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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: DISPROPORTIONATE SHORT STATURE;   SD2;   Skeletal dysplasia 2
 primary_id: MESH:D004392
 alt_id: OMIA:001772
 xref: HP:0004322

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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 Abcc8 ATP binding cassette subfamily C member 8 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:16613899 PMID:16885549 PMID:18025408 PMID:18981553 PMID:21989597 More... NCBI chrNW_004624766:9,018,616...9,092,365
Ensembl chrNW_004624766:9,018,721...9,092,287 		JBrowse link
G Abcg4 ATP binding cassette subfamily G member 4 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chrNW_004624784:14,529,957...14,545,125
Ensembl chrNW_004624784:14,529,976...14,545,246 		JBrowse link
G Acan aggrecan ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chrNW_004624768:16,093,552...16,156,655 JBrowse link
G Acrv1 acrosomal vesicle protein 1 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chrNW_004624927:1,645,923...1,653,291 JBrowse link
G Actb actin beta ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:25741868 NCBI chrNW_004624740:28,087,051...28,090,359
Ensembl chrNW_004624740:28,087,736...28,090,512 		JBrowse link
G Adamts15 ADAM metallopeptidase with thrombospondin type 1 motif 15 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chrNW_004624812:4,814,753...4,839,843
Ensembl chrNW_004624812:4,814,644...4,839,944 		JBrowse link
G Adamts8 ADAM metallopeptidase with thrombospondin type 1 motif 8 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chrNW_004624812:4,775,240...4,795,841 JBrowse link
G Adgrb3 adhesion G protein-coupled receptor B3 ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chrNW_004624753:26,284,931...26,980,937
Ensembl chrNW_004624753:26,287,621...26,980,325 		JBrowse link
G Aff2 ALF transcription elongation factor 2 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:25741868 NCBI chrNW_004624883:1,140,660...1,615,672
Ensembl chrNW_004624883:1,140,886...1,611,330 		JBrowse link
G Alg12 ALG12 alpha-1,6-mannosyltransferase ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chrNW_004624752:745,133...754,055
Ensembl chrNW_004624752:732,648...754,146 		JBrowse link
G Aloxe3 arachidonate lipoxygenase 3 ISO ClinVar Annotator: match by term: Disproportionate short stature ClinVar PMID:25741868 NCBI chrNW_004624786:10,666,255...10,689,204
Ensembl chrNW_004624786:10,666,423...10,688,376 		JBrowse link
G Ammecr1 AMMECR nuclear protein 1 ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chrNW_004624803:5,596,475...5,727,889
Ensembl chrNW_004624803:5,596,446...5,727,965 		JBrowse link
G Angpt2 angiopoietin 2 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:25741868 PMID:26467025 PMID:28492532 PMID:32714618 NCBI chrNW_004624861:4,457,519...4,510,035
Ensembl chrNW_004624861:4,457,158...4,509,623 		JBrowse link
G Anks3 ankyrin repeat and sterile alpha motif domain containing 3 ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chrNW_004624824:2,478,608...2,507,287
Ensembl chrNW_004624824:2,478,608...2,505,257 		JBrowse link
G Aplp2 amyloid beta precursor like protein 2 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chrNW_004624812:4,490,798...4,571,500
Ensembl chrNW_004624812:4,490,798...4,571,623 		JBrowse link
G Apoa1 apolipoprotein A1 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chrNW_004624784:12,249,283...12,251,215
Ensembl chrNW_004624784:12,249,283...12,251,136 		JBrowse link
G Apoa4 apolipoprotein A4 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chrNW_004624784:12,237,329...12,240,013
Ensembl chrNW_004624784:12,233,593...12,239,763 		JBrowse link
G Apoa5 apolipoprotein A5 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chrNW_004624784:12,213,205...12,216,039
Ensembl chrNW_004624784:12,213,744...12,216,026 		JBrowse link
G Apoc3 apolipoprotein C3 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chrNW_004624784:12,244,565...12,246,790
Ensembl chrNW_004624784:12,244,646...12,246,790 		JBrowse link
G Arcn1 archain 1 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chrNW_004624784:13,973,631...14,011,921
Ensembl chrNW_004624784:13,973,551...14,013,693 		JBrowse link
G Arhgap32 Rho GTPase activating protein 32 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chrNW_004624812:3,278,564...3,474,004
Ensembl chrNW_004624812:3,282,299...3,597,436 		JBrowse link
G Arhgef12 Rho guanine nucleotide exchange factor 12 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chrNW_004624784:15,693,044...15,784,171 JBrowse link
G Atp5mg ATP synthase membrane subunit g ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chrNW_004624784:13,794,610...13,802,056
Ensembl chrNW_004624784:13,794,685...13,802,056 		JBrowse link
G Bace1 beta-secretase 1 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chrNW_004624784:12,725,419...12,759,530
Ensembl chrNW_004624784:12,725,063...12,759,637 		JBrowse link
G Barx2 BARX homeobox 2 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chrNW_004624812:3,720,302...3,802,630
Ensembl chrNW_004624812:3,720,303...3,802,701 		JBrowse link
G Bcl9l BCL9 like ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chrNW_004624784:14,298,843...14,328,351
Ensembl chrNW_004624784:14,298,841...14,328,592 		JBrowse link
G Brd4 bromodomain containing 4 ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chrNW_004624901:2,348,218...2,434,429
Ensembl chrNW_004624901:2,346,734...2,380,852 		JBrowse link
G Bsx brain specific homeobox ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chrNW_004624880:2,128,744...2,137,465
Ensembl chrNW_004624880:2,131,722...2,135,685 		JBrowse link
G Bud13 BUD13 homolog ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chrNW_004624784:12,177,766...12,198,725
Ensembl chrNW_004624784:12,174,393...12,197,738 		JBrowse link
G C1qtnf5 C1q and TNF related 5 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chrNW_004624784:14,707,453...14,709,609
Ensembl chrNW_004624784:14,707,453...14,708,954 		JBrowse link
G C2cd2l C2CD2 like ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chrNW_004624784:14,489,638...14,498,617
Ensembl chrNW_004624784:14,489,478...14,501,175 		JBrowse link
G Cadm1 cell adhesion molecule 1 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chrNW_004624784:10,595,876...10,933,024
Ensembl chrNW_004624784:10,591,824...10,932,981 		JBrowse link
G Cant1 calcium activated nucleotidase 1 ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chrNW_004624801:8,326,928...8,341,231
Ensembl chrNW_004624801:8,326,220...8,341,240 		JBrowse link
G Cbl Cbl proto-oncogene ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chrNW_004624784:14,577,582...14,671,816
Ensembl chrNW_004624784:14,577,515...14,667,575 		JBrowse link
G Ccdc120 coiled-coil domain containing 120 ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chrNW_004624893:824,834...841,786
Ensembl chrNW_004624893:831,833...841,884 		JBrowse link
G Ccdc15 coiled-coil domain containing 15 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chrNW_004624927:963,083...1,105,668
Ensembl chrNW_004624927:962,958...1,084,156 		JBrowse link
G Ccn2 cellular communication network factor 2 ISO RGD PMID:11237711 RGD:734846 NCBI chrNW_004624753:6,022,033...6,024,866
Ensembl chrNW_004624753:6,023,069...6,024,833 		JBrowse link
G Cd3d CD3d molecule ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chrNW_004624784:13,733,465...13,754,248
Ensembl chrNW_004624784:13,733,403...13,737,356 		JBrowse link
G Cd3e CD3e molecule ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chrNW_004624784:13,714,667...13,726,881
Ensembl chrNW_004624784:13,712,920...13,726,950 		JBrowse link
G Cd3g CD3g molecule ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chrNW_004624784:13,738,424...13,748,311
Ensembl chrNW_004624784:13,738,686...13,748,415 		JBrowse link
G Cdon cell adhesion associated, oncogene regulated ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chrNW_004624812:107,632...203,791
Ensembl chrNW_004624812:109,405...203,519 		JBrowse link
G Cenatac centrosomal AT-AC splicing factor ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chrNW_004624784:14,395,330...14,407,122
Ensembl chrNW_004624784:14,394,981...14,407,122 		JBrowse link
G Cep164 centrosomal protein 164 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chrNW_004624784:12,754,685...12,837,440
Ensembl chrNW_004624784:12,773,870...12,836,107 		JBrowse link
G Cep76 centrosomal protein 76 ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chrNW_004624770:19,765,633...19,787,733
Ensembl chrNW_004624770:19,766,688...19,787,714 		JBrowse link
G Chd1l chromodomain helicase DNA binding protein 1 like ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:25741868 NCBI chrNW_004624772:16,178,080...16,241,869
Ensembl chrNW_004624772:16,178,139...16,241,624 		JBrowse link
G Chek1 checkpoint kinase 1 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chrNW_004624927:1,609,404...1,643,409
Ensembl chrNW_004624927:1,610,878...1,643,409 		JBrowse link
G Clasp1 cytoplasmic linker associated protein 1 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:12409455 PMID:21474760 PMID:21990275 PMID:22581640 PMID:23794361 More... NCBI chrNW_004624732:23,553,876...23,814,565
Ensembl chrNW_004624732:23,581,356...23,811,640 		JBrowse link
G Clgn calmegin ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chrNW_004625006:28,014...88,801
Ensembl chrNW_004625006:30,037...88,167 		JBrowse link
G Clic4 chloride intracellular channel 4 ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chrNW_004624764:9,088,352...9,149,194 JBrowse link
G Clip1 CAP-Gly domain containing linker protein 1 ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chrNW_004624747:22,481,304...22,596,779
Ensembl chrNW_004624747:22,481,196...22,598,038 		JBrowse link
G Clmp CXADR like membrane protein ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chrNW_004624880:1,965,264...2,063,241
Ensembl chrNW_004624880:1,965,476...2,059,420 		JBrowse link
G Col11a1 collagen type XI alpha 1 chain ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004624857:5,817,472...6,176,421
Ensembl chrNW_004624857:5,817,475...6,029,107 		JBrowse link
G Col11a2 collagen type XI alpha 2 chain ISO Skeletal dysplasia 2, COL11A2-related OMIA PMID:23527306 NCBI chrNW_004624754:23,614,486...23,640,489
Ensembl chrNW_004624754:23,614,570...23,639,591 		JBrowse link
G Col2a1 collagen type II alpha 1 chain ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:25741868 NCBI chrNW_004624816:4,273,969...4,304,519
Ensembl chrNW_004624816:4,274,219...4,304,513 		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:22266148 More... NCBI chrNW_004624730:2,569,510...2,599,959 JBrowse link
G Cpz carboxypeptidase Z ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chrNW_004624755:24,069,650...24,088,180
Ensembl chrNW_004624755:24,075,939...24,088,088 		JBrowse link
G Crtam cytotoxic and regulatory T cell molecule ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chrNW_004624880:2,229,201...2,240,068 JBrowse link
G Cul4b cullin 4B ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:8135271 PMID:17236139 PMID:17273978 PMID:25741868 NCBI chrNW_004624931:431,835...568,609 JBrowse link
G Cul7 cullin 7 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004624754:16,454,304...16,472,721
Ensembl chrNW_004624754:16,459,134...16,472,675 		JBrowse link
G Cxcr5 C-X-C motif chemokine receptor 5 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chrNW_004624784:14,285,998...14,298,679
Ensembl chrNW_004624784:14,286,355...14,297,383 		JBrowse link
G Dcps decapping enzyme, scavenger ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chrNW_004624812:456,758...499,262
Ensembl chrNW_004624812:456,812...500,015 		JBrowse link
G Ddx25 DEAD-box helicase 25 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chrNW_004624812:53,129...74,073
Ensembl chrNW_004624812:52,368...74,149 		JBrowse link
G Ddx6 DEAD-box helicase 6 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chrNW_004624784:14,142,051...14,178,845
Ensembl chrNW_004624784:14,142,051...14,178,868 		JBrowse link
G Dennd4b DENN domain containing 4B ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:25741868 NCBI chrNW_004624885:3,277,793...3,291,701
Ensembl chrNW_004624885:3,278,578...3,290,980 		JBrowse link
G Dhx34 DExH-box helicase 34 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:31256877 NCBI chrNW_004624832:6,384,317...6,400,622
Ensembl chrNW_004624832:6,384,317...6,400,612 		JBrowse link
G Dnah17 dynein axonemal heavy chain 17 ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chrNW_004624801:7,901,329...8,015,433
Ensembl chrNW_004624801:7,901,503...8,013,303 		JBrowse link
G Dnmt3a DNA methyltransferase 3 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:30478443 NCBI chrNW_004624738:7,481,084...7,581,332
Ensembl chrNW_004624738:7,485,842...7,581,056 		JBrowse link
G Donson DNA replication fork stabilization factor DONSON ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:25741868 PMID:28191891 PMID:28331220 PMID:28492532 PMID:31407851 NCBI chrNW_004624745:21,798,712...21,807,657
Ensembl chrNW_004624745:21,798,075...21,807,556 		JBrowse link
G Dpagt1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chrNW_004624784:14,478,276...14,483,814
Ensembl chrNW_004624784:14,478,276...14,483,763 		JBrowse link
G Drc12 dynein regulatory complex subunit 12 homolog ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chrNW_004624784:14,568,801...14,572,498
Ensembl chrNW_004624784:14,568,858...14,572,508 		JBrowse link
G Dscaml1 DS cell adhesion molecule like 1 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chrNW_004624784:12,853,870...13,183,224
Ensembl chrNW_004624784:12,854,420...13,183,132 		JBrowse link
G Dvl3 dishevelled segment polarity protein 3 ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chrNW_004624730:72,396,437...72,412,260
Ensembl chrNW_004624730:72,396,343...72,413,175 		JBrowse link
G Edem3 ER degradation enhancing alpha-mannosidase like protein 3 ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chrNW_004624814:8,839,016...8,924,161
Ensembl chrNW_004624814:8,838,997...8,922,936 		JBrowse link
G Ei24 EI24 autophagy associated transmembrane protein ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chrNW_004624927:1,548,544...1,566,108 JBrowse link
G Ets1 ETS proto-oncogene 1, transcription factor ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chrNW_004624812:2,795,961...2,920,263
Ensembl chrNW_004624812:2,795,686...2,920,274 		JBrowse link
G Fam111a FAM111 trypsin like peptidase A ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004624864:1,518,454...1,532,126
Ensembl chrNW_004624864:1,521,966...1,525,962 		JBrowse link
G Fam118b family with sequence similarity 118 member B ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chrNW_004624812:366,432...416,408
Ensembl chrNW_004624812:366,476...416,408 		JBrowse link
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:21683322 PMID:25741868 PMID:27245183 PMID:28492532 NCBI chrNW_004624731:11,086,240...11,318,111
Ensembl chrNW_004624731:11,086,844...11,318,102 		JBrowse link
G Fbrs fibrosin ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chrNW_004624782:13,789,255...13,799,948 JBrowse link
G Fez1 fasciculation and elongation protein zeta 1 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chrNW_004624927:1,470,218...1,512,780
Ensembl chrNW_004624927:1,469,025...1,512,790 		JBrowse link
G Fgf18 fibroblast growth factor 18 ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chrNW_004624733:18,599,186...18,633,065
Ensembl chrNW_004624733:18,599,557...18,633,016 		JBrowse link
G Fgfr3 fibroblast growth factor receptor 3 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:1908846 PMID:7670477 PMID:7773297 PMID:8589686 PMID:8640234 More... NCBI chrNW_004624755:25,633,690...25,647,361
Ensembl chrNW_004624755:25,635,165...25,646,932 		JBrowse link
G Fkbp10 FKBP prolyl isomerase 10 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:20362275 PMID:20839288 PMID:21567934 PMID:22689593 PMID:22949511 More... NCBI chrNW_004624795:1,936,714...1,942,667
Ensembl chrNW_004624795:1,937,173...1,942,483 		JBrowse link
G Fli1 Fli-1 proto-oncogene, ETS transcription factor ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chrNW_004624812:3,004,631...3,138,901
Ensembl chrNW_004624812:3,004,628...3,139,101 		JBrowse link
G Flna filamin A ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:3265608 PMID:6019437 PMID:11704759 PMID:11992261 PMID:12612583 More... NCBI chrNW_004624946:812,278...836,307
Ensembl chrNW_004624946:812,287...837,273 		JBrowse link
G Flnb filamin B ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chrNW_004624821:691,291...835,244
Ensembl chrNW_004624821:691,272...836,322 		JBrowse link
G Foxr1 forkhead box R1 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chrNW_004624784:14,369,372...14,382,191
Ensembl chrNW_004624784:14,369,166...14,383,902 		JBrowse link
G Foxred1 FAD dependent oxidoreductase domain containing 1 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chrNW_004624812:423,000...429,660
Ensembl chrNW_004624812:423,109...433,466 		JBrowse link
G Fxyd2 FXYD domain containing ion transport regulator 2 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chrNW_004624784:13,198,308...13,209,780
Ensembl chrNW_004624784:13,200,018...13,206,131 		JBrowse link
G Fxyd6 FXYD domain containing ion transport regulator 6 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chrNW_004624784:13,213,579...13,252,710
Ensembl chrNW_004624784:13,213,457...13,253,400 		JBrowse link
G Fzd2 frizzled class receptor 2 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:28492532 NCBI chrNW_004624795:577,350...584,110
Ensembl chrNW_004624795:578,571...580,235 		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 chrNW_004624795:1,331,592...1,339,575
Ensembl chrNW_004624795:1,331,601...1,339,580 		JBrowse link
G Gabre gamma-aminobutyric acid type A receptor subunit epsilon ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chrNW_004624883:3,278,786...3,297,417
Ensembl chrNW_004624883:3,278,737...3,294,198 		JBrowse link
G Ghr growth hormone receptor treatment ISO DNA:deletion:exon:
ClinVar Annotator: match by term: Short stature		 RGD
ClinVar		 PMID:10984309 PMID:22026923 PMID:25741868 PMID:28492532 RGD:11566042 NCBI chrNW_004624759:12,282,295...12,570,106
Ensembl chrNW_004624759:12,285,594...12,570,906 		JBrowse link
G Ghrl ghrelin and obestatin prepropeptide ISO protein:increased expression:serum: RGD PMID:20861603 RGD:12904881 NCBI chrNW_004624731:5,257,813...5,262,878
Ensembl chrNW_004624731:5,257,830...5,262,473 		JBrowse link
G Ghsr growth hormone secretagogue receptor ISO DNA:mutations: : RGD PMID:7968381 PMID:21084395 RGD:12904884 RGD:12910126 NCBI chrNW_004624730:50,484,763...50,492,443
Ensembl chrNW_004624730:50,488,887...50,492,405 		JBrowse link
G Gnai2 G protein subunit alpha i2 ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chrNW_004624730:4,096,061...4,126,538
Ensembl chrNW_004624730:4,103,905...4,126,737 		JBrowse link
G Gramd1b GRAM domain containing 1B ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chrNW_004624880:1,520,450...1,703,352
Ensembl chrNW_004624880:1,525,448...1,787,054 		JBrowse link
G Greb1l GREB1 like retinoic acid receptor coactivator ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chrNW_004624770:10,223,131...10,471,309
Ensembl chrNW_004624770:10,225,669...10,345,173 		JBrowse link
G Grik4 glutamate ionotropic receptor kainate type subunit 4 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chrNW_004624880:4,250,322...4,583,742
Ensembl chrNW_004624880:4,250,763...4,580,177 		JBrowse link
G Hapln1 hyaluronan and proteoglycan link protein 1 ISO CTD Direct Evidence: marker/mechanism RGD
CTD		 PMID:9988279 RGD:734826 NCBI chrNW_004624743:3,789,999...3,855,142
Ensembl chrNW_004624743:3,789,757...3,855,107 		JBrowse link
G Hepacam hepatic and glial cell adhesion molecule ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chrNW_004624927:922,272...939,429
Ensembl chrNW_004624927:919,908...939,762 		JBrowse link
G Hes7 hes family bHLH transcription factor 7 ISO ClinVar Annotator: match by term: Disproportionate short stature ClinVar PMID:25741868 NCBI chrNW_004624786:10,692,329...10,699,346
Ensembl chrNW_004624786:10,692,329...10,695,132 		JBrowse link
G Hinfp histone H4 transcription factor ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chrNW_004624784:14,502,600...14,514,012
Ensembl chrNW_004624784:14,502,554...14,513,567 		JBrowse link
G Hkdc1 hexokinase domain containing 1 ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chrNW_004624754:3,511,947...3,556,131
Ensembl chrNW_004624754:3,511,730...3,556,184 		JBrowse link
G Hmbs hydroxymethylbilane synthase ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chrNW_004624784:14,467,515...14,474,954
Ensembl chrNW_004624784:14,467,533...14,474,954 		JBrowse link
G Hook3 hook microtubule tethering protein 3 ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chrNW_004624780:127,718...237,701
Ensembl chrNW_004624780:127,090...235,648 		JBrowse link
G Hspa8 heat shock protein family A (Hsp70) member 8 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chrNW_004624880:2,070,410...2,075,069
Ensembl chrNW_004624880:2,070,523...2,079,421 		JBrowse link
G Hyls1 HYLS1 centriolar and ciliogenesis associated ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chrNW_004624812:37,055...49,908
Ensembl chrNW_004624812:36,963...51,411 		JBrowse link
G Hyou1 hypoxia up-regulated 1 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chrNW_004624784:14,427,297...14,439,027
Ensembl chrNW_004624784:14,427,130...14,439,038 		JBrowse link
G Hypm huntingtin interacting protein M ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chrNW_004624762:17,577,088...17,577,662 JBrowse link
G Ift46 intraflagellar transport 46 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chrNW_004624784:13,938,917...13,954,729
Ensembl chrNW_004624784:13,939,533...13,950,545 		JBrowse link
G Ift81 intraflagellar transport 81 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:28492532 NCBI chrNW_004624747:21,624,322...21,698,195
Ensembl chrNW_004624747:21,624,862...21,698,202 		JBrowse link
G Igf1 insulin like growth factor 1 ISO DNA:nonsense mutation,haploinsufficiency :cds:
protein:decreased expression:plasma (rat)		 RGD PMID:20102388 PMID:20668042 RGD:12904931 RGD:8548823 NCBI chrNW_004624750:5,881,065...5,954,799
Ensembl chrNW_004624750:5,881,091...5,952,300 		JBrowse link
G Igf1r insulin like growth factor 1 receptor ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chrNW_004624768:5,396,027...5,688,435
Ensembl chrNW_004624768:5,396,156...5,681,809 		JBrowse link
G Igfbp3 insulin like growth factor binding protein 3 ISO associated with Anemia, Sickle Cell; RGD PMID:17396438 RGD:12743603 NCBI chrNW_004624740:6,878,818...6,886,512
Ensembl chrNW_004624740:6,877,348...6,886,512 		JBrowse link
G Il10ra interleukin 10 receptor subunit alpha ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chrNW_004624784:13,386,793...13,399,871
Ensembl chrNW_004624784:13,386,965...13,403,014 		JBrowse link
G Itih6 inter-alpha-trypsin inhibitor heavy chain family member 6 ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chrNW_004624910:54,671...70,773 JBrowse link
G Jaml junction adhesion molecule like ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chrNW_004624784:13,601,368...13,625,881 JBrowse link
G Jhy junctional cadherin complex regulator ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chrNW_004624880:2,150,517...2,218,212
Ensembl chrNW_004624880:2,150,314...2,216,660 		JBrowse link
G Kcnd1 potassium voltage-gated channel subfamily D member 1 ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chrNW_004624893:739,980...752,924
Ensembl chrNW_004624893:739,977...751,415 		JBrowse link
G Kcnj1 potassium inwardly rectifying channel subfamily J member 1 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chrNW_004624812:3,160,684...3,192,323
Ensembl chrNW_004624812:3,160,693...3,193,595 		JBrowse link
G Kcnj5 potassium inwardly rectifying channel subfamily J member 5 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chrNW_004624812:3,213,619...3,243,514
Ensembl chrNW_004624812:3,213,774...3,244,012 		JBrowse link
G Kirrel3 kirre like nephrin family adhesion molecule 3 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chrNW_004624812:561,290...1,158,012
Ensembl chrNW_004624812:562,308...1,154,934 		JBrowse link
G Kmt2a lysine methyltransferase 2A ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chrNW_004624784:13,824,507...13,912,672
Ensembl chrNW_004624784:13,824,541...13,908,077 		JBrowse link
G Lama5 laminin subunit alpha 5 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004624741:28,156,956...28,217,133
Ensembl chrNW_004624741:28,157,172...28,217,113 		JBrowse link
G Lemd2 LEM domain nuclear envelope protein 2 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:25741868 PMID:30905398 NCBI chrNW_004624754:23,159,234...23,173,452
Ensembl chrNW_004624754:23,158,985...23,173,885 		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 chrNW_004624885:1,423,563...1,466,657
Ensembl chrNW_004624885:1,447,395...1,467,554 		JBrowse link
G LOC101697622 olfactory receptor 8D4 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chrNW_004624880:1,280,733...1,281,695
Ensembl chrNW_004624880:1,280,736...1,281,671 		JBrowse link
G LOC101698368 olfactory receptor 6M1 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chrNW_004624880:1,312,378...1,313,325
Ensembl chrNW_004624880:1,312,378...1,313,325 		JBrowse link
G LOC101699115 olfactory receptor 6X1 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chrNW_004624880:1,416,355...1,417,332 JBrowse link
G LOC101700923 olfactory receptor 4D5 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chrNW_004624880:1,241,384...1,242,328
Ensembl chrNW_004624880:1,241,384...1,242,328 		JBrowse link
G LOC101701891 histone H2AX ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chrNW_004624784:14,475,813...14,477,269
Ensembl chrNW_004624784:14,476,730...14,477,161 		JBrowse link
G LOC101717337 olfactory receptor 8A1 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chrNW_004624927:566,203...567,135
Ensembl chrNW_004624927:566,206...567,135 		JBrowse link
G LOC101718947 NXPE family member 4 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chrNW_004624784:10,020,202...10,093,600
Ensembl chrNW_004624784:10,020,412...10,033,781 		JBrowse link
G LOC101719875 NXPE family member 2 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chrNW_004624784:10,098,482...10,126,771
Ensembl chrNW_004624784:10,099,681...10,129,244 		JBrowse link
G Lonp1 lon peptidase 1, mitochondrial ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:28492532 NCBI chrNW_004624828:4,494,786...4,516,772
Ensembl chrNW_004624828:4,494,813...4,516,510 		JBrowse link
G Lrp6 LDL receptor related protein 6 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:25741868 NCBI chrNW_004624752:25,605,444...25,756,573
Ensembl chrNW_004624752:25,605,302...25,751,893 		JBrowse link
G Lztr1 leucine zipper like post translational regulator 1 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:24362817 PMID:25335493 PMID:25480913 PMID:25741868 PMID:25795793 More... NCBI chrNW_004624945:691,063...709,599
Ensembl chrNW_004624945:691,059...709,564 		JBrowse link
G Macf1 microtubule actin crosslinking factor 1 ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chrNW_004624764:21,663,516...22,015,866
Ensembl chrNW_004624764:21,782,162...22,014,676 		JBrowse link
G Mapk1 mitogen-activated protein kinase 1 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:25741868 PMID:32721402 NCBI chrNW_004624747:1,296,062...1,389,674
Ensembl chrNW_004624747:1,296,221...1,389,757 		JBrowse link
G Mcam melanoma cell adhesion molecule ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chrNW_004624784:14,671,524...14,681,151
Ensembl chrNW_004624784:14,673,060...14,681,423 		JBrowse link
G Mcph1 microcephalin 1 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:25741868 PMID:26467025 PMID:28492532 PMID:32714618 NCBI chrNW_004624861:4,373,743...4,556,933 JBrowse link
G Med24 mediator complex subunit 24 ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chrNW_004624795:3,140,340...3,161,930
Ensembl chrNW_004624795:3,140,216...3,162,054 		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 chrNW_004624818:1,041,371...1,065,061
Ensembl chrNW_004624818:1,041,369...1,065,023 		JBrowse link
G Mfrp membrane frizzled-related protein ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chrNW_004624784:14,709,834...14,714,927
Ensembl chrNW_004624784:14,710,042...14,714,715 		JBrowse link
G Mgp matrix Gla protein ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:25741868 PMID:28492532 PMID:37923733 NCBI chrNW_004624752:23,146,025...23,149,266
Ensembl chrNW_004624752:23,146,166...23,149,048 		JBrowse link
G Mpzl2 myelin protein zero like 2 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chrNW_004624784:13,672,672...13,684,612 JBrowse link
G Mpzl3 myelin protein zero like 3 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chrNW_004624784:13,651,217...13,670,413
Ensembl chrNW_004624784:13,650,650...13,670,372 		JBrowse link
G Msantd2 Myb/SANT DNA binding domain containing 2 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chrNW_004624927:784,325...816,691
Ensembl chrNW_004624927:783,482...817,427 		JBrowse link
G Mta3 metastasis associated 1 family member 3 ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chrNW_004624738:24,247,752...24,403,234 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 chrNW_004624781:7,494,958...7,510,527
Ensembl chrNW_004624781:7,494,892...7,514,604 		JBrowse link
G Mxra5 matrix remodeling associated 5 ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chrNW_004624834:1,502,487...1,535,177
Ensembl chrNW_004624834:1,502,409...1,535,098 		JBrowse link
G Myh7b myosin heavy chain 7B ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chrNW_004624842:4,395,859...4,442,557
Ensembl chrNW_004624842:4,395,859...4,433,985 		JBrowse link
G Myh8 myosin heavy chain 8 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:25741868 NCBI chrNW_004624786:12,756,731...12,786,312
Ensembl chrNW_004624786:12,756,852...12,785,997 		JBrowse link
G N4bp2l2 NEDD4 binding protein 2 like 2 ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chrNW_004624776:5,295,054...5,467,454 JBrowse link
G Nectin1 nectin cell adhesion molecule 1 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chrNW_004624784:14,997,533...15,058,971
Ensembl chrNW_004624784:14,997,424...15,059,761 		JBrowse link
G Nfrkb nuclear factor related to kappaB binding protein ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chrNW_004624812:4,248,077...4,282,948
Ensembl chrNW_004624812:4,249,350...4,280,182 		JBrowse link
G Nherf4 NHERF family PDZ scaffold protein 4 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chrNW_004624784:14,564,134...14,568,587
Ensembl chrNW_004624784:14,564,060...14,570,025 		JBrowse link
G Nlrx1 NLR family member X1 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chrNW_004624784:14,549,926...14,564,028
Ensembl chrNW_004624784:14,549,834...14,563,398 		JBrowse link
G Npr2 natriuretic peptide receptor 2 ISO ClinVar Annotator: match by term: Disproportionate short stature | ClinVar Annotator: match by term: Short stature ClinVar PMID:25741868 PMID:35741827 NCBI chrNW_004624868:4,974,690...4,993,886
Ensembl chrNW_004624868:4,974,810...4,993,817 		JBrowse link
G Nrgn neurogranin ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chrNW_004624927:753,967...762,663
Ensembl chrNW_004624927:753,956...762,662 		JBrowse link
G Nrxn3 neurexin 3 ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chrNW_004624734:22,161,837...23,757,367
Ensembl chrNW_004624734:22,163,166...23,692,660 		JBrowse link
G Nuf2 NUF2 component of NDC80 kinetochore complex ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:25741868 PMID:33721060 NCBI chrNW_004624826:1,794,084...1,831,009
Ensembl chrNW_004624826:1,798,737...1,831,112 		JBrowse link
G Oaf out at first homolog ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chrNW_004624784:15,571,765...15,587,589
Ensembl chrNW_004624784:15,571,402...15,589,246 		JBrowse link
G Obscn obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chrNW_004624937:926,090...1,060,233 JBrowse link
G Obsl1 obscurin like cytoskeletal adaptor 1 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:19481195 PMID:25741868 NCBI chrNW_004624823:5,491,644...5,518,222
Ensembl chrNW_004624823:5,491,779...5,511,202 		JBrowse link
G Orc1 origin recognition complex subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21358633 NCBI chrNW_004624859:833,360...863,631
Ensembl chrNW_004624859:833,793...863,539 		JBrowse link
G Osbp oxysterol binding protein ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chrNW_004624864:1,176,619...1,199,905
Ensembl chrNW_004624864:1,176,173...1,198,217 		JBrowse link
G Pafah1b2 platelet activating factor acetylhydrolase 1b catalytic subunit 2 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chrNW_004624784:12,583,430...12,619,816 JBrowse link
G Panx3 pannexin 3 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chrNW_004624927:612,686...621,282
Ensembl chrNW_004624927:612,750...620,564 		JBrowse link
G Pcsk1 proprotein convertase subtilisin/kexin type 1 ISO RGD PMID:12145326 RGD:737721 NCBI chrNW_004624743:14,993,436...15,036,512
Ensembl chrNW_004624743:14,994,172...15,036,412 		JBrowse link
G Pcsk7 proprotein convertase subtilisin/kexin type 7 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chrNW_004624784:12,659,627...12,685,474
Ensembl chrNW_004624784:12,660,572...12,682,553 		JBrowse link
G Pdzrn3 PDZ domain containing ring finger 3 ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chrNW_004624773:7,901,560...8,144,455
Ensembl chrNW_004624773:7,900,934...8,144,003 		JBrowse link
G Phf20 PHD finger protein 20 ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chrNW_004624842:3,520,994...3,669,584 JBrowse link
G Phldb1 pleckstrin homology like domain family B member 1 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chrNW_004624784:14,016,774...14,064,069
Ensembl chrNW_004624784:14,016,587...14,065,905 		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 chrNW_004624766:8,698,836...8,834,928
Ensembl chrNW_004624766:8,701,642...8,776,578 		JBrowse link
G Pknox2 PBX/knotted 1 homeobox 2 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chrNW_004624927:1,197,610...1,459,777
Ensembl chrNW_004624927:1,275,956...1,460,170 		JBrowse link
G Plk4 polo like kinase 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25344692 NCBI chrNW_004624777:8,804,372...8,825,669
Ensembl chrNW_004624777:8,804,593...8,825,257 		JBrowse link
G Plxna3 plexin A3 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:25741868 NCBI chrNW_004624946:924,956...939,483
Ensembl chrNW_004624946:926,521...939,483 		JBrowse link
G Pogz pogo transposable element derived with ZNF domain ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chrNW_004624772:19,127,702...19,184,151
Ensembl chrNW_004624772:19,127,702...19,184,048 		JBrowse link
G Polr2e RNA polymerase II, I and III subunit E ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chrNW_004624828:7,547,401...7,553,282
Ensembl chrNW_004624828:7,547,460...7,553,282 		JBrowse link
G Polr3gl RNA polymerase III subunit GL ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:25741868 PMID:31089205 NCBI chrNW_004624772:17,320,090...17,328,492
Ensembl chrNW_004624772:17,281,782...17,328,628 		JBrowse link
G Pou2f3 POU class 2 homeobox 3 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chrNW_004624784:15,597,097...15,675,975
Ensembl chrNW_004624784:15,597,240...15,674,996 		JBrowse link
G Prdm10 PR/SET domain 10 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chrNW_004624812:4,283,179...4,389,520
Ensembl chrNW_004624812:4,287,749...4,390,020 		JBrowse link
G Prkg2 protein kinase cGMP-dependent 2 ISO DNA:deletion:cds (rat) RGD PMID:15466490 PMID:19149413 RGD:150429792 RGD:150429793 NCBI chrNW_004624757:9,799,777...9,904,825
Ensembl chrNW_004624757:9,798,808...9,906,517 		JBrowse link
G Prmt7 protein arginine methyltransferase 7 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:25741868 PMID:26437029 PMID:27718516 PMID:28492532 PMID:28902392 NCBI chrNW_004624746:17,949,443...18,017,344
Ensembl chrNW_004624746:17,948,085...18,001,259 		JBrowse link
G Psmg2 proteasome assembly chaperone 2 ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chrNW_004624770:19,787,876...19,802,623
Ensembl chrNW_004624770:19,788,057...19,802,422 		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:12717436 More... NCBI chrNW_004624747:19,721,581...19,813,639
Ensembl chrNW_004624747:19,721,468...19,813,670 		JBrowse link
G Ptpru protein tyrosine phosphatase receptor type U ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chrNW_004624764:12,994,562...13,072,723
Ensembl chrNW_004624764:12,994,521...13,073,251 		JBrowse link
G Pus3 pseudouridine synthase 3 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chrNW_004624812:41,234...52,962
Ensembl chrNW_004624812:41,652...52,973 		JBrowse link
G Pygb glycogen phosphorylase B ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chrNW_004624939:273,448...302,604
Ensembl chrNW_004624939:270,652...302,608 		JBrowse link
G Rasa3 RAS p21 protein activator 3 ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chrNW_004624793:209,616...336,304
Ensembl chrNW_004624793:257,661...334,981 		JBrowse link
G Recql RecQ like helicase ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:25741868 PMID:35025765 NCBI chrNW_004624752:17,183,624...17,220,954
Ensembl chrNW_004624752:17,185,129...17,220,707 		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 chrNW_004624922:382,462...413,227
Ensembl chrNW_004624922:382,399...413,281 		JBrowse link
G Rit1 Ras like without CAAX 1 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:24033266 PMID:25741868 PMID:26518681 PMID:27101134 PMID:28492532 More... NCBI chrNW_004624885:1,275,765...1,284,613 JBrowse link
G Rnf214 ring finger protein 214 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chrNW_004624784:12,685,551...12,723,125
Ensembl chrNW_004624784:12,687,262...12,723,119 		JBrowse link
G Rnf26 ring finger protein 26 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chrNW_004624784:14,703,369...14,706,194 JBrowse link
G Rnf31 ring finger protein 31 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:28492532 NCBI chrNW_004624820:8,376,530...8,388,596
Ensembl chrNW_004624820:8,375,871...8,388,569 		JBrowse link
G Robo1 roundabout guidance receptor 1 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:25410734 NCBI chrNW_004624874:4,234,640...5,359,333
Ensembl chrNW_004624874:4,949,538...5,357,690 		JBrowse link
G Robo3 roundabout guidance receptor 3 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chrNW_004624927:872,197...887,316
Ensembl chrNW_004624927:872,197...887,079 		JBrowse link
G Robo4 roundabout guidance receptor 4 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chrNW_004624927:888,421...903,657
Ensembl chrNW_004624927:888,141...903,659 		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 PMID:33937263 NCBI chrNW_004624868:479,303...732,723
Ensembl chrNW_004624868:479,290...731,650 		JBrowse link
G Ros1 ROS proto-oncogene 1, receptor tyrosine kinase ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chrNW_004624798:12,339,446...12,449,316 JBrowse link
G Rps25 ribosomal protein S25 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chrNW_004624784:14,407,088...14,410,302 JBrowse link
G Rpusd4 RNA pseudouridine synthase D4 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chrNW_004624812:311,912...366,427
Ensembl chrNW_004624812:359,184...366,872 		JBrowse link
G Runx1t1 RUNX1 partner transcriptional co-repressor 1 ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chrNW_004624744:783...63,720 JBrowse link
G Ryr1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:19191333 PMID:25741868 PMID:28492532 PMID:32403337 PMID:33333461 More... NCBI chrNW_004624794:11,888,211...12,004,457
Ensembl chrNW_004624794:11,888,289...12,004,314 		JBrowse link
G Sbds SBDS ribosome maturation factor ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:12496757 PMID:14749921 PMID:15284109 PMID:15769891 PMID:15860664 More... NCBI chrNW_004624740:8,734,547...8,740,634
Ensembl chrNW_004624740:8,734,546...8,740,652 		JBrowse link
G Sc5d sterol-C5-desaturase ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chrNW_004624880:3,874,337...3,896,721 JBrowse link
G Scn2b sodium voltage-gated channel beta subunit 2 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chrNW_004624784:13,580,427...13,593,055
Ensembl chrNW_004624784:13,580,313...13,593,169 		JBrowse link
G Scn3b sodium voltage-gated channel beta subunit 3 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chrNW_004624880:1,496,571...1,519,728
Ensembl chrNW_004624880:1,496,634...1,516,684 		JBrowse link
G Scn4b sodium voltage-gated channel beta subunit 4 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chrNW_004624784:13,550,950...13,569,937
Ensembl chrNW_004624784:13,549,815...13,570,026 		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 chrNW_004624754:22,164,319...22,196,569
Ensembl chrNW_004624754:22,166,578...22,196,540 		JBrowse link
G Siae sialic acid acetylesterase ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chrNW_004624927:636,134...678,367
Ensembl chrNW_004624927:637,175...678,780 		JBrowse link
G Sidt2 SID1 transmembrane family member 2 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chrNW_004624784:12,635,078...12,651,713 JBrowse link
G Sik3 SIK family kinase 3 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chrNW_004624784:12,259,476...12,547,650
Ensembl chrNW_004624784:12,260,564...12,547,764 		JBrowse link
G Sin3a SIN3 transcription regulator family member A ISO CTD Direct Evidence: marker/mechanism CTD PMID:27399968 NCBI chrNW_004624894:300,027...388,397
Ensembl chrNW_004624894:301,082...362,683 		JBrowse link
G Slc37a2 solute carrier family 37 member 2 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chrNW_004624927:1,106,050...1,132,050
Ensembl chrNW_004624927:1,106,367...1,131,730 		JBrowse link
G Slc37a4 solute carrier family 37 member 4 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chrNW_004624784:14,415,385...14,421,953
Ensembl chrNW_004624784:14,415,395...14,421,944 		JBrowse link
G Slc38a3 solute carrier family 38 member 3 ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chrNW_004624730:4,078,084...4,092,330
Ensembl chrNW_004624730:4,078,014...4,096,080 		JBrowse link
G Slc7a8 solute carrier family 7 member 8 ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chrNW_004624820:9,365,167...9,418,346
Ensembl chrNW_004624820:9,365,093...9,419,045 		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 chrNW_004624848:3,569,744...3,611,104 JBrowse link
G Smarcal1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:11799392 PMID:15880370 PMID:16840568 PMID:17089404 PMID:18805831 More... NCBI chrNW_004624823:8,645,340...8,708,039
Ensembl chrNW_004624823:8,644,826...8,706,591 		JBrowse link
G Snx19 sorting nexin 19 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chrNW_004624812:5,328,091...5,381,537
Ensembl chrNW_004624812:5,329,460...5,381,593 		JBrowse link
G Sorl1 sortilin related receptor 1 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chrNW_004624880:3,579,783...3,749,958
Ensembl chrNW_004624880:3,583,838...3,749,930 		JBrowse link
G Sos1 SOS Ras/Rac guanine nucleotide exchange factor 1 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:17143285 PMID:17586837 PMID:20186801 PMID:21387466 PMID:22494877 More... NCBI chrNW_004624738:20,466,120...20,591,966
Ensembl chrNW_004624738:20,466,117...20,591,910 		JBrowse link
G Sox3 SRY-box transcription factor 3 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:23757202 PMID:25741868 PMID:28492532 NCBI chrNW_004624808:6,167,512...6,169,603
Ensembl chrNW_004624808:6,167,512...6,168,891 		JBrowse link
G Spa17 sperm autoantigenic protein 17 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chrNW_004624927:678,390...691,963
Ensembl chrNW_004624927:678,260...691,797 		JBrowse link
G Srpra SRP receptor subunit alpha ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chrNW_004624812:416,727...422,820
Ensembl chrNW_004624812:416,727...422,823 		JBrowse link
G Srpx sushi repeat containing protein X-linked ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chrNW_004624762:17,240,899...17,347,430
Ensembl chrNW_004624762:17,240,816...17,347,523 		JBrowse link
G St14 ST14 transmembrane serine protease matriptase ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chrNW_004624812:4,584,043...4,620,410
Ensembl chrNW_004624812:4,583,946...4,620,547 		JBrowse link
G St3gal4 ST3 beta-galactoside alpha-2,3-sialyltransferase 4 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chrNW_004624812:503,703...551,907
Ensembl chrNW_004624812:509,841...553,894 		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 chrNW_004624854:5,067,578...5,106,052
Ensembl chrNW_004624854:5,067,535...5,102,106 		JBrowse link
G Stt3a STT3 oligosaccharyltransferase complex catalytic subunit A ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chrNW_004624927:1,577,504...1,608,328
Ensembl chrNW_004624927:1,577,534...1,606,596 		JBrowse link
G Sytl5 synaptotagmin like 5 ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chrNW_004624762:17,401,304...17,659,757
Ensembl chrNW_004624762:17,400,875...17,547,947 		JBrowse link
G Tagln transgelin ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chrNW_004624784:12,653,591...12,659,373
Ensembl chrNW_004624784:12,647,071...12,663,863 		JBrowse link
G Tapt1 transmembrane anterior posterior transformation 1 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:25741868 NCBI chrNW_004624755:15,639,200...15,698,828
Ensembl chrNW_004624755:15,639,136...15,699,006 		JBrowse link
G Tbce tubulin folding cofactor E ISO Kenny-Caffey syndrome , OMIM:244460 RGD PMID:12389028 RGD:1599303 NCBI chrNW_004624775:15,067,044...15,132,690
Ensembl chrNW_004624775:15,067,044...15,133,008 		JBrowse link
G Tbcel tubulin folding cofactor E like ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chrNW_004624880:4,135,653...4,213,968
Ensembl chrNW_004624880:4,136,804...4,213,713 		JBrowse link
G Tbrg1 transforming growth factor beta regulator 1 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chrNW_004624927:622,865...632,243
Ensembl chrNW_004624927:623,175...632,243 		JBrowse link
G Tecta tectorin alpha ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chrNW_004624880:4,040,402...4,122,377
Ensembl chrNW_004624880:4,041,020...4,122,377 		JBrowse link
G Tg thyroglobulin treatment ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:10760744 PMID:16365524 PMID:24582622 RGD:13605608 RGD:150429798 NCBI chrNW_004624735:22,864,373...23,083,457
Ensembl chrNW_004624735:22,862,443...23,083,475 		JBrowse link
G Thy1 Thy-1 cell surface antigen ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chrNW_004624784:14,779,533...14,784,315
Ensembl chrNW_004624784:14,780,698...14,784,897 		JBrowse link
G Tirap TIR domain containing adaptor protein ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chrNW_004624812:433,540...445,517
Ensembl chrNW_004624812:439,319...446,646 		JBrowse link
G Tlcd5 TLC domain containing 5 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chrNW_004624784:15,682,422...15,688,976
Ensembl chrNW_004624784:15,684,202...15,690,188 		JBrowse link
G Tmem218 transmembrane protein 218 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chrNW_004624927:1,137,223...1,163,880
Ensembl chrNW_004624927:1,136,636...1,163,757 		JBrowse link
G Tmem225 transmembrane protein 225 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chrNW_004624880:1,287,126...1,295,505 JBrowse link
G Tmem25 transmembrane protein 25 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chrNW_004624784:13,931,637...13,936,664
Ensembl chrNW_004624784:13,931,618...13,936,664 		JBrowse link
G Tmem45b transmembrane protein 45B ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chrNW_004624812:4,212,349...4,247,107
Ensembl chrNW_004624812:4,212,595...4,247,107 		JBrowse link
G Tmprss4 transmembrane serine protease 4 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chrNW_004624784:13,495,196...13,531,670
Ensembl chrNW_004624784:13,495,297...13,539,275 		JBrowse link
G Tp53 tumor protein p53 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:1631137 PMID:1978757 PMID:8062826 PMID:8099841 PMID:8425176 More... NCBI chrNW_004624786:10,266,316...10,282,664
Ensembl chrNW_004624786:10,263,518...10,271,218 		JBrowse link
G Tpo thyroid peroxidase ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:25741868 NCBI chrNW_004624846:1,934,084...1,962,637
Ensembl chrNW_004624846:1,934,469...1,961,291 		JBrowse link
G Traip TRAF interacting protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:26595769 NCBI chrNW_004624730:3,749,183...3,775,062
Ensembl chrNW_004624730:3,748,894...3,774,489 		JBrowse link
G Trappc11 trafficking protein particle complex subunit 11 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:28492532 NCBI chrNW_004624769:14,388,116...14,453,966
Ensembl chrNW_004624769:14,388,035...14,455,171 		JBrowse link
G Trappc4 trafficking protein particle complex subunit 4 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chrNW_004624784:14,410,429...14,414,531
Ensembl chrNW_004624784:14,410,251...14,414,531 		JBrowse link
G Treh trehalase ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chrNW_004624784:14,064,161...14,083,871
Ensembl chrNW_004624784:14,064,522...14,084,051 		JBrowse link
G Trim29 tripartite motif containing 29 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chrNW_004624784:15,468,024...15,493,172
Ensembl chrNW_004624784:15,469,066...15,493,099 		JBrowse link
G Trim37 tripartite motif containing 37 ISO Mulibrey Nanism, OMIM:253250 RGD PMID:10888877 RGD:1599667 NCBI chrNW_004624871:899,931...1,049,583
Ensembl chrNW_004624871:912,140...1,021,354 		JBrowse link
G Tshr thyroid stimulating hormone receptor ISO RGD PMID:29507327 RGD:150521601 NCBI chrNW_004624734:20,880,438...21,050,756
Ensembl chrNW_004624734:20,882,154...21,050,626 		JBrowse link
G Tstd3 thiosulfate sulfurtransferase like domain containing 3 ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chrNW_004624810:5,487,669...5,498,787 JBrowse link
G Ttc36 tetratricopeptide repeat domain 36 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chrNW_004624784:13,913,218...13,931,581
Ensembl chrNW_004624784:13,913,225...13,931,581 		JBrowse link
G Ttn titin ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:23861362 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chrNW_004624844:484,593...760,155 JBrowse link
G Ubash3b ubiquitin associated and SH3 domain containing B ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chrNW_004624880:2,269,247...2,427,531
Ensembl chrNW_004624880:2,270,679...2,427,298 		JBrowse link
G Ube4a ubiquitination factor E4A ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chrNW_004624784:13,754,234...13,792,616 JBrowse link
G Ubr4 ubiquitin protein ligase E3 component n-recognin 4 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:25741868 NCBI chrNW_004624764:4,223,784...4,358,923
Ensembl chrNW_004624764:4,223,784...4,358,885 		JBrowse link
G Upk2 uroplakin 2 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chrNW_004624784:14,355,196...14,358,721
Ensembl chrNW_004624784:14,355,202...14,358,782 		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 chrNW_004624835:48,213...758,640
Ensembl chrNW_004624835:49,877...758,640 		JBrowse link
G Usp2 ubiquitin specific peptidase 2 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chrNW_004624784:14,729,762...14,755,982
Ensembl chrNW_004624784:14,729,770...14,754,991 		JBrowse link
G Usp24 ubiquitin specific peptidase 24 ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chrNW_004624862:4,729,262...4,877,788
Ensembl chrNW_004624862:4,729,302...4,877,788 		JBrowse link
G Usp45 ubiquitin specific peptidase 45 ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chrNW_004624810:5,508,912...5,574,233
Ensembl chrNW_004624810:5,508,882...5,574,395 		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:11353416 RGD:13217415 NCBI chrNW_004624816:4,314,146...4,423,946
Ensembl chrNW_004624816:4,365,961...4,424,514 		JBrowse link
G Vps11 VPS11 core subunit of CORVET and HOPS complexes ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chrNW_004624784:14,452,811...14,464,965
Ensembl chrNW_004624784:14,452,817...14,464,965 		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 chrNW_004624763:6,101,943...6,866,457
Ensembl chrNW_004624763:6,102,674...6,864,817 		JBrowse link
G Vsig2 V-set and immunoglobulin domain containing 2 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chrNW_004624927:762,912...768,914
Ensembl chrNW_004624927:762,967...768,066 		JBrowse link
G Vwa5a von Willebrand factor A domain containing 5A ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chrNW_004624880:876,339...912,628
Ensembl chrNW_004624880:882,901...912,620 		JBrowse link
G Vwce von Willebrand factor C and EGF domains ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chrNW_004624926:894,001...911,510
Ensembl chrNW_004624926:897,139...908,514 		JBrowse link
G Wdr6 WD repeat domain 6 ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chrNW_004624730:3,058,947...3,063,709
Ensembl chrNW_004624730:3,055,610...3,063,153 		JBrowse link
G Wdr62 WD repeat domain 62 ISO RGD PMID:24875059 RGD:11541053 NCBI chrNW_004624794:10,309,855...10,358,018
Ensembl chrNW_004624794:10,310,129...10,348,686 		JBrowse link
G Wnt4 Wnt family member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17505543 NCBI chrNW_004624764:6,913,027...6,934,650
Ensembl chrNW_004624764:6,921,811...6,933,392 		JBrowse link
G Wnt5a Wnt family member 5A ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:25741868 NCBI chrNW_004624822:1,824,378...1,843,599
Ensembl chrNW_004624822:1,825,238...1,841,288 		JBrowse link
G Wwox WW domain containing oxidoreductase ISO DNA:deletion:cds:exon 9, 13bp nucleotides 1190-1202
compared to wild type and heterozygotes		 RGD PMID:17803050 PMID:18676360 PMID:19500159 RGD:150429974 RGD:150429978 RGD:150429979 NCBI chrNW_004624746:7,983,863...8,924,312
Ensembl chrNW_004624746:7,984,671...8,924,136 		JBrowse link
G Xdh xanthine dehydrogenase ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:25741868 PMID:28492532 PMID:30755392 NCBI chrNW_004624738:13,116,317...13,180,935
Ensembl chrNW_004624738:13,115,982...13,181,352 		JBrowse link
G Zbed4 zinc finger BED-type containing 4 ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chrNW_004624752:763,148...785,330
Ensembl chrNW_004624752:764,368...767,868 		JBrowse link
G Zbtb44 zinc finger and BTB domain containing 44 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chrNW_004624812:4,631,468...4,694,218 JBrowse link
G Zfc3h1 zinc finger C3H1-type containing ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chrNW_004624750:26,098,407...26,153,955
Ensembl chrNW_004624750:26,098,661...26,156,611 		JBrowse link
G Zfhx3 zinc finger homeobox 3 ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chrNW_004624746:15,094,890...15,330,653
Ensembl chrNW_004624746:15,098,960...15,254,127 		JBrowse link
G Znf202 zinc finger protein 202 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chrNW_004624880:1,428,279...1,447,071
Ensembl chrNW_004624880:1,439,431...1,447,092 		JBrowse link
G Znf446 zinc finger protein 446 ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chrNW_004624832:97,276...105,169
Ensembl chrNW_004624832:98,176...100,840 		JBrowse link
G Znf449 zinc finger protein 449 ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chrNW_004624973:223,140...239,894
Ensembl chrNW_004624973:225,378...240,121 		JBrowse link
G Zpr1 ZPR1 zinc finger ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chrNW_004624784:12,202,519...12,212,257
Ensembl chrNW_004624784:12,202,519...12,213,120 		JBrowse link
3-M syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cul7 cullin 7 ISO ClinVar Annotator: match by term: 3-M syndrome | ClinVar Annotator: match by term: Yakut short stature syndrome ClinVar PMID:16142236 PMID:17675530 PMID:19225462 PMID:21396581 PMID:21548126 More... NCBI chrNW_004624754:16,454,304...16,472,721
Ensembl chrNW_004624754:16,459,134...16,472,675 		JBrowse link
G Obsl1 obscurin like cytoskeletal adaptor 1 ISO ClinVar Annotator: match by term: 3-M syndrome ClinVar NCBI chrNW_004624823:5,491,644...5,518,222
Ensembl chrNW_004624823:5,491,779...5,511,202 		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 ClinVar Annotator: match by term: Aarskog syndrome ClinVar PMID:4146757 PMID:7954831 PMID:10930571 PMID:11093277 PMID:11940089 More... NCBI chrNW_004624909:2,316,749...2,370,097
Ensembl chrNW_004624909:2,316,431...2,370,179 		JBrowse link
G Tsr2 TSR2 ribosome maturation factor ISO ClinVar Annotator: match by term: Aarskog syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004624909:2,311,494...2,316,358
Ensembl chrNW_004624909:2,310,718...2,315,538 		JBrowse link
achondrogenesis type IA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Asb2 ankyrin repeat and SOCS box containing 2 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chrNW_004624734:10,317,932...10,352,300
Ensembl chrNW_004624734:10,316,299...10,352,515 		JBrowse link
G Atxn3 ataxin 3 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chrNW_004624734:8,685,994...8,726,329 JBrowse link
G Btbd7 BTB domain containing 7 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chrNW_004624734:9,659,249...9,768,359
Ensembl chrNW_004624734:9,665,086...9,714,685 		JBrowse link
G Calm1 calmodulin 1 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chrNW_004624734:12,030,264...12,041,682
Ensembl chrNW_004624734:12,030,001...12,041,772 		JBrowse link
G Catsperb cation channel sperm associated auxiliary subunit beta ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chrNW_004624734:10,973,392...11,124,351 JBrowse link
G Ccdc88c coiled-coil domain containing 88C ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chrNW_004624734:11,215,274...11,336,535
Ensembl chrNW_004624734:11,215,357...11,336,413 		JBrowse link
G Chga chromogranin A ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chrNW_004624734:9,405,121...9,416,774
Ensembl chrNW_004624734:9,404,916...9,416,902 		JBrowse link
G Cpsf2 cleavage and polyadenylation specific factor 2 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chrNW_004624734:8,737,023...8,769,088
Ensembl chrNW_004624734:8,736,911...8,768,583 		JBrowse link
G Ddx24 DEAD-box helicase 24 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chrNW_004624734:10,405,656...10,422,101 JBrowse link
G Dglucy D-glutamate cyclase ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chrNW_004624734:11,374,116...11,423,840
Ensembl chrNW_004624734:11,375,180...11,422,068 		JBrowse link
G Fam181a family with sequence similarity 181 member A ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chrNW_004624734:10,304,641...10,314,251
Ensembl chrNW_004624734:10,309,678...10,316,075 		JBrowse link
G Fbln5 fibulin 5 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chrNW_004624734:10,768,920...10,840,740
Ensembl chrNW_004624734:10,768,751...10,843,654 		JBrowse link
G Golga5 golgin A5 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chrNW_004624734:9,288,953...9,339,573
Ensembl chrNW_004624734:9,292,714...9,340,905 		JBrowse link
G Gon7 GON7 subunit of KEOPS complex ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chrNW_004624734:9,628,487...9,630,821
Ensembl chrNW_004624734:9,628,653...9,630,757 		JBrowse link
G Gpr68 G protein-coupled receptor 68 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chrNW_004624734:11,338,233...11,370,239
Ensembl chrNW_004624734:11,360,053...11,368,757 		JBrowse link
G Itpk1 inositol-tetrakisphosphate 1-kinase ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chrNW_004624734:9,420,232...9,568,655
Ensembl chrNW_004624734:9,417,939...9,568,702 		JBrowse link
G Kcnk13 potassium two pore domain channel subfamily K member 13 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chrNW_004624734:12,206,237...12,319,321
Ensembl chrNW_004624734:12,207,094...12,317,720 		JBrowse link
G Lgmn legumain ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chrNW_004624734:9,207,496...9,240,026
Ensembl chrNW_004624734:9,204,790...9,240,309 		JBrowse link
G Lyset lysosomal enzyme trafficking factor ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chrNW_004624734:9,616,155...9,618,108
Ensembl chrNW_004624734:9,616,159...9,618,644 		JBrowse link
G Ndufb1 NADH:ubiquinone oxidoreductase subunit B1 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chrNW_004624734:8,730,532...8,737,084 JBrowse link
G Nrde2 NRDE-2, necessary for RNA interference, domain containing ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chrNW_004624734:12,098,386...12,151,635
Ensembl chrNW_004624734:12,098,361...12,148,760 		JBrowse link
G Otub2 OTU deubiquitinase, ubiquitin aldehyde binding 2 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chrNW_004624734:10,384,877...10,404,333
Ensembl chrNW_004624734:10,384,777...10,404,716 		JBrowse link
G Ppp4r3a protein phosphatase 4 regulatory subunit 3A ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chrNW_004624734:11,160,253...11,197,264
Ensembl chrNW_004624734:11,160,356...11,197,817 		JBrowse link
G Ppp4r4 protein phosphatase 4 regulatory subunit 4 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chrNW_004624734:10,522,300...10,623,887
Ensembl chrNW_004624734:10,522,298...10,620,543 		JBrowse link
G Prima1 proline rich membrane anchor 1 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chrNW_004624734:10,167,407...10,223,052
Ensembl chrNW_004624734:10,167,449...10,222,792 		JBrowse link
G Psmc1 proteasome 26S subunit, ATPase 1 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chrNW_004624734:12,153,919...12,174,650 JBrowse link
G Rin3 Ras and Rab interactor 3 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chrNW_004624734:9,080,109...9,197,536
Ensembl chrNW_004624734:9,080,152...9,199,412 		JBrowse link
G Rps6ka5 ribosomal protein S6 kinase A5 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chrNW_004624734:11,499,372...11,660,564
Ensembl chrNW_004624734:11,499,637...11,659,536 		JBrowse link
G Serpina10 serpin family A member 10 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chrNW_004624734:10,619,044...10,630,963
Ensembl chrNW_004624734:10,620,620...10,631,306 		JBrowse link
G Serpina6 serpin family A member 6 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chrNW_004624734:10,638,031...10,650,297
Ensembl chrNW_004624734:10,637,515...10,651,033 		JBrowse link
G Slc24a4 solute carrier family 24 member 4 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chrNW_004624734:8,911,376...9,069,054
Ensembl chrNW_004624734:8,911,455...9,063,063 		JBrowse link
G Tc2n tandem C2 domains, nuclear ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chrNW_004624734:10,877,974...10,912,859
Ensembl chrNW_004624734:10,889,439...10,912,189 		JBrowse link
G Tdp1 tyrosyl-DNA phosphodiesterase 1 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chrNW_004624734:12,319,499...12,414,815
Ensembl chrNW_004624734:12,331,710...12,414,784 		JBrowse link
G Trip11 thyroid hormone receptor interactor 11 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA OMIM
ClinVar		 PMID:200899 PMID:2008997 PMID:9536098 PMID:16199547 PMID:17576681 More... NCBI chrNW_004624734:8,604,565...8,682,597
Ensembl chrNW_004624734:8,608,325...8,682,299 		JBrowse link
G Ttc7b tetratricopeptide repeat domain 7B ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chrNW_004624734:11,698,514...11,935,122
Ensembl chrNW_004624734:11,698,512...11,935,245 		JBrowse link
G Ubr7 ubiquitin protein ligase E3 component n-recognin 7 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chrNW_004624734:9,630,810...9,651,395
Ensembl chrNW_004624734:9,630,964...9,652,428 		JBrowse link
G Unc79 unc-79 homolog, NALCN channel complex subunit ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chrNW_004624734:9,870,391...10,163,977
Ensembl chrNW_004624734:9,870,675...10,156,960 		JBrowse link
achondrogenesis type IB term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc26a2 solute carrier family 26 member 2 ISO ClinVar Annotator: match by term: Achondrogenesis Fraccaro type | ClinVar Annotator: match by term: Achondrogenesis, type IB OMIM
ClinVar		 PMID:4644462 PMID:7695699 PMID:7923357 PMID:8218237 PMID:8528239 More... NCBI chrNW_004624774:9,258,057...9,273,722
Ensembl chrNW_004624774:9,257,682...9,269,753 		JBrowse link
achondrogenesis type II term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col2a1 collagen type II alpha 1 chain ISO ClinVar Annotator: match by term: Achondrogenesis type II | ClinVar Annotator: match by term: Chondrogenesis imperfecta OMIM
ClinVar		 PMID:7695699 PMID:7752132 PMID:7757081 PMID:7829510 PMID:7977371 More... NCBI chrNW_004624816:4,273,969...4,304,519
Ensembl chrNW_004624816:4,274,219...4,304,513 		JBrowse link
achondroplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acan aggrecan ISO OMIM:100800 MouseDO NCBI chrNW_004624768:16,093,552...16,156,655 JBrowse link
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: Achondroplasia ClinVar PMID:16571647 PMID:16905551 PMID:17701892 PMID:19349279 PMID:25741868 More... NCBI chrNW_004624731:11,086,240...11,318,111
Ensembl chrNW_004624731:11,086,844...11,318,102 		JBrowse link
G Fgfr3 fibroblast growth factor receptor 3 severity ISO ClinVar Annotator: match by term: Achondroplasia | ClinVar Annotator: match by term: Skeleton skin brain syndrome
DNA:mutation:cds:p.K650M(human)		 OMIM
ClinVar
RGD		 PMID:1908846 PMID:4697848 PMID:7647778 PMID:7649548 PMID:7670477 More... RGD:11568054 NCBI chrNW_004624755:25,633,690...25,647,361
Ensembl chrNW_004624755:25,635,165...25,646,932 		JBrowse link
G Nppc natriuretic peptide C ISO OMIM:100800 MouseDO NCBI chrNW_004624843:4,869,278...4,873,444
Ensembl chrNW_004624843:4,869,614...4,873,448 		JBrowse link
G Npr2 natriuretic peptide receptor 2 ISO DNA:missense mutation:cds:p.L885R (mouse)
OMIM:100800		 RGD
MouseDO		 PMID:15722353 RGD:1580771 NCBI chrNW_004624868:4,974,690...4,993,886
Ensembl chrNW_004624868:4,974,810...4,993,817 		JBrowse link
G Pthlh parathyroid hormone like hormone ISO OMIM:100800 MouseDO NCBI chrNW_004624778:8,007,358...8,019,538
Ensembl chrNW_004624778:8,008,056...8,019,612 		JBrowse link
G Spred2 sprouty related EVH1 domain containing 2 ISO OMIM:100800 MouseDO NCBI chrNW_004624762:8,109,159...8,240,543
Ensembl chrNW_004624762:8,109,157...8,240,543 		JBrowse link
Achondroplastic Dwarfism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgfr3 fibroblast growth factor receptor 3 ISO ClinVar Annotator: match by term: Achondroplastic dwarfism ClinVar PMID:1908846 PMID:4697848 PMID:7647778 PMID:7649548 PMID:7670477 More... NCBI chrNW_004624755:25,633,690...25,647,361
Ensembl chrNW_004624755:25,635,165...25,646,932 		JBrowse link
acromesomelic dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gdf5 growth differentiation factor 5 ISO ClinVar Annotator: match by term: Acromesomelic dwarfism | ClinVar Annotator: match by term: Acromesomelic dysplasia ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004624842:3,958,814...3,963,713
Ensembl chrNW_004624842:3,959,617...3,963,020 		JBrowse link
G Npr2 natriuretic peptide receptor 2 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia ClinVar PMID:28492532 NCBI chrNW_004624868:4,974,690...4,993,886
Ensembl chrNW_004624868:4,974,810...4,993,817 		JBrowse link
acromesomelic dysplasia, Grebe type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gdf5 growth differentiation factor 5 ISO ClinVar Annotator: match by term: Grebe syndrome OMIM
ClinVar		 PMID:9288098 PMID:12124730 PMID:12900894 PMID:17384641 PMID:25741868 More... NCBI chrNW_004624842:3,958,814...3,963,713
Ensembl chrNW_004624842:3,959,617...3,963,020 		JBrowse link
acromesomelic dysplasia, Hunter-Thompson type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bmpr1b bone morphogenetic protein receptor type 1B ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 2C, Hunter-Thompson type ClinVar PMID:29322508 NCBI chrNW_004624757:22,697,639...23,142,209
Ensembl chrNW_004624757:22,955,666...23,142,499 		JBrowse link
G Gdf5 growth differentiation factor 5 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 2C, Hunter-Thompson type | ClinVar Annotator: match by term: Acromesomelic dysplasia, Hunter-Thompson type OMIM
ClinVar		 PMID:964999 PMID:2703235 PMID:8589725 PMID:17384641 PMID:25741868 More... NCBI chrNW_004624842:3,958,814...3,963,713
Ensembl chrNW_004624842:3,959,617...3,963,020 		JBrowse link
acromesomelic dysplasia, Maroteaux type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aptx aprataxin ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004624736:37,729,624...37,757,780
Ensembl chrNW_004624736:37,730,072...37,749,174 		JBrowse link
G Aqp3 aquaporin 3 (Gill blood group) ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004624736:38,194,722...38,200,961
Ensembl chrNW_004624736:38,194,545...38,201,036 		JBrowse link
G Aqp7 aquaporin 7 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004624736:38,130,992...38,148,444 JBrowse link
G Arhgef39 Rho guanine nucleotide exchange factor 39 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004624868:5,126,041...5,130,696
Ensembl chrNW_004624868:5,126,781...5,130,320 		JBrowse link
G Arid3c AT-rich interaction domain 3C ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004624736:39,016,483...39,023,701
Ensembl chrNW_004624736:39,016,483...39,023,668 		JBrowse link
G Atosb atos homolog B ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004624915:299,408...327,330
Ensembl chrNW_004624915:299,425...306,451 		JBrowse link
G B4galt1 beta-1,4-galactosyltransferase 1 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004624736:37,848,431...37,927,291
Ensembl chrNW_004624736:37,848,117...37,927,980 		JBrowse link
G Bag1 BAG cochaperone 1 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004624736:38,015,150...38,025,079
Ensembl chrNW_004624736:38,015,044...38,025,079 		JBrowse link
G Ca9 carbonic anhydrase 9 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004624868:5,110,602...5,131,167
Ensembl chrNW_004624868:5,109,846...5,116,949 		JBrowse link
G Ccdc107 coiled-coil domain containing 107 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004624868:5,129,818...5,133,780
Ensembl chrNW_004624868:5,130,938...5,133,871 		JBrowse link
G Ccin calicin ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004624868:4,536,042...4,537,911 JBrowse link
G Ccl19 C-C motif chemokine ligand 19 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004624736:39,088,741...39,090,745
Ensembl chrNW_004624736:39,088,921...39,090,394 		JBrowse link
G Ccl21 C-C motif chemokine ligand 21 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004624736:39,121,575...39,122,708
Ensembl chrNW_004624736:39,121,466...39,122,962 		JBrowse link
G Ccl27 C-C motif chemokine ligand 27 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004624736:39,055,705...39,056,722
Ensembl chrNW_004624736:39,055,726...39,057,630 		JBrowse link
G Cd72 CD72 molecule ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004624868:5,191,123...5,198,466
Ensembl chrNW_004624868:5,191,285...5,198,466 		JBrowse link
G Chmp5 charged multivesicular body protein 5 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004624736:38,025,247...38,044,808 JBrowse link
G Cimip2b ciliary microtubule inner protein 2B ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004624915:701,983...708,079 JBrowse link
G Clta clathrin light chain A ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004624868:4,419,554...4,443,475
Ensembl chrNW_004624868:4,419,554...4,443,477 		JBrowse link
G Cntfr ciliary neurotrophic factor receptor ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004624736:38,943,842...38,983,473
Ensembl chrNW_004624736:38,943,803...38,961,547 		JBrowse link
G Creb3 cAMP responsive element binding protein 3 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004624868:5,056,415...5,061,234
Ensembl chrNW_004624868:5,056,691...5,060,669 		JBrowse link
G Dcaf12 DDB1 and CUL4 associated factor 12 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004624736:38,488,120...38,528,500
Ensembl chrNW_004624736:38,489,466...38,527,706 		JBrowse link
G Dctn3 dynactin subunit 3 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004624736:39,007,099...39,015,595
Ensembl chrNW_004624736:39,007,099...39,015,562 		JBrowse link
G Dnai1 dynein axonemal intermediate chain 1 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004624736:38,858,918...38,922,092
Ensembl chrNW_004624736:38,859,050...38,922,097 		JBrowse link
G Dnaja1 DnaJ heat shock protein family (Hsp40) member A1 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004624736:37,780,852...37,793,594
Ensembl chrNW_004624736:37,780,867...37,793,594 		JBrowse link
G Dnajb5 DnaJ heat shock protein family (Hsp40) member B5 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004624915:195,536...206,688
Ensembl chrNW_004624915:195,669...204,172 		JBrowse link
G Enho energy homeostasis associated ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004624736:38,922,163...38,924,355
Ensembl chrNW_004624736:38,922,163...38,924,003 		JBrowse link
G Exosc3 exosome component 3 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004624930:1,393,087...1,403,483
Ensembl chrNW_004624930:1,393,087...1,398,347 		JBrowse link
G Fam219a family with sequence similarity 219 member A ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004624736:38,788,654...38,858,816
Ensembl chrNW_004624736:38,800,474...38,858,776 		JBrowse link
G Fam221b family with sequence similarity 221 member B ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004624868:4,956,480...4,967,751 JBrowse link
G Fancg FA complementation group G ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004624915:271,166...278,608
Ensembl chrNW_004624915:272,605...278,145 		JBrowse link
G Fbxo10 F-box protein 10 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004624930:1,120,571...1,170,856
Ensembl chrNW_004624930:1,120,573...1,170,788 		JBrowse link
G Frmpd1 FERM and PDZ domain containing 1 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004624930:1,268,527...1,364,017
Ensembl chrNW_004624930:1,268,904...1,364,230 		JBrowse link
G Galt galactose-1-phosphate uridylyltransferase ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004624736:39,040,139...39,043,449
Ensembl chrNW_004624736:39,040,009...39,043,444 		JBrowse link
G Gba2 glucosylceramidase beta 2 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004624868:5,045,566...5,056,419
Ensembl chrNW_004624868:5,045,594...5,056,416 		JBrowse link
G Glipr2 GLI pathogenesis related 2 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004624868:4,546,150...4,566,782
Ensembl chrNW_004624868:4,546,030...4,566,817 		JBrowse link
G Gne glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004624868:4,362,144...4,417,604
Ensembl chrNW_004624868:4,361,752...4,417,604 		JBrowse link
G Grhpr glyoxylate and hydroxypyruvate reductase ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004624930:1,043,643...1,054,216
Ensembl chrNW_004624930:1,043,036...1,054,216 		JBrowse link
G Hint2 histidine triad nucleotide binding protein 2 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004624868:4,969,076...4,971,336
Ensembl chrNW_004624868:4,969,085...4,971,336 		JBrowse link
G Hrct1 histidine rich carboxyl terminus 1 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004624868:4,863,984...4,866,450 JBrowse link
G Il11ra interleukin 11 receptor subunit alpha ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004624736:39,043,972...39,055,689
Ensembl chrNW_004624736:39,046,176...39,055,306 		JBrowse link
G Kif24 kinesin family member 24 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004624736:38,633,343...38,745,404
Ensembl chrNW_004624736:38,635,037...38,738,885 		JBrowse link
G LOC101712037 olfactory receptor 13J1 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004624868:4,910,350...4,911,288
Ensembl chrNW_004624868:4,910,350...4,911,288 		JBrowse link
G Melk maternal embryonic leucine zipper kinase ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004624930:247,018...333,240 JBrowse link
G Msmp microseminoprotein, prostate associated ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004624868:5,040,442...5,041,533
Ensembl chrNW_004624868:5,038,926...5,041,563 		JBrowse link
G Myorg myogenesis regulating glycosidase (putative) ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004624736:38,775,648...38,786,112 JBrowse link
G Ndufb6 NADH:ubiquinone oxidoreductase subunit B6 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004624736:37,223,046...37,235,144
Ensembl chrNW_004624736:37,223,153...37,235,027 		JBrowse link
G Nfx1 nuclear transcription factor, X-box binding 1 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004624736:38,054,231...38,124,497
Ensembl chrNW_004624736:38,044,117...38,127,512 		JBrowse link
G Nol6 nucleolar protein 6 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004624736:38,211,389...38,236,793
Ensembl chrNW_004624736:38,212,437...38,227,288 		JBrowse link
G Npr2 natriuretic peptide receptor 2 ISO ClinVar Annotator: match by term: ACROMESOMELIC DYSPLASIA 1 | ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type | ClinVar Annotator: match by term: Acromesomelic dysplasia, Maroteaux type | ClinVar Annotator: match by term: ST. HELENA DYSPLASIA OMIM
ClinVar		 PMID:9536098 PMID:15146390 PMID:15572448 PMID:16199547 PMID:16384845 More... NCBI chrNW_004624868:4,974,690...4,993,886
Ensembl chrNW_004624868:4,974,810...4,993,817 		JBrowse link
G Nudt2 nudix hydrolase 2 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004624736:38,745,476...38,761,156
Ensembl chrNW_004624736:38,744,895...38,761,499 		JBrowse link
G Pax5 paired box 5 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004624930:491,220...660,476
Ensembl chrNW_004624930:491,892...667,530 		JBrowse link
G Phf24 PHD finger protein 24 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004624915:164,992...189,112
Ensembl chrNW_004624915:165,026...189,460 		JBrowse link
G Pigo phosphatidylinositol glycan anchor biosynthesis class O ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004624915:284,079...294,696
Ensembl chrNW_004624915:284,333...291,467 		JBrowse link
G Polr1e RNA polymerase I subunit E ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004624930:1,104,387...1,120,580
Ensembl chrNW_004624930:1,104,311...1,122,077 		JBrowse link
G Reck reversion inducing cysteine rich protein with kazal motifs ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004624868:4,604,157...4,713,838
Ensembl chrNW_004624868:4,603,955...4,713,652 		JBrowse link
G Rgp1 RGP1 homolog, RAB6A GEF complex partner 1 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004624868:5,027,481...5,055,392
Ensembl chrNW_004624868:5,041,653...5,045,466 		JBrowse link
G Rigi RNA sensor RIG-I ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004624736:37,134,718...37,204,543
Ensembl chrNW_004624736:37,133,059...37,197,218 		JBrowse link
G Rnf38 ring finger protein 38 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004624930:37,327...180,038
Ensembl chrNW_004624930:40,652...84,228 		JBrowse link
G Rpp25l ribonuclease P/MRP subunit p25 like ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004624736:39,001,366...39,003,024
Ensembl chrNW_004624736:39,000,559...39,003,196 		JBrowse link
G Rusc2 RUN and SH3 domain containing 2 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004624915:636,775...701,983
Ensembl chrNW_004624915:676,266...705,447 		JBrowse link
G Sigmar1 sigma non-opioid intracellular receptor 1 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004624736:39,023,641...39,035,180
Ensembl chrNW_004624736:39,032,517...39,035,176 		JBrowse link
G Sit1 signaling threshold regulating transmembrane adaptor 1 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004624868:5,138,968...5,140,607
Ensembl chrNW_004624868:5,139,130...5,140,068 		JBrowse link
G Smu1 SMU1 DNA replication regulator and spliceosomal factor ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004624736:37,797,710...37,826,939
Ensembl chrNW_004624736:37,798,167...37,826,935 		JBrowse link
G Spag8 sperm associated antigen 8 ISO ClinVar Annotator: match by term: ACROMESOMELIC DYSPLASIA 1 | ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:15146390 PMID:15572448 PMID:16199547 PMID:16384845 PMID:18945719 More... NCBI chrNW_004624868:4,971,510...4,974,601
Ensembl chrNW_004624868:4,972,286...4,974,442 		JBrowse link
G Spata31f1 SPATA31 subfamily F member 1 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004624736:39,141,007...39,147,166 JBrowse link
G Spata31g1 SPATA31 subfamily G member 1 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004624915:240,678...246,151 JBrowse link
G Spink4 serine peptidase inhibitor Kazal type 4 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004624736:37,988,002...38,010,277
Ensembl chrNW_004624736:37,998,891...38,008,535 		JBrowse link
G Spmip6 sperm microtubule inner protein 6 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004624736:38,784,071...38,800,097
Ensembl chrNW_004624736:38,784,128...38,799,912 		JBrowse link
G Stoml2 stomatin like 2 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004624915:294,781...298,312
Ensembl chrNW_004624915:294,777...298,278 		JBrowse link
G Tesk1 testis associated actin remodelling kinase 1 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004624868:5,198,276...5,203,376
Ensembl chrNW_004624868:5,198,984...5,204,019 		JBrowse link
G Tln1 talin 1 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004624868:5,061,108...5,095,433
Ensembl chrNW_004624868:5,061,290...5,095,661 		JBrowse link
G Tmem215 transmembrane protein 215 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004624736:37,447,855...37,450,366
Ensembl chrNW_004624736:37,447,724...37,449,951 		JBrowse link
G Tmem8b transmembrane protein 8B ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004624868:4,925,096...4,956,764
Ensembl chrNW_004624868:4,924,116...4,956,325 		JBrowse link
G Tomm5 translocase of outer mitochondrial membrane 5 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004624930:1,185,424...1,188,592
Ensembl chrNW_004624930:1,185,780...1,189,179 		JBrowse link
G Topors TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004624736:37,209,709...37,221,921
Ensembl chrNW_004624736:37,210,291...37,221,747 		JBrowse link
G Tpm2 tropomyosin 2 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004624868:5,101,713...5,109,560
Ensembl chrNW_004624868:5,101,090...5,109,820 		JBrowse link
G Trmt10b tRNA methyltransferase 10B ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004624930:1,367,364...1,393,005
Ensembl chrNW_004624930:1,367,386...1,393,003 		JBrowse link
G Ubap1 ubiquitin associated protein 1 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004624736:38,573,139...38,633,193 JBrowse link
G Ubap2 ubiquitin associated protein 2 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004624736:38,335,334...38,465,521
Ensembl chrNW_004624736:38,336,136...38,439,565 		JBrowse link
G Ube2r2 ubiquitin conjugating enzyme E2 R2 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004624736:38,235,679...38,334,137
Ensembl chrNW_004624736:38,236,245...38,334,137 		JBrowse link
G Unc13b unc-13 homolog B ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004624915:327,633...530,522
Ensembl chrNW_004624915:327,401...531,886 		JBrowse link
G Vcp valosin containing protein ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004624915:253,240...270,440
Ensembl chrNW_004624915:253,240...270,501 		JBrowse link
G Zbtb5 zinc finger and BTB domain containing 5 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004624930:1,055,113...1,089,096
Ensembl chrNW_004624930:1,055,125...1,088,006 		JBrowse link
G Zcchc7 zinc finger CCHC-type containing 7 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chrNW_004624930:725,808...968,072
Ensembl chrNW_004624930:731,051...966,675 		JBrowse link
acromesomelic dysplasia-3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bmpr1b bone morphogenetic protein receptor type 1B ISO ClinVar Annotator: match by term: ACROMESOMELIC DYSPLASIA 3 | ClinVar Annotator: match by term: Acromesomelic dysplasia 3 | ClinVar Annotator: match by term: Acromesomelic dysplasia, Demirhan type | ClinVar Annotator: match by term: CHONDRODYSPLASIA, ACROMESOMELIC, WITH OR WITHOUT GENITAL ANOMALIES OMIM
ClinVar		 PMID:15805157 PMID:22374147 PMID:24129431 PMID:25741868 PMID:25758993 More... NCBI chrNW_004624757:22,697,639...23,142,209
Ensembl chrNW_004624757:22,955,666...23,142,499 		JBrowse link
acromesomelic dysplasia-4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prkg2 protein kinase cGMP-dependent 2 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 4 OMIM
ClinVar		 PMID:25741868 PMID:33106379 PMID:34782440 NCBI chrNW_004624757:9,799,777...9,904,825
Ensembl chrNW_004624757:9,798,808...9,906,517 		JBrowse link
Alazami Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctnnb1 catenin beta 1 ISO ClinVar Annotator: match by term: Alazami syndrome ClinVar PMID:23033978 PMID:24614104 PMID:25326669 PMID:25741868 PMID:26350204 More... NCBI chrNW_004624730:77,876,361...77,887,228
Ensembl chrNW_004624730:77,875,257...77,887,234 		JBrowse link
G Larp7 La ribonucleoprotein 7, transcriptional regulator ISO ClinVar Annotator: match by term: Alazami syndrome | ClinVar Annotator: match by term: LARP7-related condition OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:21937992 PMID:22865833 PMID:25741868 More... NCBI chrNW_004624838:6,331,393...6,426,151
Ensembl chrNW_004624838:6,413,494...6,425,939 		JBrowse link
AMED syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adh5 alcohol dehydrogenase 5 (class III), chi polypeptide ISO ClinVar Annotator: match by term: AMED syndrome, digenic OMIM
ClinVar		 PMID:25741868 PMID:33355142 NCBI chrNW_004625024:32,237...60,983
Ensembl chrNW_004625024:32,348...63,242 		JBrowse link
G Aldh2 aldehyde dehydrogenase 2 family member ISO ClinVar Annotator: match by term: BONE MARROW FAILURE SYNDROME 7, DIGENIC ClinVar PMID:2987944 PMID:4065146 PMID:6650498 PMID:7180842 PMID:7593603 More... NCBI chrNW_004624747:20,407,190...20,438,605
Ensembl chrNW_004624747:20,403,717...20,438,690 		JBrowse link
anauxetic dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arhgef39 Rho guanine nucleotide exchange factor 39 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chrNW_004624868:5,126,041...5,130,696
Ensembl chrNW_004624868:5,126,781...5,130,320 		JBrowse link
G Arid3c AT-rich interaction domain 3C ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chrNW_004624736:39,016,483...39,023,701
Ensembl chrNW_004624736:39,016,483...39,023,668 		JBrowse link
G Atosb atos homolog B ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chrNW_004624915:299,408...327,330
Ensembl chrNW_004624915:299,425...306,451 		JBrowse link
G Ca9 carbonic anhydrase 9 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chrNW_004624868:5,110,602...5,131,167
Ensembl chrNW_004624868:5,109,846...5,116,949 		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:11207361 PMID:11940090 More... NCBI chrNW_004624868:5,129,818...5,133,780
Ensembl chrNW_004624868:5,130,938...5,133,871 		JBrowse link
G Ccin calicin ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chrNW_004624868:4,536,042...4,537,911 JBrowse link
G Ccl19 C-C motif chemokine ligand 19 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chrNW_004624736:39,088,741...39,090,745
Ensembl chrNW_004624736:39,088,921...39,090,394 		JBrowse link
G Ccl21 C-C motif chemokine ligand 21 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chrNW_004624736:39,121,575...39,122,708
Ensembl chrNW_004624736:39,121,466...39,122,962 		JBrowse link
G Ccl27 C-C motif chemokine ligand 27 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chrNW_004624736:39,055,705...39,056,722
Ensembl chrNW_004624736:39,055,726...39,057,630 		JBrowse link
G Cd72 CD72 molecule ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chrNW_004624868:5,191,123...5,198,466
Ensembl chrNW_004624868:5,191,285...5,198,466 		JBrowse link
G Cimip2b ciliary microtubule inner protein 2B ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chrNW_004624915:701,983...708,079 JBrowse link
G Clta clathrin light chain A ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chrNW_004624868:4,419,554...4,443,475
Ensembl chrNW_004624868:4,419,554...4,443,477 		JBrowse link
G Cntfr ciliary neurotrophic factor receptor ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chrNW_004624736:38,943,842...38,983,473
Ensembl chrNW_004624736:38,943,803...38,961,547 		JBrowse link
G Creb3 cAMP responsive element binding protein 3 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chrNW_004624868:5,056,415...5,061,234
Ensembl chrNW_004624868:5,056,691...5,060,669 		JBrowse link
G Dctn3 dynactin subunit 3 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chrNW_004624736:39,007,099...39,015,595
Ensembl chrNW_004624736:39,007,099...39,015,562 		JBrowse link
G Dnai1 dynein axonemal intermediate chain 1 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chrNW_004624736:38,858,918...38,922,092
Ensembl chrNW_004624736:38,859,050...38,922,097 		JBrowse link
G Dnajb5 DnaJ heat shock protein family (Hsp40) member B5 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chrNW_004624915:195,536...206,688
Ensembl chrNW_004624915:195,669...204,172 		JBrowse link
G Enho energy homeostasis associated ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chrNW_004624736:38,922,163...38,924,355
Ensembl chrNW_004624736:38,922,163...38,924,003 		JBrowse link
G Fam219a family with sequence similarity 219 member A ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chrNW_004624736:38,788,654...38,858,816
Ensembl chrNW_004624736:38,800,474...38,858,776 		JBrowse link
G Fam221b family with sequence similarity 221 member B ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chrNW_004624868:4,956,480...4,967,751 JBrowse link
G Fancg FA complementation group G ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chrNW_004624915:271,166...278,608
Ensembl chrNW_004624915:272,605...278,145 		JBrowse link
G Galt galactose-1-phosphate uridylyltransferase ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chrNW_004624736:39,040,139...39,043,449
Ensembl chrNW_004624736:39,040,009...39,043,444 		JBrowse link
G Gba2 glucosylceramidase beta 2 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chrNW_004624868:5,045,566...5,056,419
Ensembl chrNW_004624868:5,045,594...5,056,416 		JBrowse link
G Glipr2 GLI pathogenesis related 2 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chrNW_004624868:4,546,150...4,566,782
Ensembl chrNW_004624868:4,546,030...4,566,817 		JBrowse link
G Gne glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chrNW_004624868:4,362,144...4,417,604
Ensembl chrNW_004624868:4,361,752...4,417,604 		JBrowse link
G Hint2 histidine triad nucleotide binding protein 2 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chrNW_004624868:4,969,076...4,971,336
Ensembl chrNW_004624868:4,969,085...4,971,336 		JBrowse link
G Hrct1 histidine rich carboxyl terminus 1 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chrNW_004624868:4,863,984...4,866,450 JBrowse link
G Il11ra interleukin 11 receptor subunit alpha ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chrNW_004624736:39,043,972...39,055,689
Ensembl chrNW_004624736:39,046,176...39,055,306 		JBrowse link
G LOC101712037 olfactory receptor 13J1 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chrNW_004624868:4,910,350...4,911,288
Ensembl chrNW_004624868:4,910,350...4,911,288 		JBrowse link
G LOC110347746 uncharacterized LOC110347746 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chrNW_004624736:39,055,705...39,060,637 JBrowse link
G Msmp microseminoprotein, prostate associated ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chrNW_004624868:5,040,442...5,041,533
Ensembl chrNW_004624868:5,038,926...5,041,563 		JBrowse link
G Myorg myogenesis regulating glycosidase (putative) ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chrNW_004624736:38,775,648...38,786,112 JBrowse link
G Npr2 natriuretic peptide receptor 2 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chrNW_004624868:4,974,690...4,993,886
Ensembl chrNW_004624868:4,974,810...4,993,817 		JBrowse link
G Phf24 PHD finger protein 24 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chrNW_004624915:164,992...189,112
Ensembl chrNW_004624915:165,026...189,460 		JBrowse link
G Pigo phosphatidylinositol glycan anchor biosynthesis class O ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chrNW_004624915:284,079...294,696
Ensembl chrNW_004624915:284,333...291,467 		JBrowse link
G Reck reversion inducing cysteine rich protein with kazal motifs ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chrNW_004624868:4,604,157...4,713,838
Ensembl chrNW_004624868:4,603,955...4,713,652 		JBrowse link
G Rgp1 RGP1 homolog, RAB6A GEF complex partner 1 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chrNW_004624868:5,027,481...5,055,392
Ensembl chrNW_004624868:5,041,653...5,045,466 		JBrowse link
G Rpp25l ribonuclease P/MRP subunit p25 like ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chrNW_004624736:39,001,366...39,003,024
Ensembl chrNW_004624736:39,000,559...39,003,196 		JBrowse link
G Rusc2 RUN and SH3 domain containing 2 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chrNW_004624915:636,775...701,983
Ensembl chrNW_004624915:676,266...705,447 		JBrowse link
G Sigmar1 sigma non-opioid intracellular receptor 1 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chrNW_004624736:39,023,641...39,035,180
Ensembl chrNW_004624736:39,032,517...39,035,176 		JBrowse link
G Sit1 signaling threshold regulating transmembrane adaptor 1 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chrNW_004624868:5,138,968...5,140,607
Ensembl chrNW_004624868:5,139,130...5,140,068 		JBrowse link
G Spag8 sperm associated antigen 8 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chrNW_004624868:4,971,510...4,974,601
Ensembl chrNW_004624868:4,972,286...4,974,442 		JBrowse link
G Spata31f1 SPATA31 subfamily F member 1 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chrNW_004624736:39,141,007...39,147,166 JBrowse link
G Spata31f3 SPATA31 subfamily F member 3 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chrNW_004624915:61,833...68,536 JBrowse link
G Spata31g1 SPATA31 subfamily G member 1 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chrNW_004624915:240,678...246,151 JBrowse link
G Spmip6 sperm microtubule inner protein 6 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chrNW_004624736:38,784,071...38,800,097
Ensembl chrNW_004624736:38,784,128...38,799,912 		JBrowse link
G Stoml2 stomatin like 2 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chrNW_004624915:294,781...298,312
Ensembl chrNW_004624915:294,777...298,278 		JBrowse link
G Tesk1 testis associated actin remodelling kinase 1 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chrNW_004624868:5,198,276...5,203,376
Ensembl chrNW_004624868:5,198,984...5,204,019 		JBrowse link
G Tln1 talin 1 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chrNW_004624868:5,061,108...5,095,433
Ensembl chrNW_004624868:5,061,290...5,095,661 		JBrowse link
G Tmem8b transmembrane protein 8B ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chrNW_004624868:4,925,096...4,956,764
Ensembl chrNW_004624868:4,924,116...4,956,325 		JBrowse link
G Tpm2 tropomyosin 2 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chrNW_004624868:5,101,713...5,109,560
Ensembl chrNW_004624868:5,101,090...5,109,820 		JBrowse link
G Unc13b unc-13 homolog B ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chrNW_004624915:327,633...530,522
Ensembl chrNW_004624915:327,401...531,886 		JBrowse link
G Vcp valosin containing protein ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chrNW_004624915:253,240...270,440
Ensembl chrNW_004624915:253,240...270,501 		JBrowse link
anauxetic dysplasia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc107 coiled-coil domain containing 107 ISO ClinVar Annotator: match by term: Spondylometaepiphyseal dysplasia Menger type ClinVar PMID:8034306 PMID:9156319 PMID:10026268 PMID:11207361 PMID:11940090 More... NCBI chrNW_004624868:5,129,818...5,133,780
Ensembl chrNW_004624868:5,130,938...5,133,871 		JBrowse link
G Pop1 POP1 homolog, ribonuclease P/MRP subunit ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004624763:5,264,003...5,299,000
Ensembl chrNW_004624763:5,269,847...5,300,723 		JBrowse link
anauxetic dysplasia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pop1 POP1 homolog, ribonuclease P/MRP subunit ISO ClinVar Annotator: match by term: Anauxetic dysplasia 2 | ClinVar Annotator: match by term: POP1-related condition OMIM
ClinVar		 PMID:21455487 PMID:21534943 PMID:25741868 PMID:27380734 PMID:28067412 More... NCBI chrNW_004624763:5,264,003...5,299,000
Ensembl chrNW_004624763:5,269,847...5,300,723 		JBrowse link
anauxetic dysplasia 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nepro nucleolus and neural progenitor protein ISO ClinVar Annotator: match by term: Anauxetic dysplasia 3 OMIM
ClinVar		 PMID:25741868 PMID:26633546 PMID:29620724 PMID:31250547 NCBI chrNW_004624731:35,514,696...35,528,822
Ensembl chrNW_004624731:35,514,769...35,528,659 		JBrowse link
Atelosteogenesis Type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Flnb filamin B ISO ClinVar Annotator: match by term: Atelosteogenesis type 3 | ClinVar Annotator: match by term: Atelosteogenesis type III OMIM
ClinVar		 PMID:9536098 PMID:14991055 PMID:17576681 PMID:20301736 PMID:22190451 More... NCBI chrNW_004624821:691,291...835,244
Ensembl chrNW_004624821:691,272...836,322 		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 ISO ClinVar Annotator: match by term: Autosomal dominant Robinow syndrome 1 ClinVar PMID:25045061 PMID:25741868 PMID:25817014 PMID:28492532 NCBI chrNW_004624818:8,267,111...8,283,755
Ensembl chrNW_004624818:8,267,128...8,278,725 		JBrowse link
G Dvl3 dishevelled segment polarity protein 3 ISO ClinVar Annotator: match by term: Autosomal dominant Robinow syndrome 1 ClinVar PMID:23806086 PMID:24088041 PMID:25741868 PMID:26924530 NCBI chrNW_004624730:72,396,437...72,412,260
Ensembl chrNW_004624730:72,396,343...72,413,175 		JBrowse link
G Fzd2 frizzled class receptor 2 ISO ClinVar Annotator: match by term: Autosomal dominant Robinow syndrome 1 ClinVar PMID:24458798 PMID:25741868 PMID:25759469 PMID:28492532 PMID:29276006 More... NCBI chrNW_004624795:577,350...584,110
Ensembl chrNW_004624795:578,571...580,235 		JBrowse link
G Ror2 receptor tyrosine kinase like orphan receptor 2 ISO ClinVar Annotator: match by term: Autosomal dominant Robinow syndrome 1 ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004624868:479,303...732,723
Ensembl chrNW_004624868:479,290...731,650 		JBrowse link
G Wnt5a Wnt family member 5A ISO ClinVar Annotator: match by term: Autosomal dominant Robinow syndrome 1 OMIM
ClinVar		 PMID:5771504 PMID:16602827 PMID:18414213 PMID:19918918 PMID:24716670 More... NCBI chrNW_004624822:1,824,378...1,843,599
Ensembl chrNW_004624822:1,825,238...1,841,288 		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: Autosomal dominant Robinow syndrome 2 ClinVar NCBI chrNW_004624787:11,989,587...12,176,925 JBrowse link
G Dvl1 dishevelled segment polarity protein 1 ISO ClinVar Annotator: match by term: Autosomal dominant Robinow syndrome 2 OMIM
ClinVar		 PMID:10319206 PMID:23806086 PMID:24088041 PMID:25045061 PMID:25741868 More... NCBI chrNW_004624818:8,267,111...8,283,755
Ensembl chrNW_004624818:8,267,128...8,278,725 		JBrowse link
G Dvl3 dishevelled segment polarity protein 3 ISO ClinVar Annotator: match by term: Autosomal dominant Robinow syndrome 2 ClinVar PMID:23806086 PMID:24088041 PMID:25741868 PMID:26924530 PMID:29276006 NCBI chrNW_004624730:72,396,437...72,412,260
Ensembl chrNW_004624730:72,396,343...72,413,175 		JBrowse link
G Fzd2 frizzled class receptor 2 ISO ClinVar Annotator: match by term: Autosomal dominant Robinow syndrome 2 ClinVar PMID:24458798 PMID:25741868 PMID:25759469 PMID:28492532 PMID:29276006 More... NCBI chrNW_004624795:577,350...584,110
Ensembl chrNW_004624795:578,571...580,235 		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: Autosomal dominant Robinow syndrome 3 | ClinVar Annotator: match by term: DVL3-related condition OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:23806086 PMID:24088041 PMID:25741868 More... NCBI chrNW_004624730:72,396,437...72,412,260
Ensembl chrNW_004624730:72,396,343...72,413,175 		JBrowse link
G Fzd2 frizzled class receptor 2 ISO ClinVar Annotator: match by term: Autosomal dominant Robinow syndrome 3 ClinVar PMID:29276006 NCBI chrNW_004624795:577,350...584,110
Ensembl chrNW_004624795:578,571...580,235 		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 ISO OMIM:268310 MouseDO NCBI chrNW_004624816:10,087,866...10,185,004
Ensembl chrNW_004624816:10,164,666...10,184,994 		JBrowse link
G Ror2 receptor tyrosine kinase like orphan receptor 2 ISO ClinVar Annotator: match by term: Autosomal recessive Robinow syndrome | ClinVar Annotator: match by term: COVESDEM SYNDROME | 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 OMIM
ClinVar		 PMID:10932186 PMID:10932187 PMID:10986040 PMID:15952209 PMID:16049033 More... NCBI chrNW_004624868:479,303...732,723
Ensembl chrNW_004624868:479,290...731,650 		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:28492532 PMID:29276006 NCBI chrNW_004624786:3,373,533...3,516,592
Ensembl chrNW_004624786:3,372,796...3,515,142 		JBrowse link
Boomerang dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Flnb filamin B ISO ClinVar Annotator: match by term: Boomerang dysplasia | ClinVar Annotator: match by term: Boomerang-like skeletal dysplasia OMIM
ClinVar		 PMID:12955767 PMID:14991055 PMID:17510210 PMID:25741868 PMID:28492532 NCBI chrNW_004624821:691,291...835,244
Ensembl chrNW_004624821:691,272...836,322 		JBrowse link
Brain-Lung-Thyroid Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abhd4 abhydrolase domain containing 4, N-acyl phospholipase B ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624825:9,088,907...9,101,474
Ensembl chrNW_004624825:9,088,957...9,102,419 		JBrowse link
G Acin1 apoptotic chromatin condensation inducer 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624820:9,444,435...9,483,867
Ensembl chrNW_004624820:9,444,467...9,483,975 		JBrowse link
G Adcy4 adenylate cyclase 4 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624820:8,170,258...8,186,214
Ensembl chrNW_004624820:8,169,816...8,189,168 		JBrowse link
G Ajuba ajuba LIM protein ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624820:9,551,664...9,562,773
Ensembl chrNW_004624820:9,552,287...9,563,472 		JBrowse link
G Akap6 A-kinase anchoring protein 6 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624838:3,992,769...4,393,055
Ensembl chrNW_004624838:3,999,663...4,393,055 		JBrowse link
G Ap1g2 adaptor related protein complex 1 subunit gamma 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624820:9,011,251...9,019,487
Ensembl chrNW_004624820:9,011,345...9,019,487 		JBrowse link
G Ap4s1 adaptor related protein complex 4 subunit sigma 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624820:1,214,991...1,265,051
Ensembl chrNW_004624820:1,214,662...1,265,243 		JBrowse link
G Arf6 ADP ribosylation factor 6 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624731:18,880,065...18,883,456
Ensembl chrNW_004624731:18,882,690...18,883,217 		JBrowse link
G Arhgap5 Rho GTPase activating protein 5 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624820:302,000...381,043
Ensembl chrNW_004624820:305,475...381,058 		JBrowse link
G Arhgef40 Rho guanine nucleotide exchange factor 40 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624825:7,067,010...7,084,928
Ensembl chrNW_004624825:7,067,138...7,084,663 		JBrowse link
G Baz1a bromodomain adjacent to zinc finger domain 1A ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624838:1,907,825...2,007,089
Ensembl chrNW_004624838:1,908,527...2,007,052 		JBrowse link
G Brms1l BRMS1 like transcriptional repressor ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624838:984,051...1,020,498
Ensembl chrNW_004624838:985,822...1,020,477 		JBrowse link
G Carmil3 capping protein regulator and myosin 1 linker 3 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624820:8,460,032...8,477,298
Ensembl chrNW_004624820:8,459,756...8,477,287 		JBrowse link
G Cbln3 cerebellin 3 precursor ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624820:8,084,910...8,090,580
Ensembl chrNW_004624820:8,085,705...8,087,053 		JBrowse link
G Cdh24 cadherin 24 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624820:9,484,779...9,494,891
Ensembl chrNW_004624820:9,485,919...9,494,990 		JBrowse link
G Cebpe CCAAT enhancer binding protein epsilon ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624820:9,423,725...9,425,338
Ensembl chrNW_004624820:9,423,725...9,425,338 		JBrowse link
G Cfl2 cofilin 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624838:2,032,658...2,036,893
Ensembl chrNW_004624838:2,031,895...2,037,728 		JBrowse link
G Chd8 chromodomain helicase DNA binding protein 8 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624825:7,411,629...7,475,111
Ensembl chrNW_004624825:7,411,629...7,474,526 		JBrowse link
G Chmp4a charged multivesicular body protein 4A ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624820:8,281,081...8,284,969 JBrowse link
G Cideb cell death inducing DFFA like effector b ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624820:8,196,608...8,199,346
Ensembl chrNW_004624820:8,196,653...8,199,367 		JBrowse link
G Clec14a C-type lectin domain containing 14A ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624813:7,635,356...7,637,300
Ensembl chrNW_004624813:7,635,808...7,637,169 		JBrowse link
G Cma1 chymase 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624820:8,021,965...8,024,763
Ensembl chrNW_004624820:8,021,959...8,024,851 		JBrowse link
G Cmtm5 CKLF like MARVEL transmembrane domain containing 5 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624820:9,185,467...9,188,333
Ensembl chrNW_004624820:9,185,305...9,188,477 		JBrowse link
G Coch cochlin ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624820:1,367,582...1,381,630
Ensembl chrNW_004624820:1,366,384...1,381,099 		JBrowse link
G Cpne6 copine 6 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624820:8,451,588...8,458,871
Ensembl chrNW_004624820:8,448,469...8,458,884 		JBrowse link
G CUNH14orf119 chromosome unknown C14orf119 homolog ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624820:9,441,533...9,445,056
Ensembl chrNW_004624820:9,441,541...9,444,255 		JBrowse link
G CUNH14orf28 chromosome unknown C14orf28 homolog ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624731:23,595,490...23,605,374 JBrowse link
G CUNH14orf93 chromosome unknown C14orf93 homolog ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624820:9,524,566...9,548,650
Ensembl chrNW_004624820:9,524,499...9,548,765 		JBrowse link
G Dad1 defender against cell death 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624825:9,062,984...9,081,939
Ensembl chrNW_004624825:9,045,163...9,082,634 		JBrowse link
G Dcaf11 DDB1 and CUL4 associated factor 11 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624820:8,407,597...8,415,301
Ensembl chrNW_004624820:8,407,596...8,415,295 		JBrowse link
G Dhrs1 dehydrogenase/reductase 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624820:8,204,627...8,213,512 JBrowse link
G Dnaaf2 dynein axonemal assembly factor 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624731:19,069,162...19,077,501
Ensembl chrNW_004624731:19,069,203...19,077,505 		JBrowse link
G Dtd2 D-aminoacyl-tRNA deacylase 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624820:859,554...870,951
Ensembl chrNW_004624820:859,511...868,653 		JBrowse link
G Eapp E2F associated phosphoprotein ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624838:2,159,869...2,180,879
Ensembl chrNW_004624838:2,160,036...2,180,597 		JBrowse link
G Eddm3b epididymal protein 3B ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624825:4,474,966...4,475,352 JBrowse link
G Efs embryonal Fyn-associated substrate ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624820:9,200,383...9,206,387
Ensembl chrNW_004624820:9,200,287...9,207,263 		JBrowse link
G Egln3 egl-9 family hypoxia inducible factor 3 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624838:2,819,719...2,848,094
Ensembl chrNW_004624838:2,819,631...2,847,827 		JBrowse link
G Emc9 ER membrane protein complex subunit 9 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624820:8,393,997...8,397,353
Ensembl chrNW_004624820:8,394,408...8,397,353 		JBrowse link
G Fancm FA complementation group M ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624731:23,342,313...23,391,877
Ensembl chrNW_004624731:23,340,460...23,392,040 		JBrowse link
G Fbxo33 F-box protein 33 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624813:8,791,774...8,812,870
Ensembl chrNW_004624813:8,791,774...8,812,916 		JBrowse link
G Fitm1 fat storage inducing transmembrane protein 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624820:8,402,347...8,407,399
Ensembl chrNW_004624820:8,402,347...8,403,663 		JBrowse link
G Fkbp3 FKBP prolyl isomerase 3 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624731:23,395,680...23,409,336 JBrowse link
G Foxa1 forkhead box A1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624955:234,289...239,541
Ensembl chrNW_004624955:231,506...239,508 		JBrowse link
G Foxg1 forkhead box G1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624820:3,542,767...3,547,180
Ensembl chrNW_004624820:3,543,687...3,545,147 		JBrowse link
G Fscb fibrous sheath CABYR binding protein ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624731:24,149,780...24,152,409 JBrowse link
G G2e3 G2/M-phase specific E3 ubiquitin protein ligase ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624820:1,717,602...1,775,175
Ensembl chrNW_004624820:1,715,455...1,774,525 		JBrowse link
G Gemin2 gem nuclear organelle associated protein 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624813:8,577,291...8,593,625
Ensembl chrNW_004624813:8,577,158...8,593,625 		JBrowse link
G Gmpr2 guanosine monophosphate reductase 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624820:8,312,253...8,319,585
Ensembl chrNW_004624820:8,312,386...8,319,799 		JBrowse link
G Gpr33 G protein-coupled receptor 33 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624820:839,284...840,276
Ensembl chrNW_004624820:839,284...840,276 		JBrowse link
G Haus4 HAUS augmin like complex subunit 4 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624820:9,569,134...9,578,195
Ensembl chrNW_004624820:9,570,971...9,578,464 		JBrowse link
G Heatr5a HEAT repeat containing 5A ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624820:891,562...1,022,586
Ensembl chrNW_004624820:907,396...1,021,455 		JBrowse link
G Hectd1 HECT domain E3 ubiquitin protein ligase 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624820:1,097,323...1,196,556
Ensembl chrNW_004624820:1,097,463...1,196,499 		JBrowse link
G Hnrnpc heterogeneous nuclear ribonucleoprotein C ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624825:7,198,387...7,276,936
Ensembl chrNW_004624825:7,205,292...7,276,889 		JBrowse link
G Homez homeobox and leucine zipper encoding ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624820:9,263,032...9,274,721 JBrowse link
G Il25 interleukin 25 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624820:9,188,709...9,192,180
Ensembl chrNW_004624820:9,188,612...9,191,990 		JBrowse link
G Insm2 INSM transcriptional repressor 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624838:1,269,909...1,272,849
Ensembl chrNW_004624838:1,271,100...1,272,764 		JBrowse link
G Ipo4 importin 4 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624820:8,352,513...8,361,282
Ensembl chrNW_004624820:8,352,493...8,361,282 		JBrowse link
G Irf9 interferon regulatory factor 9 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624820:8,369,830...8,376,593
Ensembl chrNW_004624820:8,370,289...8,376,950 		JBrowse link
G Jph4 junctophilin 4 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624820:9,000,864...9,010,700
Ensembl chrNW_004624820:9,000,833...9,009,517 		JBrowse link
G Khnyn KH and NYN domain containing ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624820:8,074,069...8,084,817
Ensembl chrNW_004624820:8,075,413...8,084,232 		JBrowse link
G Klhdc1 kelch domain containing 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624731:18,977,647...19,027,799
Ensembl chrNW_004624731:18,977,656...19,024,212 		JBrowse link
G Klhdc2 kelch domain containing 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624731:18,935,841...18,973,879
Ensembl chrNW_004624731:18,962,888...18,974,096 		JBrowse link
G Klhl28 kelch like family member 28 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624731:23,543,088...23,586,648
Ensembl chrNW_004624731:23,557,154...23,586,673 		JBrowse link
G L2hgdh L-2-hydroxyglutarate dehydrogenase ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624731:18,554,472...18,592,944
Ensembl chrNW_004624731:18,554,457...18,597,796 		JBrowse link
G LOC101697223 olfactory receptor 5AU1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624825:7,156,562...7,157,628
Ensembl chrNW_004624825:7,156,693...7,157,628 		JBrowse link
G LOC101702050 olfactory receptor 10G3 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624825:7,587,875...7,588,816
Ensembl chrNW_004624825:7,587,875...7,588,816 		JBrowse link
G LOC101702732 olfactory receptor 4E2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624825:7,646,103...7,647,044 JBrowse link
G Lrfn5 leucine rich repeat and fibronectin type III domain containing 5 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624813:10,930,009...11,196,036
Ensembl chrNW_004624813:11,049,888...11,196,095 		JBrowse link
G Lrp10 LDL receptor related protein 10 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624820:9,645,954...9,652,296
Ensembl chrNW_004624820:9,645,954...9,652,289 		JBrowse link
G Lrr1 leucine rich repeat protein 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624731:19,091,909...19,101,691
Ensembl chrNW_004624731:19,090,334...19,101,254 		JBrowse link
G Ltb4r leukotriene B4 receptor ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624820:8,187,496...8,196,381
Ensembl chrNW_004624820:8,187,496...8,189,562 		JBrowse link
G Ltb4r2 leukotriene B4 receptor 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624820:8,192,441...8,196,472
Ensembl chrNW_004624820:8,192,441...8,196,375 		JBrowse link
G Mbip MAP3K12 binding inhibitory protein 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624838:508,660...527,306
Ensembl chrNW_004624838:508,732...528,161 		JBrowse link
G Mdga2 MAM domain containing glycosylphosphatidylinositol anchor 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624731:20,951,651...21,760,267
Ensembl chrNW_004624731:20,951,954...21,754,936 		JBrowse link
G Mettl17 methyltransferase like 17 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624825:6,986,277...6,993,324
Ensembl chrNW_004624825:6,986,318...6,995,369 		JBrowse link
G Mettl3 methyltransferase 3, N6-adenosine-methyltransferase complex catalytic subunit ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624825:7,513,481...7,527,716
Ensembl chrNW_004624825:7,513,481...7,527,695 		JBrowse link
G Mgat2 alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624731:19,080,986...19,082,887
Ensembl chrNW_004624731:19,081,110...19,082,453 		JBrowse link
G Mia2 MIA SH3 domain ER export factor 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624813:8,650,615...8,776,264 JBrowse link
G Mipol1 mirror-image polydactyly 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624955:24,761...201,529 JBrowse link
G Mis18bp1 MIS18 binding protein 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624731:23,288,240...23,339,568
Ensembl chrNW_004624731:23,290,631...23,339,687 		JBrowse link
G Mmp14 matrix metallopeptidase 14 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624820:9,667,371...9,677,488
Ensembl chrNW_004624820:9,667,262...9,677,774 		JBrowse link
G Mrpl52 mitochondrial ribosomal protein L52 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624820:9,679,172...9,683,445
Ensembl chrNW_004624820:9,679,541...9,683,106 		JBrowse link
G Ndrg2 NDRG family member 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624825:7,008,475...7,017,422
Ensembl chrNW_004624825:7,008,475...7,017,676 		JBrowse link
G Nedd8 NEDD8 ubiquitin like modifier ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624820:8,319,763...8,329,748
Ensembl chrNW_004624820:8,319,832...8,329,748 		JBrowse link
G Nemf nuclear export mediator factor ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624731:18,917,097...18,963,490
Ensembl chrNW_004624731:18,917,191...18,961,764 		JBrowse link
G Nfatc4 nuclear factor of activated T cells 4 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624820:8,136,231...8,145,395
Ensembl chrNW_004624820:8,136,156...8,146,312 		JBrowse link
G Nfkbia NFKB inhibitor alpha ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624838:1,384,337...1,387,602
Ensembl chrNW_004624838:1,384,204...1,390,205 		JBrowse link
G Ngdn neuroguidin ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624820:9,092,270...9,102,189
Ensembl chrNW_004624820:9,092,139...9,102,192 		JBrowse link
G Nkx2-1 NK2 homeobox 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome | ClinVar Annotator: match by term: Choreoathetosis, hypothyroidism, and neonatal respiratory distress OMIM
ClinVar		 PMID:9536098 PMID:11854318 PMID:11854319 PMID:11971878 PMID:12891678 More... NCBI chrNW_004624838:300,902...304,944
Ensembl chrNW_004624838:300,458...305,517 		JBrowse link
G Nkx2-8 NK2 homeobox 8 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624838:227,941...234,431
Ensembl chrNW_004624838:228,153...229,728 		JBrowse link
G Nop9 NOP9 nucleolar protein ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624820:8,199,350...8,204,619
Ensembl chrNW_004624820:8,199,110...8,204,612 		JBrowse link
G Nova1 NOVA alternative splicing regulator 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624820:5,821,232...5,973,709
Ensembl chrNW_004624820:5,821,477...5,971,637 		JBrowse link
G Npas3 neuronal PAS domain protein 3 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624838:3,003,455...3,904,964
Ensembl chrNW_004624838:3,006,512...3,904,799 		JBrowse link
G Nrl neural retina leucine zipper ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624820:8,436,469...8,449,354
Ensembl chrNW_004624820:8,444,687...8,449,354 		JBrowse link
G Nubpl NUBP iron-sulfur cluster assembly factor, mitochondrial ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624820:562,180...767,434
Ensembl chrNW_004624820:567,217...791,817 		JBrowse link
G Nynrin NYN domain and retroviral integrase containing ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624820:8,093,119...8,114,465
Ensembl chrNW_004624820:8,094,908...8,118,679 		JBrowse link
G Oxa1l OXA1L mitochondrial inner membrane protein ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624820:9,757,615...9,763,686
Ensembl chrNW_004624820:9,757,840...9,763,640 		JBrowse link
G Pax9 paired box 9 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624838:129,725...147,572
Ensembl chrNW_004624838:133,476...149,636 		JBrowse link
G Pck2 phosphoenolpyruvate carboxykinase 2, mitochondrial ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624820:8,426,456...8,436,484
Ensembl chrNW_004624820:8,426,606...8,436,284 		JBrowse link
G Pnn pinin, desmosome associated protein ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624813:8,620,089...8,627,964
Ensembl chrNW_004624813:8,620,174...8,626,886 		JBrowse link
G Pole2 DNA polymerase epsilon 2, accessory subunit ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624731:19,027,668...19,063,268
Ensembl chrNW_004624731:19,027,721...19,063,113 		JBrowse link
G Ppp1r3e protein phosphatase 1 regulatory subunit 3E ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624820:9,246,477...9,255,803
Ensembl chrNW_004624820:9,248,989...9,252,604 		JBrowse link
G Ppp2r3c protein phosphatase 2 regulatory subunit B''gamma ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624838:1,627,632...1,655,079
Ensembl chrNW_004624838:1,627,873...1,657,475 		JBrowse link
G Prkd1 protein kinase D1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624820:2,408,562...2,726,199
Ensembl chrNW_004624820:2,408,360...2,726,606 		JBrowse link
G Prmt5 protein arginine methyltransferase 5 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624820:9,599,867...9,608,578
Ensembl chrNW_004624820:9,599,734...9,608,703 		JBrowse link
G Prpf39 pre-mRNA processing factor 39 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624731:23,409,610...23,450,286
Ensembl chrNW_004624731:23,409,610...23,450,772 		JBrowse link
G Psma6 proteasome 20S subunit alpha 6 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624838:1,449,362...1,474,597
Ensembl chrNW_004624838:1,449,266...1,486,382 		JBrowse link
G Psmb11 proteasome subunit beta 11 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624820:9,498,320...9,499,222
Ensembl chrNW_004624820:9,498,320...9,499,222 		JBrowse link
G Psmb5 proteasome 20S subunit beta 5 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624820:9,506,119...9,513,034
Ensembl chrNW_004624820:9,505,725...9,513,034 		JBrowse link
G Psme1 proteasome activator subunit 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624820:8,397,344...8,400,273
Ensembl chrNW_004624820:8,397,344...8,400,285 		JBrowse link
G Psme2 proteasome activator subunit 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624820:8,389,348...8,393,498
Ensembl chrNW_004624820:8,389,286...8,393,498 		JBrowse link
G Rab2b RAB2B, member RAS oncogene family ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624825:7,477,729...7,493,669
Ensembl chrNW_004624825:7,478,151...7,493,649 		JBrowse link
G Rabggta Rab geranylgeranyltransferase subunit alpha ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624820:8,230,560...8,236,843
Ensembl chrNW_004624820:8,230,893...8,236,843 		JBrowse link
G Ralgapa1 Ral GTPase activating protein catalytic subunit alpha 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624838:1,040,108...1,269,000
Ensembl chrNW_004624838:1,040,525...1,258,151 		JBrowse link
G Rbm23 RNA binding motif protein 23 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624820:9,610,274...9,624,523 JBrowse link
G Rec8 REC8 meiotic recombination protein ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624820:8,361,345...8,369,356
Ensembl chrNW_004624820:8,361,400...8,368,347 		JBrowse link
G Rem2 RRAD and GEM like GTPase 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624820:9,635,971...9,640,321
Ensembl chrNW_004624820:9,635,552...9,640,482 		JBrowse link
G Ripk3 receptor interacting serine/threonine kinase 3 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624820:8,165,546...8,169,172 JBrowse link
G Rnase13 ribonuclease A family member 13 (inactive) ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624825:7,024,168...7,026,096
Ensembl chrNW_004624825:7,025,342...7,025,803 		JBrowse link
G Rnase6 ribonuclease A family member k6 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624825:4,468,213...4,469,557
Ensembl chrNW_004624825:4,468,213...4,469,566 		JBrowse link
G Rnase7 ribonuclease A family member 7 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624825:7,034,523...7,036,967
Ensembl chrNW_004624825:7,036,229...7,036,702 		JBrowse link
G Rnf212b ring finger protein 212B ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624820:9,268,727...9,322,963 JBrowse link
G Rnf31 ring finger protein 31 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624820:8,376,530...8,388,596
Ensembl chrNW_004624820:8,375,871...8,388,569 		JBrowse link
G Rpgrip1 RPGR interacting protein 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624825:7,289,385...7,366,388
Ensembl chrNW_004624825:7,296,662...7,366,196 		JBrowse link
G Rpl10l ribosomal protein L10 like ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624731:21,941,646...21,944,165
Ensembl chrNW_004624731:21,941,818...21,942,462 		JBrowse link
G Rpl36al ribosomal protein L36a like ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624731:19,082,925...19,084,464
Ensembl chrNW_004624731:19,027,587...19,085,171 		JBrowse link
G Rps29 ribosomal protein S29 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624731:19,107,593...19,109,651 JBrowse link
G Sall2 spalt like transcription factor 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624825:7,536,350...7,551,168
Ensembl chrNW_004624825:7,535,781...7,551,255 		JBrowse link
G Scfd1 sec1 family domain containing 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624820:1,614,884...1,714,020 JBrowse link
G Sdr39u1 short chain dehydrogenase/reductase family 39U member 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624820:8,072,477...8,075,664
Ensembl chrNW_004624820:8,072,577...8,075,673 		JBrowse link
G Sec23a SEC23 homolog A, COPII coat complex component ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624813:8,502,473...8,558,078
Ensembl chrNW_004624813:8,499,721...8,558,110 		JBrowse link
G Slc22a17 solute carrier family 22 member 17 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624820:9,210,015...9,216,620
Ensembl chrNW_004624820:9,209,864...9,220,087 		JBrowse link
G Slc25a21 solute carrier family 25 member 21 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624838:68,999...129,463
Ensembl chrNW_004624838:75,767...128,843 		JBrowse link
G Slc39a2 solute carrier family 39 member 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624825:6,996,864...7,011,917
Ensembl chrNW_004624825:6,999,039...7,002,141 		JBrowse link
G Slc7a7 solute carrier family 7 member 7 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624820:9,692,057...9,757,251
Ensembl chrNW_004624820:9,708,482...9,757,251 		JBrowse link
G Slc7a8 solute carrier family 7 member 8 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624820:9,365,167...9,418,346
Ensembl chrNW_004624820:9,365,093...9,419,045 		JBrowse link
G Snx6 sorting nexin 6 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624838:2,105,558...2,146,064
Ensembl chrNW_004624838:2,105,619...2,145,268 		JBrowse link
G Sos2 SOS Ras/Rho guanine nucleotide exchange factor 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624731:18,601,652...18,694,593
Ensembl chrNW_004624731:18,601,651...18,695,603 		JBrowse link
G Sptssa serine palmitoyltransferase small subunit A ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624838:2,207,003...2,231,838
Ensembl chrNW_004624838:2,206,917...2,231,518 		JBrowse link
G Srp54 signal recognition particle 54 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624838:1,697,863...1,747,115
Ensembl chrNW_004624838:1,697,863...1,747,136 		JBrowse link
G Sstr1 somatostatin receptor 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624813:7,538,104...7,543,836
Ensembl chrNW_004624813:7,539,304...7,540,479 		JBrowse link
G Strn3 striatin 3 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624820:1,264,267...1,364,634
Ensembl chrNW_004624820:1,264,200...1,366,342 		JBrowse link
G Stxbp6 syntaxin binding protein 6 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624820:7,450,825...7,724,175
Ensembl chrNW_004624820:7,450,857...7,724,304 		JBrowse link
G Supt16h SPT16 homolog, facilitates chromatin remodeling subunit ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624825:7,366,448...7,410,847
Ensembl chrNW_004624825:7,367,325...7,410,823 		JBrowse link
G Tgm1 transglutaminase 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624820:8,239,087...8,252,716
Ensembl chrNW_004624820:8,239,904...8,252,541 		JBrowse link
G Thtpa thiamine triphosphatase ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624820:9,010,936...9,022,935
Ensembl chrNW_004624820:9,020,179...9,022,057 		JBrowse link
G Tinf2 TERF1 interacting nuclear factor 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624820:8,262,171...8,265,275
Ensembl chrNW_004624820:8,262,595...8,311,872 		JBrowse link
G Tm9sf1 transmembrane 9 superfamily member 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624820:8,345,959...8,352,280
Ensembl chrNW_004624820:8,343,776...8,352,095 		JBrowse link
G Tmem253 transmembrane protein 253 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624825:7,093,627...7,098,746
Ensembl chrNW_004624825:7,095,542...7,097,636 		JBrowse link
G Togaram1 TOG array regulator of axonemal microtubules 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624731:23,465,516...23,542,960
Ensembl chrNW_004624731:23,461,859...23,542,950 		JBrowse link
G Tox4 TOX high mobility group box family member 4 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624825:7,493,911...7,511,852
Ensembl chrNW_004624825:7,493,953...7,511,846 		JBrowse link
G Tppp2 tubulin polymerization promoting protein family member 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624825:7,021,146...7,023,129
Ensembl chrNW_004624825:7,021,639...7,023,027 		JBrowse link
G Trappc6b trafficking protein particle complex subunit 6B ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624813:8,598,451...8,615,687
Ensembl chrNW_004624813:8,600,536...8,615,746 		JBrowse link
G Tssk4 testis specific serine kinase 4 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624820:8,285,440...8,345,918
Ensembl chrNW_004624820:8,286,307...8,289,604 		JBrowse link
G Ttc6 tetratricopeptide repeat domain 6 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624955:240,060...486,195 JBrowse link
G Vcpkmt valosin containing protein lysine methyltransferase ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624731:18,694,765...18,704,199
Ensembl chrNW_004624731:18,694,647...18,704,199 		JBrowse link
G Zfhx2 zinc finger homeobox 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624820:9,025,569...9,057,084
Ensembl chrNW_004624820:9,041,153...9,053,975 		JBrowse link
G Znf219 zinc finger protein 219 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624825:7,084,757...7,098,942
Ensembl chrNW_004624825:7,084,757...7,090,725 		JBrowse link
CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Iars2 isoleucyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia OMIM
ClinVar		 PMID:8409271 PMID:25130867 PMID:25741868 PMID:28328135 PMID:28492532 More... NCBI chrNW_004624835:3,725,233...3,763,279
Ensembl chrNW_004624835:3,725,132...3,766,284 		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: COFS syndrome | ClinVar Annotator: match by term: Cerebrooculofacioskeletal Syndrome ClinVar PMID:18414213 PMID:25741868 PMID:28492532 NCBI chrNW_004624928:458,651...532,201
Ensembl chrNW_004624928:463,279...530,115 		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 PMID:28492532 NCBI chrNW_004624907:2,249,323...2,263,999
Ensembl chrNW_004624907:2,250,133...2,263,947 		JBrowse link
G Ercc6 ERCC excision repair 6, chromatin remodeling factor susceptibility ISO ClinVar Annotator: match by term: CEREBROOCULOFACIOSKELETAL SYNDROME 1 | ClinVar Annotator: match by term: Cerebrooculofacioskeletal syndrome 1 | ClinVar Annotator: match by term: PENA-SHOKEIR SYNDROME, TYPE II ClinVar
OMIM		 PMID:887325 PMID:1339317 PMID:7063265 PMID:9150142 PMID:9443879 More... NCBI chrNW_004624928:458,651...532,201
Ensembl chrNW_004624928:463,279...530,115 		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 ClinVar Annotator: match by term: Cerebrooculofacioskeletal syndrome 2 OMIM
ClinVar		 PMID:3341805 PMID:7585650 PMID:7825573 PMID:7920640 PMID:8571952 More... NCBI chrNW_004624907:2,249,323...2,263,999
Ensembl chrNW_004624907:2,250,133...2,263,947 		JBrowse link
G Klc3 kinesin light chain 3 ISO ClinVar Annotator: match by term: Cerebrooculofacioskeletal syndrome 2 ClinVar PMID:25741868 NCBI chrNW_004624907:2,242,149...2,250,533
Ensembl chrNW_004624907:2,245,731...2,250,378 		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 OMIM
ClinVar		 PMID:8818951 PMID:9096355 PMID:9536098 PMID:11443545 PMID:17466625 More... NCBI chrNW_004624793:8,632,581...8,657,514
Ensembl chrNW_004624793:8,632,471...8,657,346 		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 OMIM
ClinVar		 PMID:17273966 PMID:23623389 PMID:25741868 PMID:28492532 PMID:33116287 More... NCBI chrNW_004624907:2,288,380...2,298,909
Ensembl chrNW_004624907:2,288,423...2,298,373 		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 chrNW_004624907:2,286,040...2,288,533
Ensembl chrNW_004624907:2,286,050...2,288,242 		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 chrNW_004624907:2,288,380...2,298,909
Ensembl chrNW_004624907:2,288,423...2,298,373 		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 chrNW_004624907:2,249,323...2,263,999
Ensembl chrNW_004624907:2,250,133...2,263,947 		JBrowse link
G Ercc3 ERCC excision repair 3, TFIIH core complex helicase subunit ISO ClinVar Annotator: match by term: XERODERMA PIGMENTOSUM B/COCKAYNE SYNDROME ClinVar PMID:24728327 PMID:25741868 PMID:28492532 NCBI chrNW_004624732:13,730,648...13,776,886
Ensembl chrNW_004624732:13,729,947...13,776,870 		JBrowse link
G Ercc4 ERCC excision repair 4, endonuclease catalytic subunit ISO ClinVar Annotator: match by term: Progeroid nanism ClinVar PMID:8797827 PMID:9485007 PMID:9579555 PMID:15159313 PMID:15886521 More... NCBI chrNW_004624782:4,508,758...4,537,751
Ensembl chrNW_004624782:4,512,650...4,537,701 		JBrowse link
G Ercc5 ERCC excision repair 5, endonuclease ISO ClinVar Annotator: match by term: Xeroderma pigmentosum and Cockayne syndrome complex | ClinVar Annotator: match by term: Xeroderma pigmentosum group G/Cockayne syndrome ClinVar PMID:2478446 PMID:8317483 PMID:9096355 PMID:11228268 PMID:25741868 More... NCBI chrNW_004624793:8,632,581...8,657,514
Ensembl chrNW_004624793:8,632,471...8,657,346 		JBrowse link
G Ercc6 ERCC excision repair 6, chromatin remodeling factor ISO ClinVar Annotator: match by term: Cockayne syndrome | ClinVar Annotator: match by term: Progeroid nanism ClinVar PMID:7264357 PMID:9443879 PMID:9777763 PMID:15486090 PMID:16199547 More... NCBI chrNW_004624928:458,651...532,201
Ensembl chrNW_004624928:463,279...530,115 		JBrowse link
G Ercc8 ERCC excision repair 8, CSA ubiquitin ligase complex subunit ISO ClinVar Annotator: match by term: Cockayne syndrome | ClinVar Annotator: match by term: Progeroid nanism ClinVar PMID:7664335 PMID:9338586 PMID:9536098 PMID:14661080 PMID:15744458 More... NCBI chrNW_004624815:9,054,576...9,135,136
Ensembl chrNW_004624815:9,054,651...9,134,286 		JBrowse link
G Ghr growth hormone receptor ISO RGD PMID:17326724 RGD:10003139 NCBI chrNW_004624759:12,282,295...12,570,106
Ensembl chrNW_004624759:12,285,594...12,570,906 		JBrowse link
G Igf1 insulin like growth factor 1 ISO RGD PMID:17326724 RGD:10003139 NCBI chrNW_004624750:5,881,065...5,954,799
Ensembl chrNW_004624750:5,881,091...5,952,300 		JBrowse link
G Ndufaf2 NADH:ubiquinone oxidoreductase complex assembly factor 2 ISO ClinVar Annotator: match by term: Cockayne syndrome | ClinVar Annotator: match by term: Progeroid nanism ClinVar PMID:14661080 PMID:15744458 PMID:19329487 PMID:19894250 PMID:24033266 More... NCBI chrNW_004624815:8,862,725...9,054,539
Ensembl chrNW_004624815:8,863,827...9,054,453 		JBrowse link
G Xpa XPA, DNA damage recognition and repair factor ISO RGD PMID:19114557 RGD:10401087 NCBI chrNW_004624825:3,138,386...3,162,774
Ensembl chrNW_004624825:3,137,823...3,162,294 		JBrowse link
Cockayne syndrome A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Depdc1b DEP domain containing 1B ISO ClinVar Annotator: match by term: Cockayne syndrome type 1 ClinVar NCBI chrNW_004624815:9,289,221...9,372,580
Ensembl chrNW_004624815:9,289,292...9,371,716 		JBrowse link
G Elovl7 ELOVL fatty acid elongase 7 ISO ClinVar Annotator: match by term: Cockayne syndrome type 1 ClinVar NCBI chrNW_004624815:9,154,070...9,247,251
Ensembl chrNW_004624815:9,190,454...9,247,746 		JBrowse link
G Ercc8 ERCC excision repair 8, CSA ubiquitin ligase complex subunit ISO ClinVar Annotator: match by term: Cockayne syndrome type 1 | ClinVar Annotator: match by term: Cockayne syndrome type 1 | ClinVar Annotator: match by term: ERCC8-related condition OMIM
ClinVar		 PMID:7664335 PMID:9338586 PMID:9536098 PMID:14661080 PMID:15744458 More... NCBI chrNW_004624815:9,054,576...9,135,136
Ensembl chrNW_004624815:9,054,651...9,134,286 		JBrowse link
G Ndufaf2 NADH:ubiquinone oxidoreductase complex assembly factor 2 ISO ClinVar Annotator: match by term: Cockayne syndrome type 1 | ClinVar Annotator: match by term: Cockayne syndrome type 1 ClinVar PMID:14661080 PMID:15744458 PMID:18180188 PMID:19329487 PMID:19384974 More... NCBI chrNW_004624815:8,862,725...9,054,539
Ensembl chrNW_004624815:8,863,827...9,054,453 		JBrowse link
Cockayne syndrome B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arhgap22 Rho GTPase activating protein 22 ISO ClinVar Annotator: match by term: Cockayne Syndrome, Type II ClinVar PMID:25741868 PMID:38177409 NCBI chrNW_004624928:1,265,592...1,433,947 JBrowse link
G Asah2 N-acylsphingosine amidohydrolase 2 ISO ClinVar Annotator: match by term: Cockayne Syndrome, Type II ClinVar PMID:25741868 PMID:38177409 NCBI chrNW_004624791:12,906,908...13,059,033
Ensembl chrNW_004624791:12,907,485...13,059,005 		JBrowse link
G Chat choline O-acetyltransferase ISO ClinVar Annotator: match by term: Cockayne Syndrome, Type II ClinVar PMID:25741868 PMID:38177409 NCBI chrNW_004624928:357,812...401,668
Ensembl chrNW_004624928:360,704...399,714 		JBrowse link
G CUNH10orf53 chromosome unknown C10orf53 homolog ISO ClinVar Annotator: match by term: Cockayne Syndrome, Type II ClinVar PMID:25741868 PMID:38177409 NCBI chrNW_004624928:285,288...350,511
Ensembl chrNW_004624928:309,959...350,471 		JBrowse link
G CUNH10orf71 chromosome unknown C10orf71 homolog ISO ClinVar Annotator: match by term: Cockayne Syndrome, Type II ClinVar PMID:25741868 PMID:38177409 NCBI chrNW_004624928:614,036...636,557
Ensembl chrNW_004624928:614,610...618,845 		JBrowse link
G Drgx dorsal root ganglia homeobox ISO ClinVar Annotator: match by term: Cockayne Syndrome, Type II ClinVar PMID:25741868 PMID:38177409 NCBI chrNW_004624928:566,405...592,561
Ensembl chrNW_004624928:566,793...592,507 		JBrowse link
G Ercc6 ERCC excision repair 6, chromatin remodeling factor susceptibility ISO ClinVar Annotator: match by term: Cockayne Syndrome, Type II | ClinVar Annotator: match by term: Cockayne syndrome B ClinVar
OMIM		 PMID:887325 PMID:1339317 PMID:7063265 PMID:7264357 PMID:9150142 More... NCBI chrNW_004624928:458,651...532,201
Ensembl chrNW_004624928:463,279...530,115 		JBrowse link
G Fam170b family with sequence similarity 170 member B ISO ClinVar Annotator: match by term: Cockayne Syndrome, Type II ClinVar PMID:25741868 PMID:38177409 NCBI chrNW_004624928:821,167...823,610 JBrowse link
G Lrrc18 leucine rich repeat containing 18 ISO ClinVar Annotator: match by term: Cockayne Syndrome, Type II ClinVar PMID:25741868 PMID:38177409 NCBI chrNW_004624928:980,324...1,004,150
Ensembl chrNW_004624928:980,389...1,004,137 		JBrowse link
G Mapk8 mitogen-activated protein kinase 8 ISO ClinVar Annotator: match by term: Cockayne Syndrome, Type II ClinVar PMID:25741868 PMID:38177409 NCBI chrNW_004624928:1,442,216...1,494,275
Ensembl chrNW_004624928:1,439,146...1,494,266 		JBrowse link
G Ncoa4 nuclear receptor coactivator 4 ISO ClinVar Annotator: match by term: Cockayne Syndrome, Type II ClinVar PMID:25741868 PMID:38177409 NCBI chrNW_004624928:6,298...32,051
Ensembl chrNW_004624928:18,148...30,594 		JBrowse link
G Ogdhl oxoglutarate dehydrogenase L ISO ClinVar Annotator: match by term: Cockayne Syndrome, Type II ClinVar PMID:25741868 PMID:38177409 NCBI chrNW_004624928:250,483...271,633
Ensembl chrNW_004624928:251,907...273,359 		JBrowse link
G Parg poly(ADP-ribose) glycohydrolase ISO ClinVar Annotator: match by term: Cockayne Syndrome, Type II ClinVar PMID:25741868 PMID:38177409 NCBI chrNW_004624928:54,610...188,948
Ensembl chrNW_004624928:54,874...186,353 		JBrowse link
G Sgms1 sphingomyelin synthase 1 ISO ClinVar Annotator: match by term: Cockayne Syndrome, Type II ClinVar PMID:25741868 PMID:38177409 NCBI chrNW_004624791:13,096,268...13,490,220
Ensembl chrNW_004624791:13,097,808...13,146,544 		JBrowse link
G Slc18a3 solute carrier family 18 member A3 ISO ClinVar Annotator: match by term: Cockayne Syndrome, Type II ClinVar PMID:25741868 PMID:38177409 NCBI chrNW_004624928:403,114...405,560
Ensembl chrNW_004624928:403,503...405,095 		JBrowse link
G Tmem273 transmembrane protein 273 ISO ClinVar Annotator: match by term: Cockayne Syndrome, Type II ClinVar PMID:25741868 PMID:38177409 NCBI chrNW_004624928:774,664...775,533 JBrowse link
G Vstm4 V-set and transmembrane domain containing 4 ISO ClinVar Annotator: match by term: Cockayne Syndrome, Type II ClinVar PMID:25741868 PMID:38177409 NCBI chrNW_004624928:847,501...924,779
Ensembl chrNW_004624928:841,527...924,785 		JBrowse link
G Wdfy4 WDFY family member 4 ISO ClinVar Annotator: match by term: Cockayne Syndrome, Type II ClinVar PMID:25741868 PMID:38177409 NCBI chrNW_004624928:943,547...1,243,954
Ensembl chrNW_004624928:943,864...1,221,243 		JBrowse link
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:25741868 PMID:26467025 PMID:28492532 NCBI chrNW_004624789:3,557,811...3,587,814
Ensembl chrNW_004624789:3,557,797...3,587,703 		JBrowse link
G Lhx3 LIM homeobox 3 ISO ClinVar Annotator: match by term: Combined Pituitary Hormone Deficiency, Recessive ClinVar NCBI chrNW_004624760:1,428,496...1,435,414
Ensembl chrNW_004624760:1,429,384...1,435,414 		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 PMID:31755341 NCBI chrNW_004624789:3,589,863...3,605,655
Ensembl chrNW_004624789:3,592,214...3,605,537 		JBrowse link
G Prop1 PROP paired-like homeobox 1 ISO ClinVar Annotator: match by term: Combined Pituitary Hormone Deficiency, Recessive | ClinVar Annotator: match by term: Pituitary hormone deficiency, combined, 2 OMIM
ClinVar		 PMID:9462743 PMID:9661653 PMID:9745452 PMID:9768691 PMID:9824293 More... NCBI chrNW_004624733:41,852,638...41,856,493
Ensembl chrNW_004624733:41,850,474...41,856,459 		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: LHX3-related condition | ClinVar Annotator: match by term: Winkelman Bethge Pfeiffer syndrome OMIM
ClinVar		 PMID:10835633 PMID:12780757 PMID:16199547 PMID:16394081 PMID:16940453 More... NCBI chrNW_004624760:1,428,496...1,435,414
Ensembl chrNW_004624760:1,429,384...1,435,414 		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 ISO protein:decreased expression:frontal cortex (rat) RGD PMID:23459330 RGD:11049475 NCBI chrNW_004624814:10,063,157...10,073,143
Ensembl chrNW_004624814:10,063,092...10,073,313 		JBrowse link
G Atp5pd ATP synthase peripheral stalk subunit d ISO protein:altered expression:cerebral cortex (rat) RGD PMID:21575372 RGD:11049155 NCBI chrNW_004624801:4,857,689...4,863,249
Ensembl chrNW_004624801:4,857,692...4,861,430 		JBrowse link
G Bglap bone gamma-carboxyglutamate protein ISO mRNA,protein:decreased expression:skull, serum RGD PMID:7920889 RGD:6483557 NCBI chrNW_004624885:1,526,625...1,528,235
Ensembl chrNW_004624885:1,527,538...1,528,109 		JBrowse link
G Duox2 dual oxidase 2 ISO ClinVar Annotator: match by term: Congenital hypothyroidism ClinVar PMID:12110737 PMID:16199547 PMID:16322276 PMID:16608528 PMID:17121535 More... NCBI chrNW_004624731:14,121,855...14,139,344
Ensembl chrNW_004624731:14,122,608...14,138,121 		JBrowse link
G Duoxa2 dual oxidase maturation factor 2 ISO ClinVar Annotator: match by term: Congenital hypothyroidism ClinVar PMID:25741868 PMID:28492532 PMID:31980526 PMID:33651715 PMID:33692749 NCBI chrNW_004624731:14,118,526...14,121,811
Ensembl chrNW_004624731:14,118,426...14,121,928 		JBrowse link
G Egr1 early growth response 1 ISO RGD PMID:23079472 RGD:10395304 NCBI chrNW_004624743:31,247,855...31,251,675
Ensembl chrNW_004624743:31,247,516...31,252,205 		JBrowse link
G Fos Fos proto-oncogene, AP-1 transcription factor subunit ISO mRNA:decreased expression:hippocampus RGD PMID:29330744 RGD:405650592 NCBI chrNW_004624734:26,424,053...26,427,431
Ensembl chrNW_004624734:26,423,079...26,427,732 		JBrowse link
G Foxe1 forkhead box E1 ISO MouseDO NCBI chrNW_004624825:2,979,447...2,981,412
Ensembl chrNW_004624825:2,980,176...2,981,303 		JBrowse link
G G6pd glucose-6-phosphate dehydrogenase ISO protein:decreased expression:hippocampus RGD PMID:23693027 RGD:10449124 NCBI chrNW_004624946:989,376...1,001,787
Ensembl chrNW_004624946:986,107...1,001,955 		JBrowse link
G Ghr growth hormone receptor treatment ISO RGD PMID:21162131 RGD:10003146 NCBI chrNW_004624759:12,282,295...12,570,106
Ensembl chrNW_004624759:12,285,594...12,570,906 		JBrowse link
G Igf1 insulin like growth factor 1 ISO protein:decreased expression:serum (rat) RGD PMID:1718729 RGD:12910128 NCBI chrNW_004624750:5,881,065...5,954,799
Ensembl chrNW_004624750:5,881,091...5,952,300 		JBrowse link
G Igsf1 immunoglobulin superfamily member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23143598 NCBI chrNW_004624797:10,780,294...10,795,750
Ensembl chrNW_004624797:10,780,306...10,795,724 		JBrowse link
G Inhbb inhibin subunit beta B ISO mRNA:decreased expression:testes (rat) RGD PMID:7819453 RGD:9743921 NCBI chrNW_004624732:24,754,601...24,755,890
Ensembl chrNW_004624732:24,754,618...24,755,995 		JBrowse link
G Iyd iodotyrosine deiodinase ISO ClinVar Annotator: match by term: Congenital hypothyroidism ClinVar NCBI chrNW_004624785:7,799,975...7,824,611
Ensembl chrNW_004624785:7,800,408...7,824,647 		JBrowse link
G Nefh neurofilament heavy chain ISO protein:decreased expression, increased phosphorylation RGD PMID:18845185 RGD:9693732 NCBI chrNW_004624747:5,806,576...5,816,158
Ensembl chrNW_004624747:5,806,645...5,815,554 		JBrowse link
G Nefl neurofilament light chain ISO protein:decreased expression, increased phosphorylation RGD PMID:18845185 RGD:9693732 NCBI chrNW_004624758:20,063,109...20,068,459
Ensembl chrNW_004624758:20,062,685...20,068,609 		JBrowse link
G Nefm neurofilament medium chain ISO protein:decreased expression, increased phosphorylation RGD PMID:18845185 RGD:9693732 NCBI chrNW_004624758:20,030,450...20,036,105 JBrowse link
G Ngfr nerve growth factor receptor treatment ISO RGD PMID:23312094 RGD:10414076 NCBI chrNW_004624795:5,623,686...5,639,545
Ensembl chrNW_004624795:5,623,700...5,639,655 		JBrowse link
G Pax8 paired box 8 ISO ClinVar Annotator: match by term: Congenital hypothyroidism ClinVar PMID:16763387 PMID:25146893 PMID:26362610 NCBI chrNW_004624749:13,291,880...13,358,066
Ensembl chrNW_004624749:13,300,606...13,357,903 		JBrowse link
G Ppargc1a PPARG coactivator 1 alpha ISO mRNA:decreased expression:cerebellum (rat) RGD PMID:20515651 RGD:10059677 NCBI chrNW_004624755:7,826,219...8,460,746
Ensembl chrNW_004624755:8,375,596...8,465,297 		JBrowse link
G Runx2 RUNX family transcription factor 2 ISO MouseDO NCBI chrNW_004624754:14,601,574...14,868,469
Ensembl chrNW_004624754:14,679,974...14,867,729 		JBrowse link
G Slc26a4 solute carrier family 26 member 4 ISO ClinVar Annotator: match by term: Congenital hypothyroidism ClinVar NCBI chrNW_004624739:22,047,771...22,100,130
Ensembl chrNW_004624739:22,047,704...22,100,154 		JBrowse link
G Slc26a7 solute carrier family 26 member 7 ISO ClinVar Annotator: match by term: Congenital hypothyroidism ClinVar PMID:31372509 NCBI chrNW_004624744:600,137...750,505
Ensembl chrNW_004624744:603,123...750,121 		JBrowse link
G Slc5a5 solute carrier family 5 member 5 ISO ClinVar Annotator: match by term: Congenital hypothyroidism ClinVar PMID:3998954 PMID:10487695 PMID:28492532 PMID:30240412 PMID:33692749 NCBI chrNW_004624908:1,401,812...1,410,471
Ensembl chrNW_004624908:1,401,829...1,409,538 		JBrowse link
G Tg thyroglobulin ISO ClinVar Annotator: match by term: Congenital hypothyroidism ClinVar PMID:2584351 PMID:7593451 PMID:8325944 PMID:9588493 PMID:10404833 More... NCBI chrNW_004624735:22,864,373...23,083,457
Ensembl chrNW_004624735:22,862,443...23,083,475 		JBrowse link
G Tpo thyroid peroxidase ISO ClinVar Annotator: match by term: Congenital hypothyroidism ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004624846:1,934,084...1,962,637
Ensembl chrNW_004624846:1,934,469...1,961,291 		JBrowse link
G Trhr thyrotropin releasing hormone receptor ISO MouseDO NCBI chrNW_004624763:8,191,550...8,255,274
Ensembl chrNW_004624763:8,192,356...8,258,958 		JBrowse link
G Tshb thyroid stimulating hormone subunit beta ISO ClinVar Annotator: match by term: Congenital hypothyroidism ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004624772:10,732,527...10,742,575
Ensembl chrNW_004624772:10,737,464...10,742,555 		JBrowse link
G Tshr thyroid stimulating hormone receptor ISO ClinVar Annotator: match by term: Congenital hypothyroidism ClinVar PMID:11442002 PMID:15693879 PMID:16756469 PMID:17526952 PMID:19158199 More... NCBI chrNW_004624734:20,880,438...21,050,756
Ensembl chrNW_004624734:20,882,154...21,050,626 		JBrowse link
G Tubb1 tubulin beta 1 class VI ISO ClinVar Annotator: match by term: Congenital hypothyroidism ClinVar PMID:25741868 PMID:28492532 PMID:28983057 PMID:30446499 PMID:32757236 More... NCBI chrNW_004624741:25,310,974...25,320,033
Ensembl chrNW_004624741:25,310,933...25,318,142 		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:8964822 PMID:9385128 PMID:10037069 PMID:12050212 More... NCBI chrNW_004624734:21,073,758...21,594,080
Ensembl chrNW_004624734:21,073,758...21,506,417 		JBrowse link
G Igsf1 immunoglobulin superfamily member 1 ISO ClinVar Annotator: match by term: TSH RESISTANCE ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004624797:10,780,294...10,795,750
Ensembl chrNW_004624797:10,780,306...10,795,724 		JBrowse link
G Tpo thyroid peroxidase ISO ClinVar Annotator: match by term: TSH RESISTANCE ClinVar PMID:25741868 NCBI chrNW_004624846:1,934,084...1,962,637
Ensembl chrNW_004624846:1,934,469...1,961,291 		JBrowse link
G Tshr thyroid stimulating hormone receptor treatment ISO ClinVar Annotator: match by term: HYPOTHYROIDISM DUE TO UNRESPONSIVENESS TO THYROTROPIN | ClinVar Annotator: match by term: HYPOTHYROIDISM, CONGENITAL, DUE TO TSH RESISTANCE | ClinVar Annotator: match by term: TSH RESISTANCE RGD
ClinVar		 PMID:1955520 PMID:7528344 PMID:8681963 PMID:8954020 PMID:8964822 More... RGD:150521601 NCBI chrNW_004624734:20,880,438...21,050,756
Ensembl chrNW_004624734:20,882,154...21,050,626 		JBrowse link
congenital nongoitrous hypothyroidism 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cep128 centrosomal protein 128 ISO ClinVar Annotator: match by term: Hypothyroidism, congenital, nongoitrous, 1 ClinVar PMID:1955520 PMID:8964822 PMID:9385128 PMID:10037069 PMID:12050212 More... NCBI chrNW_004624734:21,073,758...21,594,080
Ensembl chrNW_004624734:21,073,758...21,506,417 		JBrowse link
G Igsf1 immunoglobulin superfamily member 1 ISO ClinVar Annotator: match by term: Hypothyroidism, congenital, nongoitrous, 1 ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004624797:10,780,294...10,795,750
Ensembl chrNW_004624797:10,780,306...10,795,724 		JBrowse link
G Tpo thyroid peroxidase ISO ClinVar Annotator: match by term: Hypothyroidism, congenital, nongoitrous, 1 ClinVar PMID:25741868 NCBI chrNW_004624846:1,934,084...1,962,637
Ensembl chrNW_004624846:1,934,469...1,961,291 		JBrowse link
G Tshr thyroid stimulating hormone receptor ISO ClinVar Annotator: match by term: HYPOTHYROIDISM, NONAUTOIMMUNE | ClinVar Annotator: match by term: Hypothyroidism, congenital, nongoitrous, 1 ClinVar PMID:1955520 PMID:7528344 PMID:8681963 PMID:8954020 PMID:8964822 More... NCBI chrNW_004624734:20,880,438...21,050,756
Ensembl chrNW_004624734:20,882,154...21,050,626 		JBrowse link
congenital nongoitrous hypothyroidism 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fbxo31 F-box protein 31 ISO ClinVar Annotator: match by term: Ectopic thyroid ClinVar PMID:32989326 PMID:33675180 NCBI chrNW_004624746:3,034,458...3,078,230
Ensembl chrNW_004624746:3,043,600...3,078,223 		JBrowse link
G Pax8 paired box 8 ISO ClinVar Annotator: match by term: Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia | ClinVar Annotator: match by term: Hypothyroidism, congenital, nongoitrous, 2 OMIM
ClinVar		 PMID:9382140 PMID:9523167 PMID:9590296 PMID:11232006 PMID:11502839 More... NCBI chrNW_004624749:13,291,880...13,358,066
Ensembl chrNW_004624749:13,300,606...13,357,903 		JBrowse link
G Ttf1 transcription termination factor 1 ISO ClinVar Annotator: match by term: Hypothyroidism, congenital, nongoitrous, 2 ClinVar PMID:25741868 NCBI chrNW_004624760:3,893,665...3,918,237 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 OMIM
ClinVar		 PMID:1971148 PMID:2792087 PMID:8636437 PMID:9536098 PMID:9589689 More... NCBI chrNW_004624772:10,732,527...10,742,575
Ensembl chrNW_004624772:10,737,464...10,742,555 		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:12074273 PMID:12798584 More... NCBI chrNW_004624733:16,881,189...16,884,245
Ensembl chrNW_004624733:16,881,191...16,884,210 		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 chrNW_004624795:3,102,424...3,109,497
Ensembl chrNW_004624795:3,102,439...3,109,497 		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:24969835 PMID:25326635 More... NCBI chrNW_004624795:3,109,663...3,132,494
Ensembl chrNW_004624795:3,108,854...3,132,464 		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 chrNW_004624763:8,191,550...8,255,274
Ensembl chrNW_004624763:8,192,356...8,258,958 		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 chrNW_004624834:7,086,348...7,281,974 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 OMIM
ClinVar		 PMID:25741868 PMID:30061370 NCBI chrNW_004624803:7,476,840...7,493,109
Ensembl chrNW_004624803:7,477,142...7,480,930 		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 susceptibility ISO ClinVar Annotator: match by term: DE SANCTIS-CACCHIONE SYNDROME ClinVar
OMIM		 PMID:887325 PMID:1339317 PMID:7063265 PMID:9150142 PMID:9443879 More... NCBI chrNW_004624928:458,651...532,201
Ensembl chrNW_004624928:463,279...530,115 		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 syndrome | ClinVar Annotator: match by term: MICROMELIC DWARFISM WITH VERTEBRAL AND METAPHYSEAL ABNORMALITIES AND ADVANCED CARPOTARSAL OSSIFICATION ClinVar PMID:19853239 PMID:25741868 PMID:28492532 NCBI chrNW_004624801:8,326,928...8,341,231
Ensembl chrNW_004624801:8,326,220...8,341,240 		JBrowse link
G Xylt1 xylosyltransferase 1 ISO ClinVar Annotator: match by term: MICROMELIC DWARFISM WITH VERTEBRAL AND METAPHYSEAL ABNORMALITIES AND ADVANCED CARPOTARSAL OSSIFICATION ClinVar PMID:24581741 PMID:25741868 PMID:28085539 PMID:28492532 NCBI chrNW_004624782:1,462,888...1,763,267
Ensembl chrNW_004624782:1,462,916...1,757,206 		JBrowse link
Desbuquois Dysplasia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc1 ATP binding cassette subfamily C member 1 (ABCC1 blood group) ISO ClinVar Annotator: match by term: Desbuquois dysplasia 1 ClinVar PMID:24581741 PMID:26601923 PMID:28492532 PMID:30554721 NCBI chrNW_004624782:449,217...590,306
Ensembl chrNW_004624782:449,288...591,310 		JBrowse link
G Abcc6 ATP binding cassette subfamily C member 6 ISO ClinVar Annotator: match by term: Desbuquois dysplasia 1 ClinVar PMID:24581741 PMID:26601923 PMID:28492532 PMID:30554721 NCBI chrNW_004624782:590,174...640,576
Ensembl chrNW_004624782:594,511...640,180 		JBrowse link
G Cant1 calcium activated nucleotidase 1 ISO ClinVar Annotator: match by term: Desbuquois dysplasia 1 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:19853239 PMID:20358597 PMID:20358610 More... NCBI chrNW_004624801:8,326,928...8,341,231
Ensembl chrNW_004624801:8,326,220...8,341,240 		JBrowse link
G Cep20 centrosomal protein 20 ISO ClinVar Annotator: match by term: Desbuquois dysplasia 1 ClinVar PMID:24581741 PMID:26601923 PMID:28492532 PMID:30554721 NCBI chrNW_004624782:378,772...432,863
Ensembl chrNW_004624782:376,018...397,751 		JBrowse link
G Myh11 myosin heavy chain 11 ISO ClinVar Annotator: match by term: Desbuquois dysplasia 1 ClinVar PMID:24581741 PMID:26601923 PMID:28492532 PMID:30554721 NCBI chrNW_004624782:270,183...373,711
Ensembl chrNW_004624782:270,731...354,838 		JBrowse link
G Nde1 nudE neurodevelopment protein 1 ISO ClinVar Annotator: match by term: Desbuquois dysplasia 1 ClinVar PMID:24581741 PMID:26601923 PMID:28492532 PMID:30554721 NCBI chrNW_004624782:236,715...284,200
Ensembl chrNW_004624782:236,735...268,516 		JBrowse link
G Xylt1 xylosyltransferase 1 ISO ClinVar Annotator: match by term: Desbuquois dysplasia 1 ClinVar PMID:9536098 PMID:16376579 PMID:16571645 PMID:17576681 PMID:24581741 More... NCBI chrNW_004624782:1,462,888...1,763,267
Ensembl chrNW_004624782:1,462,916...1,757,206 		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: Baratela-Scott syndrome | ClinVar Annotator: match by term: Desbuquois dysplasia 2 OMIM
ClinVar		 PMID:16571645 PMID:22711505 PMID:23982343 PMID:24581741 PMID:25741868 More... NCBI chrNW_004624782:1,462,888...1,763,267
Ensembl chrNW_004624782:1,462,916...1,757,206 		JBrowse link
Diabetes, Deafness, Developmental Delay, and Short Stature Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Manf mesencephalic astrocyte derived neurotrophic factor ISO ClinVar Annotator: match by term: Diabetes, deafness, developmental delay, and short stature syndrome OMIM
ClinVar		 PMID:26077850 PMID:33500254 NCBI chrNW_004624730:5,165,169...5,168,240
Ensembl chrNW_004624730:5,165,200...5,168,240 		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 | ClinVar Annotator: match by term: Sulfate transporter-related osteochondrodysplasia OMIM
ClinVar		 PMID:702237 PMID:4644462 PMID:7695699 PMID:7923357 PMID:8218237 More... NCBI chrNW_004624774:9,258,057...9,273,722
Ensembl chrNW_004624774:9,257,682...9,269,753 		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 term: Diastrophic dysplasia, broad bone-platyspondylic variant ClinVar PMID:702237 PMID:8723083 PMID:10466420 PMID:12220459 PMID:20301524 NCBI chrNW_004624774:9,258,057...9,273,722
Ensembl chrNW_004624774:9,257,682...9,269,753 		JBrowse link
diphthamide deficiency syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dph1 diphthamide biosynthesis 1 ISO ClinVar Annotator: match by term: Developmental delay with short stature, dysmorphic facial features, and sparse hair ClinVar PMID:14744934 PMID:24895408 PMID:25558065 PMID:25741868 PMID:26220823 More... NCBI chrNW_004624786:4,706,595...4,716,743
Ensembl chrNW_004624786:4,706,592...4,720,405 		JBrowse link
G Dph2 diphthamide biosynthesis 2 ISO ClinVar Annotator: match by term: diphthamide-deficiency syndrome ClinVar PMID:25741868 PMID:27421267 PMID:32576952 NCBI chrNW_004624892:3,251,243...3,254,706
Ensembl chrNW_004624892:3,251,270...3,254,464 		JBrowse link
diphthamide deficiency syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dph1 diphthamide biosynthesis 1 ISO ClinVar Annotator: match by term: Developmental delay with short stature, dysmorphic facial features, and sparse hair 1 | ClinVar Annotator: match by term: Developmental delay with short stature, dysmorphic features, and sparse hair OMIM
ClinVar		 PMID:25558065 PMID:25741868 PMID:29565416 PMID:30877278 PMID:32732226 More... NCBI chrNW_004624786:4,706,595...4,716,743
Ensembl chrNW_004624786:4,706,592...4,720,405 		JBrowse link
diphthamide deficiency syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dph2 diphthamide biosynthesis 2 ISO ClinVar Annotator: match by term: Developmental delay with short stature, dysmorphic facial features, and sparse hair 2 ClinVar
OMIM		 PMID:25741868 PMID:27421267 PMID:32576952 NCBI chrNW_004624892:3,251,243...3,254,706
Ensembl chrNW_004624892:3,251,270...3,254,464 		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 OMIM
ClinVar		 PMID:12161821 PMID:12491225 PMID:12554689 PMID:16097008 PMID:16199547 More... NCBI chrNW_004624778:12,541,566...12,977,319
Ensembl chrNW_004624778:12,541,566...12,977,314 		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 OMIM
ClinVar		 PMID:24033266 PMID:25152456 PMID:25741868 PMID:28492532 NCBI chrNW_004624763:18,784,815...18,916,358
Ensembl chrNW_004624763:18,784,187...18,916,358 		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:16199547 PMID:16322276 PMID:18765513 PMID:20972728 More... NCBI chrNW_004624731:14,121,855...14,139,344
Ensembl chrNW_004624731:14,122,608...14,138,121 		JBrowse link
G Slc5a5 solute carrier family 5 member 5 ISO ClinVar Annotator: match by term: Thyroid Hormonogenesis Defect ClinVar NCBI chrNW_004624908:1,401,812...1,410,471
Ensembl chrNW_004624908:1,401,829...1,409,538 		JBrowse link
G Tg thyroglobulin ISO ClinVar Annotator: match by term: Thyroid dyshormonogenesis ClinVar PMID:28492532 NCBI chrNW_004624735:22,864,373...23,083,457
Ensembl chrNW_004624735:22,862,443...23,083,475 		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 ClinVar Annotator: match by term: Fibrochondrogenesis ClinVar PMID:21035103 PMID:23922384 PMID:28492532 NCBI chrNW_004624857:5,817,472...6,176,421
Ensembl chrNW_004624857:5,817,475...6,029,107 		JBrowse link
G Col11a2 collagen type XI alpha 2 chain ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004624754:23,614,486...23,640,489
Ensembl chrNW_004624754:23,614,570...23,639,591 		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 ClinVar
OMIM		 PMID:9536098 PMID:10486316 PMID:17236192 PMID:17576681 PMID:17999364 More... NCBI chrNW_004624857:5,817,472...6,176,421
Ensembl chrNW_004624857:5,817,475...6,029,107 		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 chrNW_004624754:23,614,486...23,640,489
Ensembl chrNW_004624754:23,614,570...23,639,591 		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 term: Fibrochondrogenesis 2 OMIM
ClinVar		 PMID:9536098 PMID:10677296 PMID:15558753 PMID:15922184 PMID:17576681 More... NCBI chrNW_004624754:23,614,486...23,640,489
Ensembl chrNW_004624754:23,614,570...23,639,591 		JBrowse link
fibular hypoplasia and complex brachydactyly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ank2 ankyrin 2 ISO ClinVar Annotator: match by term: Du pan syndrome ClinVar PMID:228900 PMID:258150 NCBI chrNW_004624838:6,490,434...7,023,945
Ensembl chrNW_004624838:6,548,159...7,023,945 		JBrowse link
G Gdf5 growth differentiation factor 5 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 2B | ClinVar Annotator: match by term: Du pan syndrome OMIM
ClinVar		 PMID:12121354 PMID:16014698 PMID:16127465 PMID:17384641 PMID:18629880 More... NCBI chrNW_004624842:3,958,814...3,963,713
Ensembl chrNW_004624842:3,959,617...3,963,020 		JBrowse link
GARG-MISHRA PROGEROID SYNDROME term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tomm7 translocase of outer mitochondrial membrane 7 ISO ClinVar Annotator: match by term: Garg-Mishra progeroid syndrome ClinVar
OMIM		 PMID:36282599 PMID:36299998 NCBI chrNW_004624739:7,854,226...7,863,387
Ensembl chrNW_004624739:7,853,621...7,864,757 		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 OMIM
ClinVar		 PMID:631850 PMID:18997784 PMID:19681135 PMID:25741868 PMID:28492532 More... NCBI chrNW_004624826:8,230,545...8,250,519
Ensembl chrNW_004624826:8,230,740...8,250,918 		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 Cavin1 caveolae associated protein 1 ISO ClinVar Annotator: match by term: Growth hormone insensitivity with immune dysregulation 1, autosomal recessive ClinVar PMID:28492532 NCBI chrNW_004624795:1,624,535...1,635,409
Ensembl chrNW_004624795:1,624,373...1,634,292 		JBrowse link
G Stat3 signal transducer and activator of transcription 3 ISO ClinVar Annotator: match by term: Growth hormone insensitivity with immune dysregulation 1, autosomal recessive ClinVar PMID:28492532 NCBI chrNW_004624795:1,648,235...1,680,788
Ensembl chrNW_004624795:1,648,080...1,681,200 		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, AND FACIAL DYSMORPHISM | ClinVar Annotator: match by term: Growth retardation, developmental delay, coarse facies, and early death ClinVar
OMIM		 PMID:19559399 PMID:19833892 PMID:20299471 PMID:23505181 PMID:23825611 More... NCBI chrNW_004624757:2,675,810...3,081,751
Ensembl chrNW_004624757:2,675,671...3,080,480 		JBrowse link
G Rpgrip1l RPGRIP1 like ISO ClinVar Annotator: match by term: Growth retardation, developmental delay, coarse facies, and early death ClinVar PMID:28492532 NCBI chrNW_004624757:3,080,162...3,172,750
Ensembl chrNW_004624757:3,079,712...3,172,115 		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 OMIM
ClinVar		 PMID:1908846 PMID:4697848 PMID:7647778 PMID:7649548 PMID:7670477 More... NCBI chrNW_004624755:25,633,690...25,647,361
Ensembl chrNW_004624755:25,635,165...25,646,932 		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: GROWTH HORMONE DEFICIENCY, ISOLATED PARTIAL | ClinVar Annotator: match by term: Growth hormone, insensitivity to, partial | ClinVar Annotator: match by term: Short stature, idiopathic, autosomal OMIM
ClinVar		 PMID:7565946 PMID:8504296 PMID:9140387 PMID:9360502 PMID:9814495 More... NCBI chrNW_004624759:12,282,295...12,570,106
Ensembl chrNW_004624759:12,285,594...12,570,906 		JBrowse link
G Ghsr growth hormone secretagogue receptor ISO ClinVar Annotator: match by term: Short stature, idiopathic, autosomal ClinVar NCBI chrNW_004624730:50,484,763...50,492,443
Ensembl chrNW_004624730:50,488,887...50,492,405 		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 chrNW_004624913:460,862...464,457
Ensembl chrNW_004624913:458,844...465,193 		JBrowse link
G Spag17 sperm associated antigen 17 ISO DNA:snp:enhancer:C>G (rs17038182) (human) RGD PMID:19893584 RGD:11535959 NCBI chrNW_004624772:13,626,247...13,836,442
Ensembl chrNW_004624772:13,636,625...13,836,466 		JBrowse link
intellectual developmental disorder with abnormal behavior, microcephaly, and short stature term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pus7 pseudouridine synthase 7 ISO ClinVar Annotator: match by term: Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:30526862 PMID:30778726 PMID:35144859 NCBI chrNW_004624739:24,043,553...24,097,857
Ensembl chrNW_004624739:24,043,483...24,100,359 		JBrowse link
INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE, FACIAL ANOMALIES, AND SPEECH DEFECTS term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fbxl3 F-box and leucine rich repeat protein 3 ISO ClinVar Annotator: match by term: Intellectual disability, short stature, facial anomalies, and joint dislocations OMIM
ClinVar		 PMID:11477608 PMID:25741868 PMID:30481285 NCBI chrNW_004624751:23,374,622...23,391,535
Ensembl chrNW_004624751:23,374,702...23,398,727 		JBrowse link
isolated growth hormone deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adnp activity dependent neuroprotector homeobox ISO ClinVar Annotator: match by term: Growth hormone deficiency ClinVar PMID:24531329 PMID:25741868 PMID:27031564 PMID:28135719 PMID:28221363 More... NCBI chrNW_004624790:4,822,467...4,854,852
Ensembl chrNW_004624790:4,832,494...4,854,845 		JBrowse link
G Ghr growth hormone receptor ISO Laron syndrome,OMIM:262500;DNA:deletion RGD PMID:2813379 RGD:1601315 NCBI chrNW_004624759:12,282,295...12,570,106
Ensembl chrNW_004624759:12,285,594...12,570,906 		JBrowse link
G Ghrhr growth hormone releasing hormone receptor ISO ClinVar Annotator: match by term: Isolated congenital growth hormone deficiency ClinVar NCBI chrNW_004624783:200,935...214,453
Ensembl chrNW_004624783:200,940...214,373 		JBrowse link
G Ghsr growth hormone secretagogue receptor ISO mRNA:increased expression:pituitary: RGD PMID:9822798 RGD:12904721 NCBI chrNW_004624730:50,484,763...50,492,443
Ensembl chrNW_004624730:50,488,887...50,492,405 		JBrowse link
G Hpca hippocalcin ISO protein:altered expression:cerebral cortex, cerebellum, hippocampus (mouse) RGD PMID:7882001 RGD:9693682 NCBI chrNW_004624764:15,990,910...15,999,617
Ensembl chrNW_004624764:15,990,729...15,999,615 		JBrowse link
G Igfals insulin like growth factor binding protein acid labile subunit ISO protein:decreased expression:serum RGD PMID:11248743 RGD:12910859 NCBI chrNW_004624913:460,862...464,457
Ensembl chrNW_004624913:458,844...465,193 		JBrowse link
G Pou1f1 POU class 1 homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9392392 NCBI chrNW_004624789:3,589,863...3,605,655
Ensembl chrNW_004624789:3,592,214...3,605,537 		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 chrNW_004624857:6,565,698...6,630,612
Ensembl chrNW_004624857:6,565,799...6,598,514 		JBrowse link
G Tg thyroglobulin ISO RGD PMID:3366187 PMID:11089535 RGD:12880373 RGD:730133 NCBI chrNW_004624735:22,864,373...23,083,457
Ensembl chrNW_004624735:22,862,443...23,083,475 		JBrowse link
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 chrNW_004624776:5,497,552...5,573,465
Ensembl chrNW_004624776:5,497,779...5,550,993 		JBrowse link
G Cript CXXC repeat containing interactor of PDZ3 domain ISO ClinVar Annotator: match by term: Pituitary dwarfism 1 ClinVar PMID:24389050 PMID:25558065 NCBI chrNW_004624738:28,067,615...28,079,593
Ensembl chrNW_004624738:28,067,616...28,077,238 		JBrowse link
G Dna2 DNA replication helicase/nuclease 2 ISO ClinVar Annotator: match by term: Pituitary dwarfism 1 ClinVar PMID:24389050 PMID:25558065 NCBI chrNW_004624754:2,746,912...2,791,560
Ensembl chrNW_004624754:2,747,097...2,791,445 		JBrowse link
G Ghrh growth hormone releasing hormone ISO OMIM:262400 MouseDO NCBI chrNW_004625146:5,484...8,763
Ensembl chrNW_004625146:6,381...13,318 		JBrowse link
G Ghrhr growth hormone releasing hormone receptor ISO ClinVar Annotator: match by term: Isolated growth hormone deficiency type 1B ClinVar PMID:10944436 PMID:10946881 PMID:11298081 PMID:11502843 PMID:12163232 More... NCBI chrNW_004624783:200,935...214,453
Ensembl chrNW_004624783:200,940...214,373 		JBrowse link
G Poc1a POC1 centriolar protein A ISO ClinVar Annotator: match by term: Pituitary dwarfism 1 ClinVar PMID:22840364 PMID:25558065 PMID:25741868 PMID:26336158 PMID:26374189 More... NCBI chrNW_004624730:5,882,812...5,958,966
Ensembl chrNW_004624730:5,881,637...5,959,126 		JBrowse link
G Xrcc4 X-ray repair cross complementing 4 ISO ClinVar Annotator: match by term: Pituitary dwarfism 1 ClinVar PMID:24389050 PMID:25558065 PMID:25728776 PMID:25741868 PMID:26255102 NCBI chrNW_004624743:3,299,329...3,549,182
Ensembl chrNW_004624743:3,317,351...3,552,161 		JBrowse link
isolated growth hormone deficiency type IB term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ghrhr growth hormone releasing hormone receptor ISO ClinVar Annotator: match by term: DWARFISM OF SINDH | ClinVar Annotator: match by term: IGHD IB | ClinVar Annotator: match by term: Isolated growth hormone deficiency type IB OMIM
ClinVar		 PMID:8528260 PMID:9467553 PMID:9814493 PMID:10084571 PMID:10566659 More... NCBI chrNW_004624783:200,935...214,453
Ensembl chrNW_004624783:200,940...214,373 		JBrowse link
isolated growth hormone deficiency type II term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Med13 mediator complex subunit 13 ISO ClinVar Annotator: match by term: Pituitary dwarfism due to isolated growth hormone deficiency autosomal dominant ClinVar PMID:25741868 NCBI chrNW_004624871:1,886,650...1,983,165
Ensembl chrNW_004624871:1,886,688...1,980,105 		JBrowse link
isolated growth hormone deficiency type III term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Armcx1 armadillo repeat containing X-linked 1 ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chrNW_004624902:1,042,766...1,053,131 JBrowse link
G Armcx2 armadillo repeat containing X-linked 2 ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chrNW_004624902:861,362...865,926
Ensembl chrNW_004624902:863,592...865,532 		JBrowse link
G Armcx3 armadillo repeat containing X-linked 3 ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chrNW_004624902:957,669...962,015
Ensembl chrNW_004624902:957,669...962,039 		JBrowse link
G Armcx4 armadillo repeat containing X-linked 4 ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chrNW_004624902:1,075,902...1,085,596
Ensembl chrNW_004624902:1,074,925...1,084,909 		JBrowse link
G Armcx6 armadillo repeat containing X-linked 6 ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chrNW_004624902:966,797...969,992 JBrowse link
G Btk Bruton tyrosine kinase ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency OMIM
ClinVar		 PMID:1240516 PMID:2896233 PMID:3486747 PMID:4697357 PMID:7627183 More... NCBI chrNW_004624902:1,173,101...1,216,662
Ensembl chrNW_004624902:1,182,682...1,216,171 		JBrowse link
G Cenpi centromere protein I ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chrNW_004624902:1,391,144...1,500,323
Ensembl chrNW_004624814:8,820,811...8,823,072 		JBrowse link
G Cstf2 cleavage stimulation factor subunit 2 ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chrNW_004624902:1,755,308...1,780,826 JBrowse link
G Drp2 dystrophin related protein 2 ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chrNW_004624902:1,270,925...1,313,122
Ensembl chrNW_004624902:1,270,959...1,313,097 		JBrowse link
G Gla galactosidase alpha ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chrNW_004624902:1,163,360...1,173,087
Ensembl chrNW_004624902:1,163,611...1,173,177 		JBrowse link
G Hnrnph2 heterogeneous nuclear ribonucleoprotein H2 ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chrNW_004624902:1,157,747...1,163,435
Ensembl chrNW_004624902:1,157,752...1,163,281 		JBrowse link
G Nox1 NADPH oxidase 1 ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chrNW_004624902:1,741,921...1,754,932
Ensembl chrNW_004624902:1,736,704...1,755,504 		JBrowse link
G Pcdh19 protocadherin 19 ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chrNW_004624902:2,354,109...2,502,478
Ensembl chrNW_004624902:2,354,856...2,502,527 		JBrowse link
G Srpx2 sushi repeat containing protein X-linked 2 ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chrNW_004624902:1,944,073...1,967,106
Ensembl chrNW_004624902:1,944,019...1,964,983 		JBrowse link
G Sytl4 synaptotagmin like 4 ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chrNW_004624902:1,876,608...1,945,728
Ensembl chrNW_004624902:1,876,516...1,942,265 		JBrowse link
G Taf7l TATA-box binding protein associated factor 7 like ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chrNW_004624902:1,239,776...1,267,443
Ensembl chrNW_004624902:1,243,817...1,256,209 		JBrowse link
G Timm8a translocase of inner mitochondrial membrane 8A ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:7711734 PMID:9445504 PMID:9545398 PMID:11956200 PMID:21984432 More... NCBI chrNW_004624902:1,216,991...1,223,426 JBrowse link
G Tmem35a transmembrane protein 35A ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chrNW_004624902:1,501,186...1,513,036
Ensembl chrNW_004624902:1,500,874...1,513,127 		JBrowse link
G Tnmd tenomodulin ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chrNW_004624902:2,019,649...2,038,203
Ensembl chrNW_004624902:2,019,185...2,038,311 		JBrowse link
G Tspan6 tetraspanin 6 ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chrNW_004624902:1,977,700...1,985,004
Ensembl chrNW_004624902:1,978,467...1,986,303 		JBrowse link
G Xkrx XK related X-linked ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chrNW_004624902:1,677,588...1,694,988
Ensembl chrNW_004624902:1,678,615...1,696,820 		JBrowse link
Isolated Growth Hormone Deficiency Type V term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rnpc3 RNA binding region (RNP1, RRM) containing 3 ISO ClinVar Annotator: match by term: PITUITARY HORMONE DEFICIENCY, COMBINED OR ISOLATED, 7 OMIM
ClinVar		 PMID:24480542 PMID:25741868 PMID:29255062 PMID:32462814 PMID:33650182 NCBI chrNW_004624857:6,565,698...6,630,612
Ensembl chrNW_004624857:6,565,799...6,598,514 		JBrowse link
Isolated Growth Hormone Deficiency, Partial 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: GROWTH HORMONE DEFICIENCY, ISOLATED PARTIAL | ClinVar Annotator: match by term: Short stature due to growth hormone secretagogue receptor deficiency ClinVar PMID:7565946 PMID:8504296 PMID:9140387 PMID:9360502 PMID:9814495 More... NCBI chrNW_004624759:12,282,295...12,570,106
Ensembl chrNW_004624759:12,285,594...12,570,906 		JBrowse link
G Ghsr growth hormone secretagogue receptor ISO ClinVar Annotator: match by term: GROWTH HORMONE DEFICIENCY, ISOLATED PARTIAL | ClinVar Annotator: match by term: Short stature due to growth hormone secretagogue receptor deficiency OMIM
ClinVar		 PMID:14715843 PMID:16511605 PMID:17596538 PMID:17717076 PMID:19789204 More... NCBI chrNW_004624730:50,484,763...50,492,443
Ensembl chrNW_004624730:50,488,887...50,492,405 		JBrowse link
JOINT LAXITY, SHORT STATURE, AND MYOPIA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gzf1 GDNF inducible zinc finger protein 1 ISO ClinVar Annotator: match by term: GZF1-related condition | ClinVar Annotator: match by term: Joint laxity, short stature, and myopia OMIM
ClinVar		 PMID:25741868 PMID:28475863 PMID:28492532 PMID:35802133 PMID:36633841 NCBI chrNW_004624741:23,035,592...23,044,071
Ensembl chrNW_004624741:23,035,577...23,046,188 		JBrowse link
Juberg Hayward Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Esco2 establishment of sister chromatid cohesion N-acetyltransferase 2 ISO ClinVar Annotator: match by term: Juberg-Hayward syndrome OMIM
ClinVar		 PMID:18414213 PMID:20301332 PMID:25741868 PMID:28492532 PMID:32255174 More... NCBI chrNW_004624758:22,578,565...22,600,731
Ensembl chrNW_004624758:22,578,528...22,600,804 		JBrowse link
G Flna filamin A ISO ClinVar Annotator: match by term: Cranio-oro-digital syndrome | ClinVar Annotator: match by term: Juberg-Hayward syndrome ClinVar PMID:3265608 PMID:6019437 PMID:9071288 PMID:9536098 PMID:10982489 More... NCBI chrNW_004624946:812,278...836,307
Ensembl chrNW_004624946:812,287...837,273 		JBrowse link
G Hcfc1 host cell factor C1 ISO ClinVar Annotator: match by term: Cranio-oro-digital syndrome ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chrNW_004624946:571,776...591,543
Ensembl chrNW_004624946:571,774...590,247 		JBrowse link
G Irak1 interleukin 1 receptor associated kinase 1 ISO ClinVar Annotator: match by term: Cranio-oro-digital syndrome ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chrNW_004624946:613,392...618,459
Ensembl chrNW_004624946:613,890...618,445 		JBrowse link
G Mecp2 methyl-CpG binding protein 2 ISO ClinVar Annotator: match by term: Cranio-oro-digital syndrome ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chrNW_004624946:620,581...685,339
Ensembl chrNW_004624946:628,284...685,246 		JBrowse link
G Naa10 N-alpha-acetyltransferase 10, NatA catalytic subunit ISO ClinVar Annotator: match by term: Cranio-oro-digital syndrome ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chrNW_004624946:560,924...570,340
Ensembl chrNW_004624946:559,710...570,372
Ensembl chrNW_004624946:559,710...570,372 		JBrowse link
G Tex28 testis expressed 28 ISO ClinVar Annotator: match by term: Cranio-oro-digital syndrome ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chrNW_004624946:718,330...748,957 JBrowse link
G Tktl1 transketolase like 1 ISO ClinVar Annotator: match by term: Cranio-oro-digital syndrome ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chrNW_004624946:760,078...775,073 JBrowse link
Kenny-Caffey syndrome type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fam111a FAM111 trypsin like peptidase A ISO ClinVar Annotator: match by term: Autosomal dominant Kenny-Caffey syndrome OMIM
ClinVar		 PMID:23684011 PMID:23996431 PMID:24635597 PMID:24970356 PMID:25741868 More... NCBI chrNW_004624864:1,518,454...1,532,126
Ensembl chrNW_004624864:1,521,966...1,525,962 		JBrowse link
G Tbce tubulin folding cofactor E ISO CTD Direct Evidence: marker/mechanism CTD PMID:12389028 NCBI chrNW_004624775:15,067,044...15,132,690
Ensembl chrNW_004624775:15,067,044...15,133,008 		JBrowse link
Kniest dysplasia 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: Kniest dysplasia OMIM
ClinVar		 PMID:4014370 PMID:4214536 PMID:7695699 PMID:7700721 PMID:7849719 More... NCBI chrNW_004624816:4,273,969...4,304,519
Ensembl chrNW_004624816:4,274,219...4,304,513 		JBrowse link
Laron syndrome 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: Laron dwarfism | ClinVar Annotator: match by term: Laron syndrome with elevated serum GH-binding protein | ClinVar Annotator: match by term: Laron syndrome with undetectable serum GH-binding protein | ClinVar Annotator: match by term: Laron-type isolated somatotropin defect OMIM
ClinVar		 PMID:1284474 PMID:1719554 PMID:1999489 PMID:2233903 PMID:2779634 More... NCBI chrNW_004624759:12,282,295...12,570,106
Ensembl chrNW_004624759:12,285,594...12,570,906 		JBrowse link
G Igf1 insulin like growth factor 1 ISO protein:decreased expression:serum: RGD PMID:21054577 RGD:8549489 NCBI chrNW_004624750:5,881,065...5,954,799
Ensembl chrNW_004624750:5,881,091...5,952,300 		JBrowse link
metatropic dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trpv4 transient receptor potential cation channel subfamily V member 4 ISO ClinVar Annotator: match by term: Metatropic dwarfism | ClinVar Annotator: match by term: Metatropic dysplasia OMIM
ClinVar		 PMID:4056805 PMID:6628444 PMID:8179305 PMID:14755468 PMID:17879966 More... NCBI chrNW_004624747:10,675,625...10,685,351 JBrowse link
Microcephalic Osteodysplastic Primordial Dwarfism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pcnt pericentrin ISO ClinVar Annotator: match by term: Microcephalic osteodysplastic primordial dwarfism ClinVar PMID:18414213 PMID:25741868 PMID:28492532 NCBI chrNW_004624745:31,402,791...31,516,522
Ensembl chrNW_004624745:31,403,014...31,515,751 		JBrowse link
microcephalic osteodysplastic primordial dwarfism type I term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clasp1 cytoplasmic linker associated protein 1 ISO ClinVar Annotator: match by term: Low-birth-weight dwarfism with skeletal dysplasia | ClinVar Annotator: match by term: Microcephalic Osteodysplastic Primordial Dwarfism, Type I | ClinVar Annotator: match by term: Osteodysplastic primordial dwarfism, type 1 ClinVar PMID:10189087 PMID:12409455 PMID:12605445 PMID:21474760 PMID:21474761 More... NCBI chrNW_004624732:23,553,876...23,814,565
Ensembl chrNW_004624732:23,581,356...23,811,640 		JBrowse link
G Pkp2 plakophilin 2 ISO ClinVar Annotator: match by term: Microcephalic Osteodysplastic Primordial Dwarfism, Type I ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chrNW_004624778:3,261,446...3,344,204
Ensembl chrNW_004624778:3,261,390...3,342,850 		JBrowse link
microcephalic osteodysplastic primordial dwarfism type II term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pcnt pericentrin ISO ClinVar Annotator: match by term: Microcephalic osteodysplastic primordial dwarfism type II | ClinVar Annotator: match by term: PCNT-related condition OMIM
ClinVar		 PMID:9536098 PMID:12210304 PMID:15372530 PMID:16199547 PMID:17576681 More... NCBI chrNW_004624745:31,402,791...31,516,522
Ensembl chrNW_004624745:31,403,014...31,515,751 		JBrowse link
Microcephaly, Short Stature, and Impaired Glucose Metabolism 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trmt10a tRNA methyltransferase 10A ISO ClinVar Annotator: match by term: Microcephaly, short stature, and impaired glucose metabolism 1 OMIM
ClinVar		 PMID:24204302 PMID:25053765 PMID:25741868 PMID:26535115 PMID:28492532 More... NCBI chrNW_004624830:7,515,810...7,529,980
Ensembl chrNW_004624830:7,519,851...7,530,772 		JBrowse link
Microcephaly, Short Stature, and Impaired Glucose Metabolism 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ppp1r15b protein phosphatase 1 regulatory subunit 15B ISO ClinVar Annotator: match by term: Microcephaly, short stature, and impaired glucose metabolism 2 OMIM
ClinVar		 PMID:25741868 PMID:26159176 PMID:26307080 PMID:28492532 NCBI chrNW_004624807:6,622,816...6,631,027
Ensembl chrNW_004624807:6,623,245...6,633,334 		JBrowse link
Microcephaly, Short Stature, and Polymicrogyria with or without Seizures term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rttn rotatin ISO ClinVar Annotator: match by term: MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH SEIZURES | ClinVar Annotator: match by term: Microcephaly, short stature, and polymicrogyria with or without seizures | ClinVar Annotator: match by term: RTTN-related condition OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:22939636 More... NCBI chrNW_004624806:11,058,138...11,266,639
Ensembl chrNW_004624806:11,058,880...11,266,289 		JBrowse link
Mosaic Variegated Aneuploidy Syndrome 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Smc5 structural maintenance of chromosomes 5 ISO ClinVar Annotator: match by term: Atelis syndrome 2 OMIM
ClinVar		 PMID:36333305 NCBI chrNW_004624736:2,697,764...2,803,501
Ensembl chrNW_004624736:2,700,161...2,803,439 		JBrowse link
mulibrey nanism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pnpla7 patatin like phospholipase domain containing 7 ISO ClinVar Annotator: match by term: Mulibrey nanism syndrome ClinVar NCBI chrNW_004624760:521,145...575,431 JBrowse link
G Ppm1e protein phosphatase, Mg2+/Mn2+ dependent 1E ISO ClinVar Annotator: match by term: Mulibrey nanism syndrome ClinVar PMID:25741868 NCBI chrNW_004624871:753,327...902,384
Ensembl chrNW_004624871:753,292...898,362 		JBrowse link
G Prr11 proline rich 11 ISO ClinVar Annotator: match by term: Mulibrey nanism syndrome ClinVar PMID:21681106 NCBI chrNW_004624871:1,049,663...1,086,751
Ensembl chrNW_004624871:1,050,049...1,085,982 		JBrowse link
G Trim37 tripartite motif containing 37 ISO ClinVar Annotator: match by term: Mulibrey nanism syndrome | ClinVar Annotator: match by term: TRIM37-related condition OMIM
ClinVar		 PMID:9536098 PMID:10888877 PMID:12754710 PMID:15108285 PMID:15885686 More... NCBI chrNW_004624871:899,931...1,049,583
Ensembl chrNW_004624871:912,140...1,021,354 		JBrowse link
G Trpm3 transient receptor potential cation channel subfamily M member 3 ISO ClinVar Annotator: match by term: Perheentupa syndrome ClinVar PMID:25741868 PMID:29539642 PMID:31278393 PMID:32343227 PMID:32439617 More... NCBI chrNW_004624736:1,972,654...2,516,053
Ensembl chrNW_004624736:1,660,831...2,514,430 		JBrowse link
neonatal diabetes mellitus with congenital hypothyroidism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Glis3 GLIS family zinc finger 3 ISO ClinVar Annotator: match by term: NDH SYNDROME | ClinVar Annotator: match by term: Neonatal diabetes mellitus with congenital hypothyroidism OMIM
ClinVar		 PMID:12966531 PMID:16715098 PMID:18263616 PMID:18414213 PMID:23856252 More... NCBI chrNW_004624736:8,552,143...9,030,122
Ensembl chrNW_004624736:8,555,916...9,004,996 		JBrowse link
neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dph5 diphthamide biosynthesis 5 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties OMIM
ClinVar		 PMID:25741868 PMID:35482014 NCBI chrNW_004624857:3,864,142...3,904,158
Ensembl chrNW_004624857:3,867,544...3,903,834 		JBrowse link
G Slc30a7 solute carrier family 30 member 7 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties ClinVar PMID:25741868 PMID:35482014 NCBI chrNW_004624857:3,757,359...3,856,431
Ensembl chrNW_004624857:3,757,751...3,854,761 		JBrowse link
Ohdo syndrome, SBBYS variant term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kat6b lysine acetyltransferase 6B ISO ClinVar Annotator: match by term: Blepharophimosis - intellectual disability syndrome, SBBYS type | ClinVar Annotator: match by term: Say-Barber-Biesecker-Young-Simpson variant of Ohdo Syndrome OMIM
ClinVar		 PMID:8055130 PMID:18798845 PMID:21344633 PMID:22077973 PMID:22265014 More... NCBI chrNW_004624754:8,204,266...8,391,328
Ensembl chrNW_004624754:8,204,943...8,392,724 		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 chrNW_004624736:6,681,491...6,863,403
Ensembl chrNW_004624736:6,695,658...6,865,809 		JBrowse link
G Ube3b ubiquitin protein ligase E3B ISO ClinVar Annotator: match by term: Blepharophimosis - intellectual disability syndrome ClinVar PMID:25741868 NCBI chrNW_004624747:10,886,965...10,951,808
Ensembl chrNW_004624747:10,887,991...10,952,217 		JBrowse link
Oliver-McFarlane syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pnpla6 patatin like phospholipase domain containing 6 ISO ClinVar Annotator: match by term: Trichomegaly-retina pigmentary degeneration-dwarfism syndrome OMIM
ClinVar		 PMID:3963113 PMID:8053762 PMID:18313024 PMID:20603202 PMID:23733235 More... NCBI chrNW_004624828:643,552...664,665
Ensembl chrNW_004624828:643,471...664,665 		JBrowse link
otospondylomegaepiphyseal dysplasia, autosomal recessive 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 term: Insley-Astley syndrome | ClinVar Annotator: match by term: Otospondylomegaepiphyseal dysplasia, autosomal recessive OMIM
ClinVar		 PMID:7859284 PMID:9188673 PMID:9536098 PMID:10677296 PMID:15558753 More... NCBI chrNW_004624754:23,614,486...23,640,489
Ensembl chrNW_004624754:23,614,570...23,639,591 		JBrowse link
G Col2a1 collagen type II alpha 1 chain ISO ClinVar Annotator: match by term: Otospondylomegaepiphyseal dysplasia, autosomal recessive ClinVar PMID:25326635 PMID:25741868 NCBI chrNW_004624816:4,273,969...4,304,519
Ensembl chrNW_004624816:4,274,219...4,304,513 		JBrowse link
parastremmatic dwarfism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trpv4 transient receptor potential cation channel subfamily V member 4 ISO ClinVar Annotator: match by term: Parastremmatic dwarfism OMIM
ClinVar		 PMID:4056805 PMID:6628444 PMID:8179305 PMID:14755468 PMID:17879966 More... NCBI chrNW_004624747:10,675,625...10,685,351 JBrowse link
Pendred syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cldn9 claudin 9 ISO ClinVar Annotator: match by term: Pendred syndrome ClinVar PMID:30311386 PMID:35802133 PMID:36633841 NCBI chrNW_004624824:757,962...759,818
Ensembl chrNW_004624824:758,662...759,315 		JBrowse link
G Diaph1 diaphanous related formin 1 ISO ClinVar Annotator: match by term: Pendred syndrome ClinVar PMID:30311386 NCBI chrNW_004624774:738,717...845,187
Ensembl chrNW_004624774:739,206...845,272 		JBrowse link
G Foxi1 forkhead box I1 ISO ClinVar Annotator: match by term: Goiter-deafness syndrome | ClinVar Annotator: match by term: Pendred syndrome ClinVar PMID:17503324 PMID:25741868 PMID:28492532 PMID:30311386 NCBI chrNW_004624733:19,860,586...19,864,522
Ensembl chrNW_004624733:19,859,972...19,864,359 		JBrowse link
G Kcnj10 potassium inwardly rectifying channel subfamily J member 10 ISO ClinVar Annotator: match by term: Goiter-deafness syndrome | ClinVar Annotator: match by term: Pendred syndrome ClinVar PMID:19289823 PMID:20651251 PMID:20678478 PMID:20807765 PMID:21088294 More... NCBI chrNW_004624794:1,180,822...1,211,781
Ensembl chrNW_004624794:1,180,834...1,212,456 		JBrowse link
G Myo7a myosin VIIA ISO ClinVar Annotator: match by term: Pendred syndrome ClinVar PMID:24033266 PMID:28492532 PMID:30311386 PMID:30718709 NCBI chrNW_004624863:205,468...283,840
Ensembl chrNW_004624863:205,478...283,839 		JBrowse link
G Otof otoferlin ISO ClinVar Annotator: match by term: Pendred syndrome ClinVar PMID:30311386 NCBI chrNW_004624738:8,599,815...8,690,382
Ensembl chrNW_004624738:8,599,544...8,690,412 		JBrowse link
G Slc26a4 solute carrier family 26 member 4 ISO ClinVar Annotator: match by term: Goiter-deafness syndrome | ClinVar Annotator: match by term: HYPOTHYROIDISM, CONGENITAL, DUE TO DYSHORMONOGENESIS, 2B | ClinVar Annotator: match by term: Pendred syndrome | ClinVar Annotator: match by term: SLC26A4-related condition OMIM
ClinVar		 PMID:1920407 PMID:2422447 PMID:8285825 PMID:8541853 PMID:8630498 More... NCBI chrNW_004624739:22,047,771...22,100,130
Ensembl chrNW_004624739:22,047,704...22,100,154 		JBrowse link
PRIMORDIAL DWARFISM-IMMUNODEFICIENCY-LIPODYSTROPHY SYNDROME term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prim1 DNA primase subunit 1 ISO ClinVar Annotator: match by term: Primordial dwarfism-immunodeficiency-lipodystrophy syndrome ClinVar
OMIM		 PMID:33060134 NCBI chrNW_004624802:11,288,654...11,312,401
Ensembl chrNW_004624802:11,289,391...11,316,958 		JBrowse link
pseudoachondroplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Comp cartilage oligomeric matrix protein ISO ClinVar Annotator: match by term: Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome OMIM
ClinVar		 PMID:7670471 PMID:7670472 PMID:9463320 PMID:9632164 PMID:9756911 More... NCBI chrNW_004624908:1,870,975...1,877,434
Ensembl chrNW_004624908:1,871,002...1,877,369 		JBrowse link
rapadilino syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Recql4 RecQ like helicase 4 ISO ClinVar Annotator: match by term: Radial and patellar hypoplasia | ClinVar Annotator: match by term: Rapadilino syndrome OMIM
ClinVar		 PMID:9878247 PMID:10319867 PMID:10678659 PMID:12734318 PMID:12838562 More... NCBI chrNW_004624735:12,345,326...12,351,783
Ensembl chrNW_004624735:12,345,844...12,351,637 		JBrowse link
Robinow syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnaaf4 dynein axonemal assembly factor 4 ISO MouseDO NCBI chrNW_004624731:6,215,798...6,270,210
Ensembl chrNW_004624731:6,215,737...6,241,793 		JBrowse link
G Dvl1 dishevelled segment polarity protein 1 ISO ClinVar Annotator: match by term: Acral dysostosis with facial and genital abnormalities ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004624818:8,267,111...8,283,755
Ensembl chrNW_004624818:8,267,128...8,278,725 		JBrowse link
G Dvl3 dishevelled segment polarity protein 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004624730:72,396,437...72,412,260
Ensembl chrNW_004624730:72,396,343...72,413,175 		JBrowse link
G Wnt5a Wnt family member 5A ISO ClinVar Annotator: match by term: Acral dysostosis with facial and genital abnormalities ClinVar PMID:18414213 PMID:25741868 PMID:28492532 NCBI chrNW_004624822:1,824,378...1,843,599
Ensembl chrNW_004624822:1,825,238...1,841,288 		JBrowse link
SADDAN 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: SADDAN dysplasia | ClinVar Annotator: match by term: Severe achondroplasia with developmental delay and acanthosis nigricans OMIM
ClinVar		 PMID:1908846 PMID:7647778 PMID:7649548 PMID:7670477 PMID:7702086 More... NCBI chrNW_004624755:25,633,690...25,647,361
Ensembl chrNW_004624755:25,635,165...25,646,932 		JBrowse link
Seckel syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atr ATR serine/threonine kinase susceptibility ISO ClinVar Annotator: match by term: ATR-related condition | ClinVar Annotator: match by term: Seckel syndrome 1
DNA:point mutation:2101A>G (human)		 OMIM
ClinVar
RGD		 PMID:9536098 PMID:10691732 PMID:11721054 PMID:12640452 PMID:15987455 More... RGD:1599404 NCBI chrNW_004624730:19,022,012...19,145,474
Ensembl chrNW_004624730:19,022,070...19,145,306 		JBrowse link
G Cenpj centromere protein J ISO ClinVar Annotator: match by term: Seckel syndrome 1 ClinVar PMID:18414213 PMID:20301772 PMID:20978018 PMID:25741868 PMID:28492532 NCBI chrNW_004624776:18,163,924...18,245,303
Ensembl chrNW_004624776:18,182,349...18,244,944 		JBrowse link
G Cep152 centrosomal protein 152 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21131973 NCBI chrNW_004624731:10,899,654...10,990,143
Ensembl chrNW_004624731:10,900,371...10,990,415 		JBrowse link
G Pcnt pericentrin ISO CTD Direct Evidence: marker/mechanism CTD PMID:18157127 NCBI chrNW_004624745:31,402,791...31,516,522
Ensembl chrNW_004624745:31,403,014...31,515,751 		JBrowse link
Seckel syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pcnt pericentrin ISO CTD Direct Evidence: marker/mechanism CTD PMID:18174396 NCBI chrNW_004624745:31,402,791...31,516,522
Ensembl chrNW_004624745:31,403,014...31,515,751 		JBrowse link
G Rbbp8 RB binding protein 8, endonuclease ISO ClinVar Annotator: match by term: RBBP8-Related Disorders | ClinVar Annotator: match by term: Seckel syndrome 2 OMIM
ClinVar		 PMID:11781686 PMID:16199547 PMID:18414213 PMID:24389050 PMID:25741868 More... NCBI chrNW_004624770:9,026,592...9,100,818
Ensembl chrNW_004624770:9,023,392...9,119,183 		JBrowse link
Seckel syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cenpj centromere protein J ISO ClinVar Annotator: match by term: Seckel syndrome 4 OMIM
ClinVar		 PMID:15793586 PMID:16900296 PMID:18414213 PMID:20301772 PMID:20522431 More... NCBI chrNW_004624776:18,163,924...18,245,303
Ensembl chrNW_004624776:18,182,349...18,244,944 		JBrowse link
G Rnf17 ring finger protein 17 ISO ClinVar Annotator: match by term: Seckel syndrome 4 ClinVar PMID:18414213 PMID:20301772 PMID:20522431 PMID:24402816 PMID:25741868 More... NCBI chrNW_004624776:18,247,528...18,424,231
Ensembl chrNW_004624776:18,248,162...18,425,161 		JBrowse link
Short Limb Dwarfism Al Gazali Type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adamtsl2 ADAMTS like 2 ISO ClinVar Annotator: match by term: Lethal short-limb skeletal dysplasia, Al Gazali type ClinVar PMID:18677313 PMID:20301776 PMID:24251637 PMID:25741868 PMID:30195254 NCBI chrNW_004624760:1,948,302...1,977,459
Ensembl chrNW_004624760:1,949,907...1,976,894 		JBrowse link
Short Stature and Microcephaly with Genital Anomalies term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cenpt centromere protein T ISO ClinVar Annotator: match by term: Short stature and microcephaly with genital anomalies OMIM
ClinVar		 PMID:25741868 PMID:29228025 NCBI chrNW_004624746:18,530,574...18,538,437
Ensembl chrNW_004624746:18,532,732...18,538,326 		JBrowse link
SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cript CXXC repeat containing interactor of PDZ3 domain ISO ClinVar Annotator: match by term: Short stature with microcephaly and distinctive facies OMIM
ClinVar		 PMID:24389050 PMID:25558065 PMID:25741868 PMID:27250922 PMID:31101064 NCBI chrNW_004624738:28,067,615...28,079,593
Ensembl chrNW_004624738:28,067,616...28,077,238 		JBrowse link
G Pigf phosphatidylinositol glycan anchor biosynthesis class F ISO ClinVar Annotator: match by term: Short stature with microcephaly and distinctive facies ClinVar PMID:27250922 NCBI chrNW_004624738:28,031,839...28,069,409 JBrowse link
Short Stature with Nonspecific Skeletal Abnormalities 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: Short stature with nonspecific skeletal abnormalities OMIM
ClinVar		 PMID:15146390 PMID:15572448 PMID:16384845 PMID:22691581 PMID:24001744 More... NCBI chrNW_004624868:4,974,690...4,993,886
Ensembl chrNW_004624868:4,974,810...4,993,817 		JBrowse link
G Spag8 sperm associated antigen 8 ISO ClinVar Annotator: match by term: Short stature with nonspecific skeletal abnormalities ClinVar PMID:16384845 PMID:22691581 PMID:25741868 PMID:28492532 NCBI chrNW_004624868:4,971,510...4,974,601
Ensembl chrNW_004624868:4,972,286...4,974,442 		JBrowse link
SHORT STATURE, DAUBER-ARGENTE TYPE term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pappa2 pappalysin 2 ISO ClinVar Annotator: match by term: Short stature, Dauber-Argente type OMIM
ClinVar		 PMID:25741868 PMID:26902202 PMID:34272725 NCBI chrNW_004624771:5,332,013...5,598,678
Ensembl chrNW_004624771:5,331,793...5,596,752 		JBrowse link
Short Stature, Developmental Delay, and Congenital Heart Defects term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tkt transketolase ISO ClinVar Annotator: match by term: Transketolase deficiency OMIM
ClinVar		 PMID:25741868 PMID:27259054 PMID:28492532 NCBI chrNW_004624822:3,989,292...4,014,150
Ensembl chrNW_004624822:3,989,299...4,014,269 		JBrowse link
Short Stature, Facial Dysmorphism, and Skeletal Anomalies with or without Cardiac Anomalies term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bmp2 bone morphogenetic protein 2 ISO ClinVar Annotator: match by term: Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies ClinVar PMID:25741868 PMID:28492532 PMID:29198724 NCBI chrNW_004624741:7,706,205...7,717,677
Ensembl chrNW_004624741:7,706,236...7,719,484 		JBrowse link
Short Stature, Facial Dysmorphism, and Skeletal Anomalies with or without Cardiac Anomalies 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bmp2 bone morphogenetic protein 2 ISO ClinVar Annotator: match by term: Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1 OMIM
ClinVar		 PMID:21671386 PMID:25741868 PMID:28492532 PMID:29198724 PMID:35227291 NCBI chrNW_004624741:7,706,205...7,717,677
Ensembl chrNW_004624741:7,706,236...7,719,484 		JBrowse link
short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Scube3 signal peptide, CUB domain and EGF like domain containing 3 ISO ClinVar Annotator: match by term: Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2 OMIM
ClinVar		 PMID:25741868 PMID:33308444 NCBI chrNW_004624754:22,164,319...22,196,569
Ensembl chrNW_004624754:22,166,578...22,196,540 		JBrowse link
short stature, hearing loss, retinitis pigmentosa, and distinctive facies term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Exosc2 exosome component 2 ISO ClinVar Annotator: match by term: SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES | ClinVar Annotator: match by term: Short stature, hearing loss, retinitis pigmentosa, and distinctive facies OMIM
ClinVar		 PMID:14647208 PMID:15060126 PMID:24447024 PMID:25741868 PMID:26843489 More... NCBI chrNW_004624760:5,036,185...5,044,504
Ensembl chrNW_004624760:5,035,663...5,044,549 		JBrowse link
SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Xrcc2 X-ray repair cross complementing 2 ISO ClinVar Annotator: match by term: Short stature, microcephaly, and endocrine dysfunction ClinVar PMID:11118202 PMID:22232082 PMID:25741868 PMID:26046366 PMID:26845104 More... NCBI chrNW_004624800:4,352,566...4,389,707
Ensembl chrNW_004624800:4,355,539...4,390,016 		JBrowse link
G Xrcc4 X-ray repair cross complementing 4 ISO ClinVar Annotator: match by term: Short stature, microcephaly, and endocrine dysfunction | ClinVar Annotator: match by term: XRCC4-related condition OMIM
ClinVar		 PMID:16199547 PMID:18695064 PMID:24033266 PMID:24389050 PMID:25558065 More... NCBI chrNW_004624743:3,299,329...3,549,182
Ensembl chrNW_004624743:3,317,351...3,552,161 		JBrowse link
SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Polr3gl RNA polymerase III subunit GL ISO ClinVar Annotator: match by term: Short stature, oligodontia, dysmorphic facies, and motor delay OMIM
ClinVar		 PMID:25741868 PMID:31089205 PMID:31695177 NCBI chrNW_004624772:17,320,090...17,328,492
Ensembl chrNW_004624772:17,281,782...17,328,628 		JBrowse link
SHORT STATURE-MICROGNATHIA SYNDROME term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arcn1 archain 1 ISO ClinVar Annotator: match by term: ARCN1-related condition | ClinVar Annotator: match by term: Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay OMIM
ClinVar		 PMID:25741868 PMID:27476655 PMID:28492532 PMID:31075182 PMID:33154040 More... NCBI chrNW_004624784:13,973,631...14,011,921
Ensembl chrNW_004624784:13,973,551...14,013,693 		JBrowse link
Short-Limb Skeletal Dysplasia with Severe Combined Immunodeficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kif7 kinesin family member 7 ISO ClinVar Annotator: match by term: Short-limb skeletal dysplasia with severe combined immunodeficiency ClinVar PMID:25741868 NCBI chrNW_004624768:16,674,485...16,732,698
Ensembl chrNW_004624768:16,718,978...16,730,707 		JBrowse link
Silver-Russell syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Foxp2 forkhead box P2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17033973 NCBI chrNW_004624827:4,813,203...5,086,326
Ensembl chrNW_004624827:4,817,092...5,086,488 		JBrowse link
G Igf2 insulin like growth factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19066168 NCBI chrNW_004624767:14,969,977...14,997,577
Ensembl chrNW_004624767:14,969,866...14,979,026 		JBrowse link
Silver-Russell Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdkn1c cyclin dependent kinase inhibitor 1C ISO ClinVar Annotator: match by term: Silver-Russell syndrome 1 ClinVar PMID:24065356 PMID:24624461 PMID:28492532 PMID:31976094 PMID:33076988 NCBI chrNW_004624767:15,642,991...15,645,648
Ensembl chrNW_004624767:15,642,012...15,645,664 		JBrowse link
G Dlk1 delta like non-canonical Notch ligand 1 ISO ClinVar Annotator: match by term: Silver-Russell syndrome 1 ClinVar NCBI chrNW_004624734:3,363,084...3,372,790
Ensembl chrNW_004624734:3,363,001...3,372,694 		JBrowse link
G Hmga2 high mobility group AT-hook 2 ISO ClinVar Annotator: match by term: Silver-Russell syndrome 1 ClinVar PMID:28796236 NCBI chrNW_004624802:2,337,344...2,468,757
Ensembl chrNW_004624802:2,337,464...2,467,990 		JBrowse link
G Igf2 insulin like growth factor 2 ISO ClinVar Annotator: match by term: Silver-Russell syndrome 1 ClinVar NCBI chrNW_004624767:14,969,977...14,997,577
Ensembl chrNW_004624767:14,969,866...14,979,026 		JBrowse link
G Kcnq1 potassium voltage-gated channel subfamily Q member 1 ISO ClinVar Annotator: match by term: Silver-Russell syndrome 1 ClinVar NCBI chrNW_004624767:15,252,961...15,613,373
Ensembl chrNW_004624767:15,252,950...15,613,562 		JBrowse link
G Plag1 PLAG1 zinc finger ISO ClinVar Annotator: match by term: Silver-Russell syndrome 1 ClinVar PMID:28796236 NCBI chrNW_004624886:3,827,944...3,873,124
Ensembl chrNW_004624886:3,827,937...3,868,179 		JBrowse link
Silver-Russell Syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Igf2 insulin like growth factor 2 ISO ClinVar Annotator: match by term: IGF2-related condition | ClinVar Annotator: match by term: Silver-Russell syndrome 3 OMIM
ClinVar		 PMID:25741868 PMID:26154720 PMID:28492532 PMID:28848601 PMID:30152198 More... NCBI chrNW_004624767:14,969,977...14,997,577
Ensembl chrNW_004624767:14,969,866...14,979,026 		JBrowse link
Silver-Russell Syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Plag1 PLAG1 zinc finger ISO ClinVar Annotator: match by term: PLAG1-related condition | ClinVar Annotator: match by term: Silver-russell syndrome 4 OMIM
ClinVar		 PMID:25741868 PMID:28796236 NCBI chrNW_004624886:3,827,944...3,873,124
Ensembl chrNW_004624886:3,827,937...3,868,179 		JBrowse link
Silver-Russell Syndrome 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hmga2 high mobility group AT-hook 2 ISO ClinVar Annotator: match by term: Silver-Russell syndrome 5 OMIM
ClinVar		 PMID:25741868 PMID:25809938 PMID:28492532 PMID:28796236 PMID:29453418 NCBI chrNW_004624802:2,337,344...2,468,757
Ensembl chrNW_004624802:2,337,464...2,467,990 		JBrowse link
Silverman-Handmaker type dyssegmental dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hspg2 heparan sulfate proteoglycan 2 ISO ClinVar Annotator: match by term: Dyssegmental Dysplasia | ClinVar Annotator: match by term: Qualitative or quantitative defects of perlecan OMIM
ClinVar		 PMID:25741868 PMID:28492532 NCBI chrNW_004624764:6,639,152...6,736,161
Ensembl chrNW_004624764:6,640,087...6,708,130 		JBrowse link
SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Csgalnact1 chondroitin sulfate N-acetylgalactosaminyltransferase 1 ISO ClinVar Annotator: match by term: Skeletal dysplasia, mild, with joint laxity and advanced bone age OMIM
ClinVar		 PMID:25741868 PMID:27599773 PMID:28492532 PMID:31325655 PMID:31705726 NCBI chrNW_004624758:15,200,726...15,517,146
Ensembl chrNW_004624758:15,200,713...15,367,236 		JBrowse link
Smith-McCort dysplasia 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: Smith-McCort dysplasia ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004624778:12,541,566...12,977,319
Ensembl chrNW_004624778:12,541,566...12,977,314 		JBrowse link
G Rab33b RAB33B, member RAS oncogene family ISO ClinVar Annotator: match by term: Smith-McCort dysplasia ClinVar NCBI chrNW_004624777:19,730,784...19,744,423
Ensembl chrNW_004624777:19,730,768...19,747,292 		JBrowse link
Smith-McCort dysplasia 1 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: DYM-related condition | ClinVar Annotator: match by term: Smith-McCort dysplasia 1 ClinVar
OMIM		 PMID:12491225 PMID:16097008 PMID:18996921 PMID:19005420 PMID:25741868 More... NCBI chrNW_004624778:12,541,566...12,977,319
Ensembl chrNW_004624778:12,541,566...12,977,314 		JBrowse link
Smith-McCort dysplasia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rab33b RAB33B, member RAS oncogene family ISO ClinVar Annotator: match by term: Smith-McCort dysplasia 2 OMIM
ClinVar		 PMID:16470731 PMID:22652534 PMID:23042644 PMID:25741868 PMID:28127940 More... NCBI chrNW_004624777:19,730,784...19,744,423
Ensembl chrNW_004624777:19,730,768...19,747,292 		JBrowse link
spondylometaepiphyseal dysplasia, short limb-hand type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ddr2 discoidin domain receptor tyrosine kinase 2 ISO ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome OMIM
ClinVar		 PMID:8434618 PMID:8818447 PMID:11375938 PMID:19110212 PMID:20223752 More... NCBI chrNW_004624826:1,225,217...1,255,889
Ensembl chrNW_004624826:1,173,621...1,249,692 		JBrowse link
spondylometaphyseal dysplasia Megarbane-Dagher-Melike type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pam16 presequence translocase associated motor 16 ISO ClinVar Annotator: match by term: Spondylometaphyseal dysplasia, megarbane-dagher-melki type OMIM
ClinVar		 PMID:24786642 PMID:27354339 PMID:28492532 NCBI chrNW_004624746:18,235,774...18,237,603 JBrowse link
thanatophoric dysplasia 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: Thanatophoric dwarfism ClinVar PMID:7773297 PMID:8599935 PMID:8754806 PMID:8845844 PMID:9207791 More... NCBI chrNW_004624755:25,633,690...25,647,361
Ensembl chrNW_004624755:25,635,165...25,646,932 		JBrowse link
G Hspg2 heparan sulfate proteoglycan 2 ISO OMIM:187600 | OMIM:187601 | OMIM:273680 MouseDO NCBI chrNW_004624764:6,639,152...6,736,161
Ensembl chrNW_004624764:6,640,087...6,708,130 		JBrowse link
Thanatophoric Dysplasia, Type I 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: LETHAL SHORT-LIMBED PLATYSPONDYLIC DWARFISM, SAN DIEGO TYPE OMIM
ClinVar		 PMID:1908846 PMID:7647778 PMID:7649548 PMID:7670477 PMID:7702086 More... NCBI chrNW_004624755:25,633,690...25,647,361
Ensembl chrNW_004624755:25,635,165...25,646,932 		JBrowse link
Thanatophoric Dysplasia, Type II 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: Thanatophoric dysplasia with Kleeblattschaedel | ClinVar Annotator: match by term: Thanatophoric dysplasia, type 2 OMIM
ClinVar		 PMID:1908846 PMID:7647778 PMID:7649548 PMID:7670477 PMID:7702086 More... NCBI chrNW_004624755:25,633,690...25,647,361
Ensembl chrNW_004624755:25,635,165...25,646,932 		JBrowse link
Three M Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cul7 cullin 7 ISO ClinVar Annotator: match by term: 3M syndrome 1 | ClinVar Annotator: match by term: CUL7-related condition OMIM
ClinVar		 PMID:16142236 PMID:17675530 PMID:19225462 PMID:21383554 PMID:21396581 More... NCBI chrNW_004624754:16,454,304...16,472,721
Ensembl chrNW_004624754:16,459,134...16,472,675 		JBrowse link
G Obsl1 obscurin like cytoskeletal adaptor 1 ISO ClinVar Annotator: match by term: 3M syndrome 1 ClinVar PMID:30980518 NCBI chrNW_004624823:5,491,644...5,518,222
Ensembl chrNW_004624823:5,491,779...5,511,202 		JBrowse link
Three M Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Obsl1 obscurin like cytoskeletal adaptor 1 ISO ClinVar Annotator: match by term: 3M syndrome 2 | ClinVar Annotator: match by term: OBSL1-related condition OMIM
ClinVar		 PMID:16531729 PMID:17681982 PMID:19481195 PMID:19877176 PMID:20164589 More... NCBI chrNW_004624823:5,491,644...5,518,222
Ensembl chrNW_004624823:5,491,779...5,511,202 		JBrowse link
G Stxbp1 syntaxin binding protein 1 ISO ClinVar Annotator: match by term: Three M syndrome 2 ClinVar PMID:19481195 PMID:20887364 PMID:24033266 PMID:25533962 PMID:25741868 More... NCBI chrNW_004624760:7,843,741...7,914,444
Ensembl chrNW_004624760:7,842,640...7,914,484 		JBrowse link
Three M Syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc8 coiled-coil domain containing 8 ISO ClinVar Annotator: match by term: 3M syndrome 3 | ClinVar Annotator: match by term: Three M syndrome 3 OMIM
ClinVar		 PMID:21737058 PMID:25741868 PMID:28492532 PMID:28675896 NCBI chrNW_004624832:7,089,777...7,092,557 JBrowse link
thyroid dyshormonogenesis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc5a5 solute carrier family 5 member 5 ISO ClinVar Annotator: match by term: HYPOTHYROIDISM, CONGENITAL, DUE TO DYSHORMONOGENESIS, 1 | ClinVar Annotator: match by term: IODINE ACCUMULATION, TRANSPORT, OR TRAPPING DEFECT | ClinVar Annotator: match by term: SLC5A5-related condition | ClinVar Annotator: match by term: THYROID HORMONOGENESIS, GENETIC DEFECT IN, 1 OMIM
ClinVar		 PMID:3998954 PMID:9171822 PMID:9388506 PMID:9398697 PMID:9486973 More... NCBI chrNW_004624908:1,401,812...1,410,471
Ensembl chrNW_004624908:1,401,829...1,409,538 		JBrowse link
thyroid dyshormonogenesis 2A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tpo thyroid peroxidase ISO ClinVar Annotator: match by term: HYPOTHYROIDISM, CONGENITAL, DUE TO DYSHORMONOGENESIS, 2A | ClinVar Annotator: match by term: THYROID PEROXIDASE DEFICIENCY | ClinVar Annotator: match by term: Thyroid dyshormonogenesis 2A OMIM
ClinVar		 PMID:1401057 PMID:7550241 PMID:8027236 PMID:8964831 PMID:9024270 More... NCBI chrNW_004624846:1,934,084...1,962,637
Ensembl chrNW_004624846:1,934,469...1,961,291 		JBrowse link
thyroid dyshormonogenesis 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sla Src like adaptor ISO ClinVar Annotator: match by term: TG-related condition | ClinVar Annotator: match by term: THYROID HORMONOGENESIS, GENETIC DEFECT IN, 3 ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004624735:22,929,467...22,949,471
Ensembl chrNW_004624735:22,892,713...22,950,355 		JBrowse link
G Tg thyroglobulin susceptibility ISO ClinVar Annotator: match by term: HYPOTHYROIDISM, CONGENITAL, DUE TO DYSHORMONOGENESIS, 3 | ClinVar Annotator: match by term: TG-related condition | ClinVar Annotator: match by term: THYROID HORMONOGENESIS, GENETIC DEFECT IN, 3 ClinVar
OMIM		 PMID:1752952 PMID:2584351 PMID:7593451 PMID:8094490 PMID:8325944 More... NCBI chrNW_004624735:22,864,373...23,083,457
Ensembl chrNW_004624735:22,862,443...23,083,475 		JBrowse link
thyroid dyshormonogenesis 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Iyd iodotyrosine deiodinase ISO ClinVar Annotator: match by term: DEIODINASE DEFICIENCY | ClinVar Annotator: match by term: Thyroid dyshormonogenesis 4 OMIM
ClinVar		 PMID:13183981 PMID:13333116 PMID:18434651 PMID:18765512 PMID:25741868 More... NCBI chrNW_004624785:7,799,975...7,824,611
Ensembl chrNW_004624785:7,800,408...7,824,647 		JBrowse link
thyroid dyshormonogenesis 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Duoxa2 dual oxidase maturation factor 2 ISO ClinVar Annotator: match by term: Thyroid dyshormonogenesis 5 OMIM
ClinVar		 PMID:18042646 PMID:23292166 PMID:25675383 PMID:25741868 PMID:28492532 More... NCBI chrNW_004624731:14,118,526...14,121,811
Ensembl chrNW_004624731:14,118,426...14,121,928 		JBrowse link
thyroid dyshormonogenesis 6 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: DUOX2-related condition | ClinVar Annotator: match by term: Thyroid dyshormonogenesis 6 OMIM
ClinVar		 PMID:9536098 PMID:12110737 PMID:16134168 PMID:16199547 PMID:16322276 More... NCBI chrNW_004624731:14,121,855...14,139,344
Ensembl chrNW_004624731:14,122,608...14,138,121 		JBrowse link
Torrance type platyspondylic dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B4galt7 beta-1,4-galactosyltransferase 7 ISO ClinVar Annotator: match by term: Lethal skeletal dysplasia ClinVar PMID:1221956 PMID:1640425 PMID:15211654 PMID:18158310 PMID:20691685 More... NCBI chrNW_004624733:12,438,287...12,455,896 JBrowse link
G Col2a1 collagen type II alpha 1 chain ISO ClinVar Annotator: match by term: Platyspondylic dysplasia, Torrance type | ClinVar Annotator: match by term: Thanatophoric dysplasia torrance variant OMIM
ClinVar		 PMID:7695699 PMID:7977371 PMID:8218237 PMID:8702139 PMID:8893763 More... NCBI chrNW_004624816:4,273,969...4,304,519
Ensembl chrNW_004624816:4,274,219...4,304,513 		JBrowse link
Watson syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nf1 neurofibromin 1 ISO ClinVar Annotator: match by term: Pulmonic stenosis with cafe-au-lait spots OMIM
ClinVar		 PMID:190611 PMID:1302608 PMID:1568246 PMID:1757093 PMID:1783401 More... NCBI chrNW_004624875:3,636,762...3,959,991
Ensembl chrNW_004624875:3,636,924...3,956,576 		JBrowse link
Weaver syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cntnap2 contactin associated protein 2 ISO ClinVar Annotator: match by term: Weaver syndrome ClinVar PMID:28492532 NCBI chrNW_004624800:7,182,588...9,280,407
Ensembl chrNW_004624800:7,181,020...9,279,678 		JBrowse link
G Cul1 cullin 1 ISO ClinVar Annotator: match by term: Weaver syndrome ClinVar PMID:28492532 NCBI chrNW_004624800:6,877,986...6,978,587 JBrowse link
G Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit ISO ClinVar Annotator: match by term: Weaver syndrome OMIM
ClinVar		 PMID:4366187 PMID:9536098 PMID:17576681 PMID:18414213 PMID:22177091 More... NCBI chrNW_004624800:6,781,848...6,874,221
Ensembl chrNW_004624800:6,802,901...6,874,196 		JBrowse link
G Nsd1 nuclear receptor binding SET domain protein 1 ISO ClinVar Annotator: match by term: Weaver syndrome ClinVar PMID:18414213 PMID:25741868 PMID:28492532 NCBI chrNW_004624733:12,781,693...12,929,861
Ensembl chrNW_004624733:12,786,347...12,927,980 		JBrowse link
G Suz12 SUZ12 polycomb repressive complex 2 subunit ISO ClinVar Annotator: match by term: Weaver syndrome ClinVar PMID:25741868 PMID:30019515 NCBI chrNW_004624875:4,425,486...4,477,338
Ensembl chrNW_004624875:4,425,418...4,477,909 		JBrowse link
Weill-Marchesani syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adamts10 ADAM metallopeptidase with thrombospondin type 1 motif 10 susceptibility ISO ClinVar Annotator: match by term: Weill-Marchesani syndrome
DNA:SNP:cd: p.G661R (mouse)		 ClinVar
RGD		 PMID:19836009 PMID:25741868 PMID:28492532 PMID:34424262 RGD:243065144 NCBI chrNW_004624828:1,308,920...1,327,528
Ensembl chrNW_004624828:1,308,604...1,326,282 		JBrowse link
G Adamts17 ADAM metallopeptidase with thrombospondin type 1 motif 17 ISO OMIM:277600 | OMIM:608328 | OMIM:613195 | OMIM:614819 MouseDO NCBI chrNW_004624768:4,308,993...4,630,499
Ensembl chrNW_004624768:4,309,035...4,629,289 		JBrowse link
G Bicd2 BICD cargo adaptor 2 ISO ClinVar Annotator: match by term: Weill-Marchesani Syndrome, Autosomal Recessive ClinVar PMID:21208200 PMID:25326637 PMID:25741868 PMID:27751653 PMID:28635954 NCBI chrNW_004624868:3,598,523...3,649,641
Ensembl chrNW_004624868:3,598,688...3,650,731 		JBrowse link
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: Weill-Marchesani syndrome ClinVar PMID:7738200 PMID:7870075 PMID:8281141 PMID:8430317 PMID:8563763 More... NCBI chrNW_004624731:11,086,240...11,318,111
Ensembl chrNW_004624731:11,086,844...11,318,102 		JBrowse link
G Ltbp2 latent transforming growth factor beta binding protein 2 ISO ClinVar Annotator: match by term: Weill-Marchesani syndrome ClinVar PMID:9536098 PMID:17576681 PMID:19656777 PMID:22924778 PMID:23218701 More... NCBI chrNW_004624734:27,058,531...27,162,229
Ensembl chrNW_004624734:27,059,213...27,159,654 		JBrowse link
G Tnf tumor necrosis factor ISO protein:increased expression:serum: RGD PMID:15223607 RGD:9150949 NCBI chrNW_004624754:24,623,059...24,625,647
Ensembl chrNW_004624754:24,623,425...24,625,531 		JBrowse link
Weill-Marchesani Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adamts10 ADAM metallopeptidase with thrombospondin type 1 motif 10 ISO ClinVar Annotator: match by term: ADAMTS10-related condition | ClinVar Annotator: match by term: Weill-Marchesani syndrome 1 OMIM
ClinVar		 PMID:15368195 PMID:16199547 PMID:18567016 PMID:19836009 PMID:25741868 More... NCBI chrNW_004624828:1,308,920...1,327,528
Ensembl chrNW_004624828:1,308,604...1,326,282 		JBrowse link
G Bicd2 BICD cargo adaptor 2 ISO ClinVar Annotator: match by term: Weill-Marchesani syndrome 1 ClinVar PMID:21208200 PMID:25326637 PMID:25741868 PMID:27751653 PMID:28635954 NCBI chrNW_004624868:3,598,523...3,649,641
Ensembl chrNW_004624868:3,598,688...3,650,731 		JBrowse link
G Ltbp2 latent transforming growth factor beta binding protein 2 ISO ClinVar Annotator: match by term: Weill-Marchesani syndrome 1 ClinVar PMID:22539340 NCBI chrNW_004624734:27,058,531...27,162,229
Ensembl chrNW_004624734:27,059,213...27,159,654 		JBrowse link
Weill-Marchesani Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: Weill-Marchesani Syndrome, Autosomal Dominant | ClinVar Annotator: match by term: Weill-Marchesani syndrome 2 OMIM
ClinVar		 PMID:627879 PMID:948948 PMID:1852208 PMID:2005308 PMID:2254511 More... NCBI chrNW_004624731:11,086,240...11,318,111
Ensembl chrNW_004624731:11,086,844...11,318,102 		JBrowse link
Weill-Marchesani Syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ltbp2 latent transforming growth factor beta binding protein 2 ISO ClinVar Annotator: match by term: Weill-Marchesani syndrome 3 OMIM
ClinVar		 PMID:22539340 PMID:23401661 PMID:25741868 PMID:28492532 NCBI chrNW_004624734:27,058,531...27,162,229
Ensembl chrNW_004624734:27,059,213...27,159,654 		JBrowse link
Weill-Marchesani Syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adamts17 ADAM metallopeptidase with thrombospondin type 1 motif 17 ISO ClinVar Annotator: match by term: ADAMTS17-related condition | ClinVar Annotator: match by term: Weill-Marchesani syndrome 4 | ClinVar Annotator: match by term: Weill-Marchesani-like syndrome OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:19836009 PMID:22486325 PMID:24940034 More... NCBI chrNW_004624768:4,308,993...4,630,499
Ensembl chrNW_004624768:4,309,035...4,629,289 		JBrowse link
X-linked 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 ClinVar Annotator: match by term: FGD1-Related Disorders | ClinVar Annotator: match by term: FGD1-related condition OMIM
ClinVar		 PMID:11940089 PMID:14560308 PMID:21739585 PMID:23211637 PMID:25046119 More... NCBI chrNW_004624909:2,316,749...2,370,097
Ensembl chrNW_004624909:2,316,431...2,370,179 		JBrowse link
G Tsr2 TSR2 ribosome maturation factor ISO ClinVar Annotator: match by term: FGD1-related condition ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004624909:2,311,494...2,316,358
Ensembl chrNW_004624909:2,310,718...2,315,538 		JBrowse link
X-Linked Mental Retardation with Isolated Growth Hormone Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sox3 SRY-box transcription factor 3 ISO DNA:duplication:cds:c.712_744dup (human) RGD PMID:12428212 RGD:11535974 NCBI chrNW_004624808:6,167,512...6,169,603
Ensembl chrNW_004624808:6,167,512...6,168,891 		JBrowse link
XFE progeroid 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 OMIM:610965 MouseDO NCBI chrNW_004624907:2,288,380...2,298,909
Ensembl chrNW_004624907:2,288,423...2,298,373 		JBrowse link
G Ercc4 ERCC excision repair 4, endonuclease catalytic subunit ISO ClinVar Annotator: match by term: XFE progeroid syndrome OMIM
ClinVar		 PMID:8797827 PMID:9485007 PMID:9579555 PMID:15159313 PMID:15886521 More... NCBI chrNW_004624782:4,508,758...4,537,751
Ensembl chrNW_004624782:4,512,650...4,537,701 		JBrowse link
Zaki syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wls Wnt ligand secretion mediator ISO ClinVar Annotator: match by term: Zaki syndrome OMIM
ClinVar		 PMID:25741868 PMID:34587386 NCBI chrNW_004624742:27,481,480...27,570,439
Ensembl chrNW_004624742:27,481,427...27,570,439 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14088
    disease of anatomical entity 13753
      endocrine system disease 5514
        Dwarfism 787
          3-M syndrome + 4
          AMED syndrome 2
          Aarskog syndrome + 2
          Abuse Dwarfism Syndrome 0
          Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetes Mellitus 0
          Alopecia Contractures Dwarfism Mental Retardation 0
          Amino Aciduria with Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, and Acidosis 0
          Astley-Kendall Syndrome 0
          Asymmetric Short Stature Syndrome 0
          Atelosteogenesis Type 3 1
          Bangstad Syndrome 0
          Bird Headed Dwarfism Montreal Type 0
          Boomerang dysplasia 1
          Brachydactylous Dwarfism Mseleni Type 0
          Brachymetapody-Anodontia-Hypotrichosis-Albinoidism 0
          Brunoni Syndrome 0
          Bullous Dystrophy, Hereditary Macular Type 0
          Cantu Sanchez-Corona Fragoso Syndrome 0
          Chondrodysplasia Calcificans Metaphysealis 0
          Cockayne syndrome + 32
          De Sanctis-Cacchione syndrome 1
          Desbuquois dysplasia + 7
          Diabetes, Deafness, Developmental Delay, and Short Stature Syndrome 1
          Disproportionate Short Stature with Ptosis and Valvular Heart Lesions 0
          Dwarfism Stiff Joint Ocular Abnormalities 0
          Dwarfism with Tall Vertebrae 0
          Dwarfism, Levi Type 0
          Dwarfism, Low-Birth-Weight Type, with Unresponsiveness to Growth Hormone 0
          Dyggve-Melchior-Clausen disease + 2
          Dyssegmental Dysplasia with Glaucoma 0
          ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME 1
          Familial Dwarfism with Muscle Spasms 0
          Familial Synovial Chondromatosis with Dwarfism 0
          GARG-MISHRA PROGEROID SYNDROME 1
          Growth Hormone Insensitivity with Immune Dysregulation + 2
          Growth Retardation, Developmental Delay, Coarse Facies, and Early Death 2
          Hadziselimovic Syndrome 0
          INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE, FACIAL ANOMALIES, AND SPEECH DEFECTS 1
          Ichthyosis, Mental Retardation, Dwarfism, and Renal Impairment 0
          JOINT LAXITY, SHORT STATURE, AND MYOPIA 1
          Juberg Hayward Syndrome 8
          Kenny-Caffey syndrome type 2 2
          Keratosis Follicularis, Dwarfism, and Cerebral Atrophy 0
          Kniest dysplasia 1
          Laplane Fontaine Lagardere Syndrome 0
          Laron syndrome 2
          Lessel-Kubisch Syndrome 0
          Mental Retardation, Macrocephaly, Short Stature and Craniofacial Dysmorphism 0
          Mesomelic Dwarfism Reinhardt Pfeiffer Type 0
          Mesomelic Dwarfism of Hypoplastic Tibia and Radius Type 0
          Metatropic Dwarfism, Type II 0
          Microcephalic Osteodysplastic Primordial Dwarfism + 3
          Microcephalic Primordial Dwarfism Toriello Type 0
          Microcephaly, Short Stature, and Impaired Glucose Metabolism + 2
          Microcephaly, Short Stature, and Polymicrogyria with or without Seizures 1
          Mollica Pavone Antener Syndrome 0
          Mosaic Variegated Aneuploidy Syndrome 6 1
          Nievergelt Syndrome 0
          Oculopalatocerebral Syndrome 0
          Oliver-McFarlane syndrome 1
          PRIMORDIAL DWARFISM-IMMUNODEFICIENCY-LIPODYSTROPHY SYNDROME 1
          Proportionate Dwarfism with Hip Dislocation 0
          Pseudodiastrophic Dysplasia 0
          Robinow syndrome + 9
          Rommen Mueller Sybert Syndrome 0
          Ruvalcaba Syndrome 0
          SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES 2
          SHORT STATURE, DAUBER-ARGENTE TYPE 1
          SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION 2
          SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY 1
          SHORT STATURE-MICROGNATHIA SYNDROME 1
          SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE 1
          Seckel Like Syndrome Type Buebel 0
          Seckel Syndrome 3 0
          Seckel syndrome 1 4
          Seckel syndrome 2 2
          Seckel syndrome 4 2
          Short Limb Dwarfism Al Gazali Type 1
          Short Stature and Facioauriculothoracic Malformations 0
          Short Stature and Microcephaly with Genital Anomalies 1
          Short Stature with Nonspecific Skeletal Abnormalities 2
          Short Stature, Developmental Delay, and Congenital Heart Defects 1
          Short Stature, Facial Dysmorphism, and Skeletal Anomalies with or without Cardiac Anomalies + 2
          Short Stature, Impaired Intellectual Development, Callosal Agenesis, Heminasal Hypoplasia, Microphthalmia, and Atypical Clefting 0
          Short Stature-Obesity Syndrome 0
          Silver-Russell syndrome + 7
          Silverman-Handmaker type dyssegmental dysplasia 1
          Singh Chhaparwal Dhanda Syndrome 0
          Spondyloepiphyseal Dysplasia Tarda, Toledo Type 0
          Tessadori-van Haaften Neurodevelopmental Syndrome 1 0
          Thoraco Limb Dysplasia Rivera Type 0
          Thoracomelic Dysplasia 0
          Tryptophanuria with Dwarfism 0
          Watson syndrome 1
          Weill-Marchesani syndrome + 6
          Zaki syndrome 1
          achondroplasia + 50
          acromesomelic dysplasia + 88
          anauxetic dysplasia + 55
          congenital hypothyroidism + 212
          diastrophic dysplasia + 1
          diphthamide deficiency syndrome + 4
          fibrochondrogenesis + 2
          geroderma osteodysplasticum 1
          hypochondroplasia 1
          intellectual developmental disorder with abnormal behavior, microcephaly, and short stature 1
          intellectual developmental disorder with short stature and behavioral abnormalities 0
          isolated growth hormone deficiency + 45
          metatropic dysplasia 1
          mulibrey nanism 5
          otospondylomegaepiphyseal dysplasia, autosomal recessive 2
          parastremmatic dwarfism 1
          rapadilino syndrome 1
          short stature, hearing loss, retinitis pigmentosa, and distinctive facies 1
          spondylometaepiphyseal dysplasia, short limb-hand type 1
          spondylometaphyseal dysplasia Megarbane-Dagher-Melike type 1
Path 2
Term Annotations click to browse term
  disease 14088
    disease of anatomical entity 13753
      Skin and Connective Tissue Diseases 6302
        connective tissue disease 4910
          bone disease 3621
            bone development disease 2143
              Dwarfism 787
                3-M syndrome + 4
                AMED syndrome 2
                Aarskog syndrome + 2
                Abuse Dwarfism Syndrome 0
                Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetes Mellitus 0
                Alopecia Contractures Dwarfism Mental Retardation 0
                Amino Aciduria with Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, and Acidosis 0
                Astley-Kendall Syndrome 0
                Asymmetric Short Stature Syndrome 0
                Atelosteogenesis Type 3 1
                Bangstad Syndrome 0
                Bird Headed Dwarfism Montreal Type 0
                Boomerang dysplasia 1
                Brachydactylous Dwarfism Mseleni Type 0
                Brachymetapody-Anodontia-Hypotrichosis-Albinoidism 0
                Brunoni Syndrome 0
                Bullous Dystrophy, Hereditary Macular Type 0
                Cantu Sanchez-Corona Fragoso Syndrome 0
                Chondrodysplasia Calcificans Metaphysealis 0
                Cockayne syndrome + 32
                De Sanctis-Cacchione syndrome 1
                Desbuquois dysplasia + 7
                Diabetes, Deafness, Developmental Delay, and Short Stature Syndrome 1
                Disproportionate Short Stature with Ptosis and Valvular Heart Lesions 0
                Dwarfism Stiff Joint Ocular Abnormalities 0
                Dwarfism with Tall Vertebrae 0
                Dwarfism, Levi Type 0
                Dwarfism, Low-Birth-Weight Type, with Unresponsiveness to Growth Hormone 0
                Dyggve-Melchior-Clausen disease + 2
                Dyssegmental Dysplasia with Glaucoma 0
                ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME 1
                Familial Dwarfism with Muscle Spasms 0
                Familial Synovial Chondromatosis with Dwarfism 0
                GARG-MISHRA PROGEROID SYNDROME 1
                Growth Hormone Insensitivity with Immune Dysregulation + 2
                Growth Retardation, Developmental Delay, Coarse Facies, and Early Death 2
                Hadziselimovic Syndrome 0
                INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE, FACIAL ANOMALIES, AND SPEECH DEFECTS 1
                Ichthyosis, Mental Retardation, Dwarfism, and Renal Impairment 0
                JOINT LAXITY, SHORT STATURE, AND MYOPIA 1
                Juberg Hayward Syndrome 8
                Kenny-Caffey syndrome type 2 2
                Keratosis Follicularis, Dwarfism, and Cerebral Atrophy 0
                Kniest dysplasia 1
                Laplane Fontaine Lagardere Syndrome 0
                Laron syndrome 2
                Lessel-Kubisch Syndrome 0
                Mental Retardation, Macrocephaly, Short Stature and Craniofacial Dysmorphism 0
                Mesomelic Dwarfism Reinhardt Pfeiffer Type 0
                Mesomelic Dwarfism of Hypoplastic Tibia and Radius Type 0
                Metatropic Dwarfism, Type II 0
                Microcephalic Osteodysplastic Primordial Dwarfism + 3
                Microcephalic Primordial Dwarfism Toriello Type 0
                Microcephaly, Short Stature, and Impaired Glucose Metabolism + 2
                Microcephaly, Short Stature, and Polymicrogyria with or without Seizures 1
                Mollica Pavone Antener Syndrome 0
                Mosaic Variegated Aneuploidy Syndrome 6 1
                Nievergelt Syndrome 0
                Oculopalatocerebral Syndrome 0
                Oliver-McFarlane syndrome 1
                PRIMORDIAL DWARFISM-IMMUNODEFICIENCY-LIPODYSTROPHY SYNDROME 1
                Proportionate Dwarfism with Hip Dislocation 0
                Pseudodiastrophic Dysplasia 0
                Robinow syndrome + 9
                Rommen Mueller Sybert Syndrome 0
                Ruvalcaba Syndrome 0
                SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES 2
                SHORT STATURE, DAUBER-ARGENTE TYPE 1
                SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION 2
                SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY 1
                SHORT STATURE-MICROGNATHIA SYNDROME 1
                SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE 1
                Seckel Like Syndrome Type Buebel 0
                Seckel Syndrome 3 0
                Seckel syndrome 1 4
                Seckel syndrome 2 2
                Seckel syndrome 4 2
                Short Limb Dwarfism Al Gazali Type 1
                Short Stature and Facioauriculothoracic Malformations 0
                Short Stature and Microcephaly with Genital Anomalies 1
                Short Stature with Nonspecific Skeletal Abnormalities 2
                Short Stature, Developmental Delay, and Congenital Heart Defects 1
                Short Stature, Facial Dysmorphism, and Skeletal Anomalies with or without Cardiac Anomalies + 2
                Short Stature, Impaired Intellectual Development, Callosal Agenesis, Heminasal Hypoplasia, Microphthalmia, and Atypical Clefting 0
                Short Stature-Obesity Syndrome 0
                Silver-Russell syndrome + 7
                Silverman-Handmaker type dyssegmental dysplasia 1
                Singh Chhaparwal Dhanda Syndrome 0
                Spondyloepiphyseal Dysplasia Tarda, Toledo Type 0
                Tessadori-van Haaften Neurodevelopmental Syndrome 1 0
                Thoraco Limb Dysplasia Rivera Type 0
                Thoracomelic Dysplasia 0
                Tryptophanuria with Dwarfism 0
                Watson syndrome 1
                Weill-Marchesani syndrome + 6
                Zaki syndrome 1
                achondroplasia + 50
                acromesomelic dysplasia + 88
                anauxetic dysplasia + 55
                congenital hypothyroidism + 212
                diastrophic dysplasia + 1
                diphthamide deficiency syndrome + 4
                fibrochondrogenesis + 2
                geroderma osteodysplasticum 1
                hypochondroplasia 1
                intellectual developmental disorder with abnormal behavior, microcephaly, and short stature 1
                intellectual developmental disorder with short stature and behavioral abnormalities 0
                isolated growth hormone deficiency + 45
                metatropic dysplasia 1
                mulibrey nanism 5
                otospondylomegaepiphyseal dysplasia, autosomal recessive 2
                parastremmatic dwarfism 1
                rapadilino syndrome 1
                short stature, hearing loss, retinitis pigmentosa, and distinctive facies 1
                spondylometaepiphyseal dysplasia, short limb-hand type 1
                spondylometaphyseal dysplasia Megarbane-Dagher-Melike type 1
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