link
G LOC130001748 ATAC-STARR-seq lymphoblastoid active region 28347 IAGP ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:36,166,294...36,166,403 JBrowse link
G LOC130001749 ATAC-STARR-seq lymphoblastoid silent region 19891 IAGP ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:36,258,189...36,258,348 JBrowse link
G LOC130001750 ATAC-STARR-seq lymphoblastoid active region 28349 IAGP ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:36,258,649...36,258,878 JBrowse link
G MIR4667 microRNA 4667 IAGP ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:35,608,094...35,608,159
Ensembl chr 9:35,608,094...35,608,159 		JBrowse link
G MIR6852 microRNA 6852 IAGP ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:35,710,676...35,710,741
Ensembl chr 9:35,710,676...35,710,741 		JBrowse link
G MIR6853 microRNA 6853 IAGP ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:35,732,922...35,732,995
Ensembl chr 9:35,732,922...35,732,995 		JBrowse link
G MSMP microseminoprotein, prostate associated IAGP ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:35,752,990...35,754,276
Ensembl chr 9:35,752,990...35,756,613 		JBrowse link
G MYORG myogenesis regulating glycosidase IAGP ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:34,366,666...34,376,898
Ensembl chr 9:34,366,666...34,376,898 		JBrowse link
G NPR2 natriuretic peptide receptor 2 IAGP ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:35,791,591...35,809,731
Ensembl chr 9:35,791,003...35,809,732 		JBrowse link
G OR13J1 olfactory receptor family 13 subfamily J member 1 IAGP ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:35,869,463...35,870,401
Ensembl chr 9:35,869,463...35,870,401 		JBrowse link
G OR2S2 olfactory receptor family 2 subfamily S member 2 IAGP ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:35,957,108...35,958,154
Ensembl chr 9:35,957,108...35,958,154 		JBrowse link
G PHF24 PHD finger protein 24 IAGP ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:34,665,607...34,982,544
Ensembl chr 9:34,957,608...34,982,544 		JBrowse link
G PIGO phosphatidylinositol glycan anchor biosynthesis class O IAGP ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:35,088,688...35,096,591
Ensembl chr 9:35,085,493...35,096,619 		JBrowse link
G PIGO-AS1 PIGO antisense RNA 1 IAGP ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:35,096,304...35,103,752
Ensembl chr 9:35,096,313...35,098,141 		JBrowse link
G RECK reversion inducing cysteine rich protein with kazal motifs IAGP ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:36,036,913...36,124,455
Ensembl chr 9:36,036,913...36,124,455 		JBrowse link
G RGP1 RGP1 homolog, RAB6A GEF complex partner 1 IAGP ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:35,749,287...35,790,428
Ensembl chr 9:35,749,287...35,758,585 		JBrowse link
G RMRP RNA component of mitochondrial RNA processing endoribonuclease IAGP ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:8034306 PMID:8444246 PMID:9156319 PMID:10026268 PMID:11152140 More... NCBI chr 9:35,657,750...35,658,019
Ensembl chr 9:35,657,754...35,658,017 		JBrowse link
G RPP25L ribonuclease P/MRP subunit p25 like IAGP ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:34,610,495...34,612,097
Ensembl chr 9:34,610,486...34,612,104 		JBrowse link
G RUSC2 RUN and SH3 domain containing 2 IAGP ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:35,490,111...35,561,895
Ensembl chr 9:35,490,111...35,561,898 		JBrowse link
G SIGMAR1 sigma non-opioid intracellular receptor 1 IAGP ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:34,634,722...34,637,787
Ensembl chr 9:34,634,722...34,637,844 		JBrowse link
G SIT1 signaling threshold regulating transmembrane adaptor 1 IAGP ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:35,649,295...35,650,931
Ensembl chr 9:35,649,295...35,650,931 		JBrowse link
G SPAAR small regulatory polypeptide of amino acid response IAGP ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:35,909,490...35,911,686
Ensembl chr 9:35,909,490...35,937,153 		JBrowse link
G SPAG8 sperm associated antigen 8 IAGP ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:35,807,785...35,812,262
Ensembl chr 9:35,808,045...35,812,272 		JBrowse link
G SPATA31F1 SPATA31 subfamily F member 1 IAGP ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:34,723,053...34,729,488
Ensembl chr 9:34,723,053...34,729,488 		JBrowse link
G SPATA31F3 SPATA31 subfamily F member 3 IAGP ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:34,889,066...34,895,764
Ensembl chr 9:34,889,066...34,895,764 		JBrowse link
G SPATA31G1 SPATA31 subfamily G member 1 IAGP ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:35,041,095...35,045,986
Ensembl chr 9:35,041,095...35,045,986 		JBrowse link
G SPMIP6 sperm microtubule inner protein 6 IAGP ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:34,379,019...34,397,810
Ensembl chr 9:34,379,019...34,397,828 		JBrowse link
G STOML2 stomatin like 2 IAGP ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:35,099,776...35,103,195
Ensembl chr 9:35,099,776...35,103,195 		JBrowse link
G TESK1 testis associated actin remodelling kinase 1 IAGP ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:35,605,262...35,610,033
Ensembl chr 9:35,605,262...35,610,041 		JBrowse link
G TLN1 talin 1 IAGP ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:35,696,948...35,732,195
Ensembl chr 9:35,696,948...35,732,195 		JBrowse link
G TMEM8B transmembrane protein 8B IAGP ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:35,829,228...35,865,515
Ensembl chr 9:35,814,451...35,865,518 		JBrowse link
G TPM2 tropomyosin 2 IAGP ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:35,681,993...35,690,056
Ensembl chr 9:35,681,992...35,690,056 		JBrowse link
G UNC13B unc-13 homolog B IAGP ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:35,162,009...35,405,335
Ensembl chr 9:35,161,992...35,405,338 		JBrowse link
G VCP valosin containing protein IAGP ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:35,056,064...35,072,625
Ensembl chr 9:35,053,928...35,072,668 		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 IAGP ClinVar Annotator: match by term: Spondylometaepiphyseal dysplasia Menger type ClinVar PMID:8034306 PMID:8444246 PMID:9156319 PMID:10026268 PMID:11207361 More... NCBI chr 9:35,658,292...35,661,511
Ensembl chr 9:35,658,290...35,661,511 		JBrowse link
G POP1 POP1 homolog, ribonuclease P/MRP subunit EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr 8:98,117,293...98,159,835
Ensembl chr 8:98,117,293...98,159,835 		JBrowse link
G RMRP RNA component of mitochondrial RNA processing endoribonuclease IAGP
EXP		 ClinVar Annotator: match by term: Anauxetic dysplasia 1
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		 ClinVar
CTD
OMIM		 PMID:8034306 PMID:8444246 PMID:8723091 PMID:9156319 PMID:10026268 More... NCBI chr 9:35,657,750...35,658,019
Ensembl chr 9:35,657,754...35,658,017 		JBrowse link
anauxetic dysplasia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G POP1 POP1 homolog, ribonuclease P/MRP subunit IAGP ClinVar Annotator: match by term: Anauxetic dysplasia 2
ClinVar Annotator: match by term: POP1-related condition		 ClinVar
OMIM		 PMID:21455487 PMID:21534943 PMID:25741868 PMID:27380734 PMID:28067412 More... NCBI chr 8:98,117,293...98,159,835
Ensembl chr 8:98,117,293...98,159,835 		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 IAGP ClinVar Annotator: match by term: Anauxetic dysplasia 3 ClinVar
OMIM		 PMID:25741868 PMID:26633546 PMID:29620724 PMID:31250547 NCBI chr 3:113,002,444...113,019,671
Ensembl chr 3:113,002,444...113,019,861 		JBrowse link
asphyxiating thoracic dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AL133297.2 novel transcript, antisense to IFT140 IAGP ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:22503633 PMID:23418020 More... NCBI chr16:1,580,527...1,610,328
Ensembl chr16:1,580,527...1,610,328 		JBrowse link
G ANGPTL5 angiopoietin like 5 IAGP ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar PMID:23339108 PMID:24781753 PMID:28492532 PMID:31413057 PMID:32753734 NCBI chr11:101,890,674...101,916,522
Ensembl chr11:101,890,674...101,916,522 		JBrowse link
G B9D1 B9 domain containing 1 IAGP ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar PMID:25741868 NCBI chr17:19,334,695...19,377,913
Ensembl chr17:19,334,308...19,378,193 		JBrowse link
G BIRC2 baculoviral IAP repeat containing 2 IAGP ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar PMID:23339108 PMID:24781753 PMID:28492532 PMID:31413057 PMID:32753734 NCBI chr11:102,347,214...102,378,670
Ensembl chr11:102,347,211...102,378,670 		JBrowse link
G BIRC3 baculoviral IAP repeat containing 3 IAGP ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar PMID:23339108 PMID:24781753 PMID:28492532 PMID:31413057 PMID:32753734 NCBI chr11:102,317,484...102,339,403
Ensembl chr11:102,317,484...102,339,403 		JBrowse link
G C2CD3 C2 domain containing 3 centriole elongation regulator IAGP ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar PMID:25741868 PMID:26092869 NCBI chr11:74,012,718...74,171,002
Ensembl chr11:74,012,718...74,171,210 		JBrowse link
G CEP120 centrosomal protein 120 EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr 5:123,344,892...123,423,842
Ensembl chr 5:123,344,890...123,423,592 		JBrowse link
G CEP126 centrosomal protein 126 IAGP ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar PMID:23339108 PMID:24781753 PMID:28492532 PMID:31413057 PMID:32753734 NCBI chr11:101,915,010...102,001,062
Ensembl chr11:101,915,010...102,001,062 		JBrowse link
G CFAP300 cilia and flagella associated protein 300 IAGP ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar PMID:23339108 PMID:24781753 PMID:28492532 PMID:31413057 PMID:32753734 NCBI chr11:102,047,437...102,084,554
Ensembl chr11:102,047,437...102,084,554 		JBrowse link
G CILK1 ciliogenesis associated kinase 1 IAGP ClinVar Annotator: match by term: Short rib-polydactyly syndrome ClinVar PMID:27466187 NCBI chr 6:53,001,303...53,061,824
Ensembl chr 6:53,001,279...53,061,824 		JBrowse link
G COL2A1 collagen type II alpha 1 chain IAGP ClinVar Annotator: match by term: Short ribs ClinVar PMID:7695699 PMID:8218237 PMID:9016532 PMID:17078022 PMID:19344236 More... NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554 		JBrowse link
G CSRNP3 cysteine and serine rich nuclear protein 3 IAGP ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More... NCBI chr 2:165,469,698...165,689,407
Ensembl chr 2:165,469,647...165,689,407 		JBrowse link
G DCUN1D5 defective in cullin neddylation 1 domain containing 5 IAGP ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar PMID:23339108 PMID:24781753 PMID:28492532 PMID:31413057 PMID:32753734 NCBI chr11:103,050,686...103,092,160
Ensembl chr11:103,050,686...103,092,194 		JBrowse link
G DYNC2H1 dynein cytoplasmic 2 heavy chain 1 EXP
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Jeune thoracic dystrophy | ClinVar Annotator: match by term: Short rib-polydactyly syndrome
ClinVar Annotator: match by term: Jeune thoracic dystrophy | ClinVar Annotator: match by term: Short rib-polydactyly syndrome | ClinVar Annotator: match by term: Thoracic pelvic phalangeal dystrophy
DNA:missense mutations:cds:multiple(human)		 CTD
ClinVar
RGD		 PMID:6938784 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19361615 More... RGD:11072153 NCBI chr11:103,109,426...103,479,863
Ensembl chr11:103,109,410...103,479,863 		JBrowse link
G DYNC2I1 dynein 2 intermediate chain 1 EXP
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Jeune thoracic dystrophy		 CTD
ClinVar		 PMID:25741868 PMID:28492532 PMID:29068549 NCBI chr 7:158,839,245...158,958,698
Ensembl chr 7:158,856,558...158,956,747 		JBrowse link
G DYNC2I2 dynein 2 intermediate chain 2 EXP
IAGP		 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 9:128,633,653...128,684,460
Ensembl chr 9:128,633,653...128,656,847 		JBrowse link
G DYNC2LI1 dynein cytoplasmic 2 light intermediate chain 1 EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:43,774,039...43,828,347
Ensembl chr 2:43,774,039...43,810,010 		JBrowse link
G DYNLT2B dynein light chain Tctex-type 2B EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:196,291,219...196,318,240
Ensembl chr 3:196,291,219...196,318,299 		JBrowse link
G EVC2 EvC ciliary complex subunit 2 IAGP ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar PMID:16199547 PMID:17024374 PMID:19251731 PMID:19810119 PMID:19876929 More... NCBI chr 4:5,529,011...5,709,548
Ensembl chr 4:5,542,772...5,709,548 		JBrowse link
G FGFR3 fibroblast growth factor receptor 3 IAGP ClinVar Annotator: match by term: Short ribs ClinVar PMID:1908846 PMID:7773297 PMID:8640234 PMID:8858131 PMID:9438390 More... NCBI chr 4:1,793,293...1,808,867
Ensembl chr 4:1,793,293...1,808,872 		JBrowse link
G FLVCR1 FLVCR choline and heme transporter 1 IAGP ClinVar Annotator: match by term: Jeune thoracic dystrophy | ClinVar Annotator: match by term: Short rib-polydactyly syndrome ClinVar PMID:27666822 NCBI chr 1:212,858,275...212,899,363
Ensembl chr 1:212,858,275...212,899,363 		JBrowse link
G FUZ fuzzy planar cell polarity protein IAGP ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar PMID:29068549 NCBI chr19:49,806,866...49,813,553
Ensembl chr19:49,806,866...49,817,376 		JBrowse link
G GALNT3 polypeptide N-acetylgalactosaminyltransferase 3 IAGP ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More... NCBI chr 2:165,747,588...165,794,692
Ensembl chr 2:165,747,588...165,846,201 		JBrowse link
G GRK2 G protein-coupled receptor kinase 2 IAGP ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar PMID:33200460 NCBI chr11:67,266,473...67,286,556
Ensembl chr11:67,266,473...67,286,556 		JBrowse link
G IFT140 intraflagellar transport 140 EXP
IAGP		 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 chr16:1,510,427...1,612,072
Ensembl chr16:1,510,427...1,612,072 		JBrowse link
G IFT172 intraflagellar transport 172 EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:27,444,377...27,489,743
Ensembl chr 2:27,444,377...27,489,805 		JBrowse link
G IFT43 intraflagellar transport 43 IAGP 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 chr14:75,985,763...76,084,073
Ensembl chr14:75,902,136...76,084,585 		JBrowse link
G IFT52 intraflagellar transport 52 EXP
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Short rib-polydactyly syndrome
ClinVar Annotator: match by term: Jeune thoracic dystrophy		 CTD
ClinVar		 PMID:27466190 PMID:28492532 PMID:29068549 NCBI chr20:43,590,937...43,647,299
Ensembl chr20:43,590,937...43,647,299 		JBrowse link
G IFT74 intraflagellar transport 74 IAGP ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar PMID:29068549 NCBI chr 9:26,947,110...27,066,134
Ensembl chr 9:26,947,039...27,066,134 		JBrowse link
G IFT80 intraflagellar transport 80 IAGP ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar PMID:9536098 PMID:16199547 PMID:17468754 PMID:17576681 PMID:19610081 More... NCBI chr 3:160,256,986...160,399,225
Ensembl chr 3:160,256,986...160,399,880 		JBrowse link
G IFT81 intraflagellar transport 81 IAGP ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar PMID:25741868 PMID:26275418 PMID:27666822 PMID:28492532 NCBI chr12:110,124,357...110,218,793
Ensembl chr12:110,124,335...110,218,793 		JBrowse link
G IFT88 intraflagellar transport 88 IAGP ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar PMID:29068549 NCBI chr13:20,567,157...20,691,444
Ensembl chr13:20,567,138...20,691,444 		JBrowse link
G INTU inturned planar cell polarity protein IAGP 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 4:127,632,957...127,726,737
Ensembl chr 4:127,623,271...127,726,737 		JBrowse link
G KIAA0586 KIAA0586 EXP
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Jeune thoracic dystrophy		 CTD
ClinVar		 PMID:25741868 NCBI chr14:58,427,400...58,562,090
Ensembl chr14:58,427,385...58,551,297 		JBrowse link
G KIAA0753 KIAA0753 IAGP ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar PMID:25741868 PMID:28492532 PMID:29138412 PMID:31816441 PMID:34529350 NCBI chr17:6,578,147...6,640,711
Ensembl chr17:6,578,147...6,640,711 		JBrowse link
G LBR lamin B receptor IAGP 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 1:225,401,502...225,428,821
Ensembl chr 1:225,401,502...225,428,925 		JBrowse link
G LOC112939934 Sharpr-MPRA regulatory region 13789 IAGP ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar NCBI chr 4:39,182,198...39,182,523 JBrowse link
G LOC126807151 CDK7 strongly-dependent group 2 enhancer GRCh37_chr4:128607842-128609041 IAGP ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar PMID:29068549 NCBI chr 4:127,686,687...127,687,886 JBrowse link
G LOC126860772 CDK7 strongly-dependent group 2 enhancer GRCh37_chr9:131396972-131398171 IAGP ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar PMID:19610081 PMID:24183451 PMID:28492532 PMID:29068549 PMID:32576942 NCBI chr 9:128,634,693...128,635,892 JBrowse link
G LOC129932486 ATAC-STARR-seq lymphoblastoid silent region 1807 IAGP ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar PMID:27666822 NCBI chr 1:212,858,516...212,858,725 JBrowse link
G MATN3 matrilin 3 IAGP ClinVar Annotator: match by term: Jeune thoracic dystrophy | ClinVar Annotator: match by term: Short rib-polydactyly syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:19,992,052...20,012,668
Ensembl chr 2:19,992,052...20,012,668 		JBrowse link
G MMP1 matrix metallopeptidase 1 IAGP ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar PMID:23339108 PMID:24781753 PMID:28492532 PMID:31413057 PMID:32753734 NCBI chr11:102,789,919...102,798,160
Ensembl chr11:102,789,401...102,798,160 		JBrowse link
G MMP10 matrix metallopeptidase 10 IAGP ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar PMID:23339108 PMID:24781753 PMID:28492532 PMID:31413057 PMID:32753734 NCBI chr11:102,770,502...102,780,628
Ensembl chr11:102,770,502...102,780,628 		JBrowse link
G MMP12 matrix metallopeptidase 12 IAGP ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar PMID:23339108 PMID:24781753 PMID:28492532 PMID:31413057 PMID:32753734 NCBI chr11:102,862,736...102,874,982
Ensembl chr11:102,862,736...102,874,982 		JBrowse link
G MMP13 matrix metallopeptidase 13 IAGP ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar PMID:23339108 PMID:24781753 PMID:28492532 PMID:31413057 PMID:32753734 NCBI chr11:102,942,995...102,955,732
Ensembl chr11:102,942,995...102,955,732 		JBrowse link
G MMP20 matrix metallopeptidase 20 IAGP ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar PMID:23339108 PMID:24781753 PMID:28492532 PMID:31413057 PMID:32753734 NCBI chr11:102,576,832...102,625,332
Ensembl chr11:102,576,832...102,625,332 		JBrowse link
G MMP27 matrix metallopeptidase 27 IAGP ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar PMID:23339108 PMID:24781753 PMID:28492532 PMID:31413057 PMID:32753734 NCBI chr11:102,691,487...102,705,769
Ensembl chr11:102,691,487...102,705,769 		JBrowse link
G MMP3 matrix metallopeptidase 3 IAGP ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar PMID:23339108 PMID:24781753 PMID:28492532 PMID:31413057 PMID:32753734 NCBI chr11:102,835,801...102,843,609
Ensembl chr11:102,835,801...102,843,609 		JBrowse link
G MMP7 matrix metallopeptidase 7 IAGP ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar PMID:23339108 PMID:24781753 PMID:28492532 PMID:31413057 PMID:32753734 NCBI chr11:102,520,508...102,530,747
Ensembl chr11:102,520,508...102,530,750 		JBrowse link
G MMP8 matrix metallopeptidase 8 IAGP ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar PMID:23339108 PMID:24781753 PMID:28492532 PMID:31413057 PMID:32753734 NCBI chr11:102,711,796...102,724,954
Ensembl chr11:102,711,796...102,727,050 		JBrowse link
G NEK1 NIMA related kinase 1 IAGP
EXP		 DNA:missense, frameshift, nonsense mutations:cds,splice junction:
ClinVar Annotator: match by term: Short rib-polydactyly syndrome
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Jeune thoracic dystrophy
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 4:169,392,809...169,612,583
Ensembl chr 4:169,369,704...169,612,632 		JBrowse link
G RAB34 RAB34, member RAS oncogene family IAGP ClinVar Annotator: match by term: Jeune's syndrome ClinVar PMID:25741868 PMID:37619988 NCBI chr17:28,714,281...28,718,428
Ensembl chr17:28,714,281...28,718,429 		JBrowse link
G SCN1A sodium voltage-gated channel alpha subunit 1 IAGP ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More... NCBI chr 2:165,984,641...166,149,161
Ensembl chr 2:165,984,641...166,182,806 		JBrowse link
G SCN2A sodium voltage-gated channel alpha subunit 2 IAGP ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More... NCBI chr 2:165,239,414...165,392,304
Ensembl chr 2:165,194,993...165,392,310 		JBrowse link
G SCN3A sodium voltage-gated channel alpha subunit 3 IAGP ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More... NCBI chr 2:165,087,526...165,204,050
Ensembl chr 2:165,087,526...165,204,050 		JBrowse link
G SCN9A sodium voltage-gated channel alpha subunit 9 IAGP ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More... NCBI chr 2:166,195,185...166,375,987
Ensembl chr 2:166,195,185...166,376,001 		JBrowse link
G SLTM SAFB like transcription modulator IAGP ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar PMID:27666822 NCBI chr15:58,879,050...58,933,679
Ensembl chr15:58,879,050...58,933,679 		JBrowse link
G SMARCAD1 SNF2 related chromatin remodeling ATPase with DExD box 1 ISS MouseDO NCBI chr 4:94,207,608...94,291,292
Ensembl chr 4:94,207,611...94,291,292 		JBrowse link
G SPTAN1 spectrin alpha, non-erythrocytic 1 IAGP ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar PMID:24183451 PMID:28492532 PMID:29068549 NCBI chr 9:128,552,587...128,633,662
Ensembl chr 9:128,552,558...128,633,662 		JBrowse link
G TMEM123 transmembrane protein 123 IAGP ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar PMID:23339108 PMID:24781753 PMID:28492532 PMID:31413057 PMID:32753734 NCBI chr11:102,396,332...102,452,765
Ensembl chr11:102,396,332...102,470,384 		JBrowse link
G TRAF3IP1 TRAF3 interacting protein 1 IAGP ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar PMID:16199547 PMID:21945076 PMID:26487268 PMID:28492532 PMID:29068549 NCBI chr 2:238,320,518...238,400,900
Ensembl chr 2:238,320,441...238,400,897 		JBrowse link
G TRIM59-IFT80 TRIM59-IFT80 readthrough (NMD candidate) IAGP ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar PMID:9536098 PMID:16199547 PMID:17468754 PMID:17576681 PMID:19610081 More... NCBI chr 3:160,227,454...160,485,747
Ensembl chr 3:160,227,454...160,449,829 		JBrowse link
G TRPC6 transient receptor potential cation channel subfamily C member 6 IAGP ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar PMID:23339108 PMID:24781753 PMID:28492532 PMID:31413057 PMID:32753734 NCBI chr11:101,451,564...101,584,007
Ensembl chr11:101,451,564...101,872,562 		JBrowse link
G TTC21B tetratricopeptide repeat domain 21B EXP
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Jeune thoracic dystrophy | 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		 CTD
ClinVar		 PMID:9536098 PMID:15133511 PMID:16199547 PMID:16865694 PMID:17347258 More... NCBI chr 2:165,873,362...165,953,776
Ensembl chr 2:165,857,475...165,953,851 		JBrowse link
G TTC21B-AS1 TTC21B antisense RNA 1 IAGP ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:18327258 PMID:18414213 More... NCBI chr 2:165,933,857...165,948,321
Ensembl chr 2:165,933,749...165,949,891 		JBrowse link
G WDR19 WD repeat domain 19 IAGP ClinVar Annotator: match by term: Jeune thoracic dystrophy
ClinVar Annotator: match by term: Jeune's syndrome		 ClinVar PMID:16199547 PMID:22019273 PMID:23559409 PMID:23683095 PMID:24504730 More... NCBI chr 4:39,182,529...39,285,810
Ensembl chr 4:39,182,504...39,285,810 		JBrowse link
G WDR35 WD repeat domain 35 EXP
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Short rib-polydactyly syndrome
ClinVar Annotator: match by term: Jeune thoracic dystrophy		 CTD
ClinVar		 PMID:22486404 PMID:24033266 PMID:25741868 PMID:25914204 PMID:27158779 More... NCBI chr 2:19,910,263...19,990,105
Ensembl chr 2:19,910,263...19,990,105 		JBrowse link
G WDR35-DT WDR35 divergent transcript IAGP ClinVar Annotator: match by term: Short rib-polydactyly syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:19,990,204...20,004,806
Ensembl chr 2:19,990,165...20,004,823 		JBrowse link
G YAP1 Yes1 associated transcriptional regulator IAGP ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar PMID:23339108 PMID:24781753 PMID:28492532 PMID:31413057 PMID:32753734 NCBI chr11:102,110,447...102,233,424
Ensembl chr11:102,110,447...102,233,424 		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 IAGP ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 1 ClinVar PMID:26077881 NCBI chr 2:43,806,211...43,839,231
Ensembl chr 2:43,812,472...43,838,865 		JBrowse link
G AL133297.2 novel transcript, antisense to IFT140 IAGP ClinVar Annotator: match by term: Short-rib thoracic dysplasia 1 with or without polydactyly
ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome		 ClinVar PMID:9536098 PMID:17576681 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr16:1,580,527...1,610,328
Ensembl chr16:1,580,527...1,610,328 		JBrowse link
G CSRNP3 cysteine and serine rich nuclear protein 3 IAGP ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome ClinVar PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More... NCBI chr 2:165,469,698...165,689,407
Ensembl chr 2:165,469,647...165,689,407 		JBrowse link
G DYNC2H1 dynein cytoplasmic 2 heavy chain 1 IAGP ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome
ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 1		 ClinVar PMID:19442771 PMID:23339108 PMID:23456818 PMID:25741868 PMID:26874042 More... NCBI chr11:103,109,426...103,479,863
Ensembl chr11:103,109,410...103,479,863 		JBrowse link
G DYNC2I1 dynein 2 intermediate chain 1 IAGP ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome ClinVar PMID:25741868 PMID:28492532 PMID:29068549 NCBI chr 7:158,839,245...158,958,698
Ensembl chr 7:158,856,558...158,956,747 		JBrowse link
G DYNC2LI1 dynein cytoplasmic 2 light intermediate chain 1 IAGP ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 1 ClinVar PMID:9536098 PMID:17576681 PMID:26077881 PMID:26130459 PMID:28492532 More... NCBI chr 2:43,774,039...43,828,347
Ensembl chr 2:43,774,039...43,810,010 		JBrowse link
G EVC2 EvC ciliary complex subunit 2 IAGP ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome ClinVar PMID:17024374 PMID:19251731 PMID:19810119 PMID:19876929 PMID:28492532 More... NCBI chr 4:5,529,011...5,709,548
Ensembl chr 4:5,542,772...5,709,548 		JBrowse link
G GALNT3 polypeptide N-acetylgalactosaminyltransferase 3 IAGP ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome ClinVar PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More... NCBI chr 2:165,747,588...165,794,692
Ensembl chr 2:165,747,588...165,846,201 		JBrowse link
G IFT140 intraflagellar transport 140 ISS
IAGP		 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 chr16:1,510,427...1,612,072
Ensembl chr16:1,510,427...1,612,072 		JBrowse link
G IFT172 intraflagellar transport 172 IAGP ClinVar Annotator: match by term: Short-rib thoracic dysplasia 1 with or without polydactyly ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:27,444,377...27,489,743
Ensembl chr 2:27,444,377...27,489,805 		JBrowse link
G IFT80 intraflagellar transport 80 IAGP ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome ClinVar PMID:9536098 PMID:17576681 PMID:19648123 PMID:25741868 PMID:28492532 More... NCBI chr 3:160,256,986...160,399,225
Ensembl chr 3:160,256,986...160,399,880 		JBrowse link
G LBR lamin B receptor IAGP ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome ClinVar PMID:25741868 PMID:28492532 PMID:28600779 PMID:29068549 NCBI chr 1:225,401,502...225,428,821
Ensembl chr 1:225,401,502...225,428,925 		JBrowse link
G LOC126806173 BRD4-independent group 4 enhancer GRCh37_chr2:27676057-27677256 IAGP ClinVar Annotator: match by term: Short-rib thoracic dysplasia 1 with or without polydactyly ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:27,453,190...27,454,389 JBrowse link
G NEK1 NIMA related kinase 1 IAGP ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 1 ClinVar PMID:25741868 NCBI chr 4:169,392,809...169,612,583
Ensembl chr 4:169,369,704...169,612,632 		JBrowse link
G RAB34 RAB34, member RAS oncogene family IAGP ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome ClinVar PMID:25741868 PMID:37619988 NCBI chr17:28,714,281...28,718,428
Ensembl chr17:28,714,281...28,718,429 		JBrowse link
G SCN1A sodium voltage-gated channel alpha subunit 1 IAGP ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome ClinVar PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More... NCBI chr 2:165,984,641...166,149,161
Ensembl chr 2:165,984,641...166,182,806 		JBrowse link
G SCN2A sodium voltage-gated channel alpha subunit 2 IAGP ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome ClinVar PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More... NCBI chr 2:165,239,414...165,392,304
Ensembl chr 2:165,194,993...165,392,310 		JBrowse link
G SCN3A sodium voltage-gated channel alpha subunit 3 IAGP ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome ClinVar PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More... NCBI chr 2:165,087,526...165,204,050
Ensembl chr 2:165,087,526...165,204,050 		JBrowse link
G SCN9A sodium voltage-gated channel alpha subunit 9 IAGP ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome ClinVar PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More... NCBI chr 2:166,195,185...166,375,987
Ensembl chr 2:166,195,185...166,376,001 		JBrowse link
G TRIM59-IFT80 TRIM59-IFT80 readthrough (NMD candidate) IAGP ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome ClinVar PMID:9536098 PMID:17576681 PMID:19648123 PMID:25741868 PMID:28492532 More... NCBI chr 3:160,227,454...160,485,747
Ensembl chr 3:160,227,454...160,449,829 		JBrowse link
G TTC21B tetratricopeptide repeat domain 21B EXP
IAGP		 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 2:165,873,362...165,953,776
Ensembl chr 2:165,857,475...165,953,851 		JBrowse link
G WDR19 WD repeat domain 19 IAGP ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome ClinVar PMID:22019273 PMID:23559409 PMID:23683095 PMID:25741868 PMID:26275793 More... NCBI chr 4:39,182,529...39,285,810
Ensembl chr 4:39,182,504...39,285,810 		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 IAGP
ISS
EXP		 ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 2
ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 2 | ClinVar Annotator: match by term: SHORT-RIB THORACIC DYSPLASIA 2 WITH OR WITHOUT POLYDACTYLY
OMIM:611263
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM		 PMID:9536098 PMID:16199547 PMID:17468754 PMID:17576681 PMID:19610081 More... NCBI chr 3:160,256,986...160,399,225
Ensembl chr 3:160,256,986...160,399,880 		JBrowse link
G TRIM59-IFT80 TRIM59-IFT80 readthrough (NMD candidate) IAGP ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 2
ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 2 | ClinVar Annotator: match by term: SHORT-RIB THORACIC DYSPLASIA 2 WITH OR WITHOUT POLYDACTYLY		 ClinVar PMID:9536098 PMID:16199547 PMID:17468754 PMID:17576681 PMID:19610081 More... NCBI chr 3:160,227,454...160,485,747
Ensembl chr 3:160,227,454...160,449,829 		JBrowse link
asphyxiating thoracic dystrophy 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BAG3 BAG cochaperone 3 IAGP ClinVar Annotator: match by term: Short-rib polydactyly syndrome type I ClinVar PMID:21361913 PMID:23861362 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr10:119,651,380...119,677,819
Ensembl chr10:119,651,380...119,677,819 		JBrowse link
G DYNC1H1 dynein cytoplasmic 1 heavy chain 1 IAGP ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 3 ClinVar PMID:25741868 PMID:28492532 NCBI chr14:101,964,573...102,056,443
Ensembl chr14:101,964,573...102,056,443 		JBrowse link
G DYNC2H1 dynein cytoplasmic 2 heavy chain 1 IAGP
ISS
EXP		 ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 3
ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 3 | ClinVar Annotator: match by term: DYNC2H1-related disorder
OMIM:613091
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Short-rib thoracic dysplasia 3 with or without polydactyly		 ClinVar
MouseDO
CTD
OMIM		 PMID:6938784 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19361615 More... NCBI chr11:103,109,426...103,479,863
Ensembl chr11:103,109,410...103,479,863 		JBrowse link
G DYNC2I1 dynein 2 intermediate chain 1 IAGP 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 chr 7:158,839,245...158,958,698
Ensembl chr 7:158,856,558...158,956,747 		JBrowse link
G DYNC2I2 dynein 2 intermediate chain 2 IAGP ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 3 ClinVar PMID:29068549 NCBI chr 9:128,633,653...128,684,460
Ensembl chr 9:128,633,653...128,656,847 		JBrowse link
G DYNLT2B dynein light chain Tctex-type 2B IAGP ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 3 ClinVar PMID:25741868 NCBI chr 3:196,291,219...196,318,240
Ensembl chr 3:196,291,219...196,318,299 		JBrowse link
G FAM98C family with sequence similarity 98 member C IAGP ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 3 ClinVar NCBI chr19:38,403,093...38,409,088
Ensembl chr19:38,403,093...38,409,088 		JBrowse link
G IFT80 intraflagellar transport 80 ISS OMIM:613091 MouseDO NCBI chr 3:160,256,986...160,399,225
Ensembl chr 3:160,256,986...160,399,880 		JBrowse link
G KIF24 kinesin family member 24 IAGP ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 3 ClinVar NCBI chr 9:34,252,380...34,333,671
Ensembl chr 9:34,252,380...34,329,268 		JBrowse link
G LOC126860772 CDK7 strongly-dependent group 2 enhancer GRCh37_chr9:131396972-131398171 IAGP ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 3 ClinVar PMID:29068549 NCBI chr 9:128,634,693...128,635,892 JBrowse link
G NEK1 NIMA related kinase 1 IAGP ClinVar Annotator: match by term: Short-rib thoracic dysplasia 3 with or without polydactyly
ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 3		 ClinVar PMID:21211617 PMID:25741868 NCBI chr 4:169,392,809...169,612,583
Ensembl chr 4:169,369,704...169,612,632 		JBrowse link
G TMEM256 transmembrane protein 256 IAGP ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 3 ClinVar NCBI chr17:7,402,975...7,404,097
Ensembl chr17:7,402,975...7,404,097 		JBrowse link
G TMEM256-PLSCR3 TMEM256-PLSCR3 readthrough (NMD candidate) IAGP ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 3 ClinVar NCBI chr17:7,389,727...7,404,131
Ensembl chr17:7,389,734...7,404,097 		JBrowse link
asphyxiating thoracic dystrophy 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC129935046 ATAC-STARR-seq lymphoblastoid active region 16728 IAGP ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 4 ClinVar PMID:25741868 NCBI chr 2:165,874,554...165,874,753 JBrowse link
G TTC21B tetratricopeptide repeat domain 21B IAGP ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 4
ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 4 | ClinVar Annotator: match by term: SHORT-RIB THORACIC DYSPLASIA 4 WITH OR WITHOUT POLYDACTYLY		 ClinVar
OMIM		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18327258 PMID:18414213 More... NCBI chr 2:165,873,362...165,953,776
Ensembl chr 2:165,857,475...165,953,851 		JBrowse link
G TTC21B-AS1 TTC21B antisense RNA 1 IAGP ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 4 ClinVar PMID:18327258 PMID:18414213 PMID:21068128 PMID:21258341 PMID:23559409 More... NCBI chr 2:165,933,857...165,948,321
Ensembl chr 2:165,933,749...165,949,891 		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 IAGP ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 5
ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 5 | ClinVar Annotator: match by term: SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY		 ClinVar
OMIM		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19430947 PMID:22019273 More... NCBI chr 4:39,182,529...39,285,810
Ensembl chr 4:39,182,504...39,285,810 		JBrowse link
atelosteogenesis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLC26A2 solute carrier family 26 member 2 IAGP ClinVar Annotator: match by term: Atelosteogenesis ClinVar NCBI chr 5:149,960,758...149,987,400
Ensembl chr 5:149,960,758...149,993,455 		JBrowse link
Atelosteogenesis Type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FLNB filamin B IAGP
EXP		 ClinVar Annotator: match by term: Atelosteogenesis type I
ClinVar Annotator: match by term: Atelosteogenesis type I | ClinVar Annotator: match by term: Spondylohumerofemoral hypoplasia
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:14991055 PMID:16752402 PMID:20301736 PMID:22190451 PMID:24624349 More... NCBI chr 3:58,008,422...58,172,251
Ensembl chr 3:58,008,398...58,172,251 		JBrowse link
Atelosteogenesis Type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC129994976 ATAC-STARR-seq lymphoblastoid silent region 16504 IAGP ClinVar Annotator: match by term: Atelosteogenesis type 2 | ClinVar Annotator: match by term: Atelosteogenesis type II ClinVar NCBI chr 5:149,960,694...149,960,813 JBrowse link
G SLC26A2 solute carrier family 26 member 2 IAGP
EXP		 ClinVar Annotator: match by term: Atelosteogenesis type 2
ClinVar Annotator: match by term: Atelosteogenesis type 2 | ClinVar Annotator: match by term: Atelosteogenesis type II | ClinVar Annotator: match by term: Neonatal osseous dysplasia 1
ClinVar Annotator: match by term: Atelosteogenesis type 2 | ClinVar Annotator: match by term: Atelosteogenesis type II | ClinVar Annotator: match by term: NEONATAL OSSEOUS DYSPLASIA I | ClinVar Annotator: match by term: Neonatal osseous dysplasia 1
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: De la Chapelle dysplasia		 ClinVar
CTD
OMIM		 PMID:4644462 PMID:7695699 PMID:7923357 PMID:8218237 PMID:8528239 More... NCBI chr 5:149,960,758...149,987,400
Ensembl chr 5:149,960,758...149,993,455 		JBrowse link
Atelosteogenesis Type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FLNB filamin B IAGP ClinVar Annotator: match by term: Atelosteogenesis type III
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 chr 3:58,008,422...58,172,251
Ensembl chr 3:58,008,398...58,172,251 		JBrowse link
G FLNB-AS1 FLNB antisense RNA 1 IAGP ClinVar Annotator: match by term: Atelosteogenesis type III ClinVar NCBI chr 3:58,162,547...58,170,635
Ensembl chr 3:58,162,547...58,170,636 		JBrowse link
G LOC129936935 ATAC-STARR-seq lymphoblastoid active region 19999 IAGP ClinVar Annotator: match by term: Atelosteogenesis type III ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:58,111,782...58,112,051 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 IAGP
EXP		 ClinVar Annotator: match by term: Craniodiaphyseal dysplasia, autosomal dominant
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:17853455 PMID:21221996 PMID:25741868 NCBI chr17:43,753,738...43,758,791
Ensembl chr17:43,753,738...43,758,791 		JBrowse link
autosomal dominant craniometaphyseal dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANKH ANKH inorganic pyrophosphate transport regulator IAGP
EXP		 ClinVar Annotator: match by term: Craniometadiaphyseal dysplasia wormian bone type | ClinVar Annotator: match by term: Craniometaphyseal dysplasia, autosomal dominant
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM
RGD		 PMID:2712793 PMID:11326272 PMID:11326338 PMID:19449425 PMID:20358596 More... RGD:734571 NCBI chr 5:14,704,800...14,871,778
Ensembl chr 5:14,704,800...14,871,778 		JBrowse link
G LOC100130744 uncharacterized LOC100130744 IAGP ClinVar Annotator: match by term: Craniometaphyseal dysplasia, autosomal dominant ClinVar PMID:2712793 PMID:11326272 PMID:11326338 PMID:19449425 PMID:20358596 More... NCBI chr 5:14,712,694...14,716,529 JBrowse link
G LOC129993725 ATAC-STARR-seq lymphoblastoid silent region 15944 IAGP ClinVar Annotator: match by term: Craniometadiaphyseal dysplasia wormian bone type | ClinVar Annotator: match by term: Craniometaphyseal dysplasia, autosomal dominant ClinVar NCBI chr 5:14,871,518...14,871,607 JBrowse link
G OTULIN OTU deubiquitinase with linear linkage specificity IAGP ClinVar Annotator: match by term: Craniometaphyseal dysplasia, autosomal dominant
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 chr 5:14,664,718...14,716,525
Ensembl chr 5:14,664,664...14,716,529 		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 voltage-gated channel Kb IAGP ClinVar Annotator: match by term: Autosomal dominant osteopetrosis 1 ClinVar PMID:25741868 NCBI chr 1:16,043,782...16,057,326
Ensembl chr 1:16,040,252...16,057,311 		JBrowse link
G LOC106501713 CLCNKB recombination region IAGP ClinVar Annotator: match by term: Autosomal dominant osteopetrosis 1 ClinVar PMID:25741868 NCBI chr 1:16,044,593...16,059,459 JBrowse link
G LRP5 LDL receptor related protein 5 IAGP
EXP		 ClinVar Annotator: match by term: Autosomal dominant osteopetrosis 1
ClinVar Annotator: match by term: OSTEOPETROSIS, AUTOSOMAL DOMINANT, TYPE I
ClinVar Annotator: match by term: Autosomal dominant osteopetrosis 1 | ClinVar Annotator: match by term: OSTEOPETROSIS, AUTOSOMAL DOMINANT, TYPE I
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:1002767 PMID:9536098 PMID:10434540 PMID:11701785 PMID:11719191 More... NCBI chr11:68,298,412...68,449,275
Ensembl chr11:68,312,591...68,449,275 		JBrowse link
autosomal dominant osteopetrosis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CLCN7 chloride voltage-gated channel 7 IAGP
ISS		 ClinVar Annotator: match by term: Autosomal dominant osteopetrosis 2
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 chr16:1,444,935...1,475,028
Ensembl chr16:1,444,934...1,475,077 		JBrowse link
G LOC130058166 ATAC-STARR-seq lymphoblastoid silent region 6986 IAGP ClinVar Annotator: match by term: Autosomal dominant osteopetrosis 2 ClinVar PMID:25741868 PMID:28492532 NCBI chr16:1,474,771...1,474,980 JBrowse link
Autosomal Dominant Osteopetrosis 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PLEKHM1 pleckstrin homology and RUN domain containing M1 IAGP ClinVar Annotator: match by term: Osteopetrosis, autosomal dominant 3 ClinVar
OMIM		 PMID:17997709 PMID:25741868 NCBI chr17:45,434,209...45,490,721
Ensembl chr17:45,435,900...45,490,758 		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 IAGP
EXP		 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 chr 6:121,435,646...121,449,727
Ensembl chr 6:121,435,595...121,449,727 		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 LOC121627876 Sharpr-MPRA regulatory region 12022 IAGP ClinVar Annotator: match by term: Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr19:40,606,223...40,606,517 JBrowse link
G LOC130064472 ATAC-STARR-seq lymphoblastoid silent region 10636 IAGP ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type IC ClinVar PMID:25741868 NCBI chr19:40,601,303...40,601,452 JBrowse link
G LOC130064475 ATAC-STARR-seq lymphoblastoid silent region 10639 IAGP 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		 ClinVar PMID:19836010 PMID:25741868 PMID:28492532 NCBI chr19:40,605,610...40,605,859 JBrowse link
G LTBP4 latent transforming growth factor beta binding protein 4 IAGP
EXP		 ClinVar Annotator: match by term: Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities
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 chr19:40,593,166...40,629,820
Ensembl chr19:40,592,883...40,629,818 		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 ISS OMIM:259700 MouseDO NCBI chr16:1,434,383...1,444,556
Ensembl chr16:1,434,383...1,444,556 		JBrowse link
G MIR6753 microRNA 6753 IAGP ClinVar Annotator: match by term: Autosomal recessive osteopetrosis 1 ClinVar PMID:10888887 PMID:10942435 PMID:11532986 PMID:16199547 PMID:19448635 More... NCBI chr11:68,044,794...68,044,957
Ensembl chr11:68,044,794...68,044,957 		JBrowse link
G PLEKHM1 pleckstrin homology and RUN domain containing M1 IAGP ClinVar Annotator: match by term: Autosomal recessive osteopetrosis 1 ClinVar PMID:35342016 PMID:36195244 NCBI chr17:45,434,209...45,490,721
Ensembl chr17:45,435,900...45,490,758 		JBrowse link
G TCIRG1 T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 IAGP
ISS
EXP		 DNA:deletions, snps:exons:multiple (human)
ClinVar Annotator: match by term: Autosomal recessive osteopetrosis 1
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
ClinVar Annotator: match by term: Autosomal recessive osteopetrosis 1 | ClinVar Annotator: match by term: TCIRG1-related condition
OMIM:259700
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:9506970 PMID:9536098 PMID:10888887 PMID:10942435 PMID:11532986 More... RGD:1599350 NCBI chr11:68,039,025...68,053,762
Ensembl chr11:68,039,025...68,050,895 		JBrowse link
autosomal recessive osteopetrosis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC126861752 BRD4-independent group 4 enhancer GRCh37_chr13:43155073-43156272 IAGP ClinVar Annotator: match by term: Autosomal recessive osteopetrosis 2
ClinVar Annotator: match by term: Autosomal recessive osteopetrosis 2 | ClinVar Annotator: match by term: Osteopetrosis osteoclast-poor		 ClinVar PMID:25741868 PMID:28492532 NCBI chr13:42,580,937...42,582,136 JBrowse link
G LOC126861753 P300/CBP strongly-dependent group 1 enhancer GRCh37_chr13:43174688-43175887 IAGP ClinVar Annotator: match by term: Autosomal recessive osteopetrosis 2
ClinVar Annotator: match by term: Osteopetrosis osteoclast-poor		 ClinVar PMID:17632511 PMID:25741868 PMID:28492532 NCBI chr13:42,600,552...42,601,751 JBrowse link
G LOC130009662 ATAC-STARR-seq lymphoblastoid silent region 5301 IAGP ClinVar Annotator: match by term: Osteopetrosis osteoclast-poor
ClinVar Annotator: match by term: Autosomal recessive osteopetrosis 2 | ClinVar Annotator: match by term: Osteopetrosis osteoclast-poor		 ClinVar PMID:20499338 PMID:21541994 PMID:25741868 PMID:28492532 NCBI chr13:42,574,090...42,574,459 JBrowse link
G TNFSF11 TNF superfamily member 11 IAGP
ISS		 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 chr13:42,562,736...42,608,013
Ensembl chr13:42,562,736...42,608,013 		JBrowse link
autosomal recessive osteopetrosis 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CA2 carbonic anhydrase 2 IAGP
ISS
EXP		 ClinVar Annotator: match by term: Osteopetrosis with renal tubular acidosis
OMIM:259730
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM		 PMID:1301935 PMID:1542674 PMID:1928091 PMID:4624444 PMID:5041390 More... NCBI chr 8:85,464,007...85,481,493
Ensembl chr 8:85,463,968...85,481,493 		JBrowse link
G CA3-AS1 CA3 antisense RNA 1 IAGP ClinVar Annotator: match by term: Osteopetrosis with renal tubular acidosis ClinVar PMID:25741868 NCBI chr 8:85,441,806...85,464,915
Ensembl chr 8:85,440,537...85,469,968 		JBrowse link
autosomal recessive osteopetrosis 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CLCN7 chloride voltage-gated channel 7 IAGP
ISS
EXP		 ClinVar Annotator: match by term: Autosomal recessive osteopetrosis 4
ClinVar Annotator: match by term: Osteopetrosis infantile malignant 2
ClinVar Annotator: match by term: Autosomal recessive osteopetrosis 4 | ClinVar Annotator: match by term: Osteopetrosis infantile malignant 2
OMIM:611490
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM		 PMID:1516225 PMID:11207362 PMID:11468688 PMID:11741829 PMID:14584882 More... NCBI chr16:1,444,935...1,475,028
Ensembl chr16:1,444,934...1,475,077 		JBrowse link
G LOC130058166 ATAC-STARR-seq lymphoblastoid silent region 6986 IAGP ClinVar Annotator: match by term: Autosomal recessive osteopetrosis 4 ClinVar PMID:25741868 PMID:28492532 NCBI chr16:1,474,771...1,474,980 JBrowse link
autosomal recessive osteopetrosis 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC129996933 ATAC-STARR-seq lymphoblastoid silent region 17446 IAGP ClinVar Annotator: match by term: Autosomal recessive osteopetrosis 5
ClinVar Annotator: match by term: Autosomal recessive osteopetrosis 5 | ClinVar Annotator: match by term: Osteopetrosis infantile malignant 3		 ClinVar PMID:16813530 PMID:28492532 NCBI chr 6:108,074,512...108,074,951 JBrowse link
G OSTM1 osteoclastogenesis associated transmembrane protein 1 IAGP
ISS
EXP		 ClinVar Annotator: match by term: Autosomal recessive osteopetrosis 5
ClinVar Annotator: match by term: Autosomal recessive osteopetrosis 5 | ClinVar Annotator: match by term: Osteopetrosis infantile malignant 3
OMIM:259720
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM		 PMID:12627228 PMID:16813530 PMID:25741868 PMID:28492532 PMID:28612835 More... NCBI chr 6:108,041,409...108,074,741
Ensembl chr 6:108,029,245...108,165,854 		JBrowse link
autosomal recessive osteopetrosis 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PLEKHM1 pleckstrin homology and RUN domain containing M1 IAGP
ISS
EXP		 ClinVar Annotator: match by term: Autosomal recessive osteopetrosis 6
OMIM:611497
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM		 PMID:17404618 PMID:25741868 NCBI chr17:45,434,209...45,490,721
Ensembl chr17:45,435,900...45,490,758 		JBrowse link
autosomal recessive osteopetrosis 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC130062628 ATAC-STARR-seq lymphoblastoid silent region 9505 IAGP ClinVar Annotator: match by term: Autosomal recessive osteopetrosis 7
ClinVar Annotator: match by term: Autosomal recessive osteoclast-poor osteopetrosis with hypogammaglobulinemia | ClinVar Annotator: match by term: Autosomal recessive osteopetrosis 7		 ClinVar PMID:25741868 PMID:28492532 NCBI chr18:62,325,202...62,325,401 JBrowse link
G TNFRSF11A TNF receptor superfamily member 11a IAGP
EXP		 ClinVar Annotator: match by term: Autosomal recessive osteopetrosis 7
ClinVar Annotator: match by term: Autosomal recessive osteoclast-poor osteopetrosis with hypogammaglobulinemia | ClinVar Annotator: match by term: Autosomal recessive osteopetrosis 7
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:9536098 PMID:15231021 PMID:17576681 PMID:18606301 PMID:19940926 More... NCBI chr18:62,325,310...62,391,288
Ensembl chr18:62,325,287...62,391,288 		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 IAGP
ISS		 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 7:26,291,862...26,374,383
Ensembl chr 7:26,291,862...26,374,383 		JBrowse link
Autosomal Recessive Osteopetrosis 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLC4A2 solute carrier family 4 member 2 IAGP ClinVar Annotator: match by term: Osteopetrosis, autosomal recessive 9 OMIM
ClinVar		 PMID:25741868 PMID:34668226 NCBI chr 7:151,058,200...151,076,527
Ensembl chr 7:151,057,210...151,076,526 		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 IAGP ClinVar Annotator: match by term: Autosomal recessive spondyloepiphyseal dysplasia tarda ClinVar PMID:10471507 PMID:22791401 PMID:25741868 PMID:28492532 PMID:29258992 NCBI chr 6:112,052,813...112,069,686
Ensembl chr 6:112,054,075...112,069,686 		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 IAGP ClinVar Annotator: match by term: Axial spondylometaphyseal dysplasia
ClinVar Annotator: match by term: Axial SMD		 ClinVar
OMIM		 PMID:11702989 PMID:20503334 PMID:21910225 PMID:23105016 PMID:25741868 More... NCBI chr21:44,328,944...44,339,390
Ensembl chr21:44,328,944...44,339,402 		JBrowse link
G LOC130066823 ATAC-STARR-seq lymphoblastoid silent region 13383 IAGP ClinVar Annotator: match by term: Axial spondylometaphyseal dysplasia ClinVar PMID:25741868 NCBI chr21:44,338,979...44,339,348 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 IAGP ClinVar Annotator: match by term: Type IV short rib polydactyly syndrome ClinVar PMID:25741868 PMID:26826164 PMID:28492532 PMID:29068549 NCBI chr11:103,109,426...103,479,863
Ensembl chr11:103,109,410...103,479,863 		JBrowse link
G EVC2 EvC ciliary complex subunit 2 IAGP 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 4:5,529,011...5,709,548
Ensembl chr 4:5,542,772...5,709,548 		JBrowse link
G IFT80 intraflagellar transport 80 IAGP ClinVar Annotator: match by term: Type IV short rib polydactyly syndrome ClinVar PMID:28492532 PMID:29068549 NCBI chr 3:160,256,986...160,399,225
Ensembl chr 3:160,256,986...160,399,880 		JBrowse link
G NEK1 NIMA related kinase 1 IAGP ClinVar Annotator: match by term: Type IV short rib polydactyly syndrome ClinVar PMID:25741868 PMID:29068549 NCBI chr 4:169,392,809...169,612,583
Ensembl chr 4:169,369,704...169,612,632 		JBrowse link
G TRIM59-IFT80 TRIM59-IFT80 readthrough (NMD candidate) IAGP ClinVar Annotator: match by term: Type IV short rib polydactyly syndrome ClinVar PMID:28492532 PMID:29068549 NCBI chr 3:160,227,454...160,485,747
Ensembl chr 3:160,227,454...160,449,829 		JBrowse link
G TTC21B tetratricopeptide repeat domain 21B IAGP 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 2:165,873,362...165,953,776
Ensembl chr 2:165,857,475...165,953,851 		JBrowse link
G WDR19 WD repeat domain 19 IAGP