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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
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
Dwarfism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 chr 1:96,598,663...96,679,495
Ensembl chr 1:96,598,647...96,679,510
JBrowse link
G Abcg4 ATP binding cassette subfamily G member 4 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:44,611,187...44,629,818
Ensembl chr 8:44,611,187...44,626,881
JBrowse link
G Acan aggrecan ISO
IEP
ClinVar Annotator: match by term: Short stature
protein:decreased expression:cartilage
protein:altered localization:cartilage
mRNA:decreased expression:costal cartilage
DNA:frameshift mutation, missense mutation, splice-site mutation:exon:c.272delA, c.2026+1G>A, c.7064T>C (p.L2355P) (human)
DNA:frameshift mutation:exon:c.5391delG (human)
ClinVar
RGD
PMID:9192671 PMID:9988279 PMID:25736479 PMID:18678883 PMID:24762113 More... RGD:1300269, RGD:734826, RGD:11570533, RGD:11570531, RGD:11570526, RGD:11061419 NCBI chr 1:132,981,034...133,044,416
Ensembl chr 1:132,981,582...133,043,627
JBrowse link
G Acrv1 acrosomal vesicle protein 1 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:36,404,394...36,409,971
Ensembl chr 8:36,404,394...36,424,959
JBrowse link
G Actb actin, beta ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:25741868 NCBI chr12:11,663,112...11,666,697
Ensembl chr12:11,663,109...11,672,877
JBrowse link
G Adamts15 ADAM metallopeptidase with thrombospondin type 1 motif, 15 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:29,307,864...29,331,249
Ensembl chr 8:29,307,865...29,331,249
JBrowse link
G Adamts8 ADAM metallopeptidase with thrombospondin type 1 motif, 8 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:29,349,078...29,368,413
Ensembl chr 8:29,349,114...29,368,404
JBrowse link
G Adgrb3 adhesion G protein-coupled receptor B3 ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chr 9:27,421,168...28,148,979
Ensembl chr 9:27,421,168...28,148,855
JBrowse link
G Aff2 ALF transcription elongation factor 2 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:25741868 NCBI chr  X:147,928,130...148,432,484
Ensembl chr  X:147,928,407...148,429,995
JBrowse link
G Aifm3 apoptosis inducing factor, mitochondria associated 3 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:25741868 NCBI chr11:83,504,859...83,523,630
Ensembl chr11:83,504,861...83,521,248
JBrowse link
G Alg12 ALG12, alpha-1,6-mannosyltransferase ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chr 7:119,895,112...119,909,488
Ensembl chr 7:119,895,120...119,909,458
JBrowse link
G Aloxe3 arachidonate lipoxygenase 3 ISO ClinVar Annotator: match by term: Disproportionate short stature ClinVar PMID:25741868 NCBI chr10:53,830,219...53,854,328
Ensembl chr10:53,831,264...53,854,328
JBrowse link
G Ammecr1 AMMECR nuclear protein 1 ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chr  X:106,465,982...106,571,382
Ensembl chr  X:106,466,699...106,571,487
JBrowse link
G Angpt2 angiopoietin 2 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:25741868 PMID:26467025 PMID:28492532 PMID:32714618 NCBI chr16:71,088,364...71,138,805
Ensembl chr16:71,088,364...71,138,804
JBrowse link
G Anks3 ankyrin repeat and sterile alpha motif domain containing 3 ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chr10:10,614,953...10,635,815
Ensembl chr10:10,615,047...10,635,806
JBrowse link
G Aplp2 amyloid beta precursor like protein 2 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:29,599,230...29,662,311
Ensembl chr 8:29,599,230...29,661,855
JBrowse link
G Apoa1 apolipoprotein A1 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:46,527,251...46,529,035
Ensembl chr 8:46,527,144...46,529,035
JBrowse link
G Apoa4 apolipoprotein A4 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:46,539,083...46,541,464
Ensembl chr 8:46,539,082...46,541,469
JBrowse link
G Apoa5 apolipoprotein A5 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:46,561,180...46,563,818
Ensembl chr 8:46,561,229...46,563,816
JBrowse link
G Apoc3 apolipoprotein C3 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:46,531,478...46,533,658
Ensembl chr 8:46,531,478...46,533,583
JBrowse link
G Arcn1 archain 1 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:45,057,617...45,082,224
Ensembl chr 8:45,057,619...45,082,247
JBrowse link
G Arhgap32 Rho GTPase activating protein 32 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:30,421,269...30,681,653
Ensembl chr 8:30,421,515...30,678,454
JBrowse link
G Arhgef12 Rho guanine nucleotide exchange factor 12 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:43,350,070...43,475,404
Ensembl chr 8:43,353,799...43,476,366
JBrowse link
G Arvcf ARVCF, delta catenin family member ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:25741868 NCBI chr11:82,588,137...82,645,805
Ensembl chr11:82,587,881...82,645,805
JBrowse link
G Atp5mg ATP synthase membrane subunit g ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:45,226,750...45,233,582
Ensembl chr 8:45,225,686...45,233,559
JBrowse link
G Atrx ATRX, chromatin remodeler ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:25741868 NCBI chr  X:70,850,981...70,997,330
Ensembl chr  X:70,850,981...70,997,330
JBrowse link
G Bace1 beta-secretase 1 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:46,142,060...46,166,268
Ensembl chr 8:46,142,116...46,165,876
JBrowse link
G Barx2 BARX homeobox 2 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:30,251,132...30,319,105
Ensembl chr 8:30,251,132...30,319,013
JBrowse link
G Bcl9l BCL9 like ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:44,811,977...44,840,611
Ensembl chr 8:44,811,977...44,840,611
JBrowse link
G Brd4 bromodomain containing 4 ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chr 7:11,216,446...11,296,029
Ensembl chr 7:11,216,446...11,295,539
JBrowse link
G Bsx brain specific homeobox ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:41,254,105...41,257,861
Ensembl chr 8:41,254,105...41,257,861
JBrowse link
G Bud13 BUD13 homolog ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:46,575,124...46,590,964
Ensembl chr 8:46,575,115...46,590,958
JBrowse link
G C1qtnf5 C1q and TNF related 5 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:44,450,934...44,453,075
Ensembl chr 8:44,451,154...44,453,074
JBrowse link
G C2cd2l C2CD2-like ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:44,648,074...44,658,856
Ensembl chr 8:44,648,079...44,658,340
JBrowse link
G Cadm1 cell adhesion molecule 1 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:47,847,836...48,178,703
Ensembl chr 8:47,847,325...48,182,833
JBrowse link
G Cant1 calcium activated nucleotidase 1 ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chr10:103,637,079...103,650,240
Ensembl chr10:103,531,504...103,650,109
JBrowse link
G Cbl Cbl proto-oncogene ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:44,487,824...44,571,620
Ensembl chr 8:44,489,410...44,571,176
JBrowse link
G Ccdc120 coiled-coil domain containing 120 ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chr  X:14,753,594...14,772,745
Ensembl chr  X:14,753,696...14,772,743
JBrowse link
G Ccdc15 coiled-coil domain containing 15 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:36,991,147...37,068,849
Ensembl chr 8:36,998,867...37,068,919
JBrowse link
G Ccdc153 coiled-coil domain containing 153 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:44,576,528...44,584,345
Ensembl chr 8:44,577,836...44,584,338
JBrowse link
G Ccdc188 coiled-coil domain containing 188 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:25741868 NCBI chr11:82,769,735...82,772,062
Ensembl chr11:82,769,473...82,772,114
JBrowse link
G Ccn2 cellular communication network factor 2 ISO RGD PMID:11237711 RGD:734846 NCBI chr 1:20,802,199...20,805,315
Ensembl chr 1:20,802,199...20,805,734
JBrowse link
G Cd3d CD3 delta subunit of T-cell receptor complex ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:45,287,803...45,293,342
Ensembl chr 8:45,288,749...45,301,809
JBrowse link
G Cd3e CD3 epsilon subunit of T-cell receptor complex ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:45,303,848...45,315,297
Ensembl chr 8:45,303,852...45,315,022
JBrowse link
G Cd3g CD3 gamma subunit of T-cell receptor complex ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:45,280,797...45,287,271
Ensembl chr 8:45,281,204...45,287,147
JBrowse link
G Cdc45 cell division cycle 45 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:25741868 NCBI chr11:82,185,427...82,210,630
Ensembl chr11:82,185,473...82,210,619
JBrowse link
G Cdon cell adhesion associated, oncogene regulated ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:33,775,123...33,861,635
Ensembl chr 8:33,806,183...33,859,033
JBrowse link
G Cenatac centrosomal AT-AC splicing factor ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:44,735,968...44,742,859
Ensembl chr 8:44,735,972...44,742,837
JBrowse link
G Cep164 centrosomal protein 164 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:46,070,901...46,134,511
Ensembl chr 8:46,071,076...46,134,336
JBrowse link
G Cep76 centrosomal protein 76 ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chr18:61,174,514...61,208,512
Ensembl chr18:61,178,310...61,208,504
JBrowse link
G Chd1l chromodomain helicase DNA binding protein 1-like ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chr 2:185,138,526...185,217,498
Ensembl chr 2:185,139,308...185,217,595
JBrowse link
G Chek1 checkpoint kinase 1 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:36,420,565...36,443,477
Ensembl chr 8:36,420,569...36,441,009
JBrowse link
G Clasp1 cytoplasmic linker associated protein 1 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:12409455 PMID:21474760 PMID:21990275 PMID:22581640 PMID:23794361 More... NCBI chr13:29,493,554...29,715,151
Ensembl chr13:29,493,596...29,715,146
JBrowse link
G Cldn5 claudin 5 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:25741868 NCBI chr11:82,212,822...82,214,248
Ensembl chr11:82,211,475...82,214,992
JBrowse link
G Clgn calmegin ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chr19:24,695,140...24,728,542
Ensembl chr19:24,696,875...24,728,758
JBrowse link
G Clic4 chloride intracellular channel 4 ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chr 5:147,456,819...147,513,278
Ensembl chr 5:147,453,712...147,513,452
JBrowse link
G Clip1 CAP-GLY domain containing linker protein 1 ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chr12:32,910,932...33,017,891
Ensembl chr12:32,910,977...33,017,884
JBrowse link
G Clmp CXADR-like membrane protein ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:41,060,527...41,168,841
Ensembl chr 8:41,060,799...41,168,838
JBrowse link
G Col11a2 collagen type XI alpha 2 chain ISO Skeletal dysplasia 2, COL11A2-related OMIA PMID:23527306 NCBI chr20:4,786,929...4,816,598
Ensembl chr20:4,786,929...4,815,985
JBrowse link
G Col2a1 collagen type II alpha 1 chain ISO DNA:deletion:cds:p.KT206,207N(mouse)
ClinVar Annotator: match by term: Short stature
ClinVar
RGD
PMID:25741868 PMID:18678883 RGD:11570531 NCBI chr 7:129,098,489...129,127,620
Ensembl chr 7:129,098,786...129,127,546
JBrowse link
G Col7a1 collagen type VII alpha 1 chain ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:8037207 PMID:9881948 PMID:12787275 PMID:16971478 PMID:19681861 More... NCBI chr 8:109,604,877...109,637,252
Ensembl chr 8:109,604,861...109,637,252
JBrowse link
G Comt catechol-O-methyltransferase ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:25741868 NCBI chr11:82,568,052...82,587,642
Ensembl chr11:82,568,025...82,587,642
JBrowse link
G Cpz carboxypeptidase Z ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chr14:75,223,692...75,246,946
Ensembl chr14:75,223,605...75,246,945
JBrowse link
G Crkl CRK like proto-oncogene, adaptor protein ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:25741868 NCBI chr11:83,528,788...83,563,214
Ensembl chr11:83,526,530...83,563,238
JBrowse link
G Crtam cytotoxic and regulatory T cell molecule ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:41,340,117...41,377,343
Ensembl chr 8:41,340,837...41,377,343
JBrowse link
G Cul4b cullin 4B ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:8135271 PMID:17236139 PMID:17273978 PMID:25741868 NCBI chr  X:117,287,481...117,326,688
Ensembl chr  X:117,287,484...117,326,688
JBrowse link
G Cul7 cullin 7 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:25741868 NCBI chr 9:14,319,102...14,333,035
Ensembl chr 9:14,319,108...14,332,741
JBrowse link
G Cxcr5 C-X-C motif chemokine receptor 5 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:44,842,098...44,858,425
Ensembl chr 8:44,843,413...44,857,893
JBrowse link
G Dcps decapping enzyme, scavenger ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:33,468,669...33,524,407
Ensembl chr 8:33,415,671...33,524,389
JBrowse link
G Ddx25 DEAD-box helicase 25 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:33,894,224...33,910,377
Ensembl chr 8:33,894,232...33,921,764
JBrowse link
G Ddx6 DEAD-box helicase 6 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:44,931,127...44,967,773
Ensembl chr 8:44,931,974...44,964,405
JBrowse link
G Dennd4b DENN domain containing 4B ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chr 2:175,720,473...175,736,425
Ensembl chr 2:175,709,610...175,736,426
JBrowse link
G Dgcr2 DiGeorge syndrome critical region gene 2 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:25741868 NCBI chr11:83,093,961...83,144,507
Ensembl chr11:83,094,037...83,144,502
JBrowse link
G Dgcr8 DGCR8 microprocessor complex subunit ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:25741868 NCBI chr11:82,704,673...82,737,251
Ensembl chr11:82,704,729...82,737,242
JBrowse link
G Dhx34 DExH-box helicase 34 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:31256877 NCBI chr 1:76,880,867...76,905,148
Ensembl chr 1:76,880,867...76,905,113
JBrowse link
G Dnah17 dynein, axonemal, heavy chain 17 ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chr10:103,244,144...103,364,953
Ensembl chr10:103,249,363...103,364,901
JBrowse link
G Dnmt3a DNA methyltransferase 3 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:30478443 NCBI chr 6:26,791,517...26,902,161
Ensembl chr 6:26,822,609...26,896,687
JBrowse link
G Donson DNA replication fork stabilization factor DONSON ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Short stature
CTD
ClinVar
PMID:25741868 PMID:28191891 PMID:28492532 PMID:31407851 NCBI chr11:30,911,616...30,933,150
Ensembl chr11:30,923,239...30,932,889
JBrowse link
G Dpagt1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:44,664,055...44,671,102
Ensembl chr 8:44,664,071...44,671,087
JBrowse link
G Dscaml1 DS cell adhesion molecule-like 1 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:45,740,298...46,057,322
Ensembl chr 8:45,740,298...46,057,320
JBrowse link
G Dvl3 dishevelled segment polarity protein 3 ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chr11:80,365,446...80,382,641
Ensembl chr11:80,366,117...80,382,462
JBrowse link
G Edem3 ER degradation enhancing alpha-mannosidase like protein 3 ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chr13:63,858,282...63,920,538
Ensembl chr13:63,858,716...63,920,523
JBrowse link
G Ei24 EI24, autophagy associated transmembrane protein ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:36,494,289...36,510,653
Ensembl chr 8:36,494,289...36,510,571
JBrowse link
G Ep300 E1A binding protein p300 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:25741868 NCBI chr 7:113,108,476...113,178,529
Ensembl chr 7:113,106,247...113,136,088
Ensembl chr 7:113,106,247...113,136,088
JBrowse link
G Esam endothelial cell adhesion molecule ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:37,238,228...37,249,217
Ensembl chr 8:37,238,287...37,249,215
JBrowse link
G Ess2 ess-2 splicing factor homolog ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:25741868 NCBI chr11:83,075,893...83,085,849
Ensembl chr11:83,075,925...83,084,846
JBrowse link
G Ets1 ETS proto-oncogene 1, transcription factor ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:31,045,909...31,168,010
Ensembl chr 8:31,045,945...31,168,010
JBrowse link
G Fam111a FAM111 trypsin like peptidase A ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:25741868 NCBI chr 1:209,640,865...209,656,551
Ensembl chr 1:209,640,953...209,656,547
JBrowse link
G Fam118b family with sequence similarity 118, member B ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:33,566,681...33,617,310
Ensembl chr 8:33,566,669...33,617,270
JBrowse link
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:21683322 PMID:25741868 PMID:27245183 PMID:28492532 NCBI chr 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889
JBrowse link
G Fbrs fibrosin ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chr 1:182,090,741...182,104,026
Ensembl chr 1:182,089,844...182,103,828
JBrowse link
G Fez1 fasciculation and elongation protein zeta 1 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:36,544,462...36,589,684
Ensembl chr 8:36,544,535...36,589,683
JBrowse link
G Fgf18 fibroblast growth factor 18 ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chr10:17,706,011...17,737,702
Ensembl chr10:17,706,174...17,736,818
JBrowse link
G Fgfr3 fibroblast growth factor receptor 3 ISO ClinVar Annotator: match by term: Short stature ClinVar
RGD
PMID:1908846 PMID:7670477 PMID:7773297 PMID:8589686 PMID:8858131 More... RGD:11568033 NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341
JBrowse link
G Fkbp10 FKBP prolyl isomerase 10 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:20362275 PMID:20839288 PMID:21567934 PMID:22689593 PMID:22949511 More... NCBI chr10:85,345,434...85,357,998
Ensembl chr10:85,346,126...85,427,330
JBrowse link
G Fli1 Fli-1 proto-oncogene, ETS transcription factor ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:30,831,422...30,950,468
Ensembl chr 8:30,832,753...30,950,433
JBrowse link
G Flna filamin A ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:6019437 PMID:11704759 PMID:11992261 PMID:12612583 PMID:15917206 More... NCBI chr  X:152,007,758...152,034,266
Ensembl chr  X:152,007,758...152,031,052
JBrowse link
G Flnb filamin B ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chr15:16,961,999...17,095,059
Ensembl chr15:16,962,003...17,095,006
JBrowse link
G Foxr1 forkhead box R1 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:44,760,587...44,768,696
Ensembl chr 8:44,760,948...44,768,880
JBrowse link
G Foxred1 FAD-dependent oxidoreductase domain containing 1 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:33,551,010...33,560,227
Ensembl chr 8:33,551,013...33,560,192
JBrowse link
G Fxyd2 FXYD domain-containing ion transport regulator 2 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:45,712,887...45,720,032
Ensembl chr 8:45,712,903...45,720,203
JBrowse link
G Fxyd6 FXYD domain-containing ion transport regulator 6 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:45,679,054...45,705,958
Ensembl chr 8:45,678,885...45,705,958
JBrowse link
G Fzd2 frizzled class receptor 2 ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chr10:87,561,866...87,563,776
Ensembl chr10:87,561,326...87,565,334
JBrowse link
G G6pc1 glucose-6-phosphatase catalytic subunit 1 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:2172641 PMID:7573034 PMID:7623438 PMID:7744838 PMID:7814621 More... NCBI chr10:86,307,400...86,318,766
Ensembl chr10:86,257,668...86,333,804
JBrowse link
G Gabre gamma-aminobutyric acid type A receptor subunit epsilon ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chr  X:150,060,035...150,078,773
Ensembl chr  X:150,060,040...150,078,693
JBrowse link
G Gh1 growth hormone 1 ISO
IAGP
IEP
DNA:mutations:promoter:c.-223C>T( rs41295015), c.-185T>C(rs71651677)(human)
mRNA,protein:decreased expression:pituitary gland, blood:
RGD PMID:27252485 PMID:2752987 PMID:2152867 PMID:8670892 PMID:8670892 RGD:12904666, RGD:1578505, RGD:1578506, RGD:12905039, RGD:12905039 NCBI chr10:91,228,102...91,230,079
Ensembl chr10:91,228,103...91,230,078
JBrowse link
G Gh1sdr IAGP RGD PMID:2152867 PMID:2752987 RGD:1578506, RGD:1578505
G Ghr growth hormone receptor treatment ISO protein:increased expression:CD20 positive lymphocyte:
ClinVar Annotator: match by term: Short stature
DNA:missense mutation:exon:p.V144I(human)
DNA:deletion:exon:
ClinVar
RGD
PMID:10984309 PMID:25741868 PMID:28492532 PMID:9373455 PMID:9814495 More... RGD:11565837, RGD:11566044, RGD:11566042 NCBI chr 2:52,541,452...52,804,960
Ensembl chr 2:52,542,594...52,804,735
JBrowse link
G Ghrl ghrelin and obestatin prepropeptide ISO protein:increased expression:serum: RGD PMID:20861603 RGD:12904881 NCBI chr 4:146,865,712...146,869,621
Ensembl chr 4:146,865,712...146,869,621
JBrowse link
G Ghsr growth hormone secretagogue receptor ISO DNA:mutations: : RGD PMID:21084395 PMID:7968381 RGD:12904884, RGD:12910126 NCBI chr 2:110,268,489...110,271,865
Ensembl chr 2:110,268,489...110,271,865
JBrowse link
G Gnai2 G protein subunit alpha i2 ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chr 8:108,288,401...108,309,009
Ensembl chr 8:108,288,401...108,308,979
JBrowse link
G Gnb1l G protein subunit beta 1 like ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:25741868 NCBI chr11:82,425,301...82,507,836
Ensembl chr11:82,432,627...82,507,466
JBrowse link
G Gp1bb glycoprotein Ib platelet subunit beta ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:25741868 NCBI chr11:82,378,216...82,379,393
Ensembl chr11:82,378,199...82,379,392
JBrowse link
G Gramd1b GRAM domain containing 1B ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:40,654,492...40,893,869
Ensembl chr 8:40,659,182...40,893,925
JBrowse link
G Greb1l GREB1 like retinoic acid receptor coactivator ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chr18:1,392,330...1,629,483
Ensembl chr18:1,392,725...1,628,067
JBrowse link
G Grik4 glutamate ionotropic receptor kainate type subunit 4 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:42,903,043...43,331,990
Ensembl chr 8:42,905,056...43,193,751
JBrowse link
G Gsc2 goosecoid homeobox 2 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:25741868 NCBI chr11:83,070,784...83,075,874
Ensembl chr11:83,072,138...83,074,126
JBrowse link
G H2ap H2A.P histone ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chr  X:12,907,962...12,908,516 JBrowse link
G H2ax H2A.X variant histone ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:44,671,927...44,673,257
Ensembl chr 8:44,671,786...44,673,239
JBrowse link
G Hapln1 hyaluronan and proteoglycan link protein 1 ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:9988279 PMID:9988279 RGD:734826 NCBI chr 2:20,631,640...20,696,388
Ensembl chr 2:20,631,640...20,693,777
JBrowse link
G Hepacam hepatic and glial cell adhesion molecule ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:37,087,864...37,106,759
Ensembl chr 8:37,087,857...37,105,920
JBrowse link
G Hes7 hes family bHLH transcription factor 7 ISO ClinVar Annotator: match by term: Disproportionate short stature ClinVar PMID:25741868 NCBI chr10:53,824,124...53,828,350
Ensembl chr10:53,825,574...53,828,097
JBrowse link
G Hinfp histone H4 transcription factor ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:44,634,333...44,644,288
Ensembl chr 8:44,634,333...44,641,000
JBrowse link
G Hira histone cell cycle regulator ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:25741868 NCBI chr11:82,024,469...82,133,212
Ensembl chr11:82,024,469...82,133,529
JBrowse link
G Hkdc1 hexokinase domain containing 1 ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chr20:30,335,322...30,373,792
Ensembl chr20:30,335,628...30,373,867
JBrowse link
G Hmbs hydroxymethylbilane synthase ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:44,673,554...44,680,950
Ensembl chr 8:44,673,554...44,680,957
JBrowse link
G Hook3 hook microtubule-tethering protein 3 ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chr16:65,954,293...66,058,812
Ensembl chr16:65,954,350...66,061,338
JBrowse link
G Hspa8 heat shock protein family A (Hsp70) member 8 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:41,183,397...41,187,260
Ensembl chr 8:41,183,264...41,187,259
JBrowse link
G Hyls1 HYLS1, centriolar and ciliogenesis associated ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:33,913,016...33,922,125
Ensembl chr 8:33,912,692...33,921,760
JBrowse link
G Hyou1 hypoxia up-regulated 1 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:44,706,073...44,718,189
Ensembl chr 8:44,706,263...44,718,186
JBrowse link
G Ift46 intraflagellar transport 46 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:45,081,593...45,104,052
Ensembl chr 8:45,087,440...45,104,052
JBrowse link
G Ift81 intraflagellar transport 81 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:28492532 NCBI chr12:33,957,744...34,037,164
Ensembl chr12:33,957,806...34,037,057
JBrowse link
G Igf1 insulin-like growth factor 1 ISO
IEP
DNA:nonsense mutation,haploinsufficiency :cds:
protein:decreased expression:plasma (rat)
RGD PMID:20668042 PMID:20102388 RGD:8548823, RGD:12904931 NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296
JBrowse link
G Igf1r insulin-like growth factor 1 receptor ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chr 1:121,549,839...121,838,545
Ensembl chr 1:121,550,743...121,831,777
JBrowse link
G Igfbp3 insulin-like growth factor binding protein 3 ISO associated with Anemia, Sickle Cell; RGD PMID:17396438 RGD:12743603 NCBI chr14:82,056,347...82,064,083
Ensembl chr14:82,056,347...82,064,083
JBrowse link
G Il10ra interleukin 10 receptor subunit alpha ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:45,563,009...45,578,041
Ensembl chr 8:45,563,137...45,578,061
JBrowse link
G Itih6-ps1 inter-alpha-trypsin inhibitor heavy chain family member 6, pseudogene 1 ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chr  X:19,753,333...19,790,259 JBrowse link
G Jaml junction adhesion molecule like ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:45,384,836...45,415,459
Ensembl chr 8:45,383,495...45,416,565
JBrowse link
G Jhy junctional cadherin complex regulator ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:41,276,501...41,333,383
Ensembl chr 8:41,276,491...41,333,514
JBrowse link
G Kcnd1 potassium voltage-gated channel subfamily D member 1 ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chr  X:14,661,688...14,678,745
Ensembl chr  X:14,662,357...14,677,233
JBrowse link
G Kcnj1 potassium inwardly-rectifying channel, subfamily J, member 1 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:30,779,883...30,808,607
Ensembl chr 8:30,753,617...30,813,796
JBrowse link
G Kcnj5 potassium inwardly-rectifying channel, subfamily J, member 5 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:30,724,923...30,753,083
Ensembl chr 8:30,724,925...30,753,518
JBrowse link
G Kirrel3 kirre like nephrin family adhesion molecule 3 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:32,865,779...33,407,555
Ensembl chr 8:32,862,776...33,405,676
JBrowse link
G Klhl22 kelch-like family member 22 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:25741868 NCBI chr11:83,190,891...83,231,746
Ensembl chr11:83,190,891...83,231,770
JBrowse link
G Kmt2a lysine methyltransferase 2A ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:45,116,771...45,193,320
Ensembl chr 8:45,118,814...45,193,181
JBrowse link
G Lama5 laminin subunit alpha 5 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:28492532 NCBI chr 3:167,270,296...167,318,370
Ensembl chr 3:167,270,296...167,318,451
JBrowse link
G Lemd2 LEM domain nuclear envelope protein 2 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:25741868 PMID:30905398 NCBI chr20:5,282,397...5,296,621
Ensembl chr20:5,282,397...5,296,626
JBrowse link
G Lmna lamin A/C ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:19589617 PMID:22918509 PMID:23183350 PMID:24033266 PMID:25741868 More... NCBI chr 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423
JBrowse link
G LOC103689958 olfactory receptor 49-like ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 1:65,911,907...65,913,255
Ensembl chr 1:65,912,105...65,913,079
JBrowse link
G LOC120095775 small nucleolar RNA SNORA77 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:25741868 NCBI chr11:82,749,967...82,750,091
Ensembl chr11:82,749,967...82,750,091
JBrowse link
G LOC498122 similar to CG15908-PA ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:25741868 NCBI chr11:82,155,992...82,160,235
Ensembl chr11:82,159,528...82,160,235
JBrowse link
G Lonp1 lon peptidase 1, mitochondrial ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:28492532 NCBI chr 9:1,447,444...1,459,771
Ensembl chr 9:1,447,447...1,459,771
JBrowse link
G Lrp6 LDL receptor related protein 6 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:25741868 NCBI chr 4:167,266,581...167,400,155
Ensembl chr 4:167,270,353...167,400,497
JBrowse link
G Lrrc74b leucine rich repeat containing 74B ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:25741868 NCBI chr11:83,450,588...83,468,906
Ensembl chr11:83,450,624...83,468,922
JBrowse link
G Lztr1 leucine-zipper-like transcription regulator 1 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:24362817 PMID:25335493 PMID:25480913 PMID:25741868 PMID:25795793 More... NCBI chr11:83,487,717...83,503,896
Ensembl chr11:83,487,717...83,503,633
JBrowse link
G Macf1 microtubule-actin crosslinking factor 1 ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chr 5:135,623,729...135,949,097
Ensembl chr 5:135,623,742...135,945,905
JBrowse link
G Mapk1 mitogen activated protein kinase 1 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:25741868 PMID:32721402 NCBI chr11:83,957,813...84,023,629
Ensembl chr11:83,957,813...84,023,616
JBrowse link
G Mcam melanoma cell adhesion molecule ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:44,479,391...44,487,575
Ensembl chr 8:44,479,376...44,487,571
JBrowse link
G Mcph1 microcephalin 1 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:25741868 PMID:26467025 PMID:28492532 PMID:32714618 NCBI chr16:71,021,855...71,224,067
Ensembl chr16:71,024,588...71,224,122
JBrowse link
G Med15 mediator complex subunit 15 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:25741868 NCBI chr11:83,280,722...83,356,006
Ensembl chr11:83,280,762...83,355,362
JBrowse link
G Med24 mediator complex subunit 24 ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chr10:83,664,609...83,702,315
Ensembl chr10:83,664,609...83,690,123
JBrowse link
G Mfn2 mitofusin 2 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:15064763 PMID:16437557 PMID:16714318 PMID:16835246 PMID:17215403 More... NCBI chr 5:158,304,285...158,335,502
Ensembl chr 5:158,304,287...158,335,342
JBrowse link
G Mfrp membrane frizzled-related protein ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:44,445,636...44,450,859
Ensembl chr 8:44,445,697...44,450,859
JBrowse link
G Mir100 microRNA 100 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:41,901,225...41,901,304
Ensembl chr 8:41,901,225...41,901,304
JBrowse link
G Mir125b1 microRNA 125b-1 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:41,952,966...41,953,052
Ensembl chr 8:41,952,966...41,953,052
JBrowse link
G Mir1306 microRNA 1306 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:25741868 NCBI chr11:82,709,651...82,709,723
Ensembl chr11:82,709,637...82,709,719
JBrowse link
G Mir185 microRNA 185 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:25741868 NCBI chr11:82,664,716...82,664,795
Ensembl chr11:82,664,716...82,664,795
JBrowse link
G Mpzl2 myelin protein zero-like 2 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:45,348,285...45,359,298
Ensembl chr 8:45,348,285...45,359,298
JBrowse link
G Mpzl3 myelin protein zero-like 3 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:45,360,475...45,380,662
Ensembl chr 8:45,349,054...45,380,662
JBrowse link
G Mrpl40 mitochondrial ribosomal protein L40 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:25741868 NCBI chr11:82,133,398...82,139,234
Ensembl chr11:82,133,398...82,139,233
JBrowse link
G Msantd2 Myb/SANT DNA binding domain containing 2 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:37,200,890...37,234,691
Ensembl chr 8:37,200,260...37,234,476
JBrowse link
G Mta3 metastasis associated 1 family, member 3 ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chr 6:10,867,028...10,987,221
Ensembl chr 6:10,867,011...10,986,883
JBrowse link
G Mtfmt mitochondrial methionyl-tRNA formyltransferase ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:21907147 PMID:22499348 PMID:23499752 PMID:24088041 PMID:24123792 More... NCBI chr 8:65,953,787...65,971,841
Ensembl chr 8:65,953,767...65,971,841
JBrowse link
G Myh7b myosin heavy chain 7B ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chr 3:144,076,911...144,122,714
Ensembl chr 3:144,098,190...144,122,084
JBrowse link
G Myh8 myosin heavy chain 8 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:25741868 NCBI chr10:51,963,510...51,993,103
Ensembl chr10:51,963,510...51,993,232
JBrowse link
G N4bp2l2 NEDD4 binding protein 2-like 2 ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chr12:137,342...200,294
Ensembl chr12:103,590...197,784
JBrowse link
G Nectin1 nectin cell adhesion molecule 1 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:44,101,776...44,164,863
Ensembl chr 8:44,101,776...44,189,787
JBrowse link
G Nfrkb nuclear factor related to kappa B binding protein ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:29,831,802...29,863,360
Ensembl chr 8:29,831,812...29,863,359
JBrowse link
G Nherf4 NHERF family PDZ scaffold protein 4 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:44,584,390...44,588,838
Ensembl chr 8:44,584,390...44,588,860
JBrowse link
G Nlrx1 NLR family member X1 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:44,588,476...44,606,678
Ensembl chr 8:44,590,048...44,606,484
JBrowse link
G 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 chr 5:57,883,171...57,901,590
Ensembl chr 5:57,883,171...57,901,580
JBrowse link
G Nrgn neurogranin ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:37,255,462...37,263,659
Ensembl chr 8:37,256,930...37,257,516
JBrowse link
G Nrxn3 neurexin 3 ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chr 6:107,641,760...109,272,849
Ensembl chr 6:107,641,780...109,272,044
JBrowse link
G Nuf2 NUF2 component of NDC80 kinetochore complex ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:25741868 PMID:33721060 NCBI chr13:81,693,675...81,722,765
Ensembl chr13:81,693,598...81,722,766
JBrowse link
G Nxpe2 neurexophilin and PC-esterase domain family, member 2 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:48,661,708...48,695,555
Ensembl chr 8:48,661,708...48,698,035
JBrowse link
G Nxpe4 neurexophilin and PC-esterase domain family member 4 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:48,502,697...48,744,101
Ensembl chr 8:48,722,440...48,744,100
JBrowse link
G Oaf out at first homolog ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:43,594,362...43,612,334
Ensembl chr 8:43,594,363...43,612,334
JBrowse link
G Obscn obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chr10:43,774,113...43,919,718
Ensembl chr10:43,789,293...43,919,723
JBrowse link
G Obsl1 obscurin like cytoskeletal adaptor 1 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:19481195 PMID:25741868 NCBI chr 9:76,967,802...76,993,565
Ensembl chr 9:76,974,253...76,993,560
JBrowse link
G Olr1271 olfactory receptor 1271 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:39,127,409...39,131,889
Ensembl chr 8:39,127,352...39,131,900
JBrowse link
G Or10g9 olfactory receptor family 10 subfamily G member 9 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:40,352,436...40,353,371
Ensembl chr 8:40,352,436...40,353,371
JBrowse link
G Or10g9b olfactory receptor family 10 subfamily G member 9B ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:40,358,211...40,359,143
Ensembl chr 8:40,357,714...40,361,692
JBrowse link
G Or10s1 olfactory receptor family 10 subfamily S member 1 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:40,377,018...40,378,068
Ensembl chr 8:40,377,103...40,378,068
JBrowse link
G Or4d5 olfactory receptor family 4 subfamily D member 5 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:40,423,865...40,424,809
Ensembl chr 8:40,423,865...40,424,809
JBrowse link
G Or6x1 olfactory receptor family 6 subfamily X member 1 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:40,538,157...40,539,095
Ensembl chr 8:40,533,033...40,541,586
JBrowse link
G Or8a1b olfactory receptor family 8 subfamily A member 1B ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:37,434,903...37,435,832
Ensembl chr 8:37,434,551...37,439,746
JBrowse link
G Or8b12 olfactory receptor family 8 subfamily B member 12 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:37,479,706...37,480,638
Ensembl chr 8:37,478,794...37,481,315
JBrowse link
G Or8b3 olfactory receptor family 8 subfamily B member 3 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:38,521,915...38,522,856
Ensembl chr 8:38,520,758...38,522,936
JBrowse link
G Or8b4 olfactory receptor family 8 subfamily B member 4 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:37,720,158...37,721,087 JBrowse link
G Or8b8 olfactory receptor family 8 subfamily B member 8 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:37,693,578...37,694,510
Ensembl chr 8:37,693,499...37,694,547
JBrowse link
G Or8d4 olfactory receptor family 8 subfamily D member 4 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:40,469,997...40,470,932
Ensembl chr 8:40,469,997...40,470,932
JBrowse link
G Or8g30 olfactory receptor family 8 subfamily G member 30 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:39,613,311...39,614,246
Ensembl chr 8:39,613,126...39,618,924
JBrowse link
G Orc1 origin recognition complex, subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21358633 NCBI chr 5:123,324,273...123,348,375
Ensembl chr 5:123,324,315...123,348,375
JBrowse link
G Osbp oxysterol binding protein ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chr 1:208,888,697...208,918,511
Ensembl chr 1:208,887,895...208,918,506
JBrowse link
G P2rx6 purinergic receptor P2X 6 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:25741868 NCBI chr11:83,439,922...83,450,449
Ensembl chr11:83,439,924...83,450,481
JBrowse link
G Pafah1b2 platelet-activating factor acetylhydrolase 1b, catalytic subunit 2 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:46,260,069...46,312,073
Ensembl chr 8:46,261,064...46,279,833
JBrowse link
G Panx3 pannexin 3 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:37,366,758...37,377,640
Ensembl chr 8:37,366,862...37,377,640
JBrowse link
G Pate1 prostate and testis expressed 1 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:34,048,617...34,050,848
Ensembl chr 8:34,048,617...34,050,848
JBrowse link
G Pate2 prostate and testis expressed 2 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:34,019,123...34,026,850
Ensembl chr 8:34,024,114...34,050,517
JBrowse link
G Pate3 prostate and testis expressed 3 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:34,014,164...34,016,175
Ensembl chr 8:34,014,164...34,016,175
JBrowse link
G Pate4 prostate and testis expressed 4 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:33,988,812...33,991,552
Ensembl chr 8:33,988,812...33,991,552
JBrowse link
G Pcsk1 proprotein convertase subtilisin/kexin type 1 ISO RGD PMID:12145326 RGD:737721 NCBI chr 2:4,395,543...4,442,434
Ensembl chr 2:4,395,543...4,442,434
JBrowse link
G Pcsk7 proprotein convertase subtilisin/kexin type 7 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:46,202,079...46,224,699
Ensembl chr 8:46,202,131...46,224,705
JBrowse link
G Pdzrn3 PDZ domain containing RING finger 3 ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chr 4:133,770,736...133,996,959
Ensembl chr 4:133,770,736...133,996,959
JBrowse link
G Phf20 PHD finger protein 20 ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chr 3:144,710,253...144,816,696
Ensembl chr 3:144,710,353...144,814,439
JBrowse link
G Phldb1 pleckstrin homology-like domain, family B, member 1 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:45,003,538...45,051,541
Ensembl chr 8:45,003,538...45,051,522
JBrowse link
G Pi4ka phosphatidylinositol 4-kinase alpha ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:25741868 NCBI chr11:83,609,136...83,726,876
Ensembl chr11:83,609,069...83,724,080
JBrowse link
G Pik3c2a phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:31034465 NCBI chr 1:170,577,942...170,684,353
Ensembl chr 1:170,577,942...170,683,472
JBrowse link
G Pknox2 PBX/knotted 1 homeobox 2 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:36,600,633...36,863,131
Ensembl chr 8:36,600,636...36,790,940
JBrowse link
G Plk4 polo-like kinase 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25344692 NCBI chr 2:123,802,512...123,820,942
Ensembl chr 2:123,802,512...123,820,942
JBrowse link
G Plxna3 plexin A3 ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chr  X:152,115,699...152,131,608
Ensembl chr  X:152,115,819...152,131,603
JBrowse link
G Pogz pogo transposable element derived with ZNF domain ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chr 2:182,394,269...182,440,711
Ensembl chr 2:182,380,768...182,440,707
JBrowse link
G Polr2e RNA polymerase II, I and III subunit E ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chr 7:9,666,695...9,670,638
Ensembl chr 7:9,666,716...9,670,643
JBrowse link
G Polr3gl RNA polymerase III subunit GL ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:31089205 NCBI chr 2:184,111,570...184,129,200
Ensembl chr 2:184,112,510...184,129,114
JBrowse link
G Pou2f3 POU class 2 homeobox 3 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:43,495,408...43,577,795
Ensembl chr 8:43,495,527...43,577,795
JBrowse link
G Prdm10 PR/SET domain 10 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:29,724,011...29,827,757
Ensembl chr 8:29,724,245...29,826,080
JBrowse link
G Prkg2 protein kinase cGMP-dependent 2 IAGP DNA:deletion:cds (rat) RGD PMID:15466490 PMID:19149413 RGD:150429792, RGD:150429793 NCBI chr14:10,559,882...10,668,479
Ensembl chr14:10,559,882...10,666,888
JBrowse link
G Prmt7 protein arginine methyltransferase 7 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:25741868 PMID:28492532 NCBI chr19:34,110,724...34,161,531
Ensembl chr19:34,110,747...34,162,577
JBrowse link
G Psmg2 proteasome assembly chaperone 2 ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chr18:61,208,669...61,227,671
Ensembl chr18:61,208,678...61,259,816
JBrowse link
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:11704759 PMID:11992261 PMID:12161469 PMID:12634870 PMID:12717436 More... NCBI chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925
JBrowse link
G Ptpru protein tyrosine phosphatase, receptor type, U ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chr 5:143,950,542...144,024,791
Ensembl chr 5:143,950,965...144,024,768
JBrowse link
G Pus3 pseudouridine synthase 3 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:33,910,461...33,918,716
Ensembl chr 8:33,911,357...33,918,714
JBrowse link
G Pygb glycogen phosphorylase B ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chr 3:139,611,724...139,658,521
Ensembl chr 3:139,611,749...139,663,553
JBrowse link
G Ranbp1 RAN binding protein 1 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:25741868 NCBI chr11:82,742,603...82,750,836
Ensembl chr11:82,742,600...82,750,838
JBrowse link
G Rasa3 RAS p21 protein activator 3 ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chr16:75,855,360...75,969,349
Ensembl chr16:75,855,265...75,970,804
JBrowse link
G Recql RecQ like helicase ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:25741868 NCBI chr 4:175,308,337...175,332,965
Ensembl chr 4:175,304,117...175,332,945
JBrowse link
G Ret ret proto-oncogene ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:2660074 PMID:3078962 PMID:7536460 PMID:7824936 PMID:7845675 More... NCBI chr 4:151,325,969...151,368,176
Ensembl chr 4:151,326,431...151,368,176
JBrowse link
G Rnf214 ring finger protein 214 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:46,166,269...46,202,048
Ensembl chr 8:46,166,598...46,201,576
JBrowse link
G Rnf26 ring finger protein 26 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:44,454,551...44,456,745
Ensembl chr 8:44,454,292...44,457,331
JBrowse link
G Rnf31 ring finger protein 31 ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chr15:29,083,047...29,095,328
Ensembl chr15:29,083,631...29,101,915
JBrowse link
G Robo1 roundabout guidance receptor 1 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:25410734 NCBI chr11:10,580,863...11,621,672
Ensembl chr11:10,580,908...11,620,203
JBrowse link
G Robo3 roundabout guidance receptor 3 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:37,133,542...37,151,674
Ensembl chr 8:37,133,916...37,151,315
JBrowse link
G Robo4 roundabout guidance receptor 4 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:37,119,966...37,133,887
Ensembl chr 8:37,119,988...37,132,519
JBrowse link
G Ror2 receptor tyrosine kinase-like orphan receptor 2 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:25741868 PMID:28492532 PMID:31680123 NCBI chr17:11,972,830...12,148,152
Ensembl chr17:11,972,830...12,148,152
JBrowse link
G Ros1 ROS proto-oncogene 1 , receptor tyrosine kinase ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chr20:31,432,636...31,583,998
Ensembl chr20:31,432,637...31,583,865
JBrowse link
G Rps25 ribosomal protein s25 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:44,733,623...44,735,999
Ensembl chr 8:44,733,029...44,737,271
JBrowse link
G Rpusd4 RNA pseudouridine synthase D4 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:33,617,384...33,626,873
Ensembl chr 8:33,617,379...33,626,873
JBrowse link
G Rtn4r reticulon 4 receptor ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:25741868 NCBI chr11:82,844,585...82,869,012
Ensembl chr11:82,844,309...82,869,466
JBrowse link
G Runx1t1 RUNX1 partner transcriptional co-repressor 1 ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chr 5:27,187,674...27,338,070
Ensembl chr 5:27,187,551...27,335,592
JBrowse link
G Ryr1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:84,292,578...84,423,799
Ensembl chr 1:84,292,578...84,423,812
JBrowse link
G Sbds Sbds, ribosome maturation factor ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:12496757 PMID:14749921 PMID:15284109 PMID:15769891 PMID:15860664 More... NCBI chr12:26,420,410...26,429,650
Ensembl chr12:26,420,414...26,429,649
JBrowse link
G Sc5d sterol-C5-desaturase ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:42,629,649...42,641,257
Ensembl chr 8:42,632,672...42,641,273
JBrowse link
G Scarf2 scavenger receptor class F, member 2 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:25741868 NCBI chr11:83,175,956...83,187,415
Ensembl chr11:83,175,963...83,187,348
JBrowse link
G Scn2b sodium voltage-gated channel beta subunit 2 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:45,425,629...45,437,765
Ensembl chr 8:45,425,629...45,437,765
JBrowse link
G Scn3b sodium voltage-gated channel beta subunit 3 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:40,630,372...40,652,869
Ensembl chr 8:40,630,455...40,652,868
JBrowse link
G Scn4b sodium voltage-gated channel beta subunit 4 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:45,446,580...45,462,294
Ensembl chr 8:45,446,215...45,462,292
JBrowse link
G Scube3 signal peptide, CUB domain and EGF like domain containing 3 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:25741868 PMID:33308444 NCBI chr20:6,199,182...6,231,100
Ensembl chr20:6,199,182...6,228,584
JBrowse link
G Septin5 septin 5 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:25741868 NCBI chr11:82,373,601...82,379,393
Ensembl chr11:82,369,754...82,379,393
JBrowse link
G Serpind1 serpin family D member 1 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:25741868 NCBI chr11:83,664,517...83,675,593
Ensembl chr11:83,664,518...83,675,519
JBrowse link
G Siae sialic acid acetylesterase ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:37,318,724...37,354,004
Ensembl chr 8:37,318,747...37,353,996
JBrowse link
G Sidt2 SID1 transmembrane family, member 2 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:46,232,379...46,248,913
Ensembl chr 8:46,232,383...46,248,700
JBrowse link
G Sik3 SIK family kinase 3 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:46,312,253...46,522,444
Ensembl chr 8:46,311,989...46,522,444
JBrowse link
G Sin3a SIN3 transcription regulator family member A ISO CTD Direct Evidence: marker/mechanism CTD PMID:27399968 NCBI chr 8:57,481,539...57,536,195
Ensembl chr 8:57,481,573...57,536,192
JBrowse link
G Slc25a1 solute carrier family 25 member 1 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:25741868 NCBI chr11:83,055,764...83,058,781
Ensembl chr11:83,055,748...83,058,781
JBrowse link
G Slc37a2 solute carrier family 37 member 2 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:36,945,787...36,971,748
Ensembl chr 8:36,946,930...36,971,482
JBrowse link
G Slc37a4 solute carrier family 37 member 4 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:44,723,216...44,729,301
Ensembl chr 8:44,723,339...44,729,301
JBrowse link
G Slc38a3 solute carrier family 38, member 3 ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chr 8:108,323,889...108,339,959
Ensembl chr 8:108,323,894...108,339,988
JBrowse link
G Slc7a4 solute carrier family 7, member 4 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:25741868 NCBI chr11:83,435,093...83,439,078
Ensembl chr11:83,435,211...83,438,881
JBrowse link
G Slc7a8 solute carrier family 7 member 8 ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chr15:28,183,013...28,242,717
Ensembl chr15:28,183,015...28,242,717
JBrowse link
G Smarca5 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5 ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chr19:27,271,918...27,304,594
Ensembl chr19:27,271,148...27,304,594
JBrowse link
G Snap29 synaptosome associated protein 29 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:25741868 NCBI chr11:83,578,479...83,608,953
Ensembl chr11:83,578,489...83,608,958
JBrowse link
G Snx19 sorting nexin 19 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:28,829,881...28,867,600
Ensembl chr 8:28,829,886...28,867,061
JBrowse link
G Sorl1 sortilin related receptor 1 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:42,341,704...42,504,435
Ensembl chr 8:42,341,704...42,504,513
JBrowse link
G 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 chr 6:14,533,870...14,613,348
Ensembl chr 6:14,533,360...14,611,107
JBrowse link
G Spa17 sperm autoantigenic protein 17 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:37,307,432...37,318,645
Ensembl chr 8:37,307,557...37,318,639
JBrowse link
G Srpra SRP receptor subunit alpha ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:33,560,365...33,566,458
Ensembl chr 8:33,560,348...33,566,470
JBrowse link
G Srpx sushi-repeat-containing protein, X-linked ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chr  X:12,676,984...12,751,296
Ensembl chr  X:12,566,645...12,747,882
JBrowse link
G St14 ST14 transmembrane serine protease matriptase ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:29,540,805...29,581,704
Ensembl chr 8:29,540,811...29,581,517
JBrowse link
G St3gal4 ST3 beta-galactoside alpha-2,3-sialyltransferase 4 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:33,415,666...33,465,365
Ensembl chr 8:33,415,671...33,524,389
JBrowse link
G Stat1 signal transducer and activator of transcription 1 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:22730530 PMID:23534974 PMID:23541320 PMID:23709754 PMID:24239102 More... NCBI chr 9:49,419,561...49,459,969
Ensembl chr 9:49,419,340...49,588,540
JBrowse link
G Stt3a STT3 oligosaccharyltransferase complex catalytic subunit A ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:36,443,623...36,483,111
Ensembl chr 8:36,446,788...36,483,293
JBrowse link
G Sytl5 synaptotagmin-like 5 ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chr  X:12,775,529...13,030,134
Ensembl chr  X:12,788,698...13,030,175
JBrowse link
G Tagln transgelin ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:46,224,939...46,230,413
Ensembl chr 8:46,222,472...46,230,668
JBrowse link
G Tango2 transport and golgi organization 2 homolog ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:25741868 NCBI chr11:82,645,978...82,692,574
Ensembl chr11:82,645,974...82,692,574
JBrowse link
G Tbce tubulin folding cofactor E ISO Kenny-Caffey syndrome, OMIM:244460 RGD PMID:12389028 RGD:1599303 NCBI chr17:51,290,143...51,336,090
Ensembl chr17:51,290,202...51,336,089
JBrowse link
G Tbcel tubulin folding cofactor E-like ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:42,795,648...42,854,552
Ensembl chr 8:42,796,730...42,854,552
JBrowse link
G Tbrg1 transforming growth factor beta regulator 1 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:37,355,274...37,362,933
Ensembl chr 8:37,354,658...37,362,930
JBrowse link
G Tbx1 T-box transcription factor 1 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:25741868 NCBI chr11:82,409,275...82,419,058
Ensembl chr11:82,409,275...82,418,380
JBrowse link
G Tecta tectorin alpha ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:42,707,962...42,779,726
Ensembl chr 8:42,707,962...42,779,707
JBrowse link
G Tg thyroglobulin treatment ISO
IAGP
CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:24582622 PMID:16365524 PMID:10760744 RGD:150429798, RGD:13605608 NCBI chr 7:98,418,293...98,603,210
Ensembl chr 7:98,418,293...98,603,210
JBrowse link
G Tgrdw thyroglobulin; rdw mutant treatment IAGP RGD PMID:10760744 PMID:16365524 RGD:13605608, RGD:150429798
G Thap7 THAP domain containing 7 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:25741868 NCBI chr11:83,482,958...83,486,136
Ensembl chr11:83,483,037...83,486,436
JBrowse link
G Thy1 Thy-1 cell surface antigen ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:44,389,495...44,394,688
Ensembl chr 8:44,389,513...44,394,659
JBrowse link
G Tirap TIR domain containing adaptor protein ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:33,531,724...33,548,508
Ensembl chr 8:33,531,725...33,547,432
JBrowse link
G Tlcd5 TLC domain containing 5 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:43,481,388...43,486,288
Ensembl chr 8:43,479,016...43,486,290
JBrowse link
G Tmem218 transmembrane protein 218 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:36,924,553...36,940,564
Ensembl chr 8:36,924,585...36,939,927
JBrowse link
G Tmem225 transmembrane protein 225 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:40,497,483...40,500,041
Ensembl chr 8:40,497,483...40,500,041
JBrowse link
G Tmem25 transmembrane protein 25 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:45,107,116...45,112,657
Ensembl chr 8:45,107,121...45,116,389
JBrowse link
G Tmem45b transmembrane protein 45b ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:29,865,276...29,910,453
Ensembl chr 8:29,865,278...29,910,453
JBrowse link
G Tmprss13 transmembrane serine protease 13 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:45,625,759...45,653,943
Ensembl chr 8:45,625,626...45,653,938
JBrowse link
G Tmprss4 transmembrane serine protease 4 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:45,475,819...45,508,409
Ensembl chr 8:45,476,053...45,508,409
JBrowse link
G Tp53 tumor protein p53 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:1631137 PMID:1978757 PMID:8099841 PMID:8425176 PMID:8527048 More... NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
JBrowse link
G Tpo thyroid peroxidase ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:25741868 NCBI chr 6:46,698,402...46,768,199
Ensembl chr 6:46,698,414...46,768,199
JBrowse link
G Traip TRAF-interacting protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:26595769 NCBI chr 8:108,641,860...108,661,640
Ensembl chr 8:108,641,852...108,661,638
JBrowse link
G Trappc11 trafficking protein particle complex subunit 11 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:28492532 NCBI chr16:44,733,169...44,779,324
Ensembl chr16:44,733,169...44,779,322
JBrowse link
G Trappc4 trafficking protein particle complex subunit 4 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:44,729,458...44,733,285
Ensembl chr 8:44,725,331...44,733,491
JBrowse link
G Treh trehalase ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:44,990,182...45,003,881
Ensembl chr 8:44,990,182...45,003,540
JBrowse link
G Trim29 tripartite motif-containing 29 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:43,682,221...43,706,992
Ensembl chr 8:43,682,221...43,706,992
JBrowse link
G Trim37 tripartite motif-containing 37 ISO Mulibrey Nanism, OMIM:253250 RGD PMID:10888877 RGD:1599667 NCBI chr10:71,943,384...72,075,567
Ensembl chr10:71,943,375...72,075,558
JBrowse link
G Trmt2a tRNA methyltransferase 2 homolog A ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:25741868 NCBI chr11:82,737,689...82,742,423
Ensembl chr11:82,737,689...82,742,336
JBrowse link
G Tshr thyroid stimulating hormone receptor IMP RGD PMID:29507327 RGD:150521601 NCBI chr 6:110,341,585...110,475,297
Ensembl chr 6:110,341,581...110,474,538
JBrowse link
G Tshrem1Mlit thyroid stimulating hormone receptor; CRISPR/Cas9 induced mutant 1, Mlit IMP RGD PMID:29507327 RGD:150521601
G Tssk2 testis-specific serine kinase 2 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:25741868 NCBI chr11:83,086,578...83,087,933 JBrowse link
G Tstd3 thiosulfate sulfurtransferase like domain containing 3 ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chr 5:35,294,652...35,304,101
Ensembl chr 5:35,294,645...35,304,101
JBrowse link
G Ttc36 tetratricopeptide repeat domain 36 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:45,112,737...45,116,345 JBrowse link
G Ttn titin ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:23861362 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 3:61,652,432...61,924,912
Ensembl chr 3:61,652,439...61,924,741
JBrowse link
G Txnrd2 thioredoxin reductase 2 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:25741868 NCBI chr11:82,519,996...82,568,156
Ensembl chr11:82,519,999...82,568,156
JBrowse link
G Ubash3b ubiquitin associated and SH3 domain containing, B ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:41,385,419...41,532,248
Ensembl chr 8:41,388,341...41,532,201
JBrowse link
G Ube4a ubiquitination factor E4A ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:45,236,022...45,278,129
Ensembl chr 8:45,236,026...45,278,038
JBrowse link
G Ubr4 ubiquitin protein ligase E3 component n-recognin 4 ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chr 5:151,635,825...151,743,931
Ensembl chr 5:151,635,868...151,743,784
JBrowse link
G Ufd1 ubiquitin recognition factor in ER associated degradation 1 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:25741868 NCBI chr11:82,161,618...82,185,107
Ensembl chr11:82,161,619...82,185,087
JBrowse link
G Upk2 uroplakin 2 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:44,779,198...44,781,190
Ensembl chr 8:44,779,198...44,781,190
JBrowse link
G Ush2a usherin ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:9624053 PMID:10090909 PMID:10729113 PMID:10909849 PMID:11402400 More... NCBI chr13:99,837,445...100,503,935
Ensembl chr13:99,837,445...100,503,922
JBrowse link
G Usp2 ubiquitin specific peptidase 2 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:44,411,457...44,439,668
Ensembl chr 8:44,411,607...44,438,331
JBrowse link
G Usp24 ubiquitin specific peptidase 24 ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chr 5:121,080,687...121,210,321
Ensembl chr 5:121,080,470...121,210,311
JBrowse link
G Usp45 ubiquitin specific peptidase 45 ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chr 5:35,318,621...35,392,090
Ensembl chr 5:35,318,635...35,389,420
JBrowse link
G Usp51 ubiquitin specific peptidase 51 ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chr  X:18,374,940...18,381,472
Ensembl chr  X:18,376,930...18,379,888
JBrowse link
G Vdr vitamin D receptor treatment ISO DNA:polymorphism:promoter:rs11568820(human)
DNA:SNP:promoter: rs11568820(human)
RGD PMID:24015038 PMID:26400282 RGD:13217415, RGD:11353416 NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677
JBrowse link
G Vps11 VPS11 core subunit of CORVET and HOPS complexes ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:44,683,768...44,698,572
Ensembl chr 8:44,684,127...44,698,568
JBrowse link
G Vps13b vacuolar protein sorting 13 homolog B ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:15154116 PMID:17990063 PMID:25525159 PMID:25741868 PMID:28492532 More... NCBI chr 7:66,557,862...67,128,429
Ensembl chr 7:66,558,471...67,128,429
JBrowse link
G Vsig2 V-set and immunoglobulin domain containing 2 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:37,250,107...37,255,150
Ensembl chr 8:37,250,107...37,255,150
JBrowse link
G Vwa5a von Willebrand factor A domain containing 5A ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:38,815,176...38,848,674
Ensembl chr 8:38,815,210...38,839,112
JBrowse link
G Vwce von Willebrand factor C and EGF domains ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chr 1:207,280,714...207,327,215
Ensembl chr 1:207,282,356...207,312,986
JBrowse link
G Wdr6 WD repeat domain 6 ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chr 8:109,268,079...109,274,504
Ensembl chr 8:109,268,079...109,274,499
JBrowse link
G Wdr62 WD repeat domain 62 ISO RGD PMID:24875059 RGD:11541053 NCBI chr 1:85,491,531...85,530,643
Ensembl chr 1:85,491,533...85,530,637
JBrowse link
G Wnt4 Wnt family member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17505543 NCBI chr 5:149,513,573...149,535,415
Ensembl chr 5:149,514,018...149,532,859
JBrowse link
G Wwox WW domain-containing oxidoreductase IAGP DNA:deletion:cds:exon 9, 13bp nucleotides 1190-1202
compared to wild type and heterozygotes
RGD PMID:19500159 PMID:17803050 PMID:18676360 RGD:150429979, RGD:150429978, RGD:150429974 NCBI chr19:42,432,141...43,360,278
Ensembl chr19:42,432,152...43,359,391
JBrowse link
G Wwoxlde WW domain-containing oxidoreductase; lde mutant IAGP compared to wild type and heterozygotes RGD PMID:19500159 PMID:18676360 PMID:17803050 RGD:150429979, RGD:150429974, RGD:150429978
G Xdh xanthine dehydrogenase ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:21,530,463...21,592,172
Ensembl chr 6:21,530,113...21,592,268
JBrowse link
G Zbed4 zinc finger, BED-type containing 4 ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chr 7:119,846,374...119,883,495
Ensembl chr 7:119,843,169...119,883,899
JBrowse link
G Zbtb44 zinc finger and BTB domain containing 44 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:29,466,055...29,524,027
Ensembl chr 8:29,466,352...29,518,163
JBrowse link
G Zdhhc8 zinc finger DHHC-type palmitoyltransferase 8 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:25741868 NCBI chr11:82,755,110...82,769,280
Ensembl chr11:82,755,143...82,767,734
JBrowse link
G Zfc3h1 zinc finger, C3H1-type containing ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chr 7:51,008,251...51,064,666
Ensembl chr 7:51,007,984...51,064,661
JBrowse link
G Zfhx3 zinc finger homeobox 3 ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chr19:36,257,196...36,886,104
Ensembl chr19:36,630,254...36,881,771
JBrowse link
G Zfp202 zinc finger protein 202 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:40,542,665...40,567,397
Ensembl chr 8:40,542,701...40,563,118
JBrowse link
G Zfp446 zinc finger protein 446 ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chr 1:73,594,953...73,612,685
Ensembl chr 1:73,601,759...73,612,685
JBrowse link
G Zfp449 zinc finger protein 449 ISO ClinVar Annotator: match by term: Short stature ClinVar NCBI chr  X:134,120,820...134,140,921
Ensembl chr  X:134,122,636...134,140,924
JBrowse link
G Zim1 zinc finger, imprinted 1 ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:25741868 NCBI chr 1:67,132,076...67,157,843
Ensembl chr 1:67,132,147...67,153,761
JBrowse link
G Zpr1 ZPR1 zinc finger ISO ClinVar Annotator: match by term: Short stature ClinVar PMID:32581362 NCBI chr 8:46,564,898...46,574,719
Ensembl chr 8:46,565,146...46,574,719
JBrowse link
3-M syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cul7 cullin 7 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: 3-M syndrome | ClinVar Annotator: match by term: Yakut short stature syndrome
CTD
ClinVar
PMID:16142236 PMID:17675530 PMID:19225462 PMID:21548126 PMID:23900270 More... NCBI chr 9:14,319,102...14,333,035
Ensembl chr 9:14,319,108...14,332,741
JBrowse link
G Obsl1 obscurin like cytoskeletal adaptor 1 ISO ClinVar Annotator: match by term: 3-M syndrome ClinVar NCBI chr 9:76,967,802...76,993,565
Ensembl chr 9:76,974,253...76,993,560
JBrowse link
Aarskog syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgd1 FYVE, RhoGEF and PH domain containing 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Aarskog syndrome
CTD
ClinVar
PMID:4146757 PMID:7954831 PMID:10930571 PMID:11093277 PMID:11940089 More... NCBI chr  X:20,023,746...20,066,730
Ensembl chr  X:20,023,746...20,066,566
JBrowse link
G Tsr2 TSR2, ribosome maturation factor ISO ClinVar Annotator: match by term: Aarskog syndrome ClinVar PMID:25741868 NCBI chr  X:20,064,102...20,072,673
Ensembl chr  X:20,064,103...20,072,620
JBrowse link
achondrogenesis type IA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trip11 thyroid hormone receptor interactor 11 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA OMIM
ClinVar
PMID:200899 PMID:2008997 PMID:9536098 PMID:16199547 PMID:17576681 More... NCBI chr 6:120,995,242...121,067,693
Ensembl chr 6:120,998,733...121,067,781
JBrowse link
achondrogenesis type IB term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc26a2 solute carrier family 26 member 2 ISO ClinVar Annotator: match by term: Achondrogenesis Fraccaro type | ClinVar Annotator: match by term: Achondrogenesis, type IB
DNA:mutations:cds:
OMIM
ClinVar
RGD
PMID:7695699 PMID:7923357 PMID:8218237 PMID:8528239 PMID:8571951 More... RGD:11068488 NCBI chr18:54,648,276...54,666,627
Ensembl chr18:54,652,951...54,666,626
JBrowse link
achondrogenesis type II term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col2a1 collagen type II alpha 1 chain ISO ClinVar Annotator: match by term: Achondrogenesis type II | ClinVar Annotator: match by term: Chondrogenesis imperfecta
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:7695699 PMID:7741714 PMID:7752132 PMID:7757081 PMID:7829510 More... NCBI chr 7:129,098,489...129,127,620
Ensembl chr 7:129,098,786...129,127,546
JBrowse link
achondroplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acan aggrecan ISS OMIM:100800 MouseDO NCBI chr 1:132,981,034...133,044,416
Ensembl chr 1:132,981,582...133,043,627
JBrowse link
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: Achondroplasia ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889
JBrowse link
G Fgfr3 fibroblast growth factor receptor 3 severity ISO DNA:missense mutation:cds:p.G380R (human)
ClinVar Annotator: match by term: Achondroplasia | ClinVar Annotator: match by term: Skeleton skin brain syndrome
DNA:mutation:cds:p.K650M(human)
ClinVar
OMIM
RGD
PMID:1908846 PMID:4697848 PMID:7647778 PMID:7649548 PMID:7670477 More... RGD:1598937, RGD:11568054 NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341
JBrowse link
G Nppc natriuretic peptide C ISS OMIM:100800 MouseDO NCBI chr 9:87,320,051...87,324,251
Ensembl chr 9:87,320,051...87,324,251
JBrowse link
G Npr2 natriuretic peptide receptor 2 ISO
ISS
DNA:missense mutation:cds:p.L885R (mouse)
OMIM:100800
MouseDO
RGD
PMID:15722353 RGD:1580771 NCBI chr 5:57,883,171...57,901,590
Ensembl chr 5:57,883,171...57,901,580
JBrowse link
G Pthlh parathyroid hormone-like hormone ISS OMIM:100800 MouseDO NCBI chr 4:180,188,792...180,199,847
Ensembl chr 4:180,188,792...180,199,847
JBrowse link
G Spred2 sprouty-related, EVH1 domain containing 2 ISS OMIM:100800 MouseDO NCBI chr14:94,226,312...94,248,162
Ensembl chr14:94,148,837...94,249,162
JBrowse link
Achondroplastic Dwarfism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgfr3 fibroblast growth factor receptor 3 ISO ClinVar Annotator: match by term: Achondroplastic dwarfism ClinVar PMID:1908846 PMID:4697848 PMID:7647778 PMID:7670477 PMID:7773297 More... NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341
JBrowse link
acromesomelic dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gdf5 growth differentiation factor 5 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia ClinVar NCBI chr 3:144,454,306...144,458,757
Ensembl chr 3:144,454,338...144,458,612
JBrowse link
G Npr2 natriuretic peptide receptor 2 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia ClinVar PMID:28492532 NCBI chr 5:57,883,171...57,901,590
Ensembl chr 5:57,883,171...57,901,580
JBrowse link
acromesomelic dysplasia, Grebe type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gdf5 growth differentiation factor 5 ISO ClinVar Annotator: match by term: Grebe syndrome
DNA:missense mutation:cds:c.1285T>C (p.C429R)(human)
DNA:missense mutation:cds:c.527T>C(p.L176P)(human)
DNA:insertion mutation:cds:1114insGAGT(human)
OMIM
ClinVar
RGD
PMID:9288098 PMID:12124730 PMID:12900894 PMID:17384641 PMID:25741868 More... RGD:12487346, RGD:12437083, RGD:12437075 NCBI chr 3:144,454,306...144,458,757
Ensembl chr 3:144,454,338...144,458,612
JBrowse link
acromesomelic dysplasia, Hunter-Thompson type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bmpr1b bone morphogenetic protein receptor type 1B ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Acromesomelic dysplasia 2C, Hunter-Thompson type
CTD
ClinVar
PMID:29322508 NCBI chr 2:230,538,252...230,871,077
Ensembl chr 2:230,541,558...230,871,368
JBrowse link
G Gdf5 growth differentiation factor 5 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 2C, Hunter-Thompson type OMIM
ClinVar
PMID:964999 PMID:2703235 PMID:8589725 PMID:17384641 PMID:25741868 More... NCBI chr 3:144,454,306...144,458,757
Ensembl chr 3:144,454,338...144,458,612
JBrowse link
acromesomelic dysplasia, Maroteaux type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Npr2 natriuretic peptide receptor 2 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type OMIM
ClinVar
PMID:9536098 PMID:15146390 PMID:15572448 PMID:16199547 PMID:16384845 More... NCBI chr 5:57,883,171...57,901,590
Ensembl chr 5:57,883,171...57,901,580
JBrowse link
G Spag8 sperm associated antigen 8 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:15146390 PMID:15572448 PMID:16199547 PMID:16384845 PMID:18945719 More... NCBI chr 5:57,901,681...57,903,894
Ensembl chr 5:57,901,682...57,903,894
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
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:15805157 PMID:22374147 PMID:24129431 PMID:25741868 PMID:25758993 More... NCBI chr 2:230,538,252...230,871,077
Ensembl chr 2:230,541,558...230,871,368
JBrowse link
acromesomelic dysplasia-4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prkg2 protein kinase cGMP-dependent 2 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 4 OMIM
ClinVar
PMID:33106379 PMID:34782440 NCBI chr14:10,559,882...10,668,479
Ensembl chr14:10,559,882...10,666,888
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 chr 8:120,640,008...120,667,110
Ensembl chr 8:120,639,995...120,667,111
JBrowse link
G Larp7 La ribonucleoprotein 7, transcriptional regulator ISO ClinVar Annotator: match by term: Alazami syndrome OMIM
ClinVar
PMID:21937992 PMID:22865833 PMID:25741868 PMID:26607181 PMID:28492532 More... NCBI chr 2:215,997,641...216,012,833
Ensembl chr 2:215,997,649...216,012,865
JBrowse link
AMED syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adh5 alcohol dehydrogenase 5 (class III), chi polypeptide ISO ClinVar Annotator: match by term: AMED syndrome, digenic OMIM
ClinVar
PMID:25741868 PMID:33355142 NCBI chr 2:226,975,184...226,987,591
Ensembl chr 2:226,947,466...226,987,591
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 chr12:34,949,549...34,982,527
Ensembl chr12:34,901,219...34,982,521
JBrowse link
anauxetic dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arhgef39 Rho guanine nucleotide exchange factor 39 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 5:57,752,509...57,756,079
Ensembl chr 5:57,752,509...57,756,109
JBrowse link
G Atosb atos homolog B ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 5:57,260,839...57,274,524
Ensembl chr 5:57,260,841...57,268,892
JBrowse link
G Car9 carbonic anhydrase 9 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 5:57,763,234...57,769,838
Ensembl chr 5:57,763,206...57,769,838
JBrowse link
G Ccdc107 coiled-coil domain containing 107 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:8034306 PMID:9156319 PMID:10026268 PMID:11207361 PMID:11940090 More... NCBI chr 5:57,749,502...57,752,920
Ensembl chr 5:57,748,999...57,752,918
JBrowse link
G Ccin calicin ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 5:58,206,676...58,208,563
Ensembl chr 5:58,206,633...58,208,951
JBrowse link
G Ccl19 C-C motif chemokine ligand 19 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 5:56,963,364...56,965,308
Ensembl chr 5:56,963,364...56,965,308
JBrowse link
G Ccl21 C-C motif chemokine ligand 21 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 5:56,980,557...56,981,661
Ensembl chr 5:56,980,558...56,981,686
JBrowse link
G Ccl27 C-C motif chemokine ligand 27 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 5:56,941,402...56,948,511
Ensembl chr 5:56,941,402...56,948,506
JBrowse link
G Cd72 Cd72 molecule ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 5:57,697,361...57,704,980
Ensembl chr 5:57,697,367...57,704,725
JBrowse link
G Clta clathrin, light chain A ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 5:58,244,253...58,263,480
Ensembl chr 5:58,245,442...58,263,472
JBrowse link
G Creb3 cAMP responsive element binding protein 3 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 5:57,817,835...57,823,171
Ensembl chr 5:57,817,832...57,824,390
JBrowse link
G Dnajb5 DnaJ heat shock protein family (Hsp40) member B5 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 5:57,176,840...57,185,492
Ensembl chr 5:57,176,845...57,185,490
JBrowse link
G Fam166b family with sequence similarity 166, member B ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 5:57,675,537...57,680,133
Ensembl chr 5:57,675,462...57,678,611
JBrowse link
G Fam221b family with sequence similarity 221, member B ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 5:57,910,346...57,919,562
Ensembl chr 5:57,910,352...57,919,367
JBrowse link
G Fancg FA complementation group G ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 5:57,230,287...57,240,067
Ensembl chr 5:57,231,685...57,240,029
JBrowse link
G Galt galactose-1-phosphate uridylyltransferase ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 5:56,927,039...56,930,284
Ensembl chr 5:56,926,724...56,930,265
JBrowse link
G Gba2 glucosylceramidase beta 2 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 5:57,822,389...57,834,522
Ensembl chr 5:57,822,389...57,834,072
JBrowse link
G Glipr2 GLI pathogenesis-related 2 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 5:58,170,417...58,200,947
Ensembl chr 5:58,170,425...58,202,272
JBrowse link
G Gne glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 5:58,267,189...58,307,396
Ensembl chr 5:58,267,210...58,307,499
JBrowse link
G Hint2 histidine triad nucleotide binding protein 2 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 5:57,904,613...57,906,868
Ensembl chr 5:57,904,614...57,907,097
JBrowse link
G Hrct1 histidine rich carboxyl terminus 1 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 5:57,982,409...57,983,186
Ensembl chr 5:57,982,470...57,982,790
JBrowse link
G Il11ra1 interleukin 11 receptor subunit alpha 1 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 5:56,931,824...56,941,408
Ensembl chr 5:56,935,516...56,941,408
JBrowse link
G LOC100360821 rCG55159-like ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 5:57,199,931...57,203,964
Ensembl chr 5:57,200,000...57,204,070
JBrowse link
G Msmp microseminoprotein, prostate associated ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 5:57,838,935...57,839,985
Ensembl chr 5:57,838,935...57,839,985
JBrowse link
G Npr2 natriuretic peptide receptor 2 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 5:57,883,171...57,901,590
Ensembl chr 5:57,883,171...57,901,580
JBrowse link
G Or13c7 olfactory receptor family 13 subfamily C member 7 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 5:58,081,150...58,082,109
Ensembl chr 5:58,077,726...58,083,852
JBrowse link
G Or13j1 olfactory receptor family 13 subfamily J member 1 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 5:57,961,391...57,962,329
Ensembl chr 5:57,960,219...57,965,853
JBrowse link
G Phf24 PHD finger protein 24 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 5:57,143,428...57,171,054
Ensembl chr 5:57,142,632...57,168,497
JBrowse link
G Pigo phosphatidylinositol glycan anchor biosynthesis, class O ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 5:57,244,721...57,256,252
Ensembl chr 5:57,245,166...57,254,146
JBrowse link
G Reck reversion-inducing-cysteine-rich protein with kazal motifs ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 5:58,102,915...58,169,513
Ensembl chr 5:58,102,981...58,169,502
JBrowse link
G Rgp1 RGP1 homolog, RAB6A GEF complex partner 1 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 5:57,834,467...57,843,087
Ensembl chr 5:57,834,629...57,843,086
JBrowse link
G Rusc2 RUN and SH3 domain containing 2 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 5:57,628,397...57,675,524
Ensembl chr 5:57,629,904...57,675,524
JBrowse link
G Sit1 signaling threshold regulating transmembrane adaptor 1 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 5:57,740,212...57,741,838
Ensembl chr 5:57,740,218...57,741,838
JBrowse link
G Spaar small regulatory polypeptide of amino acid response ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 5:57,985,569...57,991,972 JBrowse link
G Spag8 sperm associated antigen 8 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 5:57,901,681...57,903,894
Ensembl chr 5:57,901,682...57,903,894
JBrowse link
G Spata31f1 SPATA31 subfamily F member 1 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 5:57,065,739...57,071,880
Ensembl chr 5:57,065,747...57,071,738
JBrowse link
G Spata31f3 SPATA31 subfamily F member 3 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 5:57,087,305...57,093,191
Ensembl chr 5:57,087,320...57,093,164
JBrowse link
G Stoml2 stomatin like 2 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 5:57,256,227...57,259,824
Ensembl chr 5:57,256,220...57,259,920
JBrowse link
G Tesk1 testis associated actin remodelling kinase 1 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 5:57,691,922...57,697,698
Ensembl chr 5:57,691,969...57,697,698
JBrowse link
G Tln1 talin 1 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 5:57,787,670...57,817,900
Ensembl chr 5:57,787,943...57,817,900
JBrowse link
G Tmem8b transmembrane protein 8B ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 5:57,919,473...57,948,419
Ensembl chr 5:57,919,804...57,946,772
JBrowse link
G Tpm2 tropomyosin 2 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 5:57,770,919...57,780,278
Ensembl chr 5:57,770,864...57,779,992
JBrowse link
G Unc13b unc-13 homolog B ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 5:57,288,999...57,504,110
Ensembl chr 5:57,289,227...57,502,926
JBrowse link
G Vcp valosin-containing protein ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 5:57,210,167...57,229,571
Ensembl chr 5:57,210,168...57,229,571
JBrowse link
anauxetic dysplasia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc107 coiled-coil domain containing 107 ISO ClinVar Annotator: match by term: Anauxetic dysplasia 1 ClinVar PMID:8034306 PMID:9156319 PMID:10026268 PMID:11207361 PMID:11940090 More... NCBI chr 5:57,749,502...57,752,920
Ensembl chr 5:57,748,999...57,752,918
JBrowse link
G Pop1 POP1 homolog, ribonuclease P/MRP subunit ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 7:65,705,348...65,733,143
Ensembl chr 7:65,705,368...65,733,141
JBrowse link
anauxetic dysplasia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pop1 POP1 homolog, ribonuclease P/MRP subunit ISO ClinVar Annotator: match by term: Anauxetic dysplasia 2 OMIM
ClinVar
PMID:21455487 PMID:25741868 PMID:27380734 PMID:28067412 PMID:30408610 NCBI chr 7:65,705,348...65,733,143
Ensembl chr 7:65,705,368...65,733,141
JBrowse link
anauxetic dysplasia 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nepro nucleolus and neural progenitor protein ISO ClinVar Annotator: match by term: Anauxetic dysplasia 3 OMIM
ClinVar
PMID:25741868 PMID:26633546 PMID:29620724 PMID:31250547 NCBI chr11:55,958,265...55,970,432
Ensembl chr11:55,958,267...55,970,432
JBrowse link
Atelosteogenesis Type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Flnb filamin B ISO ClinVar Annotator: match by term: Atelosteogenesis type III
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:9536098 PMID:14991055 PMID:17576681 PMID:20301736 PMID:25741868 More... NCBI chr15:16,961,999...17,095,059
Ensembl chr15:16,962,003...17,095,006
JBrowse link
autosomal dominant Robinow syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dvl1 dishevelled segment polarity protein 1 ISO ClinVar Annotator: match by term: Autosomal dominant Robinow syndrome 1 ClinVar PMID:25045061 PMID:25741868 PMID:25817014 PMID:28492532 NCBI chr 5:166,456,989...166,468,733
Ensembl chr 5:166,456,686...166,468,664
JBrowse link
G Dvl3 dishevelled segment polarity protein 3 ISO ClinVar Annotator: match by term: Autosomal dominant Robinow syndrome 1 ClinVar PMID:23806086 PMID:24088041 PMID:25741868 PMID:26924530 NCBI chr11:80,365,446...80,382,641
Ensembl chr11:80,366,117...80,382,462
JBrowse link
G Fzd2 frizzled class receptor 2 ISO ClinVar Annotator: match by term: Autosomal dominant Robinow syndrome 1 ClinVar PMID:25741868 PMID:25759469 PMID:29276006 PMID:30455931 NCBI chr10:87,561,866...87,563,776
Ensembl chr10:87,561,326...87,565,334
JBrowse link
G Ror2 receptor tyrosine kinase-like orphan receptor 2 ISO ClinVar Annotator: match by term: Autosomal dominant Robinow syndrome 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr17:11,972,830...12,148,152
Ensembl chr17:11,972,830...12,148,152
JBrowse link
G Wnt5a Wnt family member 5A ISO ClinVar Annotator: match by term: Autosomal dominant Robinow syndrome 1 OMIM
ClinVar
PMID:5771504 PMID:16602827 PMID:18414213 PMID:19918918 PMID:24716670 More... NCBI chr16:3,695,667...3,718,234
Ensembl chr16:3,697,032...3,718,234
JBrowse link
autosomal dominant Robinow syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chn1 chimerin 1 ISO ClinVar Annotator: match by term: Autosomal dominant Robinow syndrome 2 ClinVar NCBI chr 3:58,509,822...58,676,774
Ensembl chr 3:58,510,536...58,676,490
JBrowse link
G Dvl1 dishevelled segment polarity protein 1 ISO ClinVar Annotator: match by term: Autosomal dominant Robinow syndrome 2 OMIM
ClinVar
PMID:10319206 PMID:23806086 PMID:24088041 PMID:25045061 PMID:25741868 More... NCBI chr 5:166,456,989...166,468,733
Ensembl chr 5:166,456,686...166,468,664
JBrowse link
G Dvl3 dishevelled segment polarity protein 3 ISO ClinVar Annotator: match by term: Autosomal dominant Robinow syndrome 2 ClinVar PMID:29276006 NCBI chr11:80,365,446...80,382,641
Ensembl chr11:80,366,117...80,382,462
JBrowse link
G Fzd2 frizzled class receptor 2 ISO ClinVar Annotator: match by term: Autosomal dominant Robinow syndrome 2 ClinVar PMID:25741868 PMID:25759469 PMID:29276006 PMID:30455931 NCBI chr10:87,561,866...87,563,776
Ensembl chr10:87,561,326...87,565,334
JBrowse link
autosomal dominant Robinow syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dvl3 dishevelled segment polarity protein 3 ISO ClinVar Annotator: match by term: Autosomal dominant Robinow syndrome 3 OMIM
ClinVar
PMID:23806086 PMID:24088041 PMID:25741868 PMID:26924530 NCBI chr11:80,365,446...80,382,641
Ensembl chr11:80,366,117...80,382,462
JBrowse link
G Fzd2 frizzled class receptor 2 ISO ClinVar Annotator: match by term: Autosomal dominant Robinow syndrome 3 ClinVar PMID:29276006 NCBI chr10:87,561,866...87,563,776
Ensembl chr10:87,561,326...87,565,334
JBrowse link
autosomal recessive Robinow syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prickle1 prickle planar cell polarity protein 1 ISS OMIM:268310 MouseDO NCBI chr 7:124,639,142...124,735,027
Ensembl chr 7:124,639,142...124,658,113
JBrowse link
G Ror2 receptor tyrosine kinase-like orphan receptor 2 ISO ClinVar Annotator: match by term: 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
CTD Direct Evidence: marker/mechanism
DNA:missense mutations:exons: c.545G>A (p.C182Y),c.227G>A (p.G76D), c.668G>A (p.C223Y)(human)
DNA:nonsense mutation:cds:p.W749X(mouse)
OMIM
ClinVar
CTD
RGD
PMID:10932186 PMID:10932187 PMID:10986040 PMID:12815588 PMID:15952209 More... RGD:11537348, RGD:11537347, RGD:11535948 NCBI chr17:11,972,830...12,148,152
Ensembl chr17:11,972,830...12,148,152
JBrowse link
Autosomal Recessive Robinow Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nxn nucleoredoxin ISO ClinVar Annotator: match by term: Robinow syndrome, autosomal recessive 2 OMIM
ClinVar
PMID:25741868 PMID:28492532 PMID:29276006 NCBI chr10:61,109,323...61,247,576
Ensembl chr10:61,110,020...61,248,251
JBrowse link
blepharophimosis-intellectual disability syndrome, SBBYS type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kat6b lysine acetyltransferase 6B ISO DNA:mutations:cds:multiple (human)
ClinVar Annotator: match by term: Blepharophimosis - intellectual disability syndrome, SBBYS type
ClinVar
OMIM
RGD
PMID:8055130 PMID:18798845 PMID:21344633 PMID:22077973 PMID:22715153 More... RGD:9588484 NCBI chr15:2,638,885...2,811,977
Ensembl chr15:2,639,200...2,812,316
JBrowse link
G Smarca2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 ISO ClinVar Annotator: match by term: Blepharophimosis - intellectual disability syndrome ClinVar PMID:32694869 NCBI chr 1:224,191,125...224,358,640
Ensembl chr 1:224,191,125...224,358,684
JBrowse link
Boomerang dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Flnb filamin B ISO ClinVar Annotator: match by term: Boomerang dysplasia OMIM
ClinVar
PMID:12955767 PMID:14991055 PMID:17510210 PMID:25741868 PMID:28492532 NCBI chr15:16,961,999...17,095,059
Ensembl chr15:16,962,003...17,095,006
JBrowse link
Brain-Lung-Thyroid Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abhd4 abhydrolase domain containing 4, N-acyl phospholipase B ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:27,697,384...27,716,013
Ensembl chr15:27,704,113...27,716,966
JBrowse link
G Acin1 apoptotic chromatin condensation inducer 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:28,102,112...28,147,001
Ensembl chr15:28,102,112...28,147,001
JBrowse link
G Adcy4 adenylate cyclase 4 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:29,266,280...29,282,153
Ensembl chr15:29,266,287...29,282,108
JBrowse link
G Ajuba ajuba LIM protein ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:28,019,775...28,031,537
Ensembl chr15:28,019,778...28,030,021
JBrowse link
G Akap6 A-kinase anchoring protein 6 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 6:70,184,101...70,624,369
Ensembl chr 6:70,184,175...70,619,738
JBrowse link
G Ang angiogenin ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:24,317,733...24,323,361 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 chr15:28,571,571...28,579,421
Ensembl chr15:28,571,568...28,589,004
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 chr 6:69,133,403...69,174,488
Ensembl chr 6:69,133,373...69,175,496
JBrowse link
G Arf6 ADP-ribosylation factor 6 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 6:87,853,742...87,854,890
Ensembl chr 6:87,840,142...87,874,114
JBrowse link
G Arhgap5 Rho GTPase activating protein 5 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 6:69,975,904...70,039,299
Ensembl chr 6:69,976,214...70,037,660
JBrowse link
G Arhgef40 Rho guanine nucleotide exchange factor 40 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:24,672,645...24,696,510
Ensembl chr15:24,672,763...24,696,510
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 chr 6:72,389,701...72,512,516
Ensembl chr 6:72,389,703...72,512,459
JBrowse link
G Bcl2l2 Bcl2-like 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:28,346,449...28,361,627
Ensembl chr15:28,356,807...28,361,624
JBrowse link
G Brms1l BRMS1 like transcriptional repressor ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 6:73,266,673...73,300,631
Ensembl chr 6:73,266,691...73,300,631
JBrowse link
G C15h14orf119 similar to human chromosome 14 open reading frame 119 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:28,146,368...28,151,422
Ensembl chr15:28,146,333...28,155,180
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 chr15:28,978,440...28,995,865
Ensembl chr15:28,979,007...28,996,225
JBrowse link
G Cbln3 cerebellin 3 precursor ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:29,361,885...29,364,778
Ensembl chr15:29,362,302...29,364,612
JBrowse link
G Cdh24 cadherin 24 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:28,091,578...28,101,330
Ensembl chr15:28,091,637...28,101,340
JBrowse link
G Cebpe CCAAT/enhancer binding protein epsilon ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:28,169,885...28,171,283
Ensembl chr15:28,169,704...28,171,814
JBrowse link
G Cfl2 cofilin 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 6:72,355,664...72,359,709
Ensembl chr 6:72,355,664...72,359,674
JBrowse link
G Chd8 chromodomain helicase DNA binding protein 8 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:24,905,789...24,965,461
Ensembl chr15:24,905,789...24,951,285
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 chr15:29,252,203...29,256,759
Ensembl chr15:29,252,213...29,256,605
JBrowse link
G Clec14a C-type lectin domain containing 14A ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 6:75,881,470...75,884,612
Ensembl chr 6:75,881,473...75,884,612
JBrowse link
G Cma1 chymase 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:29,417,451...29,420,233
Ensembl chr15:29,417,451...29,420,233
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 chr15:28,412,624...28,415,304
Ensembl chr15:28,412,624...28,415,287
JBrowse link
G Coch cochlin ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 6:69,031,139...69,045,124
Ensembl chr 6:69,031,167...69,045,109
JBrowse link
G Cpne6 copine 6 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:28,998,293...29,005,044
Ensembl chr15:28,998,293...29,005,044
JBrowse link
G Ctsg cathepsin G ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:29,930,988...29,937,353
Ensembl chr15:29,931,003...29,937,353
JBrowse link
G Dad1 defender against cell death 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:27,677,285...27,697,275
Ensembl chr15:27,677,268...27,697,347
JBrowse link
G Dcaf11 DDB1 and CUL4 associated factor 11 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:29,046,744...29,057,450
Ensembl chr15:29,046,826...29,057,669
JBrowse link
G Dhrs1 dehydrogenase/reductase 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:29,236,522...29,243,807
Ensembl chr15:29,236,522...29,243,838
JBrowse link
G Dhrs2 dehydrogenase/reductase 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:28,688,881...28,703,646
Ensembl chr15:28,688,940...28,703,644
JBrowse link
G Dhrs4 dehydrogenase/reductase 4 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:28,966,544...28,978,135
Ensembl chr15:28,966,553...28,978,127
JBrowse link
G Dnaaf2 dynein, axonemal, assembly factor 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 6:87,661,101...87,670,267
Ensembl chr 6:87,660,821...87,670,199
JBrowse link
G Dtd2 D-aminoacyl-tRNA deacylase 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 6:69,450,146...69,456,430
Ensembl chr 6:69,449,614...69,456,427
JBrowse link
G Eapp E2F-associated phosphoprotein ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 6:72,166,486...72,194,357
Ensembl chr 6:72,170,301...72,193,734
JBrowse link
G Eddm3b epididymal protein 3B ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:24,343,835...24,346,774
Ensembl chr15:24,345,573...24,346,025
JBrowse link
G Efs embryonal Fyn-associated substrate ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:28,392,417...28,403,016
Ensembl chr15:28,392,187...28,401,902
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 chr 6:71,650,297...71,675,766
Ensembl chr 6:71,650,297...71,675,766
JBrowse link
G Emc9 ER membrane protein complex subunit 9 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:29,071,881...29,076,098
Ensembl chr15:29,071,883...29,076,098
JBrowse link
G Fam177a1 family with sequence similarity 177, member A1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 6:72,632,587...72,647,052
Ensembl chr 6:72,632,623...72,647,553
JBrowse link
G Fancm FA complementation group M ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 6:83,126,903...83,180,455
Ensembl chr 6:83,127,093...83,180,028
JBrowse link
G Fbxo33 F-box protein 33 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 6:76,900,619...76,934,232
Ensembl chr 6:76,900,631...76,932,669
JBrowse link
G Fitm1 fat storage-inducing transmembrane protein 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:29,064,746...29,066,015
Ensembl chr15:29,064,707...29,066,015
JBrowse link
G Fkbp3 FKBP prolyl isomerase 3 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 6:83,113,885...83,125,500
Ensembl chr 6:83,113,786...83,127,011
JBrowse link
G Foxa1 forkhead box A1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 6:75,099,907...75,136,534
Ensembl chr 6:75,103,503...75,136,188
JBrowse link
G Foxg1 forkhead box G1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 6:66,674,797...66,677,611
Ensembl chr 6:66,666,587...66,678,607
JBrowse link
G Fscb fibrous sheath CABYR binding protein ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 6:82,527,849...82,530,641 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 chr 6:68,763,847...68,795,305
Ensembl chr 6:68,764,185...68,793,924
JBrowse link
G Gemin2 gem (nuclear organelle) associated protein 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 6:76,706,424...76,721,154
Ensembl chr 6:76,707,523...76,721,153
JBrowse link
G Gmpr2 guanosine monophosphate reductase 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:29,165,421...29,175,933
Ensembl chr15:29,165,783...29,174,935
JBrowse link
G Gpr33-ps1 G protein-coupled receptor 33, pseudogene 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 6:69,474,435...69,475,440
Ensembl chr 6:69,474,435...69,475,440
JBrowse link
G Gzmb granzyme B ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:30,343,361...30,346,792
Ensembl chr15:30,173,603...30,346,814
JBrowse link
G Gzmf granzyme F ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:30,005,361...30,018,649
Ensembl chr15:30,007,267...30,018,649
JBrowse link
G Haus4 HAUS augmin-like complex, subunit 4 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:27,994,530...28,006,147
Ensembl chr15:27,994,532...28,005,938
JBrowse link
G Heatr5a HEAT repeat containing 5A ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 6:69,321,869...69,419,861
Ensembl chr 6:69,321,869...69,419,773
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 chr 6:69,181,429...69,267,803
Ensembl chr 6:69,181,436...69,268,053
JBrowse link
G Hnrnpc heterogeneous nuclear ribonucleoprotein C ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:24,779,593...24,809,213
Ensembl chr15:24,779,450...24,809,183
JBrowse link
G Homez homeobox and leucine zipper encoding ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:28,321,633...28,339,486
Ensembl chr15:28,320,819...28,339,745
JBrowse link
G Il25 interleukin 25 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:28,408,842...28,411,676
Ensembl chr15:28,408,842...28,411,893
JBrowse link
G Insm2 INSM transcriptional repressor 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 6:72,973,897...72,977,777 JBrowse link
G Ipo4 importin 4 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:29,117,365...29,127,382
Ensembl chr15:29,117,365...29,127,285
JBrowse link
G Irf9 interferon regulatory factor 9 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:29,095,474...29,101,924
Ensembl chr15:29,095,789...29,101,236
JBrowse link
G Jph4 junctophilin 4 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:28,579,579...28,588,903
Ensembl chr15:28,571,568...28,587,573
JBrowse link
G Khnyn KH and NYN domain containing ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:29,365,399...29,379,650
Ensembl chr15:29,365,260...29,376,967
JBrowse link
G Klhdc1 kelch domain containing 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 6:87,670,182...87,765,431
Ensembl chr 6:87,712,772...87,765,424
JBrowse link
G Klhdc2 kelch domain containing 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 6:87,777,183...87,791,609
Ensembl chr 6:87,777,183...87,804,187
JBrowse link
G Klhl28 kelch-like family member 28 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 6:82,987,360...83,018,971
Ensembl chr 6:82,990,945...83,016,164
JBrowse link
G L2hgdh L-2-hydroxyglutarate dehydrogenase ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 6:88,164,429...88,205,585
Ensembl chr 6:88,164,440...88,205,578
JBrowse link
G LOC103693823 epididymal secretory protein E3-beta-like ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:24,385,585...24,386,643
Ensembl chr15:24,386,192...24,386,623
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 chr 6:79,466,403...79,822,821
Ensembl chr 6:79,467,961...79,822,815
JBrowse link
G Lrp10 LDL receptor related protein 10 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:27,921,105...27,927,507
Ensembl chr15:27,920,259...27,927,505
JBrowse link
G Lrr1 leucine rich repeat protein 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 6:87,643,195...87,651,894
Ensembl chr 6:87,643,217...87,651,894
JBrowse link
G Ltb4r leukotriene B4 receptor ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:29,263,126...29,265,716 JBrowse link
G Ltb4r2 leukotriene B4 receptor 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:29,258,427...29,260,340
Ensembl chr15:29,259,240...29,260,316
JBrowse link
G Mbip MAP3K12 binding inhibitory protein 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 6:73,808,133...73,825,394
Ensembl chr 6:73,808,133...73,825,374
JBrowse link
G Mdga2 MAM domain containing glycosylphosphatidylinositol anchor 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 6:84,746,422...85,608,640
Ensembl chr 6:84,761,941...85,608,126
JBrowse link
G Mdp1 magnesium-dependent phosphatase 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:29,148,994...29,153,091
Ensembl chr15:29,148,994...29,151,905
JBrowse link
G Mettl17 methyltransferase like 17 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:24,582,296...24,589,029
Ensembl chr15:24,582,406...24,589,026
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 chr15:25,002,505...25,014,097
Ensembl chr15:25,003,172...25,014,041
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 chr 6:87,656,360...87,658,849
Ensembl chr 6:87,656,349...87,658,177
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 chr 6:76,787,508...76,885,246
Ensembl chr 6:76,787,508...76,885,211
JBrowse link
G Mipol1 mirror-image polydactyly 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 6:74,755,314...75,090,403
Ensembl chr 6:74,755,395...75,086,811
JBrowse link
G Mir208a microRNA 208a ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:28,425,570...28,425,652 JBrowse link
G Mir208b microRNA 208b ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:28,451,638...28,451,749
Ensembl chr15:28,451,638...28,451,749
JBrowse link
G Mis18bp1 MIS18 binding protein 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 6:83,182,497...83,231,978
Ensembl chr 6:83,182,499...83,231,383
JBrowse link
G Mmp14 matrix metallopeptidase 14 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:27,887,795...27,897,020
Ensembl chr15:27,887,727...27,899,864
JBrowse link
G Mrpl52 mitochondrial ribosomal protein L52 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:27,882,777...27,886,131
Ensembl chr15:27,882,829...27,886,799
JBrowse link
G Myh6 myosin heavy chain 6 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:28,418,120...28,442,316
Ensembl chr15:28,417,616...28,441,720
JBrowse link
G Myh7 myosin heavy chain 7 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:28,446,550...28,469,888
Ensembl chr15:28,446,550...28,468,217
JBrowse link
G Ndrg2 NDRG family member 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:24,600,981...24,609,621
Ensembl chr15:24,600,982...24,609,626
JBrowse link
G Nedd8 NEDD8 ubiquitin like modifier ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:29,153,556...29,165,575
Ensembl chr15:29,153,556...29,166,160
JBrowse link
G Nemf nuclear export mediator factor ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 6:87,791,650...87,835,826
Ensembl chr 6:87,791,656...87,835,841
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 chr15:29,286,998...29,314,610
Ensembl chr15:29,305,535...29,314,610
JBrowse link
G Nfkbia NFKB inhibitor alpha ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 6:72,858,713...72,861,941
Ensembl chr 6:72,858,712...72,861,941
JBrowse link
G Ngdn neuroguidin ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:28,489,950...28,497,286
Ensembl chr15:28,490,040...28,519,654
JBrowse link
G Nkx2-1 NK2 homeobox 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
DNA:missense mutation exon:p.L224R (c.671T>G) (human)
DNA:nonsense mutation:exon:p.S145X (c.609C>A) (human)
DNA:deletion:exon:p.R165Gfs*32 (c.493delC) (human)
DNA:deletion:exon:p.M29Afs*40 (c.84_90del) (human)
OMIM
ClinVar
RGD
PMID:11854318 PMID:11854319 PMID:12891678 PMID:15955952 PMID:17220277 More... RGD:12914770, RGD:11073166, RGD:12914769, RGD:12914768 NCBI chr 6:73,996,601...74,001,483
Ensembl chr 6:73,996,601...73,999,791
JBrowse link
G Nkx2-8 NK2 homeobox 8 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 6:74,086,274...74,087,977
Ensembl chr 6:74,086,274...74,087,977
JBrowse link
G Nop9 NOP9 nucleolar protein ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:29,243,853...29,252,220
Ensembl chr15:29,243,862...29,252,220
JBrowse link
G Nova1 NOVA alternative splicing regulator 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 6:63,780,105...63,905,950
Ensembl chr 6:63,783,489...63,906,289
JBrowse link
G Npas3 neuronal PAS domain protein 3 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 6:70,702,773...71,527,928
Ensembl chr 6:70,703,170...71,524,884
JBrowse link
G Nrl neural retina leucine zipper ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:29,008,104...29,009,832
Ensembl chr15:29,008,104...29,009,832
JBrowse link
G Nubpl NUBP iron-sulfur cluster assembly factor like ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 6:69,559,278...69,781,254
Ensembl chr 6:69,559,291...69,781,253
JBrowse link
G Nynrin NYN domain and retroviral integrase containing ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:29,332,873...29,355,215
Ensembl chr15:29,332,869...29,355,215
JBrowse link
G Or10g1b olfactory receptor family 10 subfamily G member 1B ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:25,127,833...25,128,789
Ensembl chr15:25,127,140...25,135,188
JBrowse link
G Or10g3 olfactory receptor family 10 subfamily G member 3 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:25,098,674...25,099,615
Ensembl chr15:25,098,674...25,099,615
JBrowse link
G Or4e2 olfactory receptor family 4 subfamily E member 5 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:25,187,633...25,188,559
Ensembl chr15:25,179,800...25,191,297
JBrowse link
G Or5au1 olfactory receptor family 5 subfamily AU member 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:24,736,872...24,742,314
Ensembl chr15:24,737,497...24,743,632
JBrowse link
G Oxa1l OXA1L, mitochondrial inner membrane protein ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:27,813,688...27,821,319
Ensembl chr15:27,813,625...27,821,319
JBrowse link
G Pabpn1 poly(A) binding protein, nuclear 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:28,368,100...28,372,712
Ensembl chr15:28,368,100...28,372,703
JBrowse link
G Pax9 paired box 9 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 6:74,186,749...74,203,508
Ensembl chr 6:74,182,568...74,203,506
JBrowse link
G Pck2 phosphoenolpyruvate carboxykinase 2 (mitochondrial) ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:29,027,891...29,036,729
Ensembl chr15:29,027,894...29,037,283
JBrowse link
G Pnn pinin, desmosome associated protein ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 6:76,758,138...76,766,451
Ensembl chr 6:76,758,117...76,766,889
JBrowse link
G Pole2 DNA polymerase epsilon 2, accessory subunit ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 6:87,674,702...87,712,723
Ensembl chr 6:87,674,702...87,699,305
JBrowse link
G Ppp1r3e protein phosphatase 1, regulatory subunit 3E ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:28,348,443...28,349,603
Ensembl chr15:28,347,854...28,349,603
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 chr 6:72,647,025...72,670,885
Ensembl chr 6:72,647,025...72,672,491
JBrowse link
G Prkd1 protein kinase D1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 6:67,725,193...68,039,002
Ensembl chr 6:67,725,905...68,039,042
JBrowse link
G Prmt5 protein arginine methyltransferase 5 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:27,968,893...27,978,291
Ensembl chr15:27,968,910...27,978,296
JBrowse link
G Prorp protein only RNase P catalytic subunit ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 6:72,669,659...72,762,419
Ensembl chr 6:72,670,847...72,762,416
JBrowse link
G Prpf39 pre-mRNA processing factor 39 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 6:83,088,981...83,113,826
Ensembl chr 6:83,088,986...83,113,825
JBrowse link
G Psma6 proteasome 20S subunit alpha 6 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 6:72,765,534...72,796,554
Ensembl chr 6:72,765,473...72,796,554
JBrowse link
G Psmb11 proteasome subunit beta 11 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:28,081,148...28,087,326 JBrowse link
G Psmb5 proteasome 20S subunit beta 5 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:28,072,772...28,077,367
Ensembl chr15:28,072,781...28,077,440
JBrowse link
G Psme1 proteasome activator subunit 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:29,069,012...29,071,888
Ensembl chr15:29,068,729...29,071,890
JBrowse link
G Psme2 proteasome activator subunit 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:29,078,495...29,082,794
Ensembl chr15:29,078,500...29,082,946
JBrowse link
G Rab2b RAB2B, member RAS oncogene family ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:24,968,364...24,988,990
Ensembl chr15:24,968,803...24,989,113
JBrowse link
G Rabggta Rab geranylgeranyltransferase subunit alpha ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:29,206,328...29,213,398
Ensembl chr15:29,206,157...29,213,348
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 chr 6:72,977,432...73,252,378
Ensembl chr 6:72,977,432...73,252,378
JBrowse link
G Rec8 REC8 meiotic recombination protein ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:29,109,862...29,117,327
Ensembl chr15:29,109,863...29,117,326
JBrowse link
G Rem2 RRAD and GEM like GTPase 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:27,933,950...27,938,429
Ensembl chr15:27,933,950...27,938,429
JBrowse link
G RGD1307621 hypothetical LOC314168 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 6:82,965,304...82,973,942
Ensembl chr 6:82,965,328...82,972,558
JBrowse link
G RGD1565222 similar to RIKEN cDNA 4931414P19 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:28,037,567...28,064,347
Ensembl chr15:28,037,574...28,064,274
JBrowse link
G Ripk3 receptor-interacting serine-threonine kinase 3 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:29,283,153...29,292,107
Ensembl chr15:29,283,145...29,292,121
JBrowse link
G Rn7sl1 RNA component of signal recognition particle 7SL1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 6:87,636,808...87,637,106
Ensembl chr 6:87,636,804...87,637,103
JBrowse link
G Rnase1 ribonuclease A family member 1, pancreatic ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:24,361,924...24,363,658
Ensembl chr15:24,361,927...24,363,624
JBrowse link
G Rnase13 ribonuclease A family member 13 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:24,618,209...24,618,670
Ensembl chr15:24,618,209...24,618,670
JBrowse link
G Rnase2 ribonuclease A family member 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:24,449,618...24,450,427
Ensembl chr15:24,449,611...24,450,479
JBrowse link
G Rnase3 ribonuclease A family member 3 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:24,511,894...24,512,764
Ensembl chr15:24,511,891...24,512,790
JBrowse link
G Rnase4 ribonuclease A family member 4 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:24,312,765...24,330,116
Ensembl chr15:24,312,464...24,330,117
JBrowse link
G Rnase6 ribonuclease A family member k6 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:24,354,305...24,357,289
Ensembl chr15:24,354,303...24,357,328
JBrowse link
G Rnf212b ring finger protein 212B ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:28,274,629...28,321,093
Ensembl chr15:28,244,083...28,321,347
JBrowse link
G Rnf31 ring finger protein 31 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:29,083,047...29,095,328
Ensembl chr15:29,083,631...29,101,915
JBrowse link
G Rpgrip1 RPGR interacting protein 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:24,814,576...24,867,522
Ensembl chr15:24,814,614...24,868,605
JBrowse link
G Rpl10l ribosomal protein L10-like ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 6:84,544,771...84,545,863
Ensembl chr 6:84,543,540...84,545,816
JBrowse link
G Rpl36al ribosomal protein L36A-like ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 6:87,654,808...87,656,202
Ensembl chr  X:97,766,179...97,768,892
Ensembl chr10:97,766,179...97,768,892
JBrowse link
G Rps29 ribosomal protein S29 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 6:87,635,229...87,636,605
Ensembl chr 6:87,635,230...87,636,636
JBrowse link
G Sall2 spalt-like transcription factor 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:25,021,345...25,038,918
Ensembl chr15:25,021,345...25,038,918
JBrowse link
G Scfd1 sec1 family domain containing 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 6:68,795,810...68,874,076
Ensembl chr 6:68,795,878...68,874,078
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 chr15:29,378,026...29,381,075
Ensembl chr15:29,378,026...29,381,560
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 chr 6:76,658,793...76,706,125
Ensembl chr 6:76,658,427...76,706,035
JBrowse link
G Slc22a17 solute carrier family 22, member 17 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:28,382,285...28,389,435
Ensembl chr15:28,382,292...28,388,799
JBrowse link
G Slc25a21 solute carrier family 25 member 21 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 6:74,203,439...74,702,902
Ensembl chr 6:74,203,440...74,702,680
JBrowse link
G Slc39a2 solute carrier family 39 member 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:24,590,738...24,592,850
Ensembl chr15:24,590,738...24,592,850
JBrowse link
G Slc7a7 solute carrier family 7 member 7 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:27,822,088...27,873,121
Ensembl chr15:27,822,091...27,865,648
JBrowse link
G Slc7a8 solute carrier family 7 member 8 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:28,183,013...28,242,717
Ensembl chr15:28,183,015...28,242,717
JBrowse link
G Snx6 sorting nexin 6 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 6:72,230,950...72,274,157
Ensembl chr 6:72,229,870...72,315,911
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 chr 6:88,042,966...88,156,140
Ensembl chr 6:88,042,966...88,156,692
JBrowse link
G Sptssa serine palmitoyltransferase, small subunit A ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 6:72,144,714...72,156,130
Ensembl chr 6:72,144,714...72,156,214
JBrowse link
G Srp54a signal recognition particle 54A ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 6:72,587,582...72,645,154
Ensembl chr 6:72,587,605...72,625,189
JBrowse link
G Sstr1 somatostatin receptor 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 6:75,832,292...75,836,806
Ensembl chr 6:75,832,530...75,836,802
JBrowse link
G Strn3 striatin 3 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 6:69,047,776...69,134,102
Ensembl chr 6:69,047,776...69,134,102
JBrowse link
G Stxbp6 syntaxin binding protein 6 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 6:61,920,756...62,157,405
Ensembl chr 6:61,920,756...62,158,024
JBrowse link
G Supt16h SPT16 homolog, facilitates chromatin remodeling subunit ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:24,867,697...24,904,818
Ensembl chr15:24,866,489...24,904,846
JBrowse link
G Tgm1 transglutaminase 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:29,191,039...29,206,000
Ensembl chr15:29,191,041...29,204,523
JBrowse link
G Thtpa thiamine triphosphatase ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:28,567,619...28,571,580
Ensembl chr15:28,567,323...28,571,580
JBrowse link
G Tinf2 TERF1 interacting nuclear factor 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:29,170,663...29,178,015
Ensembl chr15:29,170,652...29,176,984
JBrowse link
G Tm9sf1 transmembrane 9 superfamily member 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:29,127,585...29,135,349
Ensembl chr15:29,127,584...29,135,349
JBrowse link
G Tmem253 transmembrane protein 253 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:24,706,517...24,709,107
Ensembl chr15:24,706,529...24,708,625
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 chr 6:83,019,025...83,083,343
Ensembl chr 6:83,018,859...83,082,807
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 chr15:24,989,246...25,002,833
Ensembl chr15:24,988,853...25,002,833
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 chr15:24,614,284...24,627,123
Ensembl chr15:24,614,006...24,618,967
JBrowse link
G Trappc6b trafficking protein particle complex subunit 6B ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 6:76,740,898...76,752,035
Ensembl chr 6:76,740,898...76,752,024
JBrowse link
G Tssk4 testis-specific serine kinase 4 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:29,140,803...29,144,128
Ensembl chr15:29,141,792...29,144,128
JBrowse link
G Ttc6 tetratricopeptide repeat domain 6 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 6:75,136,827...75,368,176
Ensembl chr 6:75,136,792...75,368,178
JBrowse link
G Vcpkmt valosin containing protein lysine methyltransferase ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 6:88,036,485...88,042,151
Ensembl chr 6:88,036,494...88,042,000
JBrowse link
G Zfhx2 zinc finger homeobox 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:28,533,155...28,565,667
Ensembl chr15:28,533,156...28,565,128
JBrowse link
G Zfp219 zinc finger protein 219 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:24,695,831...24,710,039
Ensembl chr15:24,695,837...24,710,030
JBrowse link
CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Iars2 isoleucyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia OMIM
ClinVar
PMID:8409271 PMID:25130867 PMID:25741868 PMID:28328135 PMID:28492532 More... NCBI chr13:96,831,773...96,865,533
Ensembl chr13:96,831,484...96,865,501
JBrowse link
cerebrooculofacioskeletal syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ercc6 ERCC excision repair 6, chromatin remodeling factor ISO ClinVar Annotator: match by term: COFS syndrome | ClinVar Annotator: match by term: Cerebrooculofacioskeletal Syndrome ClinVar PMID:18414213 PMID:25741868 PMID:28492532 NCBI chr16:7,764,983...7,835,587
Ensembl chr16:7,765,013...7,835,587
JBrowse link
cerebrooculofacioskeletal syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit ISO ClinVar Annotator: match by term: Cerebrooculofacioskeletal syndrome 1 ClinVar PMID:24728327 PMID:25741868 PMID:28492532 NCBI chr 1:79,033,342...79,047,102
Ensembl chr 1:79,033,326...79,047,102
JBrowse link
G Ercc6 ERCC excision repair 6, chromatin remodeling factor ISO ClinVar Annotator: match by term: CEREBROOCULOFACIOSKELETAL SYNDROME 1 | ClinVar Annotator: match by term: Cerebrooculofacioskeletal syndrome 1 | ClinVar Annotator: match by term: PENA-SHOKEIR SYNDROME, TYPE II
CTD Direct Evidence: marker/mechanism
DNA:nonsense mutation
DNA:point mutation: :c.3862C>T (human)
OMIM
ClinVar
CTD
RGD
PMID:887325 PMID:1339317 PMID:7063265 PMID:9150142 PMID:9443879 More... RGD:10401101, RGD:10401092 NCBI chr16:7,764,983...7,835,587
Ensembl chr16:7,765,013...7,835,587
JBrowse link
cerebrooculofacioskeletal syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit ISO DNA:missense mutations:p.R616W, p.D681N (human)
ClinVar Annotator: match by term: Cerebrooculofacioskeletal syndrome 2
ClinVar
OMIM
RGD
PMID:7585650 PMID:7920640 PMID:8571952 PMID:9195225 PMID:9238033