Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

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:Endocrine Bone Diseases
go back to main search page
Accession:DOID:9007819 term browser browse the term
Definition:Diseases of the bones related to hyperfunction or hypofunction of the endocrine glands.
Synonyms:exact_synonym: Endocrine Bone Disease
 primary_id: MESH:D001849
 alt_id: RDO:0004719


show annotations for term's descendants           Sort by:
Endocrine Bone Diseases term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PDGFA platelet derived growth factor subunit A EXP CTD Direct Evidence: marker/mechanism CTD PMID:18635661 NCBI chr 7:497,258...520,700
Ensembl chr 7:497,258...520,296 		JBrowse link
G PTH parathyroid hormone EXP CTD Direct Evidence: marker/mechanism CTD PMID:18635661 NCBI chr11:13,492,054...13,496,181
Ensembl chr11:13,492,054...13,496,181 		JBrowse link
acromegaly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GH1 growth hormone 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:1682667 PMID:3059976 PMID:6237480 PMID:7440347 PMID:9186818 More... NCBI chr17:63,917,203...63,918,839
Ensembl chr17:63,917,200...63,918,839 		JBrowse link
G GNAS GNAS complex locus EXP CTD Direct Evidence: marker/mechanism CTD PMID:11254676 NCBI chr20:58,839,748...58,911,192
Ensembl chr20:58,839,718...58,911,192 		JBrowse link
G IGF1 insulin like growth factor 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:1682667 PMID:9186818 PMID:18381583 PMID:18388193 NCBI chr12:102,395,874...102,481,839
Ensembl chr12:102,395,874...102,481,744 		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 IAGP ClinVar Annotator: match by term: Alazami syndrome ClinVar PMID:23033978 PMID:24614104 PMID:25326669 PMID:25741868 PMID:26350204 More... NCBI chr 3:41,199,505...41,240,443
Ensembl chr 3:41,194,741...41,260,096 		JBrowse link
G LARP7 La ribonucleoprotein 7, transcriptional regulator IAGP
EXP		 ClinVar Annotator: match by term: Alazami syndrome
ClinVar Annotator: match by term: LARP7-related condition
ClinVar Annotator: match by term: Alazami syndrome | ClinVar Annotator: match by term: LARP7-related condition
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:9536098 PMID:17576681 PMID:21937992 PMID:22865833 PMID:25741868 More... NCBI chr 4:112,637,143...112,657,586
Ensembl chr 4:112,637,077...112,657,696 		JBrowse link
G LOC126806659 BRD4-independent group 4 enhancer GRCh37_chr3:41274918-41276117 IAGP ClinVar Annotator: match by term: Alazami syndrome ClinVar PMID:23033978 PMID:24614104 PMID:25326669 PMID:25741868 PMID:26350204 More... NCBI chr 3:41,233,427...41,234,626 JBrowse link
G MIR302CHG miR-302/367 cluster host gene IAGP ClinVar Annotator: match by term: Alazami syndrome
ClinVar Annotator: match by term: Alazami syndrome | ClinVar Annotator: match by term: LARP7-related condition		 ClinVar PMID:21937992 PMID:22865833 PMID:25741868 PMID:26374271 PMID:26539891 More... NCBI chr 4:112,646,720...112,650,051
Ensembl chr 4:112,646,476...112,650,051 		JBrowse link
G MIR302D microRNA 302d IAGP ClinVar Annotator: match by term: Alazami syndrome ClinVar PMID:25741868 NCBI chr 4:112,648,004...112,648,071
Ensembl chr 4:112,648,004...112,648,071 		JBrowse link
G MIR367 microRNA 367 IAGP ClinVar Annotator: match by term: Alazami syndrome ClinVar PMID:25741868 NCBI chr 4:112,647,874...112,647,941
Ensembl chr 4:112,647,874...112,647,941 		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 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:22,598,300...22,612,963
Ensembl chr14:22,598,290...22,612,963 		JBrowse link
G ACIN1 apoptotic chromatin condensation inducer 1 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:23,058,564...23,095,614
Ensembl chr14:23,058,564...23,095,614 		JBrowse link
G ADCY4 adenylate cyclase 4 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:24,318,359...24,335,071
Ensembl chr14:24,318,349...24,335,093 		JBrowse link
G AJUBA ajuba LIM protein IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:22,971,177...22,982,551
Ensembl chr14:22,971,177...22,982,551 		JBrowse link
G AKAP6 A-kinase anchoring protein 6 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:32,329,298...32,837,684
Ensembl chr14:32,329,298...32,837,684 		JBrowse link
G ANG angiogenin IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:20,684,177...20,694,186
Ensembl chr14:20,684,177...20,698,971 		JBrowse link
G AP1G2 adaptor related protein complex 1 subunit gamma 2 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:23,559,567...23,567,791
Ensembl chr14:23,559,565...23,568,070 		JBrowse link
G AP4S1 adaptor related protein complex 4 subunit sigma 1 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:31,025,106...31,096,450
Ensembl chr14:31,025,106...31,130,996 		JBrowse link
G ARF6 ADP ribosylation factor 6 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:49,893,082...49,897,054
Ensembl chr14:49,893,079...49,897,054 		JBrowse link
G ARHGAP5 Rho GTPase activating protein 5 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:32,077,304...32,159,728
Ensembl chr14:32,076,114...32,159,728 		JBrowse link
G ARHGEF40 Rho guanine nucleotide exchange factor 40 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:21,061,264...21,090,248
Ensembl chr14:21,070,273...21,090,248 		JBrowse link
G BAZ1A bromodomain adjacent to zinc finger domain 1A IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:34,752,731...34,875,360
Ensembl chr14:34,752,731...34,875,647 		JBrowse link
G BCL2L2 BCL2 like 2 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:23,306,833...23,311,751
Ensembl chr14:23,298,790...23,311,751 		JBrowse link
G BCL2L2-PABPN1 BCL2L2-PABPN1 readthrough IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:23,306,833...23,326,163
Ensembl chr14:23,306,833...23,326,175 		JBrowse link
G BRMS1L BRMS1 like transcriptional repressor IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:35,826,338...35,871,963
Ensembl chr14:35,826,338...35,932,325 		JBrowse link
G C14orf119 chromosome 14 open reading frame 119 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:23,095,505...23,100,456
Ensembl chr14:23,095,505...23,100,456 		JBrowse link
G C14orf28 chromosome 14 open reading frame 28 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:44,897,275...44,907,257
Ensembl chr14:44,897,275...44,907,257 		JBrowse link
G C14orf93 chromosome 14 open reading frame 93 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:22,985,894...23,010,143
Ensembl chr14:22,985,894...23,010,166 		JBrowse link
G CARMIL3 capping protein regulator and myosin 1 linker 3 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:24,052,009...24,069,729
Ensembl chr14:24,052,009...24,069,729 		JBrowse link
G CBLN3 cerebellin 3 precursor IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:24,426,545...24,429,668
Ensembl chr14:24,426,545...24,430,954 		JBrowse link
G CDH24 cadherin 24 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:23,047,067...23,057,520
Ensembl chr14:23,047,062...23,057,538 		JBrowse link
G CEBPE CCAAT enhancer binding protein epsilon IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:23,117,306...23,119,255
Ensembl chr14:23,117,036...23,120,256 		JBrowse link
G CFL2 cofilin 2 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:34,709,113...34,714,593
Ensembl chr14:34,709,113...34,714,823 		JBrowse link
G CHD8 chromodomain helicase DNA binding protein 8 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:21,385,199...21,456,123
Ensembl chr14:21,385,194...21,456,126 		JBrowse link
G CHMP4A charged multivesicular body protein 4A IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:24,209,615...24,213,488
Ensembl chr14:24,209,615...24,213,830 		JBrowse link
G CIDEB cell death inducing DFFA like effector b IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:24,305,187...24,311,435
Ensembl chr14:24,305,187...24,311,430 		JBrowse link
G CLEC14A C-type lectin domain containing 14A IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:38,254,000...38,256,093
Ensembl chr14:38,254,000...38,256,093 		JBrowse link
G CMA1 chymase 1 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:24,505,353...24,508,265
Ensembl chr14:24,505,353...24,508,265 		JBrowse link
G CMTM5 CKLF like MARVEL transmembrane domain containing 5 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:23,376,771...23,379,772
Ensembl chr14:23,376,773...23,379,772 		JBrowse link
G COCH cochlin IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:30,874,559...30,895,615
Ensembl chr14:30,874,514...30,895,065 		JBrowse link
G CPNE6 copine 6 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:24,070,949...24,078,087
Ensembl chr14:24,070,837...24,078,100 		JBrowse link
G CTSG cathepsin G IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:24,573,518...24,576,250
Ensembl chr14:24,573,518...24,576,250 		JBrowse link
G DAD1 defender against cell death 1 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:22,564,907...22,589,224
Ensembl chr14:22,564,907...22,589,224 		JBrowse link
G DCAF11 DDB1 and CUL4 associated factor 11 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:24,114,777...24,125,242
Ensembl chr14:24,114,195...24,125,242 		JBrowse link
G DHRS1 dehydrogenase/reductase 1 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:24,290,598...24,299,780
Ensembl chr14:24,290,598...24,299,780 		JBrowse link
G DHRS2 dehydrogenase/reductase 2 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:23,630,115...23,645,639
Ensembl chr14:23,630,115...23,645,639 		JBrowse link
G DHRS4 dehydrogenase/reductase 4 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:23,953,770...23,969,279
Ensembl chr14:23,953,734...23,969,279 		JBrowse link
G DHRS4L1 dehydrogenase/reductase 4 like 1 (pseudogene) IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:24,007,084...24,051,377
Ensembl chr14:23,969,931...24,051,377
Ensembl chr14:23,969,931...24,051,377 		JBrowse link
G DHRS4L2 dehydrogenase/reductase 4 like 2 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:23,969,874...24,006,408
Ensembl chr14:23,969,874...24,006,408 		JBrowse link
G DNAAF2 dynein axonemal assembly factor 2 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:49,625,174...49,635,244
Ensembl chr14:49,625,174...49,635,244 		JBrowse link
G DTD2 D-aminoacyl-tRNA deacylase 2 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:31,446,036...31,457,506
Ensembl chr14:31,446,036...31,457,506 		JBrowse link
G EAPP E2F associated phosphoprotein IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:34,515,938...34,539,701
Ensembl chr14:34,515,938...34,539,704 		JBrowse link
G EDDM3A epididymal protein 3A IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:20,735,946...20,748,380
Ensembl chr14:20,745,887...20,748,380 		JBrowse link
G EDDM3B epididymal protein 3B IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:20,768,404...20,770,948
Ensembl chr14:20,768,404...20,770,948 		JBrowse link
G EFS embryonal Fyn-associated substrate IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:23,356,406...23,365,172
Ensembl chr14:23,356,403...23,365,752 		JBrowse link
G EGLN3 egl-9 family hypoxia inducible factor 3 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:33,924,227...33,951,074
Ensembl chr14:33,924,227...34,462,774 		JBrowse link
G EMC9 ER membrane protein complex subunit 9 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:24,138,965...24,141,591
Ensembl chr14:24,138,959...24,141,591 		JBrowse link
G FAM177A1 family with sequence similarity 177 member A1 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:35,044,907...35,083,383
Ensembl chr14:35,045,117...35,116,630 		JBrowse link
G FANCM FA complementation group M IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:45,135,930...45,200,890
Ensembl chr14:45,135,930...45,200,890 		JBrowse link
G FBXO33 F-box protein 33 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:39,397,684...39,432,433
Ensembl chr14:39,397,684...39,432,466 		JBrowse link
G FITM1 fat storage inducing transmembrane protein 1 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:24,130,659...24,132,847
Ensembl chr14:24,130,659...24,132,849 		JBrowse link
G FKBP3 FKBP prolyl isomerase 3 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:45,115,599...45,134,481
Ensembl chr14:45,115,599...45,135,319 		JBrowse link
G FOXA1 forkhead box A1 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:37,589,552...37,595,249
Ensembl chr14:37,589,552...37,596,059 		JBrowse link
G FOXG1 forkhead box G1 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:28,766,787...28,770,277
Ensembl chr14:28,764,329...28,770,277 		JBrowse link
G FSCB fibrous sheath CABYR binding protein IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:44,504,149...44,507,283
Ensembl chr14:44,504,149...44,507,283 		JBrowse link
G G2E3 G2/M-phase specific E3 ubiquitin protein ligase IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:30,559,158...30,620,064
Ensembl chr14:30,559,158...30,620,064 		JBrowse link
G GEMIN2 gem nuclear organelle associated protein 2 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:39,114,323...39,136,973
Ensembl chr14:39,114,285...39,136,973 		JBrowse link
G GMPR2 guanosine monophosphate reductase 2 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:24,232,622...24,239,242
Ensembl chr14:24,232,422...24,239,242 		JBrowse link
G GPR33 G protein-coupled receptor 33 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:31,482,875...31,488,039
Ensembl chr14:31,482,875...31,488,039 		JBrowse link
G GZMB granzyme B IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:24,630,954...24,634,190
Ensembl chr14:24,630,954...24,634,267 		JBrowse link
G GZMH granzyme H IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:24,606,480...24,609,685
Ensembl chr14:24,606,480...24,609,699 		JBrowse link
G HAUS4 HAUS augmin like complex subunit 4 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:22,946,228...22,957,090
Ensembl chr14:22,946,228...22,957,161 		JBrowse link
G HEATR5A HEAT repeat containing 5A IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:31,291,788...31,420,550
Ensembl chr14:31,291,788...31,420,550 		JBrowse link
G HECTD1 HECT domain E3 ubiquitin protein ligase 1 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:31,100,117...31,207,793
Ensembl chr14:31,100,117...31,207,804 		JBrowse link
G HNRNPC heterogeneous nuclear ribonucleoprotein C IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:21,209,147...21,269,442
Ensembl chr14:21,209,136...21,269,494 		JBrowse link
G HOMEZ homeobox and leucine zipper encoding IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:23,272,422...23,286,132
Ensembl chr14:23,272,422...23,299,796 		JBrowse link
G IL25 interleukin 25 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:23,372,809...23,376,403
Ensembl chr14:23,372,809...23,376,403 		JBrowse link
G INSM2 INSM transcriptional repressor 2 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:35,534,164...35,537,054
Ensembl chr14:35,534,164...35,537,054 		JBrowse link
G IPO4 importin 4 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:24,180,219...24,188,816
Ensembl chr14:24,180,219...24,188,869 		JBrowse link
G IRF9 interferon regulatory factor 9 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:24,161,265...24,166,565
Ensembl chr14:24,161,234...24,168,043 		JBrowse link
G JPH4 junctophilin 4 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:23,568,038...23,578,790
Ensembl chr14:23,568,038...23,578,790 		JBrowse link
G KHNYN KH and NYN domain containing IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:24,423,165...24,441,843
Ensembl chr14:24,429,286...24,441,843 		JBrowse link
G KLHDC1 kelch domain containing 1 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:49,693,120...49,753,150
Ensembl chr14:49,693,105...49,753,150 		JBrowse link
G KLHDC2 kelch domain containing 2 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:49,768,153...49,786,385
Ensembl chr14:49,768,130...49,786,385 		JBrowse link
G KLHL28 kelch like family member 28 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:44,924,324...44,961,947
Ensembl chr14:44,924,324...45,042,322 		JBrowse link
G L2HGDH L-2-hydroxyglutarate dehydrogenase IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:50,242,434...50,312,229
Ensembl chr14:50,237,563...50,312,229 		JBrowse link
G LINC01588 long intergenic non-protein coding RNA 1588 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:49,981,669...50,007,520
Ensembl chr14:49,927,571...50,105,102 		JBrowse link
G LINC01599 long intergenic non-protein coding RNA 1599 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:50,007,313...50,105,043
Ensembl chr14:49,927,571...50,105,102 		JBrowse link
G LRFN5 leucine rich repeat and fibronectin type III domain containing 5 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:41,606,876...41,904,549
Ensembl chr14:41,606,876...41,904,549 		JBrowse link
G LRP10 LDL receptor related protein 10 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:22,871,740...22,881,713
Ensembl chr14:22,871,740...22,881,713 		JBrowse link
G LRR1 leucine rich repeat protein 1 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:49,598,940...49,614,672
Ensembl chr14:49,598,761...49,614,672 		JBrowse link
G LTB4R leukotriene B4 receptor IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:24,311,502...24,318,036
Ensembl chr14:24,311,450...24,318,036 		JBrowse link
G LTB4R2 leukotriene B4 receptor 2 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:24,310,140...24,312,038
Ensembl chr14:24,305,734...24,312,053 		JBrowse link
G MBIP MAP3K12 binding inhibitory protein 1 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:36,298,564...36,320,637
Ensembl chr14:36,298,564...36,320,637 		JBrowse link
G MDGA2 MAM domain containing glycosylphosphatidylinositol anchor 2 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:46,839,623...47,675,605
Ensembl chr14:46,840,092...47,675,605 		JBrowse link
G MDP1 magnesium dependent phosphatase 1 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:24,213,943...24,216,066
Ensembl chr14:24,213,943...24,216,070 		JBrowse link
G METTL17 methyltransferase like 17 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:20,989,980...20,997,035
Ensembl chr14:20,989,973...20,997,035 		JBrowse link
G METTL3 methyltransferase 3, N6-adenosine-methyltransferase complex catalytic subunit IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:21,498,138...21,511,340
Ensembl chr14:21,498,133...21,511,342 		JBrowse link
G MGAT2 alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:49,620,799...49,623,481
Ensembl chr14:49,620,799...49,623,481 		JBrowse link
G MIA2 MIA SH3 domain ER export factor 2 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:39,233,915...39,388,522
Ensembl chr14:39,230,231...39,388,513 		JBrowse link
G MIPOL1 mirror-image polydactyly 1 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:37,197,937...37,552,361
Ensembl chr14:37,197,894...37,579,125 		JBrowse link
G MIR208A microRNA 208a IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:23,388,596...23,388,666
Ensembl chr14:23,388,596...23,388,666 		JBrowse link
G MIR208B microRNA 208b IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:23,417,987...23,418,063
Ensembl chr14:23,417,987...23,418,063 		JBrowse link
G MIS18BP1 MIS18 binding protein 1 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:45,203,190...45,253,202
Ensembl chr14:45,203,190...45,253,540 		JBrowse link
G MMP14 matrix metallopeptidase 14 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:22,836,585...22,847,758
Ensembl chr14:22,836,560...22,849,041 		JBrowse link
G MRPL52 mitochondrial ribosomal protein L52 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:22,829,887...22,835,037
Ensembl chr14:22,829,879...22,835,037 		JBrowse link
G MYH6 myosin heavy chain 6 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:23,381,987...23,408,273
Ensembl chr14:23,381,982...23,408,273 		JBrowse link
G MYH7 myosin heavy chain 7 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:23,412,740...23,435,660
Ensembl chr14:23,412,740...23,435,660 		JBrowse link
G NDRG2 NDRG family member 2 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:21,016,763...21,070,872
Ensembl chr14:21,016,763...21,070,872 		JBrowse link
G NEDD8 NEDD8 ubiquitin like modifier IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:24,216,857...24,232,367
Ensembl chr14:24,216,857...24,232,367 		JBrowse link
G NEDD8-MDP1 NEDD8-MDP1 readthrough IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:24,213,943...24,232,367
Ensembl chr14:24,213,955...24,232,352 		JBrowse link
G NEMF nuclear export mediator factor IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:49,782,083...49,852,788
Ensembl chr14:49,782,083...49,852,821 		JBrowse link
G NFATC4 nuclear factor of activated T cells 4 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:24,366,911...24,379,604
Ensembl chr14:24,365,673...24,379,604 		JBrowse link
G NFKBIA NFKB inhibitor alpha IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:35,401,513...35,404,749
Ensembl chr14:35,401,079...35,404,749 		JBrowse link
G NGDN neuroguidin IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:23,469,703...23,478,826
Ensembl chr14:23,469,679...23,509,862 		JBrowse link
G NKX2-1 NK2 homeobox 1 IAGP
EXP		 DNA:deletion:exon:p.M29Afs*40 (c.84_90del) (human)
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome | ClinVar Annotator: match by term: Choreoathetosis, hypothyroidism, and neonatal respiratory distress
CTD Direct Evidence: marker/mechanism
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)		 ClinVar
CTD
OMIM
RGD		 PMID:9536098 PMID:11854318 PMID:11854319 PMID:11971878 PMID:12891678 More... RGD:12914768, RGD:12914770, RGD:11073166, RGD:12914769 NCBI chr14:36,516,397...36,520,232
Ensembl chr14:36,516,392...36,521,149 		JBrowse link
G NKX2-1-AS1 NKX2-1 antisense RNA 1 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr14:36,519,278...36,523,016
Ensembl chr14:36,519,278...36,523,016 		JBrowse link
G NKX2-8 NK2 homeobox 8 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:36,580,004...36,582,614
Ensembl chr14:36,580,004...36,582,614 		JBrowse link
G NOP9 NOP9 nucleolar protein IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:24,271,203...24,309,124
Ensembl chr14:24,299,850...24,309,124 		JBrowse link
G NOVA1 NOVA alternative splicing regulator 1 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:26,443,090...26,598,033
Ensembl chr14:26,443,090...26,598,033 		JBrowse link
G NPAS3 neuronal PAS domain protein 3 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:32,934,785...33,804,173
Ensembl chr14:32,934,396...33,820,863 		JBrowse link
G NRL neural retina leucine zipper IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:24,078,662...24,114,949
Ensembl chr14:24,078,662...24,115,010 		JBrowse link
G NUBPL NUBP iron-sulfur cluster assembly factor, mitochondrial IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:31,561,404...31,861,224
Ensembl chr14:31,489,956...31,861,224 		JBrowse link
G NYNRIN NYN domain and retroviral integrase containing IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:24,399,003...24,419,283
Ensembl chr14:24,399,003...24,419,283 		JBrowse link
G OR10G2 olfactory receptor family 10 subfamily G member 2 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:21,633,836...21,634,940
Ensembl chr14:21,633,836...21,634,940 		JBrowse link
G OR10G3 olfactory receptor family 10 subfamily G member 3 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:21,568,520...21,580,076
Ensembl chr14:21,568,520...21,580,076 		JBrowse link
G OR4E2 olfactory receptor family 4 subfamily E member 2 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:21,653,835...21,667,642
Ensembl chr14:21,653,835...21,667,642 		JBrowse link
G OR5AU1 olfactory receptor family 5 subfamily AU member 1 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:21,154,865...21,156,063
Ensembl chr14:21,148,370...21,159,060 		JBrowse link
G OXA1L OXA1L mitochondrial inner membrane protein IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:22,766,688...22,773,042
Ensembl chr14:22,766,522...22,773,042 		JBrowse link
G PABPN1 poly(A) binding protein nuclear 1 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:23,321,457...23,326,163
Ensembl chr14:23,321,457...23,326,163 		JBrowse link
G PAX9 paired box 9 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:36,657,568...36,679,362
Ensembl chr14:36,657,568...36,679,362 		JBrowse link
G PCK2 phosphoenolpyruvate carboxykinase 2, mitochondrial IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:24,094,171...24,104,125
Ensembl chr14:24,094,053...24,110,598 		JBrowse link
G PNN pinin, desmosome associated protein IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:39,175,254...39,183,220
Ensembl chr14:39,175,183...39,183,220 		JBrowse link
G POLE2 DNA polymerase epsilon 2, accessory subunit IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:49,643,555...49,688,214
Ensembl chr14:49,643,555...49,688,422 		JBrowse link
G PPP1R3E protein phosphatase 1 regulatory subunit 3E IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:23,295,652...23,302,859
Ensembl chr14:23,295,652...23,302,859 		JBrowse link
G PPP2R3C protein phosphatase 2 regulatory subunit B''gamma IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:35,085,472...35,122,298
Ensembl chr14:35,085,467...35,122,517 		JBrowse link
G PRKD1 protein kinase D1 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:29,576,479...29,927,847
Ensembl chr14:29,576,479...30,191,898 		JBrowse link
G PRMT5 protein arginine methyltransferase 5 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:22,920,529...22,929,376
Ensembl chr14:22,920,525...22,929,408 		JBrowse link
G PRORP protein only RNase P catalytic subunit IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:35,121,839...35,277,622
Ensembl chr14:35,121,846...35,277,622 		JBrowse link
G PRPF39 pre-mRNA processing factor 39 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:45,084,116...45,116,282
Ensembl chr14:45,084,107...45,116,282 		JBrowse link
G PSMA6 proteasome 20S subunit alpha 6 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:35,278,558...35,317,493
Ensembl chr14:35,278,633...35,317,493 		JBrowse link
G PSMB11 proteasome subunit beta 11 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:23,042,212...23,044,060
Ensembl chr14:23,042,212...23,044,060 		JBrowse link
G PSMB5 proteasome 20S subunit beta 5 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:23,025,851...23,035,220
Ensembl chr14:23,016,543...23,035,230 		JBrowse link
G PSME1 proteasome activator subunit 1 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:24,136,194...24,138,962
Ensembl chr14:24,136,163...24,138,967 		JBrowse link
G PSME2 proteasome activator subunit 2 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:24,143,365...24,146,610
Ensembl chr14:24,143,362...24,147,570 		JBrowse link
G PTCSC3 papillary thyroid carcinoma susceptibility candidate 3 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:36,134,890...36,176,722
Ensembl chr14:36,130,677...36,217,284 		JBrowse link
G RAB2B RAB2B, member RAS oncogene family IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:21,459,020...21,476,959
Ensembl chr14:21,459,020...21,476,960 		JBrowse link
G RABGGTA Rab geranylgeranyltransferase subunit alpha IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:24,265,538...24,271,627
Ensembl chr14:24,265,538...24,271,611 		JBrowse link
G RALGAPA1 Ral GTPase activating protein catalytic subunit alpha 1 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:35,538,356...35,809,295
Ensembl chr14:35,538,352...35,809,304 		JBrowse link
G RBM23 RNA binding motif protein 23 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:22,893,204...22,919,149
Ensembl chr14:22,893,204...22,919,182 		JBrowse link
G REC8 REC8 meiotic recombination protein IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:24,172,080...24,180,923
Ensembl chr14:24,171,853...24,180,257 		JBrowse link
G REM2 RRAD and GEM like GTPase 2 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:22,883,222...22,887,678
Ensembl chr14:22,883,222...22,887,678 		JBrowse link
G RIPK3 receptor interacting serine/threonine kinase 3 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:24,336,025...24,339,991
Ensembl chr14:24,336,025...24,340,022 		JBrowse link
G RN7SL1 RNA component of signal recognition particle 7SL1 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:49,586,580...49,586,878
Ensembl chr14:49,586,580...49,586,878 		JBrowse link
G RN7SL2 RNA component of signal recognition particle 7SL2 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:49,862,551...49,862,849
Ensembl chr14:49,862,550...49,862,849 		JBrowse link
G RN7SL3 RNA component of signal recognition particle 7SL3 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:49,853,616...49,853,914
Ensembl chr14:49,853,616...49,853,914 		JBrowse link
G RNASE1 ribonuclease A family member 1, pancreatic IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:20,801,228...20,802,844
Ensembl chr14:20,801,228...20,802,855 		JBrowse link
G RNASE13 ribonuclease A family member 13 (inactive) IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:21,032,818...21,034,807
Ensembl chr14:21,032,818...21,034,807 		JBrowse link
G RNASE2 ribonuclease A family member 2 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:20,955,487...20,956,436
Ensembl chr14:20,955,487...20,956,436 		JBrowse link
G RNASE3 ribonuclease A family member 3 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:20,891,385...20,892,348
Ensembl chr14:20,891,385...20,892,348 		JBrowse link
G RNASE4 ribonuclease A family member 4 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:20,684,560...20,701,216
Ensembl chr14:20,684,560...20,701,216 		JBrowse link
G RNASE6 ribonuclease A family member k6 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:20,781,070...20,782,467
Ensembl chr14:20,781,268...20,782,467 		JBrowse link
G RNASE7 ribonuclease A family member 7 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:21,042,362...21,044,233
Ensembl chr14:21,042,316...21,044,234 		JBrowse link
G RNASE8 ribonuclease A family member 8 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:21,057,822...21,058,455
Ensembl chr14:21,057,822...21,058,455 		JBrowse link
G RNF212B ring finger protein 212B IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:23,185,336...23,273,477
Ensembl chr14:23,185,316...23,273,477 		JBrowse link
G RNF31 ring finger protein 31 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:24,146,875...24,160,655
Ensembl chr14:24,146,683...24,160,660 		JBrowse link
G RPGRIP1 RPGR interacting protein 1 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:21,280,083...21,351,301
Ensembl chr14:21,280,083...21,351,301 		JBrowse link
G RPL10L ribosomal protein L10 like IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:46,651,010...46,651,781
Ensembl chr14:46,651,010...46,651,781 		JBrowse link
G RPL36AL ribosomal protein L36a like IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:49,618,530...49,620,626
Ensembl chr14:49,618,530...49,620,626 		JBrowse link
G RPS29 ribosomal protein S29 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:49,570,988...49,598,710
Ensembl chr14:49,570,984...49,599,164 		JBrowse link
G SALL2 spalt like transcription factor 2 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:21,521,080...21,537,121
Ensembl chr14:21,521,080...21,537,216 		JBrowse link
G SCFD1 sec1 family domain containing 1 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:30,622,254...30,735,850
Ensembl chr14:30,622,291...30,737,694 		JBrowse link
G SDR39U1 short chain dehydrogenase/reductase family 39U member 1 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:24,439,766...24,442,843
Ensembl chr14:24,439,766...24,442,905 		JBrowse link
G SEC23A SEC23 homolog A, COPII coat complex component IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:39,031,919...39,103,235
Ensembl chr14:39,031,919...39,109,646 		JBrowse link
G SFTA3 surfactant associated 3 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome | ClinVar Annotator: match by term: Choreoathetosis, hypothyroidism, and neonatal respiratory distress		 ClinVar PMID:9536098 PMID:11854318 PMID:11854319 PMID:11971878 PMID:12891678 More... NCBI chr14:36,473,288...36,519,556
Ensembl chr14:36,473,288...36,513,829
Ensembl chr14:36,473,288...36,513,829 		JBrowse link
G SLC22A17 solute carrier family 22 member 17 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:23,346,311...23,352,887
Ensembl chr14:23,346,314...23,352,912 		JBrowse link
G SLC25A21 solute carrier family 25 member 21 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:36,677,921...37,172,606
Ensembl chr14:36,677,921...37,172,606 		JBrowse link
G SLC39A2 solute carrier family 39 member 2 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:20,999,293...21,001,871
Ensembl chr14:20,999,255...21,001,871 		JBrowse link
G SLC7A7 solute carrier family 7 member 7 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:22,773,222...22,819,791
Ensembl chr14:22,773,222...22,829,820 		JBrowse link
G SLC7A8 solute carrier family 7 member 8 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:23,125,295...23,183,660
Ensembl chr14:23,125,295...23,183,674 		JBrowse link
G SNX6 sorting nexin 6 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:34,561,093...34,630,148
Ensembl chr14:34,561,093...34,630,160 		JBrowse link
G SOS2 SOS Ras/Rho guanine nucleotide exchange factor 2 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:50,117,130...50,231,882
Ensembl chr14:50,117,130...50,231,578 		JBrowse link
G SPTSSA serine palmitoyltransferase small subunit A IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:34,432,788...34,462,240
Ensembl chr14:34,432,788...34,462,240 		JBrowse link
G SRP54 signal recognition particle 54 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:34,982,992...35,029,567
Ensembl chr14:34,981,957...35,029,686 		JBrowse link
G SSTR1 somatostatin receptor 1 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:38,207,904...38,213,067
Ensembl chr14:38,207,904...38,213,067 		JBrowse link
G STRN3 striatin 3 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:30,893,804...31,026,379
Ensembl chr14:30,893,799...31,026,401 		JBrowse link
G STXBP6 syntaxin binding protein 6 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:24,809,454...25,050,147
Ensembl chr14:24,809,454...25,050,147 		JBrowse link
G SUPT16H SPT16 homolog, facilitates chromatin remodeling subunit IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:21,351,476...21,384,019
Ensembl chr14:21,351,476...21,384,019 		JBrowse link
G TGM1 transglutaminase 1 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:24,249,114...24,263,177
Ensembl chr14:24,249,114...24,264,432 		JBrowse link
G THTPA thiamine triphosphatase IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:23,511,760...23,560,271
Ensembl chr14:23,555,988...23,560,271 		JBrowse link
G TINF2 TERF1 interacting nuclear factor 2 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:24,239,640...24,242,674
Ensembl chr14:24,238,286...24,242,663 		JBrowse link
G TM9SF1 transmembrane 9 superfamily member 1 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:24,189,149...24,195,441
Ensembl chr14:24,189,149...24,195,687 		JBrowse link
G TMEM253 transmembrane protein 253 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:21,098,836...21,103,724
Ensembl chr14:21,098,811...21,103,724 		JBrowse link
G TOGARAM1 TOG array regulator of axonemal microtubules 1 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:44,962,190...45,074,431
Ensembl chr14:44,962,190...45,074,431 		JBrowse link
G TOX4 TOX high mobility group box family member 4 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:21,477,195...21,499,170
Ensembl chr14:21,476,597...21,499,175 		JBrowse link
G TPPP2 tubulin polymerization promoting protein family member 2 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:21,024,299...21,036,352
Ensembl chr14:21,024,109...21,036,276 		JBrowse link
G TRA T cell receptor alpha locus IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:21,621,904...22,552,132 JBrowse link
G TRAPPC6B trafficking protein particle complex subunit 6B IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:39,147,814...39,170,333
Ensembl chr14:39,147,811...39,170,532 		JBrowse link
G TSSK4 testis specific serine kinase 4 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:24,205,696...24,208,248
Ensembl chr14:24,205,696...24,208,362 		JBrowse link
G TTC6 tetratricopeptide repeat domain 6 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:37,595,629...37,842,717
Ensembl chr14:37,595,629...38,041,442 		JBrowse link
G VCPKMT valosin containing protein lysine methyltransferase IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:50,102,716...50,116,572
Ensembl chr14:50,108,632...50,116,600 		JBrowse link
G ZFHX2 zinc finger homeobox 2 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:23,520,857...23,555,952
Ensembl chr14:23,520,857...23,556,192 		JBrowse link
G ZNF219 zinc finger protein 219 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:21,090,077...21,104,722
Ensembl chr14:21,090,077...21,104,722 		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 IAGP
EXP		 ClinVar Annotator: match by term: Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:8409271 PMID:25130867 PMID:25741868 PMID:28328135 PMID:28492532 More... NCBI chr 1:220,094,132...220,148,041
Ensembl chr 1:220,094,132...220,148,041 		JBrowse link
Combined Pituitary Hormone Deficiency, 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CHMP2B charged multivesicular body protein 2B IAGP ClinVar Annotator: match by term: Combined Pituitary Hormone Deficiency, Recessive ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 3:87,227,309...87,255,556
Ensembl chr 3:87,227,271...87,255,556 		JBrowse link
G LHX3 LIM homeobox 3 IAGP ClinVar Annotator: match by term: Combined Pituitary Hormone Deficiency, Recessive ClinVar NCBI chr 9:136,196,250...136,205,128
Ensembl chr 9:136,196,250...136,205,128 		JBrowse link
G POU1F1 POU class 1 homeobox 1 IAGP ClinVar Annotator: match by term: Combined Pituitary Hormone Deficiency, Recessive ClinVar PMID:25741868 PMID:26467025 PMID:28492532 PMID:31755341 NCBI chr 3:87,259,404...87,276,584
Ensembl chr 3:87,259,404...87,276,584 		JBrowse link
G PROP1 PROP paired-like homeobox 1 IAGP
EXP		 ClinVar Annotator: match by term: Pituitary hormone deficiency, combined, 2
ClinVar Annotator: match by term: Combined Pituitary Hormone Deficiency, Recessive | ClinVar Annotator: match by term: Pituitary hormone deficiency, combined, 2
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:9462743 PMID:9661653 PMID:9745452 PMID:9768691 PMID:9824293 More... NCBI chr 5:177,992,235...177,996,242
Ensembl chr 5:177,992,235...177,996,242 		JBrowse link
Combined Pituitary Hormone Deficiency, 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LHX3 LIM homeobox 3 IAGP
EXP		 ClinVar Annotator: match by term: Winkelman Bethge Pfeiffer syndrome
ClinVar Annotator: match by term: LHX3-related condition | ClinVar Annotator: match by term: Winkelman Bethge Pfeiffer syndrome
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:10835633 PMID:12780757 PMID:16199547 PMID:16394081 PMID:16940453 More... NCBI chr 9:136,196,250...136,205,128
Ensembl chr 9:136,196,250...136,205,128 		JBrowse link
congenital hypothyroidism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARPC5 actin related protein 2/3 complex subunit 5 ISO protein:decreased expression:frontal cortex (rat) RGD PMID:23459330 RGD:11049475 NCBI chr 1:183,620,846...183,635,783
Ensembl chr 1:183,620,846...183,635,783 		JBrowse link
G ATP5PD ATP synthase peripheral stalk subunit d ISO protein:altered expression:cerebral cortex (rat) RGD PMID:21575372 RGD:11049155 NCBI chr17:75,038,863...75,046,969
Ensembl chr17:75,038,863...75,046,985 		JBrowse link
G BGLAP bone gamma-carboxyglutamate protein ISO mRNA,protein:decreased expression:skull, serum RGD PMID:7920889 RGD:6483557 NCBI chr 1:156,242,184...156,243,317
Ensembl chr 1:156,242,184...156,243,317 		JBrowse link
G DUOX2 dual oxidase 2 IAGP
ISS
EXP		 ClinVar Annotator: match by term: Congenital hypothyroidism
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
RGD		 PMID:12110737 PMID:16134168 PMID:16322276 PMID:16608528 PMID:17121535 More... RGD:734905 NCBI chr15:45,092,650...45,114,172
Ensembl chr15:45,092,650...45,114,172 		JBrowse link
G DUOXA2 dual oxidase maturation factor 2 IAGP ClinVar Annotator: match by term: Congenital hypothyroidism ClinVar PMID:25741868 PMID:28492532 PMID:31980526 PMID:33651715 PMID:33692749 NCBI chr15:45,114,326...45,118,421
Ensembl chr15:45,114,326...45,118,421 		JBrowse link
G EGR1 early growth response 1 ISO RGD PMID:23079472 RGD:10395304 NCBI chr 5:138,465,479...138,469,303
Ensembl chr 5:138,465,479...138,469,303 		JBrowse link
G FOXE1 forkhead box E1 ISS MouseDO NCBI chr 9:97,853,226...97,856,717
Ensembl chr 9:97,853,226...97,856,717 		JBrowse link
G G6PD glucose-6-phosphate dehydrogenase ISO protein:decreased expression:hippocampus RGD PMID:23693027 RGD:10449124 NCBI chr  X:154,531,390...154,547,569
Ensembl chr  X:154,517,825...154,547,572 		JBrowse link
G GH1 growth hormone 1 treatment ISO RGD PMID:21162131 RGD:10003146 NCBI chr17:63,917,203...63,918,839
Ensembl chr17:63,917,200...63,918,839 		JBrowse link
G GHR growth hormone receptor treatment ISO RGD PMID:21162131 RGD:10003146 NCBI chr 5:42,423,439...42,721,878
Ensembl chr 5:42,423,439...42,721,878 		JBrowse link
G IGF1 insulin like growth factor 1 ISO protein:decreased expression:serum (rat) RGD PMID:1718729 RGD:12910128 NCBI chr12:102,395,874...102,481,839
Ensembl chr12:102,395,874...102,481,744 		JBrowse link
G IGSF1 immunoglobulin superfamily member 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:23143598 NCBI chr  X:131,273,506...131,289,464
Ensembl chr  X:131,273,506...131,578,899 		JBrowse link
G INHBB inhibin subunit beta B ISO mRNA:decreased expression:testes (rat) RGD PMID:7819453 RGD:9743921 NCBI chr 2:120,346,136...120,351,803
Ensembl chr 2:120,346,136...120,351,803 		JBrowse link
G IYD iodotyrosine deiodinase IAGP ClinVar Annotator: match by term: Congenital hypothyroidism ClinVar NCBI chr 6:150,369,012...150,405,969
Ensembl chr 6:150,368,892...150,405,969 		JBrowse link
G LOC126806316 P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:113998497-113999696 IAGP ClinVar Annotator: match by term: Congenital hypothyroidism ClinVar PMID:26362610 NCBI chr 2:113,240,920...113,242,119 JBrowse link
G NEFH neurofilament heavy chain ISO protein:decreased expression, increased phosphorylation RGD PMID:18845185 RGD:9693732 NCBI chr22:29,480,218...29,491,390
Ensembl chr22:29,480,218...29,491,390 		JBrowse link
G NEFL neurofilament light chain ISO protein:decreased expression, increased phosphorylation RGD PMID:18845185 RGD:9693732 NCBI chr 8:24,950,955...24,956,612
Ensembl chr 8:24,950,955...24,956,721 		JBrowse link
G NEFM neurofilament medium chain ISO protein:decreased expression, increased phosphorylation RGD PMID:18845185 RGD:9693732 NCBI chr 8:24,913,761...24,919,093
Ensembl chr 8:24,913,758...24,919,098 		JBrowse link
G NGFR nerve growth factor receptor treatment ISO RGD PMID:23312094 RGD:10414076 NCBI chr17:49,495,293...49,515,008
Ensembl chr17:49,495,293...49,515,008 		JBrowse link
G PAX8 paired box 8 IAGP
ISS		 nongoitrous congenital hypothyroidism 2, OMIM:218700
ClinVar Annotator: match by term: Congenital hypothyroidism		 ClinVar
MouseDO
RGD		 PMID:16763387 PMID:25146893 PMID:26362610 PMID:9590296 RGD:1600298 NCBI chr 2:113,215,997...113,278,921
Ensembl chr 2:113,215,997...113,278,921 		JBrowse link
G PAX8-AS1 PAX8 antisense RNA 1 IAGP ClinVar Annotator: match by term: Congenital hypothyroidism ClinVar PMID:16763387 PMID:25146893 PMID:26362610 NCBI chr 2:113,235,527...113,267,023
Ensembl chr 2:113,211,421...113,276,581 		JBrowse link
G PPARGC1A PPARG coactivator 1 alpha ISO mRNA:decreased expression:cerebellum (rat) RGD PMID:20515651 RGD:10059677 NCBI chr 4:23,792,021...24,472,905
Ensembl chr 4:23,755,041...23,904,089 		JBrowse link
G RUNX2 RUNX family transcription factor 2 ISS MouseDO NCBI chr 6:45,328,330...45,551,082
Ensembl chr 6:45,328,157...45,664,349 		JBrowse link
G SLC26A4 solute carrier family 26 member 4 IAGP ClinVar Annotator: match by term: Congenital hypothyroidism ClinVar NCBI chr 7:107,660,828...107,717,809
Ensembl chr 7:107,660,828...107,717,809 		JBrowse link
G SLC26A7 solute carrier family 26 member 7 IAGP
ISS		 ClinVar Annotator: match by term: Congenital hypothyroidism ClinVar
MouseDO		 PMID:31372509 NCBI chr 8:91,209,496...91,398,155
Ensembl chr 8:91,209,494...91,398,155 		JBrowse link
G SLC5A5 solute carrier family 5 member 5 IAGP iodide transport defect, OMIM:274400;DNA:point mutation:exon:T354P
ClinVar Annotator: match by term: Congenital hypothyroidism		 ClinVar
RGD		 PMID:3998954 PMID:10487695 PMID:28492532 PMID:30240412 PMID:33692749 More... RGD:1624273 NCBI chr19:17,871,945...17,895,174
Ensembl chr19:17,871,945...17,895,174 		JBrowse link
G TG thyroglobulin ISS
IAGP		 ClinVar Annotator: match by term: Congenital hypothyroidism MouseDO
ClinVar		 PMID:2584351 PMID:7593451 PMID:8325944 PMID:9588493 PMID:10404833 More... NCBI chr 8:132,866,958...133,134,899
Ensembl chr 8:132,866,958...133,134,903 		JBrowse link
G TPO thyroid peroxidase IAGP
ISS
EXP		 total iodide organification defect, OMIM:274500
ClinVar Annotator: match by term: Congenital hypothyroidism
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
RGD		 PMID:12564727 PMID:14751036 PMID:16187919 PMID:17381485 PMID:25741868 More... RGD:1599648 NCBI chr 2:1,374,047...1,543,673
Ensembl chr 2:1,374,066...1,543,711 		JBrowse link
G TRHR thyrotropin releasing hormone receptor ISS MouseDO NCBI chr 8:109,086,585...109,121,565
Ensembl chr 8:109,086,585...109,121,565 		JBrowse link
G TSHB thyroid stimulating hormone subunit beta IAGP ClinVar Annotator: match by term: Congenital hypothyroidism ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:115,029,826...115,034,309
Ensembl chr 1:115,029,826...115,034,302 		JBrowse link
G TSHR thyroid stimulating hormone receptor EXP
IAGP
ISS
ISO		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital hypothyroidism		 CTD
ClinVar
MouseDO
RGD		 PMID:11442002 PMID:12629076 PMID:15693879 PMID:16756469 PMID:17526952 More... RGD:150521601 NCBI chr14:80,955,621...81,146,306
Ensembl chr14:80,954,989...81,146,306 		JBrowse link
G TUBB1 tubulin beta 1 class VI IAGP ClinVar Annotator: match by term: Congenital hypothyroidism ClinVar PMID:25741868 PMID:28492532 PMID:28983057 PMID:30446499 PMID:32757236 More... NCBI chr20:59,016,438...59,026,654
Ensembl chr20:59,019,429...59,026,654 		JBrowse link
Congenital Nongoitrous Hypothyroidism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CEP128 centrosomal protein 128 IAGP ClinVar Annotator: match by term: TSH RESISTANCE ClinVar PMID:1955520 PMID:8964822 PMID:9385128 PMID:10037069 PMID:12050212 More... NCBI chr14:80,476,969...80,959,502
Ensembl chr14:80,476,983...80,959,517 		JBrowse link
G IGSF1 immunoglobulin superfamily member 1 IAGP ClinVar Annotator: match by term: TSH RESISTANCE ClinVar PMID:25741868 PMID:28492532 NCBI chr  X:131,273,506...131,289,464
Ensembl chr  X:131,273,506...131,578,899 		JBrowse link
G TPO thyroid peroxidase IAGP ClinVar Annotator: match by term: TSH RESISTANCE ClinVar PMID:25741868 NCBI chr 2:1,374,047...1,543,673
Ensembl chr 2:1,374,066...1,543,711 		JBrowse link
G TSHR thyroid stimulating hormone receptor treatment IAGP
ISO		 ClinVar Annotator: match by term: TSH RESISTANCE
ClinVar Annotator: match by term: HYPOTHYROIDISM, CONGENITAL, DUE TO TSH RESISTANCE | ClinVar Annotator: match by term: TSH RESISTANCE
ClinVar Annotator: match by term: HYPOTHYROIDISM DUE TO UNRESPONSIVENESS TO THYROTROPIN | ClinVar Annotator: match by term: TSH RESISTANCE		 ClinVar
RGD		 PMID:1955520 PMID:7528344 PMID:8681963 PMID:8954020 PMID:8964822 More... RGD:150521601 NCBI chr14:80,955,621...81,146,306
Ensembl chr14:80,954,989...81,146,306 		JBrowse link
congenital nongoitrous hypothyroidism 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CEP128 centrosomal protein 128 IAGP ClinVar Annotator: match by term: Hypothyroidism, congenital, nongoitrous, 1 ClinVar PMID:1955520 PMID:8964822 PMID:9385128 PMID:10037069 PMID:12050212 More... NCBI chr14:80,476,969...80,959,502
Ensembl chr14:80,476,983...80,959,517 		JBrowse link
G IGSF1 immunoglobulin superfamily member 1 IAGP ClinVar Annotator: match by term: Hypothyroidism, congenital, nongoitrous, 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr  X:131,273,506...131,289,464
Ensembl chr  X:131,273,506...131,578,899 		JBrowse link
G TPO thyroid peroxidase IAGP ClinVar Annotator: match by term: Hypothyroidism, congenital, nongoitrous, 1 ClinVar PMID:25741868 NCBI chr 2:1,374,047...1,543,673
Ensembl chr 2:1,374,066...1,543,711 		JBrowse link
G TSHR thyroid stimulating hormone receptor IAGP
EXP		 ClinVar Annotator: match by term: Hypothyroidism, congenital, nongoitrous, 1
ClinVar Annotator: match by term: HYPOTHYROIDISM, NONAUTOIMMUNE | ClinVar Annotator: match by term: Hypothyroidism, congenital, nongoitrous, 1
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD		 PMID:1955520 PMID:7528344 PMID:8681963 PMID:8954020 PMID:8964822 More... NCBI chr14:80,955,621...81,146,306
Ensembl chr14:80,954,989...81,146,306 		JBrowse link
congenital nongoitrous hypothyroidism 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FBXO31 F-box protein 31 IAGP ClinVar Annotator: match by term: Ectopic thyroid ClinVar PMID:32989326 PMID:33675180 NCBI chr16:87,326,987...87,392,121
Ensembl chr16:87,326,987...87,392,142 		JBrowse link
G LOC108281110 PAX8 promoter region IAGP ClinVar Annotator: match by term: Hypothyroidism, congenital, nongoitrous, 2 ClinVar NCBI chr 2:113,278,394...113,279,523 JBrowse link
G LOC126806316 P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:113998497-113999696 IAGP ClinVar Annotator: match by term: Hypothyroidism, congenital, nongoitrous, 2 ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:113,240,920...113,242,119 JBrowse link
G PAX8 paired box 8 IAGP
EXP		 ClinVar Annotator: match by term: Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia
ClinVar Annotator: match by term: Hypothyroidism, congenital, nongoitrous, 2
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9382140 PMID:9523167 PMID:9590296 PMID:11232006 PMID:11502839 More... NCBI chr 2:113,215,997...113,278,921
Ensembl chr 2:113,215,997...113,278,921 		JBrowse link
G PAX8-AS1 PAX8 antisense RNA 1 IAGP ClinVar Annotator: match by term: Hypothyroidism, congenital, nongoitrous, 2 ClinVar PMID:9590296 PMID:11232006 PMID:11502839 PMID:15356023 PMID:15718293 More... NCBI chr 2:113,235,527...113,267,023
Ensembl chr 2:113,211,421...113,276,581 		JBrowse link
congenital nongoitrous hypothyroidism 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TSHB thyroid stimulating hormone subunit beta IAGP
EXP		 ClinVar Annotator: match by term: Pituitary cretinism
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:1971148 PMID:2792087 PMID:8636437 PMID:9536098 PMID:9589689 More... NCBI chr 1:115,029,826...115,034,309
Ensembl chr 1:115,029,826...115,034,302 		JBrowse link
congenital nongoitrous hypothyroidism 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NKX2-5 NK2 homeobox 5 IAGP
EXP		 ClinVar Annotator: match by term: Hypothyroidism, congenital, nongoitrous, 5
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:10587520 PMID:10903346 PMID:11714651 PMID:12074273 PMID:12798584 More... NCBI chr 5:173,232,109...173,235,206
Ensembl chr 5:173,232,109...173,235,311 		JBrowse link
congenital nongoitrous hypothyroidism 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NR1D1 nuclear receptor subfamily 1 group D member 1 IAGP ClinVar Annotator: match by term: Hypothyroidism, congenital, nongoitrous, 6 ClinVar PMID:11075809 PMID:25741868 PMID:34008892 NCBI chr17:40,092,793...40,100,589
Ensembl chr17:40,092,793...40,100,589 		JBrowse link
G THRA thyroid hormone receptor alpha IAGP
EXP		 ClinVar Annotator: match by term: Hypothyroidism, congenital, nongoitrous, 6
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:11075809 PMID:22168587 PMID:22494134 PMID:24969835 PMID:25326635 More... NCBI chr17:40,062,193...40,093,867
Ensembl chr17:40,058,290...40,093,867 		JBrowse link
congenital nongoitrous hypothyroidism 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TRHR thyrotropin releasing hormone receptor IAGP ClinVar Annotator: match by term: Hypothyroidism, congenital, nongoitrous, 7 OMIM
ClinVar		 PMID:9141550 PMID:19213692 PMID:25741868 PMID:26735259 PMID:28419241 NCBI chr 8:109,086,585...109,121,565
Ensembl chr 8:109,086,585...109,121,565 		JBrowse link
congenital nongoitrous hypothyroidism 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TBL1X transducin beta like 1 X-linked IAGP ClinVar Annotator: match by term: Hypothyroidism, congenital, nongoitrous, 8 OMIM
ClinVar		 PMID:25741868 PMID:27603907 PMID:30591955 NCBI chr  X:9,463,295...9,719,740
Ensembl chr  X:9,463,320...9,741,037 		JBrowse link
congenital nongoitrous hypothyroidism 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IRS4 insulin receptor substrate 4 IAGP ClinVar Annotator: match by term: Hypothyroidism, congenital, nongoitrous, 9 OMIM
ClinVar		 PMID:25741868 PMID:30061370 NCBI chr  X:108,719,946...108,736,563
Ensembl chr  X:108,719,946...108,736,563 		JBrowse link
familial thyroid dyshormonogenesis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DUOX2 dual oxidase 2 IAGP ClinVar Annotator: match by term: Familial thyroid dyshormonogenesis ClinVar PMID:12110737 PMID:16322276 PMID:18765513 PMID:20972728 PMID:21565790 More... NCBI chr15:45,092,650...45,114,172
Ensembl chr15:45,092,650...45,114,172 		JBrowse link
G SLC5A5 solute carrier family 5 member 5 IAGP ClinVar Annotator: match by term: Thyroid Hormonogenesis Defect ClinVar NCBI chr19:17,871,945...17,895,174
Ensembl chr19:17,871,945...17,895,174 		JBrowse link
G TG thyroglobulin IAGP ClinVar Annotator: match by term: Thyroid dyshormonogenesis ClinVar PMID:28492532 NCBI chr 8:132,866,958...133,134,899
Ensembl chr 8:132,866,958...133,134,903 		JBrowse link
Gigantism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANKRD26 ankyrin repeat domain containing 26 ISO RGD PMID:18162531 RGD:9681744 NCBI chr10:26,947,582...27,100,494
Ensembl chr10:26,973,793...27,100,494 		JBrowse link
G NSD1 nuclear receptor binding SET domain protein 1 IAGP DNA:missense mutation:cds:6605G>A(p.C2202Y)(human) RGD PMID:16222665 RGD:11568154 NCBI chr 5:177,131,798...177,300,213
Ensembl chr 5:177,131,830...177,300,213 		JBrowse link
Idiopathic Short Stature, Autosomal term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GHR growth hormone receptor IAGP
EXP		 ClinVar Annotator: match by term: Short stature, idiopathic, autosomal
ClinVar Annotator: match by term: Growth hormone, insensitivity to, partial
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: GROWTH HORMONE DEFICIENCY, ISOLATED PARTIAL		 ClinVar
CTD
OMIM		 PMID:7565946 PMID:8504296 PMID:9140387 PMID:9360502 PMID:9814495 More... NCBI chr 5:42,423,439...42,721,878
Ensembl chr 5:42,423,439...42,721,878 		JBrowse link
G GHSR growth hormone secretagogue receptor IAGP ClinVar Annotator: match by term: Short stature, idiopathic, autosomal ClinVar NCBI chr 3:172,443,291...172,448,456
Ensembl chr 3:172,443,291...172,448,456 		JBrowse link
G IGFALS insulin like growth factor binding protein acid labile subunit IAGP DNA:missense mutation:exon:p.L127P (c.380T>C) (human) RGD PMID:23488611 RGD:12910853 NCBI chr16:1,790,413...1,794,908
Ensembl chr16:1,790,413...1,794,971 		JBrowse link
G LOC107963950 GHR upstream promoter region module A IAGP ClinVar Annotator: match by term: Short stature, idiopathic, autosomal ClinVar PMID:25741868 NCBI chr 5:42,422,722...42,425,061 JBrowse link
G SPAG17 sperm associated antigen 17 IAGP DNA:snp:enhancer:C>G (rs17038182) (human) RGD PMID:19893584 RGD:11535959 NCBI chr 1:117,953,590...118,185,228
Ensembl chr 1:117,953,590...118,185,228 		JBrowse link
isolated growth hormone deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADNP activity dependent neuroprotector homeobox IAGP ClinVar Annotator: match by term: Growth hormone deficiency ClinVar PMID:24531329 PMID:25741868 PMID:27031564 PMID:28135719 PMID:28221363 More... NCBI chr20:50,888,918...50,931,437
Ensembl chr20:50,888,916...50,931,437 		JBrowse link
G GH-LCR growth hormone locus control region IAGP ClinVar Annotator: match by term: Growth hormone deficiency
ClinVar Annotator: match by term: Growth hormone deficiency | ClinVar Annotator: match by term: Isolated congenital growth hormone deficiency		 ClinVar PMID:9152628 PMID:12655556 PMID:12655557 PMID:13572267 PMID:15001589 More... NCBI chr17:63,917,193...63,958,852 JBrowse link
G GH1 growth hormone 1 IAGP
ISO		 DNA:deletions: :
ClinVar Annotator: match by term: Growth hormone deficiency
ClinVar Annotator: match by term: Growth hormone deficiency | ClinVar Annotator: match by term: Isolated congenital growth hormone deficiency		 ClinVar
RGD		 PMID:9152628 PMID:12655556 PMID:12655557 PMID:13572267 PMID:15001589 More... RGD:12904703, RGD:1578505 NCBI chr17:63,917,203...63,918,839
Ensembl chr17:63,917,200...63,918,839 		JBrowse link
G GHR growth hormone receptor IAGP Laron syndrome,OMIM:262500;DNA:deletion RGD PMID:2813379 RGD:1601315 NCBI chr 5:42,423,439...42,721,878
Ensembl chr 5:42,423,439...42,721,878 		JBrowse link
G GHRHR growth hormone releasing hormone receptor ISO
IAGP		 DNA:deletion
ClinVar Annotator: match by term: Isolated congenital growth hormone deficiency
isolated growth hormone deficiency IB,OMIM:262400;DNA:point mutation:exon:E72X		 ClinVar
RGD		 PMID:9845677 PMID:8528260 RGD:1601338, RGD:1601337 NCBI chr 7:30,963,953...30,979,528
Ensembl chr 7:30,938,669...30,993,254 		JBrowse link
G GHSR growth hormone secretagogue receptor ISO mRNA:increased expression:pituitary: RGD PMID:9822798 RGD:12904721 NCBI chr 3:172,443,291...172,448,456
Ensembl chr 3:172,443,291...172,448,456 		JBrowse link
G HPCA hippocalcin ISO protein:altered expression:cerebral cortex, cerebellum, hippocampus (mouse) RGD PMID:7882001 RGD:9693682 NCBI chr 1:32,885,996...32,894,646
Ensembl chr 1:32,885,994...32,898,441 		JBrowse link
G IGFALS insulin like growth factor binding protein acid labile subunit IEP protein:decreased expression:serum RGD PMID:11248743 RGD:12910859 NCBI chr16:1,790,413...1,794,908
Ensembl chr16:1,790,413...1,794,971 		JBrowse link
G POU1F1 POU class 1 homeobox 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:9392392 NCBI chr 3:87,259,404...87,276,584
Ensembl chr 3:87,259,404...87,276,584 		JBrowse link
G RNPC3 RNA binding region (RNP1, RRM) containing 3 IAGP ClinVar Annotator: match by term: Growth hormone deficiency ClinVar PMID:24480542 PMID:29255062 NCBI chr 1:103,525,699...103,555,239
Ensembl chr 1:103,525,691...103,555,239 		JBrowse link
G TG thyroglobulin ISO RGD PMID:11089535 PMID:3366187 RGD:730133, RGD:12880373 NCBI chr 8:132,866,958...133,134,899
Ensembl chr 8:132,866,958...133,134,903 		JBrowse link
isolated growth hormone deficiency type IA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BRCA2 BRCA2 DNA repair associated IAGP ClinVar Annotator: match by term: Growth hormone deficiency, isolated autosomal recessive ClinVar PMID:24389050 PMID:25558065 NCBI chr13:32,315,508...32,400,268
Ensembl chr13:32,315,086...32,400,268 		JBrowse link
G CRIPT CXXC repeat containing interactor of PDZ3 domain IAGP ClinVar Annotator: match by term: Pituitary dwarfism 1 ClinVar PMID:24389050 PMID:25558065 NCBI chr 2:46,617,215...46,630,176
Ensembl chr 2:46,616,416...46,630,176 		JBrowse link
G CSHL1 chorionic somatomammotropin hormone like 1 IAGP ClinVar Annotator: match by term: Pituitary dwarfism 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr17:63,909,608...63,911,258
Ensembl chr17:63,909,597...63,911,341 		JBrowse link
G DNA2 DNA replication helicase/nuclease 2 IAGP DNA:mutation:cds:
ClinVar Annotator: match by term: Pituitary dwarfism 1		 ClinVar
RGD		 PMID:24389050 PMID:25558065 PMID:24389050 RGD:8694132 NCBI chr10:68,414,064...68,472,521
Ensembl chr10:68,414,064...68,472,121 		JBrowse link
G GH-LCR growth hormone locus control region IAGP ClinVar Annotator: match by term: Pituitary dwarfism 1
ClinVar Annotator: match by term: Isolated growth hormone deficiency type 1B | ClinVar Annotator: match by term: Pituitary dwarfism 1		 ClinVar PMID:8496314 PMID:8530604 PMID:9152628 PMID:10372722 PMID:10445339 More... NCBI chr17:63,917,193...63,958,852 JBrowse link
G GH1 growth hormone 1 IAGP
EXP		 DNA:deletion: :
ClinVar Annotator: match by term: Pituitary dwarfism 1
ClinVar Annotator: match by term: Isolated growth hormone deficiency type 1B | ClinVar Annotator: match by term: Pituitary dwarfism 1
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM
RGD		 PMID:2347891 PMID:8364549 PMID:8496314 PMID:8530604 PMID:9152628 More... RGD:12904729 NCBI chr17:63,917,203...63,918,839
Ensembl chr17:63,917,200...63,918,839 		JBrowse link
G GHRH growth hormone releasing hormone ISS OMIM:262400 MouseDO NCBI chr20:37,251,086...37,261,814
Ensembl chr20:37,251,086...37,261,819 		JBrowse link
G GHRHR growth hormone releasing hormone receptor IAGP ClinVar Annotator: match by term: Isolated growth hormone deficiency type 1B ClinVar PMID:10944436 PMID:10946881 PMID:11298081 PMID:11502843 PMID:12163232 More... NCBI chr 7:30,963,953...30,979,528
Ensembl chr 7:30,938,669...30,993,254 		JBrowse link
G POC1A POC1 centriolar protein A IAGP ClinVar Annotator: match by term: Pituitary dwarfism 1 ClinVar PMID:22840364 PMID:25558065 PMID:25741868 PMID:26336158 PMID:26374189 More... NCBI chr 3:52,075,226...52,154,423
Ensembl chr 3:52,075,226...52,154,690 		JBrowse link
G XRCC4 X-ray repair cross complementing 4 IAGP ClinVar Annotator: match by term: Pituitary dwarfism 1 ClinVar PMID:24389050 PMID:25558065 PMID:25728776 PMID:25741868 PMID:26255102 NCBI chr 5:83,077,547...83,374,473
Ensembl chr 5:83,077,498...83,353,787 		JBrowse link
isolated growth hormone deficiency type IB term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GH-LCR growth hormone locus control region IAGP ClinVar Annotator: match by term: Isolated growth hormone deficiency type IB
ClinVar Annotator: match by term: Idiopathic growth hormone deficiency
ClinVar Annotator: match by term: IGHD IB		 ClinVar PMID:8496314 PMID:8530604 PMID:9152628 PMID:10372722 PMID:10445339 More... NCBI chr17:63,917,193...63,958,852 JBrowse link
G GH1 growth hormone 1 IAGP
EXP		 ClinVar Annotator: match by term: Idiopathic growth hormone deficiency
ClinVar Annotator: match by term: Isolated growth hormone deficiency type IB
ClinVar Annotator: match by term: IGHD IB
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:8496314 PMID:8530604 PMID:9152628 PMID:10372722 PMID:10445339 More... NCBI chr17:63,917,203...63,918,839
Ensembl chr17:63,917,200...63,918,839 		JBrowse link
G GHRHR growth hormone releasing hormone receptor IAGP ClinVar Annotator: match by term: Isolated growth hormone deficiency type IB
ClinVar Annotator: match by term: DWARFISM OF SINDH
ClinVar Annotator: match by term: DWARFISM OF SINDH | ClinVar Annotator: match by term: Isolated growth hormone deficiency type IB		 ClinVar
OMIM		 PMID:8528260 PMID:9467553 PMID:9814493 PMID:10084571 PMID:10566659 More... NCBI chr 7:30,963,953...30,979,528
Ensembl chr 7:30,938,669...30,993,254 		JBrowse link
isolated growth hormone deficiency type II term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GH-LCR growth hormone locus control region IAGP ClinVar Annotator: match by term: Pituitary dwarfism due to isolated growth hormone deficiency autosomal dominant
ClinVar Annotator: match by term: IGHD II | ClinVar Annotator: match by term: Pituitary dwarfism due to isolated growth hormone deficiency autosomal dominant		 ClinVar PMID:7567462 PMID:7714096 PMID:8530604 PMID:8923859 PMID:9152628 More... NCBI chr17:63,917,193...63,958,852 JBrowse link
G GH1 growth hormone 1 IAGP
ISS
EXP		 ClinVar Annotator: match by term: Pituitary dwarfism due to isolated growth hormone deficiency autosomal dominant
ClinVar Annotator: match by term: IGHD II | ClinVar Annotator: match by term: Pituitary dwarfism due to isolated growth hormone deficiency autosomal dominant
OMIM:173100
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM		 PMID:7567462 PMID:7714096 PMID:8530604 PMID:8923859 PMID:9152628 More... NCBI chr17:63,917,203...63,918,839
Ensembl chr17:63,917,200...63,918,839 		JBrowse link
G MED13 mediator complex subunit 13 IAGP ClinVar Annotator: match by term: Pituitary dwarfism due to isolated growth hormone deficiency autosomal dominant ClinVar PMID:25741868 NCBI chr17:61,942,605...62,065,278
Ensembl chr17:61,942,605...62,065,278 		JBrowse link
isolated growth hormone deficiency type III term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARL13A ADP ribosylation factor like GTPase 13A IAGP ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:100,969,708...100,990,831
Ensembl chr  X:100,969,708...100,990,831 		JBrowse link
G ARMCX1 armadillo repeat containing X-linked 1 IAGP ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:101,550,547...101,554,700
Ensembl chr  X:101,550,547...101,554,700 		JBrowse link
G ARMCX2 armadillo repeat containing X-linked 2 IAGP ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:101,655,281...101,659,850
Ensembl chr  X:101,655,281...101,659,850 		JBrowse link
G ARMCX3 armadillo repeat containing X-linked 3 IAGP ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:101,623,151...101,627,843
Ensembl chr  X:101,622,797...101,627,843 		JBrowse link
G ARMCX3-AS1 ARMCX3 antisense RNA 1 IAGP ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 Ensembl chr  X:101,622,983...101,624,164 JBrowse link
G ARMCX4 armadillo repeat containing X-linked 4 IAGP ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:101,418,278...101,535,988
Ensembl chr  X:101,418,287...101,533,459 		JBrowse link
G ARMCX6 armadillo repeat containing X-linked 6 IAGP ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:101,615,125...101,618,000
Ensembl chr  X:101,615,118...101,618,001 		JBrowse link
G BTK Bruton tyrosine kinase IAGP
EXP		 ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:1240516 PMID:2896233 PMID:3486747 PMID:4697357 PMID:7627183 More... NCBI chr  X:101,349,450...101,390,796
Ensembl chr  X:101,349,338...101,390,796 		JBrowse link
G CENPI centromere protein I IAGP ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:101,098,204...101,181,859
Ensembl chr  X:101,098,188...101,166,126 		JBrowse link
G CSTF2 cleavage stimulation factor subunit 2 IAGP ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:100,820,391...100,841,520
Ensembl chr  X:100,820,391...100,841,520 		JBrowse link
G DRP2 dystrophin related protein 2 IAGP ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:101,219,786...101,264,502
Ensembl chr  X:101,219,769...101,264,502 		JBrowse link
G GLA galactosidase alpha IAGP ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:101,397,803...101,407,925
Ensembl chr  X:101,393,273...101,408,012 		JBrowse link
G HNRNPH2 heterogeneous nuclear ribonucleoprotein H2 IAGP ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:101,408,222...101,414,133
Ensembl chr  X:101,408,222...101,414,133 		JBrowse link
G NOX1 NADPH oxidase 1 IAGP ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:100,843,324...100,874,359
Ensembl chr  X:100,843,324...100,874,359 		JBrowse link
G NXF5 nuclear RNA export factor 5 IAGP ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:101,832,112...101,857,577
Ensembl chr  X:101,832,537...101,843,278
Ensembl chr  X:101,832,537...101,843,278 		JBrowse link
G PCDH19 protocadherin 19 IAGP ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:100,291,644...100,410,273
Ensembl chr  X:100,291,644...100,410,273 		JBrowse link
G RPL36A ribosomal protein L36a IAGP ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:101,391,011...101,396,155
Ensembl chr  X:101,390,824...101,396,155 		JBrowse link
G RPL36A-HNRNPH2 RPL36A-HNRNPH2 readthrough IAGP ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:101,391,011...101,414,133
Ensembl chr  X:101,391,011...101,412,297 		JBrowse link
G SRPX2 sushi repeat containing protein X-linked 2 IAGP ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:100,644,199...100,675,788
Ensembl chr  X:100,644,195...100,675,788 		JBrowse link
G SYTL4 synaptotagmin like 4 IAGP ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:100,674,491...100,732,121
Ensembl chr  X:100,671,783...100,732,123 		JBrowse link
G TAF7L TATA-box binding protein associated factor 7 like IAGP ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:101,268,257...101,293,083
Ensembl chr  X:101,268,253...101,293,057 		JBrowse link
G TIMM8A translocase of inner mitochondrial membrane 8A IAGP ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:7711734 PMID:9445504 PMID:9545398 PMID:11956200 PMID:21984432 More... NCBI chr  X:101,345,661...101,348,742
Ensembl chr  X:101,345,661...101,348,742 		JBrowse link
G TMEM35A transmembrane protein 35A IAGP ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:101,078,879...101,096,367
Ensembl chr  X:101,078,879...101,096,367 		JBrowse link
G TNMD tenomodulin IAGP ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:100,584,936...100,599,885
Ensembl chr  X:100,584,936...100,599,885 		JBrowse link
G TRMT2B tRNA methyltransferase 2 homolog B IAGP ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:100,973,366...101,052,111
Ensembl chr  X:101,009,346...101,052,116 		JBrowse link
G TSPAN6 tetraspanin 6 IAGP ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:100,627,108...100,637,104
Ensembl chr  X:100,627,108...100,639,991 		JBrowse link
G XKRX XK related X-linked IAGP ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:100,886,916...100,959,343
Ensembl chr  X:100,913,445...100,929,433 		JBrowse link
Isolated Growth Hormone Deficiency Type V term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RNPC3 RNA binding region (RNP1, RRM) containing 3 IAGP ClinVar Annotator: match by term: PITUITARY HORMONE DEFICIENCY, COMBINED OR ISOLATED, 7 ClinVar
OMIM		 PMID:24480542 PMID:25741868 PMID:29255062 PMID:32462814 PMID:33650182 NCBI chr 1:103,525,699...103,555,239
Ensembl chr 1:103,525,691...103,555,239 		JBrowse link
Isolated Growth Hormone Deficiency, Partial term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GHR growth hormone receptor IAGP ClinVar Annotator: match by term: GROWTH HORMONE DEFICIENCY, ISOLATED PARTIAL
ClinVar Annotator: match by term: Short stature due to growth hormone secretagogue receptor deficiency		 ClinVar PMID:7565946 PMID:8504296 PMID:9140387 PMID:9360502 PMID:9814495 More... NCBI chr 5:42,423,439...42,721,878
Ensembl chr 5:42,423,439...42,721,878 		JBrowse link
G GHSR growth hormone secretagogue receptor IAGP ClinVar Annotator: match by term: Short stature due to growth hormone secretagogue receptor deficiency
ClinVar Annotator: match by term: GROWTH HORMONE DEFICIENCY, ISOLATED PARTIAL | ClinVar Annotator: match by term: Short stature due to growth hormone secretagogue receptor deficiency		 ClinVar
OMIM		 PMID:14715843 PMID:16511605 PMID:17596538 PMID:17717076 PMID:19789204 More... NCBI chr 3:172,443,291...172,448,456
Ensembl chr 3:172,443,291...172,448,456 		JBrowse link
G LOC107963950 GHR upstream promoter region module A IAGP ClinVar Annotator: match by term: GROWTH HORMONE DEFICIENCY, ISOLATED PARTIAL ClinVar PMID:25741868 NCBI chr 5:42,422,722...42,425,061 JBrowse link
Kowarski Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GH-LCR growth hormone locus control region IAGP ClinVar Annotator: match by term: Pituitary dwarfism with normal immunoreactive growth hormone and low somatomedin ClinVar PMID:8530604 PMID:8552145 PMID:9152628 PMID:9276733 PMID:10372722 More... NCBI chr17:63,917,193...63,958,852 JBrowse link
G GH1 growth hormone 1 IAGP
EXP		 DNA:point mutation:exon:p.D122G (human)
ClinVar Annotator: match by term: Pituitary dwarfism with normal immunoreactive growth hormone and low somatomedin
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM
RGD		 PMID:8530604 PMID:8552145 PMID:9152628 PMID:9276733 PMID:10372722 More... RGD:1601313 NCBI chr17:63,917,203...63,918,839
Ensembl chr17:63,917,200...63,918,839 		JBrowse link
neonatal diabetes mellitus with congenital hypothyroidism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GLIS3 GLIS family zinc finger 3 IAGP
ISS
EXP		 ClinVar Annotator: match by term: Neonatal diabetes mellitus with congenital hypothyroidism
ClinVar Annotator: match by term: NDH SYNDROME | ClinVar Annotator: match by term: Neonatal diabetes mellitus with congenital hypothyroidism
OMIM:610199
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM		 PMID:12966531 PMID:16715098 PMID:18263616 PMID:18414213 PMID:23856252 More... NCBI chr 9:3,824,127...4,490,465
Ensembl chr 9:3,824,127...4,348,392 		JBrowse link
G GLIS3-AS1 GLIS3 antisense RNA 1 IAGP ClinVar Annotator: match by term: Neonatal diabetes mellitus with congenital hypothyroidism ClinVar PMID:25741868 PMID:27899417 PMID:28492532 PMID:29146476 PMID:29992946 More... NCBI chr 9:3,898,646...3,901,248
Ensembl chr 9:3,898,642...3,901,248 		JBrowse link
G GLIS3-AS2 GLIS3 antisense RNA 2 IAGP ClinVar Annotator: match by term: Neonatal diabetes mellitus with congenital hypothyroidism ClinVar NCBI chr 9:4,299,301...4,309,894 JBrowse link
Ohdo syndrome, SBBYS variant term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KAT6B lysine acetyltransferase 6B IAGP
EXP		 DNA:mutations:cds:multiple (human)
ClinVar Annotator: match by term: Blepharophimosis - intellectual disability syndrome, SBBYS type | ClinVar Annotator: match by term: Say-Barber-Biesecker-Young-Simpson variant of Ohdo Syndrome
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM
RGD		 PMID:8055130 PMID:18798845 PMID:21344633 PMID:22077973 PMID:22265014 More... RGD:9588484 NCBI chr10:74,824,936...75,032,624
Ensembl chr10:74,824,927...75,032,624 		JBrowse link
G SMARCA2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 IAGP ClinVar Annotator: match by term: Blepharophimosis - intellectual disability syndrome ClinVar PMID:32694869 NCBI chr 9:2,015,347...2,193,624
Ensembl chr 9:1,980,290...2,193,624 		JBrowse link
G UBE3B ubiquitin protein ligase E3B IAGP ClinVar Annotator: match by term: Blepharophimosis - intellectual disability syndrome ClinVar PMID:25741868 NCBI chr12:109,477,634...109,547,829
Ensembl chr12:109,477,402...109,536,705 		JBrowse link
Pendred syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CLDN9 claudin 9 IAGP ClinVar Annotator: match by term: Pendred syndrome ClinVar PMID:30311386 PMID:35802133 PMID:36633841 NCBI chr16:3,012,923...3,014,505
Ensembl chr16:3,012,923...3,014,505 		JBrowse link
G DIAPH1 diaphanous related formin 1 IAGP ClinVar Annotator: match by term: Pendred syndrome ClinVar PMID:30311386 NCBI chr 5:141,515,021...141,619,000
Ensembl chr 5:141,515,016...141,619,055 		JBrowse link
G FOXI1 forkhead box I1 IAGP
ISS
EXP		 ClinVar Annotator: match by term: Pendred syndrome
ClinVar Annotator: match by term: Goiter-deafness syndrome
ClinVar Annotator: match by term: Goiter-deafness syndrome | ClinVar Annotator: match by term: SLC26A4-related condition
OMIM:274600
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD		 PMID:17503324 PMID:25741868 PMID:28492532 PMID:30311386 NCBI chr 5:170,105,897...170,109,737
Ensembl chr 5:170,105,897...170,109,734 		JBrowse link
G KCNJ10 potassium inwardly rectifying channel subfamily J member 10 EXP
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Goiter-deafness syndrome
ClinVar Annotator: match by term: Pendred syndrome		 CTD
ClinVar		 PMID:19289823 PMID:20651251 PMID:20678478 PMID:20807765 PMID:21088294 More... NCBI chr 1:160,037,467...160,070,160
Ensembl chr 1:159,998,651...160,070,160 		JBrowse link
G LOC123956210 Sharpr-MPRA regulatory region 3291 IAGP ClinVar Annotator: match by term: Pendred syndrome
ClinVar Annotator: match by term: SLC26A4-related condition
ClinVar Annotator: match by term: Goiter-deafness syndrome		 ClinVar PMID:9618166 PMID:9618167 PMID:10190331 PMID:10902795 PMID:11405873 More... NCBI chr 7:107,709,864...107,710,158 JBrowse link
G MYO7A myosin VIIA IAGP ClinVar Annotator: match by term: Pendred syndrome ClinVar PMID:24033266 PMID:28492532 PMID:30311386 PMID:30718709 NCBI chr11:77,128,246...77,215,241
Ensembl chr11:77,128,246...77,215,241 		JBrowse link
G OTOF otoferlin IAGP ClinVar Annotator: match by term: Pendred syndrome ClinVar PMID:30311386 NCBI chr 2:26,457,203...26,558,756
Ensembl chr 2:26,457,203...26,558,756 		JBrowse link
G SLC26A4 solute carrier family 26 member 4 ISO
IAGP
ISS
EXP		 ClinVar Annotator: match by term: SLC26A4-related condition
ClinVar Annotator: match by term: Pendred syndrome | ClinVar Annotator: match by term: SLC26A4-related condition
ClinVar Annotator: match by term: Goiter-deafness syndrome | ClinVar Annotator: match by term: Pendred syndrome | ClinVar Annotator: match by term: SLC26A4-related condition
ClinVar Annotator: match by term: Goiter-deafness syndrome | ClinVar Annotator: match by term: SLC26A4-related condition
OMIM:274600
ClinVar Annotator: match by term: HYPOTHYROIDISM, CONGENITAL, DUE TO DYSHORMONOGENESIS, 2B
CTD Direct Evidence: marker/mechanism
DNA:mutations:multiple (human)		 ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:1920407 PMID:2422447 PMID:8285825 PMID:8541853 PMID:8630498 More... RGD:7411554, RGD:7421514, RGD:7421510 NCBI chr 7:107,660,828...107,717,809
Ensembl chr 7:107,660,828...107,717,809 		JBrowse link
G SLC26A4-AS1 SLC26A4 antisense RNA 1 IAGP ClinVar Annotator: match by term: Pendred syndrome
ClinVar Annotator: match by term: SLC26A4-related condition
ClinVar Annotator: match by term: Goiter-deafness syndrome		 ClinVar PMID:9536098 PMID:11317356 PMID:11748854 PMID:11919333 PMID:12642503 More... NCBI chr 7:107,656,516...107,661,798
Ensembl chr 7:107,650,260...107,662,204 		JBrowse link
Rahman Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G H1-4 H1.4 linker histone, cluster member IAGP ClinVar Annotator: match by term: Rahman syndrome OMIM
ClinVar		 PMID:23945933 PMID:25081361 PMID:25741868 PMID:25741869 PMID:28475857 More... NCBI chr 6:26,156,329...26,157,115
Ensembl chr 6:26,156,329...26,157,115 		JBrowse link
Simpson-Golabi-Behmel syndrome type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GPC3 glypican 3 IAGP
ISS
EXP
ISO		 ClinVar Annotator: match by term: Simpson-Golabi-Behmel syndrome type 1
ClinVar Annotator: match by term: Dysplasia gigantism syndrome, X-linked | ClinVar Annotator: match by term: Simpson-Golabi-Behmel syndrome type 1
OMIM:312870
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:9950367 PMID:10402475 PMID:10814714 PMID:12713262 PMID:16158429 More... RGD:243065142 NCBI chr  X:133,535,745...133,985,594
Ensembl chr  X:133,535,745...133,987,100 		JBrowse link
G GPC4 glypican 4 EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr  X:133,300,103...133,415,489
Ensembl chr  X:133,300,103...133,415,489 		JBrowse link
G MED12 mediator complex subunit 12 IAGP ClinVar Annotator: match by term: Simpson-Golabi-Behmel syndrome type 1 ClinVar PMID:25741868 NCBI chr  X:71,118,596...71,142,450
Ensembl chr  X:71,118,543...71,144,103 		JBrowse link
G RETSAT retinol saturase EXP CTD Direct Evidence: marker/mechanism CTD PMID:19139408 NCBI chr 2:85,341,955...85,354,528
Ensembl chr 2:85,341,955...85,354,531 		JBrowse link
Tatton-Brown-Rahman syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABHD1 abhydrolase domain containing 1 IAGP ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr 2:27,123,815...27,130,812
Ensembl chr 2:27,123,789...27,130,812 		JBrowse link
G ADCY3 adenylate cyclase 3 IAGP ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:24614070 PMID:26866722 PMID:28492532 PMID:29900417 NCBI chr 2:24,819,169...24,920,237
Ensembl chr 2:24,819,169...24,920,237 		JBrowse link
G ADGRF3 adhesion G protein-coupled receptor F3 IAGP ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr 2:26,308,173...26,346,789
Ensembl chr 2:26,308,173...26,346,817 		JBrowse link
G AGBL5 AGBL carboxypeptidase 5 IAGP ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr 2:27,050,364...27,070,618
Ensembl chr 2:27,042,364...27,070,622 		JBrowse link
G ASXL2 ASXL transcriptional regulator 2 IAGP ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:24614070 PMID:26866722 PMID:28492532 PMID:29900417 NCBI chr 2:25,733,753...25,878,487
Ensembl chr 2:25,733,753...25,878,487 		JBrowse link
G ATRAID all-trans retinoic acid induced differentiation factor IAGP ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr 2:27,212,041...27,217,183
Ensembl chr 2:27,212,041...27,217,178 		JBrowse link
G BABAM2 BRISC and BRCA1 A complex member 2 IAGP ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr 2:27,888,709...28,338,901
Ensembl chr 2:27,889,941...28,338,901 		JBrowse link
G CAD carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase IAGP ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr 2:27,217,369...27,243,943
Ensembl chr 2:27,217,369...27,243,943 		JBrowse link
G CCDC121 coiled-coil domain containing 121 IAGP ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr 2:27,625,638...27,629,012
Ensembl chr 2:27,625,638...27,629,012 		JBrowse link
G CENPA centromere protein A IAGP ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr 2:26,786,056...26,794,589
Ensembl chr 2:26,764,289...26,801,067 		JBrowse link
G CENPO centromere protein O IAGP ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:24614070 PMID:26866722 PMID:28492532 PMID:29900417 NCBI chr 2:24,793,425...24,822,376
Ensembl chr 2:24,793,136...24,822,376 		JBrowse link
G CGREF1 cell growth regulator with EF-hand domain 1 IAGP ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr 2:27,099,353...27,119,128
Ensembl chr 2:27,098,889...27,119,128 		JBrowse link
G CIB4 calcium and integrin binding family member 4 IAGP ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr 2:26,581,205...26,641,366
Ensembl chr 2:26,581,205...26,641,366 		JBrowse link
G CIMIP2C ciliary microtubule inner protein 2C IAGP ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr 2:26,562,587...26,579,524
Ensembl chr 2:26,562,585...26,579,532 		JBrowse link
G DNAJC27 DnaJ heat shock protein family (Hsp40) member C27 IAGP ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:24614070 PMID:26866722 PMID:28492532 PMID:29900417 NCBI chr 2:24,943,636...24,972,094
Ensembl chr 2:24,943,636...24,972,094 		JBrowse link
G DNAJC5G DnaJ heat shock protein family (Hsp40) member C5 gamma IAGP ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr 2:27,275,433...27,281,499
Ensembl chr 2:27,275,433...27,281,499 		JBrowse link
G DNMT3A DNA methyltransferase 3 alpha IAGP
EXP		 ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:9536098 PMID:11836534 PMID:15456878 PMID:16199547 PMID:17576681 More... NCBI chr 2:25,227,874...25,342,590
Ensembl chr 2:25,227,855...25,342,590 		JBrowse link
G DPYSL5 dihydropyrimidinase like 5 IAGP ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr 2:26,847,995...26,950,351
Ensembl chr 2:26,847,747...26,950,351 		JBrowse link
G DRC1 dynein regulatory complex subunit 1 IAGP ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr 2:26,401,920...26,456,711
Ensembl chr 2:26,401,920...26,456,711 		JBrowse link
G DTNB dystrobrevin beta IAGP ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:24614070 PMID:26866722 PMID:28492532 PMID:29900417 NCBI chr 2:25,377,243...25,673,577
Ensembl chr 2:25,377,198...25,673,647 		JBrowse link
G EFR3B EFR3 homolog B IAGP ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:24614070 PMID:26866722 PMID:28492532 PMID:29900417 NCBI chr 2:25,042,076...25,159,135
Ensembl chr 2:25,042,076...25,159,135 		JBrowse link
G EIF2B4 eukaryotic translation initiation factor 2B subunit delta IAGP ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr 2:27,364,352...27,370,338
Ensembl chr 2:27,364,352...27,370,338 		JBrowse link
G EMILIN1 elastin microfibril interfacer 1 IAGP ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr 2:27,078,615...27,086,403
Ensembl chr 2:27,078,615...27,086,403 		JBrowse link
G FNDC4 fibronectin type III domain containing 4 IAGP ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr 2:27,491,883...27,495,200
Ensembl chr 2:27,491,883...27,495,200 		JBrowse link
G FOSL2 FOS like 2, AP-1 transcription factor subunit IAGP ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr 2:28,392,858...28,417,317
Ensembl chr 2:28,392,448...28,417,317 		JBrowse link
G GAREM2 GRB2 associated regulator of MAPK1 subtype 2 IAGP ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr 2:26,173,088...26,204,304
Ensembl chr 2:26,173,088...26,189,663 		JBrowse link
G GCKR glucokinase regulator IAGP ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr 2:27,496,839...27,523,684
Ensembl chr 2:27,496,839...27,523,684 		JBrowse link
G GPN1 GPN-loop GTPase 1 IAGP ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr 2:27,628,247...27,651,511
Ensembl chr 2:27,628,247...27,651,511 		JBrowse link
G GTF3C2 general transcription factor IIIC subunit 2 IAGP ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr 2:27,325,854...27,356,764
Ensembl chr 2:27,325,849...27,356,999 		JBrowse link
G HADHA hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha IAGP ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr 2:26,190,635...26,244,632
Ensembl chr 2:26,190,635...26,244,672 		JBrowse link
G HADHB hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta IAGP ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr 2:26,244,939...26,290,465
Ensembl chr 2:26,243,170...26,290,465 		JBrowse link
G IFT172 intraflagellar transport 172 IAGP ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr 2:27,444,377...27,489,743
Ensembl chr 2:27,444,377...27,489,805 		JBrowse link
G ITSN2 intersectin 2 IAGP ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:24614070 PMID:26866722 PMID:28492532 PMID:29900417 NCBI chr 2:24,202,864...24,361,368
Ensembl chr 2:24,202,864...24,360,536 		JBrowse link
G KCNK3 potassium two pore domain channel subfamily K member 3 IAGP ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr 2:26,692,722...26,733,420
Ensembl chr 2:26,692,722...26,733,420 		JBrowse link
G KHK ketohexokinase IAGP ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr 2:27,086,772...27,100,762
Ensembl chr 2:27,086,772...27,100,762 		JBrowse link
G KIF3C kinesin family member 3C IAGP ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr 2:25,926,598...25,982,497
Ensembl chr 2:25,926,598...25,982,749 		JBrowse link
G KRTCAP3 keratinocyte associated protein 3 IAGP ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr 2:27,442,381...27,446,481
Ensembl chr 2:27,442,366...27,446,481 		JBrowse link
G LOC122756673 Sharpr-MPRA regulatory region 14395 IAGP ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr 2:25,295,080...25,295,775 JBrowse link
G LOC129933287 ATAC-STARR-seq lymphoblastoid silent region 11248 IAGP ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532
G LOC129933288 ATAC-STARR-seq lymphoblastoid silent region 11249 IAGP ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:25741868 PMID:28492532 PMID:30478443
G LOC129933289 ATAC-STARR-seq lymphoblastoid silent region 11250 IAGP ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532
G LOC129933290 ATAC-STARR-seq lymphoblastoid active region 15445 IAGP ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:24614070 PMID:25741868 PMID:28492532 PMID:30478443
G LOC129933291 ATAC-STARR-seq lymphoblastoid silent region 11252 IAGP ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532
G LOC129933292 ATAC-STARR-seq lymphoblastoid active region 15446 IAGP ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532
G LOC129933293 ATAC-STARR-seq lymphoblastoid silent region 11253 IAGP ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532
G LOC129933294 ATAC-STARR-seq lymphoblastoid silent region 11254 IAGP ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532
G LOC129933295 ATAC-STARR-seq lymphoblastoid silent region 11255 IAGP ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532
G LOC129933296 ATAC-STARR-seq lymphoblastoid silent region 11256 IAGP ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532
G LOC129933297 ATAC-STARR-seq lymphoblastoid silent region 11257 IAGP ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532
G LOC129933298 ATAC-STARR-seq lymphoblastoid active region 15447 IAGP ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532
G MAPRE3 microtubule associated protein RP/EB family member 3 IAGP ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr 2:26,970,637...27,027,219
Ensembl chr 2:26,970,637...27,027,219 		JBrowse link
G MIR1301 microRNA 1301 IAGP ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr 2:25,328,640...25,328,721
Ensembl chr 2:25,328,640...25,328,721 		JBrowse link
G MPV17 mitochondrial inner membrane protein MPV17 IAGP ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr 2:27,309,492...27,323,097
Ensembl chr 2:27,309,492...27,325,680 		JBrowse link
G MRPL33 mitochondrial ribosomal protein L33 IAGP ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr 2:27,771,719...27,779,733
Ensembl chr 2:27,771,717...27,988,087 		JBrowse link
G NCOA1 nuclear receptor coactivator 1 IAGP ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:24614070 PMID:26866722 PMID:28492532 PMID:29900417 NCBI chr 2:24,491,254...24,770,702
Ensembl chr 2:24,491,254...24,770,702 		JBrowse link
G NRBP1 nuclear receptor binding protein 1 IAGP ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr 2:27,427,790...27,442,259
Ensembl chr 2:27,427,790...27,442,259 		JBrowse link
G OST4 oligosaccharyltransferase complex subunit 4, non-catalytic IAGP ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr 2:27,070,472...27,071,654
Ensembl chr 2:27,070,472...27,071,654 		JBrowse link
G OTOF otoferlin IAGP ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr 2:26,457,203...26,558,756
Ensembl chr 2:26,457,203...26,558,756 		JBrowse link
G PLB1 phospholipase B1 IAGP ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr 2:28,496,060...28,644,142
Ensembl chr 2:28,457,145...28,644,142 		JBrowse link
G POMC proopiomelanocortin IAGP ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:24614070 PMID:26866722 PMID:28492532 PMID:29900417 PMID:32435502 NCBI chr 2:25,160,860...25,168,580
Ensembl chr 2:25,160,853...25,168,903 		JBrowse link
G PPM1G protein phosphatase, Mg2+/Mn2+ dependent 1G IAGP ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr 2:27,381,199...27,409,591
Ensembl chr 2:27,381,195...27,409,591 		JBrowse link
G PPP1CB protein phosphatase 1 catalytic subunit beta IAGP ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr 2:28,751,604...28,802,940
Ensembl chr 2:28,751,640...28,802,940 		JBrowse link
G PREB prolactin regulatory element binding IAGP ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr 2:27,130,756...27,134,636
Ensembl chr 2:27,130,756...27,134,666 		JBrowse link
G PRR30 proline rich 30 IAGP ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr 2:27,136,848...27,139,410
Ensembl chr 2:27,136,848...27,139,410 		JBrowse link
G PTRHD1 peptidyl-tRNA hydrolase domain containing 1 IAGP ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:24614070 PMID:26866722 PMID:28492532 PMID:29900417 NCBI chr 2:24,789,728...24,793,391
Ensembl chr 2:24,789,728...24,793,391 		JBrowse link
G RAB10 RAB10, member RAS oncogene family IAGP ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr 2:26,033,285...26,137,454
Ensembl chr 2:26,034,084...26,137,454 		JBrowse link
G RBKS ribokinase IAGP ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr 2:27,781,379...27,890,387
Ensembl chr 2:27,781,379...27,890,681 		JBrowse link
G SELENOI selenoprotein I IAGP ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr 2:26,346,143...26,395,885
Ensembl chr 2:26,308,547...26,395,885 		JBrowse link
G SLC30A3 solute carrier family 30 member 3 IAGP ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr 2:27,253,684...27,275,817
Ensembl chr 2:27,253,684...27,275,817 		JBrowse link
G SLC35F6 solute carrier family 35 member F6 IAGP ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr 2:26,764,284...26,781,231
Ensembl chr 2:26,764,284...26,781,231 		JBrowse link
G SLC4A1AP solute carrier family 4 member 1 adaptor protein IAGP ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr 2:27,663,889...27,694,969
Ensembl chr 2:27,663,426...27,695,366 		JBrowse link
G SLC5A6 solute carrier family 5 member 6 IAGP ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr 2:27,199,587...27,212,787
Ensembl chr 2:27,199,587...27,212,958 		JBrowse link
G SNX17 sorting nexin 17 IAGP ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr 2:27,370,616...27,377,535
Ensembl chr 2:27,370,496...27,377,535 		JBrowse link
G SPATA31H1 SPATA31 subfamily H member 1 IAGP ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr 2:27,537,386...27,582,722
Ensembl chr 2:27,537,386...27,582,722 		JBrowse link
G SUPT7L SPT7 like, STAGA complex subunit gamma IAGP ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr 2:27,642,568...27,663,614
Ensembl chr 2:27,650,809...27,663,840 		JBrowse link
G TCF23 transcription factor 23 IAGP ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr 2:27,149,004...27,156,974
Ensembl chr 2:27,149,004...27,156,974 		JBrowse link
G TMEM214 transmembrane protein 214 IAGP ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr 2:27,032,965...27,041,694
Ensembl chr 2:27,032,910...27,041,694 		JBrowse link
G TRIM54 tripartite motif containing 54 IAGP ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr 2:27,282,429...27,307,435
Ensembl chr 2:27,282,429...27,307,439 		JBrowse link
G UCN urocortin IAGP ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr 2:27,307,400...27,308,445
Ensembl chr 2:27,307,400...27,308,445 		JBrowse link
G ZNF512 zinc finger protein 512 IAGP ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr 2:27,583,042...27,623,217
Ensembl chr 2:27,582,969...27,623,217 		JBrowse link
G ZNF513 zinc finger protein 513 IAGP ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr 2:27,377,235...27,380,734
Ensembl chr 2:27,377,235...27,380,790 		JBrowse link
Tenorio Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC121852963 NANOG-H3K27ac hESC enhancer GRCh37_chr18:29598110-29598982 IAGP ClinVar Annotator: match by term: Tenorio syndrome
ClinVar Annotator: match by term: RNF125-related condition | ClinVar Annotator: match by term: Tenorio syndrome		 ClinVar PMID:25741868 PMID:28492532 NCBI chr18:32,018,147...32,019,019 JBrowse link
G RNF125 ring finger protein 125 IAGP
EXP		 ClinVar Annotator: match by term: Tenorio syndrome
ClinVar Annotator: match by term: RNF125-related condition | ClinVar Annotator: match by term: Tenorio syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:25196541 PMID:25741868 PMID:28492532 PMID:34196401 NCBI chr18:32,018,825...32,088,144
Ensembl chr18:32,018,825...32,073,219 		JBrowse link
THAUVIN-ROBINET-FAIVRE SYNDROME term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FIBP FGF1 intracellular binding protein IAGP
EXP		 ClinVar Annotator: match by term: Thauvin-Robinet-Faivre syndrome
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:25741868 PMID:26660953 PMID:27183861 NCBI chr11:65,883,740...65,888,471
Ensembl chr11:65,883,740...65,888,531 		JBrowse link
thyroid dyshormonogenesis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLC5A5 solute carrier family 5 member 5 IAGP
EXP		 ClinVar Annotator: match by term: HYPOTHYROIDISM, CONGENITAL, DUE TO DYSHORMONOGENESIS, 1 | ClinVar Annotator: match by term: SLC5A5-related condition | ClinVar Annotator: match by term: THYROID HORMONOGENESIS, GENETIC DEFECT IN, 1
ClinVar Annotator: match by term: IODINE ACCUMULATION, TRANSPORT, OR TRAPPING DEFECT | ClinVar Annotator: match by term: THYROID HORMONOGENESIS, GENETIC DEFECT IN, 1
ClinVar Annotator: match by term: HYPOTHYROIDISM, CONGENITAL, DUE TO DYSHORMONOGENESIS, 1 | ClinVar Annotator: match by term: THYROID HORMONOGENESIS, GENETIC DEFECT IN, 1
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:3998954 PMID:9171822 PMID:9388506 PMID:9398697 PMID:9486973 More... NCBI chr19:17,871,945...17,895,174
Ensembl chr19:17,871,945...17,895,174 		JBrowse link
thyroid dyshormonogenesis 2A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC126806104 CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:1544276-1545475 IAGP ClinVar Annotator: match by term: Thyroid dyshormonogenesis 2A
ClinVar Annotator: match by term: THYROID PEROXIDASE DEFICIENCY | ClinVar Annotator: match by term: Thyroid dyshormonogenesis 2A		 ClinVar PMID:11061528 PMID:15055360 PMID:19243353 PMID:23236987 PMID:25564141 More... NCBI chr 2:1,540,504...1,541,703 JBrowse link
G TPO thyroid peroxidase IAGP
EXP		 ClinVar Annotator: match by term: Thyroid dyshormonogenesis 2A
ClinVar Annotator: match by term: THYROID PEROXIDASE DEFICIENCY | ClinVar Annotator: match by term: Thyroid dyshormonogenesis 2A
ClinVar Annotator: match by term: HYPOTHYROIDISM, CONGENITAL, DUE TO DYSHORMONOGENESIS, 2A | ClinVar Annotator: match by term: THYROID PEROXIDASE DEFICIENCY | ClinVar Annotator: match by term: Thyroid dyshormonogenesis 2A
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:1401057 PMID:7550241 PMID:8027236 PMID:8964831 PMID:9024270 More... NCBI chr 2:1,374,047...1,543,673
Ensembl chr 2:1,374,066...1,543,711 		JBrowse link
thyroid dyshormonogenesis 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLA Src like adaptor IAGP ClinVar Annotator: match by term: THYROID HORMONOGENESIS, GENETIC DEFECT IN, 3
ClinVar Annotator: match by term: TG-related condition | ClinVar Annotator: match by term: THYROID HORMONOGENESIS, GENETIC DEFECT IN, 3		 ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:133,036,728...133,102,602
Ensembl chr 8:133,036,728...133,102,912 		JBrowse link
G TG thyroglobulin IAGP
EXP		 ClinVar Annotator: match by term: THYROID HORMONOGENESIS, GENETIC DEFECT IN, 3
ClinVar Annotator: match by term: HYPOTHYROIDISM, CONGENITAL, DUE TO DYSHORMONOGENESIS, 3 | ClinVar Annotator: match by term: TG-related condition | ClinVar Annotator: match by term: THYROID HORMONOGENESIS, GENETIC DEFECT IN, 3
CTD Direct Evidence: marker/mechanism		 ClinVar
OMIM
CTD		 PMID:1752952 PMID:2584351 PMID:7593451 PMID:8094490 PMID:8325944 More... NCBI chr 8:132,866,958...133,134,899
Ensembl chr 8:132,866,958...133,134,903 		JBrowse link
thyroid dyshormonogenesis 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IYD iodotyrosine deiodinase IAGP
EXP		 ClinVar Annotator: match by term: DEIODINASE DEFICIENCY
ClinVar Annotator: match by term: Thyroid dyshormonogenesis 4
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:13183981 PMID:13333116 PMID:18434651 PMID:18765512 PMID:25741868 More... NCBI chr 6:150,369,012...150,405,969
Ensembl chr 6:150,368,892...150,405,969 		JBrowse link
thyroid dyshormonogenesis 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DUOXA2 dual oxidase maturation factor 2 IAGP
EXP		 ClinVar Annotator: match by term: Thyroid dyshormonogenesis 5
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:18042646 PMID:23292166 PMID:25675383 PMID:25741868 PMID:28492532 More... NCBI chr15:45,114,326...45,118,421
Ensembl chr15:45,114,326...45,118,421 		JBrowse link
thyroid dyshormonogenesis 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DUOX2 dual oxidase 2 IAGP
EXP		 ClinVar Annotator: match by term: DUOX2-related condition | ClinVar Annotator: match by term: Thyroid dyshormonogenesis 6
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:12110737 PMID:16134168 PMID:16199547 PMID:16322276 More... NCBI chr15:45,092,650...45,114,172
Ensembl chr15:45,092,650...45,114,172 		JBrowse link
Weaver syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C7orf33 chromosome 7 open reading frame 33 IAGP ClinVar Annotator: match by term: Weaver syndrome ClinVar PMID:28492532 NCBI chr 7:148,590,766...148,615,860
Ensembl chr 7:148,590,766...148,615,860 		JBrowse link
G CNTNAP2 contactin associated protein 2 IAGP ClinVar Annotator: match by term: Weaver syndrome ClinVar PMID:28492532 NCBI chr 7:146,116,801...148,420,998
Ensembl chr 7:146,116,002...148,420,998 		JBrowse link
G CUL1 cullin 1 IAGP ClinVar Annotator: match by term: Weaver syndrome ClinVar PMID:28492532 NCBI chr 7:148,697,756...148,801,110
Ensembl chr 7:148,697,914...148,801,110 		JBrowse link
G EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit IAGP
ISS
EXP		 ClinVar Annotator: match by term: Weaver syndrome
OMIM:277590
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM		 PMID:4366187 PMID:9536098 PMID:17576681 PMID:18414213 PMID:22177091 More... NCBI chr 7:148,807,383...148,884,291
Ensembl chr 7:148,807,257...148,884,321 		JBrowse link
G LOC129999534 ATAC-STARR-seq lymphoblastoid silent region 18737 IAGP ClinVar Annotator: match by term: Weaver syndrome ClinVar
G NSD1 nuclear receptor binding SET domain protein 1 IAGP
EXP		 ClinVar Annotator: match by term: Weaver syndrome
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD		 PMID:12807965 PMID:18414213 PMID:25741868 PMID:28492532 NCBI chr 5:177,131,798...177,300,213
Ensembl chr 5:177,131,830...177,300,213 		JBrowse link
G SUZ12 SUZ12 polycomb repressive complex 2 subunit IAGP ClinVar Annotator: match by term: Weaver syndrome ClinVar PMID:25741868 PMID:30019515 NCBI chr17:31,937,007...32,001,038
Ensembl chr17:31,937,007...32,001,038 		JBrowse link
X-Linked Mental Retardation with Isolated Growth Hormone Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SOX3 SRY-box transcription factor 3 IAGP DNA:duplication:cds:c.712_744dup (human) RGD PMID:12428212 RGD:11535974 NCBI chr  X:140,502,985...140,505,069
Ensembl chr  X:140,502,985...140,505,069 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 41189
    disease of anatomical entity 32344
      endocrine system disease 7702
        Endocrine Bone Diseases 404
          Gigantism + 91
          acromegaly + 3
          congenital hypothyroidism + 256
          isolated growth hormone deficiency + 59
          osteitis fibrosa 0
Path 2
Term Annotations click to browse term
  disease 41189
    disease of anatomical entity 32344
      musculoskeletal system disease 11641
        connective tissue disease 7446
          bone disease 5601
            Endocrine Bone Diseases 404
              Gigantism + 91
              acromegaly + 3
              congenital hypothyroidism + 256
              isolated growth hormone deficiency + 59
              osteitis fibrosa 0
paths to the root