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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 8:44,611,187...44,629,818
Ensembl chr 8:44,611,187...44,626,881
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
RGD
PMID:9192671 PMID:9988279 PMID:25736479 PMID:18678883 PMID:24762113 More... RGD:1300269, RGD:734826, RGD:11570533, RGD:11570531, RGD:11570526, RGD:11061419 NCBI chr 1:132,981,034...133,044,416
Ensembl chr 1:132,981,582...133,043,627
JBrowse link
G Acrv1 acrosomal vesicle protein 1 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:36,404,394...36,409,971
Ensembl chr 8:36,404,394...36,424,959
JBrowse link
G Actb actin, beta ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:25741868 NCBI chr12:11,663,112...11,666,697
Ensembl chr12:11,663,109...11,672,877
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 8:29,307,864...29,331,249
Ensembl chr 8:29,307,865...29,331,249
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 8:29,349,078...29,368,413
Ensembl chr 8:29,349,114...29,368,404
JBrowse link
G Adgrb3 adhesion G protein-coupled receptor B3 ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chr 9:27,421,168...28,148,979
Ensembl chr 9:27,421,168...28,148,855
JBrowse link
G Aff2 AF4/FMR2 family, member 2 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:25741868 NCBI chr  X:147,928,130...148,432,484
Ensembl chr  X:147,928,407...148,429,995
JBrowse link
G Alg12 ALG12, alpha-1,6-mannosyltransferase ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chr 7:119,895,112...119,909,488
Ensembl chr 7:119,895,120...119,909,458
JBrowse link
G Ammecr1 AMMECR nuclear protein 1 ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chr  X:106,465,982...106,571,382
Ensembl chr  X:106,466,699...106,571,487
JBrowse link
G Angpt2 angiopoietin 2 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:25741868 PMID:26467025 NCBI chr16:71,088,364...71,138,805
Ensembl chr16:71,088,364...71,138,804
JBrowse link
G Anks3 ankyrin repeat and sterile alpha motif domain containing 3 ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chr10:10,614,953...10,635,815
Ensembl chr10:10,615,047...10,635,806
JBrowse link
G Aplp2 amyloid beta precursor like protein 2 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:29,599,230...29,662,311
Ensembl chr 8:29,599,230...29,661,855
JBrowse link
G Apoa1 apolipoprotein A1 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:46,527,251...46,529,035
Ensembl chr 8:46,527,144...46,529,035
JBrowse link
G Apoa4 apolipoprotein A4 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:46,539,083...46,541,464
Ensembl chr 8:46,539,082...46,541,469
JBrowse link
G Apoa5 apolipoprotein A5 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:46,561,180...46,563,818
Ensembl chr 8:46,561,229...46,563,816
JBrowse link
G Apoc3 apolipoprotein C3 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:46,531,478...46,533,658
Ensembl chr 8:46,531,478...46,533,583
JBrowse link
G Arcn1 archain 1 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:45,057,617...45,082,224
Ensembl chr 8:45,057,619...45,082,247
JBrowse link
G Arhgap32 Rho GTPase activating protein 32 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:30,421,269...30,681,653
Ensembl chr 8:30,421,515...30,678,454
JBrowse link
G Arhgef12 Rho guanine nucleotide exchange factor 12 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:43,350,070...43,475,404
Ensembl chr 8:43,353,799...43,476,366
JBrowse link
G Atp5mg ATP synthase membrane subunit g ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:45,226,750...45,233,582
Ensembl chr 8:45,225,686...45,233,559
JBrowse link
G Atrx ATRX, chromatin remodeler ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:25741868 NCBI chr  X:70,850,981...70,997,330
Ensembl chr  X:70,850,981...70,997,330
JBrowse link
G Bace1 beta-secretase 1 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:46,142,060...46,166,268
Ensembl chr 8:46,142,116...46,165,876
JBrowse link
G Barx2 BARX homeobox 2 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:30,251,132...30,319,105
Ensembl chr 8:30,251,132...30,319,013
JBrowse link
G Bcl9l BCL9 like ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:44,811,977...44,840,611
Ensembl chr 8:44,811,977...44,840,611
JBrowse link
G Brd4 bromodomain containing 4 ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chr 7:11,216,446...11,296,029
Ensembl chr 7:11,216,446...11,295,539
JBrowse link
G Bsx brain specific homeobox ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:41,254,105...41,257,861
Ensembl chr 8:41,254,105...41,257,861
JBrowse link
G Bud13 BUD13 homolog ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:46,575,124...46,590,964
Ensembl chr 8:46,575,115...46,590,958
JBrowse link
G C1qtnf5 C1q and TNF related 5 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:44,450,934...44,453,075
Ensembl chr 8:44,451,154...44,453,074
JBrowse link
G C2cd2l C2CD2-like ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:44,648,074...44,658,856
Ensembl chr 8:44,648,079...44,658,340
JBrowse link
G Cadm1 cell adhesion molecule 1 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:47,847,836...48,178,703
Ensembl chr 8:47,847,325...48,182,833
JBrowse link
G Cant1 calcium activated nucleotidase 1 ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chr10:103,637,079...103,650,240
Ensembl chr10:103,531,504...103,650,109
JBrowse link
G Cbl Cbl proto-oncogene ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:44,487,824...44,571,620
Ensembl chr 8:44,489,410...44,571,176
JBrowse link
G Ccdc120 coiled-coil domain containing 120 ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chr  X:14,753,594...14,772,745
Ensembl chr  X:14,753,696...14,772,743
JBrowse link
G Ccdc15 coiled-coil domain containing 15 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:36,991,147...37,068,849
Ensembl chr 8:36,998,867...37,068,919
JBrowse link
G Ccdc153 coiled-coil domain containing 153 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:44,576,528...44,584,345
Ensembl chr 8:44,577,836...44,584,338
JBrowse link
G Ccn2 cellular communication network factor 2 ISO RGD PMID:11237711 RGD:734846 NCBI chr 1:20,802,199...20,805,315
Ensembl chr 1:20,802,199...20,805,734
JBrowse link
G Cd3d CD3d molecule ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:45,287,803...45,293,342
Ensembl chr 8:45,288,749...45,301,809
JBrowse link
G Cd3e CD3e molecule ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:45,303,848...45,315,297
Ensembl chr 8:45,303,852...45,315,022
JBrowse link
G Cd3g CD3g molecule ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:45,280,797...45,287,271
Ensembl chr 8:45,281,204...45,287,147
JBrowse link
G Cdon cell adhesion associated, oncogene regulated ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:33,775,123...33,861,635
Ensembl chr 8:33,806,183...33,859,033
JBrowse link
G Cenatac centrosomal AT-AC splicing factor ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:44,735,968...44,742,859
Ensembl chr 8:44,735,972...44,742,837
JBrowse link
G Cep164 centrosomal protein 164 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:46,070,901...46,134,511
Ensembl chr 8:46,071,076...46,134,336
JBrowse link
G Cep76 centrosomal protein 76 ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chr18:61,174,514...61,208,512
Ensembl chr18:61,178,310...61,208,504
JBrowse link
G Chd1l chromodomain helicase DNA binding protein 1-like ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chr 2:185,138,526...185,217,498
Ensembl chr 2:185,139,308...185,217,595
JBrowse link
G Chek1 checkpoint kinase 1 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:36,420,565...36,443,477
Ensembl chr 8:36,420,569...36,441,009
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:25741868 PMID:26522830 More... NCBI chr13:29,493,554...29,715,151
Ensembl chr13:29,493,596...29,715,146
JBrowse link
G Clgn calmegin ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chr19:24,695,140...24,728,542
Ensembl chr19:24,696,875...24,728,758
JBrowse link
G Clic4 chloride intracellular channel 4 ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chr 5:147,456,819...147,513,278
Ensembl chr 5:147,453,712...147,513,452
JBrowse link
G Clip1 CAP-GLY domain containing linker protein 1 ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chr12:32,910,932...33,017,891
Ensembl chr12:32,910,977...33,017,884
JBrowse link
G Clmp CXADR-like membrane protein ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:41,060,527...41,168,841
Ensembl chr 8:41,060,799...41,168,838
JBrowse link
G Col11a2 collagen type XI alpha 2 chain ISO Skeletal dysplasia 2 (SD2) OMIA PMID:23527306 NCBI chr20:4,786,929...4,816,598
Ensembl chr20:4,786,929...4,815,985
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
RGD
PMID:25741868 PMID:18678883 RGD:11570531 NCBI chr 7:129,098,489...129,127,620
Ensembl chr 7:129,098,786...129,127,546
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 More... NCBI chr 8:109,604,877...109,637,252
Ensembl chr 8:109,604,861...109,637,252
JBrowse link
G Cpz carboxypeptidase Z ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chr14:75,223,692...75,246,946
Ensembl chr14:75,223,605...75,246,945
JBrowse link
G Crtam cytotoxic and regulatory T cell molecule ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:41,340,117...41,377,343
Ensembl chr 8:41,340,837...41,377,343
JBrowse link
G Cul7 cullin 7 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:25741868 NCBI chr 9:14,319,102...14,333,035
Ensembl chr 9:14,319,108...14,332,741
JBrowse link
G Cxcr5 C-X-C motif chemokine receptor 5 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:44,842,098...44,858,425
Ensembl chr 8:44,843,413...44,857,893
JBrowse link
G Dcps decapping enzyme, scavenger ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:33,468,669...33,524,407
Ensembl chr 8:33,415,671...33,524,389
JBrowse link
G Ddx25 DEAD-box helicase 25 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:33,894,224...33,910,377
Ensembl chr 8:33,894,232...33,921,764
JBrowse link
G Ddx6 DEAD-box helicase 6 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:44,931,127...44,967,773
Ensembl chr 8:44,931,974...44,964,405
JBrowse link
G Dennd4b DENN domain containing 4B ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chr 2:175,720,473...175,736,425
Ensembl chr 2:175,709,610...175,736,426
JBrowse link
G Dhx34 DExH-box helicase 34 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:31256877 NCBI chr 1:76,880,867...76,905,148
Ensembl chr 1:76,880,867...76,905,113
JBrowse link
G Dnah17 dynein, axonemal, heavy chain 17 ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chr10:103,244,144...103,364,953
Ensembl chr10:103,249,363...103,364,901
JBrowse link
G Dnmt3a DNA methyltransferase 3 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:30478443 NCBI chr 6:26,791,517...26,902,161
Ensembl chr 6:26,822,609...26,896,687
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 chr11:30,911,616...30,933,150
Ensembl chr11:30,923,239...30,932,889
JBrowse link
G Dpagt1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:44,664,055...44,671,102
Ensembl chr 8:44,664,071...44,671,087
JBrowse link
G Dscaml1 DS cell adhesion molecule-like 1 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:45,740,298...46,057,322
Ensembl chr 8:45,740,298...46,057,320
JBrowse link
G Dvl3 dishevelled segment polarity protein 3 ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chr11:80,365,446...80,382,641
Ensembl chr11:80,366,117...80,382,462
JBrowse link
G Edem3 ER degradation enhancing alpha-mannosidase like protein 3 ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chr13:63,858,282...63,920,538
Ensembl chr13:63,858,716...63,920,523
JBrowse link
G Ei24 EI24, autophagy associated transmembrane protein ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:36,494,289...36,510,653
Ensembl chr 8:36,494,289...36,510,571
JBrowse link
G Ep300 E1A binding protein p300 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:25741868 NCBI chr 7:113,108,476...113,178,529
Ensembl chr 7:113,106,247...113,178,529
Ensembl chr 7:113,106,247...113,178,529
JBrowse link
G Esam endothelial cell adhesion molecule ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:37,238,228...37,249,217
Ensembl chr 8:37,238,287...37,249,215
JBrowse link
G Ets1 ETS proto-oncogene 1, transcription factor ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:31,045,909...31,168,010
Ensembl chr 8:31,045,945...31,168,010
JBrowse link
G Fam118b family with sequence similarity 118, member B ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:33,566,681...33,617,310
Ensembl chr 8:33,566,669...33,617,270
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 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889
JBrowse link
G Fbrs fibrosin ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chr 1:182,090,741...182,104,026
Ensembl chr 1:182,089,844...182,103,828
JBrowse link
G Fez1 fasciculation and elongation protein zeta 1 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:36,544,462...36,589,684
Ensembl chr 8:36,544,535...36,589,683
JBrowse link
G Fgf18 fibroblast growth factor 18 ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chr10:17,706,011...17,737,702
Ensembl chr10:17,706,174...17,736,818
JBrowse link
G Fgfr3 fibroblast growth factor receptor 3 ISO ClinVar Annotator: match by term: Short stature ClinVar
RGD
PMID:1908846 PMID:7670477 PMID:7773297 PMID:8589686 PMID:8858131 More... RGD:11568033 NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341
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 chr10:85,345,434...85,357,998
Ensembl chr10:85,346,126...85,427,330
JBrowse link
G Fli1 Fli-1 proto-oncogene, ETS transcription factor ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:30,831,422...30,950,468
Ensembl chr 8:30,832,753...30,950,433
JBrowse link
G Flna filamin A ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:12612583 PMID:15917206 PMID:25741868 NCBI chr  X:152,007,758...152,034,266
Ensembl chr  X:152,007,758...152,031,052
JBrowse link
G Flnb filamin B ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chr15:16,961,999...17,095,059
Ensembl chr15:16,962,003...17,095,006
JBrowse link
G Foxr1 forkhead box R1 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:44,760,587...44,768,696
Ensembl chr 8:44,760,948...44,768,880
JBrowse link
G Foxred1 FAD-dependent oxidoreductase domain containing 1 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:33,551,010...33,560,227
Ensembl chr 8:33,551,013...33,560,192
JBrowse link
G Fxyd2 FXYD domain-containing ion transport regulator 2 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:45,712,887...45,720,032
Ensembl chr 8:45,712,903...45,720,203
JBrowse link
G Fxyd6 FXYD domain-containing ion transport regulator 6 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:45,679,054...45,705,958
Ensembl chr 8:45,678,885...45,705,958
JBrowse link
G Fzd2 frizzled class receptor 2 ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chr10:87,561,866...87,563,776
Ensembl chr10:87,561,326...87,565,334
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 More... NCBI chr10:86,307,400...86,318,766
Ensembl chr10:86,257,668...86,333,804
JBrowse link
G Gabre gamma-aminobutyric acid type A receptor subunit epsilon ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chr  X:150,060,035...150,078,773
Ensembl chr  X:150,060,040...150,078,693
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 chr10:91,228,102...91,230,079
Ensembl chr10:91,228,103...91,230,078
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 2:52,541,452...52,804,960
Ensembl chr 2:52,542,594...52,804,735
JBrowse link
G Ghrl ghrelin and obestatin prepropeptide ISO protein:increased expression:serum: RGD PMID:20861603 RGD:12904881 NCBI chr 4:146,865,712...146,869,621
Ensembl chr 4:146,865,712...146,869,621
JBrowse link
G Ghsr growth hormone secretagogue receptor ISO DNA:mutations: : RGD PMID:21084395 PMID:7968381 RGD:12904884, RGD:12910126 NCBI chr 2:110,268,489...110,271,865
Ensembl chr 2:110,268,489...110,271,865
JBrowse link
G Gramd1b GRAM domain containing 1B ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:40,654,492...40,893,869
Ensembl chr 8:40,659,182...40,893,925
JBrowse link
G Greb1l GREB1 like retinoic acid receptor coactivator ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chr18:1,392,330...1,629,483
Ensembl chr18:1,392,725...1,628,067
JBrowse link
G Grik4 glutamate ionotropic receptor kainate type subunit 4 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:42,903,043...43,331,990
Ensembl chr 8:42,905,056...43,193,751
JBrowse link
G H2ap H2A.P histone ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chr  X:12,907,962...12,908,516 JBrowse link
G H2ax H2A.X variant histone ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:44,671,927...44,673,257
Ensembl chr 8:44,671,786...44,673,239
JBrowse link
G Hapln1 hyaluronan and proteoglycan link protein 1 ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:9988279 PMID:9988279 RGD:734826 NCBI chr 2:20,631,640...20,696,388
Ensembl chr 2:20,631,640...20,693,777
JBrowse link
G Hepacam hepatic and glial cell adhesion molecule ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:37,087,864...37,106,759
Ensembl chr 8:37,087,857...37,105,920
JBrowse link
G Hinfp histone H4 transcription factor ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:44,634,333...44,644,288
Ensembl chr 8:44,634,333...44,641,000
JBrowse link
G Hkdc1 hexokinase domain containing 1 ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chr20:30,335,322...30,373,792
Ensembl chr20:30,335,628...30,373,867
JBrowse link
G Hmbs hydroxymethylbilane synthase ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:44,673,554...44,680,950
Ensembl chr 8:44,673,554...44,680,957
JBrowse link
G Hook3 hook microtubule-tethering protein 3 ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chr16:65,954,293...66,058,812
Ensembl chr16:65,954,350...66,061,338
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 8:41,183,397...41,187,260
Ensembl chr 8:41,183,264...41,187,259
JBrowse link
G Hyls1 HYLS1, centriolar and ciliogenesis associated ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:33,913,016...33,922,125
Ensembl chr 8:33,912,692...33,921,760
JBrowse link
G Hyou1 hypoxia up-regulated 1 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:44,706,073...44,718,189
Ensembl chr 8:44,706,263...44,718,186
JBrowse link
G Ift46 intraflagellar transport 46 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:45,081,593...45,104,052
Ensembl chr 8:45,087,440...45,104,052
JBrowse link
G Ift81 intraflagellar transport 81 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:28492532 NCBI chr12:33,957,744...34,037,164
Ensembl chr12:33,957,806...34,037,057
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 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296
JBrowse link
G Igfbp3 insulin-like growth factor binding protein 3 ISO associated with Anemia, Sickle Cell; RGD PMID:17396438 RGD:12743603 NCBI chr14:82,056,347...82,064,083
Ensembl chr14:82,056,347...82,064,083
JBrowse link
G Il10ra interleukin 10 receptor subunit alpha ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:45,563,009...45,578,041
Ensembl chr 8:45,563,137...45,578,061
JBrowse link
G Jaml junction adhesion molecule like ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:45,384,836...45,415,459
Ensembl chr 8:45,383,495...45,416,565
JBrowse link
G Jhy junctional cadherin complex regulator ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:41,276,501...41,333,383
Ensembl chr 8:41,276,491...41,333,514
JBrowse link
G Kcnd1 potassium voltage-gated channel subfamily D member 1 ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chr  X:14,661,688...14,678,745
Ensembl chr  X:14,662,357...14,677,233
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 8:30,779,883...30,808,607
Ensembl chr 8:30,753,617...30,813,796
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 8:30,724,923...30,753,083
Ensembl chr 8:30,724,925...30,753,518
JBrowse link
G Kirrel3 kirre like nephrin family adhesion molecule 3 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:32,865,779...33,407,555
Ensembl chr 8:32,862,776...33,405,676
JBrowse link
G Kmt2a lysine methyltransferase 2A ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:45,116,771...45,193,320
Ensembl chr 8:45,118,814...45,193,181
JBrowse link
G Lama5 laminin subunit alpha 5 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:28492532 NCBI chr 3:167,270,296...167,318,370
Ensembl chr 3:167,270,296...167,318,451
JBrowse link
G Lemd2 LEM domain nuclear envelope protein 2 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:25741868 PMID:30905398 NCBI chr20:5,282,397...5,296,621
Ensembl chr20:5,282,397...5,296,626
JBrowse link
G Lmna lamin A/C ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:19589617 PMID:22918509 PMID:23183350 PMID:24033266 PMID:25741868 More... NCBI chr 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423
JBrowse link
G LOC103689958 olfactory receptor 49-like ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 1:65,911,907...65,913,255
Ensembl chr 1:65,912,105...65,913,079
JBrowse link
G LOC317416 similar to inter alpha-trypsin inhibitor, heavy chain 4 ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chr  X:19,753,333...19,790,259
Ensembl chr  X:19,753,625...19,789,500
JBrowse link
G Lonp1 lon peptidase 1, mitochondrial ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:28492532 NCBI chr 9:1,447,444...1,459,771
Ensembl chr 9:1,447,447...1,459,771
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 More... NCBI chr11:83,487,717...83,503,896
Ensembl chr11:83,487,717...83,503,633
JBrowse link
G Macf1 microtubule-actin crosslinking factor 1 ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chr 5:135,623,729...135,949,097
Ensembl chr 5:135,623,742...135,945,905
JBrowse link
G Mapk1 mitogen activated protein kinase 1 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:25741868 PMID:32721402 NCBI chr11:83,957,813...84,023,629
Ensembl chr11:83,957,813...84,023,616
JBrowse link
G Mcam melanoma cell adhesion molecule ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:44,479,391...44,487,575
Ensembl chr 8:44,479,376...44,487,571
JBrowse link
G Mcph1 microcephalin 1 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:25741868 PMID:26467025 NCBI chr16:71,021,855...71,224,067
Ensembl chr16:71,024,588...71,224,122
JBrowse link
G Med24 mediator complex subunit 24 ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chr10:83,664,609...83,702,315
Ensembl chr10:83,664,609...83,690,123
JBrowse link
G Mfn2 mitofusin 2 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:15064763 PMID:16437557 PMID:16714318 PMID:16835246 PMID:17215403 More... NCBI chr 5:158,304,285...158,335,502
Ensembl chr 5:158,304,287...158,335,342
JBrowse link
G Mfrp membrane frizzled-related protein ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:44,445,636...44,450,859
Ensembl chr 8:44,445,697...44,450,859
JBrowse link
G Mir100 microRNA 100 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:41,901,225...41,901,304
Ensembl chr 8:41,901,225...41,901,304
JBrowse link
G Mir125b1 microRNA 125b-1 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:41,952,966...41,953,052
Ensembl chr 8:41,952,966...41,953,052
JBrowse link
G Mpzl2 myelin protein zero-like 2 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:45,348,285...45,359,298
Ensembl chr 8:45,348,285...45,359,298
JBrowse link
G Mpzl3 myelin protein zero-like 3 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:45,360,475...45,380,662
Ensembl chr 8:45,349,054...45,380,662
JBrowse link
G Msantd2 Myb/SANT DNA binding domain containing 2 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:37,200,890...37,234,691
Ensembl chr 8:37,200,260...37,234,476
JBrowse link
G Mta3 metastasis associated 1 family, member 3 ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chr 6:10,867,028...10,987,221
Ensembl chr 6:10,867,011...10,986,883
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 More... NCBI chr 8:65,953,787...65,971,841
Ensembl chr 8:65,953,767...65,971,841
JBrowse link
G Myh7b myosin heavy chain 7B ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chr 3:144,076,911...144,122,714
Ensembl chr 3:144,098,190...144,122,084
JBrowse link
G Myh8 myosin heavy chain 8 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:25741868 NCBI chr10:51,963,510...51,993,103
Ensembl chr10:51,963,510...51,993,232
JBrowse link
G N4bp2l2 NEDD4 binding protein 2-like 2 ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chr12:137,342...200,294
Ensembl chr12:103,590...197,784
JBrowse link
G Nectin1 nectin cell adhesion molecule 1 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:44,101,776...44,164,863
Ensembl chr 8:44,101,776...44,189,787
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 8:29,831,802...29,863,360
Ensembl chr 8:29,831,812...29,863,359
JBrowse link
G Nlrx1 NLR family member X1 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:44,588,476...44,606,678
Ensembl chr 8:44,590,048...44,606,484
JBrowse link
G Nrgn neurogranin ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:37,255,462...37,263,659
Ensembl chr 8:37,256,930...37,257,516
JBrowse link
G Nrxn3 neurexin 3 ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chr 6:107,641,760...109,272,849
Ensembl chr 6:107,641,780...109,272,044
JBrowse link
G Nuf2 NUF2 component of NDC80 kinetochore complex ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:25741868 PMID:33721060 NCBI chr13:81,693,675...81,722,765
Ensembl chr13:81,693,598...81,722,766
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 8:48,661,708...48,695,555
Ensembl chr 8:48,661,708...48,698,035
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 8:48,502,697...48,744,101
Ensembl chr 8:48,722,440...48,744,100
JBrowse link
G Oaf out at first homolog ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:43,594,362...43,612,334
Ensembl chr 8:43,594,363...43,612,334
JBrowse link
G Obscn obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chr10:43,774,113...43,919,718
Ensembl chr10:43,789,293...43,919,723
JBrowse link
G Obsl1 obscurin like cytoskeletal adaptor 1 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:19481195 PMID:25741868 NCBI chr 9:76,967,802...76,993,565
Ensembl chr 9:76,974,253...76,993,560
JBrowse link
G Olr1194 olfactory receptor 1194 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:37,434,903...37,435,832
Ensembl chr 8:37,434,551...37,439,746
JBrowse link
G Olr1196 olfactory receptor 1196 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:37,479,706...37,480,638
Ensembl chr 8:37,478,794...37,481,315
JBrowse link
G Olr1201 olfactory receptor 1201 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:37,693,578...37,694,510
Ensembl chr 8:37,693,499...37,694,547
JBrowse link
G Olr1202 olfactory receptor 1202 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:37,720,158...37,721,087 JBrowse link
G Olr1235 olfactory receptor 1235 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:38,521,915...38,522,856
Ensembl chr 8:38,520,758...38,522,936
JBrowse link
G Olr1271 olfactory receptor 1271 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:39,127,409...39,131,889
Ensembl chr 8:39,127,352...39,131,900
JBrowse link
G Olr1274 olfactory receptor 1274 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:39,161,815...39,162,747
Ensembl chr 8:39,161,815...39,162,747
JBrowse link
G Olr1283 olfactory receptor 1283 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:39,357,910...39,358,962 JBrowse link
G Olr1334 olfactory receptor 1334 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:40,352,436...40,353,371
Ensembl chr 8:40,352,436...40,353,371
JBrowse link
G Olr1335 olfactory receptor 1335 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:40,358,211...40,359,143
Ensembl chr 8:40,357,714...40,361,692
JBrowse link
G Olr1337 olfactory receptor 1337 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:40,377,018...40,378,068
Ensembl chr 8:40,377,103...40,378,068
JBrowse link
G Olr1339 olfactory receptor 1339 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:40,423,865...40,424,809
Ensembl chr 8:40,423,865...40,424,809
JBrowse link
G Olr1340 olfactory receptor 1340 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:40,469,997...40,470,932
Ensembl chr 8:40,469,997...40,470,932
JBrowse link
G Olr1341 olfactory receptor 1341 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:40,538,157...40,539,095
Ensembl chr 8:40,533,033...40,541,586
JBrowse link
G Orc1 origin recognition complex, subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21358633 NCBI chr 5:123,324,273...123,348,375
Ensembl chr 5:123,324,315...123,348,375
JBrowse link
G Osbp oxysterol binding protein ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chr 1:208,888,697...208,918,511
Ensembl chr 1:208,887,895...208,918,506
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 8:46,260,069...46,312,073
Ensembl chr 8:46,261,064...46,279,833
JBrowse link
G Panx3 pannexin 3 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:37,366,758...37,377,640
Ensembl chr 8:37,366,862...37,377,640
JBrowse link
G Pate1 prostate and testis expressed 1 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:34,048,617...34,050,848
Ensembl chr 8:34,048,617...34,050,848
JBrowse link
G Pate2 prostate and testis expressed 2 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:34,019,123...34,026,850
Ensembl chr 8:34,024,114...34,050,517
JBrowse link
G Pate3 prostate and testis expressed 3 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:34,014,164...34,016,175
Ensembl chr 8:34,014,164...34,016,175
JBrowse link
G Pate4 prostate and testis expressed 4 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:33,988,812...33,991,552
Ensembl chr 8:33,988,812...33,991,552
JBrowse link
G Pcsk1 proprotein convertase subtilisin/kexin type 1 ISO RGD PMID:12145326 RGD:737721 NCBI chr 2:4,395,543...4,442,434
Ensembl chr 2:4,395,543...4,442,434
JBrowse link
G Pcsk7 proprotein convertase subtilisin/kexin type 7 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:46,202,079...46,224,699
Ensembl chr 8:46,202,131...46,224,705
JBrowse link
G Pdzd3 PDZ domain containing 3 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:44,584,390...44,588,838
Ensembl chr 8:44,584,390...44,588,860
JBrowse link
G Pdzrn3 PDZ domain containing RING finger 3 ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chr 4:133,770,736...133,996,959
Ensembl chr 4:133,770,736...133,996,959
JBrowse link
G Phf20 PHD finger protein 20 ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chr 3:144,710,253...144,816,696
Ensembl chr 3:144,710,353...144,814,439
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 8:45,003,538...45,051,541
Ensembl chr 8:45,003,538...45,051,522
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 1:170,577,942...170,684,353
Ensembl chr 1:170,577,942...170,683,472
JBrowse link
G Pknox2 PBX/knotted 1 homeobox 2 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:36,600,633...36,863,131
Ensembl chr 8:36,600,636...36,790,940
JBrowse link
G Plk4 polo-like kinase 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25344692 NCBI chr 2:123,802,512...123,820,942
Ensembl chr 2:123,802,512...123,820,942
JBrowse link
G Plxna3 plexin A3 ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chr  X:152,115,699...152,131,608
Ensembl chr  X:152,115,819...152,131,603
JBrowse link
G Pogz pogo transposable element derived with ZNF domain ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chr 2:182,394,269...182,440,711
Ensembl chr 2:182,380,768...182,440,707
JBrowse link
G Polr2e RNA polymerase II, I and III subunit E ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chr 7:9,666,695...9,670,638
Ensembl chr 7:9,666,716...9,670,643
JBrowse link
G Polr3gl RNA polymerase III subunit GL ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:31089205 NCBI chr 2:184,111,570...184,129,200
Ensembl chr 2:184,112,510...184,129,114
JBrowse link
G Pou2f3 POU class 2 homeobox 3 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:43,495,408...43,577,795
Ensembl chr 8:43,495,527...43,577,795
JBrowse link
G Prdm10 PR/SET domain 10 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:29,724,011...29,827,757
Ensembl chr 8:29,724,245...29,826,080
JBrowse link
G Prkg2 protein kinase cGMP-dependent 2 IAGP DNA:deletion:cds (rat) RGD PMID:15466490 PMID:19149413 RGD:150429792, RGD:150429793 NCBI chr14:10,559,882...10,668,479
Ensembl chr14:10,559,882...10,666,888
JBrowse link
G Psmg2 proteasome assembly chaperone 2 ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chr18:61,208,669...61,227,671
Ensembl chr18:61,208,678...61,259,816
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 More... NCBI chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925
JBrowse link
G Ptpru protein tyrosine phosphatase, receptor type, U ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chr 5:143,950,542...144,024,791
Ensembl chr 5:143,950,965...144,024,768
JBrowse link
G Pus3 pseudouridine synthase 3 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:33,910,461...33,918,716
Ensembl chr 8:33,911,357...33,918,714
JBrowse link
G Pygb glycogen phosphorylase B ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chr 3:139,611,724...139,658,521
Ensembl chr 3:139,611,749...139,663,553
JBrowse link
G Rasa3 RAS p21 protein activator 3 ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chr16:75,855,360...75,969,349
Ensembl chr16:75,855,265...75,970,804
JBrowse link
G Recql RecQ like helicase ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:25741868 NCBI chr 4:175,308,337...175,332,965
Ensembl chr 4:175,304,117...175,332,945
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 More... NCBI chr 4:151,325,969...151,368,176
Ensembl chr 4:151,326,431...151,368,176
JBrowse link
G Rnf214 ring finger protein 214 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:46,166,269...46,202,048
Ensembl chr 8:46,166,598...46,201,576
JBrowse link
G Rnf26 ring finger protein 26 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:44,454,551...44,456,745
Ensembl chr 8:44,454,292...44,457,331
JBrowse link
G Rnf31 ring finger protein 31 ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chr15:29,083,047...29,095,328
Ensembl chr15:29,083,631...29,101,915
JBrowse link
G Robo3 roundabout guidance receptor 3 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:37,133,542...37,151,674
Ensembl chr 8:37,133,916...37,151,315
JBrowse link
G Robo4 roundabout guidance receptor 4 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:37,119,966...37,133,887
Ensembl chr 8:37,119,988...37,132,519
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 chr17:11,972,830...12,148,152
Ensembl chr17:11,972,830...12,148,152
JBrowse link
G Ros1 ROS proto-oncogene 1 , receptor tyrosine kinase ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chr20:31,432,636...31,583,998
Ensembl chr20:31,432,637...31,583,865
JBrowse link
G Rps25 ribosomal protein s25 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:44,733,623...44,735,999
Ensembl chr 8:44,733,029...44,737,271
JBrowse link
G Rpusd4 RNA pseudouridine synthase D4 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:33,617,384...33,626,873
Ensembl chr 8:33,617,379...33,626,873
JBrowse link
G Runx1t1 RUNX1 partner transcriptional co-repressor 1 ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chr 5:27,187,674...27,338,070
Ensembl chr 5:27,187,551...27,335,592
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 1:84,292,578...84,423,799
Ensembl chr 1:84,292,578...84,423,812
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 More... NCBI chr12:26,420,410...26,429,650
Ensembl chr12:26,420,414...26,429,649
JBrowse link
G Sc5d sterol-C5-desaturase ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:42,629,649...42,641,257
Ensembl chr 8:42,632,672...42,641,273
JBrowse link
G Scn2b sodium voltage-gated channel beta subunit 2 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:45,425,629...45,437,765
Ensembl chr 8:45,425,629...45,437,765
JBrowse link
G Scn3b sodium voltage-gated channel beta subunit 3 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:40,630,372...40,652,869
Ensembl chr 8:40,630,455...40,652,868
JBrowse link
G Scn4b sodium voltage-gated channel beta subunit 4 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:45,446,580...45,462,294
Ensembl chr 8:45,446,215...45,462,292
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 chr20:6,199,182...6,231,100
Ensembl chr20:6,199,182...6,228,584
JBrowse link
G Siae sialic acid acetylesterase ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:37,318,724...37,354,004
Ensembl chr 8:37,318,747...37,353,996
JBrowse link
G Sidt2 SID1 transmembrane family, member 2 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:46,232,379...46,248,913
Ensembl chr 8:46,232,383...46,248,700
JBrowse link
G Sik3 SIK family kinase 3 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:46,312,253...46,522,444
Ensembl chr 8:46,311,989...46,522,444
JBrowse link
G Sin3a SIN3 transcription regulator family member A ISO CTD Direct Evidence: marker/mechanism CTD PMID:27399968 NCBI chr 8:57,481,539...57,536,195
Ensembl chr 8:57,481,573...57,536,192
JBrowse link
G Slc37a2 solute carrier family 37 member 2 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:36,945,787...36,971,748
Ensembl chr 8:36,946,930...36,971,482
JBrowse link
G Slc37a4 solute carrier family 37 member 4 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:44,723,216...44,729,301
Ensembl chr 8:44,723,339...44,729,301
JBrowse link
G Slc38a3 solute carrier family 38, member 3 ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chr 8:108,323,889...108,339,959
Ensembl chr 8:108,323,894...108,339,988
JBrowse link
G Slc7a8 solute carrier family 7 member 8 ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chr15:28,183,013...28,242,717
Ensembl chr15:28,183,015...28,242,717
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 chr19:27,271,918...27,304,594
Ensembl chr19:27,271,148...27,304,594
JBrowse link
G Snx19 sorting nexin 19 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:28,829,881...28,867,600
Ensembl chr 8:28,829,886...28,867,061
JBrowse link
G Sorl1 sortilin related receptor 1 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:42,341,704...42,504,435
Ensembl chr 8:42,341,704...42,504,513
JBrowse link
G Spa17 sperm autoantigenic protein 17 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:37,307,432...37,318,645
Ensembl chr 8:37,307,557...37,318,639
JBrowse link
G Srpra SRP receptor subunit alpha ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:33,560,365...33,566,458
Ensembl chr 8:33,560,348...33,566,470
JBrowse link
G Srpx sushi-repeat-containing protein, X-linked ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chr  X:12,676,984...12,751,296
Ensembl chr  X:12,566,645...12,747,882
JBrowse link
G St14 ST14 transmembrane serine protease matriptase ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:29,540,805...29,581,704
Ensembl chr 8:29,540,811...29,581,517
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 8:33,415,666...33,465,365
Ensembl chr 8:33,415,671...33,524,389
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 More... NCBI chr 9:49,419,561...49,459,969
Ensembl chr 9:49,419,340...49,588,540
JBrowse link
G Stt3a STT3 oligosaccharyltransferase complex catalytic subunit A ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:36,443,623...36,483,111
Ensembl chr 8:36,446,788...36,483,293
JBrowse link
G Sytl5 synaptotagmin-like 5 ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chr  X:12,775,529...13,030,134
Ensembl chr  X:12,788,698...13,030,175
JBrowse link
G Tagln transgelin ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:46,224,939...46,230,413
Ensembl chr 8:46,222,472...46,230,668
JBrowse link
G Tbce tubulin folding cofactor E ISO Kenny-Caffey syndrome, OMIM:244460 RGD PMID:12389028 RGD:1599303 NCBI chr17:51,290,143...51,336,090
Ensembl chr17:51,290,202...51,336,089
JBrowse link
G Tbcel tubulin folding cofactor E-like ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:42,795,648...42,854,552
Ensembl chr 8:42,796,730...42,854,552
JBrowse link
G Tbrg1 transforming growth factor beta regulator 1 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:37,355,274...37,362,933
Ensembl chr 8:37,354,658...37,362,930
JBrowse link
G Tecta tectorin alpha ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:42,707,962...42,779,726
Ensembl chr 8:42,707,962...42,779,707
JBrowse link
G Tg thyroglobulin treatment ISO
IAGP
CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:24582622 PMID:16365524 PMID:10760744 RGD:150429798, RGD:13605608 NCBI chr 7:98,418,293...98,603,210
Ensembl chr 7:98,418,293...98,603,210
JBrowse link
G Tgrdw thyroglobulin; rdw mutant treatment IAGP RGD PMID:10760744 PMID:16365524 RGD:13605608, RGD:150429798
G Thy1 Thy-1 cell surface antigen ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:44,389,495...44,394,688
Ensembl chr 8:44,389,513...44,394,659
JBrowse link
G Tirap TIR domain containing adaptor protein ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:33,531,724...33,548,508
Ensembl chr 8:33,531,725...33,547,432
JBrowse link
G Tlcd5 TLC domain containing 5 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:43,481,388...43,486,288
Ensembl chr 8:43,479,016...43,486,290
JBrowse link
G Tmem218 transmembrane protein 218 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:36,924,553...36,940,564
Ensembl chr 8:36,924,585...36,939,927
JBrowse link
G Tmem225 transmembrane protein 225 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:40,497,483...40,500,041
Ensembl chr 8:40,497,483...40,500,041
JBrowse link
G Tmem25 transmembrane protein 25 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:45,107,116...45,112,657
Ensembl chr 8:45,107,121...45,116,389
JBrowse link
G Tmem45b transmembrane protein 45b ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:29,865,276...29,910,453
Ensembl chr 8:29,865,278...29,910,453
JBrowse link
G Tmprss13 transmembrane serine protease 13 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:45,625,759...45,653,943
Ensembl chr 8:45,625,626...45,653,938
JBrowse link
G Tmprss4 transmembrane serine protease 4 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:45,475,819...45,508,409
Ensembl chr 8:45,476,053...45,508,409
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 More... NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
JBrowse link
G Tpo thyroid peroxidase ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:25741868 NCBI chr 6:46,698,402...46,768,199
Ensembl chr 6:46,698,414...46,768,199
JBrowse link
G Traip TRAF-interacting protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:26595769 NCBI chr 8:108,641,860...108,661,640
Ensembl chr 8:108,641,852...108,661,638
JBrowse link
G Trappc11 trafficking protein particle complex subunit 11 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:28492532 NCBI chr16:44,733,169...44,779,324
Ensembl chr16:44,733,169...44,779,322
JBrowse link
G Trappc4 trafficking protein particle complex subunit 4 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:44,729,458...44,733,285
Ensembl chr 8:44,725,331...44,733,491
JBrowse link
G Treh trehalase ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:44,990,182...45,003,881
Ensembl chr 8:44,990,182...45,003,540
JBrowse link
G Trim29 tripartite motif-containing 29 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:43,682,221...43,706,992
Ensembl chr 8:43,682,221...43,706,992
JBrowse link
G Trim37 tripartite motif-containing 37 ISO Mulibrey Nanism, OMIM:253250 RGD PMID:10888877 RGD:1599667 NCBI chr10:71,943,384...72,075,567
Ensembl chr10:71,943,375...72,075,558
JBrowse link
G Tshr thyroid stimulating hormone receptor IMP RGD PMID:29507327 RGD:150521601 NCBI chr 6:110,341,585...110,475,297
Ensembl chr 6:110,341,581...110,474,538
JBrowse link
G Tshrem1Mlit thyroid stimulating hormone receptor; CRISPR/Cas9 induced mutant 1, Mlit IMP RGD PMID:29507327 RGD:150521601
G Tstd3 thiosulfate sulfurtransferase like domain containing 3 ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chr 5:35,294,652...35,304,101
Ensembl chr 5:35,294,645...35,304,101
JBrowse link
G Ttc36 tetratricopeptide repeat domain 36 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:45,112,737...45,116,345 JBrowse link
G Ttn titin ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:23861362 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 3:61,652,432...61,924,912
Ensembl chr 3:61,652,439...61,924,741
JBrowse link
G Ubash3b ubiquitin associated and SH3 domain containing, B ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:41,385,419...41,532,248
Ensembl chr 8:41,388,341...41,532,201
JBrowse link
G Ube4a ubiquitination factor E4A ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:45,236,022...45,278,129
Ensembl chr 8:45,236,026...45,278,038
JBrowse link
G Ubr4 ubiquitin protein ligase E3 component n-recognin 4 ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chr 5:151,635,825...151,743,931
Ensembl chr 5:151,635,868...151,743,784
JBrowse link
G Upk2 uroplakin 2 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:44,779,198...44,781,190
Ensembl chr 8:44,779,198...44,781,190
JBrowse link
G Ush2a usherin ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:9624053 PMID:10090909 PMID:10729113 PMID:10909849 PMID:11402400 More... NCBI chr13:99,837,445...100,503,935
Ensembl chr13:99,837,445...100,503,922
JBrowse link
G Usp2 ubiquitin specific peptidase 2 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:44,411,457...44,439,668
Ensembl chr 8:44,411,607...44,438,331
JBrowse link
G Usp24 ubiquitin specific peptidase 24 ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chr 5:121,080,687...121,210,321
Ensembl chr 5:121,080,470...121,210,311
JBrowse link
G Usp45 ubiquitin specific peptidase 45 ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chr 5:35,318,621...35,392,090
Ensembl chr 5:35,318,635...35,389,420
JBrowse link
G Usp51 ubiquitin specific peptidase 51 ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chr  X:18,374,940...18,381,472
Ensembl chr  X:18,376,930...18,379,888
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 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677
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 8:44,683,768...44,698,572
Ensembl chr 8:44,684,127...44,698,568
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 More... NCBI chr 7:66,557,862...67,128,429
Ensembl chr 7:66,558,471...67,128,429
JBrowse link
G Vsig2 V-set and immunoglobulin domain containing 2 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:37,250,107...37,255,150
Ensembl chr 8:37,250,107...37,255,150
JBrowse link
G Vwa5a von Willebrand factor A domain containing 5A ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:38,815,176...38,848,674
Ensembl chr 8:38,815,210...38,839,112
JBrowse link
G Vwce von Willebrand factor C and EGF domains ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chr 1:207,280,714...207,327,215
Ensembl chr 1:207,282,356...207,312,986
JBrowse link
G Wdr6 WD repeat domain 6 ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chr 8:109,268,079...109,274,504
Ensembl chr 8:109,268,079...109,274,499
JBrowse link
G Wdr62 WD repeat domain 62 ISO RGD PMID:24875059 RGD:11541053 NCBI chr 1:85,491,531...85,530,643
Ensembl chr 1:85,491,533...85,530,637
JBrowse link
G Wnt4 Wnt family member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17505543 NCBI chr 5:149,513,573...149,535,415
Ensembl chr 5:149,514,018...149,532,859
JBrowse link
G Wwox WW domain-containing oxidoreductase IAGP DNA:deletion:cds:exon 9, 13bp nucleotides 1190-1202
compared to wild type and heterozygotes
RGD PMID:19500159 PMID:17803050 PMID:18676360 RGD:150429979, RGD:150429978, RGD:150429974 NCBI chr19:42,432,141...43,360,278
Ensembl chr19:42,432,152...43,359,391
JBrowse link
G Wwoxlde WW domain-containing oxidoreductase; lde mutant IAGP compared to wild type and heterozygotes RGD PMID:19500159 PMID:18676360 PMID:17803050 RGD:150429979, RGD:150429974, RGD:150429978
G Xdh xanthine dehydrogenase ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:21,530,463...21,592,172
Ensembl chr 6:21,530,113...21,592,268
JBrowse link
G Zbed4 zinc finger, BED-type containing 4 ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chr 7:119,846,374...119,883,495
Ensembl chr 7:119,843,169...119,883,899
JBrowse link
G Zbtb44 zinc finger and BTB domain containing 44 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:29,466,055...29,524,027
Ensembl chr 8:29,466,352...29,518,163
JBrowse link
G Zfc3h1 zinc finger, C3H1-type containing ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chr 7:51,008,251...51,064,666
Ensembl chr 7:51,007,984...51,064,661
JBrowse link
G Zfhx3 zinc finger homeobox 3 ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chr19:36,257,196...36,886,104
Ensembl chr19:36,630,254...36,881,771
JBrowse link
G Zfp202 zinc finger protein 202 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:40,542,665...40,567,397
Ensembl chr 8:40,542,701...40,563,118
JBrowse link
G Zfp446 zinc finger protein 446 ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chr 1:73,594,953...73,612,685
Ensembl chr 1:73,601,759...73,612,685
JBrowse link
G Zfp449 zinc finger protein 449 ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chr  X:134,120,820...134,140,921
Ensembl chr  X:134,122,636...134,140,924
JBrowse link
G Zpr1 ZPR1 zinc finger ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:46,564,898...46,574,719
Ensembl chr 8:46,565,146...46,574,719
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 1:77,679,521...77,682,849
Ensembl chr 1:77,679,218...77,683,090
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 9:14,319,102...14,333,035
Ensembl chr 9:14,319,108...14,332,741
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 9:76,967,802...76,993,565
Ensembl chr 9:76,974,253...76,993,560
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 More... NCBI chr  X:20,023,746...20,066,730
Ensembl chr  X:20,023,746...20,066,566
JBrowse link
G Tsr2 TSR2, ribosome maturation factor ISO ClinVar Annotator: match by term: Aarskog syndrome ClinVar PMID:25741868 NCBI chr  X:20,064,102...20,072,673
Ensembl chr  X:20,064,103...20,072,620
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 More... NCBI chr 6:120,995,242...121,067,693
Ensembl chr 6:120,998,733...121,067,781
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
RGD
PMID:7923357 PMID:8528239 PMID:8571951 PMID:8702127 PMID:8723100 More... RGD:11068488 NCBI chr18:54,648,276...54,666,627
Ensembl chr18:54,652,951...54,666,626
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 More... NCBI chr 7:129,098,489...129,127,620
Ensembl chr 7:129,098,786...129,127,546
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 1:132,981,034...133,044,416
Ensembl chr 1:132,981,582...133,043,627
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
RGD
PMID:1908846 PMID:4697848 PMID:7649548 PMID:7670477 PMID:7758520 More... RGD:1598937, RGD:11568054 NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341
JBrowse link
G Npr2 natriuretic peptide receptor 2 ISO
ISS
DNA:missense mutation:cds:p.L885R (mouse)
OMIM:100800
MouseDO
RGD
PMID:15722353 RGD:1580771 NCBI chr 5:57,883,171...57,901,590
Ensembl chr 5:57,883,171...57,901,580
JBrowse link
G Pthlh parathyroid hormone-like hormone ISS OMIM:100800 MouseDO NCBI chr 4:180,188,792...180,199,847
Ensembl chr 4:180,188,792...180,199,847
JBrowse link
G Spred2 sprouty-related, EVH1 domain containing 2 ISS OMIM:100800 MouseDO NCBI chr14:94,226,312...94,248,162
Ensembl chr14:94,148,837...94,249,162
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 More... NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341
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 3:144,454,306...144,458,757
Ensembl chr 3:144,454,338...144,458,612
JBrowse link
G Npr2 natriuretic peptide receptor 2 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia ClinVar PMID:28492532 NCBI chr 5:57,883,171...57,901,590
Ensembl chr 5:57,883,171...57,901,580
JBrowse link
Acromesomelic Dysplasia 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bmpr1b bone morphogenetic protein receptor type 1B ISO ClinVar Annotator: match by term: Acromesomelic dysplasia, Demirhan type
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:609441
OMIM
ClinVar
CTD
PMID:15805157 PMID:22374147 PMID:24129431 PMID:25741868 PMID:25758993 More... NCBI chr 2:230,538,252...230,871,077
Ensembl chr 2:230,541,558...230,871,368
JBrowse link
Acromesomelic Dysplasia 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prkg2 protein kinase cGMP-dependent 2 ISO ClinVar Annotator: match by term: ACROMESOMELIC DYSPLASIA 4 OMIM
ClinVar
PMID:33106379 NCBI chr14:10,559,882...10,668,479
Ensembl chr14:10,559,882...10,666,888
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
RGD
PMID:9288098 PMID:12124730 PMID:12900894 PMID:17384641 PMID:25741868 More... RGD:12487346, RGD:12437083, RGD:12437075 NCBI chr 3:144,454,306...144,458,757
Ensembl chr 3:144,454,338...144,458,612
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 2:230,538,252...230,871,077
Ensembl chr 2:230,541,558...230,871,368
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 More... NCBI chr 3:144,454,306...144,458,757
Ensembl chr 3:144,454,338...144,458,612
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 More... NCBI chr 5:57,883,171...57,901,590
Ensembl chr 5:57,883,171...57,901,580
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 5:57,901,681...57,903,894
Ensembl chr 5:57,901,682...57,903,894
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:26607181 PMID:30006060 PMID:32860008 NCBI chr 2:215,997,641...216,012,833
Ensembl chr 2:215,997,649...216,012,865
JBrowse link
AMED syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 More... NCBI chr12:34,949,549...34,982,527
Ensembl chr12:34,901,219...34,982,521
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 5:57,752,509...57,756,079
Ensembl chr 5:57,752,509...57,756,109
JBrowse link
G Ca9 carbonic anhydrase 9 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 5:57,763,234...57,769,838
Ensembl chr 5:57,763,206...57,769,838
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 More... NCBI chr 5:57,749,502...57,752,920
Ensembl chr 5:57,748,999...57,752,918
JBrowse link
G Ccin calicin ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 5:58,206,676...58,208,563
Ensembl chr 5:58,206,633...58,208,951
JBrowse link
G Ccl19 C-C motif chemokine ligand 19 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 5:56,963,364...56,965,308
Ensembl chr 5:56,963,364...56,965,308
JBrowse link
G Ccl21 C-C motif chemokine ligand 21 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 5:56,980,557...56,981,661
Ensembl chr 5:56,980,558...56,981,686
JBrowse link
G Ccl27 C-C motif chemokine ligand 27 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 5:56,941,402...56,948,511
Ensembl chr 5:56,941,402...56,948,506
JBrowse link
G Cd72 Cd72 molecule ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 5:57,697,361...57,704,980
Ensembl chr 5:57,697,367...57,704,725
JBrowse link
G Clta clathrin, light chain A ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 5:58,244,253...58,263,480
Ensembl chr 5:58,245,442...58,263,472
JBrowse link
G Creb3 cAMP responsive element binding protein 3 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 5:57,817,835...57,823,171
Ensembl chr 5:57,817,832...57,824,390
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 5:57,176,840...57,185,492
Ensembl chr 5:57,176,845...57,185,490
JBrowse link
G Fam166b family with sequence similarity 166, member B ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 5:57,675,537...57,680,133
Ensembl chr 5:57,675,462...57,678,611
JBrowse link
G Fam205a family with sequence similarity 205, member A ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 5:57,065,739...57,071,880
Ensembl chr 5:57,065,747...57,071,738
JBrowse link
G Fam205c family with sequence similarity 205, member C ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 5:57,087,305...57,093,191
Ensembl chr 5:57,087,320...57,093,164
JBrowse link
G Fam214b family with sequence similarity 214, member B ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 5:57,260,839...57,274,524
Ensembl chr 5:57,260,841...57,268,892
JBrowse link
G Fam221b family with sequence similarity 221, member B ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 5:57,910,346...57,919,562
Ensembl chr 5:57,910,352...57,919,367
JBrowse link
G Fancg FA complementation group G ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 5:57,230,287...57,240,067
Ensembl chr 5:57,231,685...57,240,029
JBrowse link
G Galt galactose-1-phosphate uridylyltransferase ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 5:56,927,039...56,930,284
Ensembl chr 5:56,926,724...56,930,265
JBrowse link
G Gba2 glucosylceramidase beta 2 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 5:57,822,389...57,834,522
Ensembl chr 5:57,822,389...57,834,072
JBrowse link
G Glipr2 GLI pathogenesis-related 2 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 5:58,170,417...58,200,947
Ensembl chr 5:58,170,425...58,202,272
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 5:58,267,189...58,307,396
Ensembl chr 5:58,267,210...58,307,499
JBrowse link
G Hint2 histidine triad nucleotide binding protein 2 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 5:57,904,613...57,906,868
Ensembl chr 5:57,904,614...57,907,097
JBrowse link
G Hrct1 histidine rich carboxyl terminus 1 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 5:57,982,409...57,983,186
Ensembl chr 5:57,982,470...57,982,790
JBrowse link
G Il11ra1 interleukin 11 receptor subunit alpha 1 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 5:56,931,824...56,941,408
Ensembl chr 5:56,935,516...56,941,408
JBrowse link
G LOC100360821 rCG55159-like ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 5:57,199,931...57,203,964
Ensembl chr 5:57,200,000...57,204,070
JBrowse link
G Msmp microseminoprotein, prostate associated ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 Ensembl chr 5:57,838,935...57,839,985 JBrowse link
G Npr2 natriuretic peptide receptor 2 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 5:57,883,171...57,901,590
Ensembl chr 5:57,883,171...57,901,580
JBrowse link
G Olr834 olfactory receptor 834 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 5:57,961,391...57,962,329
Ensembl chr 5:57,960,219...57,965,853
JBrowse link
G Olr840 olfactory receptor 840 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 5:58,081,150...58,082,109
Ensembl chr 5:58,077,726...58,083,852
JBrowse link
G Phf24 PHD finger protein 24 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 5:57,143,428...57,171,054
Ensembl chr 5:57,142,632...57,168,497
JBrowse link
G Pigo phosphatidylinositol glycan anchor biosynthesis, class O ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 5:57,244,721...57,256,252
Ensembl chr 5:57,245,166...57,254,146
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 5:58,102,915...58,169,513
Ensembl chr 5:58,102,981...58,169,502
JBrowse link
G Rgp1 RGP1 homolog, RAB6A GEF complex partner 1 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 5:57,834,467...57,843,087
Ensembl chr 5:57,834,629...57,843,086
JBrowse link
G Rusc2 RUN and SH3 domain containing 2 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 5:57,628,397...57,675,524
Ensembl chr 5:57,629,904...57,675,524
JBrowse link
G Sit1 signaling threshold regulating transmembrane adaptor 1 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 5:57,740,212...57,741,838
Ensembl chr 5:57,740,218...57,741,838
JBrowse link
G Spaar small regulatory polypeptide of amino acid response ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 5:57,985,569...57,991,972 JBrowse link
G Spag8 sperm associated antigen 8 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 5:57,901,681...57,903,894
Ensembl chr 5:57,901,682...57,903,894
JBrowse link
G Stoml2 stomatin like 2 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 5:57,256,227...57,259,824
Ensembl chr 5:57,256,220...57,259,920
JBrowse link
G Tesk1 testis associated actin remodelling kinase 1 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 5:57,691,922...57,697,698
Ensembl chr 5:57,691,969...57,697,698
JBrowse link
G Tln1 talin 1 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 5:57,787,670...57,817,900
Ensembl chr 5:57,787,943...57,817,900
JBrowse link
G Tmem8b transmembrane protein 8B ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 5:57,919,473...57,948,419
Ensembl chr 5:57,919,804...57,946,772
JBrowse link
G Tpm2 tropomyosin 2 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 5:57,770,919...57,780,278
Ensembl chr 5:57,770,864...57,779,992
JBrowse link
G Unc13b unc-13 homolog B ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 5:57,288,999...57,504,110
Ensembl chr 5:57,289,227...57,502,926
JBrowse link
G Vcp valosin-containing protein ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 5:57,210,167...57,229,571
Ensembl chr 5:57,210,168...57,229,571
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 More... NCBI chr 5:57,749,502...57,752,920
Ensembl chr 5:57,748,999...57,752,918
JBrowse link
G Pop1 POP1 homolog, ribonuclease P/MRP subunit ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 7:65,705,348...65,733,143
Ensembl chr 7:65,705,368...65,733,141
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 7:65,705,348...65,733,143
Ensembl chr 7:65,705,368...65,733,141
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 Annotator: match by term: Anauxetic dysplasia 3
ClinVar
OMIM
PMID:25741868 PMID:26633546 PMID:29620724 PMID:31250547 NCBI chr11:55,958,265...55,970,432
Ensembl chr11:55,958,267...55,970,432
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 chr15:16,961,999...17,095,059
Ensembl chr15:16,962,003...17,095,006
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 5:166,456,989...166,468,733
Ensembl chr 5:166,456,686...166,468,664
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 chr11:80,365,446...80,382,641
Ensembl chr11:80,366,117...80,382,462
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 chr10:87,561,866...87,563,776
Ensembl chr10:87,561,326...87,565,334
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 PMID:28492532 NCBI chr17:11,972,830...12,148,152
Ensembl chr17:11,972,830...12,148,152
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 More... NCBI chr16:3,695,667...3,718,234
Ensembl chr16:3,697,032...3,718,234
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 3:58,509,822...58,676,774
Ensembl chr 3:58,510,536...58,676,490
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 More... NCBI chr 5:166,456,989...166,468,733
Ensembl chr 5:166,456,686...166,468,664
JBrowse link
G Dvl3 dishevelled segment polarity protein 3 ISO ClinVar Annotator: match by term: Robinow syndrome, autosomal dominant 2 ClinVar PMID:29276006 NCBI chr11:80,365,446...80,382,641
Ensembl chr11:80,366,117...80,382,462
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 chr10:87,561,866...87,563,776
Ensembl chr10:87,561,326...87,565,334
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 chr11:80,365,446...80,382,641
Ensembl chr11:80,366,117...80,382,462
JBrowse link
G Fzd2 frizzled class receptor 2 ISO ClinVar Annotator: match by term: Robinow syndrome, autosomal dominant 3 ClinVar PMID:29276006 NCBI chr10:87,561,866...87,563,776
Ensembl chr10:87,561,326...87,565,334
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 7:124,639,142...124,735,027
Ensembl chr 7:124,639,142...124,658,113
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
RGD
PMID:10932186 PMID:10932187 PMID:10986040 PMID:12815588 PMID:15952209 More... RGD:11537348, RGD:11537347, RGD:11535948 NCBI chr17:11,972,830...12,148,152
Ensembl chr17:11,972,830...12,148,152
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 chr10:61,109,323...61,247,576
Ensembl chr10:61,110,020...61,248,251
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 More... NCBI chr15:2,593,473...2,634,019
Ensembl chr15:2,593,578...2,633,503
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
RGD
PMID:8055130 PMID:18798845 PMID:21344633 PMID:22077973 PMID:23236640 More... RGD:9588484 NCBI chr15:2,638,885...2,811,977
Ensembl chr15:2,639,200...2,812,316
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 1:224,191,125...224,358,640
Ensembl chr 1:224,191,125...224,358,684
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 chr15:16,961,999...17,095,059
Ensembl chr15:16,962,003...17,095,006
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
RGD
PMID:11854318 PMID:11854319 PMID:12891678 PMID:15289765 PMID:15955952 More... RGD:12914770, RGD:11073166, RGD:12914769, RGD:12914768 NCBI chr 6:73,996,601...74,001,483
Ensembl chr 6:73,996,601...73,999,791
JBrowse link
CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Iars2 isoleucyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia OMIM
ClinVar
PMID:8409271 PMID:25130867 PMID:25741868 PMID:28328135 PMID:28492532 More... NCBI chr13:96,831,773...96,865,533
Ensembl chr13:96,831,484...96,865,501
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 chr16:7,764,983...7,835,587
Ensembl chr16:7,765,013...7,835,587
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 1:79,033,342...79,047,102
Ensembl chr 1:79,033,326...79,047,102
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
RGD
PMID:7063265 PMID:9443879 PMID:10739753 PMID:10767341 PMID:18414213 More... RGD:10401101, RGD:10401092 NCBI chr16:7,764,983...7,835,587
Ensembl chr16:7,765,013...7,835,587
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
RGD
PMID:7585650 PMID:7920640 PMID:8571952 PMID:9238033 PMID:9651581 More... RGD:1601070 NCBI chr 1:79,033,342...79,047,102
Ensembl chr 1:79,033,326...79,047,102
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:8818951 PMID:11443545 PMID:17466625 PMID:24700531 PMID:24728327 More... NCBI chr 9:46,309,477...46,354,478
Ensembl chr 9:46,309,389...46,354,472
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 PMID:33116287 NCBI chr 1:78,971,310...79,007,963
Ensembl chr 1:78,996,390...79,007,963
JBrowse link
G Polr1g RNA polymerase I subunit G ISO ClinVar Annotator: match by term: Cerebrooculofacioskeletal syndrome 4 ClinVar PMID:25741868 PMID:28492532 PMID:33116287 NCBI chr 1:79,007,490...79,010,766
Ensembl chr 1:79,007,490...79,010,766
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 1:78,971,310...79,007,963
Ensembl chr 1:78,996,390...79,007,963
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 1:79,033,342...79,047,102
Ensembl chr 1:79,033,326...79,047,102
JBrowse link
G Ercc3 ERCC excision repair 3, TFIIH core complex helicase subunit ISO RGD PMID:19114557 RGD:10401087 NCBI chr18:23,883,613...23,914,326
Ensembl chr18:23,883,580...23,914,329
JBrowse link
G Ercc5 ERCC excision repair 5, endonuclease ISO RGD PMID:15082767 RGD:10401090 NCBI chr 9:46,309,477...46,354,478
Ensembl chr 9:46,309,389...46,354,472
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)
DNA:splice-site mutation, deletion:exon, intron:c.1293_1320del, c.2709 + 1G>T (human)
DNA:insertion: :c.1034_1035insT (human)
ClinVar
CTD
RGD
PMID:9443879 PMID:10739753 PMID:10767341 PMID:18414213 PMID:18628313 More... RGD:11567232, RGD:10401100, RGD:10401095 NCBI chr16:7,764,983...7,835,587
Ensembl chr16:7,765,013...7,835,587
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
RGD
PMID:14661080 PMID:15744458 PMID:19329487 PMID:19894250 PMID:21108394 More... RGD:7246919, RGD:11064547, RGD:10401108 NCBI chr 2:39,647,393...39,686,229
Ensembl chr 2:39,647,452...39,684,859
JBrowse link
G Ghr growth hormone receptor ISO RGD PMID:17326724 RGD:10003139 NCBI chr 2:52,541,452...52,804,960
Ensembl chr 2:52,542,594...52,804,735
JBrowse link
G Igf1 insulin-like growth factor 1 ISO RGD PMID:17326724 RGD:10003139 NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296
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 More... NCBI chr 2:39,535,680...39,647,378
Ensembl chr 2:39,535,689...39,647,316
JBrowse link
G Xpa XPA, DNA damage recognition and repair factor ISO RGD PMID:19114557 RGD:10401087 NCBI chr 5:60,431,673...60,476,438
Ensembl chr 5:60,431,673...60,475,726
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
RGD
PMID:7664335 PMID:9338586 PMID:9536098 PMID:14661080 PMID:15744458 More... RGD:10401106 NCBI chr 2:39,647,393...39,686,229
Ensembl chr 2:39,647,452...39,684,859
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 More... NCBI chr 2:39,535,680...39,647,378
Ensembl chr 2:39,535,689...39,647,316
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
RGD
PMID:887325 PMID:1339317 PMID:7063265 PMID:7264357 PMID:9150142 More... RGD:126925983 NCBI chr16:7,764,983...7,835,587
Ensembl chr16:7,765,013...7,835,587
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 chr11:3,338,007...3,364,357
Ensembl chr11:3,337,494...3,385,181
JBrowse link
G Lhx3 LIM homeobox 3 ISO ClinVar Annotator: match by term: Combined Pituitary Hormone Deficiency, Recessive ClinVar NCBI chr 3:9,026,432...9,035,122
Ensembl chr 3:9,027,425...9,034,480
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 chr11:3,316,818...3,334,804
Ensembl chr11:3,317,058...3,334,801
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 More... NCBI chr10:35,271,959...35,274,434
Ensembl chr10:35,271,973...35,274,434
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 More... NCBI chr 3:9,026,432...9,035,122
Ensembl chr 3:9,027,425...9,034,480
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 More... NCBI chr13:67,726,786...67,863,392
Ensembl chr13:67,726,786...67,862,311
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 More... NCBI chr13:67,873,618...67,927,003
Ensembl chr13:67,877,109...67,927,003
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 chr13:64,904,504...64,913,413
Ensembl chr13:64,887,136...64,913,410
JBrowse link
G Atp5pd ATP synthase peripheral stalk subunit d IEP protein:altered expression:cerebral cortex (rat) RGD PMID:21575372 RGD:11049155 NCBI chr10:100,657,700...100,662,960
Ensembl chr10:100,657,708...100,663,479
JBrowse link
G Bglap bone gamma-carboxyglutamate protein IDA mRNA,protein:decreased expression:skull, serum RGD PMID:7920889 RGD:6483557 NCBI chr 2:173,838,518...173,839,495
Ensembl chr 2:173,838,518...173,839,495
JBrowse link
G Duox2 dual oxidase 2 ISO ClinVar Annotator: match by term: Congenital hypothyroidism
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
RGD
PMID:12110737 PMID:16134168 PMID:16322276 PMID:16608528 PMID:17121535 More... RGD:734905 NCBI chr 3:109,223,809...109,247,023
Ensembl chr 3:109,226,924...109,245,902
JBrowse link
G Duoxa2 dual oxidase maturation factor 2 ISO ClinVar Annotator: match by term: Congenital hypothyroidism ClinVar PMID:28492532 NCBI chr 3:109,245,476...109,248,844
Ensembl chr 3:109,245,476...109,248,968
JBrowse link
G Egr1 early growth response 1 IEP RGD PMID:23079472 RGD:10395304 NCBI chr18:26,463,333...26,465,531
Ensembl chr18:26,462,981...26,466,766
JBrowse link
G Foxe1 forkhead box E1 ISS MouseDO NCBI chr 5:60,630,027...60,632,835
Ensembl chr 5:60,630,027...60,632,835
JBrowse link
G G6pd glucose-6-phosphate dehydrogenase IEP protein:decreased expression:hippocampus RGD PMID:23693027 RGD:10449124 NCBI chr  X:152,201,081...152,220,863
Ensembl chr  X:152,201,098...152,220,801
JBrowse link
G Gh1 growth hormone 1 treatment IEP RGD PMID:21162131 RGD:10003146 NCBI chr10:91,228,102...91,230,079
Ensembl chr10:91,228,103...91,230,078
JBrowse link
G Ghr growth hormone receptor treatment IEP RGD PMID:21162131 RGD:10003146 NCBI chr 2:52,541,452...52,804,960
Ensembl chr 2:52,542,594...52,804,735
JBrowse link
G Igf1 insulin-like growth factor 1 IEP protein:decreased expression:serum (rat) RGD PMID:1718729 RGD:12910128 NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296
JBrowse link
G Igsf1 immunoglobulin superfamily, member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23143598 NCBI chr  X:129,069,891...129,085,331
Ensembl chr  X:129,069,896...129,085,139
JBrowse link
G Inhbb inhibin subunit beta B IEP mRNA:decreased expression:testes (rat) RGD PMID:7819453 RGD:9743921 NCBI chr13:30,530,860...30,536,566
Ensembl chr13:30,530,860...30,537,832
JBrowse link
G Iyd iodotyrosine deiodinase ISO ClinVar Annotator: match by term: Congenital hypothyroidism ClinVar NCBI chr 1:40,003,999...40,019,323
Ensembl chr 1:40,004,041...40,019,319
JBrowse link
G Nefh neurofilament heavy chain IDA protein:decreased expression, increased phosphorylation RGD PMID:18845185 RGD:9693732 NCBI chr14:79,830,362...79,840,347
Ensembl chr14:79,830,362...79,840,351
JBrowse link
G Nefl neurofilament light chain IDA protein:decreased expression, increased phosphorylation RGD PMID:18845185 RGD:9693732 NCBI chr15:42,301,920...42,305,793
Ensembl chr15:42,301,916...42,305,793
JBrowse link
G Nefm neurofilament medium chain IDA protein:decreased expression, increased phosphorylation RGD PMID:18845185 RGD:9693732 NCBI chr15:42,360,449...42,365,753
Ensembl chr15:42,360,454...42,365,755
JBrowse link
G Ngfr nerve growth factor receptor treatment IEP RGD PMID:23312094 RGD:10414076 NCBI chr10:80,515,287...80,533,518
Ensembl chr10:80,515,299...80,533,518
JBrowse link
G Pax8 paired box 8 ISO
ISS
nongoitrous congenital hypothyroidism 2, OMIM:218700
ClinVar Annotator: match by term: Congenital hypothyroidism
ClinVar
MouseDO
RGD
PMID:16763387 PMID:25146893 PMID:26362610 PMID:9590296 RGD:1600298 NCBI chr 3:7,185,721...7,242,363
Ensembl chr 3:7,185,723...7,242,363
JBrowse link
G Ppargc1a PPARG coactivator 1 alpha IEP mRNA:decreased expression:cerebellum (rat) RGD PMID:20515651 RGD:10059677 NCBI chr14:58,860,752...59,516,525
Ensembl chr14:58,861,144...59,512,656
JBrowse link
G Runx2 RUNX family transcription factor 2 ISS MouseDO NCBI chr 9:16,167,504...16,492,826
Ensembl chr 9:16,167,482...16,492,167
JBrowse link
G Slc26a4 solute carrier family 26 member 4 ISO ClinVar Annotator: match by term: Congenital hypothyroidism ClinVar NCBI chr 6:48,107,575...48,153,762
Ensembl chr 6:48,107,588...48,145,703
JBrowse link
G Slc26a7 solute carrier family 26 member 7 ISO ClinVar Annotator: match by term: Congenital hypothyroidism ClinVar PMID:31372509 NCBI chr 5:27,884,400...28,021,865
Ensembl chr 5:27,887,042...28,021,658
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
RGD
PMID:3998954 PMID:10487695 PMID:9171822 RGD:1624273 NCBI chr16:18,546,709...18,556,698
Ensembl chr16:18,546,709...18,556,697
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 More... NCBI chr 7:98,418,293...98,603,210
Ensembl chr 7:98,418,293...98,603,210
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
RGD
PMID:12564727 PMID:14751036 PMID:16187919 PMID:17381485 PMID:25741868 More... RGD:1599648 NCBI chr 6:46,698,402...46,768,199
Ensembl chr 6:46,698,414...46,768,199
JBrowse link
G Trhr thyrotropin releasing hormone receptor ISS MouseDO NCBI chr 7:75,348,672...75,393,310
Ensembl chr 7:75,348,672...75,393,309
JBrowse link
G Tshb thyroid stimulating hormone subunit beta ISO ClinVar Annotator: match by term: Congenital hypothyroidism ClinVar PMID:25741868 NCBI chr 2:190,224,676...190,229,559
Ensembl chr 2:190,224,676...190,229,559
JBrowse link
G Tshr thyroid stimulating hormone receptor ISO
IMP
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital hypothyroidism
CTD
ClinVar
RGD
PMID:11442002 PMID:12629076 PMID:15693879 PMID:17526952 PMID:19158199 More... RGD:150521601 NCBI chr 6:110,341,585...110,475,297
Ensembl chr 6:110,341,581...110,474,538
JBrowse link
G Tshrem1Mlit thyroid stimulating hormone receptor; CRISPR/Cas9 induced mutant 1, Mlit IMP RGD PMID:29507327 RGD:150521601
G Tubb1 tubulin, beta 1 class VI ISO ClinVar Annotator: match by term: Congenital hypothyroidism ClinVar NCBI chr 3:163,247,990...163,257,460
Ensembl chr 3:163,247,967...163,256,063
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 More... NCBI chr 6:109,951,009...110,328,686
Ensembl chr 6:109,951,061...110,328,713
JBrowse link
G Tshr thyroid stimulating hormone receptor treatment ISO
IMP
ClinVar Annotator: match by term: TSH RESISTANCE ClinVar
RGD
PMID:1955520 PMID:9385128 PMID:10037069 PMID:17062880 PMID:24728327 More... RGD:150521601 NCBI chr 6:110,341,585...110,475,297
Ensembl chr 6:110,341,581...110,474,538
JBrowse link
G Tshrem1Mlit thyroid stimulating hormone receptor; CRISPR/Cas9 induced mutant 1, Mlit treatment IMP RGD PMID:29507327 RGD:150521601
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 More... NCBI chr 6:109,951,009...110,328,686
Ensembl chr 6:109,951,061...110,328,713
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 More... NCBI chr 6:110,341,585...110,475,297
Ensembl chr 6:110,341,581...110,474,538
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 More... NCBI chr 3:7,185,721...7,242,363
Ensembl chr 3:7,185,723...7,242,363
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 More... NCBI chr 2:190,224,676...190,229,559
Ensembl chr 2:190,224,676...190,229,559
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 More... NCBI chr10:16,340,428...16,347,004
Ensembl chr10:16,344,159...16,346,934
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 PMID:34008892 NCBI chr10:83,728,348...83,735,562
Ensembl chr10:83,728,318...83,735,705
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 More... NCBI chr10:83,701,885...83,729,408
Ensembl chr10:83,700,755...83,729,936
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 7:75,348,672...75,393,310
Ensembl chr 7:75,348,672...75,393,309
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:41,574,558...41,731,117
Ensembl chr  X:41,576,047...41,731,101
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:105,344,016...105,359,985 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 More... NCBI chr16:7,764,983...7,835,587
Ensembl chr16:7,765,013...7,835,587
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 chr10:103,637,079...103,650,240
Ensembl chr10:103,531,504...103,650,109
JBrowse link
G Xylt1 xylosyltransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:171,643,925...171,929,774
Ensembl chr 1:171,643,925...171,926,783
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 More... NCBI chr10:103,637,079...103,650,240
Ensembl chr10:103,531,504...103,650,109
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 More... NCBI chr 1:171,643,925...171,929,774
Ensembl chr 1:171,643,925...171,926,783
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 More... NCBI chr 1:171,643,925...171,929,774
Ensembl chr 1:171,643,925...171,926,783
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
RGD
PMID:702237 PMID:4644462 PMID:7923357 PMID:8528239 PMID:8571951 More... RGD:13208932, RGD:13208867 NCBI chr18:54,648,276...54,666,627
Ensembl chr18:54,652,951...54,666,626
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 chr18:54,648,276...54,666,627
Ensembl chr18:54,652,951...54,666,626
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 More... NCBI chr18:68,605,131...68,900,905
Ensembl chr18:68,605,185...68,900,903
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 7:68,400,287...68,530,269
Ensembl chr 7:68,400,477...68,530,258
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 More... NCBI chr 3:109,223,809...109,247,023
Ensembl chr 3:109,226,924...109,245,902
JBrowse link
G Slc5a5 solute carrier family 5 member 5 ISO ClinVar Annotator: match by term: Thyroid Hormonogenesis Defect ClinVar NCBI chr16:18,546,709...18,556,698
Ensembl chr16:18,546,709...18,556,697
JBrowse link
G Tg thyroglobulin ISO ClinVar Annotator: match by term: Thyroid dyshormonogenesis ClinVar NCBI chr 7:98,418,293...98,603,210
Ensembl chr 7:98,418,293...98,603,210
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 2:201,820,715...202,013,853
Ensembl chr 2:201,820,715...202,013,853
JBrowse link
G Col11a2 collagen type XI alpha 2 chain ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr20:4,786,929...4,816,598
Ensembl chr20:4,786,929...4,815,985
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:7695699 PMID:8218237 PMID:9536098 PMID:10486316 PMID:10612821 More... NCBI chr 2:201,820,715...202,013,853
Ensembl chr 2:201,820,715...202,013,853
JBrowse link
G Col11a2 collagen type XI alpha 2 chain ISO ClinVar Annotator: match by term: Fibrochondrogenesis 1 ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr20:4,786,929...4,816,598
Ensembl chr20:4,786,929...4,815,985
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 More... NCBI chr20:4,786,929...4,816,598
Ensembl chr20:4,786,929...4,815,985
JBrowse link
fibular hypoplasia and complex brachydactyly 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: Fibular hypoplasia and complex brachydactyly
DNA:missense mutation:cds:T1322C (p.L441P)(human)
ClinVar Annotator: match by OMIM:228900
OMIM
ClinVar
RGD
PMID:12121354 PMID:16014698 PMID:16127465 PMID:16222676 PMID:17384641 More... RGD:12437084 NCBI chr 3:144,454,306...144,458,757
Ensembl chr 3:144,454,338...144,458,612
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 chr13:75,745,678...75,762,307
Ensembl chr13:75,745,680...75,762,298
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 More... NCBI chr10:85,704,841...85,775,856
Ensembl chr10:85,705,670...85,775,668
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 chr10:85,704,841...85,775,856
Ensembl chr10:85,705,670...85,775,668
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 More... NCBI chr19:15,284,898...15,692,142
Ensembl chr19:15,349,696...15,692,083
JBrowse link
G Rpgrip1l Rpgrip1-like ISO ClinVar Annotator: match by term: Growth retardation, developmental delay, coarse facies, and early death ClinVar NCBI chr19:15,692,189...15,785,083
Ensembl chr19:15,692,150...15,785,083
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
RGD
PMID:1908846 PMID:4697848 PMID:7670477 PMID:7773297 PMID:8078586 More... RGD:11568026 NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341
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 More... NCBI chr 2:52,541,452...52,804,960
Ensembl chr 2:52,542,594...52,804,735
JBrowse link
G Ghsr growth hormone secretagogue receptor ISO ClinVar Annotator: match by term: Short stature, idiopathic, autosomal ClinVar NCBI chr 2:110,268,489...110,271,865
Ensembl chr 2:110,268,489...110,271,865
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 chr10:13,897,468...13,903,920
Ensembl chr10:13,898,395...13,902,677
JBrowse link
G Spag17 sperm associated antigen 17 ISO DNA:snp:enhancer:C>G (rs17038182) (human) RGD PMID:19893584 RGD:11535959 NCBI chr 2:187,264,004...187,511,061
Ensembl chr 2:187,264,009...187,510,501
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
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 4:11,360,169...11,401,139
Ensembl chr 4:11,360,188...11,401,172
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 4:123,168,719...123,488,300
Ensembl chr 4:123,168,719...123,488,172
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 chr20:32,568,417...32,739,449
Ensembl chr20:32,572,741...32,739,516
JBrowse link
G Gh1 growth hormone 1 ISO
IAGP
DNA:deletions: :
ClinVar Annotator: match by term: Growth hormone deficiency
ClinVar
RGD
PMID:9152628 PMID:12655556 PMID:12655557 PMID:13572267 PMID:15001589 More... RGD:12904703, RGD:1578505 NCBI chr10:91,228,102...91,230,079
Ensembl chr10:91,228,103...91,230,078
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 2:52,541,452...52,804,960
Ensembl chr 2:52,542,594...52,804,735
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
RGD
PMID:8528260 PMID:9845677 RGD:1601337, RGD:1601338 NCBI chr 4:84,498,159...84,532,847
Ensembl chr 4:84,500,212...84,532,776
JBrowse link
G Ghsr growth hormone secretagogue receptor IEP mRNA:increased expression:pituitary: RGD PMID:9822798 RGD:12904721 NCBI chr 2:110,268,489...110,271,865
Ensembl chr 2:110,268,489...110,271,865
JBrowse link
G Hpca hippocalcin ISO protein:altered expression:cerebral cortex, cerebellum, hippocampus (mouse) RGD PMID:7882001 RGD:9693682 NCBI chr 5:141,455,616...141,466,252
Ensembl chr 5:141,455,613...141,463,841
JBrowse link
G Igfals insulin-like growth factor binding protein, acid labile subunit ISO protein:decreased expression:serum RGD PMID:11248743 RGD:12910859 NCBI chr10:13,897,468...13,903,920
Ensembl chr10:13,898,395...13,902,677
JBrowse link
G Pln phospholamban ISO ClinVar Annotator: match by term: Growth hormone deficiency ClinVar NCBI chr20:32,629,537...32,639,559 JBrowse link
G Pou1f1 POU class 1 homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9392392 NCBI chr11:3,316,818...3,334,804
Ensembl chr11:3,317,058...3,334,801
JBrowse link
G Rnpc3 RNA-binding region (RNP1, RRM) containing 3 ISO ClinVar Annotator: match by term: Growth hormone deficiency ClinVar PMID:24480542 PMID:29255062 NCBI chr 2:201,432,769...201,457,015
Ensembl chr 2:201,432,684...201,456,747
JBrowse link
G Tg thyroglobulin IAGP RGD PMID:11089535 PMID:3366187 RGD:730133, RGD:12880373 NCBI chr 7:98,418,293...98,603,210
Ensembl chr 7:98,418,293...98,603,210
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: Growth hormone deficiency, isolated autosomal recessive ClinVar PMID:24389050 PMID:25558065 NCBI chr12:59,492...103,789
Ensembl chr12:59,819...100,567
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 6:7,581,428...7,589,384
Ensembl chr 6:7,580,703...7,589,399
JBrowse link
G Dna2 DNA replication helicase/nuclease 2 ISO DNA:mutation:cds: RGD PMID:24389050 RGD:8694132 NCBI chr20:25,661,652...25,690,598
Ensembl chr20:25,662,055...25,716,319
JBrowse link
G