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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:Dwarfism
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Accession:DOID:9007661 term browser browse the term
Definition:A genetic or pathological condition that is characterized by short stature and undersize. Abnormal skeletal growth usually results in an adult who is significantly below the average height.
Synonyms:exact_synonym: Nanism;   short stature
 narrow_synonym: SD2;   Skeletal dysplasia 2
 primary_id: MESH:D004392
 alt_id: OMIA:001772;   RDO:0000307
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
Dwarfism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcg4 ATP binding cassette subfamily G member 4 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:48,604,915...48,626,219
Ensembl chr 8:48,606,403...48,619,592
JBrowse link
G Acan aggrecan ISO
IEP
ClinVar Annotator: match by term: Short stature
protein:decreased expression:cartilage
protein:altered localization:cartilage
mRNA:decreased expression:costal cartilage
DNA:frameshift mutation, missense mutation, splice-site mutation:exon:c.272delA, c.2026+1G>A, c.7064T>C (p.L2355P) (human)
DNA:frameshift mutation:exon:c.5391delG (human)
ClinVar PMID:9192671, PMID:9988279, PMID:25736479, PMID:18678883, PMID:24762113, PMID:25741789 RGD:1300269, RGD:734826, RGD:11570533, RGD:11570531, RGD:11570526, RGD:11061419 NCBI chr 1:140,762,758...140,824,441
Ensembl chr 1:140,762,758...140,824,441
JBrowse link
G Acrv1 acrosomal vesicle protein 1 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:39,164,991...39,170,568
Ensembl chr 8:39,164,916...39,170,736
JBrowse link
G Actb actin, beta ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:25741868 NCBI chr12:13,715,843...13,718,813
Ensembl chr12:13,715,843...13,718,841
JBrowse link
G Adamts15 ADAM metallopeptidase with thrombospondin type 1 motif, 15 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:31,977,001...32,000,378
Ensembl chr 8:31,977,001...32,000,378
JBrowse link
G Adamts8 ADAM metallopeptidase with thrombospondin type 1 motif, 8 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:32,017,684...32,037,529
Ensembl chr 8:32,018,560...32,037,531
JBrowse link
G Adgrb3 adhesion G protein-coupled receptor B3 ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chr 9:31,280,623...32,022,535
Ensembl chr 9:31,281,316...32,019,205
JBrowse link
G Aff2 AF4/FMR2 family, member 2 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:25741868 NCBI chr  X:153,539,951...154,051,022
Ensembl chr  X:153,539,668...154,051,181
JBrowse link
G Alg12 ALG12, alpha-1,6-mannosyltransferase ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chr 7:129,798,663...129,812,677
Ensembl chr 7:129,798,663...129,812,388
JBrowse link
G Ammecr1 AMMECR nuclear protein 1 ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chr  X:114,129,829...114,233,013
Ensembl chr  X:114,131,898...114,232,939
JBrowse link
G Angpt2 angiopoietin 2 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:25741868 PMID:26467025 NCBI chr16:75,966,480...76,016,147
Ensembl chr16:75,966,352...76,016,195
JBrowse link
G Anks3 ankyrin repeat and sterile alpha motif domain containing 3 ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chr10:10,808,780...10,829,507
Ensembl chr10:10,808,823...10,831,535
JBrowse link
G Aplp2 amyloid beta precursor like protein 2 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:32,298,526...32,328,821
Ensembl chr 8:32,298,532...32,328,839
JBrowse link
G Apoa1 apolipoprotein A1 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:50,525,091...50,526,875
Ensembl chr 8:50,525,091...50,526,875
JBrowse link
G Apoa4 apolipoprotein A4 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:50,536,983...50,539,371
Ensembl chr 8:50,537,009...50,539,376
JBrowse link
G Apoa5 apolipoprotein A5 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:50,559,079...50,561,720
Ensembl chr 8:50,559,126...50,561,736
JBrowse link
G Apoc3 apolipoprotein C3 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:50,529,318...50,531,498
Ensembl chr 8:50,529,318...50,531,498
JBrowse link
G Arcn1 archain 1 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:49,051,257...49,075,861
Ensembl chr 8:49,051,246...49,075,892
JBrowse link
G Arhgap32 Rho GTPase activating protein 32 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:33,131,874...33,392,198
Ensembl chr 8:33,239,139...33,392,305
JBrowse link
G Arhgef12 Rho guanine nucleotide exchange factor 12 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:47,259,377...47,393,042
Ensembl chr 8:47,259,404...47,393,503
JBrowse link
G Atp5mg ATP synthase membrane subunit g ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:49,220,441...49,227,273
Ensembl chr 8:49,220,443...49,227,273
JBrowse link
G Atrx ATRX, chromatin remodeler ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:25741868 NCBI chr  X:76,820,110...76,979,155
Ensembl chr  X:76,692,970...76,708,878
Ensembl chr  X:76,692,970...76,708,878
JBrowse link
G Bace1 beta-secretase 1 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:50,140,092...50,162,388
Ensembl chr 8:50,139,997...50,162,361
JBrowse link
G Barx2 BARX homeobox 2 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:32,950,878...33,018,245
Ensembl chr 8:32,950,875...33,017,854
JBrowse link
G Bcl9l BCL9 like ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:48,805,684...48,835,794
Ensembl chr 8:48,805,684...48,834,312
JBrowse link
G Brd4 bromodomain containing 4 ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chr 7:14,222,101...14,303,055
Ensembl chr 7:14,222,101...14,303,055
JBrowse link
G Bsx brain specific homeobox ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:45,061,670...45,065,430
Ensembl chr 8:45,061,670...45,065,430
JBrowse link
G Bud13 BUD13 homolog ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:50,573,026...50,588,860
Ensembl chr 8:50,573,026...50,588,858
JBrowse link
G C1qtnf5 C1q and TNF related 5 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:48,443,515...48,445,639
Ensembl chr 8:48,443,767...48,445,637
JBrowse link
G C2cd2l C2CD2-like ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:48,641,792...48,652,119
Ensembl chr 8:48,641,801...48,652,071
JBrowse link
G Cadm1 cell adhesion molecule 1 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:51,858,906...52,200,591
Ensembl chr 8:52,127,399...52,189,722
JBrowse link
G Cant1 calcium activated nucleotidase 1 ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chr10:107,432,500...107,445,634
Ensembl chr10:107,432,506...107,445,522
JBrowse link
G Cbl Cbl proto-oncogene ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:48,481,256...48,564,775
Ensembl chr 8:48,489,036...48,564,722
JBrowse link
G Ccdc120 coiled-coil domain containing 120 ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chr  X:15,610,230...15,616,727
Ensembl chr  X:15,598,652...15,617,665
JBrowse link
G Ccdc15 coiled-coil domain containing 15 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:39,759,077...39,830,235
Ensembl chr 8:39,762,035...39,830,306
JBrowse link
G Ccdc153 coiled-coil domain containing 153 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:48,570,718...48,577,856
Ensembl chr 8:48,569,328...48,577,855
JBrowse link
G Ccn2 cellular communication network factor 2 ISO RGD PMID:11237711 RGD:734846 NCBI chr 1:21,851,657...21,854,773
Ensembl chr 1:21,851,660...21,854,773
JBrowse link
G Cd3d CD3d molecule ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:49,282,502...49,287,095
Ensembl chr 8:49,282,460...49,287,110
JBrowse link
G Cd3e CD3e molecule ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:49,297,604...49,309,370
Ensembl chr 8:49,297,608...49,308,806
JBrowse link
G Cd3g CD3g molecule ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:49,274,553...49,280,943
Ensembl chr 8:49,274,960...49,280,901
JBrowse link
G Cdon cell adhesion associated, oncogene regulated ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:36,625,757...36,712,091
Ensembl chr 8:36,625,733...36,710,949
JBrowse link
G Cenatac centrosomal AT-AC splicing factor ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:48,729,695...48,736,574
Ensembl chr 8:48,729,835...48,736,506
JBrowse link
G Cep164 centrosomal protein 164 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:50,069,282...50,132,477
Ensembl chr 8:50,070,579...50,126,413
JBrowse link
G Cep76 centrosomal protein 76 ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chr18:63,364,990...63,394,766
Ensembl chr18:63,359,832...63,394,766
JBrowse link
G Chd1l chromodomain helicase DNA binding protein 1-like ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chr 2:199,714,044...199,792,270
Ensembl chr 2:199,716,713...199,771,896
JBrowse link
G Chek1 checkpoint kinase 1 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:39,181,162...39,201,588
Ensembl chr 8:39,181,163...39,243,882
JBrowse link
G Clasp1 cytoplasmic linker associated protein 1 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:21474760 PMID:22581640 PMID:23794361 PMID:26522830 PMID:27040866 PMID:29263834 PMID:29391254 PMID:32581362 NCBI chr13:34,365,038...34,584,651
Ensembl chr13:34,365,147...34,584,651
JBrowse link
G Clgn calmegin ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chr19:24,545,257...24,578,527
Ensembl chr19:24,545,318...24,576,798
JBrowse link
G Clic4 chloride intracellular channel 4 ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chr 5:153,568,937...153,625,669
Ensembl chr 5:153,568,745...153,625,869
JBrowse link
G Clip1 CAP-GLY domain containing linker protein 1 ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chr12:38,345,203...38,452,650
Ensembl chr12:38,345,456...38,452,652
JBrowse link
G Clmp CXADR-like membrane protein ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:44,846,685...44,975,460
Ensembl chr 8:44,847,157...44,975,457
JBrowse link
G Col11a2 collagen type XI alpha 2 chain ISO Skeletal dysplasia 2 (SD2) OMIA PMID:23527306 NCBI chr20:3,829,324...3,859,022
Ensembl chr20:3,830,164...3,859,018
JBrowse link
G Col2a1 collagen type II alpha 1 chain ISO DNA:deletion:cds:p.KT206,207N(mouse)
ClinVar Annotator: match by term: Short stature
ClinVar PMID:25741868, PMID:18678883 RGD:11570531 NCBI chr 7:139,454,945...139,484,403
Ensembl chr 7:139,455,242...139,483,997
JBrowse link
G Col7a1 collagen type VII alpha 1 chain ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:8037207 PMID:9881948 PMID:12787275 PMID:16971478 PMID:19681861 PMID:22266148 PMID:25741868 PMID:26076072 PMID:26148662 PMID:28492532 PMID:28830826 PMID:32860008 NCBI chr 8:117,694,441...117,726,844
Ensembl chr 8:117,694,605...117,726,844
JBrowse link
G Cpz carboxypeptidase Z ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chr14:80,402,946...80,426,203
Ensembl chr14:80,403,001...80,426,245
JBrowse link
G Crtam cytotoxic and regulatory T cell molecule ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:45,152,584...45,216,082
Ensembl chr 8:45,153,308...45,215,974
JBrowse link
G Cul7 cullin 7 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:25741868 NCBI chr 9:16,629,491...16,643,527
Ensembl chr 9:16,629,401...16,643,182
JBrowse link
G Cxcr5 C-X-C motif chemokine receptor 5 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:48,835,688...48,852,032
Ensembl chr 8:48,836,957...48,850,671
JBrowse link
G Dcps decapping enzyme, scavenger ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:36,321,992...36,374,665
Ensembl chr 8:36,321,993...36,374,673
JBrowse link
G Ddx25 DEAD-box helicase 25 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:36,744,686...36,760,720
Ensembl chr 8:36,744,667...36,760,742
JBrowse link
G Ddx6 DEAD-box helicase 6 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:48,924,768...48,961,394
Ensembl chr 8:48,925,604...48,958,026
JBrowse link
G Dennd4b DENN domain containing 4B ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chr 2:189,626,922...189,642,732
Ensembl chr 2:189,629,297...189,642,183
JBrowse link
G Dhx34 DExH-box helicase 34 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:31256877 NCBI chr 1:78,069,260...78,112,488
Ensembl chr 1:78,090,044...78,112,488
JBrowse link
G Dnah17 dynein, axonemal, heavy chain 17 ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chr10:107,028,115...107,161,288
Ensembl chr10:107,029,466...107,158,997
JBrowse link
G Dnmt3a DNA methyltransferase 3 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:30478443 NCBI chr 6:28,205,375...28,346,052
Ensembl chr 6:28,235,695...28,340,577
JBrowse link
G Donson DNA replication fork stabilization factor DONSON ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Short stature
CTD
ClinVar
PMID:25741868 PMID:28191891 PMID:28492532 NCBI chr11:31,834,608...31,847,751
Ensembl chr11:31,837,839...31,847,490
JBrowse link
G Dpagt1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:48,657,779...48,664,531
Ensembl chr 8:48,657,795...48,664,860
JBrowse link
G Dscaml1 DS cell adhesion molecule-like 1 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:49,733,835...50,056,115
Ensembl chr 8:49,737,798...50,055,560
JBrowse link
G Dvl3 dishevelled segment polarity protein 3 ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chr11:84,051,177...84,068,479
Ensembl chr11:84,051,078...84,068,302
JBrowse link
G Edem3 ER degradation enhancing alpha-mannosidase like protein 3 ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chr13:69,135,095...69,197,708
Ensembl chr13:69,135,128...69,199,511
JBrowse link
G Ei24 EI24, autophagy associated transmembrane protein ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:39,254,883...39,271,238
Ensembl chr 8:39,254,889...39,266,959
JBrowse link
G Ep300 E1A binding protein p300 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:25741868 NCBI chr 7:122,818,194...122,889,055
Ensembl chr 7:122,818,975...122,861,296
JBrowse link
G Esam endothelial cell adhesion molecule ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:39,997,875...40,008,802
Ensembl chr 8:39,997,875...40,008,809
JBrowse link
G Ets1 ETS proto-oncogene 1, transcription factor ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:33,756,634...33,879,625
Ensembl chr 8:33,816,386...33,879,625
JBrowse link
G Fam118b family with sequence similarity 118, member B ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:36,416,769...36,467,609
Ensembl chr 8:36,416,997...36,467,627
JBrowse link
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:21683322 PMID:25741868 PMID:27245183 PMID:28492532 NCBI chr 3:117,569,708...117,766,160
Ensembl chr 3:117,569,697...117,766,120
JBrowse link
G Fbrs fibrosin ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chr 1:198,925,265...198,938,939
Ensembl chr 1:198,932,870...198,937,750
JBrowse link
G Fez1 fasciculation and elongation protein zeta 1 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:39,305,128...39,350,270
Ensembl chr 8:39,305,128...39,350,270
JBrowse link
G Fgf18 fibroblast growth factor 18 ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chr10:18,047,109...18,082,290
Ensembl chr10:18,047,109...18,063,391
JBrowse link
G Fgfr3 fibroblast growth factor receptor 3 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:1908846 PMID:7670477 PMID:7773297 PMID:8589686 PMID:8858131 PMID:9452043 PMID:9672519 PMID:9677066 PMID:10073901 PMID:10360392 PMID:10361991 PMID:10395236 PMID:10471491 PMID:10696568 PMID:10777366 PMID:11055896 PMID:11241532 PMID:11529856 PMID:11754059 PMID:12707965 PMID:12833394 PMID:15772091 PMID:16841094 PMID:16912704 PMID:18198189 PMID:18642369 PMID:22045636 PMID:23149434 PMID:23165795 PMID:24715719 PMID:25157968 PMID:25606676 PMID:25614871 PMID:25741868 PMID:26380986 PMID:26619011 PMID:28492532, PMID:25456072 RGD:11568033 NCBI chr14:82,272,322...82,287,739
Ensembl chr14:82,273,070...82,287,706
JBrowse link
G Fkbp10 FKBP prolyl isomerase 10 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:20362275 PMID:20839288 PMID:21567934 PMID:25741868 NCBI chr10:88,326,337...88,338,199
Ensembl chr10:88,326,080...88,338,207
JBrowse link
G Fli1 Fli-1 proto-oncogene, ETS transcription factor ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:33,541,932...33,661,111
Ensembl chr 8:33,543,258...33,661,049
JBrowse link
G Flna filamin A ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:12612583 PMID:15917206 PMID:25741868 NCBI chr  X:156,460,785...156,487,245
Ensembl chr  X:156,463,953...156,487,245
JBrowse link
G Foxr1 forkhead box R1 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:48,754,300...48,762,765
Ensembl chr 8:48,754,736...48,762,342
JBrowse link
G Foxred1 FAD-dependent oxidoreductase domain containing 1 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:36,401,317...36,410,589
Ensembl chr 8:36,403,493...36,410,612
JBrowse link
G Fxyd2 FXYD domain-containing ion transport regulator 2 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:49,710,334...49,717,492
Ensembl chr 8:49,710,477...49,716,955
JBrowse link
G Fxyd6 FXYD domain-containing ion transport regulator 6 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:49,676,520...49,703,419
Ensembl chr 8:49,676,540...49,703,419
JBrowse link
G Fzd2 frizzled class receptor 2 ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chr10:90,550,147...90,552,057
Ensembl chr10:90,550,147...90,552,057
JBrowse link
G G6pc1 glucose-6-phosphatase catalytic subunit 1 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:2172641 PMID:7573034 PMID:7623438 PMID:7744838 PMID:7814621 PMID:8182131 PMID:8211187 PMID:8734807 PMID:9332655 PMID:10612834 PMID:10834516 PMID:10874313 PMID:11310582 PMID:11739393 PMID:12093795 PMID:12373566 PMID:15316959 PMID:18008183 PMID:20301489 PMID:21599942 PMID:23312056 PMID:24033266 PMID:24082139 PMID:24385852 PMID:25308557 PMID:25333069 PMID:25741868 PMID:28397058 PMID:28492532 PMID:32313153 NCBI chr10:89,286,009...89,296,213
Ensembl chr10:89,285,855...89,296,213
JBrowse link
G Gabre gamma-aminobutyric acid type A receptor subunit epsilon ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chr  X:152,220,180...152,237,347
Ensembl chr  X:152,218,707...152,237,361
JBrowse link
G Gh1 growth hormone 1 ISO
IAGP
IEP
DNA:mutations:promoter:c.-223C>T( rs41295015), c.-185T>C(rs71651677)(human)
mRNA,protein:decreased expression:pituitary gland, blood:
RGD PMID:27252485, PMID:2752987, PMID:2152867, PMID:8670892, PMID:8670892 RGD:12904666, RGD:1578505, RGD:1578506, RGD:12905039, RGD:12905039 NCBI chr10:94,486,204...94,488,181
Ensembl chr10:94,486,205...94,488,180
JBrowse link
G Gh1sdr IAGP RGD PMID:2152867, PMID:2752987 RGD:1578506, RGD:1578505
G Ghr growth hormone receptor treatment ISO protein:increased expression:CD20 positive lymphocyte:
DNA:missense mutation:exon:p.V144I(human)
DNA:deletion:exon:
RGD PMID:9373455, PMID:9814495, PMID:22026923 RGD:11565837, RGD:11566044, RGD:11566042 NCBI chr 2:53,149,225...53,413,954
Ensembl chr 2:53,150,370...53,413,638
JBrowse link
G Ghrl ghrelin and obestatin prepropeptide ISO protein:increased expression:serum: RGD PMID:20861603 RGD:12904881 NCBI chr 4:145,674,157...145,678,066
Ensembl chr 4:145,674,157...145,678,066
JBrowse link
G Ghsr growth hormone secretagogue receptor ISO DNA:mutations: : RGD PMID:21084395, PMID:7968381 RGD:12904884, RGD:12910126 NCBI chr 2:113,065,953...113,071,265
Ensembl chr 2:113,066,885...113,070,261
JBrowse link
G Gramd1b GRAM domain containing 1B ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:44,160,634...44,399,110
Ensembl chr 8:44,165,367...44,327,551
JBrowse link
G Greb1l GREB1 like retinoic acid receptor coactivator ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chr18:1,537,315...1,784,260
Ensembl chr18:1,723,565...1,784,233
JBrowse link
G Grik4 glutamate ionotropic receptor kainate type subunit 4 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:46,804,134...47,237,546
Ensembl chr 8:46,806,147...47,094,352
JBrowse link
G H2ap H2A.P histone ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chr  X:13,989,401...13,989,955
Ensembl chr  X:13,989,401...13,989,955
JBrowse link
G H2ax H2A.X variant histone ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:48,665,652...48,666,981
Ensembl chr 8:48,665,652...48,666,981
JBrowse link
G Hapln1 hyaluronan and proteoglycan link protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9988279, PMID:9988279 RGD:734826 NCBI chr 2:18,354,542...18,419,077
Ensembl chr 2:18,354,542...18,419,071
JBrowse link
G Hepacam hepatic and glial cell adhesion molecule ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:39,848,264...39,866,969
Ensembl chr 8:39,848,448...39,865,130
JBrowse link
G Hinfp histone H4 transcription factor ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:48,626,398...48,638,012
Ensembl chr 8:48,628,340...48,634,797
JBrowse link
G Hkdc1 hexokinase domain containing 1 ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chr20:32,018,027...32,054,494 JBrowse link
G Hmbs hydroxymethylbilane synthase ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:48,667,278...48,674,673
Ensembl chr 8:48,667,275...48,674,748
JBrowse link
G Hook3 hook microtubule-tethering protein 3 ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chr16:70,710,347...70,818,789 JBrowse link
G Hspa8 heat shock protein family A (Hsp70) member 8 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:44,989,401...44,993,261
Ensembl chr 8:44,990,014...44,993,179
JBrowse link
G Hyls1 HYLS1, centriolar and ciliogenesis associated ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:36,763,470...36,772,199
Ensembl chr 8:36,763,481...36,764,422
JBrowse link
G Hyou1 hypoxia up-regulated 1 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:48,699,796...48,711,912
Ensembl chr 8:48,699,769...48,711,910
JBrowse link
G Ift46 intraflagellar transport 46 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:49,075,978...49,097,689
Ensembl chr 8:49,077,053...49,097,686
JBrowse link
G Ift81 intraflagellar transport 81 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:28492532 NCBI chr12:39,420,161...39,507,412
Ensembl chr12:39,423,596...39,506,890
JBrowse link
G Igf1 insulin-like growth factor 1 ISO
IEP
DNA:nonsense mutation,haploinsufficiency :cds:
protein:decreased expression:plasma (rat)
RGD PMID:20668042, PMID:20102388 RGD:8548823, RGD:12904931 NCBI chr 7:28,412,123...28,491,815
Ensembl chr 7:28,412,198...28,486,609
JBrowse link
G Igfbp3 insulin-like growth factor binding protein 3 ISO associated with Anemia, Sickle Cell; RGD PMID:17396438 RGD:12743603 NCBI chr14:87,457,647...87,465,374
Ensembl chr14:87,457,647...87,465,374
JBrowse link
G Il10ra interleukin 10 receptor subunit alpha ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:49,558,062...49,573,891
Ensembl chr 8:49,560,035...49,573,742
JBrowse link
G Itih6 inter-alpha-trypsin inhibitor heavy chain family, member 6 ISO ClinVar Annotator: match by term: Short stature ClinVar
G Jaml junction adhesion molecule like ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:49,378,644...49,408,894
Ensembl chr 8:49,378,644...49,410,088
JBrowse link
G Jhy junctional cadherin complex regulator ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:45,084,067...45,140,570
Ensembl chr 8:45,084,320...45,137,893
JBrowse link
G Kcnd1 potassium voltage-gated channel subfamily D member 1 ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chr  X:15,506,724...15,520,712
Ensembl chr  X:15,506,724...15,520,712
JBrowse link
G Kcnj1 potassium inwardly-rectifying channel, subfamily J, member 1 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:33,490,280...33,519,127
Ensembl chr 8:33,514,042...33,518,165
JBrowse link
G Kcnj5 potassium inwardly-rectifying channel, subfamily J, member 5 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:33,435,493...33,463,410
Ensembl chr 8:33,433,905...33,463,467
JBrowse link
G Kirrel3 kirre like nephrin family adhesion molecule 3 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:35,692,525...36,254,755
Ensembl chr 8:36,125,999...36,254,753
JBrowse link
G Kmt2a lysine methyltransferase 2A ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:49,110,407...49,185,872
Ensembl chr 8:49,114,990...49,158,971
JBrowse link
G Lama5 laminin subunit alpha 5 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:28492532 NCBI chr 3:175,553,042...175,601,112
Ensembl chr 3:175,553,045...175,601,127
JBrowse link
G Lemd2 LEM domain nuclear envelope protein 2 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:25741868 PMID:30905398 NCBI chr20:5,779,742...5,786,213
Ensembl chr20:6,545,083...6,556,350
JBrowse link
G LOC103689958 olfactory receptor 49-like ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 1:64,486,157...64,487,250
Ensembl chr 1:64,486,251...64,487,225
JBrowse link
G Lonp1 lon peptidase 1, mitochondrial ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:28492532 NCBI chr 9:10,428,853...10,441,180
Ensembl chr 9:10,428,853...10,441,177
JBrowse link
G Lztr1 leucine-zipper-like transcription regulator 1 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:24362817 PMID:25335493 PMID:25480913 PMID:25741868 PMID:28492532 PMID:29384852 PMID:29409008 PMID:29469822 PMID:30442762 PMID:30859559 PMID:31182298 NCBI chr11:87,381,638...87,397,849
Ensembl chr11:87,381,899...87,397,498
JBrowse link
G Macf1 microtubule-actin crosslinking factor 1 ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chr 5:141,039,455...141,363,524
Ensembl chr 5:141,039,468...141,363,524
JBrowse link
G Mapk1 mitogen activated protein kinase 1 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:25741868 PMID:32721402 NCBI chr11:88,203,863...88,273,301
Ensembl chr11:88,211,599...88,273,254
JBrowse link
G Mcam melanoma cell adhesion molecule ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:48,472,824...48,481,005
Ensembl chr 8:48,472,824...48,481,001
JBrowse link
G Mcph1 microcephalin 1 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:25741868 PMID:26467025 NCBI chr16:75,904,087...76,110,624
Ensembl chr16:75,904,006...76,110,553
JBrowse link
G Med24 mediator complex subunit 24 ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chr10:86,620,166...86,658,014
Ensembl chr10:86,620,160...86,645,529
JBrowse link
G Mfn2 mitofusin 2 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:15064763 PMID:16437557 PMID:16714318 PMID:16835246 PMID:17296794 PMID:19889647 PMID:21285398 PMID:22442078 PMID:24126688 PMID:24604904 PMID:24862862 PMID:24863639 PMID:25025039 PMID:25741868 PMID:26085578 PMID:26382835 PMID:26467025 PMID:26686600 PMID:26801520 PMID:27549087 PMID:27863451 PMID:28492532 PMID:31188717 NCBI chr 5:164,684,244...164,715,414
Ensembl chr 5:164,684,509...164,714,145
JBrowse link
G Mfrp membrane frizzled-related protein ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:48,437,720...48,443,421
Ensembl chr 8:48,437,918...48,443,421
JBrowse link
G Mir100 microRNA 100 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:45,746,948...45,747,027
Ensembl chr 8:45,746,948...45,747,027
JBrowse link
G Mir125b1 microRNA 125b-1 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:45,798,260...45,798,346
Ensembl chr 8:45,798,260...45,798,346
JBrowse link
G Mpzl2 myelin protein zero-like 2 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:49,342,067...49,353,080
Ensembl chr 8:49,342,067...49,353,080
JBrowse link
G Mpzl3 myelin protein zero-like 3 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:49,354,257...49,374,444
Ensembl chr 8:49,354,115...49,376,687
JBrowse link
G Msantd2 Myb/SANT DNA binding domain containing 2 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:39,959,162...39,994,279
Ensembl chr 8:39,960,542...39,993,630
JBrowse link
G Mta3 metastasis associated 1 family, member 3 ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chr 6:6,904,449...7,036,929
Ensembl chr 6:6,908,684...7,031,828
JBrowse link
G Mtfmt mitochondrial methionyl-tRNA formyltransferase ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:21907147 PMID:22499348 PMID:23499752 PMID:24088041 PMID:24123792 PMID:24461907 PMID:25058219 PMID:25288793 PMID:25741868 PMID:25911677 PMID:26060307 PMID:26633545 PMID:27290639 PMID:28058511 PMID:28492532 NCBI chr 8:70,952,209...70,986,393
Ensembl chr 8:70,952,203...70,986,408
JBrowse link
G Myh7b myosin heavy chain 7B ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chr 3:151,105,038...151,150,621
Ensembl chr 3:151,126,591...151,150,344
JBrowse link
G Myh8 myosin heavy chain 8 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:25741868 NCBI chr10:53,818,818...53,848,490
Ensembl chr10:53,818,818...53,918,524
JBrowse link
G N4bp2l2 NEDD4 binding protein 2-like 2 ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chr12:627,128...650,604
Ensembl chr12:628,488...650,376
JBrowse link
G Nectin1 nectin cell adhesion molecule 1 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:48,094,233...48,198,499
Ensembl chr 8:48,094,673...48,157,305
JBrowse link
G Nfrkb nuclear factor related to kappa B binding protein ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:32,530,412...32,561,955
Ensembl chr 8:32,530,412...32,561,955
JBrowse link
G Nlrx1 NLR family member X1 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:48,583,559...48,600,203
Ensembl chr 8:48,584,071...48,597,867
JBrowse link
G Nrgn neurogranin ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:40,015,049...40,023,193
Ensembl chr 8:40,015,049...40,023,193
JBrowse link
G Nrxn3 neurexin 3 ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chr 6:112,133,204...114,069,589
Ensembl chr 6:112,133,204...114,067,564
JBrowse link
G Nuf2 NUF2 component of NDC80 kinetochore complex ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:25741868 NCBI chr13:87,818,456...87,847,223
Ensembl chr13:87,818,391...87,847,263
JBrowse link
G Nxpe2 neurexophilin and PC-esterase domain family, member 2 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:60,333,201...60,359,944
Ensembl chr 8:60,334,597...60,359,440
JBrowse link
G Nxpe4 neurexophilin and PC-esterase domain family member 4 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:52,717,341...52,734,448 JBrowse link
G Oaf out at first homolog ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:47,511,718...47,529,689
Ensembl chr 8:47,511,719...47,529,689
JBrowse link
G Obscn obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chr10:45,353,185...45,483,570
Ensembl chr10:45,338,009...45,481,008
JBrowse link
G Obsl1 obscurin like cytoskeletal adaptor 1 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:19481195 PMID:25741868 NCBI chr 9:82,673,871...82,699,577
Ensembl chr 9:82,680,384...82,699,551
JBrowse link
G Olr1194 olfactory receptor 1194 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:40,191,902...40,192,831
Ensembl chr 8:40,191,902...40,192,831
JBrowse link
G Olr1196 olfactory receptor 1196 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:40,258,985...40,259,917
Ensembl chr 8:40,258,985...40,259,917
JBrowse link
G Olr1201 olfactory receptor 1201 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:40,383,997...40,384,929
Ensembl chr 8:40,383,918...40,384,966
JBrowse link
G Olr1202 olfactory receptor 1202 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:40,410,700...40,414,063
Ensembl chr 8:40,410,604...40,411,648
JBrowse link
G Olr1235 olfactory receptor 1235 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 4:1,470,716...1,471,657
Ensembl chr 4:1,470,716...1,471,657
JBrowse link
G Olr1271 olfactory receptor 1271 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:42,776,302...42,780,782
Ensembl chr 8:42,779,545...42,780,474
JBrowse link
G Olr1274 olfactory receptor 1274 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:43,043,094...43,044,026
Ensembl chr 8:43,043,094...43,044,026
Ensembl chr 2:43,043,094...43,044,026
JBrowse link
G Olr1302 olfactory receptor 1302 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:43,191,966...43,192,910
Ensembl chr 8:43,191,966...43,192,910
JBrowse link
G Olr1334 olfactory receptor 1334 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:43,848,058...43,848,993
Ensembl chr 8:43,848,058...43,848,993
JBrowse link
G Olr1335 olfactory receptor 1335 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:43,853,833...43,854,765
Ensembl chr 8:43,853,833...43,854,765
JBrowse link
G Olr1337 olfactory receptor 1337 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:43,872,728...43,873,681
Ensembl chr 8:43,872,728...43,873,681
JBrowse link
G Olr1339 olfactory receptor 1339 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:43,919,476...43,920,420
Ensembl chr 8:43,919,476...43,920,420
JBrowse link
G Olr1340 olfactory receptor 1340 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:43,969,459...43,970,400
Ensembl chr 8:43,969,459...43,970,394
JBrowse link
G Olr1341 olfactory receptor 1341 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:44,043,045...44,043,983
Ensembl chr 8:44,043,045...44,043,983
JBrowse link
G Orc1 origin recognition complex, subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21358633 NCBI chr 5:128,186,651...128,212,901
Ensembl chr 5:128,190,708...128,210,445
JBrowse link
G Osbp oxysterol binding protein ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chr 1:228,395,237...228,425,366
Ensembl chr 1:228,395,558...228,425,361
JBrowse link
G Pafah1b2 platelet-activating factor acetylhydrolase 1b, catalytic subunit 2 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:50,256,969...50,310,043
Ensembl chr 8:50,259,248...50,277,797
JBrowse link
G Panx3 pannexin 3 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:40,126,379...40,137,390
Ensembl chr 8:40,126,342...40,137,390
JBrowse link
G Pate1 prostate and testis expressed 1 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:36,874,700...36,876,931
Ensembl chr 8:36,874,700...36,876,931
JBrowse link
G Pate2 prostate and testis expressed 2 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:36,772,362...36,879,228
Ensembl chr 8:36,850,324...36,851,609
JBrowse link
G Pate3 prostate and testis expressed 3 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:36,840,359...36,842,370
Ensembl chr 8:36,840,359...36,842,370
JBrowse link
G Pate4 prostate and testis expressed 4 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:36,815,007...36,817,747
Ensembl chr 8:36,815,007...36,817,747
JBrowse link
G Pcsk1 proprotein convertase subtilisin/kexin type 1 ISO RGD PMID:12145326 RGD:737721 NCBI chr 2:91,450,162...91,497,091
Ensembl chr 2:91,450,162...91,497,091
JBrowse link
G Pcsk7 proprotein convertase subtilisin/kexin type 7 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:50,200,069...50,222,655
Ensembl chr 8:50,200,069...50,222,630
JBrowse link
G Pdzd3 PDZ domain containing 3 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:48,577,905...48,582,353
Ensembl chr 8:48,577,952...48,582,353
JBrowse link
G Pdzrn3 PDZ domain containing RING finger 3 ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chr 4:133,717,139...133,951,282
Ensembl chr 4:133,717,139...133,951,264
JBrowse link
G Phf20 PHD finger protein 20 ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chr 3:152,273,269...152,379,742
Ensembl chr 3:152,294,656...152,377,170
JBrowse link
G Phldb1 pleckstrin homology-like domain, family B, member 1 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:48,997,189...49,045,176
Ensembl chr 8:48,997,184...49,045,154
JBrowse link
G Pik3c2a phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:31034465 NCBI chr 1:185,210,922...185,326,314
Ensembl chr 1:185,210,922...185,326,314
JBrowse link
G Pknox2 PBX/knotted 1 homeobox 2 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:39,361,698...39,551,700
Ensembl chr 8:39,361,218...39,551,700
JBrowse link
G Plk4 polo-like kinase 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25344692 NCBI chr 2:127,686,911...127,705,518
Ensembl chr 2:127,686,925...127,705,518
JBrowse link
G Plxna3 plexin A3 ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chr  X:156,363,400...156,379,433
Ensembl chr  X:156,363,405...156,379,189
JBrowse link
G Pogz pogo transposable element derived with ZNF domain ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chr 2:195,995,322...196,041,500
Ensembl chr 2:195,996,521...196,041,497
JBrowse link
G Polr2e RNA polymerase II, I and III subunit E ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chr 7:12,532,785...12,536,797
Ensembl chr 7:12,532,895...12,536,791
JBrowse link
G Polr3gl RNA polymerase III subunit GL ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:31089205 NCBI chr 2:198,698,044...198,719,609
Ensembl chr 2:198,702,587...198,719,202
JBrowse link
G Pou2f3 POU class 2 homeobox 3 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:47,412,063...47,495,042
Ensembl chr 8:47,410,220...47,494,982
JBrowse link
G Prdm10 PR/SET domain 10 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:32,419,921...32,526,357
Ensembl chr 8:32,452,885...32,526,351
JBrowse link
G Psmg2 proteasome assembly chaperone 2 ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chr18:63,394,991...63,420,491
Ensembl chr18:63,394,900...63,409,600
JBrowse link
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:11704759 PMID:11992261 PMID:12161469 PMID:12634870 PMID:14644997 PMID:14676626 PMID:15240615 PMID:15273746 PMID:15385933 PMID:15710330 PMID:15928039 PMID:15987685 PMID:16358218 PMID:16377799 PMID:16461457 PMID:16533526 PMID:16990350 PMID:17020470 PMID:17972951 PMID:18331608 PMID:18378677 PMID:18562489 PMID:19008228 PMID:19047918 PMID:19179468 PMID:19251646 PMID:19835954 PMID:20651068 PMID:21365683 PMID:22371576 PMID:22420426 PMID:23321623 PMID:24033266 PMID:24628801 PMID:24718990 PMID:25097206 PMID:25383899 PMID:25395418 PMID:25741868 PMID:26084119 PMID:26242988 PMID:26673822 PMID:27069254 PMID:27276561 PMID:28492532 NCBI chr12:40,895,515...40,955,999
Ensembl chr12:40,895,515...40,955,999
JBrowse link
G Ptpru protein tyrosine phosphatase, receptor type, U ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chr 5:149,922,374...149,996,352
Ensembl chr 5:149,922,352...149,996,334
JBrowse link
G Pus3 pseudouridine synthase 3 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:36,760,874...36,769,167
Ensembl chr 8:36,766,977...36,769,162
JBrowse link
G Pygb glycogen phosphorylase B ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chr 3:146,581,063...146,629,504
Ensembl chr 3:146,582,752...146,634,535
JBrowse link
G Rasa3 RAS p21 protein activator 3 ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chr16:81,320,090...81,434,239
Ensembl chr16:81,318,633...81,434,363
JBrowse link
G Recql RecQ like helicase ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:25741868 NCBI chr 4:176,581,892...176,606,520
Ensembl chr 4:176,581,897...176,606,382
JBrowse link
G Ret ret proto-oncogene ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:2660074 PMID:3078962 PMID:7536460 PMID:7824936 PMID:7845675 PMID:7906417 PMID:7906866 PMID:7911697 PMID:7977365 PMID:8570194 PMID:8595427 PMID:8782503 PMID:8797874 PMID:8880581 PMID:8918855 PMID:9242375 PMID:9620546 PMID:9681850 PMID:9839497 PMID:10369718 PMID:10445857 PMID:10679286 PMID:11351254 PMID:15277225 PMID:15281979 PMID:16715139 PMID:17108110 PMID:17540634 PMID:17848262 PMID:18073307 PMID:18209889 PMID:18252215 PMID:18541894 PMID:19041016 PMID:19169500 PMID:19240193 PMID:19255327 PMID:20065189 PMID:20368568 PMID:20516206 PMID:20847059 PMID:21253810 PMID:21422803 PMID:21455200 PMID:21470995 PMID:21765987 PMID:21810974 PMID:22025146 PMID:22199277 PMID:22233172 PMID:22359510 PMID:22676344 PMID:22992277 PMID:23056499 PMID:23660872 PMID:24336963 PMID:25157968 PMID:25741868 PMID:25810047 PMID:26084817 PMID:26467025 PMID:27539324 PMID:27807060 PMID:28492532 NCBI chr 4:150,202,170...150,249,196
Ensembl chr 4:150,202,058...150,244,372
JBrowse link
G Rnf214 ring finger protein 214 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:50,164,116...50,199,988
Ensembl chr 8:50,166,505...50,199,978
JBrowse link
G Rnf26 ring finger protein 26 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:48,447,113...48,449,311
Ensembl chr 8:48,447,113...48,449,311
JBrowse link
G Rnf31 ring finger protein 31 ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chr15:34,270,037...34,282,385
Ensembl chr15:34,270,648...34,282,495
JBrowse link
G Robo3 roundabout guidance receptor 3 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:39,892,792...39,923,735
Ensembl chr 8:39,892,792...39,907,478
JBrowse link
G Robo4 roundabout guidance receptor 4 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:39,082,693...39,093,344
Ensembl chr 8:39,083,327...39,093,277
JBrowse link
G Ror2 receptor tyrosine kinase-like orphan receptor 2 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:25741868 PMID:28492532 PMID:31680123 NCBI chr17:11,953,552...12,134,386
Ensembl chr17:11,953,552...12,134,386
JBrowse link
G Ros1 ROS proto-oncogene 1 , receptor tyrosine kinase ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chr20:33,100,190...33,323,544
Ensembl chr20:33,100,191...33,323,367
JBrowse link
G Rps25 ribosomal protein s25 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:48,727,346...48,729,722
Ensembl chr 8:48,727,618...48,729,580
JBrowse link
G Rpusd4 RNA pseudouridine synthase D4 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:36,467,706...36,477,190
Ensembl chr 8:36,467,706...36,477,189
JBrowse link
G Runx1t1 RUNX1 partner transcriptional co-repressor 1 ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chr 5:27,284,921...27,440,802
Ensembl chr 5:27,312,928...27,442,841
JBrowse link
G Ryr1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:19191333 PMID:25741868 PMID:28492532 PMID:29293505 NCBI chr 1:87,959,596...88,066,252
Ensembl chr 1:87,959,712...88,066,101
JBrowse link
G Sbds SBDS, ribosome maturation factor ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:12496757 PMID:14749921 PMID:15769891 PMID:15860664 PMID:15942154 PMID:17478638 PMID:19148133 PMID:21695142 PMID:22934832 PMID:22935661 PMID:24033266 PMID:24388329 PMID:24629175 PMID:25525159 PMID:25741868 PMID:26822237 PMID:32581362 NCBI chr12:29,921,443...29,930,602
Ensembl chr12:29,921,443...29,930,600
JBrowse link
G Sc5d sterol-C5-desaturase ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:46,525,406...46,537,014
Ensembl chr 8:46,525,400...46,537,050
JBrowse link
G Scn2b sodium voltage-gated channel beta subunit 2 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:49,419,003...49,431,110
Ensembl chr 8:49,418,965...49,427,689
JBrowse link
G Scn3b sodium voltage-gated channel beta subunit 3 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:44,136,413...44,159,011
Ensembl chr 8:44,136,496...44,159,010
JBrowse link
G Scn4b sodium voltage-gated channel beta subunit 4 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:49,441,106...49,456,279
Ensembl chr 8:49,441,106...49,456,279
JBrowse link
G Scube3 signal peptide, CUB domain and EGF like domain containing 3 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:25741868 PMID:33308444 NCBI chr20:7,718,260...7,749,847
Ensembl chr20:7,718,282...7,746,331
JBrowse link
G Siae sialic acid acetylesterase ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:40,078,269...40,113,514
Ensembl chr 8:40,078,269...40,113,514
JBrowse link
G Sidt2 SID1 transmembrane family, member 2 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:50,230,335...50,246,979
Ensembl chr 8:50,230,339...50,246,656
JBrowse link
G Sik3 SIK family kinase 3 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:50,310,263...50,520,284
Ensembl chr 8:50,310,405...50,520,173
JBrowse link
G Sin3a SIN3 transcription regulator family member A ISO CTD Direct Evidence: marker/mechanism CTD PMID:27399968 NCBI chr 8:61,748,590...61,803,314
Ensembl chr 8:61,762,768...61,803,099
JBrowse link
G Slc37a2 solute carrier family 37 member 2 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:39,708,678...39,735,042
Ensembl chr 8:39,708,638...39,734,594
JBrowse link
G Slc37a4 solute carrier family 37 member 4 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:48,716,914...48,723,024
Ensembl chr 8:48,716,939...48,723,024
JBrowse link
G Slc38a3 solute carrier family 38, member 3 ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chr 8:116,406,258...116,423,752
Ensembl chr 8:116,406,241...116,422,366
JBrowse link
G Slc7a8 solute carrier family 7 member 8 ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chr15:33,369,245...33,428,942
Ensembl chr15:33,369,216...33,428,973
JBrowse link
G Smarca5 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5 ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chr19:30,936,703...30,969,454
Ensembl chr19:30,936,703...30,969,454
JBrowse link
G Snx19 sorting nexin 19 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:31,497,034...31,534,077
Ensembl chr 8:31,497,639...31,534,077
JBrowse link
G Sorl1 sortilin related receptor 1 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:46,228,077...46,287,171 JBrowse link
G Sos1 SOS Ras/Rac guanine nucleotide exchange factor 1 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:17143285 PMID:17586837 PMID:20186801 PMID:21387466 PMID:22494877 PMID:23487764 PMID:24033266 PMID:24458522 PMID:25741868 PMID:28492532 PMID:30784236 NCBI chr 6:3,105,443...3,182,977
Ensembl chr 6:3,104,861...3,182,996
JBrowse link
G Spa17 sperm autoantigenic protein 17 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:40,066,954...40,078,131
Ensembl chr 8:40,067,076...40,078,165
JBrowse link
G Srpra SRP receptor subunit alpha ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:36,410,683...36,416,766
Ensembl chr 8:36,410,683...36,416,296
JBrowse link
G Srpx sushi-repeat-containing protein, X-linked ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chr  X:14,146,618...14,220,756
Ensembl chr  X:14,150,038...14,220,662
JBrowse link
G St14 ST14 transmembrane serine protease matriptase ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:32,240,113...32,280,813
Ensembl chr 8:32,240,133...32,280,869
JBrowse link
G St3gal4 ST3 beta-galactoside alpha-2,3-sialyltransferase 4 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:36,264,741...36,314,811
Ensembl chr 8:36,264,750...36,314,811
JBrowse link
G Stat1 signal transducer and activator of transcription 1 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:22730530 PMID:23534974 PMID:23541320 PMID:23709754 PMID:24239102 PMID:25042743 PMID:25741868 PMID:26604104 PMID:26743090 PMID:27379765 PMID:27577878 PMID:28492532 PMID:28597685 NCBI chr 9:54,287,540...54,327,958
Ensembl chr 9:54,287,541...54,484,533
JBrowse link
G Stt3a STT3 oligosaccharyltransferase complex catalytic subunit A ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:39,204,218...39,243,751
Ensembl chr 8:39,181,163...39,243,882
JBrowse link
G Sytl5 synaptotagmin-like 5 ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chr  X:13,857,669...14,109,592
Ensembl chr  X:14,019,961...14,109,568
JBrowse link
G Tagln transgelin ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:50,222,895...50,228,369
Ensembl chr 8:50,222,896...50,231,357
JBrowse link
G Tbce tubulin folding cofactor E ISO Kenny-Caffey syndrome, OMIM:244460 RGD PMID:12389028 RGD:1599303 NCBI chr17:53,983,126...54,029,028
Ensembl chr17:53,983,182...54,029,027
JBrowse link
G Tbcel tubulin folding cofactor E-like ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:46,691,488...46,750,816
Ensembl chr 8:46,694,561...46,750,898
JBrowse link
G Tbrg1 transforming growth factor beta regulator 1 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:40,114,792...40,122,450
Ensembl chr 8:40,114,792...40,122,450
JBrowse link
G Tecta tectorin alpha ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:46,603,728...46,675,658
Ensembl chr 8:46,603,728...46,675,544
JBrowse link
G Tg thyroglobulin ISO
IAGP
CTD Direct Evidence: marker/mechanism CTD PMID:24582622, PMID:10760744 RGD:13605608 NCBI chr 7:107,467,260...107,652,897
Ensembl chr 7:107,467,260...107,652,899
JBrowse link
G Tgrdw thyroglobulin; rdw mutant IAGP RGD PMID:10760744 RGD:13605608
G Thy1 Thy-1 cell surface antigen ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:48,382,121...48,387,271
Ensembl chr 8:48,382,121...48,386,935
JBrowse link
G Tirap TIR domain containing adaptor protein ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:36,382,029...36,399,625
Ensembl chr 8:36,385,353...36,388,224
JBrowse link
G Tlcd5 TLC domain containing 5 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:47,399,122...47,404,018
Ensembl chr 8:47,396,741...47,404,010
JBrowse link
G Tmem218 transmembrane protein 218 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:39,687,280...39,702,722
Ensembl chr 8:39,687,269...39,702,902
JBrowse link
G Tmem225 transmembrane protein 225 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:44,001,199...44,003,757
Ensembl chr 8:44,001,096...44,004,044
JBrowse link
G Tmem25 transmembrane protein 25 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:49,100,759...49,106,258
Ensembl chr 8:49,100,759...49,106,177
JBrowse link
G Tmem45b transmembrane protein 45b ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:32,563,872...32,609,212
Ensembl chr 8:32,563,874...32,609,212
JBrowse link
G Tmprss13 transmembrane serine protease 13 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:49,621,568...49,650,863
Ensembl chr 8:49,621,568...49,650,860
JBrowse link
G Tmprss4 transmembrane serine protease 4 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:49,469,804...49,503,304
Ensembl chr 8:49,469,503...49,502,647
JBrowse link
G Tp53 tumor protein p53 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:1631137 PMID:1978757 PMID:8099841 PMID:8425176 PMID:8527048 PMID:9242456 PMID:9598730 PMID:9825943 PMID:11051239 PMID:12826609 PMID:16489069 PMID:17417627 PMID:17427234 PMID:17606709 PMID:19378321 PMID:20013323 PMID:20128691 PMID:20522432 PMID:21343334 PMID:22265402 PMID:22713868 PMID:23172776 PMID:23667202 PMID:23950206 PMID:24033266 PMID:24038938 PMID:24573247 PMID:24603336 PMID:24651015 PMID:25157968 PMID:25741868 PMID:25925845 PMID:26467025 PMID:26619011 PMID:26787237 PMID:27374712 PMID:28472496 PMID:28492532 PMID:28724667 PMID:29025599 PMID:31775759 NCBI chr10:56,186,299...56,198,449
Ensembl chr10:56,187,020...56,198,449
JBrowse link
G Tpo thyroid peroxidase ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:25741868 NCBI chr 6:49,020,918...49,089,855
Ensembl chr 6:49,021,044...49,089,855
JBrowse link
G Traip TRAF-interacting protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:26595769 NCBI chr 8:116,730,170...116,750,528
Ensembl chr 8:116,730,641...116,750,709
JBrowse link
G Trappc11 trafficking protein particle complex subunit 11 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:28492532 NCBI chr16:47,874,993...47,920,822
Ensembl chr16:47,874,993...47,920,823
JBrowse link
G Trappc4 trafficking protein particle complex subunit 4 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:48,723,755...48,727,182
Ensembl chr 8:48,723,191...48,727,154
JBrowse link
G Treh trehalase ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:48,983,802...48,998,072
Ensembl chr 8:48,983,802...48,997,191
JBrowse link
G Trim29 tripartite motif-containing 29 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:47,674,321...47,699,065
Ensembl chr 8:47,674,321...47,699,065
JBrowse link
G Trim37 tripartite motif-containing 37 ISO Mulibrey Nanism, OMIM:253250 RGD PMID:10888877 RGD:1599667 NCBI chr10:74,436,165...74,568,636
Ensembl chr10:74,436,208...74,568,493
JBrowse link
G Tstd3 thiosulfate sulfurtransferase like domain containing 3 ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chr 5:35,892,783...35,902,243
Ensembl chr 5:35,892,737...35,902,262
JBrowse link
G Ttc36 tetratricopeptide repeat domain 36 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:49,106,374...49,109,981
Ensembl chr 8:49,106,374...49,109,981
JBrowse link
G Ttn titin ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:23861362 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 3:63,565,160...63,837,815 JBrowse link
G Ubash3b ubiquitin associated and SH3 domain containing, B ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:45,224,053...45,375,450
Ensembl chr 8:45,223,992...45,375,435
JBrowse link
G Ube4a ubiquitination factor E4A ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:49,229,713...49,271,894
Ensembl chr 8:49,229,717...49,271,834
JBrowse link
G Ubr4 ubiquitin protein ligase E3 component n-recognin 4 ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chr 5:157,848,162...157,956,137
Ensembl chr 5:157,848,206...157,956,132
JBrowse link
G Upk2 uroplakin 2 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:48,772,906...48,774,898
Ensembl chr 8:48,772,906...48,774,898
JBrowse link
G Ush2a usherin ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:9624053 PMID:10090909 PMID:10729113 PMID:10909849 PMID:11402400 PMID:12112664 PMID:12525556 PMID:14970843 PMID:15025721 PMID:15325563 PMID:15326663 PMID:17405132 PMID:18641288 PMID:19881469 PMID:20145675 PMID:20301515 PMID:20507924 PMID:22581970 PMID:24033266 PMID:24088041 PMID:24160897 PMID:24607488 PMID:24944099 PMID:25097241 PMID:25404053 PMID:25649381 PMID:25741868 PMID:26633545 PMID:26872967 PMID:28041643 PMID:28492532 PMID:29953849 PMID:30718709 NCBI chr13:106,750,738...107,434,195
Ensembl chr13:106,751,625...107,427,329
JBrowse link
G Usp2 ubiquitin specific peptidase 2 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:48,403,985...48,432,525
Ensembl chr 8:48,406,260...48,430,885
JBrowse link
G Usp24 ubiquitin specific peptidase 24 ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chr 5:125,896,725...126,030,411
Ensembl chr 5:125,896,725...126,030,401
JBrowse link
G Usp45 ubiquitin specific peptidase 45 ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chr 5:35,916,763...35,984,525
Ensembl chr 5:35,916,804...35,984,524
JBrowse link
G Usp51 ubiquitin specific peptidase 51 ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chr  X:19,268,352...19,273,753
Ensembl chr  X:19,270,181...19,273,139
JBrowse link
G Vdr vitamin D receptor treatment ISO DNA:polymorphism:promoter:rs11568820(human)
DNA:SNP:promoter: rs11568820(human)
RGD PMID:24015038, PMID:26400282 RGD:13217415, RGD:11353416 NCBI chr 7:139,344,452...139,394,138
Ensembl chr 7:139,342,063...139,394,166
JBrowse link
G Vps11 VPS11 core subunit of CORVET and HOPS complexes ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:48,677,492...48,692,295
Ensembl chr 8:48,677,492...48,692,295
JBrowse link
G Vps13b vacuolar protein sorting 13 homolog B ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:15141358 PMID:15154116 PMID:16648375 PMID:17990063 PMID:20461111 PMID:25525159 PMID:25741868 PMID:28492532 NCBI chr 7:74,118,834...74,722,341
Ensembl chr 7:75,852,610...75,858,812
JBrowse link
G Vsig2 V-set and immunoglobulin domain containing 2 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:40,009,691...40,014,734
Ensembl chr 8:40,009,691...40,014,734
JBrowse link
G Vwa5a von Willebrand factor A domain containing 5A ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:42,442,932...42,476,417
Ensembl chr 8:42,443,442...42,466,907
Ensembl chr 3:42,443,442...42,466,907
JBrowse link
G Vwce von Willebrand factor C and EGF domains ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chr 1:226,687,258...226,717,989
Ensembl chr 1:226,687,258...226,710,897
JBrowse link
G Wdr6 WD repeat domain 6 ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chr 8:117,358,345...117,364,761
Ensembl chr 8:117,358,787...117,366,096
JBrowse link
G Wdr62 WD repeat domain 62 ISO RGD PMID:24875059 RGD:11541053 NCBI chr 1:90,995,545...91,034,592
Ensembl chr 1:88,694,824...88,734,223
JBrowse link
G Wnt4 Wnt family member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17505543 NCBI chr 5:155,649,238...155,668,065
Ensembl chr 5:155,649,217...155,672,579
JBrowse link
G Xdh xanthine dehydrogenase ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:25,149,570...25,211,273
Ensembl chr 6:25,149,235...25,211,494
JBrowse link
G Zbed4 zinc finger, BED-type containing 4 ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chr 7:129,749,714...129,787,093
Ensembl chr 7:129,749,714...129,787,093
JBrowse link
G Zbtb44 zinc finger and BTB domain containing 44 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:32,165,388...32,223,341
Ensembl chr 8:32,165,810...32,217,476
JBrowse link
G Zfc3h1 zinc finger, C3H1-type containing ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chr 7:58,365,979...58,424,326
Ensembl chr 7:58,366,192...58,423,581
JBrowse link
G Zfhx3 zinc finger homeobox 3 ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chr19:42,753,983...42,925,794
Ensembl chr19:42,758,127...42,920,344
JBrowse link
G Zfp202 zinc finger protein 202 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:44,047,586...44,068,990
Ensembl chr 8:44,047,592...44,068,003
JBrowse link
G Zfp446 zinc finger protein 446 ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chr 1:65,595,518...65,608,757 JBrowse link
G Zfp449 zinc finger protein 449 ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chr  X:73,390,885...73,413,939
Ensembl chr  X:73,390,903...73,413,931
JBrowse link
G Zpr1 ZPR1 zinc finger ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:50,563,047...50,572,621
Ensembl chr 8:50,563,047...50,572,621
JBrowse link
3-M syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc8 coiled-coil domain containing 8 ISS OMIM:273750 | OMIM:612921 | OMIM:614205 MouseDO NCBI chr 1:78,933,372...78,936,700
Ensembl chr 1:78,933,372...78,936,700
JBrowse link
G Cul7 cullin 7 ISO ClinVar Annotator: match by OMIM:273750
ClinVar Annotator: match by term: 3-M syndrome
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by synonym: Yakut short stature syndrome
ClinVar
CTD
PMID:17675530 PMID:28492532 NCBI chr 9:16,629,491...16,643,527
Ensembl chr 9:16,629,401...16,643,182
JBrowse link
G Obsl1 obscurin like cytoskeletal adaptor 1 ISO
ISS
ClinVar Annotator: match by term: Three M syndrome
OMIM:273750 | OMIM:612921 | OMIM:614205
ClinVar
MouseDO
NCBI chr 9:82,673,871...82,699,577
Ensembl chr 9:82,680,384...82,699,551
JBrowse link
Aarskog syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgd1 FYVE, RhoGEF and PH domain containing 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Aarskog syndrome
ClinVar Annotator: match by term: FGDY
ClinVar Annotator: match by term: Aarskog disease
CTD
ClinVar
PMID:4146757 PMID:7954831 PMID:10930571 PMID:11093277 PMID:11940089 PMID:14560308 PMID:15327482 PMID:15809997 PMID:16353258 PMID:16688726 PMID:17152066 PMID:17847065 PMID:20082460 PMID:25741868 PMID:28492532 PMID:29276006 NCBI chr  X:20,100,942...20,143,871
Ensembl chr  X:20,216,587...20,225,955
Ensembl chr  X:20,216,587...20,225,955
JBrowse link
G Tsr2 TSR2, ribosome maturation factor ISO ClinVar Annotator: match by term: Aarskog syndrome ClinVar PMID:25741868 NCBI chr  X:20,141,406...20,146,082
Ensembl chr  X:20,144,432...20,232,639
JBrowse link
achondrogenesis type IA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trip11 thyroid hormone receptor interactor 11 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA
ClinVar Annotator: match by OMIM:200600
OMIM
ClinVar
PMID:200899 PMID:2008997 PMID:20089971 PMID:23956106 PMID:24033266 PMID:25741868 PMID:28492532 PMID:29872333 PMID:30728324 NCBI chr 6:125,741,520...125,812,926
Ensembl chr 6:125,742,796...125,812,517
JBrowse link
achondrogenesis type IB term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc26a2 solute carrier family 26 member 2 ISO ClinVar Annotator: match by term: Achondrogenesis, type IB
ClinVar Annotator: match by term: Achondrogenesis Fraccaro type
DNA:mutations:cds:
ClinVar Annotator: match by OMIM:600972
OMIM
ClinVar
PMID:7923357 PMID:8528239 PMID:8571951 PMID:8702127 PMID:8723100 PMID:8931695 PMID:9342225 PMID:10465113 PMID:10482955 PMID:11241838 PMID:11303514 PMID:11448940 PMID:11558903 PMID:11565064 PMID:12525546 PMID:12966518 PMID:15294877 PMID:15316973 PMID:16642506 PMID:17393463 PMID:18708426 PMID:18925670 PMID:20219950 PMID:20301524 PMID:20525296 PMID:20592910 PMID:20981092 PMID:21077202 PMID:21077204 PMID:21155763 PMID:21228398 PMID:21922596 PMID:22052783 PMID:23369989 PMID:23840040 PMID:24033266 PMID:24598000 PMID:25741868 PMID:27065010 PMID:28492532 PMID:29024831 PMID:31880411, PMID:8528239 RGD:11068488 NCBI chr18:56,518,999...56,534,539
Ensembl chr18:56,520,740...56,534,415
JBrowse link
achondrogenesis type II term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col2a1 collagen type II alpha 1 chain ISO ClinVar Annotator: match by term: Achondrogenesis type II
ClinVar Annotator: match by term: Chondrogenesis imperfecta
ClinVar Annotator: match by term: Achondrogenesis, type II
ClinVar Annotator: match by OMIM:200610
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:7741714 PMID:7752132 PMID:7757081 PMID:7829510 PMID:8325895 PMID:9101290 PMID:10982970 PMID:11007540 PMID:12429249 PMID:12939326 PMID:15054848 PMID:17994563 PMID:20179744 PMID:20301479 PMID:21472893 PMID:21924244 PMID:22496037 PMID:22522174 PMID:23592912 PMID:25735649 PMID:25741868 PMID:26747767 PMID:27390512 PMID:28492532 PMID:28559085 PMID:29453956 PMID:30181686 NCBI chr 7:139,454,945...139,484,403
Ensembl chr 7:139,455,242...139,483,997
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 chr 1:140,762,758...140,824,441
Ensembl chr 1:140,762,758...140,824,441
JBrowse link
G Fgfr3 fibroblast growth factor receptor 3 severity ISO DNA:missense mutation:cds:p.G380R (human)
ClinVar Annotator: match by term: Achondroplasia
ClinVar Annotator: match by term: Skeleton skin brain syndrome
DNA:mutation:cds:p.K650M(human)
ClinVar
OMIM
PMID:1908846 PMID:4697848 PMID:7649548 PMID:7670477 PMID:7758520 PMID:7773297 PMID:7847369 PMID:7913883 PMID:8078586 PMID:8589686 PMID:8589699 PMID:8599370 PMID:8673103 PMID:8723101 PMID:8723106 PMID:8841188 PMID:8858131 PMID:9042914 PMID:9107244 PMID:9279753 PMID:9279764 PMID:9450868 PMID:9452043 PMID:9525367 PMID:9580776 PMID:9585583 PMID:9600744 PMID:9672519 PMID:9677066 PMID:9842995 PMID:9843059 PMID:9950359 PMID:10073901 PMID:10094188 PMID:10360392 PMID:10360393 PMID:10361991 PMID:10395236 PMID:10471491 PMID:10587515 PMID:10696568 PMID:10777366 PMID:10861678 PMID:11030304 PMID:11038465 PMID:11055896 PMID:11186939 PMID:11186940 PMID:11241532 PMID:11424131 PMID:11529856 PMID:11746040 PMID:11754059 PMID:11879084 PMID:12707965 PMID:12833394 PMID:14613973 PMID:15241680 PMID:15517832 PMID:15772091 PMID:15915095 PMID:16766665 PMID:16841094 PMID:16912704 PMID:17384684 PMID:17552943 PMID:17875876 PMID:17895900 PMID:18198189 PMID:18266238 PMID:18583390 PMID:18642369 PMID:19215249 PMID:19381019 PMID:19749790 PMID:20624921 PMID:21324899 PMID:21739570 PMID:22016144 PMID:22045636 PMID:22339077 PMID:22622662 PMID:23149434 PMID:23165795 PMID:24715719 PMID:24728327 PMID:25157968 PMID:25606676 PMID:25614871 PMID:25691418 PMID:25741868 PMID:25809207 PMID:26380986 PMID:26619011 PMID:26740388 PMID:26818779 PMID:28492532 PMID:32238909, PMID:8078586, PMID:10377013 RGD:1598937, RGD:11568054 NCBI chr14:82,272,322...82,287,739
Ensembl chr14:82,273,070...82,287,706
JBrowse link
G Npr2 natriuretic peptide receptor 2 ISO
ISS
DNA:missense mutation:cds:p.L885R (mouse)
OMIM:100800
MouseDO PMID:15722353 RGD:1580771 NCBI chr 5:59,128,186...59,147,321
Ensembl chr 5:59,128,315...59,147,255
JBrowse link
G Pthlh parathyroid hormone-like hormone ISS OMIM:100800 MouseDO NCBI chr 4:181,663,425...181,674,181 JBrowse link
G Spred2 sprouty-related, EVH1 domain containing 2 ISS OMIM:100800 MouseDO NCBI chr14:104,268,362...104,290,206
Ensembl chr14:104,191,517...104,290,456
JBrowse link
Achondroplastic Dwarfism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgfr3 fibroblast growth factor receptor 3 ISO ClinVar Annotator: match by term: Achondroplastic dwarfism ClinVar PMID:1908846 PMID:7773297 PMID:8589699 PMID:8858131 PMID:9677066 PMID:10073901 PMID:10471491 PMID:10696568 PMID:11038465 PMID:11055896 PMID:11241532 PMID:11529856 PMID:11879084 PMID:12833394 PMID:15772091 PMID:16841094 PMID:17384684 PMID:17875876 PMID:18583390 PMID:18642369 PMID:19381019 PMID:19749790 PMID:25157968 PMID:25606676 PMID:25741868 PMID:25809207 PMID:26619011 PMID:26818779 PMID:28492532 NCBI chr14:82,272,322...82,287,739
Ensembl chr14:82,273,070...82,287,706
JBrowse link
acromesomelic dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gdf5 growth differentiation factor 5 ISO ClinVar Annotator: match by term: Acromesomelic Dysplasia ClinVar NCBI chr 3:151,482,672...151,487,129
Ensembl chr 3:151,483,249...151,486,693
JBrowse link
G Npr2 natriuretic peptide receptor 2 ISO ClinVar Annotator: match by term: Acromesomelic Dysplasia ClinVar NCBI chr 5:59,128,186...59,147,321
Ensembl chr 5:59,128,315...59,147,255
JBrowse link
Acromesomelic Dysplasia, Demirhan Type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bmpr1b bone morphogenetic protein receptor type 1B ISO ClinVar Annotator: match by term: Acromesomelic dysplasia, Demirhan type
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:609441
OMIM
ClinVar
CTD
PMID:15805157 PMID:24129431 PMID:25741868 PMID:26105076 PMID:28492532 NCBI chr 2:247,392,195...247,662,026
Ensembl chr 2:247,403,920...247,446,882
JBrowse link
acromesomelic dysplasia, Grebe type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gdf5 growth differentiation factor 5 ISO ClinVar Annotator: match by term: Grebe syndrome
DNA:missense mutation:cds:c.1285T>C (p.C429R)(human)
DNA:missense mutation:cds:c.527T>C(p.L176P)(human)
DNA:insertion mutation:cds:1114insGAGT(human)
ClinVar Annotator: match by OMIM:200700
OMIM
ClinVar
PMID:9288098 PMID:12124730 PMID:12900894 PMID:17384641 PMID:25741868 PMID:28492532, PMID:18979166, PMID:23812741, PMID:19038017 RGD:12487346, RGD:12437083, RGD:12437075 NCBI chr 3:151,482,672...151,487,129
Ensembl chr 3:151,483,249...151,486,693
JBrowse link
acromesomelic dysplasia, Hunter-Thompson type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bmpr1b bone morphogenetic protein receptor type 1B ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Acromesomelic dysplasia, Hunter-Thompson type
CTD
ClinVar
PMID:29322508 NCBI chr 2:247,392,195...247,662,026
Ensembl chr 2:247,403,920...247,446,882
JBrowse link
G Gdf5 growth differentiation factor 5 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia, Hunter-Thompson type
ClinVar Annotator: match by term: Acromesomelic dysplasia Hunter Thompson type
OMIM
ClinVar
PMID:964999 PMID:2703235 PMID:8589725 PMID:17384641 PMID:25741868 PMID:28492532 NCBI chr 3:151,482,672...151,487,129
Ensembl chr 3:151,483,249...151,486,693
JBrowse link
acromesomelic dysplasia, Maroteaux type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Npr2 natriuretic peptide receptor 2 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia, Maroteaux type
ClinVar Annotator: match by term: Acromesomelic dysplasia Maroteaux type
ClinVar Annotator: match by OMIM:602875
OMIM
ClinVar
PMID:15146390 PMID:16199547 PMID:16384845 PMID:22691581 PMID:23065701 PMID:24001744 PMID:24471569 PMID:25703509 PMID:25741868 PMID:25959430 PMID:26075495 PMID:26284228 PMID:27994189 PMID:28492532 PMID:31990356 NCBI chr 5:59,128,186...59,147,321
Ensembl chr 5:59,128,315...59,147,255
JBrowse link
G Spag8 sperm associated antigen 8 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia Maroteaux type
ClinVar Annotator: match by term: Acromesomelic dysplasia, Maroteaux type
ClinVar PMID:15146390 PMID:22691581 PMID:25741868 PMID:28492532 NCBI chr 5:59,147,412...59,149,625
Ensembl chr 5:59,147,337...59,149,699
JBrowse link
Alazami Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Larp7 La ribonucleoprotein 7, transcriptional regulator ISO ClinVar Annotator: match by term: Alazami syndrome
ClinVar Annotator: match by OMIM:615071
ClinVar Annotator: match by This custom term has been created by RGD curators.
OMIM
ClinVar
PMID:22865833 PMID:25741868 PMID:30006060 PMID:32860008 NCBI chr 2:231,866,888...231,882,002
Ensembl chr 2:231,867,135...231,881,939
JBrowse link
AMED syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adh5 alcohol dehydrogenase 5 (class III), chi polypeptide ISO ClinVar Annotator: match by term: AMED SYNDROME, DIGENIC OMIM
ClinVar
PMID:33355142 NCBI chr 2:243,728,500...243,740,907
Ensembl chr 2:243,700,784...243,740,899
JBrowse link
G Aldh2 aldehyde dehydrogenase 2 family member ISO ClinVar Annotator: match by term: BONE MARROW FAILURE SYNDROME 7, DIGENIC ClinVar PMID:2987944 PMID:4065146 PMID:6650498 PMID:7180842 PMID:7593603 PMID:8903321 PMID:10627091 PMID:10780266 PMID:15654505 PMID:16046871 PMID:16440063 PMID:17885622 PMID:18056758 PMID:20010786 PMID:33355142 NCBI chr12:40,466,418...40,498,813
Ensembl chr12:40,466,495...40,498,752
JBrowse link
anauxetic dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arhgef39 Rho guanine nucleotide exchange factor 39 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 5:58,998,209...59,001,779
Ensembl chr 5:58,995,249...59,001,800
JBrowse link
G Ca9 carbonic anhydrase 9 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 5:59,008,277...59,015,535
Ensembl chr 5:59,008,933...59,015,528
JBrowse link
G Ccdc107 coiled-coil domain containing 107 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:8034306 PMID:9156319 PMID:10026268 PMID:11006544 PMID:11207361 PMID:11940090 PMID:12107819 PMID:12888988 PMID:14569119 PMID:16097009 PMID:16254002 PMID:16838329 PMID:17701897 PMID:25741868 PMID:28094436 PMID:28492532 NCBI chr 5:58,995,211...58,998,620
Ensembl chr 5:58,995,249...58,997,953
JBrowse link
G Ccin calicin ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 5:59,452,348...59,454,235
Ensembl chr 5:59,452,348...59,454,233
JBrowse link
G Ccl19 C-C motif chemokine ligand 19 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 5:58,181,025...58,182,969
Ensembl chr 5:58,181,026...58,183,017
JBrowse link
G Ccl21 C-C motif chemokine ligand 21 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 5:58,197,678...58,198,782
Ensembl chr 5:58,197,680...58,198,782
JBrowse link
G Ccl27 C-C motif chemokine ligand 27 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 5:58,159,066...58,166,182
Ensembl chr 5:58,159,066...58,163,584
JBrowse link
G Cd72 Cd72 molecule ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 5:58,943,021...58,950,373
Ensembl chr 5:58,943,027...58,950,373
JBrowse link
G Clta clathrin, light chain A ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 5:59,490,689...59,509,139
Ensembl chr 5:59,491,096...59,509,138
JBrowse link
G Creb3 cAMP responsive element binding protein 3 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 5:59,063,532...59,068,196
Ensembl chr 5:59,063,531...59,068,188
JBrowse link
G Dnajb5 DnaJ heat shock protein family (Hsp40) member B5 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 5:58,393,197...58,402,162
Ensembl chr 5:58,393,233...58,401,870
JBrowse link
G Fam166b family with sequence similarity 166, member B ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 5:58,883,064...58,884,136 JBrowse link
G Fam205a family with sequence similarity 205, member A ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 5:58,282,202...58,303,075
Ensembl chr 5:58,282,379...58,288,125
JBrowse link
G Fam205c family with sequence similarity 205, member C ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 5:58,303,741...58,310,209
Ensembl chr 5:58,303,768...58,309,644
JBrowse link
G Fam214b family with sequence similarity 214, member B ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 5:58,477,894...58,484,900
Ensembl chr 5:58,477,894...58,484,900
JBrowse link
G Fam221b family with sequence similarity 221, member B ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 5:59,156,079...59,165,440
Ensembl chr 5:59,156,071...59,165,160
JBrowse link
G Fancg FA complementation group G ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 5:58,448,060...58,456,416
Ensembl chr 5:58,448,822...58,455,819
JBrowse link
G Galt galactose-1-phosphate uridylyltransferase ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 5:58,144,679...58,147,946
Ensembl chr 5:58,144,705...58,147,929
JBrowse link
G Gba2 glucosylceramidase beta 2 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 5:59,068,081...59,079,719
Ensembl chr 5:59,068,081...59,079,719
JBrowse link
G Glipr2 GLI pathogenesis-related 2 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 5:59,415,415...59,446,732
Ensembl chr 5:59,416,076...59,446,647
JBrowse link
G Gne glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 5:59,511,738...59,553,421
Ensembl chr 5:59,512,872...59,553,416
JBrowse link
G Hint2 histidine triad nucleotide binding protein 2 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 5:59,150,344...59,152,599
Ensembl chr 5:59,150,345...59,152,599
JBrowse link
G Hrct1 histidine rich carboxyl terminus 1 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 5:59,228,138...59,228,915
Ensembl chr 5:59,228,199...59,228,519
JBrowse link
G Il11ra1 interleukin 11 receptor subunit alpha 1 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 5:58,149,150...58,159,072
Ensembl chr 5:58,151,985...58,159,072
JBrowse link
G LOC100360821 rCG55159-like ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 5:58,416,058...58,421,991
Ensembl chr 5:58,416,432...58,420,342
JBrowse link
G Msmp microseminoprotein, prostate associated ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 Ensembl chr 5:59,084,626...59,085,676 JBrowse link
G Npr2 natriuretic peptide receptor 2 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 5:59,128,186...59,147,321
Ensembl chr 5:59,128,315...59,147,255
JBrowse link
G Olr834 olfactory receptor 834 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 5:59,207,120...59,208,058
Ensembl chr 5:59,207,120...59,208,058
JBrowse link
G Olr840 olfactory receptor 840 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 5:59,326,803...59,327,762
Ensembl chr 5:59,326,803...59,327,762
JBrowse link
G Phf24 PHD finger protein 24 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 5:58,359,744...58,387,446
Ensembl chr 5:58,359,498...58,383,070
JBrowse link
G Pigo phosphatidylinositol glycan anchor biosynthesis, class O ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 5:58,461,055...58,470,699
Ensembl chr 5:58,461,759...58,469,399
JBrowse link
G Reck reversion-inducing-cysteine-rich protein with kazal motifs ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 5:59,348,568...59,415,169
Ensembl chr 5:59,348,639...59,415,135
JBrowse link
G Rgp1 RGP1 homolog, RAB6A GEF complex partner 1 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 5:59,080,290...59,088,777
Ensembl chr 5:59,080,765...59,088,523
JBrowse link
G Rusc2 RUN and SH3 domain containing 2 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 5:58,860,444...58,883,152
Ensembl chr 5:58,855,773...58,882,096
JBrowse link
G Sit1 signaling threshold regulating transmembrane adaptor 1 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 5:58,985,912...58,987,538
Ensembl chr 5:58,985,829...58,987,760
JBrowse link
G Spaar small regulatory polypeptide of amino acid response ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532
G Spag8 sperm associated antigen 8 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 5:59,147,412...59,149,625
Ensembl chr 5:59,147,337...59,149,699
JBrowse link
G Stoml2 stomatin like 2 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 5:58,472,561...58,476,158
Ensembl chr 5:58,472,550...58,476,251
JBrowse link
G Tesk1 testis associated actin remodelling kinase 1 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 5:58,937,615...58,943,358
Ensembl chr 5:58,937,615...58,943,358
JBrowse link
G Tln1 talin 1 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 5:59,033,635...59,063,592
Ensembl chr 5:59,033,636...59,063,592
JBrowse link
G Tmem8b transmembrane protein 8B ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 5:59,165,552...59,193,772
Ensembl chr 5:59,178,846...59,191,975
JBrowse link
G Tpm2 tropomyosin 2 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 5:59,016,616...59,025,971
Ensembl chr 5:59,016,622...59,025,631
JBrowse link
G Unc13b unc-13 homolog B ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 5:58,505,449...58,714,396
Ensembl chr 5:58,505,500...58,715,576
JBrowse link
G Vcp valosin-containing protein ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 5:58,426,548...58,445,953
Ensembl chr 5:58,426,549...58,445,953
JBrowse link
anauxetic dysplasia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc107 coiled-coil domain containing 107 ISO ClinVar Annotator: match by term: Anauxetic dysplasia 1 ClinVar PMID:8034306 PMID:9156319 PMID:10026268 PMID:11006544 PMID:11207361 PMID:11940090 PMID:12107819 PMID:12888988 PMID:14569119 PMID:16097009 PMID:16254002 PMID:16838329 PMID:17701897 PMID:25741868 PMID:28094436 PMID:28492532 NCBI chr 5:58,995,211...58,998,620
Ensembl chr 5:58,995,249...58,997,953
JBrowse link
G Pop1 POP1 homolog, ribonuclease P/MRP subunit ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 7:73,270,403...73,298,209
Ensembl chr 7:73,270,455...73,298,239
JBrowse link
anauxetic dysplasia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pop1 POP1 homolog, ribonuclease P/MRP subunit ISO ClinVar Annotator: match by term: ANAUXETIC DYSPLASIA 2
ClinVar Annotator: match by term: Anauxetic dysplasia 2
ClinVar
OMIM
PMID:21455487 PMID:25741868 PMID:27380734 PMID:28067412 NCBI chr 7:73,270,403...73,298,209
Ensembl chr 7:73,270,455...73,298,239
JBrowse link
anauxetic dysplasia 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nepro nucleolus and neural progenitor protein ISO ClinVar Annotator: match by term: ANAUXETIC DYSPLASIA 3 ClinVar
OMIM
PMID:26633546 PMID:29620724 PMID:31250547 NCBI chr11:60,919,477...60,931,642
Ensembl chr11:60,919,453...60,931,794
JBrowse link
Atelosteogenesis Type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Flnb filamin B ISO ClinVar Annotator: match by term: Atelosteogenesis type III
ClinVar Annotator: match by term: Atelosteogenesis type 3
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:14991055 PMID:25741868 PMID:28492532 NCBI chr15:18,750,152...18,883,019
Ensembl chr15:18,750,118...18,883,005
JBrowse link
autosomal dominant Robinow syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dvl1 dishevelled segment polarity protein 1 ISS
ISO
OMIM:180700
ClinVar Annotator: match by term: Robinow syndrome, autosomal dominant 1
MouseDO
ClinVar
PMID:25741868 PMID:28492532 NCBI chr 5:173,295,948...173,308,014
Ensembl chr 5:173,296,270...173,307,945
JBrowse link
G Dvl3 dishevelled segment polarity protein 3 ISO ClinVar Annotator: match by term: Robinow syndrome, autosomal dominant 1 ClinVar PMID:23806086 PMID:24088041 PMID:25741868 PMID:26924530 NCBI chr11:84,051,177...84,068,479
Ensembl chr11:84,051,078...84,068,302
JBrowse link
G Fzd2 frizzled class receptor 2 ISO ClinVar Annotator: match by term: Robinow syndrome, autosomal dominant 1 ClinVar PMID:25759469 PMID:29276006 NCBI chr10:90,550,147...90,552,057
Ensembl chr10:90,550,147...90,552,057
JBrowse link
G Ror2 receptor tyrosine kinase-like orphan receptor 2 ISO ClinVar Annotator: match by term: Robinow syndrome, autosomal dominant 1 ClinVar PMID:25741868 NCBI chr17:11,953,552...12,134,386
Ensembl chr17:11,953,552...12,134,386
JBrowse link
G Wnt5a Wnt family member 5A ISO ClinVar Annotator: match by term: Robinow syndrome, autosomal dominant 1 OMIM
ClinVar
PMID:5771504 PMID:16602827 PMID:18414213 PMID:19918918 PMID:24716670 PMID:25326635 PMID:25741868 PMID:28492532 PMID:29276006 PMID:30760477 NCBI chr16:4,469,451...4,490,271
Ensembl chr16:4,469,468...4,489,860
JBrowse link
autosomal dominant Robinow syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chn1 chimerin 1 ISO ClinVar Annotator: match by term: Robinow syndrome, autosomal dominant 2 ClinVar NCBI chr 3:60,512,360...60,668,413
Ensembl chr 3:60,513,077...60,611,924
JBrowse link
G Dvl1 dishevelled segment polarity protein 1 ISO ClinVar Annotator: match by term: Robinow syndrome, autosomal dominant 2 ClinVar
OMIM
PMID:10319206 PMID:23806086 PMID:24088041 PMID:25045061 PMID:25741868 PMID:25817014 PMID:25817016 PMID:26924530 PMID:28492532 PMID:29276006 NCBI chr 5:173,295,948...173,308,014
Ensembl chr 5:173,296,270...173,307,945
JBrowse link
G Dvl3 dishevelled segment polarity protein 3 ISO ClinVar Annotator: match by term: Robinow syndrome, autosomal dominant 2 ClinVar PMID:29276006 NCBI chr11:84,051,177...84,068,479
Ensembl chr11:84,051,078...84,068,302
JBrowse link
G Fzd2 frizzled class receptor 2 ISO ClinVar Annotator: match by term: Robinow syndrome, autosomal dominant 2 ClinVar PMID:25759469 PMID:29276006 NCBI chr10:90,550,147...90,552,057
Ensembl chr10:90,550,147...90,552,057
JBrowse link
autosomal dominant Robinow syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dvl3 dishevelled segment polarity protein 3 ISO ClinVar Annotator: match by term: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3
ClinVar Annotator: match by term: Robinow syndrome, autosomal dominant 3
ClinVar
OMIM
PMID:23806086 PMID:24088041 PMID:25741868 PMID:26924530 NCBI chr11:84,051,177...84,068,479
Ensembl chr11:84,051,078...84,068,302
JBrowse link
G Fzd2 frizzled class receptor 2 ISO ClinVar Annotator: match by term: Robinow syndrome, autosomal dominant 3 ClinVar PMID:29276006 NCBI chr10:90,550,147...90,552,057
Ensembl chr10:90,550,147...90,552,057
JBrowse link
autosomal recessive Robinow syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prickle1 prickle planar cell polarity protein 1 ISS OMIM:268310 MouseDO NCBI chr 7:134,702,964...134,799,437
Ensembl chr 7:134,702,964...134,722,215
JBrowse link
G Ror2 receptor tyrosine kinase-like orphan receptor 2 ISO ClinVar Annotator: match by term: Robinow syndrome, autosomal recessive
ClinVar Annotator: match by OMIM:268310
CTD Direct Evidence: marker/mechanism
DNA:missense mutations:exons: c.545G>A (p.C182Y),c.227G>A (p.G76D), c.668G>A (p.C223Y)(human)
DNA:nonsense mutation:cds:p.W749X(mouse)
ClinVar Annotator: match by term: Robinow syndrome, autosomal recessive, with aplasia/hypoplasia of phalanges and metacarpals/metatarsals
ClinVar Annotator: match by term: Robinow syndrome, autosomal recessive, with brachy-syn-polydactyly
ClinVar Annotator: match by null
OMIM
ClinVar
CTD
PMID:10932186 PMID:10932187 PMID:10986040 PMID:12815588 PMID:15952209 PMID:16049033 PMID:17665217 PMID:18252861 PMID:18414213 PMID:18831060 PMID:19640924 PMID:25741868 PMID:26284319 PMID:28492532, PMID:24932600, PMID:14745966, PMID:18353862 RGD:11537348, RGD:11537347, RGD:11535948 NCBI chr17:11,953,552...12,134,386
Ensembl chr17:11,953,552...12,134,386
JBrowse link
Autosomal Recessive Robinow Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nxn nucleoredoxin ISO ClinVar Annotator: match by term: ROBINOW SYNDROME, AUTOSOMAL RECESSIVE 2 OMIM
ClinVar
PMID:25741868 PMID:29276006 NCBI chr10:64,411,710...64,550,147
Ensembl chr10:64,412,833...64,550,145
JBrowse link
blepharophimosis-intellectual disability syndrome, SBBYS type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dusp29 dual specificity phosphatase 29 ISO ClinVar Annotator: match by term: Young Simpson syndrome
ClinVar Annotator: match by term: Blepharophimosis - intellectual disability syndrome, SBBYS type
ClinVar PMID:8055130 PMID:18798845 PMID:21344633 PMID:22077973 PMID:23236640 PMID:23436491 PMID:25326637 PMID:25741868 PMID:27696664 PMID:28492532 NCBI chr15:2,766,929...2,806,573
Ensembl chr15:2,766,710...2,806,536
JBrowse link
G Kat6b lysine acetyltransferase 6B ISO DNA:mutations:cds:multiple (human)
ClinVar Annotator: match by term: Blepharophimosis - intellectual disability syndrome, SBBYS type
ClinVar Annotator: match by term: Young Simpson syndrome
ClinVar Annotator: match by OMIM:603736
ClinVar
OMIM
PMID:8055130 PMID:18798845 PMID:21344633 PMID:22077973 PMID:23236640 PMID:23436491 PMID:25326637 PMID:25424711 PMID:25741868 PMID:26334766 PMID:26938784 PMID:27696664 PMID:28492532 PMID:28758091 PMID:30353918, PMID:22077973 RGD:9588484 NCBI chr15:2,811,933...2,966,833
Ensembl chr15:2,813,537...2,966,576
JBrowse link
G Smarca2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 ISO ClinVar Annotator: match by term: Blepharophimosis - intellectual disability syndrome ClinVar PMID:32694869 NCBI chr 1:244,615,811...244,783,736
Ensembl chr 1:244,615,821...244,782,706
JBrowse link
Boomerang dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Flnb filamin B ISO ClinVar Annotator: match by term: Boomerang dysplasia
ClinVar Annotator: match by OMIM:112310
OMIM
ClinVar
PMID:12955767 PMID:14991055 PMID:17510210 PMID:25741868 NCBI chr15:18,750,152...18,883,019
Ensembl chr15:18,750,118...18,883,005
JBrowse link
Brain-Lung-Thyroid Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nkx2-1 NK2 homeobox 1 ISO ClinVar Annotator: match by term: Choreoathetosis, hypothyroidism, and neonatal respiratory distress
DNA:missense mutation exon:p.L224R (c.671T>G) (human)
DNA:nonsense mutation:exon:p.S145X (c.609C>A) (human)
DNA:deletion:exon:p.R165Gfs*32 (c.493delC) (human)
DNA:deletion:exon:p.M29Afs*40 (c.84_90del) (human)
ClinVar Annotator: match by OMIM:610978
OMIM
ClinVar
PMID:11854318 PMID:11854319 PMID:12891678 PMID:15289765 PMID:15955952 PMID:17220277 PMID:18788921 PMID:19176457 PMID:19336474 PMID:24555207 PMID:25326635 PMID:25741868 PMID:28492532 PMID:29538355, PMID:26839702, PMID:18788921, PMID:23379327, PMID:23911641 RGD:12914770, RGD:11073166, RGD:12914769, RGD:12914768 NCBI chr 6:77,418,096...77,423,383
Ensembl chr 6:77,418,096...77,421,286
JBrowse link
CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Iars2 isoleucyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia OMIM
ClinVar
PMID:8409271 PMID:25130867 PMID:25741868 PMID:28328135 PMID:28492532 PMID:30041933 PMID:30419932 NCBI chr13:103,229,868...103,265,019
Ensembl chr13:103,231,387...103,264,906
JBrowse link
cerebrooculofacioskeletal syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ercc6 ERCC excision repair 6, chromatin remodeling factor ISO ClinVar Annotator: match by term: Cerebrooculofacioskeletal Syndrome ClinVar PMID:18414213 PMID:25741868 PMID:28492532 NCBI chr16:8,734,028...8,804,610
Ensembl chr16:8,734,035...8,804,610
JBrowse link
cerebrooculofacioskeletal syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit ISO ClinVar Annotator: match by term: CEREBROOCULOFACIOSKELETAL SYNDROME 1 ClinVar PMID:24728327 PMID:25741868 NCBI chr 1:80,293,574...80,307,334
Ensembl chr 1:80,293,566...80,307,344
JBrowse link
G Ercc6 ERCC excision repair 6, chromatin remodeling factor ISO ClinVar Annotator: match by term: Cerebrooculofacioskeletal syndrome 1
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: CEREBROOCULOFACIOSKELETAL SYNDROME 1
DNA:nonsense mutation
DNA:point mutation: :c.3862C>T (human)
ClinVar Annotator: match by OMIM:214150
OMIM
ClinVar
CTD
PMID:7063265 PMID:9443879 PMID:10739753 PMID:10767341 PMID:18414213 PMID:18628313 PMID:19894250 PMID:20456449 PMID:21228398 PMID:22661500 PMID:22904069 PMID:23311583 PMID:23422418 PMID:23428416 PMID:25136123 PMID:25326635 PMID:25741868 PMID:25820262 PMID:27004399 PMID:27356891 PMID:28492532 PMID:29572252, PMID:10739753, PMID:20456449 RGD:10401101, RGD:10401092 NCBI chr16:8,734,028...8,804,610
Ensembl chr16:8,734,035...8,804,610
JBrowse link
cerebrooculofacioskeletal syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit ISO DNA:missense mutations:p.R616W, p.D681N (human)
ClinVar Annotator: match by term: Cerebrooculofacioskeletal syndrome 2
ClinVar Annotator: match by OMIM:610756
ClinVar
OMIM
PMID:7585650 PMID:7920640 PMID:8571952 PMID:9238033 PMID:9651581 PMID:11443545 PMID:11710928 PMID:11734544 PMID:12820975 PMID:15494306 PMID:18510925 PMID:18637129 PMID:19931493 PMID:19934020 PMID:20944642 PMID:22234153 PMID:22826098 PMID:23039039 PMID:23221806 PMID:23232694 PMID:23800062 PMID:24033266 PMID:24252196 PMID:24418926 PMID:24448499 PMID:24728327 PMID:25620205 PMID:25741868 PMID:26556299 PMID:26884178 PMID:27004399 PMID:27396511 PMID:28492532 PMID:29478780, PMID:11443545 RGD:1601070 NCBI chr 1:80,293,574...80,307,334
Ensembl chr 1:80,293,566...80,307,344
JBrowse link
cerebrooculofacioskeletal syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ercc5 ERCC excision repair 5, endonuclease ISO ClinVar Annotator: match by term: Cerebrooculofacioskeletal syndrome 3 ClinVar
OMIM
PMID:492197 PMID:698095 PMID:8818951 PMID:11443545 PMID:11841555 PMID:17466625 PMID:24700531 PMID:24728327 PMID:25741868 PMID:28492532 NCBI chr 9:50,928,847...50,970,962
Ensembl chr 9:50,925,619...50,970,955
JBrowse link
cerebrooculofacioskeletal syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit ISO ClinVar Annotator: match by term: Cerebrooculofacioskeletal syndrome 4
ClinVar Annotator: match by OMIM:610758
OMIM
ClinVar
PMID:17273966 PMID:23623389 PMID:25741868 PMID:28492532 NCBI chr 1:80,256,973...80,268,198
Ensembl chr 1:80,256,973...80,268,198
JBrowse link
G Polr1g RNA polymerase I subunit G ISO ClinVar Annotator: match by term: Cerebrooculofacioskeletal syndrome 4 ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:80,267,725...80,271,001
Ensembl chr 1:80,267,725...80,271,001
JBrowse link
Cockayne syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit ISO ClinVar Annotator: match by term: Cockayne syndrome ClinVar PMID:17273966 PMID:23623389 NCBI chr 1:80,256,973...80,268,198
Ensembl chr 1:80,256,973...80,268,198
JBrowse link
G Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit ISO associated with Xeroderma Pigmentosum;DNA:missense mutation: :p.G602D (mouse) RGD PMID:16904611 RGD:10401080 NCBI chr 1:80,293,574...80,307,334
Ensembl chr 1:80,293,566...80,307,344
JBrowse link
G Ercc3 ERCC excision repair 3, TFIIH core complex helicase subunit ISO RGD PMID:19114557 RGD:10401087 NCBI chr18:25,037,668...25,068,380
Ensembl chr18:25,037,625...25,068,389
JBrowse link
G Ercc5 ERCC excision repair 5, endonuclease ISO RGD PMID:15082767 RGD:10401090 NCBI chr 9:50,928,847...50,970,962
Ensembl chr 9:50,925,619...50,970,955
JBrowse link
G Ercc6 ERCC excision repair 6, chromatin remodeling factor ISO ClinVar Annotator: match by OMIM:133540
ClinVar Annotator: match by term: Cockayne syndrome
CTD Direct Evidence: marker/mechanism
DNA:missense mutations:exon:p.D532G (c.1595A>G), p.L536W (c.1607T>G) (human)
ClinVar Annotator: match by term: Cockayne syndrome, type B
DNA:splice-site mutation, deletion:exon, intron:c.1293_1320del, c.2709 + 1G>T (human)
DNA:insertion: :c.1034_1035insT (human)
ClinVar
CTD
PMID:9443879 PMID:10739753 PMID:10767341 PMID:18414213 PMID:18628313 PMID:22466610 PMID:22466612 PMID:25440059 PMID:25741868 PMID:26972010 PMID:28492532 PMID:29572252, PMID:25463447, PMID:23599700, PMID:18446857 RGD:11567232, RGD:10401100, RGD:10401095 NCBI chr16:8,734,028...8,804,610
Ensembl chr16:8,734,035...8,804,610
JBrowse link
G Ercc8 ERCC excision repair 8, CSA ubiquitin ligase complex subunit ISO ClinVar Annotator: match by term: Cockayne syndrome
DNA:mutations:multiple (human)
CTD Direct Evidence: marker/mechanism
DNA:nonsense mutation: :p.Y322X (human)
ClinVar
CTD
PMID:14661080 PMID:15744458 PMID:19329487 PMID:19894250 PMID:21108394 PMID:22466610 PMID:22466612 PMID:24033266 PMID:25333069 PMID:28492532 PMID:29572252, PMID:22824526, PMID:19894250, PMID:21108394 RGD:7246919, RGD:11064547, RGD:10401108 NCBI chr 2:39,434,617...39,473,392
Ensembl chr 2:39,434,634...39,472,017
JBrowse link
G Ghr growth hormone receptor ISO RGD PMID:17326724 RGD:10003139 NCBI chr 2:53,149,225...53,413,954
Ensembl chr 2:53,150,370...53,413,638
JBrowse link
G Igf1 insulin-like growth factor 1 ISO RGD PMID:17326724 RGD:10003139 NCBI chr 7:28,412,123...28,491,815
Ensembl chr 7:28,412,198...28,486,609
JBrowse link
G Ndufaf2 NADH:ubiquinone oxidoreductase complex assembly factor 2 ISO ClinVar Annotator: match by term: Cockayne syndrome ClinVar PMID:14661080 PMID:15744458 PMID:19329487 PMID:19894250 PMID:21108394 PMID:24033266 PMID:25333069 PMID:28492532 PMID:29572252 NCBI chr 2:39,322,145...39,434,535
Ensembl chr 2:39,321,741...39,434,560
JBrowse link
G Xpa XPA, DNA damage recognition and repair factor ISO RGD PMID:19114557 RGD:10401087 NCBI chr 5:61,749,767...61,793,641
Ensembl chr 5:61,749,767...61,792,928
JBrowse link
Cockayne syndrome A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ercc8 ERCC excision repair 8, CSA ubiquitin ligase complex subunit ISO DNA:mutations:multiple (human)
ClinVar Annotator: match by term: Cockayne syndrome type A
ClinVar Annotator: match by term: Cockayne syndrome classical
ClinVar
OMIM
PMID:7664335 PMID:9338586 PMID:14661080 PMID:15744458 PMID:16199547 PMID:16865293 PMID:16949367 PMID:18414213 PMID:19309286 PMID:19329487 PMID:19384974 PMID:19894250 PMID:20571988 PMID:21108394 PMID:21681106 PMID:21924235 PMID:22099533 PMID:22829088 PMID:24033266 PMID:25333069 PMID:25525159 PMID:25741868 PMID:26173784 PMID:26616585 PMID:27004399 PMID:27597947 PMID:28492532 PMID:29057985 PMID:29422660 PMID:29531219 PMID:29572252 PMID:30200888 PMID:31319225 PMID:32048102, PMID:16865293 RGD:10401106 NCBI chr 2:39,434,617...39,473,392
Ensembl chr 2:39,434,634...39,472,017
JBrowse link
G Ndufaf2 NADH:ubiquinone oxidoreductase complex assembly factor 2 ISO ClinVar Annotator: match by term: Cockayne syndrome type A
ClinVar Annotator: match by term: Cockayne syndrome classical
ClinVar PMID:14661080 PMID:15744458 PMID:19329487 PMID:19384974 PMID:19894250 PMID:20571988 PMID:21108394 PMID:21681106 PMID:21924235 PMID:22099533 PMID:24033266 PMID:25333069 PMID:25741868 PMID:27597947 PMID:28492532 PMID:29572252 NCBI chr 2:39,322,145...39,434,535
Ensembl chr 2:39,321,741...39,434,560
JBrowse link
Cockayne syndrome B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ercc6 ERCC excision repair 6, chromatin remodeling factor ISO
IMP
ClinVar Annotator: match by term: Cockayne syndrome, type B
ClinVar Annotator: match by term: Cockayne syndrome B
ClinVar Annotator: match by term: Cockayne Syndrome, Type II
ClinVar
OMIM
PMID:887325 PMID:1339317 PMID:7063265 PMID:7264357 PMID:9150142 PMID:9443879 PMID:9536098 PMID:9777763 PMID:10196384 PMID:10767341 PMID:11809892 PMID:15486090 PMID:16199547 PMID:17576681 PMID:18414213 PMID:18446857 PMID:18628313 PMID:18784753 PMID:19894250 PMID:20122405 PMID:20456449 PMID:21143350 PMID:21228398 PMID:22466610 PMID:22483866 PMID:22661500 PMID:22904069 PMID:23311583 PMID:23422418 PMID:23428416 PMID:24033266 PMID:24154677 PMID:25136123 PMID:25251875 PMID:25326635 PMID:25741868 PMID:25820262 PMID:26206375 PMID:27004399 PMID:27356891 PMID:28170084 PMID:28440418 PMID:28492532 PMID:29203878 PMID:29572252 PMID:29915382 PMID:32860008, PMID:31644904 RGD:126925983 NCBI chr16:8,734,028...8,804,610
Ensembl chr16:8,734,035...8,804,610
JBrowse link
G Ercc6em1Cgen ERCC excision repair 6, chromatin remodeling factor; CRISPR/Cas9 induced mutant 1, Cgen IMP RGD PMID:31644904 RGD:126925983
Combined Pituitary Hormone Deficiency, 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chmp2b charged multivesicular body protein 2B ISO ClinVar Annotator: match by term: Combined Pituitary Hormone Deficiency, Recessive ClinVar PMID:26467025 PMID:28492532 NCBI chr11:2,666,405...2,692,213
Ensembl chr11:2,665,285...2,692,198
JBrowse link
G Lhx3 LIM homeobox 3 ISO ClinVar Annotator: match by term: Combined Pituitary Hormone Deficiency, Recessive ClinVar NCBI chr 3:3,653,861...3,662,509
Ensembl chr 3:3,654,755...3,661,810
JBrowse link
G Pou1f1 POU class 1 homeobox 1 ISO ClinVar Annotator: match by term: Combined Pituitary Hormone Deficiency, Recessive ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr11:2,645,659...2,662,581
Ensembl chr11:2,645,865...2,662,579
JBrowse link
G Prop1 PROP paired-like homeobox 1 ISO ClinVar Annotator: match by term: Pituitary hormone deficiency, combined 2
ClinVar Annotator: match by term: Combined Pituitary Hormone Deficiency, Recessive
ClinVar Annotator: match by OMIM:262600
OMIM
ClinVar
PMID:9462743 PMID:9661653 PMID:9745452 PMID:9768691 PMID:9824293 PMID:10323394 PMID:10599689 PMID:10946881 PMID:11134108 PMID:11549674 PMID:11549703 PMID:12153609 PMID:12519826 PMID:12859410 PMID:14614227 PMID:15126542 PMID:15472232 PMID:15531542 PMID:15670191 PMID:15941866 PMID:15963055 PMID:16131601 PMID:16544023 PMID:16735499 PMID:16984240 PMID:17526936 PMID:17526949 PMID:18157385 PMID:19128366 PMID:20381582 PMID:20981092 PMID:21132537 PMID:21863341 PMID:22024773 PMID:22111336 PMID:23624138 PMID:24033266 PMID:25557026 PMID:25741868 PMID:26467025 PMID:26608600 PMID:26886902 PMID:28492532 PMID:28734020 PMID:30266296 NCBI chr10:36,449,920...36,452,381
Ensembl chr10:36,449,920...36,452,378
JBrowse link
Combined Pituitary Hormone Deficiency, 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lhx3 LIM homeobox 3 ISO ClinVar Annotator: match by term: Winkelman Bethge Pfeiffer syndrome
ClinVar Annotator: match by term: Pituitary hormone deficiency, combined 3
ClinVar Annotator: match by OMIM:221750
OMIM
ClinVar
PMID:10835633 PMID:12780757 PMID:16394081 PMID:16940453 PMID:17327381 PMID:17438671 PMID:18407919 PMID:19837867 PMID:25741868 PMID:28492532 NCBI chr 3:3,653,861...3,662,509
Ensembl chr 3:3,654,755...3,661,810
JBrowse link
Combined Pituitary Hormone Deficiency, 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acbd6 acyl-CoA binding domain containing 6 ISO ClinVar Annotator: match by term: Pituitary hormone deficiency, combined 4
ClinVar Annotator: match by term: Short stature, pituitary and cerebellar defects and small sella turcica
ClinVar Annotator: match by term: Pituitary hormone deficiency, combined with or without cerebellar defects
ClinVar PMID:11567216 PMID:17201807 PMID:17527005 PMID:18445675 PMID:20534763 PMID:23990694 PMID:24033266 PMID:25741868 PMID:25910213 PMID:28492532 NCBI chr13:73,196,504...73,334,077
Ensembl chr13:73,196,571...73,334,077
JBrowse link
G Lhx4 LIM homeobox 4 ISO ClinVar Annotator: match by term: Short stature, pituitary and cerebellar defects and small sella turcica
ClinVar Annotator: match by term: Pituitary hormone deficiency, combined with or without cerebellar defects
ClinVar Annotator: match by term: Pituitary hormone deficiency, combined 4
ClinVar Annotator: match by OMIM:262700
OMIM
ClinVar
PMID:11567216 PMID:17201807 PMID:17527005 PMID:18445675 PMID:20534763 PMID:23029363 PMID:23990694 PMID:24033266 PMID:25741868 PMID:25910213 PMID:28492532 NCBI chr13:73,348,874...73,400,416
Ensembl chr13:73,348,842...73,400,416
JBrowse link
congenital hypothyroidism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arpc5 actin related protein 2/3 complex, subunit 5 IEP protein:decreased expression:frontal cortex (rat) RGD PMID:23459330 RGD:11049475 NCBI chr13:70,174,970...70,183,879
Ensembl chr13:70,174,936...70,183,879
JBrowse link
G Atp5pd ATP synthase peripheral stalk subunit d IEP protein:altered expression:cerebral cortex (rat) RGD PMID:21575372 RGD:11049155 NCBI chr10:103,967,340...103,972,552
Ensembl chr10:103,967,312...103,972,668
JBrowse link
G Bglap bone gamma-carboxyglutamate protein IDA mRNA,protein:decreased expression:skull, serum RGD PMID:7920889 RGD:6483557 NCBI chr 2:187,741,770...187,748,445
Ensembl chr 2:187,741,770...187,742,747
JBrowse link
G Duox2 dual oxidase 2 ISO ClinVar Annotator: match by term: Congenital hypothyroidism
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:12110737 PMID:16134168 PMID:16322276 PMID:16608528 PMID:17121535 PMID:19789206 PMID:20972728 PMID:21565790 PMID:24033266 PMID:24423310 PMID:25741868 PMID:26990548 PMID:27557340 PMID:27821020 PMID:28492532 PMID:28666341 PMID:30240412, PMID:12110737 RGD:734905 NCBI chr 3:114,218,187...114,237,808
Ensembl chr 3:114,218,193...114,235,933
JBrowse link
G Duoxa2 dual oxidase maturation factor 2 ISO ClinVar Annotator: match by term: Congenital hypothyroidism ClinVar PMID:28492532 NCBI chr 3:114,236,718...114,240,086
Ensembl chr 3:114,236,718...114,240,086
JBrowse link
G Egr1 early growth response 1 IEP RGD PMID:23079472 RGD:10395304 NCBI chr18:27,657,903...27,660,101
Ensembl chr18:27,657,628...27,661,429
JBrowse link
G Foxe1 forkhead box E1 ISS MouseDO NCBI chr 5:61,954,549...61,957,357
Ensembl chr 5:61,954,549...61,957,357
JBrowse link
G G6pd glucose-6-phosphate dehydrogenase IEP protein:decreased expression:hippocampus RGD PMID:23693027 RGD:10449124 NCBI chr  X:156,274,800...156,293,935
Ensembl chr  X:156,274,800...156,293,926
JBrowse link
G Gh1 growth hormone 1 treatment IEP RGD PMID:21162131 RGD:10003146 NCBI chr10:94,486,204...94,488,181
Ensembl chr10:94,486,205...94,488,180
JBrowse link
G Ghr growth hormone receptor treatment IEP RGD PMID:21162131 RGD:10003146 NCBI chr 2:53,149,225...53,413,954
Ensembl chr 2:53,150,370...53,413,638
JBrowse link
G Igf1 insulin-like growth factor 1 IEP protein:decreased expression:serum (rat) RGD PMID:1718729 RGD:12910128 NCBI chr 7:28,412,123...28,491,815
Ensembl chr 7:28,412,198...28,486,609
JBrowse link
G Igsf1 immunoglobulin superfamily, member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23143598 NCBI chr  X:136,792,637...136,808,107
Ensembl chr  X:136,792,643...136,807,885
JBrowse link
G Inhbb inhibin subunit beta B IEP mRNA:decreased expression:testes (rat) RGD PMID:7819453 RGD:9743921 NCBI chr13:35,436,532...35,442,222
Ensembl chr13:35,436,532...35,442,222
JBrowse link
G Iyd iodotyrosine deiodinase ISO ClinVar Annotator: match by term: Congenital hypothyroidism ClinVar NCBI chr 1:40,086,513...40,100,966
Ensembl chr 1:40,086,470...40,101,840
JBrowse link
G Nefh neurofilament heavy chain IDA protein:decreased expression, increased phosphorylation RGD PMID:18845185 RGD:9693732 NCBI chr14:85,181,572...85,191,557
Ensembl chr14:85,181,572...85,191,557
JBrowse link
G Nefl neurofilament light chain IDA protein:decreased expression, increased phosphorylation RGD PMID:18845185 RGD:9693732 NCBI chr15:44,799,378...44,803,251
Ensembl chr15:44,799,334...44,804,574
JBrowse link
G Nefm neurofilament medium chain IDA protein:decreased expression, increased phosphorylation RGD PMID:18845185 RGD:9693732 NCBI chr15:44,855,307...44,860,604
Ensembl chr15:44,855,310...44,860,604
JBrowse link
G Ngfr nerve growth factor receptor treatment IEP RGD PMID:23312094 RGD:10414076 NCBI chr10:83,389,828...83,408,061
Ensembl chr10:83,389,847...83,408,061
JBrowse link
G Pax8 paired box 8 ISO
ISS
nongoitrous congenital hypothyroidism 2, OMIM:218700
ClinVar Annotator: match by term: Congenital hypothyroidism
ClinVar
MouseDO
PMID:16763387 PMID:25146893 PMID:26362610, PMID:9590296 RGD:1600298 NCBI chr 3:1,527,316...1,586,019
Ensembl chr 3:1,527,279...1,584,946
JBrowse link
G Ppargc1a PPARG coactivator 1 alpha IEP mRNA:decreased expression:cerebellum (rat) RGD PMID:20515651 RGD:10059677 NCBI chr14:63,095,291...63,190,688
Ensembl chr14:63,095,720...63,187,009
JBrowse link
G Runx2 RUNX family transcription factor 2 ISS MouseDO NCBI chr 9:18,564,743...18,773,092
Ensembl chr 9:18,564,927...18,773,092
JBrowse link
G Slc26a4 solute carrier family 26 member 4 ISO ClinVar Annotator: match by term: Congenital hypothyroidism ClinVar NCBI chr 6:50,809,103...50,848,443
Ensembl chr 6:50,808,923...50,846,965
JBrowse link
G Slc26a7 solute carrier family 26 member 7 ISO ClinVar Annotator: match by term: Congenital hypothyroidism ClinVar PMID:31372509 NCBI chr 5:27,986,656...28,131,294
Ensembl chr 5:27,986,663...28,177,340
JBrowse link
G Slc5a5 solute carrier family 5 member 5 ISO iodide transport defect, OMIM:274400;DNA:point mutation:exon:T354P
ClinVar Annotator: match by term: Congenital hypothyroidism
ClinVar PMID:3998954 PMID:10487695, PMID:9171822 RGD:1624273 NCBI chr16:20,297,414...20,307,401
Ensembl chr16:20,297,414...20,307,400
JBrowse link
G Tg thyroglobulin ISS
ISO
ClinVar Annotator: match by term: Congenital hypothyroidism MouseDO
ClinVar
PMID:8325944 PMID:9588493 PMID:10404833 PMID:11484898 PMID:14764776 PMID:15769978 PMID:16403815 PMID:17532758 PMID:20410234 PMID:21128992 PMID:23164529 PMID:28492532 NCBI chr 7:107,467,260...107,652,897
Ensembl chr 7:107,467,260...107,652,899
JBrowse link
G Tpo thyroid peroxidase ISO total iodide organification defect, OMIM:274500
ClinVar Annotator: match by term: Congenital hypothyroidism
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:12564727 PMID:14751036 PMID:16187919 PMID:17381485 PMID:25741868, PMID:7550241 RGD:1599648 NCBI chr 6:49,020,918...49,089,855
Ensembl chr 6:49,021,044...49,089,855
JBrowse link
G Trhr thyrotropin releasing hormone receptor ISS MouseDO NCBI chr 7:83,113,641...83,153,520
Ensembl chr 7:83,113,672...83,153,519
JBrowse link
G Tshb thyroid stimulating hormone subunit beta ISO ClinVar Annotator: match by term: Congenital hypothyroidism ClinVar PMID:25741868 NCBI chr 2:205,207,799...205,215,199
Ensembl chr 2:205,207,799...205,212,681
JBrowse link
G Tshr thyroid stimulating hormone receptor ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital hypothyroidism
CTD
ClinVar
PMID:11442002 PMID:12629076 PMID:15693879 PMID:17526952 PMID:19158199 PMID:19506388 PMID:21677043 PMID:21707688 PMID:21714469 PMID:22405933 PMID:22876533 PMID:23926367 PMID:24033266 PMID:24895636 PMID:25741868 PMID:26709262 PMID:27084275 PMID:27637299 PMID:28444304 PMID:28455095 NCBI chr 6:115,170,290...115,306,871
Ensembl chr 6:115,170,865...115,306,871
JBrowse link
G Tubb1 tubulin, beta 1 class VI ISO ClinVar Annotator: match by term: Congenital hypothyroidism ClinVar NCBI chr 3:172,550,252...172,558,089
Ensembl chr 3:172,550,258...172,558,114
JBrowse link
Congenital Nongoitrous Hypothyroidism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cep128 centrosomal protein 128 ISO ClinVar Annotator: match by term: TSH RESISTANCE ClinVar PMID:1955520 PMID:9385128 PMID:10037069 PMID:17062880 PMID:24728327 PMID:25741868 PMID:28492532 NCBI chr 6:114,759,474...115,158,004
Ensembl chr 6:114,759,474...115,157,854
JBrowse link
G Tshr thyroid stimulating hormone receptor ISO ClinVar Annotator: match by term: TSH RESISTANCE ClinVar PMID:1955520 PMID:9385128 PMID:10037069 PMID:17062880 PMID:24728327 PMID:25741868 PMID:28492532 NCBI chr 6:115,170,290...115,306,871
Ensembl chr 6:115,170,865...115,306,871
JBrowse link
congenital nongoitrous hypothyroidism 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cep128 centrosomal protein 128 ISO ClinVar Annotator: match by term: HYPOTHYROIDISM, NONAUTOIMMUNE
ClinVar Annotator: match by term: Hypothyroidism, congenital, nongoitrous, 1
ClinVar PMID:1955520 PMID:8964822 PMID:9385128 PMID:10037069 PMID:12050212 PMID:17062880 PMID:24728327 PMID:25741868 PMID:28492532 NCBI chr 6:114,759,474...115,158,004
Ensembl chr 6:114,759,474...115,157,854
JBrowse link
G Tshr thyroid stimulating hormone receptor ISO ClinVar Annotator: match by term: Hypothyroidism, congenital, nongoitrous, 1
ClinVar Annotator: match by term: HYPOTHYROIDISM, NONAUTOIMMUNE
ClinVar
OMIM
PMID:1955520 PMID:7528344 PMID:8954020 PMID:8964822 PMID:9100579 PMID:9185526 PMID:9329388 PMID:9385128 PMID:9589634 PMID:9589691 PMID:10037069 PMID:10720030 PMID:10870027 PMID:11095460 PMID:11442002 PMID:12050212 PMID:12629076 PMID:14725684 PMID:15514085 PMID:15693879 PMID:16756469 PMID:17062880 PMID:17526952 PMID:17953807 PMID:18379122 PMID:18850313 PMID:19158199 PMID:19221175 PMID:19240155 PMID:19506388 PMID:19820021 PMID:20652618 PMID:20718767 PMID:20736161 PMID:21586576 PMID:21677043 PMID:21707688 PMID:21714469 PMID:22049173 PMID:22359649 PMID:22405933 PMID:22876533 PMID:23356285 PMID:23535966 PMID:23926367 PMID:24033266 PMID:24728327 PMID:24895636 PMID:25248169 PMID:25557138 PMID:25741868 PMID:26709262 PMID:27060741 PMID:27084275 PMID:27255745 PMID:27578510 PMID:27637299 PMID:28444304 PMID:28455095 PMID:28492532 PMID:28561265 NCBI chr 6:115,170,290...115,306,871
Ensembl chr 6:115,170,865...115,306,871
JBrowse link
congenital nongoitrous hypothyroidism 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pax8 paired box 8 ISO ClinVar Annotator: match by term: Hypothyroidism, congenital, nongoitrous, 2
ClinVar Annotator: match by term: Thyroid, ectopic
OMIM
ClinVar
PMID:9382140 PMID:9523167 PMID:9590296 PMID:11232006 PMID:11502839 PMID:12116225 PMID:15356023 PMID:15718293 PMID:17437516 PMID:17980011 PMID:20302910 PMID:23647375 PMID:25741868 PMID:28060725 PMID:28492532 NCBI chr 3:1,527,316...1,586,019
Ensembl chr 3:1,527,279...1,584,946
JBrowse link
congenital nongoitrous hypothyroidism 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tshb thyroid stimulating hormone subunit beta ISO ClinVar Annotator: match by term: Pituitary cretinism
ClinVar Annotator: match by term: HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 4
OMIM
ClinVar
PMID:1971148 PMID:2792087 PMID:8636437 PMID:9589689 PMID:11297590 PMID:11549695 PMID:11788671 PMID:12364478 PMID:15292359 PMID:24423284 PMID:25741868 PMID:25950606 PMID:26416826 PMID:27387040 PMID:28492532 NCBI chr 2:205,207,799...205,215,199
Ensembl chr 2:205,207,799...205,212,681
JBrowse link
congenital nongoitrous hypothyroidism 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nkx2-5 NK2 homeobox 5 ISO ClinVar Annotator: match by term: Hypothyroidism, congenital, nongoitrous, 5 OMIM
ClinVar
PMID:10587520 PMID:10903346 PMID:11714651 PMID:14607454 PMID:16418214 PMID:17891434 PMID:19073351 PMID:19464101 PMID:19533775 PMID:19948535 PMID:20456451 PMID:20807224 PMID:23285148 PMID:23661673 PMID:24033266 PMID:24376681 PMID:25741868 PMID:28492532 NCBI chr10:16,635,989...16,638,758
Ensembl chr10:16,635,989...16,638,764
JBrowse link
congenital nongoitrous hypothyroidism 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nr1d1 nuclear receptor subfamily 1, group D, member 1 ISO ClinVar Annotator: match by term: Hypothyroidism, congenital, nongoitrous, 6 ClinVar PMID:11075809 PMID:25741868 NCBI chr10:86,683,875...86,690,815
Ensembl chr10:86,683,875...86,690,815
JBrowse link
G Thra thyroid hormone receptor alpha ISO ClinVar Annotator: match by term: Hypothyroidism, congenital, nongoitrous, 6 OMIM
ClinVar
PMID:11075809 PMID:22168587 PMID:22494134 PMID:25326635 PMID:25670821 PMID:25741868 PMID:28492532 NCBI chr10:86,657,285...86,684,935
Ensembl chr10:86,657,285...86,684,933
JBrowse link
congenital nongoitrous hypothyroidism 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trhr thyrotropin releasing hormone receptor ISO ClinVar Annotator: match by term: HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 7 OMIM
ClinVar
PMID:9141550 PMID:19213692 PMID:25741868 PMID:26735259 PMID:28419241 NCBI chr 7:83,113,641...83,153,520
Ensembl chr 7:83,113,672...83,153,519
JBrowse link
congenital nongoitrous hypothyroidism 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tbl1x transducin (beta)-like 1 X-linked ISO ClinVar Annotator: match by term: HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 8 OMIM
ClinVar
PMID:25741868 PMID:27603907 PMID:30591955 NCBI chr  X:44,959,883...44,988,551
Ensembl chr  X:44,830,849...44,988,551
JBrowse link
congenital nongoitrous hypothyroidism 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Irs4 insulin receptor substrate 4 ISO ClinVar Annotator: match by term: Hypothyroidism, congenital, nongoitrous, 9
ClinVar Annotator: match by term: HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 9
OMIM
ClinVar
PMID:25741868 PMID:30061370 NCBI chr  X:113,003,824...113,018,088 JBrowse link
De Sanctis-Cacchione syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ercc6 ERCC excision repair 6, chromatin remodeling factor ISO ClinVar Annotator: match by term: DE SANCTIS-CACCHIONE SYNDROME
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:887325 PMID:1339317 PMID:7063265 PMID:9150142 PMID:9443879 PMID:9536098 PMID:10196384 PMID:10767341 PMID:11809892 PMID:16199547 PMID:17576681 PMID:18414213 PMID:18628313 PMID:18784753 PMID:19894250 PMID:20122405 PMID:20456449 PMID:21143350 PMID:21228398 PMID:22661500 PMID:22904069 PMID:23311583 PMID:23422418 PMID:23428416 PMID:24033266 PMID:24154677 PMID:25136123 PMID:25326635 PMID:25356239 PMID:25463447 PMID:25741868 PMID:25820262 PMID:26206375 PMID:26218421 PMID:26620705 PMID:27004399 PMID:27186691 PMID:27356891 PMID:28170084 PMID:28440418 PMID:28492532 PMID:29203878 PMID:29572252 PMID:29915382 NCBI chr16:8,734,028...8,804,610
Ensembl chr16:8,734,035...8,804,610
JBrowse link
Desbuquois dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cant1 calcium activated nucleotidase 1 ISO ClinVar Annotator: match by term: Desbuquois Dysplasia
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
NCBI chr10:107,432,500...107,445,634
Ensembl chr10:107,432,506...107,445,522
JBrowse link
G Xylt1 xylosyltransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:186,939,698...187,264,758
Ensembl chr 1:187,149,453...187,261,632
JBrowse link
Desbuquois Dysplasia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cant1 calcium activated nucleotidase 1 ISO ClinVar Annotator: match by term: Desbuquois dysplasia 1 OMIM
ClinVar
PMID:19853239 PMID:20358597 PMID:20358610 PMID:21037275 PMID:21412251 PMID:21654728 PMID:22539336 PMID:25741868 PMID:28492532 PMID:28742282 PMID:31988067 NCBI chr10:107,432,500...107,445,634
Ensembl chr10:107,432,506...107,445,522
JBrowse link
G Xylt1 xylosyltransferase 1 ISO ClinVar Annotator: match by term: Desbuquois dysplasia 1 ClinVar PMID:9536098 PMID:16571645 PMID:17576681 PMID:24581741 PMID:25741868 PMID:26601923 PMID:28462984 PMID:28492532 NCBI chr 1:186,939,698...187,264,758
Ensembl chr 1:187,149,453...187,261,632
JBrowse link
Desbuquois Dysplasia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Xylt1 xylosyltransferase 1 ISO ClinVar Annotator: match by term: Desbuquois dysplasia 2 ClinVar
OMIM
PMID:16571645 PMID:22711505 PMID:23982343 PMID:24581741 PMID:25741868 PMID:28462984 PMID:28492532 PMID:30554721 NCBI chr 1:186,939,698...187,264,758
Ensembl chr 1:187,149,453...187,261,632
JBrowse link
diastrophic dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc26a2 solute carrier family 26 member 2 ISO ClinVar Annotator: match by term: Diastrophic dwarfism
ClinVar Annotator: match by term: Diastrophic dysplasia
DNA:deletion, insertion, missense mutations:promoter, cds:c.¿¿¿26 + 2T > C, p.R279W, 1045¿¿¿1047delGTT(human)
ClinVar Annotator: match by OMIM:222600
OMIM
ClinVar
PMID:702237 PMID:4644462 PMID:7923357 PMID:8528239 PMID:8571951 PMID:8702127 PMID:8723083 PMID:8723100 PMID:8931695 PMID:9342225 PMID:10465113 PMID:10466420 PMID:10482955 PMID:11241838 PMID:11303514 PMID:11448940 PMID:11558903 PMID:11565064 PMID:12220459 PMID:12525546 PMID:12966518 PMID:15294877 PMID:15316973 PMID:16642506 PMID:17393463 PMID:18708426 PMID:18925670 PMID:20219950 PMID:20301524 PMID:20525296 PMID:20592910 PMID:20981092 PMID:21077202 PMID:21077204 PMID:21155763 PMID:21228398 PMID:21922596 PMID:22052783 PMID:23369989 PMID:23840040 PMID:24033266 PMID:24598000 PMID:25741868 PMID:26752647 PMID:27065010 PMID:28492532 PMID:29024831 PMID:31880411, PMID:10482955, PMID:15703192 RGD:13208932, RGD:13208867 NCBI chr18:56,518,999...56,534,539
Ensembl chr18:56,520,740...56,534,415
JBrowse link
Diastrophic Dysplasia, Broad Bone-Platyspondylic Variant term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc26a2 solute carrier family 26 member 2 ISO ClinVar Annotator: match by null ClinVar PMID:702237 PMID:8723083 PMID:10466420 PMID:12220459 NCBI chr18:56,518,999...56,534,539
Ensembl chr18:56,520,740...56,534,415
JBrowse link
Dyggve-Melchior-Clausen disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dym dymeclin ISO ClinVar Annotator: match by term: Dyggve-Melchior-Clausen syndrome
ClinVar Annotator: match by OMIM:223800
OMIM
ClinVar
PMID:12161821 PMID:12491225 PMID:12554689 PMID:16097008 PMID:25741868 PMID:28492532 NCBI chr18:70,996,074...71,313,033
Ensembl chr18:70,996,044...71,313,084
JBrowse link
ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Grhl2 grainyhead-like transcription factor 2 ISO ClinVar Annotator: match by term: Ectodermal dysplasia/short stature syndrome ClinVar
OMIM
PMID:25152456 PMID:25741868 NCBI chr 7:76,058,623...76,197,360
Ensembl chr 7:76,059,386...76,197,856
JBrowse link
familial thyroid dyshormonogenesis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Duox2 dual oxidase 2 ISO ClinVar Annotator: match by term: Familial thyroid dyshormonogenesis ClinVar PMID:12110737 PMID:16322276 PMID:20972728 PMID:21565790 PMID:21900383 PMID:23457309 PMID:24033266 PMID:24423310 PMID:25248169 PMID:25741868 PMID:26709262 PMID:26990548 PMID:27821020 PMID:28492532 PMID:28666341 PMID:30240412 NCBI chr 3:114,218,187...114,237,808
Ensembl chr 3:114,218,193...114,235,933
JBrowse link
G Slc5a5 solute carrier family 5 member 5 ISO ClinVar Annotator: match by term: Thyroid Hormonogenesis Defect ClinVar NCBI chr16:20,297,414...20,307,401
Ensembl chr16:20,297,414...20,307,400
JBrowse link
G Tg thyroglobulin ISO ClinVar Annotator: match by term: Thyroid dyshormonogenesis ClinVar NCBI chr 7:107,467,260...107,652,897
Ensembl chr 7:107,467,260...107,652,899
JBrowse link
fibrochondrogenesis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col11a1 collagen type XI alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:216,863,423...217,056,523
Ensembl chr 2:216,863,428...217,056,523
JBrowse link
G Col11a2 collagen type XI alpha 2 chain ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr20:3,829,324...3,859,022
Ensembl chr20:3,830,164...3,859,018
JBrowse link
fibrochondrogenesis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col11a1 collagen type XI alpha 1 chain ISO ClinVar Annotator: match by term: Fibrochondrogenesis 1 OMIM
ClinVar
PMID:9536098 PMID:10486316 PMID:15922184 PMID:17576681 PMID:17999364 PMID:21035103 PMID:23967202 PMID:25240749 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30245029 NCBI chr 2:216,863,423...217,056,523
Ensembl chr 2:216,863,428...217,056,523
JBrowse link
G Col11a2 collagen type XI alpha 2 chain ISO ClinVar Annotator: match by term: Fibrochondrogenesis 1 ClinVar PMID:24033266 PMID:25741868 NCBI chr20:3,829,324...3,859,022
Ensembl chr20:3,830,164...3,859,018
JBrowse link
fibrochondrogenesis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col11a2 collagen type XI alpha 2 chain ISO ClinVar Annotator: match by OMIM:614524
ClinVar Annotator: match by term: Fibrochondrogenesis 2
ClinVar
OMIM
PMID:15922184 PMID:22246659 PMID:22938506 PMID:23967202 PMID:24033266 PMID:25240749 PMID:25741868 PMID:26467025 PMID:26691295 PMID:28492532 PMID:30311386 NCBI chr20:3,829,324...3,859,022
Ensembl chr20:3,830,164...3,859,018
JBrowse link
geroderma osteodysplasticum term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gorab golgin, RAB6-interacting ISO ClinVar Annotator: match by term: Geroderma osteodysplastica
ClinVar Annotator: match by OMIM:231070
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:631850 PMID:18997784 PMID:19681135 PMID:25741868 PMID:28492532 NCBI chr13:81,682,207...81,698,827
Ensembl chr13:81,682,018...81,698,833
JBrowse link
growth hormone insensitivity syndrome with immune dysregulation 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Stat5b signal transducer and activator of transcription 5B ISO ClinVar Annotator: match by term: Growth hormone insensitivity with immune dysregulation 1, autosomal recessive
ClinVar Annotator: match by term: Laron syndrome due to postreceptor defect
ClinVar Annotator: match by term: Growth hormone insensitivity with immunodeficiency
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:245590
OMIM
ClinVar
CTD
PMID:9536098 PMID:13679528 PMID:15827093 PMID:16199547 PMID:16464942 PMID:16787985 PMID:17030597 PMID:17576681 PMID:24033266 PMID:24825865 PMID:24972766 PMID:25586472 PMID:25741868 PMID:26703237 PMID:27600764 PMID:28492532 PMID:29200404 PMID:29844444 NCBI chr10:88,686,207...88,712,313
Ensembl chr10:88,686,207...88,754,829
JBrowse link
growth hormone insensitivity syndrome with immune dysregulation 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Stat5b signal transducer and activator of transcription 5B ISO ClinVar Annotator: match by term: GROWTH HORMONE INSENSITIVITY SYNDROME WITH IMMUNE DYSREGULATION 2, AUTOSOMAL DOMINANT OMIM
ClinVar
PMID:29844444 NCBI chr10:88,686,207...88,712,313
Ensembl chr10:88,686,207...88,754,829
JBrowse link
Growth Retardation, Developmental Delay, Coarse Facies, and Early Death term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fto FTO, alpha-ketoglutarate dependent dioxygenase ISO ClinVar Annotator: match by term: Growth retardation, developmental delay, coarse facies, and early death
ClinVar Annotator: match by OMIM:612938
OMIM
ClinVar
PMID:19559399 PMID:19833892 PMID:20299471 PMID:23505181 PMID:23825611 PMID:24289790 PMID:25741868 PMID:26378117 PMID:26820768 PMID:27105045 PMID:28492532 NCBI chr19:16,774,549...17,115,098
Ensembl chr19:16,772,744...17,115,113
JBrowse link
G Rpgrip1l Rpgrip1-like ISO ClinVar Annotator: match by term: Growth retardation, developmental delay, coarse facies, and early death ClinVar NCBI chr19:17,115,266...17,208,055
Ensembl chr19:17,115,412...17,208,055
JBrowse link
hypochondroplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgfr3 fibroblast growth factor receptor 3 ISO ClinVar Annotator: match by term: Hypochondroplasia
ClinVar Annotator: match by OMIM:146000
DNA:mutation:cds:c.1988 A>C(p.K650T)(human)
OMIM
ClinVar
PMID:1908846 PMID:4697848 PMID:7670477 PMID:7773297 PMID:8078586 PMID:8589686 PMID:8589699 PMID:8723101 PMID:8723106 PMID:8841188 PMID:8858131 PMID:9042914 PMID:9107244 PMID:9279753 PMID:9279764 PMID:9450868 PMID:9452043 PMID:9525367 PMID:9580776 PMID:9585583 PMID:9600744 PMID:9672519 PMID:9677066 PMID:9842995 PMID:9843059 PMID:9950359 PMID:10073901 PMID:10094188 PMID:10215410 PMID:10360392 PMID:10360393 PMID:10361991 PMID:10395236 PMID:10471491 PMID:10696568 PMID:10777366 PMID:10861678 PMID:11038465 PMID:11055896 PMID:11241532 PMID:11314002 PMID:11424131 PMID:11529856 PMID:11746040 PMID:11754059 PMID:11879084 PMID:12707965 PMID:12833394 PMID:14613973 PMID:15241680 PMID:15772091 PMID:15915095 PMID:16841094 PMID:16912704 PMID:17384684 PMID:17552943 PMID:17875876 PMID:17895900 PMID:18000903 PMID:18198189 PMID:18252861 PMID:18583390 PMID:18642369 PMID:19215249 PMID:19381019 PMID:19749790 PMID:20453470 PMID:21510009 PMID:21739570 PMID:22016144 PMID:22045636 PMID:22339077 PMID:22622662 PMID:23149434 PMID:23165795 PMID:23726269 PMID:23972473 PMID:24715719 PMID:24728327 PMID:25157968 PMID:25505835 PMID:25606676 PMID:25614871 PMID:25691418 PMID:25741868 PMID:25777271 PMID:25809207 PMID:26220993 PMID:26380986 PMID:26467025 PMID:26619011 PMID:26740388 PMID:26818779 PMID:26887047 PMID:28492532 PMID:32238909, PMID:18583390 RGD:11568026 NCBI chr14:82,272,322...82,287,739
Ensembl chr14:82,273,070...82,287,706
JBrowse link
Idiopathic Short Stature, Autosomal term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ghr growth hormone receptor ISO ClinVar Annotator: match by term: Short stature, idiopathic, autosomal
ClinVar Annotator: match by OMIM:604271
OMIM
ClinVar
PMID:7565946 PMID:8504296 PMID:9140387 PMID:9814495 PMID:10984309 PMID:12217488 PMID:17274879 PMID:17462934 PMID:21525302 PMID:21846964 PMID:21900382 PMID:24150201 PMID:25741868 PMID:26467025 PMID:27408750 PMID:28492532 PMID:28498917 NCBI chr 2:53,149,225...53,413,954
Ensembl chr 2:53,150,370...53,413,638
JBrowse link
G Ghsr growth hormone secretagogue receptor ISO ClinVar Annotator: match by term: Short stature, idiopathic, autosomal ClinVar NCBI chr 2:113,065,953...113,071,265
Ensembl chr 2:113,066,885...113,070,261
JBrowse link
G Igfals insulin-like growth factor binding protein, acid labile subunit ISO DNA:missense mutation:exon:p.L127P (c.380T>C) (human) RGD PMID:23488611 RGD:12910853 NCBI chr10:14,240,308...14,243,554
Ensembl chr10:14,240,219...14,243,597
JBrowse link
G Spag17 sperm associated antigen 17 ISO DNA:snp:enhancer:C>G (rs17038182) (human) RGD PMID:19893584 RGD:11535959 NCBI chr 2:202,159,659...202,452,361
Ensembl chr 2:202,200,797...202,443,026
JBrowse link
Intellectual Developmental Disorder with Abnormal Behavior, Microcephaly, and Short Stature term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pus7 pseudouridine synthase 7 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER WITH ABNORMAL BEHAVIOR, MICROCEPHALY, AND SHORT STATURE OMIM
ClinVar
PMID:25741868 PMID:30526862 PMID:30778726 NCBI chr 4:7,889,727...7,931,357
Ensembl chr 4:7,889,869...7,930,706
JBrowse link
intellectual developmental disorder with short stature and behavioral abnormalities term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Iqsec1 IQ motif and Sec7 domain ArfGEF 1 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE AND BEHAVIORAL ABNORMALITIES
ClinVar Annotator: match by term: Intellectual developmental disorder with short stature and behavioral abnormalities
ClinVar
OMIM
PMID:25741868 PMID:31607425 NCBI chr 4:123,400,717...123,454,656
Ensembl chr 4:123,307,624...123,453,478
JBrowse link
isolated growth hormone deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cep85l centrosomal protein 85-like ISO ClinVar Annotator: match by term: Growth hormone deficiency ClinVar NCBI chr20:34,574,043...34,743,142
Ensembl chr20:34,575,950...34,684,418
JBrowse link
G Gh1 growth hormone 1 ISO
IAGP
DNA:deletions: :
ClinVar Annotator: match by term: Growth hormone deficiency
ClinVar PMID:9152628 PMID:12655556 PMID:12655557 PMID:13572267 PMID:15001589 PMID:16741161 PMID:17223997 PMID:18160466 PMID:18473352 PMID:18785993 PMID:18950677 PMID:23182822 PMID:24635352 PMID:25741868 PMID:26467025 PMID:28492532, PMID:27114065, PMID:2752987 RGD:12904703, RGD:1578505 NCBI chr10:94,486,204...94,488,181
Ensembl chr10:94,486,205...94,488,180
JBrowse link
G Gh1sdr IAGP RGD PMID:2752987 RGD:1578505
G Ghr growth hormone receptor ISO Laron syndrome,OMIM:262500;DNA:deletion RGD PMID:2813379 RGD:1601315 NCBI chr 2:53,149,225...53,413,954
Ensembl chr 2:53,150,370...53,413,638
JBrowse link
G Ghrhr growth hormone releasing hormone receptor ISO
IAGP
isolated growth hormone deficiency IB,OMIM:262400;DNA:point mutation:exon:E72X
ClinVar Annotator: match by term: Isolated growth hormone deficiency
DNA:deletion
ClinVar PMID:8528260, PMID:9845677 RGD:1601337, RGD:1601338 NCBI chr 4:85,587,321...85,602,389
Ensembl chr 4:85,588,595...85,601,666
JBrowse link
G Ghsr growth hormone secretagogue receptor IEP mRNA:increased expression:pituitary: RGD PMID:9822798 RGD:12904721 NCBI chr 2:113,065,953...113,071,265
Ensembl chr 2:113,066,885...113,070,261
JBrowse link
G Hpca hippocalcin ISO protein:altered expression:cerebral cortex, cerebellum, hippocampus (mouse) RGD PMID:7882001 RGD:9693682 NCBI chr 5:147,295,124...147,305,757
Ensembl chr 5:147,294,820...147,303,346
JBrowse link
G Igfals insulin-like growth factor binding protein, acid labile subunit ISO protein:decreased expression:serum RGD PMID:11248743 RGD:12910859 NCBI chr10:14,240,308...14,243,554
Ensembl chr10:14,240,219...14,243,597
JBrowse link
G Pln phospholamban ISO ClinVar Annotator: match by term: Growth hormone deficiency ClinVar NCBI chr20:34,633,157...34,642,904
Ensembl chr20:34,633,157...34,642,904
JBrowse link
G Pou1f1 POU class 1 homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9392392 NCBI chr11:2,645,659...2,662,581
Ensembl chr11:2,645,865...2,662,579
JBrowse link
G Tg thyroglobulin IAGP RGD PMID:11089535, PMID:3366187 RGD:730133, RGD:12880373 NCBI chr 7:107,467,260...107,652,897
Ensembl chr 7:107,467,260...107,652,899
JBrowse link
G Tgrdw thyroglobulin; rdw mutant IAGP RGD PMID:11089535, PMID:3366187 RGD:730133, RGD:12880373
isolated growth hormone deficiency type IA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Brca2 BRCA2, DNA repair associated ISO ClinVar Annotator: match by term: Primordial dwarfism ClinVar PMID:24389050 PMID:25558065 NCBI chr12:503,660...544,754
Ensembl chr12:504,007...544,748
JBrowse link
G Cript CXXC repeat containing interactor of PDZ3 domain ISO ClinVar Annotator: match by synonym: Primordial Dwarfism
ClinVar Annotator: match by term: Primordial Dwarfism
ClinVar PMID:24389050 PMID:25558065 NCBI chr 6:10,594,147...10,602,103
Ensembl chr 6:10,594,122...10,602,085
JBrowse link
G Dna2 DNA replication helicase/nuclease 2 ISO DNA:mutation:cds:
ClinVar Annotator: match by term: Pituitary dwarfism 1
ClinVar PMID:24389050 PMID:25558065, PMID:24389050 RGD:8694132
G Gh1 growth hormone 1 ISO ClinVar Annotator: match by OMIM:262400
ClinVar Annotator: match by term: Pituitary dwarfism 1
ClinVar Annotator: match by term: PITUITARY DWARFISM I
DNA:deletion: :
ClinVar
OMIM
PMID:2347891 PMID:8364549 PMID:8496314 PMID:9152628 PMID:12655557 PMID:15001589 PMID:18160466 PMID:18950677 PMID:25741868 PMID:26467025 PMID:28492532, PMID:14594175 RGD:12904729 NCBI chr10:94,486,204...94,488,181
Ensembl chr10:94,486,205...94,488,180
JBrowse link
G Ghrh growth hormone releasing hormone ISS OMIM:262400 MouseDO NCBI chr 3:153,449,124...153,468,794
Ensembl chr 3:153,449,125...153,468,794
JBrowse link
G Poc1a POC1 centriolar protein A ISO ClinVar Annotator: match by term: Primordial dwarfism ClinVar PMID:22840364 PMID:25558065 PMID:25741868 NCBI chr 8:114,982,764...115,050,844
Ensembl chr 8:114,986,326...115,050,728
JBrowse link
G Xrcc4 X-ray repair cross complementing 4 ISO ClinVar Annotator: match by term: Pituitary dwarfism 1 ClinVar PMID:24389050 PMID:25558065 PMID:25728776 PMID:25741868 PMID:26255102 NCBI chr 2:18,674,496...18,927,463
Ensembl chr 2:18,677,220...18,927,365
JBrowse link
isolated growth hormone deficiency type IB term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gh1 growth hormone 1 ISO ClinVar Annotator: match by term: Isolated growth hormone deficiency type IB
ClinVar Annotator: match by term: Isolated Growth Hormone Deficiency, Type IB
OMIM
ClinVar
PMID:8496314 PMID:9152628 PMID:10678654 PMID:10689634 PMID:12655557 PMID:15001589 PMID:18160466 PMID:18950677 PMID:24635352 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr10:94,486,204...94,488,181
Ensembl chr10:94,486,205...94,488,180
JBrowse link
G Ghrhr growth hormone releasing hormone receptor ISO ClinVar Annotator: match by term: Idiopathic growth hormone deficiency
ClinVar Annotator: match by term: Isolated growth hormone deficiency type IB
ClinVar Annotator: match by term: DWARFISM OF SINDH
ClinVar PMID:8528260 PMID:9467553 PMID:9814493 PMID:10084571 PMID:10566659 PMID:10944436 PMID:10946881 PMID:11232012 PMID:11298081 PMID:11443201 PMID:11502843 PMID:11875102 PMID:12163232 PMID:12181638 PMID:12414875 PMID:12788864 PMID:12794696 PMID:16284391 PMID:16522693 PMID:17356054 PMID:17911170 PMID:18297129 PMID:19622623 PMID:21044116 PMID:22489751 PMID:25541890 PMID:25741868 PMID:28492532 NCBI chr 4:85,587,321...85,602,389
Ensembl chr 4:85,588,595...85,601,666
JBrowse link
isolated growth hormone deficiency type II term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gh1 growth hormone 1 ISO ClinVar Annotator: match by OMIM:173100
ClinVar Annotator: match by term: Pituitary dwarfism due to isolated growth hormone deficiency autosomal dominant
ClinVar Annotator: match by term: IGHD II
ClinVar
OMIM
PMID:7567462 PMID:7714096 PMID:8530604 PMID:8923859 PMID:9152628 PMID:9175738 PMID:9432120 PMID:9554464 PMID:9578959 PMID:9700205 PMID:9799079 PMID:10372722 PMID:10445339 PMID:10469016 PMID:10549303 PMID:10629163 PMID:10698162 PMID:11502827 PMID:11502836 PMID:11836331 PMID:11914025 PMID:12000366 PMID:12399418 PMID:12510984 PMID:12574219 PMID:12655557 PMID:12720086 PMID:15001589 PMID:15671105 PMID:16368751 PMID:16491012 PMID:17038549 PMID:17073157 PMID:17178704 PMID:17336732 PMID:17360215 PMID:17726075 PMID:17785368 PMID:18160466 PMID:18473352 PMID:18554279 PMID:18785993 PMID:18950677 PMID:20351314 PMID:23736291 PMID:25741868 PMID:26467025 PMID:27253996 PMID:28492532 PMID:28626954 PMID:29739035 NCBI chr10:94,486,204...94,488,181
Ensembl chr10:94,486,205...94,488,180
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isolated growth hormone deficiency type III term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Btk Bruton tyrosine kinase ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency
ClinVar Annotator: match by term: IGHD III
ClinVar Annotator: match by OMIM:307200
OMIM
ClinVar
PMID:3486747 PMID:7633420 PMID:7633429 PMID:7678697 PMID:7711734 PMID:7809124 PMID:7849697 PMID:7849721 PMID:7880320 PMID:8013627 PMID:8090769 PMID:8162018 PMID:8162056 PMID:8332900 PMID:8332901 PMID:8380905 PMID:8562928 PMID:8594569 PMID:8644706 PMID:8695804 PMID:8723128 PMID:8834236 PMID:8938104 PMID:8939985 PMID:9106525 PMID:9143921 PMID:9188445 PMID:9192269 PMID:9260159 PMID:9445504 PMID:9486400 PMID:9524120 PMID:9536098 PMID:9545398 PMID:9880544 PMID:10092645 PMID:10373551 PMID:10737994 PMID:10844531 PMID:10859027 PMID:11206059 PMID:11410123 PMID:11438999 PMID:11445810 PMID:11472359 PMID:11527964 PMID:11668622 PMID:11742281 PMID:12204007 PMID:12217331 PMID:12405164 PMID:12655572 PMID:14974089 PMID:15112668 PMID:15661032 PMID:16159644 PMID:16199547 PMID:16297664 PMID:16712653 PMID:16862044 PMID:16943681 PMID:16951917 PMID:17045652 PMID:17327079 PMID:17576681 PMID:17765309 PMID:18241230 PMID:18518992 PMID:18677443 PMID:19039656 PMID:19419768 PMID:19904586 PMID:20529312 PMID:21039741 PMID:21520333 PMID:23335184 PMID:23424595 PMID:24001798 PMID:24033266 PMID:24586880 PMID:24869598 PMID:24885015 PMID:25082755 PMID:25189416 PMID:25270678 PMID:25741868 PMID:25777788 PMID:26915675 PMID:26931785 PMID:27199251 PMID:27512878 PMID:27577878 PMID:27593100 PMID:27980540 PMID:28049639 PMID:28212557 PMID:28359783 PMID:28398200 PMID:28418267 PMID:28492532 PMID:29424453 PMID:29496671 PMID:29503650 PMID:29875397 PMID:30018078 PMID:30072168 PMID:30290665 PMID:30311057 PMID:30564228 NCBI chr  X:105,360,922...105,390,580
Ensembl chr  X:105,360,922...105,390,580
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