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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:Growth Disorders
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Accession:DOID:9006257 term browser browse the term
Definition:Deviations from the average values for a specific age and sex in any or all of the following: height, weight, skeletal proportions, osseous development, or maturation of features. Included here are both acceleration and retardation of growth.
Synonyms:exact_synonym: Growth Disorder;   Stunted Growth;   Stunting
 narrow_synonym: growth retardation;   retardation of growth
 primary_id: MESH:D006130

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Growth Disorders term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc8 ATP binding cassette subfamily C member 8 ISO ClinVar Annotator: match by term: Growth Retardation ClinVar PMID:16613899 PMID:16885549 PMID:18025408 PMID:18981553 PMID:21989597 More... NCBI chrNW_004955414:32,216,243...32,289,028
Ensembl chrNW_004955414:32,216,196...32,289,053 		JBrowse link
G Ache acetylcholinesterase (Cartwright blood group) ISO CTD Direct Evidence: marker/mechanism CTD PMID:22898132 NCBI chrNW_004955573:79,606...85,799
Ensembl chrNW_004955573:80,298...85,799 		JBrowse link
G Adamtsl2 ADAMTS like 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18677313 NCBI chrNW_004955513:2,849,310...2,879,130
Ensembl chrNW_004955513:2,849,271...2,879,848 		JBrowse link
G Aff4 ALF transcription elongation factor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25730767 NCBI chrNW_004955408:4,247,730...4,305,194
Ensembl chrNW_004955408:4,248,563...4,305,194 		JBrowse link
G Ahr aryl hydrocarbon receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:20961953 NCBI chrNW_004955410:20,428,531...20,459,482
Ensembl chrNW_004955410:20,428,546...20,456,836 		JBrowse link
G Atp7a ATPase copper transporting alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:23064757 NCBI chrNW_004955557:1,355,471...1,515,725
Ensembl chrNW_004955557:1,355,397...1,515,393 		JBrowse link
G Atrx ATRX chromatin remodeler ISO CTD Direct Evidence: marker/mechanism CTD PMID:19291773 NCBI chrNW_004955557:947,368...1,252,701
Ensembl chrNW_004955557:947,167...1,252,724 		JBrowse link
G Avpr2 arginine vasopressin receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19703807 NCBI chrNW_004955580:583,827...586,739
Ensembl chrNW_004955580:583,480...586,456 		JBrowse link
G Bub1b BUB1 mitotic checkpoint serine/threonine kinase B ISO CTD Direct Evidence: marker/mechanism CTD PMID:15475955 NCBI chrNW_004955416:7,105,302...7,159,121
Ensembl chrNW_004955416:7,105,261...7,160,012 		JBrowse link
G Cbl Cbl proto-oncogene ISO CTD Direct Evidence: marker/mechanism CTD PMID:20694012 NCBI chrNW_004955412:20,307,011...20,388,539
Ensembl chrNW_004955412:20,307,011...20,388,539 		JBrowse link
G Chd2 chromodomain helicase DNA binding protein 2 ISO ClinVar Annotator: match by term: Growth Retardation ClinVar NCBI chrNW_004955416:21,085,570...21,210,321
Ensembl chrNW_004955416:21,085,570...21,210,321 		JBrowse link
G Cntn4 contactin 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15106122 NCBI chrNW_004955421:10,267,471...10,928,734
Ensembl chrNW_004955421:10,266,640...10,723,228 		JBrowse link
G Dnmt3a DNA methyltransferase 3 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:24614070 PMID:30478443 NCBI chrNW_004955469:7,264,431...7,367,059
Ensembl chrNW_004955469:7,269,952...7,367,059 		JBrowse link
G Ercc6 ERCC excision repair 6, chromatin remodeling factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:18628313 NCBI chrNW_004955556:745,175...812,215
Ensembl chrNW_004955556:748,231...813,133 		JBrowse link
G Fgd1 FYVE, RhoGEF and PH domain containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:7954831 PMID:10930571 PMID:11093277 PMID:11940089 NCBI chrNW_004955475:1,703,374...1,752,710
Ensembl chrNW_004955475:1,703,374...1,752,710 		JBrowse link
G Fgfr3 fibroblast growth factor receptor 3 ISO ClinVar Annotator: match by term: Growth Retardation ClinVar PMID:1908846 PMID:7773297 PMID:8640234 PMID:8858131 PMID:9438390 More... NCBI chrNW_004955514:1,030,244...1,038,590
Ensembl chrNW_004955514:1,025,600...1,038,590 		JBrowse link
G Gli2 GLI family zinc finger 2 ISO ClinVar Annotator: match by term: Growth Retardation ClinVar NCBI chrNW_004955459:8,892,917...9,124,672
Ensembl chrNW_004955459:8,892,869...9,118,499 		JBrowse link
G Gnb1 G protein subunit beta 1 ISO ClinVar Annotator: match by term: Growth Retardation ClinVar PMID:9596582 PMID:24033266 PMID:25485910 PMID:25741868 PMID:25741901 More... NCBI chrNW_004955486:9,165,850...9,192,306
Ensembl chrNW_004955486:9,165,850...9,193,066 		JBrowse link
G Hmox1 heme oxygenase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9884342 NCBI chrNW_004955405:43,124,447...43,128,873
Ensembl chrNW_004955405:43,124,510...43,130,979 		JBrowse link
G Idh2 isocitrate dehydrogenase (NADP(+)) 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27469509 NCBI chrNW_004955416:15,197,611...15,212,919
Ensembl chrNW_004955416:15,197,366...15,223,363 		JBrowse link
G Igf1 insulin like growth factor 1 ISO IGF1 deficiency, OMIM:608747;DNA:deletion RGD PMID:8857020 RGD:1624297 NCBI chrNW_004955405:37,505,830...37,582,152
Ensembl chrNW_004955405:37,512,201...37,582,152 		JBrowse link
G Igf1r insulin like growth factor 1 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:14657428 NCBI chrNW_004955416:26,101,090...26,382,660
Ensembl chrNW_004955416:26,102,628...26,382,666 		JBrowse link
G Igf2 insulin like growth factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9349812 NCBI chrNW_004955422:13,880,525...13,907,963
Ensembl chrNW_004955422:13,880,471...13,888,566 		JBrowse link
G Igfals insulin like growth factor binding protein acid labile subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:14762184 PMID:17726072 NCBI chrNW_004955442:15,469,602...15,482,115
Ensembl chrNW_004955442:15,478,202...15,482,115 		JBrowse link
G Intu inturned planar cell polarity protein ISO ClinVar Annotator: match by term: Growth Retardation ClinVar PMID:25741868 PMID:27158779 PMID:28492532 NCBI chrNW_004955428:13,670,756...13,743,030
Ensembl chrNW_004955428:13,668,774...13,743,090 		JBrowse link
G Jak2 Janus kinase 2 ISO associated with Renal Insufficiency, Chronic;protein:decreased expression:epiphyseal plate RGD PMID:23715123 RGD:10403065 NCBI chrNW_004955434:9,227,897...9,341,208
Ensembl chrNW_004955434:9,227,595...9,341,208 		JBrowse link
G Kcnma1 potassium calcium-activated channel subfamily M alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28242822 NCBI chrNW_004955437:14,749,808...15,457,274
Ensembl chrNW_004955437:14,749,914...15,454,028 		JBrowse link
G Lemd2 LEM domain nuclear envelope protein 2 ISO ClinVar Annotator: match by term: Growth Retardation ClinVar PMID:25741868 PMID:30905398 NCBI chrNW_004955437:2,163,977...2,178,783
Ensembl chrNW_004955437:2,163,878...2,176,665 		JBrowse link
G LOC102010322 cytochrome P450 1A2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20961953 NCBI chrNW_004955450:3,165,107...3,171,894
Ensembl chrNW_004955450:3,165,106...3,171,942 		JBrowse link
G Lpar1 lysophosphatidic acid receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11087877 NCBI chrNW_004955419:16,190,109...16,324,702
Ensembl chrNW_004955419:16,191,244...16,325,602 		JBrowse link
G Ltbp3 latent transforming growth factor beta binding protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19344874 PMID:25899461 NCBI chrNW_004955422:19,714,161...19,730,344
Ensembl chrNW_004955422:19,714,627...19,729,855 		JBrowse link
G Mcoln1 mucolipin TRP cation channel 1 ISO ClinVar Annotator: match by term: Growth Retardation ClinVar PMID:11030752 PMID:11317355 PMID:16199547 PMID:28492532 PMID:31623504 NCBI chrNW_004955563:1,703,408...1,712,908
Ensembl chrNW_004955563:1,703,416...1,745,996 		JBrowse link
G Nppc natriuretic peptide C ISO CTD Direct Evidence: marker/mechanism CTD PMID:17676597 NCBI chrNW_004955453:3,884,580...3,888,494
Ensembl chrNW_004955453:3,884,560...3,888,850 		JBrowse link
G Nup214 nucleoporin 214 ISO ClinVar Annotator: match by term: Growth Retardation ClinVar NCBI chrNW_004955513:955,639...1,038,912 JBrowse link
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:22729222 NCBI chrNW_004955420:8,355,415...8,427,024
Ensembl chrNW_004955420:8,356,353...8,427,024 		JBrowse link
G Pqbp1 polyglutamine binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14634649 PMID:16740914 NCBI chrNW_004955543:430,324...434,205
Ensembl chrNW_004955543:430,853...434,205 		JBrowse link
G Pthlh parathyroid hormone like hormone ISO CTD Direct Evidence: marker/mechanism CTD PMID:20170896 NCBI chrNW_004955505:6,834,533...6,846,909
Ensembl chrNW_004955505:6,834,533...6,847,335 		JBrowse link
G Rai1 retinoic acid induced 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18285828 NCBI chrNW_004955577:185,404...296,613
Ensembl chrNW_004955577:183,051...200,139 		JBrowse link
G Rnf135 ring finger protein 135 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17632510 NCBI chrNW_004955481:7,111,760...7,122,800 JBrowse link
G Secisbp2 SECIS binding protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19602558 NCBI chrNW_004955515:2,697,370...2,729,425
Ensembl chrNW_004955515:2,698,075...2,730,074 		JBrowse link
G Sh3pxd2b SH3 and PX domains 2B ISO CTD Direct Evidence: marker/mechanism CTD PMID:19669234 NCBI chrNW_004955408:25,103,278...25,169,934
Ensembl chrNW_004955408:25,103,278...25,170,003 		JBrowse link
G Tbx15 T-box transcription factor 15 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19068278 NCBI chrNW_004955435:21,874,154...21,993,510
Ensembl chrNW_004955435:21,872,201...21,993,772 		JBrowse link
3p deletion syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ankrd28 ankyrin repeat domain 28 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004955430:8,014,631...8,197,434
Ensembl chrNW_004955430:8,014,583...8,197,434 		JBrowse link
G Btd biotinidase ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004955430:7,960,036...7,988,754
Ensembl chrNW_004955430:7,960,039...7,988,754 		JBrowse link
G Capn7 calpain 7 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004955430:2,269,274...2,307,801
Ensembl chrNW_004955430:2,269,274...2,308,713 		JBrowse link
G Ccdc174 coiled-coil domain containing 174 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004955429:17,201,563...17,218,726
Ensembl chrNW_004955429:17,201,027...17,218,726 		JBrowse link
G Chchd4 coiled-coil-helix-coiled-coil-helix domain containing 4 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004955429:16,911,392...16,921,353
Ensembl chrNW_004955429:16,912,208...16,921,157 		JBrowse link
G Colq collagen like tail subunit of asymmetric acetylcholinesterase ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004955430:1,956,833...2,019,581
Ensembl chrNW_004955430:1,956,375...2,019,598 		JBrowse link
G CUNH3orf20 chromosome unknown C3orf20 homolog ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004955429:17,222,834...17,271,320
Ensembl chrNW_004955429:17,231,820...17,272,343 		JBrowse link
G Dazl deleted in azoospermia like ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004955430:8,869,419...8,880,782
Ensembl chrNW_004955430:8,869,352...8,880,789 		JBrowse link
G Dph3 diphthamide biosynthesis 3 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004955430:8,544,314...8,550,276
Ensembl chrNW_004955430:8,544,314...8,550,276 		JBrowse link
G Eaf1 ELL associated factor 1 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004955430:1,933,290...1,946,900
Ensembl chrNW_004955430:1,933,290...1,947,932 		JBrowse link
G Efhb EF-hand domain family member B ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004955430:11,932,753...11,986,985
Ensembl chrNW_004955430:11,932,296...11,987,845 		JBrowse link
G Fbln2 fibulin 2 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004955429:12,791,926...12,880,544
Ensembl chrNW_004955429:12,788,468...12,880,543 		JBrowse link
G Fgd5 FYVE, RhoGEF and PH domain containing 5 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004955429:17,297,123...17,367,365
Ensembl chrNW_004955429:17,304,992...17,366,051 		JBrowse link
G Galnt15 polypeptide N-acetylgalactosaminyltransferase 15 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004955430:8,463,773...8,510,583
Ensembl chrNW_004955430:8,464,496...8,510,642 		JBrowse link
G Grip2 glutamate receptor interacting protein 2 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004955429:17,132,520...17,177,547
Ensembl chrNW_004955429:17,134,158...17,160,036 		JBrowse link
G Hacl1 2-hydroxyacyl-CoA lyase 1 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004955430:2,055,774...2,096,260
Ensembl chrNW_004955430:2,053,640...2,096,432 		JBrowse link
G Hdac11 histone deacetylase 11 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004955429:12,890,939...12,907,749
Ensembl chrNW_004955429:12,890,879...12,907,749 		JBrowse link
G Kat2b lysine acetyltransferase 2B ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004955430:12,109,493...12,196,102
Ensembl chrNW_004955430:12,128,069...12,198,117 		JBrowse link
G Kcnh8 potassium voltage-gated channel subfamily H member 8 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004955430:11,298,850...11,654,835
Ensembl chrNW_004955430:11,298,850...11,654,835 		JBrowse link
G Lsm3 LSM3 homolog, U6 small nuclear RNA and mRNA degradation associated ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004955429:16,968,490...16,977,517
Ensembl chrNW_004955429:16,968,490...16,977,517 		JBrowse link
G Mettl6 methyltransferase 6, tRNA N3-cytidine ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004955430:1,910,557...1,933,249
Ensembl chrNW_004955430:1,909,404...1,933,239 		JBrowse link
G Mrps25 mitochondrial ribosomal protein S25 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004955429:17,424,570...17,436,247
Ensembl chrNW_004955429:17,432,443...17,436,247 		JBrowse link
G Nr2c2 nuclear receptor subfamily 2 group C member 2 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004955429:17,386,190...17,430,820
Ensembl chrNW_004955429:17,386,190...17,430,820 		JBrowse link
G Nup210 nucleoporin 210 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004955429:12,907,943...13,041,819
Ensembl chrNW_004955429:12,961,665...13,043,214 		JBrowse link
G Oxnad1 oxidoreductase NAD binding domain containing 1 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004955430:8,550,370...8,586,863
Ensembl chrNW_004955430:8,550,372...8,586,863 		JBrowse link
G Plcl2 phospholipase C like 2 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004955430:9,157,074...9,347,366
Ensembl chrNW_004955430:9,157,074...9,348,563 		JBrowse link
G Pp2d1 protein phosphatase 2C like domain containing 1 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004955430:12,039,391...12,070,440
Ensembl chrNW_004955430:12,040,197...12,069,254 		JBrowse link
G Rab5a RAB5A, member RAS oncogene family ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004955430:11,991,548...12,040,003 JBrowse link
G Rbsn rabenosyn, RAB effector ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004955429:17,444,031...17,468,024
Ensembl chrNW_004955429:17,444,622...17,468,050 		JBrowse link
G Rftn1 raftlin, lipid raft linker 1 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004955430:8,605,057...8,801,187
Ensembl chrNW_004955430:8,603,401...8,779,896 		JBrowse link
G Satb1 SATB homeobox 1 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004955430:10,587,539...10,683,887
Ensembl chrNW_004955430:10,587,539...10,683,887 		JBrowse link
G Setd5 SET domain containing 5 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:21681106 NCBI chrNW_004955561:968,814...1,091,687
Ensembl chrNW_004955561:968,814...1,042,691 		JBrowse link
G Sh3bp5 SH3 domain binding protein 5 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004955430:2,251,544...2,266,166
Ensembl chrNW_004955430:2,196,967...2,264,953 		JBrowse link
G Slc6a6 solute carrier family 6 member 6 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004955429:17,097,753...17,130,079
Ensembl chrNW_004955429:17,098,268...17,130,433 		JBrowse link
G Tbc1d5 TBC1 domain family member 5 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004955430:9,411,865...9,966,710
Ensembl chrNW_004955430:9,410,475...9,940,460 		JBrowse link
G Thumpd3 THUMP domain containing 3 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:21681106 NCBI chrNW_004955561:933,168...956,457
Ensembl chrNW_004955561:933,173...956,457 		JBrowse link
G Tmem43 transmembrane protein 43 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004955429:16,921,469...16,934,978
Ensembl chrNW_004955429:16,921,469...16,934,978 		JBrowse link
G Wnt7a Wnt family member 7A ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004955429:12,647,993...12,693,998
Ensembl chrNW_004955429:12,647,993...12,694,895 		JBrowse link
G Xpc XPC complex subunit, DNA damage recognition and repair factor ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004955429:16,935,901...16,968,285
Ensembl chrNW_004955429:16,935,901...16,955,845 		JBrowse link
Acid-Labile Subunit Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Igfals insulin like growth factor binding protein acid labile subunit ISO ClinVar Annotator: match by term: Short stature due to primary acid-labile subunit deficiency OMIM
ClinVar		 PMID:14762184 PMID:17726072 PMID:18303074 PMID:20591980 PMID:22678306 More... NCBI chrNW_004955442:15,469,602...15,482,115
Ensembl chrNW_004955442:15,478,202...15,482,115 		JBrowse link
acrocapitofemoral dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ihh Indian hedgehog signaling molecule ISO ClinVar Annotator: match by term: Acrocapitofemoral dysplasia OMIM
ClinVar		 PMID:12624140 PMID:12632327 PMID:25741868 PMID:28492532 PMID:34530144 NCBI chrNW_004955453:14,376,665...14,382,536
Ensembl chrNW_004955453:14,376,718...14,381,747 		JBrowse link
Al Kaissi Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdk10 cyclin dependent kinase 10 ISO ClinVar Annotator: match by term: Al Kaissi syndrome OMIM
ClinVar		 PMID:25741868 PMID:26539891 PMID:28886341 PMID:29130579 NCBI chrNW_004955541:3,235,441...3,242,377
Ensembl chrNW_004955541:3,235,448...3,242,377 		JBrowse link
Ayme-Gripp syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Maf MAF bZIP transcription factor ISO ClinVar Annotator: match by term: Ayme-Gripp syndrome | ClinVar Annotator: match by term: Ayme-gripp syndrome OMIM
ClinVar		 PMID:8834052 PMID:8867660 PMID:12072800 PMID:17935251 PMID:25064449 More... NCBI chrNW_004955522:2,514,313...2,519,694 JBrowse link
Bainbridge-Ropers syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Asxl3 ASXL transcriptional regulator 3 ISO ClinVar Annotator: match by term: Bainbridge-Ropers syndrome OMIM
ClinVar		 PMID:23383720 PMID:25326635 PMID:25590979 PMID:25741868 PMID:25741905 More... NCBI chrNW_004955402:20,571,209...20,704,480
Ensembl chrNW_004955402:20,605,804...20,702,054 		JBrowse link
Bloom syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aagab alpha and gamma adaptin binding protein ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:8,694,829...8,742,816
Ensembl chrNW_004955450:8,694,892...8,741,701 		JBrowse link
G Abhd17c abhydrolase domain containing 17C, depalmitoylase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:11,495,651...11,543,276
Ensembl chrNW_004955416:11,495,651...11,543,405 		JBrowse link
G Abhd2 abhydrolase domain containing 2, acylglycerol lipase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:15,878,972...15,983,322
Ensembl chrNW_004955416:15,884,624...15,983,322 		JBrowse link
G Acan aggrecan ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:16,125,536...16,186,046 JBrowse link
G Acsbg1 acyl-CoA synthetase bubblegum family member 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:703,874...744,782
Ensembl chrNW_004955450:701,517...745,126 		JBrowse link
G Actc1 actin alpha cardiac muscle 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:2,139,541...2,144,678
Ensembl chrNW_004955416:2,137,101...2,145,416 		JBrowse link
G Adal adenosine deaminase like ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:9,892,422...9,913,877
Ensembl chrNW_004955416:9,898,339...9,913,427 		JBrowse link
G Adam10 ADAM metallopeptidase domain 10 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:15,853,372...15,927,966
Ensembl chrNW_004955450:15,853,366...15,928,200 		JBrowse link
G Adamts7 ADAM metallopeptidase with thrombospondin type 1 motif 7 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:525,313...581,006
Ensembl chrNW_004955450:529,999...577,621 		JBrowse link
G Adamtsl3 ADAMTS like 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:12,818,153...13,132,960
Ensembl chrNW_004955416:12,820,138...13,131,826 		JBrowse link
G Adpgk ADP dependent glucokinase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:4,593,295...4,625,091
Ensembl chrNW_004955450:4,593,295...4,627,727 		JBrowse link
G Aen apoptosis enhancing nuclease ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:16,328,655...16,338,069
Ensembl chrNW_004955416:16,331,290...16,338,078 		JBrowse link
G Afg2b AFG2 AAA ATPase homolog B ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955409:8,031,094...8,049,477 JBrowse link
G Agbl1 AGBL carboxypeptidase 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:17,885,757...18,686,124
Ensembl chrNW_004955416:18,130,605...18,686,108 		JBrowse link
G Akap13 A-kinase anchoring protein 13 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:19,006,206...19,327,523
Ensembl chrNW_004955416:19,009,485...19,247,626 		JBrowse link
G Aldh1a2 aldehyde dehydrogenase 1 family member A2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:16,406,578...16,453,048
Ensembl chrNW_004955450:16,406,436...16,453,180 		JBrowse link
G Alpk3 alpha kinase 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:14,279,831...14,322,836
Ensembl chrNW_004955416:14,277,866...14,322,838 		JBrowse link
G Ankdd1a ankyrin repeat and death domain containing 1A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:10,630,303...10,651,918
Ensembl chrNW_004955450:10,630,868...10,648,940 		JBrowse link
G Ankrd34c ankyrin repeat domain 34C ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955533:311,863...320,185 JBrowse link
G Ankrd63 ankyrin repeat domain 63 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:7,212,413...7,216,526
Ensembl chrNW_004955416:7,212,413...7,216,526 		JBrowse link
G Anp32a acidic nuclear phosphoprotein 32 family member A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:7,449,368...7,484,524 JBrowse link
G Anpep alanyl aminopeptidase, membrane ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:15,415,981...15,442,032
Ensembl chrNW_004955416:15,424,932...15,444,075 		JBrowse link
G Anxa2 annexin A2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:14,545,586...14,574,161
Ensembl chrNW_004955450:14,512,381...14,574,696 		JBrowse link
G Ap3b2 adaptor related protein complex 3 subunit beta 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:13,927,655...13,956,589
Ensembl chrNW_004955416:13,927,545...13,957,207 		JBrowse link
G Ap4e1 adaptor related protein complex 4 subunit epsilon 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955409:3,476,527...3,532,683 JBrowse link
G Aph1b aph-1 homolog B, gamma-secretase subunit ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:12,000,682...12,022,183
Ensembl chrNW_004955450:12,000,424...12,022,071 		JBrowse link
G Aqp9 aquaporin 9 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:16,253,706...16,346,602
Ensembl chrNW_004955450:16,253,571...16,302,657 		JBrowse link
G Aqr aquarius intron-binding spliceosomal factor ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:2,214,990...2,304,924
Ensembl chrNW_004955416:2,215,490...2,304,726 		JBrowse link
G Arid3b AT-rich interaction domain 3B ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:3,272,820...3,318,820
Ensembl chrNW_004955450:3,271,387...3,319,103 		JBrowse link
G Arih1 ariadne RBR E3 ubiquitin protein ligase 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:4,683,118...4,737,793
Ensembl chrNW_004955450:4,683,118...4,737,994 		JBrowse link
G Arnt2 aryl hydrocarbon receptor nuclear translocator 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:11,279,866...11,429,365
Ensembl chrNW_004955416:11,308,846...11,429,365 		JBrowse link
G Arpp19 cAMP regulated phosphoprotein 19 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955409:2,354,988...2,369,846
Ensembl chrNW_004955409:2,354,988...2,369,846 		JBrowse link
G Atosa atos homolog A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955409:2,261,169...2,345,489
Ensembl chrNW_004955409:2,289,589...2,344,832 		JBrowse link
G Atp8b4 ATPase phospholipid transporting 8B4 (putative) ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955409:4,148,110...4,383,309
Ensembl chrNW_004955409:4,183,493...4,381,356 		JBrowse link
G Aven apoptosis and caspase activation inhibitor ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:690,440...712,391 JBrowse link
G B2m beta-2-microglobulin ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:11,205,503...11,211,325
Ensembl chrNW_004955416:11,204,849...11,215,568 		JBrowse link
G Bahd1 bromo adjacent homology domain containing 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:7,376,794...7,388,577
Ensembl chrNW_004955416:7,361,847...7,388,647 		JBrowse link
G Bbs4 Bardet-Biedl syndrome 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:4,624,634...4,668,470
Ensembl chrNW_004955450:4,631,266...4,662,719 		JBrowse link
G Bcl2a1 BCL2 related protein A1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955533:773,912...785,040
Ensembl chrNW_004955533:773,912...785,037 		JBrowse link
G Blm BLM RecQ like helicase ISO ClinVar Annotator: match by term: Bloom syndrome | ClinVar Annotator: match by term: Bloom-Torre-Machacek syndrome OMIM
ClinVar		 PMID:2678854 PMID:7585968 PMID:7799980 PMID:9285778 PMID:9388480 More... NCBI chrNW_004955416:14,814,753...14,899,865
Ensembl chrNW_004955416:14,842,033...14,899,687 		JBrowse link
G Bloc1s6 biogenesis of lysosomal organelles complex 1 subunit 6 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955409:7,902,125...7,913,966
Ensembl chrNW_004955409:7,899,601...7,913,966 		JBrowse link
G Bmf Bcl2 modifying factor ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:7,048,654...7,068,917
Ensembl chrNW_004955416:7,052,290...7,068,910 		JBrowse link
G Bnc1 basonuclin zinc finger protein 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:13,428,760...13,440,837
Ensembl chrNW_004955416:13,428,760...13,440,921 		JBrowse link
G Bnip2 BCL2 interacting protein 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:15,157,411...15,180,069
Ensembl chrNW_004955450:15,157,226...15,180,069 		JBrowse link
G Btbd1 BTB domain containing 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:13,621,343...13,657,276
Ensembl chrNW_004955416:13,621,118...13,657,581 		JBrowse link
G Bub1b BUB1 mitotic checkpoint serine/threonine kinase B ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:7,105,302...7,159,121
Ensembl chrNW_004955416:7,105,261...7,160,012 		JBrowse link
G Ca12 carbonic anhydrase 12 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:11,927,730...11,975,553
Ensembl chrNW_004955450:11,943,340...11,975,928 		JBrowse link
G Calml4 calmodulin like 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:7,886,565...7,894,143
Ensembl chrNW_004955450:7,887,414...7,894,143 		JBrowse link
G Capn3 calpain 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:9,070,479...9,121,099
Ensembl chrNW_004955416:9,070,399...9,117,794 		JBrowse link
G Catsper2 cation channel sperm associated 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955409:3,925,106...3,940,566 JBrowse link
G Ccdc32 coiled-coil domain containing 32 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:7,464,498...7,482,153
Ensembl chrNW_004955416:7,462,770...7,479,242 		JBrowse link
G Ccdc33 coiled-coil domain containing 33 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:3,485,789...3,576,768
Ensembl chrNW_004955450:3,481,232...3,576,771 		JBrowse link
G Ccdc9b coiled-coil domain containing 9B ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:7,258,446...7,268,342
Ensembl chrNW_004955416:7,257,232...7,267,171 		JBrowse link
G Ccnb2 cyclin B2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:15,558,874...15,587,456
Ensembl chrNW_004955450:15,559,022...15,581,760 		JBrowse link
G Ccndbp1 cyclin D1 binding protein 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:9,772,823...9,782,047
Ensembl chrNW_004955416:9,772,823...9,782,047 		JBrowse link
G Ccpg1 cell cycle progression 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955409:530,734...562,577
Ensembl chrNW_004955409:542,902...561,840 		JBrowse link
G Cd276 CD276 molecule ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:3,884,437...3,896,416 JBrowse link
G Cdan1 codanin 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:9,393,170...9,403,374
Ensembl chrNW_004955416:9,393,197...9,403,370 		JBrowse link
G Cdin1 CDAN1 interacting nuclease 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:3,805,968...4,014,328
Ensembl chrNW_004955416:3,805,341...4,015,232 		JBrowse link
G Celf6 CUGBP Elav-like family member 6 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:4,822,125...4,853,572
Ensembl chrNW_004955450:4,822,125...4,855,238 		JBrowse link
G Cemip cell migration inducing hyaluronidase 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:11,562,047...11,699,925
Ensembl chrNW_004955416:11,613,316...11,699,925 		JBrowse link
G Cep152 centrosomal protein 152 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955409:5,121,332...5,210,729
Ensembl chrNW_004955409:5,122,325...5,210,733 		JBrowse link
G Cfap161 cilia and flagella associated protein 161 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:11,833,610...11,844,452 JBrowse link
G Cgnl1 cingulin like 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:16,785,358...16,913,718
Ensembl chrNW_004955450:16,785,080...16,871,515 		JBrowse link
G Chac1 ChaC glutathione specific gamma-glutamylcyclotransferase 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:7,828,917...7,831,368
Ensembl chrNW_004955416:7,828,482...7,832,391 		JBrowse link
G Chp1 calcineurin like EF-hand protein 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:8,090,034...8,131,605
Ensembl chrNW_004955416:8,090,034...8,132,870 		JBrowse link
G Chrm5 cholinergic receptor muscarinic 5 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:526,718...528,353
Ensembl chrNW_004955416:526,755...528,353 		JBrowse link
G Chrna3 cholinergic receptor nicotinic alpha 3 subunit ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:979,630...1,011,316
Ensembl chrNW_004955450:977,075...1,011,372 		JBrowse link
G Chrna5 cholinergic receptor nicotinic alpha 5 subunit ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:945,400...974,129
Ensembl chrNW_004955450:946,898...974,457 		JBrowse link
G Chrnb4 cholinergic receptor nicotinic beta 4 subunit ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:1,013,897...1,030,232
Ensembl chrNW_004955450:1,013,607...1,030,282 		JBrowse link
G Chst14 carbohydrate sulfotransferase 14 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:7,391,281...7,393,137
Ensembl chrNW_004955416:7,391,282...7,392,355 		JBrowse link
G Ciao2a cytosolic iron-sulfur assembly component 2A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:11,306,099...11,327,688
Ensembl chrNW_004955450:11,306,099...11,331,758 		JBrowse link
G Cib1 calcium and integrin binding 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:15,102,632...15,106,372
Ensembl chrNW_004955416:15,102,632...15,106,372 		JBrowse link
G Cib2 calcium and integrin binding family member 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:660,655...674,726
Ensembl chrNW_004955450:659,383...675,634 		JBrowse link
G Cilp cartilage intermediate layer protein ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:10,231,082...10,244,632
Ensembl chrNW_004955450:10,232,641...10,245,945 		JBrowse link
G Cimap1c ciliary microtubule associated protein 1C ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:2,614,377...2,617,064
Ensembl chrNW_004955450:2,614,261...2,617,324 		JBrowse link
G Clk3 CDC like kinase 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:3,250,169...3,262,977
Ensembl chrNW_004955450:3,250,444...3,262,920 		JBrowse link
G Cln6 CLN6 transmembrane ER protein ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:7,876,572...7,885,305
Ensembl chrNW_004955450:7,876,522...7,886,581 		JBrowse link
G Clpx caseinolytic mitochondrial matrix peptidase chaperone subunit X ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:10,256,124...10,289,832
Ensembl chrNW_004955450:10,256,124...10,289,832 		JBrowse link
G Commd4 COMM domain containing 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:2,891,920...2,895,009
Ensembl chrNW_004955450:2,892,125...2,893,666 		JBrowse link
G Cops2 COP9 signalosome subunit 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955409:4,859,971...4,888,487
Ensembl chrNW_004955409:4,859,972...4,891,575 		JBrowse link
G Coro2b coronin 2B ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:7,522,447...7,573,043
Ensembl chrNW_004955450:7,521,188...7,573,575 		JBrowse link
G Cpeb1 cytoplasmic polyadenylation element binding protein 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:13,963,300...14,038,691
Ensembl chrNW_004955416:13,981,657...14,039,705 		JBrowse link
G Cplx3 complexin 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:3,105,364...3,110,246
Ensembl chrNW_004955450:3,105,203...3,110,374 		JBrowse link
G Crabp1 cellular retinoic acid binding protein 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:810,206...817,011
Ensembl chrNW_004955450:810,151...817,059 		JBrowse link
G Crtc3 CREB regulated transcription coactivator 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:14,672,291...14,768,879
Ensembl chrNW_004955416:14,672,291...14,765,893 		JBrowse link
G Csk C-terminal Src kinase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:3,127,561...3,144,550
Ensembl chrNW_004955450:3,127,561...3,144,550 		JBrowse link
G Csnk1g1 casein kinase 1 gamma 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:11,088,601...11,239,227
Ensembl chrNW_004955450:11,102,257...11,233,601 		JBrowse link
G Cspg4 chondroitin sulfate proteoglycan 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:2,631,310...2,663,118
Ensembl chrNW_004955450:2,631,327...2,662,269 		JBrowse link
G Ctdspl2 CTD small phosphatase like 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:10,970,487...11,046,179
Ensembl chrNW_004955416:10,970,492...11,046,179 		JBrowse link
G Ctsh cathepsin H ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955533:39,237...54,881
Ensembl chrNW_004955533:39,284...54,837 		JBrowse link
G Ctxn2 cortexin 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955409:5,685,318...5,695,682
Ensembl chrNW_004955409:5,685,318...5,695,682 		JBrowse link
G CUNH15orf39 chromosome unknown C15orf39 homolog ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:2,900,456...2,905,748
Ensembl chrNW_004955450:2,900,027...2,913,501 		JBrowse link
G CUNH15orf40 chromosome unknown C15orf40 homolog ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:13,669,931...13,681,991
Ensembl chrNW_004955416:13,670,036...13,674,912 		JBrowse link
G CUNH15orf48 chromosome unknown C15orf48 homolog ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955409:8,023,847...8,027,043
Ensembl chrNW_004955409:8,024,171...8,026,496 		JBrowse link
G CUNH15orf61 chromosome unknown C15orf61 homolog ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:8,473,239...8,480,571
Ensembl chrNW_004955450:8,473,239...8,480,708 		JBrowse link
G CUNH15orf62 chromosome unknown C15orf62 homolog ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:7,621,794...7,624,837
Ensembl chrNW_004955416:7,621,794...7,624,837 		JBrowse link
G Dapk2 death associated protein kinase 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:11,348,566...11,443,908
Ensembl chrNW_004955450:11,348,566...11,455,582 		JBrowse link
G Dennd4a DENN domain containing 4A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:9,723,234...9,851,303
Ensembl chrNW_004955450:9,723,221...9,850,090 		JBrowse link
G Det1 DET1 partner of COP1 E3 ubiquitin ligase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:16,393,199...16,408,144
Ensembl chrNW_004955416:16,393,156...16,408,613 		JBrowse link
G Dis3l DIS3 like exosome 3'-5' exoribonuclease ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:9,279,323...9,313,402
Ensembl chrNW_004955450:9,279,323...9,314,507 		JBrowse link
G Disp2 dispatched RND transporter family member 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:7,282,048...7,297,896
Ensembl chrNW_004955416:7,282,048...7,299,179 		JBrowse link
G Dll4 delta like canonical Notch ligand 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:7,807,049...7,816,346
Ensembl chrNW_004955416:7,807,049...7,817,420 		JBrowse link
G Dmxl2 Dmx like 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955409:2,934,755...3,089,572
Ensembl chrNW_004955409:2,934,740...3,089,703 		JBrowse link
G Dnaaf4 dynein axonemal assembly factor 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955409:498,450...523,067 JBrowse link
G Dnaja4 DnaJ heat shock protein family (Hsp40) member A4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:757,485...771,033
Ensembl chrNW_004955450:757,485...771,033 		JBrowse link
G Dnajc17 DnaJ heat shock protein family (Hsp40) member C17 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:7,620,553...7,672,344
Ensembl chrNW_004955416:7,616,716...7,672,342 		JBrowse link
G Dph6 diphthamine biosynthesis 6 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:2,701,724...2,860,330
Ensembl chrNW_004955416:2,701,724...2,859,802 		JBrowse link
G Dpp8 dipeptidyl peptidase 8 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:9,976,452...10,036,652
Ensembl chrNW_004955450:9,976,452...10,036,652 		JBrowse link
G Dtwd1 DTW domain containing 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955409:4,550,906...4,568,484
Ensembl chrNW_004955409:4,548,237...4,568,477 		JBrowse link
G Duox1 dual oxidase 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955409:8,228,754...8,256,575
Ensembl chrNW_004955409:8,229,199...8,255,003 		JBrowse link
G Duox2 dual oxidase 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955409:8,270,657...8,288,201
Ensembl chrNW_004955409:8,271,164...8,287,096 		JBrowse link
G Duoxa1 dual oxidase maturation factor 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955409:8,256,707...8,266,891
Ensembl chrNW_004955409:8,256,707...8,266,891 		JBrowse link
G Duoxa2 dual oxidase maturation factor 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955409:8,266,873...8,270,486
Ensembl chrNW_004955409:8,266,873...8,270,486 		JBrowse link
G Dut deoxyuridine triphosphatase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955409:5,574,810...5,584,135
Ensembl chrNW_004955409:5,574,694...5,584,134 		JBrowse link
G Edc3 enhancer of mRNA decapping 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:3,193,150...3,249,933
Ensembl chrNW_004955450:3,193,150...3,249,933 		JBrowse link
G Efl1 elongation factor like GTPase 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:12,658,177...12,789,657
Ensembl chrNW_004955416:12,655,563...12,789,731 		JBrowse link
G Ehd4 EH domain containing 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:8,686,709...8,758,096
Ensembl chrNW_004955416:8,686,709...8,739,400 		JBrowse link
G Eid1 EP300 interacting inhibitor of differentiation 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955409:5,066,042...5,067,747
Ensembl chrNW_004955409:5,067,089...5,067,658 		JBrowse link
G Eif2ak4 eukaryotic translation initiation factor 2 alpha kinase 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:6,897,897...7,005,602
Ensembl chrNW_004955416:6,897,848...7,009,965 		JBrowse link
G Eif3j eukaryotic translation initiation factor 3 subunit J ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:11,066,030...11,085,054
Ensembl chrNW_004955416:11,067,782...11,084,305 		JBrowse link
G Ell3 elongation factor for RNA polymerase II 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:10,223,213...10,226,978
Ensembl chrNW_004955416:10,198,508...10,226,120 		JBrowse link
G Emc4 ER membrane protein complex subunit 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:375,736...380,825
Ensembl chrNW_004955416:375,736...380,846 		JBrowse link
G Emc7 ER membrane protein complex subunit 7 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:459,668...482,562
Ensembl chrNW_004955416:459,668...484,278 		JBrowse link
G Epb42 erythrocyte membrane protein band 4.2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:9,784,211...9,800,453
Ensembl chrNW_004955416:9,784,260...9,798,194 		JBrowse link
G Etfa electron transfer flavoprotein subunit alpha ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:1,392,526...1,451,591
Ensembl chrNW_004955450:1,392,479...1,451,591 		JBrowse link
G Exd1 exonuclease 3'-5' domain containing 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:8,032,189...8,089,903 JBrowse link
G Fah fumarylacetoacetate hydrolase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955533:904,294...921,730
Ensembl chrNW_004955533:904,295...921,730 		JBrowse link
G Fam219b family with sequence similarity 219 member B ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:3,054,761...3,060,064
Ensembl chrNW_004955450:3,053,855...3,060,064 		JBrowse link
G Fam227b family with sequence similarity 227 member B ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955409:4,568,562...4,769,010
Ensembl chrNW_004955409:4,586,362...4,770,684 		JBrowse link
G Fam81a family with sequence similarity 81 member A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:15,282,831...15,324,630
Ensembl chrNW_004955450:15,281,897...15,328,648 		JBrowse link
G Fam98b family with sequence similarity 98 member B ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:5,457,232...5,486,744
Ensembl chrNW_004955416:5,457,274...5,487,042 		JBrowse link
G Fanci FA complementation group I ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:15,788,812...15,857,933
Ensembl chrNW_004955416:15,788,922...15,853,480 		JBrowse link
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955409:5,281,603...5,502,547
Ensembl chrNW_004955409:5,281,603...5,504,761 		JBrowse link
G Fbxl22 F-box and leucine rich repeat protein 22 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:11,719,678...11,728,093 JBrowse link
G Fbxo22 F-box protein 22 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:1,152,383...1,171,257
Ensembl chrNW_004955450:1,152,383...1,171,250 		JBrowse link
G Fem1b fem-1 homolog B ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:7,834,487...7,847,334
Ensembl chrNW_004955450:7,834,487...7,847,334 		JBrowse link
G Fes FES proto-oncogene, tyrosine kinase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:14,948,121...14,959,035
Ensembl chrNW_004955416:14,948,123...14,960,005 		JBrowse link
G Fgf7 fibroblast growth factor 7 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955409:4,633,542...4,686,768
Ensembl chrNW_004955409:4,632,858...4,686,860 		JBrowse link
G Foxb1 forkhead box B1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:14,867,941...14,902,990 JBrowse link
G Frmd5 FERM domain containing 5 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:10,338,061...10,683,069
Ensembl chrNW_004955416:10,338,061...10,682,810 		JBrowse link
G Fsd2 fibronectin type III and SPRY domain containing 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:13,864,050...13,898,693
Ensembl chrNW_004955416:13,852,756...13,896,841 		JBrowse link
G Fsip1 fibrous sheath interacting protein 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:6,507,177...6,710,526
Ensembl chrNW_004955416:6,509,477...6,717,115 		JBrowse link
G Furin furin, paired basic amino acid cleaving enzyme ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:14,915,031...14,947,634
Ensembl chrNW_004955416:14,936,546...14,949,252 		JBrowse link
G Gabpb1 GA binding protein transcription factor subunit beta 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955409:3,983,857...4,036,433
Ensembl chrNW_004955409:4,004,480...4,039,681 		JBrowse link
G Galk2 galactokinase 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955409:4,751,764...4,852,395
Ensembl chrNW_004955409:4,751,764...4,860,584 		JBrowse link
G Ganc glucosidase alpha, neutral C ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:8,990,852...9,063,840
Ensembl chrNW_004955416:8,990,852...9,063,826 		JBrowse link
G Gatm glycine amidinotransferase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955409:8,068,524...8,084,603
Ensembl chrNW_004955409:8,068,476...8,084,603 		JBrowse link
G Gchfr GTP cyclohydrolase I feedback regulator ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:7,617,333...7,620,455
Ensembl chrNW_004955416:7,617,333...7,620,455 		JBrowse link
G Gcnt3 glucosaminyl (N-acetyl) transferase 3, mucin type ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:15,204,502...15,211,747
Ensembl chrNW_004955450:15,204,915...15,206,234 		JBrowse link
G Gdpgp1 GDP-D-glucose phosphorylase 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:15,098,922...15,102,499
Ensembl chrNW_004955416:15,098,922...15,102,499 		JBrowse link
G Gjd2 gap junction protein delta 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:2,104,985...2,134,937
Ensembl chrNW_004955416:2,104,985...2,134,937 		JBrowse link
G Glce glucuronic acid epimerase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:7,149,721...7,226,835
Ensembl chrNW_004955450:7,149,721...7,227,524 		JBrowse link
G Gldn gliomedin ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955409:3,128,718...3,179,083
Ensembl chrNW_004955409:3,128,684...3,179,083 		JBrowse link
G Gnb5 G protein subunit beta 5 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955409:2,621,144...2,642,298
Ensembl chrNW_004955409:2,619,718...2,641,308 		JBrowse link
G Golm2 golgi membrane protein 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:10,812,414...10,949,563
Ensembl chrNW_004955416:10,812,722...10,947,505 		JBrowse link
G Gpr176 G protein-coupled receptor 176 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:6,735,790...6,879,078
Ensembl chrNW_004955416:6,735,636...6,878,982 		JBrowse link
G Gramd2a GRAM domain containing 2A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:4,936,357...4,960,643
Ensembl chrNW_004955450:4,954,223...4,960,280 		JBrowse link
G Grem1 gremlin 1, DAN family BMP antagonist ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:1,812,725...1,825,528
Ensembl chrNW_004955416:1,812,676...1,826,271 		JBrowse link
G Gtf2a2 general transcription factor IIA subunit 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:15,181,824...15,195,594 JBrowse link
G Hacd3 3-hydroxyacyl-CoA dehydratase 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:9,923,560...9,947,519
Ensembl chrNW_004955450:9,923,560...9,942,658 		JBrowse link
G Hapln3 hyaluronan and proteoglycan link protein 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:16,105,937...16,122,114
Ensembl chrNW_004955416:16,105,772...16,122,139 		JBrowse link
G Haus2 HAUS augmin like complex subunit 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:9,237,713...9,252,920
Ensembl chrNW_004955416:9,237,731...9,252,561 		JBrowse link
G Hcn4 hyperpolarization activated cyclic nucleotide gated potassium channel 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:4,139,852...4,181,377
Ensembl chrNW_004955450:4,139,852...4,181,377 		JBrowse link
G Hdc histidine decarboxylase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955409:4,051,574...4,072,641
Ensembl chrNW_004955409:4,051,271...4,072,642 		JBrowse link
G Hddc3 HD domain containing 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:14,993,492...14,995,818
Ensembl chrNW_004955416:14,990,031...14,995,818 		JBrowse link
G Herc1 HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:11,525,245...11,719,992
Ensembl chrNW_004955450:11,525,246...11,719,992 		JBrowse link
G Hexa hexosaminidase subunit alpha ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:4,790,342...4,806,862
Ensembl chrNW_004955450:4,790,268...4,806,734 		JBrowse link
G Hmg20a high mobility group 20A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:2,285,444...2,362,696
Ensembl chrNW_004955450:2,285,625...2,353,978 		JBrowse link
G Homer2 homer scaffold protein 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:13,671,115...13,828,413
Ensembl chrNW_004955416:13,741,161...13,818,060 		JBrowse link
G Hykk hydroxylysine kinase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:900,783...918,873
Ensembl chrNW_004955450:900,731...921,051 		JBrowse link
G Hypk huntingtin interacting protein K ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:10,258,357...10,259,699
Ensembl chrNW_004955416:10,258,612...10,259,639 		JBrowse link
G Ice2 interactor of little elongation complex ELL subunit 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:14,462,730...14,512,708 JBrowse link
G Idh2 isocitrate dehydrogenase (NADP(+)) 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:15,197,611...15,212,919
Ensembl chrNW_004955416:15,197,366...15,223,363 		JBrowse link
G Idh3a isocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:685,905...703,593
Ensembl chrNW_004955450:685,905...703,586 		JBrowse link
G Igdcc3 immunoglobulin superfamily DCC subclass member 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:10,087,900...10,121,671
Ensembl chrNW_004955450:10,087,902...10,120,045 		JBrowse link
G Igdcc4 immunoglobulin superfamily DCC subclass member 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:10,057,064...10,083,484
Ensembl chrNW_004955450:10,057,066...10,081,186 		JBrowse link
G Il16 interleukin 16 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:11,876,317...11,987,548 JBrowse link
G Imp3 IMP U3 small nucleolar ribonucleoprotein 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:2,690,814...2,692,336 JBrowse link
G Ino80 INO80 complex ATPase subunit ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:7,870,521...8,020,862
Ensembl chrNW_004955416:7,870,258...7,961,812 		JBrowse link
G Insyn1 inhibitory synaptic factor 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:3,857,563...3,867,905
Ensembl chrNW_004955450:3,857,563...3,867,898 		JBrowse link
G Ints14 integrator complex subunit 14 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:9,892,476...9,925,231
Ensembl chrNW_004955450:9,892,296...9,925,231 		JBrowse link
G Iqch IQ motif containing H ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:8,496,190...8,694,810
Ensembl chrNW_004955450:8,495,931...8,694,636 		JBrowse link
G Iqgap1 IQ motif containing GTPase activating protein 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:14,558,628...14,652,031
Ensembl chrNW_004955416:14,560,292...14,650,036 		JBrowse link
G Ireb2 iron responsive element binding protein 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:852,554...898,908
Ensembl chrNW_004955450:852,554...900,011 		JBrowse link
G Isg20 interferon stimulated exonuclease gene 20 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:16,305,534...16,321,596
Ensembl chrNW_004955416:16,311,499...16,321,102 		JBrowse link
G Isl2 ISL LIM homeobox 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:1,471,586...1,475,702
Ensembl chrNW_004955450:1,470,864...1,475,965 		JBrowse link
G Islr immunoglobulin superfamily containing leucine rich repeat ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:3,604,116...3,607,126 JBrowse link
G Islr2 immunoglobulin superfamily containing leucine rich repeat 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:3,636,575...3,645,521
Ensembl chrNW_004955450:3,636,469...3,645,773 		JBrowse link
G Itga11 integrin subunit alpha 11 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:7,730,936...7,823,342
Ensembl chrNW_004955450:7,730,815...7,824,787 		JBrowse link
G Itpka inositol-trisphosphate 3-kinase A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:8,300,059...8,310,225
Ensembl chrNW_004955416:8,299,318...8,309,865 		JBrowse link
G Ivd isovaleryl-CoA dehydrogenase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:7,327,557...7,341,533
Ensembl chrNW_004955416:7,327,557...7,346,027 		JBrowse link
G Jmjd7 jumonji domain containing 7 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:8,626,931...8,635,337
Ensembl chrNW_004955416:8,626,926...8,633,153 		JBrowse link
G Katnbl1 katanin regulatory subunit B1 like 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:391,335...432,806
Ensembl chrNW_004955416:404,548...432,806 		JBrowse link
G Kbtbd13 kelch repeat and BTB domain containing 13 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:10,344,020...10,347,686
Ensembl chrNW_004955450:10,345,753...10,347,129 		JBrowse link
G Kif23 kinesin family member 23 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:7,060,240...7,083,818
Ensembl chrNW_004955450:7,060,823...7,082,169 		JBrowse link
G Kif7 kinesin family member 7 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:15,555,959...15,570,925
Ensembl chrNW_004955416:15,555,933...15,570,985 		JBrowse link
G Klhl25 kelch like family member 25 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:18,965,966...18,991,099 JBrowse link
G Knl1 kinetochore scaffold 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:7,498,983...7,561,620
Ensembl chrNW_004955416:7,500,415...7,562,273 		JBrowse link
G Knstrn kinetochore localized astrin (SPAG5) binding protein ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:7,311,483...7,322,272
Ensembl chrNW_004955416:7,311,627...7,321,553 		JBrowse link
G Lactb lactamase beta ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:12,140,049...12,155,600
Ensembl chrNW_004955450:12,140,404...12,155,898 		JBrowse link
G Larp6 La ribonucleoprotein 6, translational regulator ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:6,050,260...6,073,388
Ensembl chrNW_004955450:6,050,057...6,073,379 		JBrowse link
G Lcmt2 leucine carboxyl methyltransferase 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:9,890,208...9,892,326 JBrowse link
G Lctl lactase like ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:9,127,151...9,139,836
Ensembl chrNW_004955450:9,127,174...9,139,211 		JBrowse link
G Ldhal6b lactate dehydrogenase A like 6B ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955439:4,954,208...4,956,660 JBrowse link
G Leo1 LEO1 homolog, Paf1/RNA polymerase II complex component ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955409:2,711,475...2,727,879
Ensembl chrNW_004955409:2,711,564...2,727,755 		JBrowse link
G Linc02915 long intergenic non-protein coding RNA 2915 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:6,178,585...6,178,974 JBrowse link
G Lingo1 leucine rich repeat and Ig domain containing 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:2,435,768...2,493,387
Ensembl chrNW_004955450:2,435,662...2,452,213 		JBrowse link
G Lipc lipase C, hepatic type ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:15,947,869...16,062,449
Ensembl chrNW_004955450:15,948,187...16,048,766 		JBrowse link
G Lman1l lectin, mannose binding 1 like ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:3,111,004...3,123,266
Ensembl chrNW_004955450:3,110,952...3,123,131 		JBrowse link
G LOC102005653 cytochrome c oxidase subunit 5A, mitochondrial ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:3,036,387...3,049,121
Ensembl chrNW_004955450:3,035,815...3,051,507 		JBrowse link
G LOC102010322 cytochrome P450 1A2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:3,165,107...3,171,894
Ensembl chrNW_004955450:3,165,106...3,171,942 		JBrowse link
G LOC102010850 cytochrome P450 1A1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:3,183,958...3,189,488
Ensembl chrNW_004955450:3,183,750...3,189,488 		JBrowse link
G LOC102014960 cholesterol side-chain cleavage enzyme, mitochondrial ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:3,433,310...3,484,462
Ensembl chrNW_004955450:3,474,491...3,484,232 		JBrowse link
G LOC102023780 aromatase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955409:3,198,622...3,313,072
Ensembl chrNW_004955409:3,266,233...3,313,142 		JBrowse link
G LOC102024459 arpin ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:15,340,070...15,399,017 JBrowse link
G Loxl1 lysyl oxidase like 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:3,715,109...3,734,641
Ensembl chrNW_004955450:3,715,421...3,735,219 		JBrowse link
G Lpcat4 lysophosphatidylcholine acyltransferase 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:251,057...257,379
Ensembl chrNW_004955416:249,903...257,434 		JBrowse link
G Lrrc49 leucine rich repeat containing 49 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:5,903,345...6,030,279
Ensembl chrNW_004955450:5,903,266...6,030,279 		JBrowse link
G Lrrc57 leucine rich repeat containing 57 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:9,230,362...9,237,799
Ensembl chrNW_004955416:9,230,362...9,237,799 		JBrowse link
G Ltk leukocyte receptor tyrosine kinase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:8,310,304...8,319,463 JBrowse link
G Lysmd2 LysM domain containing 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955409:2,862,478...2,874,017 JBrowse link
G Man2a2 mannosidase alpha class 2A member 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:14,961,405...14,990,284 JBrowse link
G Man2c1 mannosidase alpha class 2C member 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:2,872,577...2,882,743
Ensembl chrNW_004955450:2,872,580...2,882,743 		JBrowse link
G Map1a microtubule associated protein 1A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:10,052,964...10,073,318
Ensembl chrNW_004955416:10,053,010...10,071,421 		JBrowse link
G Map2k1 mitogen-activated protein kinase kinase 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:9,181,851...9,205,277
Ensembl chrNW_004955450:9,181,851...9,239,648 		JBrowse link
G Map2k5 mitogen-activated protein kinase kinase 5 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:8,207,577...8,458,258
Ensembl chrNW_004955450:8,203,569...8,458,258 		JBrowse link
G Mapk6 mitogen-activated protein kinase 6 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955409:2,664,017...2,676,538
Ensembl chrNW_004955409:2,663,569...2,676,544 		JBrowse link
G Mapkbp1 mitogen-activated protein kinase binding protein 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:8,570,684...8,626,748
Ensembl chrNW_004955416:8,571,044...8,626,748 		JBrowse link
G Megf11 multiple EGF like domains 11 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:9,355,134...9,634,747
Ensembl chrNW_004955450:9,355,060...9,632,119 		JBrowse link
G Meis2 Meis homeobox 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:4,104,114...4,311,791
Ensembl chrNW_004955416:4,101,977...4,311,791 		JBrowse link
G Mesd mesoderm development LRP chaperone ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:11,722,388...11,731,758
Ensembl chrNW_004955416:11,722,388...11,731,758 		JBrowse link
G Mesp2 mesoderm posterior bHLH transcription factor 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:15,447,959...15,450,209 JBrowse link
G Mex3b mex-3 RNA binding family member B ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:12,595,887...12,599,455
Ensembl chrNW_004955416:12,595,774...12,599,563 		JBrowse link
G Mfap1 microfibril associated protein 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:10,263,729...10,273,403
Ensembl chrNW_004955416:10,263,729...10,274,188 		JBrowse link
G Mfge8 milk fat globule EGF and factor V/VIII domain containing ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:16,092,263...16,103,097
Ensembl chrNW_004955416:16,091,684...16,103,768 		JBrowse link
G Mga MAX dimerization protein MGA ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:8,416,236...8,566,371
Ensembl chrNW_004955416:8,471,134...8,563,842 		JBrowse link
G Minar1 membrane integral NOTCH2 associated receptor 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955533:408,285...443,217
Ensembl chrNW_004955533:408,225...443,248 		JBrowse link
G Mindy2 MINDY lysine 48 deubiquitinase 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:15,753,892...15,808,205
Ensembl chrNW_004955450:15,753,892...15,808,205 		JBrowse link
G Mns1 meiosis specific nuclear structural 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:17,819,812...17,852,157
Ensembl chrNW_004955450:17,819,929...17,851,762 		JBrowse link
G Morf4l1 mortality factor 4 like 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955533:14,770...28,290
Ensembl chrNW_004955533:14,730...27,643 		JBrowse link
G Mpi mannose phosphate isomerase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:3,061,079...3,071,202
Ensembl chrNW_004955450:3,061,079...3,067,585 		JBrowse link
G Mrpl46 mitochondrial ribosomal protein L46 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:16,445,563...16,453,391
Ensembl chrNW_004955416:16,445,700...16,453,279 		JBrowse link
G Mrps11 mitochondrial ribosomal protein S11 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:16,436,507...16,445,364
Ensembl chrNW_004955416:16,436,769...16,445,991 		JBrowse link
G Mtfmt mitochondrial methionyl-tRNA formyltransferase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:10,399,472...10,415,813
Ensembl chrNW_004955450:10,399,470...10,415,872 		JBrowse link
G Mthfs methenyltetrahydrofolate synthetase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955533:720,255...756,893
Ensembl chrNW_004955533:720,353...756,893 		JBrowse link
G Myef2 myelin expression factor 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955409:5,713,495...5,747,528
Ensembl chrNW_004955409:5,714,124...5,747,140 		JBrowse link
G Myo1e myosin IE ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:15,421,843...15,551,680
Ensembl chrNW_004955450:15,456,580...15,551,584 		JBrowse link
G Myo5a myosin VA ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955409:2,409,503...2,530,539
Ensembl chrNW_004955409:2,428,815...2,530,012 		JBrowse link
G Myo5c myosin VC ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955409:2,543,520...2,612,867
Ensembl chrNW_004955409:2,546,909...2,612,490 		JBrowse link
G Myo9a myosin IXA ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:5,049,797...5,256,934
Ensembl chrNW_004955450:5,049,864...5,252,721 		JBrowse link
G Myzap myocardial zonula adherens protein ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:16,664,673...16,730,769
Ensembl chrNW_004955450:16,664,315...16,730,770 		JBrowse link
G Ndufaf1 NADH:ubiquinone oxidoreductase complex assembly factor 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:8,210,198...8,222,986
Ensembl chrNW_004955416:8,210,410...8,217,138 		JBrowse link
G Nedd4 NEDD4 E3 ubiquitin protein ligase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955409:183,645...281,252
Ensembl chrNW_004955409:183,545...281,318 		JBrowse link
G Neil1 nei like DNA glycosylase 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:2,883,344...2,889,593
Ensembl chrNW_004955450:2,883,560...2,887,736 		JBrowse link
G Neo1 neogenin 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:4,191,168...4,324,997
Ensembl chrNW_004955450:4,191,168...4,375,896 		JBrowse link
G Ngrn neugrin, neurite outgrowth associated ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:15,074,190...15,080,561
Ensembl chrNW_004955416:15,074,190...15,080,561 		JBrowse link
G Nmb neuromedin B ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:14,467,648...14,470,645
Ensembl chrNW_004955416:14,467,650...14,470,515 		JBrowse link
G Nop10 NOP10 ribonucleoprotein ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:272,127...273,068
Ensembl chrNW_004955416:272,127...273,068 		JBrowse link
G Nptn neuroplastin ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:3,938,403...4,002,694
Ensembl chrNW_004955450:3,938,403...4,004,059 		JBrowse link
G Nr2e3 nuclear receptor subfamily 2 group E member 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:5,281,707...5,286,260
Ensembl chrNW_004955450:5,281,707...5,286,260 		JBrowse link
G Nrg4 neuregulin 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:1,174,131...1,243,040
Ensembl chrNW_004955450:1,174,131...1,243,059 		JBrowse link
G Nsmce2 NSE2 (MMS21) homolog, SMC5-SMC6 complex SUMO ligase ISO OMIM:210900 MouseDO NCBI chrNW_004955461:199,356...451,716
Ensembl chrNW_004955461:201,764...451,776 		JBrowse link
G Ntrk3 neurotrophic receptor tyrosine kinase 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:16,652,931...17,018,188
Ensembl chrNW_004955416:16,652,791...17,018,188 		JBrowse link
G Nusap1 nucleolar and spindle associated protein 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:8,178,493...8,208,336
Ensembl chrNW_004955416:8,178,826...8,207,747 		JBrowse link
G Nutm1 NUT midline carcinoma family member 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:258,304...271,670
Ensembl chrNW_004955416:258,202...270,075 		JBrowse link
G Oaz2 ornithine decarboxylase antizyme 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:10,790,629...10,803,411
Ensembl chrNW_004955450:10,790,829...10,802,276 		JBrowse link
G Oip5 Opa interacting protein 5 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:8,168,143...8,178,459
Ensembl chrNW_004955416:8,168,319...8,179,408 		JBrowse link
G Onecut1 one cut homeobox 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955409:2,181,364...2,214,636
Ensembl chrNW_004955409:2,181,346...2,207,888 		JBrowse link
G Pak6 p21 (RAC1) activated kinase 6 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:7,190,584...7,211,705
Ensembl chrNW_004955416:7,178,524...7,212,053 		JBrowse link
G Paqr5 progestin and adipoQ receptor family member 5 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:7,089,521...7,108,981
Ensembl chrNW_004955450:7,089,521...7,108,489 		JBrowse link
G Parp16 poly(ADP-ribose) polymerase family member 16 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:10,157,731...10,177,939
Ensembl chrNW_004955450:10,157,731...10,178,803 		JBrowse link
G Parp6 poly(ADP-ribose) polymerase family member 6 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:4,863,713...4,900,509
Ensembl chrNW_004955450:4,863,564...4,901,847 		JBrowse link
G Patl2 PAT1 homolog 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:11,169,711...11,180,557
Ensembl chrNW_004955416:11,170,829...11,180,247 		JBrowse link
G Pclaf PCNA clamp associated factor ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:11,072,778...11,082,687
Ensembl chrNW_004955450:11,072,786...11,082,687 		JBrowse link
G Pdcd7 programmed cell death 7 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:10,294,184...10,307,234
Ensembl chrNW_004955450:10,294,276...10,306,367 		JBrowse link
G Pde8a phosphodiesterase 8A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:14,063,117...14,204,297
Ensembl chrNW_004955416:14,063,123...14,125,220 		JBrowse link
G Pdia3 protein disulfide isomerase family A member 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:10,197,957...10,221,104
Ensembl chrNW_004955416:10,198,099...10,220,792 		JBrowse link
G Peak1 pseudopodium enriched atypical kinase 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:2,000,823...2,285,023
Ensembl chrNW_004955450:2,005,957...2,068,764 		JBrowse link
G Pex11a peroxisomal biogenesis factor 11 alpha ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:15,527,925...15,537,497
Ensembl chrNW_004955416:15,527,941...15,534,424 		JBrowse link
G Pgbd4 piggyBac transposable element derived 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955496:1,861,479...1,869,071 JBrowse link
G Phgr1 proline, histidine and glycine rich 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:7,277,637...7,280,676 JBrowse link
G Pias1 protein inhibitor of activated STAT 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:7,896,741...7,991,045
Ensembl chrNW_004955450:7,896,741...7,991,027 		JBrowse link
G Pierce2 piercer of microtubule wall 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955409:523,414...530,630
Ensembl chrNW_004955409:523,414...526,391 		JBrowse link
G Pif1 PIF1 5'-to-3' DNA helicase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:10,722,570...10,729,852
Ensembl chrNW_004955450:10,722,016...10,727,565 		JBrowse link
G Pigb phosphatidylinositol glycan anchor biosynthesis class B ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955409:562,575...577,082
Ensembl chrNW_004955409:562,688...577,082 		JBrowse link
G Pkm pyruvate kinase M1/2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:4,907,962...4,935,179
Ensembl chrNW_004955450:4,907,788...4,936,199 		JBrowse link
G Pla2g4b phospholipase A2 group IVB ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:8,633,249...8,643,219
Ensembl chrNW_004955416:8,634,184...8,642,833 		JBrowse link
G Pla2g4d phospholipase A2 group IVD ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:8,841,645...8,860,381
Ensembl chrNW_004955416:8,841,954...8,860,353 		JBrowse link
G Pla2g4e phospholipase A2 group IVE ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:8,765,620...8,826,184
Ensembl chrNW_004955416:8,765,561...8,804,616 		JBrowse link
G Pla2g4f phospholipase A2 group IVF ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:8,876,560...8,889,764
Ensembl chrNW_004955416:8,873,356...8,889,940 		JBrowse link
G Plcb2 phospholipase C beta 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:7,221,326...7,240,743
Ensembl chrNW_004955416:7,218,417...7,240,739 		JBrowse link
G Plekho2 pleckstrin homology domain containing O2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:10,692,305...10,714,031 JBrowse link
G Plin1 perilipin 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:15,538,309...15,549,275
Ensembl chrNW_004955416:15,533,268...15,549,772 		JBrowse link
G Pml PML nuclear body scaffold ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:3,654,854...3,692,057
Ensembl chrNW_004955450:3,656,498...3,692,406 		JBrowse link
G Polg DNA polymerase gamma, catalytic subunit ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:15,773,005...15,788,736
Ensembl chrNW_004955416:15,773,473...15,788,651 		JBrowse link
G Polr2m RNA polymerase II subunit M ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:16,633,975...16,642,085
Ensembl chrNW_004955450:16,635,458...16,641,974 		JBrowse link
G Ppcdc phosphopantothenoylcysteine decarboxylase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:2,971,874...2,985,034
Ensembl chrNW_004955450:2,971,874...2,985,191 		JBrowse link
G Ppib peptidylprolyl isomerase B ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:11,241,279...11,246,628
Ensembl chrNW_004955450:11,241,279...11,249,056 		JBrowse link
G Ppip5k1 diphosphoinositol pentakisphosphate kinase 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:10,074,239...10,113,268
Ensembl chrNW_004955416:10,074,239...10,109,523 		JBrowse link
G Ppp1r14d protein phosphatase 1 regulatory inhibitor subunit 14D ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:7,681,138...7,693,644
Ensembl chrNW_004955416:7,681,138...7,693,644 		JBrowse link
G Prc1 protein regulator of cytokinesis 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:15,023,620...15,045,958
Ensembl chrNW_004955416:15,023,620...15,045,958 		JBrowse link
G Prtg protogenin ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955409:309,885...405,667
Ensembl chrNW_004955409:309,885...405,667 		JBrowse link
G Psma4 proteasome 20S subunit alpha 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:925,070...932,237
Ensembl chrNW_004955450:925,542...936,653 		JBrowse link
G Pstpip1 proline-serine-threonine phosphatase interacting protein 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:1,876,553...1,908,269
Ensembl chrNW_004955450:1,876,409...1,908,185 		JBrowse link
G Ptpn9 protein tyrosine phosphatase non-receptor type 9 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:2,725,755...2,796,390
Ensembl chrNW_004955450:2,725,755...2,796,390 		JBrowse link
G Pygo1 pygopus family PHD finger 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955409:446,548...459,139 JBrowse link
G Rab11a RAB11A, member RAS oncogene family ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:9,638,761...9,656,291
Ensembl chrNW_004955450:9,638,761...9,656,603 		JBrowse link
G Rab27a RAB27A, member RAS oncogene family ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955409:588,725...621,874
Ensembl chrNW_004955409:588,254...621,874 		JBrowse link
G Rab8b RAB8B, member RAS oncogene family ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:12,026,784...12,095,332
Ensembl chrNW_004955450:12,026,784...12,095,422 		JBrowse link
G Rad51 RAD51 recombinase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:7,566,715...7,590,628
Ensembl chrNW_004955416:7,566,686...7,590,628 		JBrowse link
G Ramac RNA guanine-7 methyltransferase activating subunit ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:13,686,997...13,691,792 JBrowse link
G Rasgrf1 Ras protein specific guanine nucleotide releasing factor 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955533:69,736...167,626
Ensembl chrNW_004955533:70,897...167,460 		JBrowse link
G Rasgrp1 RAS guanyl releasing protein 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:5,494,030...5,561,608
Ensembl chrNW_004955416:5,494,030...5,561,614 		JBrowse link
G Rasl12 RAS like family 12 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:10,352,574...10,363,906
Ensembl chrNW_004955450:10,352,574...10,363,906 		JBrowse link
G Rbpms2 RNA binding protein, mRNA processing factor 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:10,746,708...10,770,540
Ensembl chrNW_004955450:10,763,540...10,770,610 		JBrowse link
G Rccd1 RCC1 domain containing 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:15,013,595...15,020,038
Ensembl chrNW_004955416:15,014,340...15,019,173 		JBrowse link
G Rcn2 reticulocalbin 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:1,838,836...1,854,045
Ensembl chrNW_004955450:1,838,734...1,857,254 		JBrowse link
G Rec114 REC114 meiotic recombination protein ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:4,002,734...4,076,292
Ensembl chrNW_004955450:4,002,753...4,076,309 		JBrowse link
G Rfx7 regulatory factor X7 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955409:59,535...121,157
Ensembl chrNW_004955409:59,536...118,315 		JBrowse link
G Rhcg Rh family C glycoprotein ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:15,639,425...15,657,708
Ensembl chrNW_004955416:15,639,551...15,654,293 		JBrowse link
G Rhov ras homolog family member V ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:7,741,762...7,743,816
Ensembl chrNW_004955416:7,738,526...7,744,440 		JBrowse link
G Rlbp1 retinaldehyde binding protein 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:15,862,510...15,873,261
Ensembl chrNW_004955416:15,862,426...15,873,327 		JBrowse link
G Rmdn3 regulator of microtubule dynamics 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:7,591,049...7,610,164
Ensembl chrNW_004955416:7,591,049...7,610,147 		JBrowse link
G Rnf111 ring finger protein 111 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:15,590,053...15,651,344
Ensembl chrNW_004955450:15,587,270...15,624,576 		JBrowse link
G Rora RAR related orphan receptor A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:14,262,199...14,434,611
Ensembl chrNW_004955450:14,262,190...14,425,233 		JBrowse link
G Rpap1 RNA polymerase II associated protein 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:8,322,239...8,348,331
Ensembl chrNW_004955416:8,317,814...8,349,007 		JBrowse link
G Rpl4 ribosomal protein L4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:9,170,372...9,175,224
Ensembl chrNW_004955450:9,169,648...9,176,604 		JBrowse link
G Rplp1 ribosomal protein lateral stalk subunit P1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:7,053,378...7,055,858
Ensembl chrNW_004955450:7,053,378...7,055,858 		JBrowse link
G Rpp25 ribonuclease P and MRP subunit p25 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:3,026,257...3,027,683
Ensembl chrNW_004955450:3,026,502...3,027,065 		JBrowse link
G Rps17 ribosomal protein S17 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:14,039,596...14,042,908
Ensembl chrNW_004955416:14,039,596...14,042,908 		JBrowse link
G Rps27l ribosomal protein S27 like ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:12,122,948...12,126,167
Ensembl chrNW_004955450:12,122,921...12,128,101 		JBrowse link
G Rpusd2 RNA pseudouridine synthase domain containing 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:7,482,226...7,485,654
Ensembl chrNW_004955416:7,482,269...7,487,840 		JBrowse link
G Rsl24d1 ribosomal L24 domain containing 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955409:622,561...632,776
Ensembl chrNW_004955409:622,561...632,776 		JBrowse link
G Rtf1 RTF1 homolog, Paf1/RNA polymerase II complex component ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:8,237,439...8,293,802
Ensembl chrNW_004955416:8,237,439...8,293,802 		JBrowse link
G Ryr3 ryanodine receptor 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:712,506...1,260,111
Ensembl chrNW_004955416:713,373...1,259,885 		JBrowse link
G Saxo2 stabilizer of axonemal microtubules 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:12,789,683...12,811,159
Ensembl chrNW_004955416:12,789,776...12,810,019 		JBrowse link
G Scamp2 secretory carrier membrane protein 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:3,070,944...3,095,168
Ensembl chrNW_004955450:3,070,683...3,095,168 		JBrowse link
G Scamp5 secretory carrier membrane protein 5 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:2,986,522...3,009,655
Ensembl chrNW_004955450:2,986,468...3,009,774 		JBrowse link
G Scaper S-phase cyclin A associated protein in the ER ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:1,479,983...1,821,681
Ensembl chrNW_004955450:1,480,287...1,812,082 		JBrowse link
G Scg3 secretogranin III ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955409:2,876,355...2,907,363
Ensembl chrNW_004955409:2,875,017...2,907,363 		JBrowse link
G Scg5 secretogranin V ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:1,867,848...1,914,505
Ensembl chrNW_004955416:1,866,997...1,914,640 		JBrowse link
G Sec11a SEC11 homolog A, signal peptidase complex subunit ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:14,421,985...14,459,233
Ensembl chrNW_004955416:14,421,988...14,459,233 		JBrowse link
G Secisbp2l SECIS binding protein 2 like ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955409:4,926,330...4,974,889
Ensembl chrNW_004955409:4,926,942...4,975,099 		JBrowse link
G Sema4b semaphorin 4B ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:15,107,258...15,143,338
Ensembl chrNW_004955416:15,108,175...15,130,746 		JBrowse link
G Sema6d semaphorin 6D ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955409:6,086,178...6,143,702
Ensembl chrNW_004955409:6,086,113...6,143,713 		JBrowse link
G Sema7a semaphorin 7A (JohnMiltonHagen blood group) ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:3,401,732...3,424,547
Ensembl chrNW_004955450:3,401,777...3,423,363 		JBrowse link
G Senp8 SUMO peptidase family member, NEDD8 specific ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:4,978,767...5,001,678
Ensembl chrNW_004955450:4,978,767...5,001,678 		JBrowse link
G Serf2 small EDRK-rich factor 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:10,251,533...10,252,429 JBrowse link
G Serinc4 serine incorporator 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:10,255,269...10,257,996 JBrowse link
G Sh2d7 SH2 domain containing 7 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:650,339...660,567
Ensembl chrNW_004955450:650,339...660,567 		JBrowse link
G Sh3gl3 SH3 domain containing GRB2 like 3, endophilin A3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:13,151,288...13,297,878
Ensembl chrNW_004955416:13,150,021...13,297,878 		JBrowse link
G Shc4 SHC adaptor protein 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955409:5,000,209...5,111,352
Ensembl chrNW_004955409:5,046,900...5,115,621 		JBrowse link
G Shf Src homology 2 domain containing F ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955409:8,219,295...8,227,877
Ensembl chrNW_004955409:8,201,663...8,227,921 		JBrowse link
G Sin3a SIN3 transcription regulator family member A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:2,804,551...2,870,450
Ensembl chrNW_004955450:2,808,130...2,870,450 		JBrowse link
G Skic8 SKI8 subunit of superkiller complex ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:771,646...788,895
Ensembl chrNW_004955450:770,750...789,485 		JBrowse link
G Skor1 SKI family transcriptional corepressor 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:8,184,843...8,195,626
Ensembl chrNW_004955450:8,185,523...8,193,777 		JBrowse link
G Slc12a1 solute carrier family 12 member 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955409:5,597,033...5,680,009
Ensembl chrNW_004955409:5,597,033...5,680,009 		JBrowse link
G Slc12a6 solute carrier family 12 member 6 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:277,215...375,812
Ensembl chrNW_004955416:276,987...375,812 		JBrowse link
G Slc24a1 solute carrier family 24 member 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:9,850,170...9,881,172
Ensembl chrNW_004955450:9,856,718...9,881,172 		JBrowse link
G Slc24a5 solute carrier family 24 member 5 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955409:5,747,624...5,768,122
Ensembl chrNW_004955409:5,747,624...5,768,122 		JBrowse link
G Slc27a2 solute carrier family 27 member 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955409:4,077,685...4,112,828
Ensembl chrNW_004955409:4,077,149...4,112,828 		JBrowse link
G Slc28a1 solute carrier family 28 member 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:14,226,411...14,267,962
Ensembl chrNW_004955416:14,226,278...14,268,350 		JBrowse link
G Slc28a2 solute carrier family 28 member 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955409:8,145,723...8,175,256
Ensembl chrNW_004955409:8,144,304...8,175,360 		JBrowse link
G Slc30a4 solute carrier family 30 member 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955409:7,963,454...7,991,600
Ensembl chrNW_004955409:7,963,454...7,995,027 		JBrowse link
G Slc51b SLC51 subunit beta ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:10,365,554...10,374,209
Ensembl chrNW_004955450:10,365,554...10,374,209 		JBrowse link
G Sltm SAFB like transcription modulator ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:15,691,472...15,748,123
Ensembl chrNW_004955450:15,691,463...15,736,709 		JBrowse link
G Smad3 SMAD family member 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:8,747,651...8,842,003
Ensembl chrNW_004955450:8,747,651...8,842,136 		JBrowse link
G Smad6 SMAD family member 6 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:9,005,332...9,070,790 JBrowse link
G Snap23 synaptosome associated protein 23 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:9,191,123...9,225,103
Ensembl chrNW_004955416:9,190,623...9,225,103 		JBrowse link
G Snapc5 small nuclear RNA activating complex polypeptide 5 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:9,176,462...9,197,592
Ensembl chrNW_004955450:9,176,462...9,197,592 		JBrowse link
G Snupn snurportin 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:2,701,496...2,720,971
Ensembl chrNW_004955450:2,691,617...2,722,150 		JBrowse link
G Snx1 sorting nexin 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:11,266,712...11,306,014
Ensembl chrNW_004955450:11,266,712...11,305,930 		JBrowse link
G Snx22 sorting nexin 22 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:11,246,817...11,248,870
Ensembl chrNW_004955450:11,246,817...11,248,874 		JBrowse link
G Snx33 sorting nexin 33 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:2,669,993...2,682,503
Ensembl chrNW_004955450:2,669,993...2,682,503 		JBrowse link
G Sord sorbitol dehydrogenase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955409:8,305,819...8,333,733
Ensembl chrNW_004955409:8,303,602...8,333,869 		JBrowse link
G Spesp1 sperm equatorial segment protein 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:7,355,144...7,370,413
Ensembl chrNW_004955450:7,355,082...7,370,735 		JBrowse link
G Spg11 SPG11 vesicle trafficking associated, spatacsin ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:11,084,448...11,168,478
Ensembl chrNW_004955416:11,086,176...11,168,332 		JBrowse link
G Spg21 SPG21 abhydrolase domain containing, maspardin ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:10,424,394...10,455,680
Ensembl chrNW_004955450:10,424,394...10,457,804 		JBrowse link
G Spint1 serine peptidase inhibitor, Kunitz type 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:7,715,536...7,728,759
Ensembl chrNW_004955416:7,715,536...7,729,158 		JBrowse link
G Sppl2a signal peptide peptidase like 2A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955409:3,642,113...3,670,779
Ensembl chrNW_004955409:3,645,555...3,670,551 		JBrowse link
G Spred1 sprouty related EVH1 domain containing 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:5,288,779...5,376,861
Ensembl chrNW_004955416:5,288,262...5,377,036 		JBrowse link
G Sptbn5 spectrin beta, non-erythrocytic 5 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:8,643,177...8,684,469 JBrowse link
G Sqor sulfide quinone oxidoreductase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955409:7,831,698...7,857,249
Ensembl chrNW_004955409:7,831,636...7,877,562 		JBrowse link
G Srp14 signal recognition particle 14 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:7,006,240...7,009,569
Ensembl chrNW_004955416:7,006,240...7,009,965 		JBrowse link
G Stard5 StAR related lipid transfer domain containing 5 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:11,989,572...12,000,226
Ensembl chrNW_004955416:11,989,572...12,000,226 		JBrowse link
G Stard9 StAR related lipid transfer domain containing 9 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:9,276,026...9,393,842 JBrowse link
G Stoml1 stomatin like 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:3,694,197...3,701,812
Ensembl chrNW_004955450:3,693,864...3,701,291 		JBrowse link
G Stra6 signaling receptor and transporter of retinol STRA6 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:3,579,081...3,602,538
Ensembl chrNW_004955450:3,580,662...3,602,600 		JBrowse link
G Strc stereocilin ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:10,139,420...10,141,906 JBrowse link
G Tbc1d21 TBC1 domain family member 21 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:3,753,758...3,762,727
Ensembl chrNW_004955450:3,753,758...3,763,326 		JBrowse link
G Tbc1d2b TBC1 domain family member 2B ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:579,651...642,237
Ensembl chrNW_004955450:582,223...641,876 		JBrowse link
G Tcf12 transcription factor 12 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:16,979,990...17,375,264
Ensembl chrNW_004955450:16,979,414...17,376,055 		JBrowse link
G Terb2 telomere repeat binding bouquet formation protein 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955409:8,352,685...8,371,576
Ensembl chrNW_004955409:8,352,685...8,371,529 		JBrowse link
G Tex9 testis expressed 9 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:17,885,148...17,942,136
Ensembl chrNW_004955450:17,884,699...17,942,761 		JBrowse link
G Tgm5 transglutaminase 5 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:9,808,903...9,842,784
Ensembl chrNW_004955416:9,805,033...9,842,798 		JBrowse link
G Tgm7 transglutaminase 7 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:9,847,645...9,870,627
Ensembl chrNW_004955416:9,848,874...9,862,166 		JBrowse link
G Thbs1 thrombospondin 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:6,490,034...6,506,419
Ensembl chrNW_004955416:6,489,451...6,506,419 		JBrowse link
G Thsd4 thrombospondin type 1 domain containing 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:5,296,670...5,827,252
Ensembl chrNW_004955450:5,301,765...5,479,638 		JBrowse link
G Ticrr TOPBP1 interacting checkpoint and replication regulator ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:15,572,789...15,615,556
Ensembl chrNW_004955416:15,572,331...15,615,603 		JBrowse link
G Tipin TIMELESS interacting protein ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:9,259,838...9,279,479
Ensembl chrNW_004955450:9,262,717...9,279,401 		JBrowse link
G Tle3 TLE family member 3, transcriptional corepressor ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:6,604,915...6,645,305
Ensembl chrNW_004955450:6,603,879...6,645,602 		JBrowse link
G Tln2 talin 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:12,391,049...12,740,232
Ensembl chrNW_004955450:12,394,377...12,728,925 		JBrowse link
G Tlnrd1 talin rod domain containing 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:11,739,879...11,742,381
Ensembl chrNW_004955416:11,740,758...11,741,825 		JBrowse link
G Tm6sf1 transmembrane 6 superfamily member 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:13,561,872...13,584,238
Ensembl chrNW_004955416:13,561,880...13,584,454 		JBrowse link
G Tmc3 transmembrane channel like 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:12,005,190...12,040,095
Ensembl chrNW_004955416:12,004,943...12,032,870 		JBrowse link
G Tmco5a transmembrane and coiled-coil domains 5A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:5,030,720...5,045,420
Ensembl chrNW_004955416:5,030,657...5,045,691 		JBrowse link
G Tmed3 transmembrane p24 trafficking protein 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955533:327,044...335,030 JBrowse link
G Tmem266 transmembrane protein 266 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:1,282,535...1,384,088
Ensembl chrNW_004955450:1,332,928...1,384,110 		JBrowse link
G Tmem62 transmembrane protein 62 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:9,731,871...9,772,738
Ensembl chrNW_004955416:9,737,616...9,772,738 		JBrowse link
G Tmem87a transmembrane protein 87A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:8,938,758...8,990,800
Ensembl chrNW_004955416:8,937,110...8,990,800 		JBrowse link
G Tmod2 tropomodulin 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955409:2,801,173...2,842,717
Ensembl chrNW_004955409:2,808,543...2,842,844 		JBrowse link
G Tnfaip8l3 TNF alpha induced protein 8 like 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955409:3,427,332...3,451,809 JBrowse link
G Tp53bp1 tumor protein p53 binding protein 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:9,962,736...10,035,433
Ensembl chrNW_004955416:9,962,897...10,035,278 		JBrowse link
G Tpm1 tropomyosin 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:12,197,241...12,223,372
Ensembl chrNW_004955450:12,194,755...12,224,011 		JBrowse link
G Trim69 tripartite motif containing 69 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955409:8,376,449...8,394,651
Ensembl chrNW_004955409:8,376,370...8,394,540 		JBrowse link
G Trip4 thyroid hormone receptor interactor 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:11,005,842...11,088,192
Ensembl chrNW_004955450:11,005,849...11,088,192 		JBrowse link
G Trpm7 transient receptor potential cation channel subfamily M member 7 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955409:3,690,722...3,787,139
Ensembl chrNW_004955409:3,691,039...3,785,908 		JBrowse link
G Tspan3 tetraspanin 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:1,916,067...1,937,364
Ensembl chrNW_004955450:1,916,067...1,937,845 		JBrowse link
G Ttbk2 tau tubulin kinase 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:9,412,297...9,518,561
Ensembl chrNW_004955416:9,412,297...9,559,655 		JBrowse link
G Tubgcp4 tubulin gamma complex component 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:9,933,695...9,962,635
Ensembl chrNW_004955416:9,933,695...9,962,635 		JBrowse link
G Tyro3 TYRO3 protein tyrosine kinase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:8,361,722...8,377,629
Ensembl chrNW_004955416:8,359,207...8,377,692 		JBrowse link
G Uaca uveal autoantigen with coiled-coil domains and ankyrin repeats ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:6,122,271...6,195,345
Ensembl chrNW_004955450:6,122,439...6,197,177 		JBrowse link
G Ubap1l ubiquitin associated protein 1 like ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:10,312,032...10,332,917
Ensembl chrNW_004955450:10,319,407...10,332,646 		JBrowse link
G Ube2q2 ubiquitin conjugating enzyme E2 Q2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:1,102,404...1,151,511
Ensembl chrNW_004955450:1,102,404...1,152,272 		JBrowse link
G Ubl7 ubiquitin like 7 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:3,379,201...3,391,938
Ensembl chrNW_004955450:3,378,600...3,392,601 		JBrowse link
G Ubr1 ubiquitin protein ligase E3 component n-recognin 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:9,571,628...9,731,551
Ensembl chrNW_004955416:9,572,171...9,731,453 		JBrowse link
G Ulk3 unc-51 like kinase 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:3,095,604...3,101,774
Ensembl chrNW_004955450:3,095,607...3,101,832 		JBrowse link
G Unc13c unc-13 homolog C ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955409:889,912...1,325,136
Ensembl chrNW_004955409:891,347...1,325,164 		JBrowse link
G Unc45a unc-45 myosin chaperone A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:14,999,692...15,012,581
Ensembl chrNW_004955416:14,999,375...15,012,581 		JBrowse link
G Ung uracil DNA glycosylase ISO CTD Direct Evidence: marker/mechanism CTD PMID:2106500 NCBI chrNW_004955455:10,266,989...10,282,196
Ensembl chrNW_004955455:10,266,989...10,282,196 		JBrowse link
G Usp3 ubiquitin specific peptidase 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:11,729,433...11,802,462
Ensembl chrNW_004955450:11,727,104...11,802,462 		JBrowse link
G Usp50 ubiquitin specific peptidase 50 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955409:3,788,723...3,838,077
Ensembl chrNW_004955409:3,788,903...3,837,983 		JBrowse link
G Usp8 ubiquitin specific peptidase 8 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955409:3,839,308...3,903,595
Ensembl chrNW_004955409:3,840,007...3,891,284 		JBrowse link
G Vps13c vacuolar protein sorting 13 homolog C ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:13,016,933...13,178,797
Ensembl chrNW_004955450:13,016,950...13,174,990 		JBrowse link
G Vps18 VPS18 core subunit of CORVET and HOPS complexes ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:7,772,653...7,780,408
Ensembl chrNW_004955416:7,772,653...7,782,542 		JBrowse link
G Vps39 VPS39 subunit of HOPS complex ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:8,893,249...8,936,351
Ensembl chrNW_004955416:8,893,249...8,936,351 		JBrowse link
G Wdr72 WD repeat domain 72 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955409:1,451,506...1,631,976
Ensembl chrNW_004955409:1,467,732...1,674,042 		JBrowse link
G Wdr73 WD repeat domain 73 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:14,471,479...14,485,416
Ensembl chrNW_004955416:14,471,421...14,485,201 		JBrowse link
G Wdr76 WD repeat domain 76 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:10,280,112...10,337,963
Ensembl chrNW_004955416:10,279,835...10,335,521 		JBrowse link
G Wdr93 WD repeat domain 93 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:15,472,866...15,527,853
Ensembl chrNW_004955416:15,472,742...15,517,144 		JBrowse link
G Whamm WASP homolog associated with actin, golgi membranes and microtubules ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:13,825,925...13,849,883
Ensembl chrNW_004955416:13,826,372...13,849,245 		JBrowse link
G Zfand6 zinc finger AN1-type containing 6 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955533:823,883...895,713
Ensembl chrNW_004955533:877,985...894,934 		JBrowse link
G Zfyve19 zinc finger FYVE-type containing 19 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:7,672,499...7,679,851
Ensembl chrNW_004955416:7,672,592...7,679,632 		JBrowse link
G Znf106 zinc finger protein 106 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:9,118,812...9,183,583 JBrowse link
G Znf280d zinc finger protein 280D ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:17,596,940...17,681,746
Ensembl chrNW_004955450:17,604,832...17,679,801 		JBrowse link
G Znf592 zinc finger protein 592 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:14,328,250...14,365,346
Ensembl chrNW_004955416:14,326,603...14,365,400 		JBrowse link
G Znf609 zinc finger protein 609 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:10,804,761...11,002,569
Ensembl chrNW_004955450:10,808,638...10,974,590 		JBrowse link
G Znf710 zinc finger protein 710 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:15,215,542...15,278,742 JBrowse link
G Znf770 zinc finger protein 770 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:2,310,024...2,318,482
Ensembl chrNW_004955416:2,310,033...2,318,300 		JBrowse link
G Zscan2 zinc finger and SCAN domain containing 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:14,498,737...14,514,178
Ensembl chrNW_004955416:14,498,183...14,514,178 		JBrowse link
G Zscan29 zinc finger and SCAN domain containing 29 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:9,921,036...9,933,622
Ensembl chrNW_004955416:9,921,036...9,933,620 		JBrowse link
G Zwilch zwilch kinetochore protein ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:9,139,214...9,170,136
Ensembl chrNW_004955450:9,139,169...9,169,921 		JBrowse link
Borjeson-Forssman-Lehmann syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Phf6 PHD finger protein 6 ISO ClinVar Annotator: match by term: Borjeson-Forssman-Lehmann syndrome | ClinVar Annotator: match by term: MENTAL RETARDATION, EPILEPSY, AND ENDOCRINE DISORDERS | ClinVar Annotator: match by term: Mental deficiency, epilepsy and endocrine disorders OMIM
ClinVar		 PMID:12415272 PMID:13871358 PMID:15241480 PMID:15466013 PMID:15994862 More... NCBI chrNW_004955473:527,005...586,589
Ensembl chrNW_004955473:527,005...586,627 		JBrowse link
Bowen-Conradi syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Emg1 EMG1 N1-specific pseudouridine methyltransferase ISO ClinVar Annotator: match by term: Bowen-Conradi syndrome OMIM
ClinVar		 PMID:19463982 PMID:25741868 PMID:28492532 NCBI chrNW_004955413:4,563,864...4,570,809
Ensembl chrNW_004955413:4,563,864...4,570,809 		JBrowse link
brachydactyly type E2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pthlh parathyroid hormone like hormone ISO ClinVar Annotator: match by term: Brachydactyly type E2 OMIM
ClinVar		 PMID:20170896 PMID:25741868 PMID:25801215 PMID:26763883 PMID:29947179 More... NCBI chrNW_004955505:6,834,533...6,846,909
Ensembl chrNW_004955505:6,834,533...6,847,335 		JBrowse link
Braddock-Carey Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kif15 kinesin family member 15 ISO ClinVar Annotator: match by term: Braddock-carey syndrome 2 OMIM
ClinVar		 PMID:28150392 NCBI chrNW_004955420:26,774,506...26,828,301
Ensembl chrNW_004955420:26,775,120...26,827,660 		JBrowse link
chromosome 15q26-qter deletion syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adamts17 ADAM metallopeptidase with thrombospondin type 1 motif 17 ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chrNW_004955416:27,128,066...27,434,826
Ensembl chrNW_004955416:27,130,559...27,434,747 		JBrowse link
G Aldh1a3 aldehyde dehydrogenase 1 family member A3 ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chrNW_004955416:27,823,611...27,858,112
Ensembl chrNW_004955416:27,823,611...27,858,173 		JBrowse link
G Asb7 ankyrin repeat and SOCS box containing 7 ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chrNW_004955416:27,610,011...27,649,186
Ensembl chrNW_004955416:27,610,011...27,649,356 		JBrowse link
G Cers3 ceramide synthase 3 ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chrNW_004955416:27,461,950...27,577,145
Ensembl chrNW_004955416:27,461,335...27,536,188 		JBrowse link
G Chsy1 chondroitin sulfate synthase 1 ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chrNW_004955416:28,070,981...28,136,848
Ensembl chrNW_004955416:28,070,710...28,135,590 		JBrowse link
G Igf1r insulin like growth factor 1 receptor ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chrNW_004955416:26,101,090...26,382,660
Ensembl chrNW_004955416:26,102,628...26,382,666 		JBrowse link
G Lins1 lines homolog 1 ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chrNW_004955416:27,585,172...27,609,780
Ensembl chrNW_004955416:27,586,257...27,595,117 		JBrowse link
G Lrrc28 leucine rich repeat containing 28 ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chrNW_004955416:26,668,712...26,786,945
Ensembl chrNW_004955416:26,668,712...26,789,756 		JBrowse link
G Lrrk1 leucine rich repeat kinase 1 ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chrNW_004955416:27,860,934...27,988,279
Ensembl chrNW_004955416:27,865,784...27,988,279 		JBrowse link
G Lysmd4 LysM domain containing 4 ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chrNW_004955416:27,057,845...27,063,459
Ensembl chrNW_004955416:27,059,941...27,063,459 		JBrowse link
G Mef2a myocyte enhancer factor 2A ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chrNW_004955416:26,926,753...27,051,171
Ensembl chrNW_004955416:26,953,798...27,051,171 		JBrowse link
G Pgpep1l pyroglutamyl-peptidase I like ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chrNW_004955416:26,069,466...26,094,419 JBrowse link
G Synm synemin ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chrNW_004955416:26,554,074...26,579,804
Ensembl chrNW_004955416:26,554,703...26,578,761 		JBrowse link
G Ttc23 tetratricopeptide repeat domain 23 ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chrNW_004955416:26,583,219...26,664,519
Ensembl chrNW_004955416:26,583,648...26,657,059 		JBrowse link
chromosome 17q11.2 deletion syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rnf135 ring finger protein 135 ISO ClinVar Annotator: match by term: Chromosome 17q11.2 deletion syndrome, 1.4Mb | ClinVar Annotator: match by term: Macrocephaly, macrosomia, facial dysmorphism syndrome ClinVar PMID:17632510 PMID:21681106 PMID:25741868 PMID:27535533 PMID:28135719 More... NCBI chrNW_004955481:7,111,760...7,122,800 JBrowse link
Clark-Baraitser syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trip12 thyroid hormone receptor interactor 12 ISO ClinVar Annotator: match by term: Clark-Baraitser syndrome | ClinVar Annotator: match by term: TRIP12-related condition OMIM
ClinVar		 PMID:3812552 PMID:25363768 PMID:25741868 PMID:27848077 PMID:28251352 More... NCBI chrNW_004955453:5,132,776...5,272,250
Ensembl chrNW_004955453:5,134,016...5,271,399 		JBrowse link
CODAS syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lonp1 lon peptidase 1, mitochondrial ISO ClinVar Annotator: match by term: CODAS syndrome | ClinVar Annotator: match by term: LONP1-related condition OMIM
ClinVar		 PMID:1887855 PMID:5574826 PMID:9536098 PMID:17576681 PMID:25574826 More... NCBI chrNW_004955495:3,712,173...3,729,556
Ensembl chrNW_004955495:3,712,199...3,731,301 		JBrowse link
Congenital Progeroid Syndrome, Petty Type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc25a24 solute carrier family 25 member 24 ISO ClinVar Annotator: match by term: Fontaine progeroid syndrome OMIM
ClinVar		 PMID:10215548 PMID:10594888 PMID:19731360 PMID:21216154 PMID:25741868 More... NCBI chrNW_004955435:11,895,475...11,933,153
Ensembl chrNW_004955435:11,895,405...11,933,153 		JBrowse link
Cousin Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tbx15 T-box transcription factor 15 ISO ClinVar Annotator: match by term: Craniofacial dysmorphism, hypoplasia of scapula and pelvis and short stature | ClinVar Annotator: match by term: Pelviscapular dysplasia OMIM
ClinVar		 PMID:19068278 PMID:25741868 PMID:28492532 NCBI chrNW_004955435:21,874,154...21,993,510
Ensembl chrNW_004955435:21,872,201...21,993,772 		JBrowse link
diphthamide deficiency syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dph1 diphthamide biosynthesis 1 ISO ClinVar Annotator: match by term: Developmental delay with short stature, dysmorphic facial features, and sparse hair 1 | ClinVar Annotator: match by term: Developmental delay with short stature, dysmorphic features, and sparse hair OMIM
ClinVar		 PMID:25558065 PMID:25741868 PMID:29565416 PMID:30877278 PMID:32732226 More... NCBI chrNW_004955481:1,194,428...1,205,231
Ensembl chrNW_004955481:1,194,428...1,205,231 		JBrowse link
DNA ligase IV deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lig4 DNA ligase 4 ISO ClinVar Annotator: match by term: DNA ligase IV deficiency | ClinVar Annotator: match by term: LIG4-Related Disorders | ClinVar Annotator: match by term: Lig4 syndrome OMIM
ClinVar		 PMID:1779494 PMID:2489227 PMID:2523926 PMID:5333585 PMID:7063650 More... NCBI chrNW_004955404:3,606,077...3,615,193
Ensembl chrNW_004955404:3,606,077...3,615,193 		JBrowse link
ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Grhl2 grainyhead like transcription factor 2 ISO ClinVar Annotator: match by term: Ectodermal dysplasia/short stature syndrome OMIM
ClinVar		 PMID:24033266 PMID:25152456 PMID:25741868 PMID:28492532 NCBI chrNW_004955417:26,401,337...26,533,297
Ensembl chrNW_004955417:26,401,363...26,533,297 		JBrowse link
EVEN-PLUS SYNDROME term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hspa9 heat shock protein family A (Hsp70) member 9 ISO ClinVar Annotator: match by term: EPIPHYSEAL AND VERTEBRAL DYSPLASIA, MICROTIA, AND FLAT NOSE, PLUS ASSOCIATED MALFORMATIONS | ClinVar Annotator: match by term: Even-plus syndrome OMIM
ClinVar		 PMID:25741868 PMID:26598328 PMID:28492532 NCBI chrNW_004955418:1,915,985...1,931,017
Ensembl chrNW_004955418:1,915,985...1,931,017 		JBrowse link
Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pole DNA polymerase epsilon, catalytic subunit ISO ClinVar Annotator: match by term: Facial dysmorphism, immunodeficiency, livedo, and short stature ClinVar
OMIM		 PMID:9536098 PMID:16699561 PMID:17576681 PMID:20091185 PMID:21129811 More... NCBI chrNW_004955482:373,467...418,000
Ensembl chrNW_004955482:373,555...417,266 		JBrowse link
fetal akinesia deformation sequence syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acta1 actin alpha 1, skeletal muscle ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence ClinVar PMID:25741868 PMID:33060286 NCBI chrNW_004955492:8,644,696...8,647,412
Ensembl chrNW_004955492:8,644,146...8,647,523 		JBrowse link
G Dok7 docking protein 7 ISO ClinVar Annotator: match by term: Pena Shokeir syndrome, type 1 ClinVar PMID:2261499 PMID:16199547 PMID:16794080 PMID:16917026 PMID:17439981 More... NCBI chrNW_004955514:2,166,263...2,190,211
Ensembl chrNW_004955514:2,166,079...2,190,128 		JBrowse link
G Musk muscle associated receptor tyrosine kinase ISO ClinVar Annotator: match by term: Pena Shokeir syndrome, type 1 ClinVar PMID:9536098 PMID:15496425 PMID:17576681 PMID:23326516 PMID:24122059 More... NCBI chrNW_004955419:16,387,770...16,484,266
Ensembl chrNW_004955419:16,387,770...16,484,266 		JBrowse link
G Prg4 proteoglycan 4 ISO ClinVar Annotator: match by term: Pena Shokeir syndrome, type 1 ClinVar PMID:25741868 PMID:31680123 NCBI chrNW_004955406:24,726,483...24,742,590 JBrowse link
G Rapsn receptor associated protein of the synapse ISO ClinVar Annotator: match by term: Pena Shokeir syndrome, type 1 ClinVar PMID:2245297 PMID:11791205 PMID:12651869 PMID:15145336 PMID:15282317 More... NCBI chrNW_004955422:826,556...834,483
Ensembl chrNW_004955422:826,727...834,289 		JBrowse link
G Ryr1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Pena Shokeir syndrome, type 1 ClinVar PMID:20839240 PMID:21911697 PMID:22473935 PMID:23394784 PMID:25658027 More... NCBI chrNW_004955468:879,807...1,000,118
Ensembl chrNW_004955468:879,951...1,000,036 		JBrowse link
fetal akinesia deformation sequence syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acp2 acid phosphatase 2, lysosomal ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:17686188 PMID:28492532 NCBI chrNW_004955422:954,108...961,522
Ensembl chrNW_004955422:954,089...961,522 		JBrowse link
G Acta1 actin alpha 1, skeletal muscle ISO ClinVar Annotator: match by term: ARTHROGRYPOSIS MULTIPLEX CONGENITA WITH PULMONARY HYPOPLASIA | ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:19562689 PMID:25741868 PMID:28492532 PMID:31680123 PMID:33060286 NCBI chrNW_004955492:8,644,696...8,647,412
Ensembl chrNW_004955492:8,644,146...8,647,523 		JBrowse link
G Adss1 adenylosuccinate synthase 1 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:26506222 PMID:28492532 PMID:31680123 NCBI chrNW_004955538:3,179,299...3,196,251
Ensembl chrNW_004955538:3,179,299...3,196,251 		JBrowse link
G Aldh5a1 aldehyde dehydrogenase 5 family member A1 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:31680123 NCBI chrNW_004955483:2,467,425...2,494,416
Ensembl chrNW_004955483:2,467,425...2,494,416 		JBrowse link
G Arfgap2 ADP ribosylation factor GTPase activating protein 2 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:17686188 PMID:28492532 NCBI chrNW_004955422:995,672...1,006,008
Ensembl chrNW_004955422:995,672...1,006,008 		JBrowse link
G Asah1 N-acylsphingosine amidohydrolase 1 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:28492532 PMID:29140481 PMID:31680123 NCBI chrNW_004955552:1,623,263...1,660,285
Ensembl chrNW_004955552:1,623,738...1,659,086 		JBrowse link
G Ascc1 activating signal cointegrator 1 complex subunit 1 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:8677029 PMID:25741868 PMID:28749478 PMID:31680123 NCBI chrNW_004955437:19,381,279...19,487,057
Ensembl chrNW_004955437:19,381,279...19,490,822 		JBrowse link
G Aspm assembly factor for spindle microtubules ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:31680123 NCBI chrNW_004955406:33,665,675...33,720,468
Ensembl chrNW_004955406:33,661,322...33,720,259 		JBrowse link
G Atp2b3 ATPase plasma membrane Ca2+ transporting 3 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:31680123 NCBI chrNW_004955580:286,092...332,657
Ensembl chrNW_004955580:269,100...333,471 		JBrowse link
G Aven apoptosis and caspase activation inhibitor ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:31680123 NCBI chrNW_004955416:690,440...712,391 JBrowse link
G Bltp1 bridge-like lipid transfer protein family member 1 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:31680123 NCBI chrNW_004955428:18,224,987...18,424,425
Ensembl chrNW_004955428:18,224,987...18,424,425 		JBrowse link
G Chrnd cholinergic receptor nicotinic delta subunit ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:31680123 NCBI chrNW_004955453:3,433,915...3,440,534
Ensembl chrNW_004955453:3,433,341...3,440,269 		JBrowse link
G Cntnap1 contactin associated protein 1 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:31680123 NCBI chrNW_004955451:16,535,924...16,547,800
Ensembl chrNW_004955451:16,536,416...16,547,213 		JBrowse link
G Cstpp1 centriolar satellite-associated tubulin polyglutamylase complex regulator 1 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:17686188 PMID:28492532 NCBI chrNW_004955422:1,005,941...1,179,128
Ensembl chrNW_004955422:1,005,941...1,172,618 		JBrowse link
G Ddb2 damage specific DNA binding protein 2 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:17686188 PMID:28492532 NCBI chrNW_004955422:961,602...977,066
Ensembl chrNW_004955422:961,893...974,338 		JBrowse link
G Dok7 docking protein 7 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 | ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:1483054 PMID:2261499 PMID:9536098 PMID:10222457 PMID:16199547 More... NCBI chrNW_004955514:2,166,263...2,190,211
Ensembl chrNW_004955514:2,166,079...2,190,128 		JBrowse link
G Dqx1 DEAQ-box RNA dependent ATPase 1 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:31680123 NCBI chrNW_004955424:11,262,502...11,271,680
Ensembl chrNW_004955424:11,262,502...11,271,680 		JBrowse link
G Dync1h1 dynein cytoplasmic 1 heavy chain 1 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:28492532 PMID:31680123 NCBI chrNW_004955538:1,388,595...1,458,166
Ensembl chrNW_004955538:1,390,137...1,458,025 		JBrowse link
G Ears2 glutamyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:28492532 PMID:31680123 NCBI chrNW_004955493:2,083,272...2,113,403
Ensembl chrNW_004955493:2,090,940...2,113,843 		JBrowse link
G Exosc3 exosome component 3 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:22544365 PMID:23883322 PMID:24524299 PMID:25741868 PMID:28053271 More... NCBI chrNW_004955419:28,683,896...28,692,006
Ensembl chrNW_004955419:28,683,896...28,693,395 		JBrowse link
G Fbln1 fibulin 1 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:31680123 NCBI chrNW_004955413:29,837,134...29,911,313
Ensembl chrNW_004955413:29,837,134...29,912,222 		JBrowse link
G Fbn2 fibrillin 2 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25558065 NCBI chrNW_004955415:1,307,553...1,535,435
Ensembl chrNW_004955415:1,309,077...1,537,052 		JBrowse link
G Gbe1 1,4-alpha-glucan branching enzyme 1 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:28492532 PMID:31680123 NCBI chrNW_004955407:10,692,082...10,959,236
Ensembl chrNW_004955407:10,692,303...10,963,489 		JBrowse link
G Gcn1 GCN1 activator of EIF2AK4 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:31680123 NCBI chrNW_004955455:11,416,222...11,474,791
Ensembl chrNW_004955455:11,416,237...11,474,207 		JBrowse link
G Gfra4 GDNF family receptor alpha 4 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:31680123 NCBI chrNW_004955415:14,513,183...14,514,140 JBrowse link
G Gldn gliomedin ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:31680123 NCBI chrNW_004955409:3,128,718...3,179,083
Ensembl chrNW_004955409:3,128,684...3,179,083 		JBrowse link
G Iqsec3 IQ motif and Sec7 domain ArfGEF 3 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:31680123 NCBI chrNW_004955454:6,978,317...7,079,490
Ensembl chrNW_004955454:6,981,338...7,079,486 		JBrowse link
G Lgi4 leucine rich repeat LGI family member 4 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:31680123 NCBI chrNW_004955468:4,441,808...4,456,884
Ensembl chrNW_004955468:4,445,155...4,453,610 		JBrowse link
G Lrp4 LDL receptor related protein 4 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:17686188 PMID:28492532 NCBI chrNW_004955422:1,191,338...1,238,227
Ensembl chrNW_004955422:1,191,338...1,238,227 		JBrowse link
G Madd MAP kinase activating death domain ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:17686188 PMID:28492532 NCBI chrNW_004955422:902,969...940,201
Ensembl chrNW_004955422:902,969...940,201 		JBrowse link
G Magi3 membrane associated guanylate kinase, WW and PDZ domain containing 3 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:31680123 NCBI chrNW_004955435:16,735,598...16,974,005
Ensembl chrNW_004955435:16,735,598...16,972,204 		JBrowse link
G Musk muscle associated receptor tyrosine kinase ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 | ClinVar Annotator: match by term: Fetal akinesia sequence | ClinVar Annotator: match by term: Pena-Shokeir syndrome type I OMIM
ClinVar		 PMID:8653786 PMID:9536098 PMID:15184594 PMID:15496425 PMID:16199547 More... NCBI chrNW_004955419:16,387,770...16,484,266
Ensembl chrNW_004955419:16,387,770...16,484,266 		JBrowse link
G Mybpc3 myosin binding protein C3 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:17686188 PMID:28492532 NCBI chrNW_004955422:888,529...902,074
Ensembl chrNW_004955422:888,589...901,725 		JBrowse link
G Naga alpha-N-acetylgalactosaminidase ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:31680123 NCBI chrNW_004955413:27,463,931...27,472,273
Ensembl chrNW_004955413:27,461,998...27,472,273 		JBrowse link
G Nalcn sodium leak channel, non-selective ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:27214504 PMID:31680123 NCBI chrNW_004955404:9,603,567...9,894,688
Ensembl chrNW_004955404:9,603,562...9,895,817 		JBrowse link
G Nf1 neurofibromin 1 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:16138229 PMID:23656349 PMID:24033266 PMID:25326637 PMID:25741868 More... NCBI chrNW_004955481:6,145,855...6,404,179
Ensembl chrNW_004955481:6,145,855...6,404,179 		JBrowse link
G Nr1h3 nuclear receptor subfamily 1 group H member 3 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:17686188 PMID:28492532 NCBI chrNW_004955422:940,310...954,170
Ensembl chrNW_004955422:940,310...949,049 		JBrowse link
G Pacsin3 protein kinase C and casein kinase substrate in neurons 3 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:17686188 PMID:28492532 NCBI chrNW_004955422:989,605...995,140 JBrowse link
G Piezo2 piezo type mechanosensitive ion channel component 2 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:8423615 PMID:11152147 PMID:24726473 PMID:25741868 PMID:27714920 More... NCBI chrNW_004955402:1,534,619...1,873,143
Ensembl chrNW_004955402:1,650,726...1,871,876 		JBrowse link
G Prg4 proteoglycan 4 ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:25741868 PMID:31680123 NCBI chrNW_004955406:24,726,483...24,742,590 JBrowse link
G Prickle1 prickle planar cell polarity protein 1 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:31680123 NCBI chrNW_004955500:1,897,899...1,990,791
Ensembl chrNW_004955500:1,897,912...1,990,875 		JBrowse link
G Psmc3 proteasome 26S subunit, ATPase 3 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:17686188 PMID:28492532 NCBI chrNW_004955422:837,934...843,161
Ensembl chrNW_004955422:837,573...845,341 		JBrowse link
G Rapsn receptor associated protein of the synapse ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 | ClinVar Annotator: match by term: RAPSN-Related Disorders
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 | ClinVar Annotator: match by term: Fetal akinesia sequence | ClinVar Annotator: match by term: Pena-Shokeir syndrome type I | ClinVar Annotator: match by term: RAPSN-Related Disorders		 ClinVar PMID:2245297 PMID:9536098 PMID:11791205 PMID:12651869 PMID:12730725 More... NCBI chrNW_004955422:826,556...834,483
Ensembl chrNW_004955422:826,727...834,289 		JBrowse link
G Ror2 receptor tyrosine kinase like orphan receptor 2 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:28492532 PMID:31680123 NCBI chrNW_004955515:313,612...554,751
Ensembl chrNW_004955515:313,604...553,774 		JBrowse link
G Ryr1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 | ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:20839240 PMID:21911697 PMID:22473935 PMID:23394784 PMID:25658027 More... NCBI chrNW_004955468:879,807...1,000,118
Ensembl chrNW_004955468:879,951...1,000,036 		JBrowse link
G Ryr3 ryanodine receptor 3 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:31680123 NCBI chrNW_004955416:712,506...1,260,111
Ensembl chrNW_004955416:713,373...1,259,885 		JBrowse link
G Scn4a sodium voltage-gated channel alpha subunit 4 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:31680123 NCBI chrNW_004955478:7,861,585...7,906,192
Ensembl chrNW_004955478:7,861,585...7,906,192 		JBrowse link
G Scn5a sodium voltage-gated channel alpha subunit 5 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:23861362 PMID:25741868 PMID:28492532 PMID:31680123 NCBI chrNW_004955427:25,295,517...25,371,419
Ensembl chrNW_004955427:25,295,514...25,371,552 		JBrowse link
G Scn8a sodium voltage-gated channel alpha subunit 8 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:31680123 NCBI chrNW_004955547:2,086,215...2,201,300
Ensembl chrNW_004955547:2,086,178...2,195,971 		JBrowse link
G Setbp1 SET binding protein 1 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:18414213 PMID:20436468 PMID:25028416 PMID:25741868 PMID:28346496 More... NCBI chrNW_004955402:30,380,346...30,738,869
Ensembl chrNW_004955402:30,380,346...30,734,144 		JBrowse link
G Slc39a13 solute carrier family 39 member 13 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:17686188 PMID:28492532 NCBI chrNW_004955422:845,076...852,772
Ensembl chrNW_004955422:845,678...852,772 		JBrowse link
G Spag16 sperm associated antigen 16 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:31680123 NCBI chrNW_004955457:1,543,946...2,492,686 JBrowse link
G Spi1 Spi-1 proto-oncogene ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:17686188 PMID:28492532 NCBI chrNW_004955422:873,735...886,560
Ensembl chrNW_004955422:873,735...886,560 		JBrowse link
G Svep1 sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:28492532 NCBI chrNW_004955419:16,589,811...16,773,425
Ensembl chrNW_004955419:16,589,811...16,777,001 		JBrowse link
G Tmpo thymopoietin ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:31680123 NCBI chrNW_004955405:34,526,420...34,556,740
Ensembl chrNW_004955405:34,535,306...34,554,835 		JBrowse link
G Unc50 unc-50 inner nuclear membrane RNA binding protein ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:31680123 NCBI chrNW_004955470:5,050,982...5,059,890 JBrowse link
G Vps13d vacuolar protein sorting 13 homolog D ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:28492532 PMID:31680123 NCBI chrNW_004955486:1,515,630...1,772,107
Ensembl chrNW_004955486:1,513,712...1,767,956 		JBrowse link
G Zeb2 zinc finger E-box binding homeobox 2 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:31680123 NCBI chrNW_004955440:10,755,658...10,881,044
Ensembl chrNW_004955440:10,756,014...10,795,491 		JBrowse link
fetal akinesia deformation sequence syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rapsn receptor associated protein of the synapse ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 2 OMIM
ClinVar		 PMID:2245297 PMID:11791205 PMID:12651869 PMID:12730725 PMID:12796535 More... NCBI chrNW_004955422:826,556...834,483
Ensembl chrNW_004955422:826,727...834,289 		JBrowse link
fetal akinesia deformation sequence syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dock7 dedicator of cytokinesis 7 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 3 ClinVar PMID:25741868 NCBI chrNW_004955423:27,043,621...27,233,710
Ensembl chrNW_004955423:27,044,341...27,233,710 		JBrowse link
G Dok7 docking protein 7 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 3 OMIM
ClinVar		 PMID:2261499 PMID:9536098 PMID:16199547 PMID:16794080 PMID:16917026 More... NCBI chrNW_004955514:2,166,263...2,190,211
Ensembl chrNW_004955514:2,166,079...2,190,128 		JBrowse link
fetal akinesia deformation sequence syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nup88 nucleoporin 88 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 4 OMIM
ClinVar		 PMID:25741868 PMID:30543681 NCBI chrNW_004955467:10,749,910...10,780,423
Ensembl chrNW_004955467:10,749,910...10,780,423 		JBrowse link
G Rabep1 rabaptin, RAB GTPase binding effector protein 1 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 4 ClinVar PMID:25741868 NCBI chrNW_004955467:10,613,671...10,748,122
Ensembl chrNW_004955467:10,613,861...10,747,255 		JBrowse link
Fetal Growth Retardation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb1 ATP binding cassette subfamily B member 1 ISO mRNA:increased expression:placenta RGD PMID:16225763 RGD:2306659 NCBI chrNW_004955432:4,911,774...5,085,349 JBrowse link
G Acta2 actin alpha 2, smooth muscle ISO CTD Direct Evidence: marker/mechanism CTD PMID:28157488 NCBI chrNW_004955425:4,023,001...4,039,980
Ensembl chrNW_004955425:4,026,430...4,040,747 		JBrowse link
G Adipoq adiponectin, C1Q and collagen domain containing treatment ISO RGD PMID:23533720 RGD:8695947 NCBI chrNW_004955420:20,911,181...20,922,992
Ensembl chrNW_004955420:20,912,348...20,914,402 		JBrowse link
G Adipor1 adiponectin receptor 1 treatment ISO RGD PMID:23533720 RGD:8695947 NCBI chrNW_004955406:38,939,167...38,955,647
Ensembl chrNW_004955406:38,936,588...38,955,352 		JBrowse link
G Adipor2 adiponectin receptor 2 treatment ISO RGD PMID:23533720 RGD:8695947 NCBI chrNW_004955454:4,243,898...4,327,255
Ensembl chrNW_004955454:4,243,898...4,327,308 		JBrowse link
G Agt angiotensinogen ISO mRNA,protein:increased expression:kidney,urine:
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:17537837 PMID:20530295 PMID:26270574 RGD:11538508 RGD:13432363 NCBI chrNW_004955492:7,863,662...7,874,863
Ensembl chrNW_004955492:7,866,833...7,873,357 		JBrowse link
G Agtr1 angiotensin II receptor type 1 ISO RGD PMID:21303825 RGD:5129179 NCBI chrNW_004955474:8,733,942...8,781,305
Ensembl chrNW_004955474:8,733,942...8,781,255 		JBrowse link
G Agtr2 angiotensin II receptor type 2 ISO RGD PMID:21303825 RGD:5129179 NCBI chrNW_004955534:3,653,112...3,654,248
Ensembl chrNW_004955534:3,653,157...3,654,248 		JBrowse link
G Aldh18a1 aldehyde dehydrogenase 18 family member A1 ISO DNA:mutations:cds:c.412C>T(p.R138W), 413G>A(p.R138L)(human) RGD PMID:26320891 RGD:13434923 NCBI chrNW_004955507:1,892,087...1,946,526
Ensembl chrNW_004955507:1,892,061...1,946,703 		JBrowse link
G Anapc2 anaphase promoting complex subunit 2 ISO protein:increased expression:serum (human) RGD PMID:25724728 RGD:14696679 NCBI chrNW_004955513:5,183,472...5,194,253
Ensembl chrNW_004955513:5,183,472...5,194,253 		JBrowse link
G Apoe apolipoprotein E ISO mRNA:increased expression:adrenal gland (rat) RGD PMID:19923365 RGD:4891147 NCBI chrNW_004955555:1,998,170...2,002,003
Ensembl chrNW_004955555:1,999,711...2,001,888 		JBrowse link
G Apoh apolipoprotein H ISO RGD PMID:24642748 RGD:10054118 NCBI chrNW_004955478:5,612,258...5,626,061
Ensembl chrNW_004955478:5,610,164...5,626,020 		JBrowse link
G Arg1 arginase 1 ISO RNA:increased expression:thoracic aorta: RGD PMID:29741931 RGD:13792602 NCBI chrNW_004955436:12,235,767...12,247,817
Ensembl chrNW_004955436:12,235,767...12,251,972 		JBrowse link
G Atp5f1a ATP synthase F1 subunit alpha ISO protein:increased expression:retroperitoneal fat pad (rat) RGD PMID:26633942 RGD:13703049 NCBI chrNW_004955402:31,652,226...31,662,114
Ensembl chrNW_004955402:31,651,960...31,662,762 		JBrowse link
G Atp5f1b ATP synthase F1 subunit beta ISO protein:decreased expression:liver (rat) RGD PMID:26342040 RGD:13782135 NCBI chrNW_004955458:4,188,167...4,195,575
Ensembl chrNW_004955458:4,186,461...4,195,494 		JBrowse link
G Bax BCL2 associated X, apoptosis regulator treatment ISO RGD PMID:22932950 RGD:10054114 NCBI chrNW_004955559:1,695,960...1,700,246
Ensembl chrNW_004955559:1,695,960...1,700,244 		JBrowse link
G Bcl2 BCL2 apoptosis regulator treatment ISO RGD PMID:22932950 RGD:10054114 NCBI chrNW_004955402:46,911,125...47,084,214
Ensembl chrNW_004955402:46,916,266...47,084,485 		JBrowse link
G Bmp4 bone morphogenetic protein 4 ISO RGD PMID:22710965 RGD:9068402 NCBI chrNW_004955409:9,432,835...9,439,680
Ensembl chrNW_004955409:9,432,841...9,440,303 		JBrowse link
G Cacna1c calcium voltage-gated channel subunit alpha1 C ISO protein:decreased expression:pancreas (rat) RGD PMID:20873977 RGD:152985538 NCBI chrNW_004955454:4,573,647...5,199,046
Ensembl chrNW_004955454:4,490,923...5,198,506 		JBrowse link
G Cacna1d calcium voltage-gated channel subunit alpha1 D ISO protein:decreased expression:pancreas (rat) RGD PMID:20873977 RGD:152985538 NCBI chrNW_004955430:3,450,151...3,796,983
Ensembl chrNW_004955430:3,268,953...3,794,592 		JBrowse link
G Cad carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase ISO RGD PMID:3973436 RGD:2303532 NCBI chrNW_004955469:9,203,433...9,227,526
Ensembl chrNW_004955469:9,203,434...9,227,865 		JBrowse link
G Casp3 caspase 3 treatment ISO RGD PMID:22932950 RGD:10054114 NCBI chrNW_004955403:24,315,712...24,326,271 JBrowse link
G Col2a1 collagen type II alpha 1 chain ISO mRNA:decreased expression:distal epiphyseal plate of femur (rat) RGD PMID:22995397 RGD:8661261 NCBI chrNW_004955500:6,860,771...6,885,466
Ensembl chrNW_004955500:6,860,771...6,885,473 		JBrowse link
G Comt catechol-O-methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:23667712 NCBI chrNW_004955442:18,130,282...18,152,153
Ensembl chrNW_004955442:18,130,987...18,137,412 		JBrowse link
G Cps1 carbamoyl-phosphate synthase 1 ISO RGD PMID:3973436 RGD:2303532 NCBI chrNW_004955457:4,848,116...4,961,384
Ensembl chrNW_004955457:4,844,152...4,961,246 		JBrowse link
G Cth cystathionine gamma-lyase ISO CTD Direct Evidence: marker/mechanism CTD PMID:28157488 NCBI chrNW_004955423:21,542,587...21,567,935
Ensembl chrNW_004955423:21,542,179...21,567,786 		JBrowse link
G Ddx23 DEAD-box helicase 23 ISO ClinVar Annotator: match by term: Intrauterine growth retardation ClinVar PMID:25741868 PMID:34050707 NCBI chrNW_004955500:7,685,954...7,698,880
Ensembl chrNW_004955500:7,685,954...7,695,765 		JBrowse link
G Des desmin ISO CTD Direct Evidence: marker/mechanism CTD PMID:28157488 NCBI chrNW_004955453:14,039,502...14,046,572
Ensembl chrNW_004955453:14,039,502...14,047,246 		JBrowse link
G Dlk1 delta like non-canonical Notch ligand 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27776119 NCBI chrNW_004955627:37,886...43,730
Ensembl chrNW_004955627:38,128...43,728 		JBrowse link
G Dnmt1 DNA methyltransferase 1 ISO mRNA,protein:decreased expression:hippocampus:
mRNA:increased expression:adrenal gland:
mRNA:decreased expression:kidney:		 RGD PMID:12869365 PMID:16380407 PMID:24717552 RGD:9588242 RGD:9588619 RGD:9590296 NCBI chrNW_004955495:1,465,529...1,505,379
Ensembl chrNW_004955495:1,465,480...1,505,462 		JBrowse link
G Dnmt3b DNA methyltransferase 3 beta ISO mRNA:increased expression:adrenal gland: RGD PMID:24717552 RGD:9590296 NCBI chrNW_004955422:28,380,595...28,427,012
Ensembl chrNW_004955422:28,380,591...28,421,301 		JBrowse link
G Dusp1 dual specificity phosphatase 1 ISO RGD PMID:12487923 RGD:7771581 NCBI chrNW_004955408:25,481,294...25,484,381
Ensembl chrNW_004955408:25,481,294...25,484,381 		JBrowse link
G Dusp5 dual specificity phosphatase 5 ISO RGD PMID:16940436 RGD:2317872 NCBI chrNW_004955485:914,250...927,640
Ensembl chrNW_004955485:915,353...927,460 		JBrowse link
G Dync2h1 dynein cytoplasmic 2 heavy chain 1 ISO ClinVar Annotator: match by term: Intrauterine growth restriction ClinVar PMID:19442771 PMID:23339108 PMID:23456818 PMID:25741868 PMID:28492532 More... NCBI chrNW_004955412:6,267,726...6,518,888
Ensembl chrNW_004955412:6,268,214...6,518,468 		JBrowse link
G Elk1 ETS transcription factor ELK1 ISO mRNA:decreased expression:placenta RGD PMID:20008130 RGD:7488901 NCBI chrNW_004955516:431,081...444,871
Ensembl chrNW_004955516:430,775...444,871 		JBrowse link
G Esrrg estrogen related receptor gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:35220427 NCBI chrNW_004955406:1,260,240...1,784,652
Ensembl chrNW_004955406:1,560,485...1,788,250 		JBrowse link
G Fas Fas cell surface death receptor susceptibility ISO associated with Pre-Eclampsia;DNA:SNP:promoter:-670A>G (human)
associated with protein:increased expression:serum:		 RGD PMID:15695771 PMID:16169656 RGD:12903973 RGD:12904025 NCBI chrNW_004955425:3,961,671...3,987,513
Ensembl chrNW_004955425:3,961,013...3,987,455 		JBrowse link
G Faslg Fas ligand severity ISO protein:increased expression:amniotic fluid:
associated with protein:increased expression:serum:		 RGD PMID:16169656 PMID:23582102 RGD:12903972 RGD:12904025 NCBI chrNW_004955406:13,098,479...13,107,045
Ensembl chrNW_004955406:13,098,662...13,107,389 		JBrowse link
G Fto FTO alpha-ketoglutarate dependent dioxygenase ISO mRNA:decreased expression:placenta
mRNA:decreased expression:chorionic villus 		RGD PMID:25054679 RGD:329955538 NCBI chrNW_004955433:11,424,069...11,834,955
Ensembl chrNW_004955433:11,424,176...11,813,771 		JBrowse link
G G6pc1 glucose-6-phosphatase catalytic subunit 1 ISO mRNA, protein:decreased expression:liver (rat)
mRNA:increased expression:liver		 RGD PMID:15448092 PMID:23744881 RGD:14695550 RGD:2315963 NCBI chrNW_004955451:16,672,512...16,680,001
Ensembl chrNW_004955451:16,672,979...16,680,001 		JBrowse link
G Ghrl ghrelin and obestatin prepropeptide disease_progression ISO RGD PMID:20637157 RGD:12904883 NCBI chrNW_004955561:1,676,475...1,682,205
Ensembl chrNW_004955561:1,676,576...1,681,812 		JBrowse link
G Ghsr growth hormone secretagogue receptor disease_progression ISO RGD PMID:20637157 RGD:12904883 NCBI chrNW_004955420:2,483,173...2,486,414
Ensembl chrNW_004955420:2,478,877...2,487,215 		JBrowse link
G Glud1 glutamate dehydrogenase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19500843 NCBI chrNW_004955510:5,987,811...6,021,001 JBrowse link
G Gria1 glutamate ionotropic receptor AMPA type subunit 1 ISO protein:decreased expression:cerebral cortical neuron (rat) RGD PMID:20398734 RGD:4107070 NCBI chrNW_004955408:7,912,223...8,226,241
Ensembl chrNW_004955408:7,912,592...8,223,570 		JBrowse link
G Grin2a glutamate ionotropic receptor NMDA type subunit 2A ISO protein:decreased expression:cerebral cortical neuron (rat) RGD PMID:20398734 RGD:4107070 NCBI chrNW_004955442:8,171,114...8,565,187
Ensembl chrNW_004955442:8,174,232...8,562,059 		JBrowse link
G Grin2b glutamate ionotropic receptor NMDA type subunit 2B treatment ISO RGD PMID:20423831 RGD:13210763 NCBI chrNW_004955413:10,358,931...10,780,004
Ensembl chrNW_004955413:10,376,597...10,779,145 		JBrowse link
G Hadha hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha ISO mRNA:decreased expression RGD PMID:11124150 RGD:1599884 NCBI chrNW_004955469:8,183,945...8,233,869
Ensembl chrNW_004955469:8,183,945...8,233,869 		JBrowse link
G Hdac1 histone deacetylase 1 ISO mRNA:increased expression:adrenal gland:
protein:decreased expression, decreased activity:hippocampus:		 RGD PMID:16380407 PMID:18464933 PMID:24717552 RGD:2311214 RGD:9588242 RGD:9590296 NCBI chrNW_004955452:10,636,366...10,668,873
Ensembl chrNW_004955452:10,636,366...10,670,864 		JBrowse link
G Hdac2 histone deacetylase 2 ISO mRNA:increased expression:adrenal gland: RGD PMID:24717552 RGD:9590296 NCBI chrNW_004955526:2,739,099...2,759,640
Ensembl chrNW_004955526:2,728,377...2,759,707 		JBrowse link
G Hnf4a hepatocyte nuclear factor 4 alpha ISO DNA:altered methylation:prompter: RGD PMID:20126273 RGD:12904699 NCBI chrNW_004955445:12,925,248...12,962,501
Ensembl chrNW_004955445:12,924,662...12,984,281 		JBrowse link
G Hsd11b2 hydroxysteroid 11-beta dehydrogenase 2 ISO associated with Placental Insufficiency;mRNA, protein:decreased expression:kidney RGD PMID:17272666 RGD:2308941 NCBI chrNW_004955484:9,206,681...9,212,356
Ensembl chrNW_004955484:9,206,681...9,212,356 		JBrowse link
G Igf1 insulin like growth factor 1 treatment
onset		 ISO human protein in a rat model
protein:decreased expression:placenta labyrinth (rat)
mRNA:decreased expression:liver		 RGD PMID:9284279 PMID:15506645 PMID:19088829 PMID:24239160 RGD:12904720 RGD:12910460 RGD:1600258 RGD:2306715 NCBI chrNW_004955405:37,505,830...37,582,152
Ensembl chrNW_004955405:37,512,201...37,582,152 		JBrowse link
G Igf1r insulin like growth factor 1 receptor onset ISO protein:decreased expression:placenta labyrinth (rat)
protein:increased expression:liver, lung (rat)
CTD Direct Evidence: marker/mechanism
DNA:point mutation:exon:p.R108Q, p.K115N (human)		 RGD
CTD		 PMID:12536576 PMID:14657428 PMID:24239160 RGD:12904720 RGD:12904724 RGD:1624299 NCBI chrNW_004955416:26,101,090...26,382,660
Ensembl chrNW_004955416:26,102,628...26,382,666 		JBrowse link
G Igf2 insulin like growth factor 2 ISO mRNA:altered expresssion:liver,placenta:
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:1408464 PMID:12087403 PMID:16040806 RGD:14985247 NCBI chrNW_004955422:13,880,525...13,907,963
Ensembl chrNW_004955422:13,880,471...13,888,566 		JBrowse link
G Igf2r insulin like growth factor 2 receptor ISO mRNA:increased expresssion:fetus: RGD PMID:1408464 RGD:14985247 NCBI chrNW_004955439:20,754,915...20,874,759
Ensembl chrNW_004955439:20,752,855...20,851,281 		JBrowse link
G Igfbp3 insulin like growth factor binding protein 3 treatment ISO protein:increased expression:Amniotic fluid:
protein:increased expression:brain
mRNA:increased expression:placenta:
DNA:hypermethylation:promoter:
protein:decreased expression:serum:		 RGD PMID:15506645 PMID:16923367 PMID:19217707 PMID:19591553 PMID:21823995 More... RGD:10402581 RGD:12743583 RGD:12743585 RGD:12743590 RGD:12743599 RGD:1600258 NCBI chrNW_004955456:6,795,560...6,802,147
Ensembl chrNW_004955456:6,795,604...6,800,845 		JBrowse link
G Il1a interleukin 1 alpha ISO mRNA:increased expression:placenta RGD PMID:11005132 RGD:2311066 NCBI chrNW_004955470:1,527,710...1,538,418
Ensembl chrNW_004955470:1,527,674...1,538,466 		JBrowse link
G Irs1 insulin receptor substrate 1 ISO mRNA,protein:decreased expression:growth plate: RGD PMID:22995397 RGD:8661261 NCBI chrNW_004955453:7,685,715...7,742,262
Ensembl chrNW_004955453:7,685,715...7,742,262 		JBrowse link
G Irs2 insulin receptor substrate 2 ISO RGD PMID:20720385 RGD:7257699 NCBI chrNW_004955404:2,531,484...2,555,383
Ensembl chrNW_004955404:2,531,484...2,555,689 		JBrowse link
G Lep leptin ISO RGD PMID:21353474 RGD:5128507 NCBI chrNW_004955479:9,266,604...9,276,568
Ensembl chrNW_004955479:9,274,516...9,279,472 		JBrowse link
G LOC102010850 cytochrome P450 1A1 ISO mRNA:increased expression:placenta RGD PMID:16225763 PMID:17706398 PMID:18442069 RGD:11576311 RGD:11576317 RGD:2306659 NCBI chrNW_004955450:3,183,958...3,189,488
Ensembl chrNW_004955450:3,183,750...3,189,488 		JBrowse link
G LOC102014960 cholesterol side-chain cleavage enzyme, mitochondrial ISO mRNA:increased expression:adrenal gland, maternal (rat) RGD PMID:17881205 RGD:4832477 NCBI chrNW_004955450:3,433,310...3,484,462
Ensembl chrNW_004955450:3,474,491...3,484,232 		JBrowse link
G Mdm2 MDM2 proto-oncogene ISO mRNA:decreased expression:cerebrum (rat) RGD PMID:15563574 RGD:2317395 NCBI chrNW_004955458:15,264,028...15,287,290
Ensembl chrNW_004955458:15,263,739...15,286,808 		JBrowse link
G Mecp2 methyl-CpG binding protein 2 ISO mRNA,protein:decreased expression:hippocampus: RGD PMID:16380407 RGD:9588242 NCBI chrNW_004955580:674,014...737,586
Ensembl chrNW_004955580:679,109...735,288 		JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO DNA:SNP:promoter:-1306C>T (human)
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:17367869 PMID:28157488 RGD:13204803 NCBI chrNW_004955433:13,024,844...13,050,041
Ensembl chrNW_004955433:13,024,418...13,052,775 		JBrowse link
G Mthfd1 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 susceptibility ISO DNA:SNP: :401A>G(human)
DNA:SNP:cds:1958G>A(human)		 RGD PMID:18771981 PMID:22378735 PMID:25118499 RGD:12910955 RGD:12910958 RGD:12914148 NCBI chrNW_004955466:5,422,141...5,485,773
Ensembl chrNW_004955466:5,420,702...5,485,773 		JBrowse link
G Muc1 mucin 1, cell surface associated ISO RGD PMID:19287349 RGD:7349369 NCBI chrNW_004955545:1,657,728...1,662,112 JBrowse link
G Muc2 mucin 2, oligomeric mucus/gel-forming ISO RGD PMID:19287349 RGD:7349369 NCBI chrNW_004955476:11,108,826...11,135,697
Ensembl chrNW_004955476:11,108,826...11,135,697 		JBrowse link
G Muc4 mucin 4, cell surface associated ISO RGD PMID:19287349 RGD:7349369 NCBI chrNW_004955420:12,228,801...12,274,840 JBrowse link
G Nfe2l2 NFE2 like bZIP transcription factor 2 treatment ISO protein:decreased expression:placenta RGD PMID:23910525 PMID:25171874 RGD:10412716 RGD:26884462 NCBI chrNW_004955403:19,510,122...19,536,428
Ensembl chrNW_004955403:19,532,103...19,535,944 		JBrowse link
G Nos1 nitric oxide synthase 1 ISO associated with hyperinsulinemia; protein:decreased expression:placenta RGD PMID:19709742 RGD:5132592 NCBI chrNW_004955455:13,797,557...13,978,402
Ensembl chrNW_004955455:13,797,545...13,972,566 		JBrowse link
G Nos2 nitric oxide synthase 2 ISO associated with hyperinsulinemia; protein:increased expression:placenta RGD PMID:19709742 RGD:5132592 NCBI chrNW_004955481:5,197,957...5,232,406
Ensembl chrNW_004955481:5,201,234...5,231,961 		JBrowse link
G Nos3 nitric oxide synthase 3 ISO associated with hyperinsulinemia; protein:decreased expression:placenta
CTD Direct Evidence: marker/mechanism
RNA, protein:increased expression:thoracic aorta:		 RGD
CTD		 PMID:19709742 PMID:22421449 PMID:23667712 PMID:29741931 RGD:13792602 RGD:5132592 NCBI chrNW_004955491:5,438,228...5,457,308
Ensembl chrNW_004955491:5,438,010...5,460,814 		JBrowse link
G Nr3c1 nuclear receptor subfamily 3 group C member 1 ISO associated with Placental Insufficiency;mRNA, protein:decreased expression:kidney RGD PMID:17272666 PMID:20388836 RGD:2308941 RGD:4892120 NCBI chrNW_004955415:10,494,704...10,585,778
Ensembl chrNW_004955415:10,494,640...10,586,221 		JBrowse link
G Orc1 origin recognition complex subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21358633 NCBI chrNW_004955464:6,761,046...6,787,144
Ensembl chrNW_004955464:6,764,992...6,787,066 		JBrowse link
G Otc ornithine transcarbamylase ISO mRNA:altered expression:liver (rat) RGD PMID:8929856 RGD:4144077 NCBI chrNW_004955601:481,524...543,176
Ensembl chrNW_004955601:481,480...543,176 		JBrowse link
G Pck1 phosphoenolpyruvate carboxykinase 1 ISO mRNA:decreased expression:liver: RGD PMID:12538794 RGD:10448276 NCBI chrNW_004955445:1,909,012...1,914,032
Ensembl chrNW_004955445:1,908,946...1,915,002 		JBrowse link
G Pdgfa platelet derived growth factor subunit A ISO mRNA:increased expression:placenta RGD PMID:11005132 RGD:2311066 NCBI chrNW_004955460:8,328,400...8,346,755
Ensembl chrNW_004955460:8,326,891...8,346,550 		JBrowse link
G Pdgfb platelet derived growth factor subunit B ISO mRNA:increased expression:placenta RGD PMID:11005132 RGD:2311066 NCBI chrNW_004955413:25,150,702...25,166,987
Ensembl chrNW_004955413:25,148,062...25,166,987 		JBrowse link
G Pdx1 pancreatic and duodenal homeobox 1 ISO mRNA:decreased expression:pancreatic islet
mRNA:decreased expression:pancreas (rat)		 RGD PMID:12606515 PMID:18464933 RGD:2311214 RGD:2311220 NCBI chrNW_004955497:7,281,886...7,307,969 JBrowse link
G Pparg peroxisome proliferator activated receptor gamma ISO mRNA:decreased expression:lung (rat) RGD PMID:21425435 RGD:8552971 NCBI chrNW_004955429:14,814,690...14,936,869
Ensembl chrNW_004955429:14,873,908...14,937,387 		JBrowse link
G Ppargc1a PPARG coactivator 1 alpha ISO mRNA, protein:increased expression:liver (rat) RGD PMID:18433551 RGD:10059649 NCBI chrNW_004955480:543,397...1,188,376
Ensembl chrNW_004955480:1,078,322...1,188,435 		JBrowse link
G Prdx6 peroxiredoxin 6 ISO protein:decreased expression:placenta RGD PMID:25171874 RGD:26884462 NCBI chrNW_004955406:13,717,267...13,728,216
Ensembl chrNW_004955406:13,717,267...13,728,216 		JBrowse link
G Ptger3 prostaglandin E receptor 3 ISO mRNA, protein:increased expression:placenta (rat) RGD PMID:15990166 RGD:10043194 NCBI chrNW_004955423:21,096,926...21,164,435 JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO associated with Placental Insufficiency;mRNA, protein:decreased expression:kidney RGD PMID:17272666 RGD:2308941 NCBI chrNW_004955406:25,077,988...25,086,259
Ensembl chrNW_004955406:25,079,945...25,086,171 		JBrowse link
G Ptpn11 protein tyrosine phosphatase non-receptor type 11 treatment ISO with postnatal growth restriction RGD PMID:19491300 RGD:12743586 NCBI chrNW_004955482:8,934,734...9,031,230
Ensembl chrNW_004955482:8,934,306...9,035,203 		JBrowse link
G Rbp1 retinol binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28157488 NCBI chrNW_004955508:6,046,738...6,072,202
Ensembl chrNW_004955508:6,046,316...6,072,288 		JBrowse link
G Ren renin ISO CTD Direct Evidence: marker/mechanism CTD PMID:17537837 NCBI chrNW_004955406:40,016,624...40,026,286
Ensembl chrNW_004955406:40,016,630...40,026,286 		JBrowse link
G Samd9 sterile alpha motif domain containing 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27182967 NCBI chrNW_004955432:9,957,521...9,972,622
Ensembl chrNW_004955432:9,957,677...9,962,389 		JBrowse link
G Serpine1 serpin family E member 1 ISO associated with Pre-Eclampsia;protein:increased expression:plasma,placenta: RGD PMID:8018914 RGD:13208595 NCBI chrNW_004955456:16,147,523...16,157,040
Ensembl chrNW_004955456:16,145,944...16,157,142 		JBrowse link
G Sin3a SIN3 transcription regulator family member A ISO RGD PMID:18464933 RGD:2311214 NCBI chrNW_004955450:2,804,551...2,870,450
Ensembl chrNW_004955450:2,808,130...2,870,450 		JBrowse link
G Slc2a1 solute carrier family 2 member 1 ISO protein:increased expression:placenta
mRNA, protein:increased expression:liver		 RGD PMID:9886959 PMID:11738800 RGD:12879480 RGD:730192 NCBI chrNW_004955537:2,408,042...2,438,788
Ensembl chrNW_004955537:2,408,042...2,439,511 		JBrowse link
G Slc2a2 solute carrier family 2 member 2 ISO mRNA, protein:decreased expression:liver RGD PMID:9886959 RGD:12879480 NCBI chrNW_004955420:1,101,769...1,129,672
Ensembl chrNW_004955420:1,101,769...1,129,715 		JBrowse link
G Slc38a2 solute carrier family 38 member 2 ISO mRNA, protein:decreased expression:placenta RGD PMID:21812961 RGD:9999212 NCBI chrNW_004955500:5,517,323...5,530,055
Ensembl chrNW_004955500:5,516,039...5,531,758 		JBrowse link
G Sod1 superoxide dismutase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21893188 NCBI chrNW_004955407:31,261,451...31,267,657
Ensembl chrNW_004955407:31,263,863...31,267,727 		JBrowse link
G Srebf1 sterol regulatory element binding transcription factor 1 ISO RGD PMID:19017816 RGD:2308805 NCBI chrNW_004955577:171,425...183,669
Ensembl chrNW_004955577:171,425...186,046 		JBrowse link
G Star steroidogenic acute regulatory protein ISO mRNA:increased expression:adrenal gland, maternal (rat) RGD PMID:17881205 RGD:4832477 NCBI chrNW_004955463:13,760,089...13,765,245
Ensembl chrNW_004955463:13,760,089...13,765,244 		JBrowse link
G Tff3 trefoil factor 3 ISO RGD PMID:19287349 RGD:7349369 NCBI chrNW_004955407:39,398,534...39,401,085
Ensembl chrNW_004955407:39,398,074...39,401,248 		JBrowse link
G Unc13a unc-13 homolog A ISO RGD PMID:18787382 RGD:5686390 NCBI chrNW_004955524:725,353...769,745 JBrowse link
G Vdr vitamin D receptor ISO mRNA,protein:decreased expression:placenta: RGD PMID:25716068 RGD:11058690 NCBI chrNW_004955500:6,745,725...6,798,052
Ensembl chrNW_004955500:6,745,678...6,798,048 		JBrowse link
Filippi syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ckap2l cytoskeleton associated protein 2 like ISO ClinVar Annotator: match by term: Filippi syndrome OMIM
ClinVar		 PMID:8867657 PMID:15365457 PMID:18553552 PMID:25439729 PMID:25741868 More... NCBI chrNW_004955470:1,552,279...1,581,261
Ensembl chrNW_004955470:1,552,128...1,581,980 		JBrowse link
Floating-Harbor syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Srcap Snf2 related CREBBP activator protein ISO ClinVar Annotator: match by term: Floating-Harbor syndrome | ClinVar Annotator: match by term: SRCAP-related condition OMIM
ClinVar		 PMID:9536098 PMID:11522779 PMID:11746027 PMID:17576681 PMID:18414213 More... NCBI chrNW_004955493:7,554,724...7,602,560
Ensembl chrNW_004955493:7,559,723...7,602,535 		JBrowse link
GAPO syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Antxr1 ANTXR cell adhesion molecule 1 susceptibility ISO ClinVar Annotator: match by term: GAPO syndrome ClinVar
OMIM		 PMID:9180938 PMID:9298746 PMID:23602711 PMID:24033266 PMID:25045128 More... NCBI chrNW_004955424:15,820,734...16,034,278
Ensembl chrNW_004955424:15,824,435...16,033,946 		JBrowse link
geleophysic dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adamtsl2 ADAMTS like 2 ISO ClinVar Annotator: match by term: Geleophysic dysplasia ClinVar NCBI chrNW_004955513:2,849,310...2,879,130
Ensembl chrNW_004955513:2,849,271...2,879,848 		JBrowse link
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: Geleophysic dysplasia ClinVar PMID:7738200 PMID:7870075 PMID:8281141 PMID:8430317 PMID:8563763 More... NCBI chrNW_004955409:5,281,603...5,502,547
Ensembl chrNW_004955409:5,281,603...5,504,761 		JBrowse link
geleophysic dysplasia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adamtsl2 ADAMTS like 2 ISO ClinVar Annotator: match by term: ADAMTSL2-related condition | ClinVar Annotator: match by term: Geleophysic dysplasia 1 OMIM
ClinVar		 PMID:18677313 PMID:20301776 PMID:21415077 PMID:24014090 PMID:25741868 More... NCBI chrNW_004955513:2,849,310...2,879,130
Ensembl chrNW_004955513:2,849,271...2,879,848 		JBrowse link
geleophysic dysplasia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: Geleophysic dysplasia 2 OMIM
ClinVar		 PMID:627879 PMID:948948 PMID:1852206 PMID:2005308 PMID:2254511 More... NCBI chrNW_004955409:5,281,603...5,502,547
Ensembl chrNW_004955409:5,281,603...5,504,761 		JBrowse link
geleophysic dysplasia 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ltbp3 latent transforming growth factor beta binding protein 3 ISO ClinVar Annotator: match by term: Geleophysic dysplasia 3 OMIM
ClinVar		 PMID:25741868 PMID:27068007 PMID:28492532 PMID:30887145 PMID:33082559 NCBI chrNW_004955422:19,714,161...19,730,344
Ensembl chrNW_004955422:19,714,627...19,729,855 		JBrowse link
glycogen storage disease IXA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adgrg2 adhesion G protein-coupled receptor G2 ISO ClinVar Annotator: match by term: Glycogen storage disease IXa1 ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chrNW_004955586:359,573...477,277
Ensembl chrNW_004955586:359,567...479,325 		JBrowse link
G Bclaf3 BCLAF1 and THRAP3 family member 3 ISO ClinVar Annotator: match by term: Glycogen storage disease IXa1 ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chrNW_004955509:383,083...435,163
Ensembl chrNW_004955509:381,959...417,347 		JBrowse link
G Bend2 BEN domain containing 2 ISO ClinVar Annotator: match by term: Glycogen storage disease IXa1 ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chrNW_004955519:104,726...155,418 JBrowse link
G Cdkl5 cyclin dependent kinase like 5 ISO ClinVar Annotator: match by term: Glycogen storage disease IXa1 ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chrNW_004955586:791,886...997,713
Ensembl chrNW_004955586:809,386...997,485 		JBrowse link
G Eif1ax eukaryotic translation initiation factor 1A X-linked ISO ClinVar Annotator: match by term: Glycogen storage disease IXa1 ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chrNW_004955509:577,975...594,028
Ensembl chrNW_004955509:577,975...594,028 		JBrowse link
G Map3k15 mitogen-activated protein kinase kinase kinase 15 ISO ClinVar Annotator: match by term: Glycogen storage disease IXa1 ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chrNW_004955586:5,856...99,662
Ensembl chrNW_004955586:5,345...99,534 		JBrowse link
G Map7d2 MAP7 domain containing 2 ISO ClinVar Annotator: match by term: Glycogen storage disease IXa1 ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chrNW_004955509:447,053...568,590
Ensembl chrNW_004955509:450,486...494,290 		JBrowse link
G Nhs NHS actin remodeling regulator ISO ClinVar Annotator: match by term: Glycogen storage disease IXa1 ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chrNW_004955519:596,216...919,352
Ensembl chrNW_004955519:599,682...918,762 		JBrowse link
G Pdha1 pyruvate dehydrogenase E1 subunit alpha 1 ISO ClinVar Annotator: match by term: Glycogen storage disease IXa1 ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chrNW_004955586:98,492...114,927
Ensembl chrNW_004955586:97,172...114,928 		JBrowse link
G Phka2 phosphorylase kinase regulatory subunit alpha 2 ISO ClinVar Annotator: match by term: Glycogen storage disease IXa1 | ClinVar Annotator: match by term: Glycogen storage disease IXa2 | ClinVar Annotator: match by term: LIVER GLYCOGENOSIS, X-LINKED, TYPE I OMIM
ClinVar		 PMID:2303074 PMID:5306139 PMID:7711737 PMID:7847371 PMID:7959740 More... NCBI chrNW_004955586:482,353...549,512
Ensembl chrNW_004955586:482,353...552,616 		JBrowse link
G Ppef1 protein phosphatase with EF-hand domain 1 ISO ClinVar Annotator: match by term: Glycogen storage disease IXa1 ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chrNW_004955586:597,620...761,433
Ensembl chrNW_004955586:597,164...760,136 		JBrowse link
G Rai2 retinoic acid induced 2 ISO ClinVar Annotator: match by term: Glycogen storage disease IXa1 ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chrNW_004955519:494,463...553,839
Ensembl chrNW_004955519:494,463...553,839 		JBrowse link
G Rps6ka3 ribosomal protein S6 kinase A3 ISO ClinVar Annotator: match by term: Glycogen storage disease IXa1 ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chrNW_004955509:600,415...701,833
Ensembl chrNW_004955509:600,284...701,837 		JBrowse link
G Scml1 Scm polycomb group protein like 1 ISO ClinVar Annotator: match by term: Glycogen storage disease IXa1 ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chrNW_004955519:578,343...591,299 JBrowse link
G Scml2 Scm polycomb group protein like 2 ISO ClinVar Annotator: match by term: Glycogen storage disease IXa1 ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chrNW_004955519:16,839...84,226
Ensembl chrNW_004955519:3,696...84,237 		JBrowse link
G Sh3kbp1 SH3 domain containing kinase binding protein 1 ISO ClinVar Annotator: match by term: Glycogen storage disease IXa1 ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chrNW_004955509:6,157...344,930
Ensembl chrNW_004955509:4,960...345,012 		JBrowse link
glycogen storage disease IXB term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc12 ATP binding cassette subfamily C member 12 ISO ClinVar Annotator: match by term: Glycogen storage disease IXb ClinVar PMID:28492532 NCBI chrNW_004955474:7,166,148...7,238,013
Ensembl chrNW_004955474:7,166,150...7,238,033 		JBrowse link
G CUNH16orf87 chromosome unknown C16orf87 homolog ISO ClinVar Annotator: match by term: Glycogen storage disease IXb ClinVar PMID:28492532 NCBI chrNW_004955448:333,903...366,598 JBrowse link
G Dnaja2 DnaJ heat shock protein family (Hsp40) member A2 ISO ClinVar Annotator: match by term: Glycogen storage disease IXb ClinVar PMID:28492532 NCBI chrNW_004955474:8,180,995...8,202,169
Ensembl chrNW_004955474:8,180,995...8,202,267 		JBrowse link
G Gpt2 glutamic--pyruvic transaminase 2 ISO ClinVar Annotator: match by term: Glycogen storage disease IXb ClinVar PMID:28492532 NCBI chrNW_004955474:8,248,622...8,285,449
Ensembl chrNW_004955474:8,250,759...8,285,227 		JBrowse link
G Itfg1 integrin alpha FG-GAP repeat containing 1 ISO ClinVar Annotator: match by term: Glycogen storage disease IXb ClinVar PMID:28492532 NCBI chrNW_004955474:7,800,984...8,020,891
Ensembl chrNW_004955474:7,801,203...8,020,961 		JBrowse link
G Mylk3 myosin light chain kinase 3 ISO ClinVar Annotator: match by term: Glycogen storage disease IXb ClinVar PMID:28492532 NCBI chrNW_004955448:254,280...287,451
Ensembl chrNW_004955448:255,119...287,712 		JBrowse link
G Neto2 neuropilin and tolloid like 2 ISO ClinVar Annotator: match by term: Glycogen storage disease IXb ClinVar PMID:28492532 NCBI chrNW_004955474:8,035,874...8,106,397
Ensembl chrNW_004955474:8,035,874...8,106,397 		JBrowse link
G Orc6 origin recognition complex subunit 6 ISO ClinVar Annotator: match by term: Glycogen storage disease IXb ClinVar PMID:28492532 NCBI chrNW_004955448:240,518...248,379
Ensembl chrNW_004955448:240,697...247,986 		JBrowse link
G Phkb phosphorylase kinase regulatory subunit beta ISO ClinVar Annotator: match by term: Glycogen storage disease IXb | ClinVar Annotator: match by term: PHOSPHORYLASE KINASE DEFICIENCY OF LIVER AND MUSCLE, AUTOSOMAL RECESSIVE OMIM
ClinVar		 PMID:9215682 PMID:9326319 PMID:9402963 PMID:9536098 PMID:12825073 More... NCBI chrNW_004955474:7,599,657...7,801,083
Ensembl chrNW_004955474:7,598,463...7,801,083 		JBrowse link
G Vps35 VPS35 retromer complex component ISO ClinVar Annotator: match by term: Glycogen storage disease IXb ClinVar PMID:28492532 NCBI chrNW_004955448:207,582...240,264
Ensembl chrNW_004955448:204,991...240,160 		JBrowse link
glycogen storage disease IXC term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Phkg2 phosphorylase kinase catalytic subunit gamma 2 ISO ClinVar Annotator: match by term: GSD IXc | ClinVar Annotator: match by term: Glycogen storage disease IXc | ClinVar Annotator: match by term: Glycogen storage disease type IXc OMIM
ClinVar		 PMID:2558039 PMID:6962066 PMID:7562285 PMID:8896567 PMID:9384616 More... NCBI chrNW_004955493:7,612,251...7,622,486
Ensembl chrNW_004955493:7,612,251...7,622,486 		JBrowse link
glycogen storage disease IXD term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Phka1 phosphorylase kinase regulatory subunit alpha 1 ISO ClinVar Annotator: match by term: Glycogen storage disease IXd | ClinVar Annotator: match by term: PHKA1-related condition OMIM
ClinVar		 PMID:2252364 PMID:7874115 PMID:8145916 PMID:9536098 PMID:9731190 More... NCBI chrNW_004955475:12,020,278...12,172,427
Ensembl chrNW_004955475:12,020,629...12,172,443 		JBrowse link
G Phka2 phosphorylase kinase regulatory subunit alpha 2 ISO ClinVar Annotator: match by term: Glycogen storage disease IXd ClinVar PMID:10330341 PMID:12862311 PMID:23578772 PMID:25741868 PMID:27103379 More... NCBI chrNW_004955586:482,353...549,512
Ensembl chrNW_004955586:482,353...552,616 		JBrowse link
GRACILE syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC102007967 mitochondrial chaperone BCS1 ISO ClinVar Annotator: match by term: GRACILE syndrome OMIM
ClinVar		 PMID:9545407 PMID:11528392 PMID:12215968 PMID:12547234 PMID:12910490 More... NCBI chrNW_004955453:14,762,237...14,766,693
Ensembl chrNW_004955453:14,762,237...14,766,383 		JBrowse link
Growth Mental Deficiency Syndrome of Myhre term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ltbp3 latent transforming growth factor beta binding protein 3 ISO ClinVar Annotator: match by term: Heritable Thoracic Aortic Disease ClinVar PMID:25741868 PMID:29625025 NCBI chrNW_004955422:19,714,161...19,730,344
Ensembl chrNW_004955422:19,714,627...19,729,855 		JBrowse link
G Smad4 SMAD family member 4 ISO ClinVar Annotator: match by term: Growth mental deficiency syndrome of Myhre | ClinVar Annotator: match by term: Heritable thoracic aortic disease without juvenile polyposis and hereditary hemorrhagic telangiectasia | ClinVar Annotator: match by term: LAPS SYNDROME | ClinVar Annotator: match by term: LARYNGOTRACHEAL STENOSIS, ARTHROPATHY, PROGNATHISM, AND SHORT STATURE | ClinVar Annotator: match by term: Myhre syndrome
ClinVar Annotator: match by term: Growth mental deficiency syndrome of Myhre | ClinVar Annotator: match by term: Heritable thoracic aortic disease without juvenile polyposis and hereditary hemorrhagic telangiectasia | ClinVar Annotator: match by term: LAPS SYNDROME | ClinVar Annotator: match by term: Myhre syndrome		 OMIM
ClinVar		 PMID:7296942 PMID:8898652 PMID:9582123 PMID:9679244 PMID:9811934 More... NCBI chrNW_004955402:35,956,080...36,001,746
Ensembl chrNW_004955402:35,961,165...35,994,538 		JBrowse link
GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zpr1 ZPR1 zinc finger ISO ClinVar Annotator: match by term: Growth restriction, hypoplastic kidneys, alopecia, and distinctive facies OMIM
ClinVar		 PMID:29851065 NCBI chrNW_004955412:18,117,957...18,127,552
Ensembl chrNW_004955412:18,116,531...18,127,552 		JBrowse link
GROWTH RETARDATION, INTELLECTUAL DEVELOPMENTAL DISORDER, HYPOTONIA, AND HEPATOPATHY term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Iars1 isoleucyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy | ClinVar Annotator: match by term: IARS1-related condition OMIM
ClinVar		 PMID:24706940 PMID:25741868 PMID:27426735 PMID:27891590 PMID:28492532 NCBI chrNW_004955515:5,506,064...5,558,075
Ensembl chrNW_004955515:5,498,231...5,557,629 		JBrowse link
Heme Oxygenase 1 Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hmox1 heme oxygenase 1 susceptibility ISO ClinVar Annotator: match by term: HMOX1-related condition | ClinVar Annotator: match by term: Heme oxygenase 1 deficiency ClinVar
OMIM		 PMID:9884342 PMID:16199547 PMID:21088618 PMID:22023467 PMID:25741868 More... NCBI chrNW_004955405:43,124,447...43,128,873
Ensembl chrNW_004955405:43,124,510...43,130,979 		JBrowse link
hereditary spastic paraplegia 9A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldh18a1 aldehyde dehydrogenase 18 family member A1 ISO ClinVar Annotator: match by term: Bilateral cataracts, gastroesophageal reflux, and spastic paraparesis with amyotrophy | ClinVar Annotator: match by term: Cataracts, motor neuronopathy, short stature and skeletal abnormalities | ClinVar Annotator: match by term: Hereditary spastic paraplegia 9A | ClinVar Annotator: match by term: SPASTIC PARAPARESIS WITH AMYOTROPHY, CATARACTS, AND GASTROESOPHAGEAL REFLUX OMIM
ClinVar		 PMID:8779323 PMID:9643297 PMID:9973297 PMID:21739576 PMID:24913064 More... NCBI chrNW_004955507:1,892,087...1,946,526
Ensembl chrNW_004955507:1,892,061...1,946,703 		JBrowse link
Heyn-Sproul-Jackson Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnmt3a DNA methyltransferase 3 alpha ISO ClinVar Annotator: match by term: Heyn-Sproul-Jackson syndrome OMIM
ClinVar		 PMID:11836534 PMID:15456878 PMID:25741868 PMID:26912663 PMID:28492532 More... NCBI chrNW_004955469:7,264,431...7,367,059
Ensembl chrNW_004955469:7,269,952...7,367,059 		JBrowse link
Hoyeraal Hreidarsson Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dclre1b DNA cross-link repair 1B ISO ClinVar Annotator: match by term: Hoyeraal-Hreidarsson syndrome ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:35007328 NCBI chrNW_004955435:17,173,975...17,179,986 JBrowse link
G Dkc1 dyskerin pseudouridine synthase 1 ISO ClinVar Annotator: match by term: Hoyeraal-Hreidarsson syndrome ClinVar PMID:7607282 PMID:10583221 PMID:12437656 PMID:19734544 PMID:20301779 More... NCBI chrNW_004955594:846,997...857,255
Ensembl chrNW_004955594:847,815...856,510 		JBrowse link
G Rtel1 regulator of telomere elongation helicase 1 ISO DNA:nonsense mutation, missense mutation:cds:c.C2920T:p.R974X, c.G1476T:p.M492I (human) RGD PMID:23959892 RGD:152977765 NCBI chrNW_004955528:531,680...578,003
Ensembl chrNW_004955528:532,385...572,398 		JBrowse link
G Tert telomerase reverse transcriptase ISO ClinVar Annotator: match by term: Growth retardation prenatal with progressive pancytopenia and cerebellar hypoplasia ClinVar PMID:20502709 PMID:25741868 PMID:28492532 PMID:34890115 NCBI chrNW_004955504:649,248...669,796
Ensembl chrNW_004955504:651,779...670,589 		JBrowse link
hypoparathyroidism-retardation-dysmorphism syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B3galnt2 beta-1,3-N-acetylgalactosaminyltransferase 2 ISO ClinVar Annotator: match by term: Hypoparathyroidism, congenital, associated with dysmorphism, growth retardation and developmental delay | ClinVar Annotator: match by term: Hypoparathyroidism-retardation-dysmorphism syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955492:4,472,585...4,502,704
Ensembl chrNW_004955492:4,472,587...4,501,531 		JBrowse link
G Tbce tubulin folding cofactor E ISO ClinVar Annotator: match by term: Hypoparathyroidism, congenital, associated with dysmorphism, growth retardation and developmental delay | ClinVar Annotator: match by term: Hypoparathyroidism-retardation-dysmorphism syndrome OMIM
ClinVar		 PMID:9536098 PMID:12389028 PMID:12389029 PMID:16199547 PMID:16938882 More... NCBI chrNW_004955492:4,502,705...4,573,126
Ensembl chrNW_004955492:4,502,897...4,558,697 		JBrowse link
IGF1R-RELATED DISORDER term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Igf1r insulin like growth factor 1 receptor ISO ClinVar Annotator: match by term: IGF-I RESISTANCE | ClinVar Annotator: match by term: IGF1R-Related Disorder | ClinVar Annotator: match by term: IGF1R-related condition | ClinVar Annotator: match by term: Insulin-like growth factor 1 resistance to | ClinVar Annotator: match by term: Somatomedin end-organ insensitivity to | ClinVar Annotator: match by term: Somatomedin-c resistance to OMIM
ClinVar		 PMID:14657428 PMID:15799978 PMID:15928254 PMID:16569742 PMID:16894147 More... NCBI chrNW_004955416:26,101,090...26,382,660
Ensembl chrNW_004955416:26,102,628...26,382,666 		JBrowse link
IMAGe syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdkn1c cyclin dependent kinase inhibitor 1C ISO ClinVar Annotator: match by term: IMAGe syndrome | ClinVar Annotator: match by term: Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies OMIM
ClinVar		 PMID:9536098 PMID:15769992 PMID:17576681 PMID:22634751 PMID:24065356 More... NCBI chrNW_004955422:14,576,971...14,578,868 JBrowse link
IMAGEI Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pole DNA polymerase epsilon, catalytic subunit ISO ClinVar Annotator: match by term: IMAGEI SYNDROME | ClinVar Annotator: match by term: Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency ClinVar
OMIM		 PMID:9536098 PMID:14760276 PMID:16835919 PMID:17576681 PMID:20091185 More... NCBI chrNW_004955482:373,467...418,000
Ensembl chrNW_004955482:373,555...417,266 		JBrowse link
Insulin-Like Growth Factor I Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Igf1 insulin like growth factor 1 ISO ClinVar Annotator: match by term: Growth retardation with sensorineural deafness and mental retardation | ClinVar Annotator: match by term: Insulin-like growth factor I deficiency OMIM
ClinVar		 PMID:8857020 PMID:15769976 PMID:18317720 PMID:19240240 PMID:21915365 More... NCBI chrNW_004955405:37,505,830...37,582,152
Ensembl chrNW_004955405:37,512,201...37,582,152 		JBrowse link
INTELLECTUAL DEVELOPMENTAL DISORDER WITH POOR GROWTH AND WITH OR WITHOUT SEIZURES OR ATAXIA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca2 ATP binding cassette subfamily A member 2 ISO ClinVar Annotator: match by term: ABCA2-related condition | ClinVar Annotator: match by term: Intellectual developmental disorder with poor growth and with or without seizures or ataxia OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:30237576 NCBI chrNW_004955513:5,035,879...5,051,140
Ensembl chrNW_004955513:5,033,771...5,051,200 		JBrowse link
Johanson-Blizzard syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ubr1 ubiquitin protein ligase E3 component n-recognin 1 ISO ClinVar Annotator: match by term: Johanson-Blizzard syndrome | ClinVar Annotator: match by term: Nasal alar hypoplasia, hypothyroidism, pancreatic achylia and congenital deafness OMIM
ClinVar		 PMID:16311597 PMID:18553553 PMID:19006206 PMID:23778732 PMID:24033266 More... NCBI chrNW_004955416:9,571,628...9,731,551
Ensembl chrNW_004955416:9,572,171...9,731,453 		JBrowse link
Langer Mesomelic Dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Shox SHOX homeobox ISO ClinVar Annotator: match by term: Langer mesomelic dysplasia syndrome OMIM
ClinVar		 PMID:9590292 PMID:9590293 PMID:11889214 PMID:12116254 PMID:17935511 More... NCBI chrNW_004955499:716,476...725,455
Ensembl chrNW_004955499:716,362...729,008 		JBrowse link
Larsen-like syndrome B3GAT3 type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B3gat3 beta-1,3-glucuronyltransferase 3 ISO ClinVar Annotator: match by term: Larsen-like syndrome, B3GAT3 type | ClinVar Annotator: match by term: MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITHOUT CONGENITAL HEART DEFECTS | ClinVar Annotator: match by term: Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:20335603 PMID:21763480 More... NCBI chrNW_004955599:573,982...578,032
Ensembl chrNW_004955599:573,426...578,032 		JBrowse link
G B4galt7 beta-1,4-galactosyltransferase 7 ISO ClinVar Annotator: match by term: Larsen-like syndrome, B3GAT3 type ClinVar PMID:1221956 PMID:1640425 PMID:15211654 PMID:18158310 PMID:20691685 More... NCBI chrNW_004955408:29,837,982...29,847,891
Ensembl chrNW_004955408:29,838,075...29,849,357 		JBrowse link
G Bscl2 BSCL2 lipid droplet biogenesis associated, seipin ISO ClinVar Annotator: match by term: Larsen-like syndrome, B3GAT3 type ClinVar PMID:28492532 NCBI chrNW_004955599:505,725...514,225
Ensembl chrNW_004955599:507,501...514,151 		JBrowse link
G Chst3 carbohydrate sulfotransferase 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004955437:19,563,645...19,605,747
Ensembl chrNW_004955437:19,563,088...19,569,889 		JBrowse link
G Col11a2 collagen type XI alpha 2 chain ISO ClinVar Annotator: match by term: Larsen-like syndrome, B3GAT3 type ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955437:1,739,426...1,767,087
Ensembl chrNW_004955437:1,740,402...1,766,490 		JBrowse link
G Cskmt citrate synthase lysine methyltransferase ISO ClinVar Annotator: match by term: Larsen-like syndrome, B3GAT3 type ClinVar PMID:28492532 NCBI chrNW_004955599:545,490...546,972
Ensembl chrNW_004955599:545,452...546,632 		JBrowse link
G Ganab glucosidase II alpha subunit ISO ClinVar Annotator: match by term: Larsen-like syndrome, B3GAT3 type ClinVar PMID:28492532 NCBI chrNW_004955599:556,510...569,891
Ensembl chrNW_004955599:556,362...573,353 		JBrowse link
G Ints5 integrator complex subunit 5 ISO ClinVar Annotator: match by term: Larsen-like syndrome, B3GAT3 type ClinVar PMID:28492532 NCBI chrNW_004955599:551,989...556,341
Ensembl chrNW_004955599:551,078...556,341 		JBrowse link
G LOC102013363 ubiquinol-cytochrome-c reductase complex assembly factor 3 ISO ClinVar Annotator: match by term: Larsen-like syndrome, B3GAT3 type ClinVar PMID:28492532 NCBI chrNW_004955599:540,598...541,643
Ensembl chrNW_004955599:526,609...541,643 		JBrowse link
G Lrrn4cl LRRN4 C-terminal like ISO ClinVar Annotator: match by term: Larsen-like syndrome, B3GAT3 type ClinVar PMID:28492532 NCBI chrNW_004955599:514,328...516,684
Ensembl chrNW_004955599:504,370...517,989 		JBrowse link
G Rom1 retinal outer segment membrane protein 1 ISO ClinVar Annotator: match by term: Larsen-like syndrome, B3GAT3 type ClinVar PMID:20335603 PMID:28492532 NCBI chrNW_004955599:578,165...580,055
Ensembl chrNW_004955599:573,426...579,812 		JBrowse link
G Ubxn1 UBX domain protein 1 ISO ClinVar Annotator: match by term: Larsen-like syndrome, B3GAT3 type ClinVar PMID:28492532 NCBI chrNW_004955599:526,792...529,825
Ensembl chrNW_004955599:526,966...529,735 		JBrowse link
Leri-Weill dyschondrosteosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Shox SHOX homeobox ISO ClinVar Annotator: match by term: Leri-Weill dyschondrosteosis OMIM
ClinVar		 PMID:9140395 PMID:9590292 PMID:9590293 PMID:11030412 PMID:11403039 More... NCBI chrNW_004955499:716,476...725,455
Ensembl chrNW_004955499:716,362...729,008 		JBrowse link
G Shox2 SHOX homeobox 2 ISO OMIM:127300 MouseDO NCBI chrNW_004955448:8,937,656...8,947,890
Ensembl chrNW_004955448:8,937,610...8,947,890 		JBrowse link
Lowry Wood Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clasp1 cytoplasmic linker associated protein 1 ISO ClinVar Annotator: match by term: Epiphyseal dysplasia, microcephaly and nystagmus | ClinVar Annotator: match by term: Lowry-Wood syndrome ClinVar PMID:10189087 PMID:12605445 PMID:19288552 PMID:21474760 PMID:21474761 More... NCBI chrNW_004955459:8,382,671...8,628,048
Ensembl chrNW_004955459:8,408,160...8,629,344 		JBrowse link
Meier-Gorlin syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bmp5 bone morphogenetic protein 5 ISO OMIM:224690 | OMIM:613800 | OMIM:613803 | OMIM:613804 | OMIM:613805 MouseDO NCBI chrNW_004955411:450,674...557,213
Ensembl chrNW_004955411:450,674...558,650 		JBrowse link
G Cdc45 cell division cycle 45 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004955442:18,513,398...18,548,317
Ensembl chrNW_004955442:18,514,731...18,547,805 		JBrowse link
G Cdc6 cell division cycle 6 ISO ClinVar Annotator: match by term: Meier-Gorlin syndrome ClinVar PMID:28492532 NCBI chrNW_004955451:14,857,174...14,871,324
Ensembl chrNW_004955451:14,860,309...14,871,494 		JBrowse link
G Cdt1 chromatin licensing and DNA replication factor 1 ISO ClinVar Annotator: match by term: Meier-Gorlin syndrome ClinVar PMID:11992493 PMID:21358632 PMID:22333897 PMID:23023959 PMID:24033266 More... NCBI chrNW_004955541:2,683,030...2,687,883
Ensembl chrNW_004955541:2,683,408...2,687,102 		JBrowse link
G Donson DNA replication fork stabilization factor DONSON ISO ClinVar Annotator: match by term: Meier-Gorlin syndrome ClinVar PMID:25741868 PMID:28492532 PMID:31784481 NCBI chrNW_004955407:33,007,257...33,014,600
Ensembl chrNW_004955407:33,007,257...33,015,039 		JBrowse link
G Gmnn geminin DNA replication inhibitor ISO ClinVar Annotator: match by term: Meier-Gorlin syndrome ClinVar PMID:11477602 PMID:14973488 PMID:26637980 NCBI chrNW_004955483:2,283,518...2,344,982
Ensembl chrNW_004955483:2,282,485...2,293,924 		JBrowse link
G Mcm3 minichromosome maintenance complex component 3 ISO ClinVar Annotator: match by term: Meier-Gorlin syndrome ClinVar PMID:25741868 PMID:33654309 NCBI chrNW_004955411:5,800,800...5,832,713
Ensembl chrNW_004955411:5,814,041...5,832,796 		JBrowse link
G Mcm7 minichromosome maintenance complex component 7 ISO ClinVar Annotator: match by term: Meier-Gorlin syndrome ClinVar PMID:25741868 PMID:33654309 NCBI chrNW_004955573:763,358...770,782
Ensembl chrNW_004955573:763,358...775,489 		JBrowse link
G Orc1 origin recognition complex subunit 1 ISO ClinVar Annotator: match by term: Meier-Gorlin syndrome ClinVar PMID:819054 PMID:11477602 PMID:14564153 PMID:21358631 PMID:21358632 More... NCBI chrNW_004955464:6,761,046...6,787,144
Ensembl chrNW_004955464:6,764,992...6,787,066 		JBrowse link
G Orc4 origin recognition complex subunit 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21358631 PMID:21358632 NCBI chrNW_004955440:13,933,896...14,006,808
Ensembl chrNW_004955440:13,932,495...14,006,806 		JBrowse link
G Orc6 origin recognition complex subunit 6 ISO ClinVar Annotator: match by term: Meier-Gorlin syndrome ClinVar PMID:25741868 NCBI chrNW_004955448:240,518...248,379
Ensembl chrNW_004955448:240,697...247,986 		JBrowse link
G Vps35 VPS35 retromer complex component ISO ClinVar Annotator: match by term: Meier-Gorlin syndrome ClinVar PMID:25741868 NCBI chrNW_004955448:207,582...240,264
Ensembl chrNW_004955448:204,991...240,160 		JBrowse link
Meier-Gorlin syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Donson DNA replication fork stabilization factor DONSON ISO ClinVar Annotator: match by term: Meier-Gorlin syndrome 1 ClinVar PMID:25741868 NCBI chrNW_004955407:33,007,257...33,014,600
Ensembl chrNW_004955407:33,007,257...33,015,039 		JBrowse link
G Orc1 origin recognition complex subunit 1 ISO ClinVar Annotator: match by term: Meier-Gorlin syndrome 1 | ClinVar Annotator: match by term: ORC1-related condition OMIM
ClinVar		 PMID:819054 PMID:11477602 PMID:14564153 PMID:18414213 PMID:21358631 More... NCBI chrNW_004955464:6,761,046...6,787,144
Ensembl chrNW_004955464:6,764,992...6,787,066 		JBrowse link
Meier-Gorlin syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Orc4 origin recognition complex subunit 4 ISO ClinVar Annotator: match by term: Meier-Gorlin syndrome 2 OMIM
ClinVar		 PMID:11477602 PMID:18414213 PMID:21358631 PMID:21358632 PMID:22333897 More... NCBI chrNW_004955440:13,933,896...14,006,808
Ensembl chrNW_004955440:13,932,495...14,006,806 		JBrowse link
Meier-Gorlin syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Orc6 origin recognition complex subunit 6 ISO ClinVar Annotator: match by term: Meier-Gorlin syndrome 3 OMIM
ClinVar		 PMID:7710253 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 More... NCBI chrNW_004955448:240,518...248,379
Ensembl chrNW_004955448:240,697...247,986 		JBrowse link
G Vps35 VPS35 retromer complex component ISO ClinVar Annotator: match by term: Meier-Gorlin syndrome 3 ClinVar PMID:25741868 NCBI chrNW_004955448:207,582...240,264
Ensembl chrNW_004955448:204,991...240,160 		JBrowse link
Meier-Gorlin syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdt1 chromatin licensing and DNA replication factor 1 ISO ClinVar Annotator: match by term: Meier-Gorlin syndrome 4 OMIM
ClinVar		 PMID:11477602 PMID:11992493 PMID:16199547 PMID:18414213 PMID:21358631 More... NCBI chrNW_004955541:2,683,030...2,687,883
Ensembl chrNW_004955541:2,683,408...2,687,102 		JBrowse link
Meier-Gorlin syndrome 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdc6 cell division cycle 6 ISO ClinVar Annotator: match by term: Meier-Gorlin syndrome 5 OMIM
ClinVar		 PMID:11477602 PMID:18414213 PMID:21358632 PMID:25741868 PMID:28492532 NCBI chrNW_004955451:14,857,174...14,871,324
Ensembl chrNW_004955451:14,860,309...14,871,494 		JBrowse link
Meier-Gorlin syndrome 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gmnn geminin DNA replication inhibitor ISO ClinVar Annotator: match by term: Meier-Gorlin syndrome 6 OMIM
ClinVar		 PMID:11477602 PMID:14973488 PMID:25741868 PMID:26637980 NCBI chrNW_004955483:2,283,518...2,344,982
Ensembl chrNW_004955483:2,282,485...2,293,924 		JBrowse link
Meier-Gorlin syndrome 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdc45 cell division cycle 45 ISO ClinVar Annotator: match by term: Meier-Gorlin syndrome 7 OMIM
ClinVar		 PMID:25741868 PMID:27374770 PMID:28492532 PMID:29036220 PMID:30986546 NCBI chrNW_004955442:18,513,398...18,548,317
Ensembl chrNW_004955442:18,514,731...18,547,805 		JBrowse link
Meier-Gorlin syndrome 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mcm5 minichromosome maintenance complex component 5 ISO ClinVar Annotator: match by term: Meier-Gorlin syndrome 8 OMIM
ClinVar		 PMID:25741868 PMID:28198391 PMID:28492532 NCBI chrNW_004955405:43,132,815...43,145,699
Ensembl chrNW_004955405:43,132,204...43,145,699 		JBrowse link
Microcephalic Osteodysplastic Primordial Dwarfism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pcnt pericentrin ISO ClinVar Annotator: match by term: Microcephalic osteodysplastic primordial dwarfism ClinVar PMID:18414213 PMID:25741868 PMID:28492532 NCBI chrNW_004955407:42,735,078...42,835,851
Ensembl chrNW_004955407:42,735,188...42,835,465 		JBrowse link
microcephalic osteodysplastic primordial dwarfism type I term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clasp1 cytoplasmic linker associated protein 1 ISO ClinVar Annotator: match by term: Low-birth-weight dwarfism with skeletal dysplasia | ClinVar Annotator: match by term: Microcephalic Osteodysplastic Primordial Dwarfism, Type I | ClinVar Annotator: match by term: Osteodysplastic primordial dwarfism, type 1 ClinVar PMID:10189087 PMID:12409455 PMID:12605445 PMID:21474760 PMID:21474761 More... NCBI chrNW_004955459:8,382,671...8,628,048
Ensembl chrNW_004955459:8,408,160...8,629,344 		JBrowse link
microcephalic osteodysplastic primordial dwarfism type II term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pcnt pericentrin ISO ClinVar Annotator: match by term: Microcephalic osteodysplastic primordial dwarfism type II | ClinVar Annotator: match by term: PCNT-related condition OMIM
ClinVar		 PMID:9536098 PMID:12210304 PMID:15372530 PMID:16199547 PMID:17576681 More... NCBI chrNW_004955407:42,735,078...42,835,851
Ensembl chrNW_004955407:42,735,188...42,835,465 		JBrowse link
microcephaly, growth deficiency, seizures, and brain malformations term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wdr4 WD repeat domain 4 ISO ClinVar Annotator: match by term: Microcephaly, growth deficiency, seizures, and brain malformations | ClinVar Annotator: match by term: WDR4-related condition OMIM
ClinVar		 PMID:25741868 PMID:26416026 PMID:28492532 NCBI chrNW_004955407:39,044,328...39,066,277
Ensembl chrNW_004955407:39,044,328...39,066,277 		JBrowse link
Microcephaly, Growth Restriction, and Increased Sister Chromatid Exchange 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Top3a DNA topoisomerase III alpha ISO ClinVar Annotator: match by term: Microcephaly, growth restriction, and increased sister chromatid exchange 2 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:30057030 NCBI chrNW_004955478:11,015,378...11,045,717
Ensembl chrNW_004955478:11,015,378...11,045,717 		JBrowse link
Microcephaly, Short Stature, and Impaired Glucose Metabolism 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trmt10a tRNA methyltransferase 10A ISO ClinVar Annotator: match by term: Microcephaly, short stature, and impaired glucose metabolism 1 OMIM
ClinVar		 PMID:24204302 PMID:25053765 PMID:25741868 PMID:26535115 PMID:28492532 NCBI chrNW_004955496:8,021,747...8,037,562
Ensembl chrNW_004955496:8,026,569...8,037,802 		JBrowse link
Microcephaly, Short Stature, and Impaired Glucose Metabolism 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ppp1r15b protein phosphatase 1 regulatory subunit 15B ISO ClinVar Annotator: match by term: Microcephaly, short stature, and impaired glucose metabolism 2 OMIM
ClinVar		 PMID:25741868 PMID:26159176 PMID:26307080 PMID:28492532 NCBI chrNW_004955406:40,232,516...40,238,711
Ensembl chrNW_004955406:40,232,607...40,238,901 		JBrowse link
Microcephaly, Short Stature, and Polymicrogyria with or without Seizures term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rttn rotatin ISO ClinVar Annotator: match by term: MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH SEIZURES | ClinVar Annotator: match by term: Microcephaly, short stature, and polymicrogyria with or without seizures | ClinVar Annotator: match by term: RTTN-related condition OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:22939636 More... NCBI chrNW_004955402:53,600,985...53,753,218
Ensembl chrNW_004955402:53,600,985...53,753,459 		JBrowse link
Mitochondrial Myopathy with Lactic Acidosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pnpla8 patatin like phospholipase domain containing 8 ISO ClinVar Annotator: match by term: Mitochondrial myopathy with lactic acidosis OMIM
ClinVar		 PMID:19840936 PMID:25512002 PMID:25741868 PMID:28492532 PMID:29681094 More... NCBI chrNW_004955410:12,715,072...12,753,433
Ensembl chrNW_004955410:12,711,082...12,753,433 		JBrowse link
Mosaic Variegated Aneuploidy Syndrome 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slf2 SMC5-SMC6 complex localization factor 2 ISO ClinVar Annotator: match by term: Atelis syndrome 1 OMIM
ClinVar		 PMID:36333305 NCBI chrNW_004955485:9,221,419...9,269,308 JBrowse link
Mosaic Variegated Aneuploidy Syndrome 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Smc5 structural maintenance of chromosomes 5 ISO ClinVar Annotator: match by term: Atelis syndrome 2 OMIM
ClinVar		 PMID:36333305 NCBI chrNW_004955434:2,742,276...2,848,384
Ensembl chrNW_004955434:2,742,373...2,848,337 		JBrowse link
Neonatal Zinc Deficiency due to Low Breast Milk Zinc term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc30a2 solute carrier family 30 member 2 ISO ClinVar Annotator: match by term: Zinc deficiency, transient neonatal OMIM
ClinVar		 PMID:17065149 PMID:22733820 PMID:24456035 PMID:25741868 PMID:28665435 NCBI chrNW_004955452:5,507,614...5,515,669
Ensembl chrNW_004955452:5,504,022...5,516,246 		JBrowse link
Neu-Laxova syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Phgdh phosphoglycerate dehydrogenase ISO ClinVar Annotator: match by term: Neu-Laxova syndrome 1 OMIM
ClinVar		 PMID:9536098 PMID:11034457 PMID:11055895 PMID:11751922 PMID:14645240 More... NCBI chrNW_004955435:22,757,473...22,803,123
Ensembl chrNW_004955435:22,757,454...22,803,123 		JBrowse link
G Psat1 phosphoserine aminotransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004955512:1,132,452...1,155,405
Ensembl chrNW_004955512:1,132,390...1,155,412 		JBrowse link
neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ints1 integrator complex subunit 1 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies OMIM
ClinVar		 PMID:16199547 PMID:25741868 PMID:28492532 PMID:28542170 PMID:28763441 More... NCBI chrNW_004955460:9,116,650...9,149,470
Ensembl chrNW_004955460:9,116,891...9,143,120 		JBrowse link
Neurodevelopmental Disorder with Growth Retardation, Dysmorphic Facies, and Corpus Callosum Abnormalities term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fra10ac1 fragile site, folic acid type, rare, fra(10)(q23.3) or fra(10)(q24.2) candidate 1 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities OMIM
ClinVar		 PMID:25741868 PMID:34694367 PMID:35821753 PMID:35871492 NCBI chrNW_004955507:182,212...242,313 JBrowse link
neurodevelopmental disorder with poor growth and behavioral abnormalities term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp9a ATPase phospholipid transporting 9A (putative) ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with poor growth and behavioral abnormalities OMIM
ClinVar		 PMID:25741868 PMID:34379057 PMID:34764295 PMID:36604604 NCBI chrNW_004955445:6,876,937...6,991,513
Ensembl chrNW_004955445:6,876,952...6,996,028 		JBrowse link
NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH, LARGE EARS, AND DYSMORPHIC FACIES term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Znf668 zinc finger protein 668 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with poor growth, large ears, and dysmorphic facies OMIM
ClinVar		 PMID:26633546 PMID:34313816 NCBI chrNW_004955493:7,902,527...7,911,616
Ensembl chrNW_004955493:7,902,527...7,905,135 		JBrowse link
neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nrde2 NRDE-2, necessary for RNA interference, domain containing ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss ClinVar PMID:35861243 NCBI chrNW_004955438:12,726,206...12,780,364
Ensembl chrNW_004955438:12,726,357...12,780,379 		JBrowse link
G Psmc1 proteasome 26S subunit, ATPase 1 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss ClinVar
OMIM		 PMID:35861243 NCBI chrNW_004955438:12,705,328...12,721,050
Ensembl chrNW_004955438:12,704,691...12,721,050 		JBrowse link
neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dph5 diphthamide biosynthesis 5 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties OMIM
ClinVar		 PMID:25741868 PMID:35482014 NCBI chrNW_004955435:5,618,646...5,659,403
Ensembl chrNW_004955435:5,615,143...5,659,125 		JBrowse link
G Slc30a7 solute carrier family 30 member 7 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties ClinVar PMID:25741868 PMID:35482014 NCBI chrNW_004955435:5,530,591...5,609,613
Ensembl chrNW_004955435:5,530,591...5,609,613 		JBrowse link
neurodevelopmental disorder with spasticity and poor growth term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ufc1 ubiquitin-fold modifier conjugating enzyme 1 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with spasticity and poor growth OMIM
ClinVar		 PMID:25741868 PMID:25741915 PMID:27431290 PMID:29868776 NCBI chrNW_004955468:12,919,031...12,922,740
Ensembl chrNW_004955468:12,919,031...12,922,740 		JBrowse link
Nijmegen Breakage Syndrome-Like Disorder term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rad50 RAD50 double strand break repair protein ISO ClinVar Annotator: match by term: Nijmegen breakage syndrome-like disorder | ClinVar Annotator: match by term: RAD50 DEFICIENCY OMIM
ClinVar		 PMID:1887849 PMID:9536098 PMID:10892749 PMID:14684699 PMID:15855896 More... NCBI chrNW_004955408:3,953,801...4,035,494
Ensembl chrNW_004955408:3,953,800...4,035,494 		JBrowse link
Ogden syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Naa10 N-alpha-acetyltransferase 10, NatA catalytic subunit ISO ClinVar Annotator: match by term: Ogden syndrome OMIM
ClinVar		 PMID:18414213 PMID:21700266 PMID:23020937 PMID:25099252 PMID:25326635 More... NCBI chrNW_004955580:604,805...609,978
Ensembl chrNW_004955580:603,331...612,608 		JBrowse link
omodysplasia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gpc6 glypican 6 ISO ClinVar Annotator: match by term: Autosomal recessive omodysplasia | ClinVar Annotator: match by term: Omodysplasia generalized form OMIM
ClinVar		 PMID:19481194 PMID:25741868 PMID:28492532 NCBI chrNW_004955404:15,429,811...16,504,973
Ensembl chrNW_004955404:15,433,962...16,504,351 		JBrowse link
Permanent Neonatal Diabetes Mellitus, with Cerebellar Agenesis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ptf1a pancreas associated transcription factor 1a ISO ClinVar Annotator: match by term: Diabetes mellitus, permanent neonatal, with cerebellar agenesis | ClinVar Annotator: match by term: PANCREATIC AND CEREBELLAR AGENESIS OMIM
ClinVar		 PMID:10507728 PMID:15543146 PMID:18591390 PMID:20065546 PMID:21749365 More... NCBI chrNW_004955429:5,807,804...5,809,522
Ensembl chrNW_004955429:5,808,124...5,809,522 		JBrowse link
Peters plus syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B3glct beta 3-glucosyltransferase ISO ClinVar Annotator: match by term: Peters plus syndrome OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:16909395 PMID:17576681 PMID:18199743 More... NCBI chrNW_004955431:14,507,184...14,621,376
Ensembl chrNW_004955431:14,507,184...14,633,351 		JBrowse link
G Fgf8 fibroblast growth factor 8 ISO ClinVar Annotator: match by term: Peters plus syndrome ClinVar PMID:25741868 PMID:28492532 PMID:29584859 NCBI chrNW_004955485:8,517,412...8,521,732
Ensembl chrNW_004955485:8,517,412...8,521,770 		JBrowse link
Pili Torti, Developmental Delay, Neurological Abnormalities term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hephl1 hephaestin like 1 ISO ClinVar Annotator: match by term: Pili torti and developmental delay OMIM
ClinVar		 PMID:25741868 PMID:31125343 NCBI chrNW_004955414:461,212...551,323
Ensembl chrNW_004955414:461,212...551,323 		JBrowse link
PSPH deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cct6a chaperonin containing TCP1 subunit 6A ISO ClinVar Annotator: match by term: Phosphoserine phosphatase deficiency ClinVar PMID:28492532 NCBI chrNW_004955456:8,223,785...8,236,760
Ensembl chrNW_004955456:8,223,774...8,237,966 		JBrowse link
G Chchd2 coiled-coil-helix-coiled-coil-helix domain containing 2 ISO ClinVar Annotator: match by term: Phosphoserine phosphatase deficiency ClinVar PMID:28492532 NCBI chrNW_004955456:8,260,533...8,265,488
Ensembl chrNW_004955456:8,255,898...8,265,488 		JBrowse link
G Phkg1 phosphorylase kinase catalytic subunit gamma 1 ISO ClinVar Annotator: match by term: Phosphoserine phosphatase deficiency ClinVar PMID:28492532 NCBI chrNW_004955456:8,251,789...8,259,205
Ensembl chrNW_004955456:8,251,130...8,259,205 		JBrowse link
G Psph phosphoserine phosphatase ISO ClinVar Annotator: match by term: PSPH deficiency | ClinVar Annotator: match by term: Phosphoserine phosphatase deficiency OMIM
ClinVar		 PMID:9222972 PMID:9536098 PMID:14673469 PMID:16199547 PMID:17576681 More... NCBI chrNW_004955456:8,198,739...8,212,111
Ensembl chrNW_004955456:8,198,739...8,212,025 		JBrowse link
G Sumf2 sulfatase modifying factor 2 ISO ClinVar Annotator: match by term: Phosphoserine phosphatase deficiency ClinVar PMID:28492532 NCBI chrNW_004955456:8,238,301...8,251,682
Ensembl chrNW_004955456:8,238,318...8,251,366 		JBrowse link
Rajab Interstitial Lung Disease with Brain Calcifications 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Farsb phenylalanyl-tRNA synthetase subunit beta ISO ClinVar Annotator: match by term: FARSB-related condition | ClinVar Annotator: match by term: Rajab interstitial lung disease with brain calcifications 1 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:29979980 NCBI chrNW_004955453:11,176,481...11,237,243
Ensembl chrNW_004955453:11,176,432...11,240,780 		JBrowse link
Retinal Dystrophy, Juvenile Cataracts, and Short Stature Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gphn gephyrin ISO ClinVar Annotator: match by term: Retinal dystrophy, juvenile cataracts, and short stature syndrome ClinVar PMID:24916380 PMID:25741868 PMID:28492532 NCBI chrNW_004955466:3,017,474...3,526,375
Ensembl chrNW_004955466:3,016,479...3,526,231 		JBrowse link
G Rdh11 retinol dehydrogenase 11 ISO ClinVar Annotator: match by term: Retinal dystrophy, juvenile cataracts, and short stature syndrome OMIM
ClinVar		 PMID:24916380 PMID:25741868 PMID:28492532 NCBI chrNW_004955466:2,506,641...2,521,506
Ensembl chrNW_004955466:2,508,338...2,520,903 		JBrowse link
Ruijs-Aalfs syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sprtn SprT-like N-terminal domain ISO ClinVar Annotator: match by term: Progeroid features-hepatocellular carcinoma predisposition syndrome | ClinVar Annotator: match by term: Ruijs-Aalfs syndrome OMIM
ClinVar		 PMID:12503110 PMID:25261934 PMID:25741868 NCBI chrNW_004955492:7,463,228...7,476,683
Ensembl chrNW_004955492:7,464,959...7,476,458 		JBrowse link
Say Meyer Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Huwe1 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 ISO ClinVar Annotator: match by term: Trigonocephaly, short stature, and retarded psychomotor development ClinVar PMID:25741868 PMID:30797980 NCBI chrNW_004955475:550,643...671,771
Ensembl chrNW_004955475:551,159...671,747 		JBrowse link
Seckel syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cenpj centromere protein J ISO ClinVar Annotator: match by term: Seckel syndrome 4 OMIM
ClinVar		 PMID:15793586 PMID:16900296 PMID:18414213 PMID:20301772 PMID:20522431 More... NCBI chrNW_004955497:432,595...497,335
Ensembl chrNW_004955497:430,461...477,065 		JBrowse link
G Rnf17 ring finger protein 17 ISO ClinVar Annotator: match by term: Seckel syndrome 4 ClinVar PMID:18414213 PMID:20301772 PMID:20522431 PMID:24402816 PMID:25741868 More... NCBI chrNW_004955497:282,559...429,999
Ensembl chrNW_004955497:282,653...430,371 		JBrowse link
Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nhej1 non-homologous end joining factor 1 ISO ClinVar Annotator: match by term: NHEJ1 SYNDROME | ClinVar Annotator: match by term: Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation | ClinVar Annotator: match by term: Severe combined immunodeficiency with sensitivity to ionizing radiation due to NHEJ1 deficiency OMIM
ClinVar		 PMID:9536098 PMID:12604777 PMID:16199547 PMID:16439204 PMID:16439205 More... NCBI chrNW_004955453:14,278,773...14,362,167
Ensembl chrNW_004955453:14,281,069...14,363,876 		JBrowse link
SHORT STATURE AND ADVANCED BONE AGE, WITH OR WITHOUT EARLY-ONSET OSTEOARTHRITIS AND/OR OSTEOCHONDRITIS DISSECANS term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acan aggrecan ISO ClinVar Annotator: match by term: Short stature and advanced bone age | ClinVar Annotator: match by term: Short stature and advanced bone age, with early-onset osteoarthritis | ClinVar Annotator: match by term: Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans | ClinVar Annotator: match by term: Short stature-advanced bone age-early-onset osteoarthritis syndrome OMIM
ClinVar		 PMID:14216462 PMID:16080123 PMID:19110214 PMID:20137779 PMID:24762113 More... NCBI chrNW_004955416:16,125,536...16,186,046 JBrowse link
Short Stature, Amelogenesis Imperfecta, and Skeletal Dysplasia with Scoliosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc10a7 solute carrier family 10 member 7 ISO ClinVar Annotator: match by term: Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis OMIM
ClinVar		 PMID:25741868 PMID:29878199 PMID:30082715 NCBI chrNW_004955428:1,999,341...2,250,201
Ensembl chrNW_004955428:1,999,280...2,250,234 		JBrowse link
SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Znf407 zinc finger protein 407 ISO ClinVar Annotator: match by term: Short stature, impaired intellectual development, microcephaly, hypotonia, and ocular anomalies | ClinVar Annotator: match by term: ZNF407-related condition OMIM
ClinVar		 PMID:24907849 PMID:25741868 PMID:28492532 PMID:32737394 NCBI chrNW_004955402:58,036,270...58,507,506 JBrowse link
Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Poc1a POC1 centriolar protein A ISO ClinVar Annotator: match by term: SOFT SYNDROME | ClinVar Annotator: match by term: Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis OMIM
ClinVar		 PMID:18414213 PMID:22440536 PMID:22840363 PMID:22840364 PMID:25558065 More... NCBI chrNW_004955532:3,707,680...3,790,565
Ensembl chrNW_004955532:3,708,274...3,789,797 		JBrowse link
Short Stature, Optic Nerve Atrophy, and Pelger-Huet Anomaly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nbas NBAS subunit of NRZ tethering complex ISO ClinVar Annotator: match by term: NBAS-related condition | ClinVar Annotator: match by term: Short stature, optic nerve atrophy, and Pelger-Huet anomaly OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:20577004 PMID:24033266 More... NCBI chrNW_004955487:8,894,403...9,073,535
Ensembl chrNW_004955487:8,894,187...9,073,663 		JBrowse link
SHORT syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 ISO ClinVar Annotator: match by term: SHORT syndrome OMIM
ClinVar		 PMID:269880 PMID:6407320 PMID:7705412 PMID:8574420 PMID:9536098 More... NCBI chrNW_004955446:1,020,707...1,098,327
Ensembl chrNW_004955446:1,020,043...1,098,820 		JBrowse link
SHOX-related short stature term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Shox SHOX homeobox ISO ClinVar Annotator: match by term: SHOX-related short stature OMIM
ClinVar		 PMID:9140395 PMID:11735031 PMID:11891678 PMID:12362035 PMID:16227037 More... NCBI chrNW_004955499:716,476...725,455
Ensembl chrNW_004955499:716,362...729,008 		JBrowse link
Siddiqi syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fitm2 fat storage inducing transmembrane protein 2 ISO ClinVar Annotator: match by term: Siddiqi syndrome OMIM
ClinVar		 PMID:25741868 PMID:28067622 PMID:30214770 PMID:30288795 NCBI chrNW_004955445:13,027,431...13,032,089 JBrowse link
Silver-Russell Syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Igf2 insulin like growth factor 2 ISO ClinVar Annotator: match by term: IGF2-related condition | ClinVar Annotator: match by term: Silver-Russell syndrome 3 OMIM
ClinVar		 PMID:25741868 PMID:26154720 PMID:28492532 PMID:28848601 PMID:30152198 More... NCBI chrNW_004955422:13,880,525...13,907,963
Ensembl chrNW_004955422:13,880,471...13,888,566 		JBrowse link
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rspry1 ring finger and SPRY domain containing 1 ISO ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type OMIM
ClinVar		 PMID:25741868 PMID:26365341 PMID:28492532 PMID:30063090 NCBI chrNW_004955433:14,843,521...14,884,083
Ensembl chrNW_004955433:14,843,671...14,884,742 		JBrowse link
spondyloepimetaphyseal dysplasia, Pakistani type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Papss2 3'-phosphoadenosine 5'-phosphosulfate synthase 2 ISO ClinVar Annotator: match by term: BRACHYOLMIA TYPE 4 WITH MILD EPIPHYSEAL AND METAPHYSEAL CHANGES | ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia, pakistani type OMIM
ClinVar		 PMID:9536098 PMID:9714015 PMID:9771708 PMID:16199547 PMID:17576681 More... NCBI chrNW_004955425:5,186,232...5,259,080
Ensembl chrNW_004955425:5,187,952...5,258,955 		JBrowse link
spondylometaphyseal dysplasia corner fracture type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atic 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase ISO ClinVar Annotator: match by term: FN1-related condition | ClinVar Annotator: match by term: Spondylometaphyseal dysplasia - Sutcliffe type ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955457:704,213...729,702
Ensembl chrNW_004955457:704,213...730,134 		JBrowse link
G Col2a1 collagen type II alpha 1 chain ISO ClinVar Annotator: match by term: Spondylometaphyseal dysplasia - Sutcliffe type ClinVar PMID:7695699 PMID:7977371 PMID:8218237 PMID:8702139 PMID:8893763 More... NCBI chrNW_004955500:6,860,771...6,885,466
Ensembl chrNW_004955500:6,860,771...6,885,473 		JBrowse link
G Fn1 fibronectin 1 ISO ClinVar Annotator: match by term: FN1-related condition | ClinVar Annotator: match by term: Spondylometaphyseal dysplasia - Sutcliffe type OMIM
ClinVar		 PMID:1677003 PMID:15666313 PMID:25741868 PMID:28492532 PMID:29100092 More... NCBI chrNW_004955457:629,599...694,948
Ensembl chrNW_004955457:629,518...696,975 		JBrowse link
syndromic X-linked intellectual disability Cabezas type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akap14 A-kinase anchoring protein 14 ISO ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type ClinVar PMID:17236139 PMID:25385192 PMID:28492532 NCBI chrNW_004955534:120,603...137,227 JBrowse link
G Atp1b4 ATPase Na+/K+ transporting family member beta 4 ISO ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type ClinVar PMID:17236139 PMID:25385192 PMID:28492532 NCBI chrNW_004955572:1,507,290...1,524,359
Ensembl chrNW_004955572:1,507,290...1,524,422 		JBrowse link
G C1galt1c1 C1GALT1 specific chaperone 1 ISO ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type ClinVar PMID:17236139 PMID:25385192 PMID:28492532 NCBI chrNW_004955572:1,254,289...1,258,561
Ensembl chrNW_004955572:1,254,289...1,258,561 		JBrowse link
G Cul4b cullin 4B ISO ClinVar Annotator: match by term: CABEZAS SYNDROME | ClinVar Annotator: match by term: CUL4B-Related Disorder | ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type | ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED, SYNDROMIC 15 | ClinVar Annotator: match by term: Mental retardation with short stature, hypogonadism and abnormal gait, X-linked OMIM
ClinVar		 PMID:8135271 PMID:9536098 PMID:10978355 PMID:17236139 PMID:17273978 More... NCBI chrNW_004955572:1,308,491...1,365,147 JBrowse link
G Dock11 dedicator of cytokinesis 11 ISO ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type ClinVar PMID:17236139 PMID:25385192 PMID:28492532 NCBI chrNW_004955534:1,239,241...1,431,714
Ensembl chrNW_004955534:1,239,247...1,431,714 		JBrowse link
G Il13ra1 interleukin 13 receptor subunit alpha 1 ISO ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type ClinVar PMID:17236139 PMID:25385192 PMID:28492532 NCBI chrNW_004955534:1,157,758...1,205,158
Ensembl chrNW_004955534:1,160,340...1,204,911 		JBrowse link
G Kiaa1210 KIAA1210 ortholog ISO ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type ClinVar PMID:17236139 PMID:25385192 PMID:28492532 NCBI chrNW_004955534:815,636...873,969 JBrowse link
G Lamp2 lysosomal associated membrane protein 2 ISO ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type ClinVar PMID:17236139 PMID:25385192 PMID:28492532 NCBI chrNW_004955572:1,423,048...1,464,443
Ensembl chrNW_004955572:1,422,981...1,462,622 		JBrowse link
G Lonrf3 LON peptidase N-terminal domain and ring finger 3 ISO ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type ClinVar PMID:17236139 PMID:25385192 PMID:28492532 NCBI chrNW_004955534:979,399...1,016,626
Ensembl chrNW_004955534:979,399...1,016,626 		JBrowse link
G Mcts1 MCTS1 re-initiation and release factor ISO ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type ClinVar PMID:17236139 PMID:25385192 PMID:28492532 NCBI chrNW_004955572:1,272,870...1,285,190
Ensembl chrNW_004955572:1,272,870...1,285,445 		JBrowse link
G Ndufa1 NADH:ubiquinone oxidoreductase subunit A1 ISO ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type ClinVar PMID:17236139 PMID:25385192 PMID:28492532 NCBI chrNW_004955534:152,291...154,183
Ensembl chrNW_004955534:152,300...154,183 		JBrowse link
G Nkap NFKB activating protein ISO ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type ClinVar PMID:17236139 PMID:25385192 PMID:28492532 NCBI chrNW_004955534:106,122...119,508
Ensembl chrNW_004955534:106,122...119,344 		JBrowse link
G Nkrf NFKB repressing factor ISO ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type ClinVar PMID:17236139 PMID:25385192 PMID:28492532 NCBI chrNW_004955534:393,963...408,636 JBrowse link
G Pgrmc1 progesterone receptor membrane component 1 ISO ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type ClinVar PMID:17236139 PMID:25385192 PMID:28492532 NCBI chrNW_004955534:698,895...706,586
Ensembl chrNW_004955534:698,734...706,946 		JBrowse link
G Rhoxf1 Rhox homeobox family member 1 ISO ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type ClinVar PMID:17236139 PMID:25385192 PMID:28492532 NCBI chrNW_004955534:39,060...39,570 JBrowse link
G Rnf113a ring finger protein 113A ISO ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type ClinVar PMID:17236139 PMID:25385192 PMID:28492532 NCBI chrNW_004955534:154,242...155,474
Ensembl chrNW_004955534:154,380...155,417 		JBrowse link
G Rpl39 ribosomal protein L39 ISO ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type ClinVar PMID:17236139 PMID:25385192 PMID:28492532 NCBI chrNW_004955534:200,591...203,827 JBrowse link
G Septin6 septin 6 ISO ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type ClinVar PMID:17236139 PMID:25385192 PMID:28492532 NCBI chrNW_004955534:306,691...381,799
Ensembl chrNW_004955534:305,865...382,262 		JBrowse link
G Slc25a43 solute carrier family 25 member 43 ISO ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type ClinVar PMID:17236139 PMID:25385192 PMID:28492532 NCBI chrNW_004955534:513,757...548,027
Ensembl chrNW_004955534:510,898...548,047 		JBrowse link
G Slc25a5 solute carrier family 25 member 5 ISO ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type ClinVar PMID:17236139 PMID:25385192 PMID:28492532 NCBI chrNW_004955534:497,518...500,309
Ensembl chrNW_004955534:496,933...510,934 		JBrowse link
G Sowahd sosondowah ankyrin repeat domain family member D ISO ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type ClinVar PMID:17236139 PMID:25385192 PMID:28492532 NCBI chrNW_004955534:220,999...222,550 JBrowse link
G Steep1 STING1 ER exit protein 1 ISO ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type ClinVar PMID:17236139 PMID:25385192 PMID:28492532 NCBI chrNW_004955534:429,207...443,810
Ensembl chrNW_004955534:429,029...476,987 		JBrowse link
G Tmem255a transmembrane protein 255A ISO ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type ClinVar PMID:17236139 PMID:25385192 PMID:28492532 NCBI chrNW_004955572:1,574,785...1,628,770
Ensembl chrNW_004955572:1,574,739...1,628,124 		JBrowse link
G Ube2a ubiquitin conjugating enzyme E2 A ISO ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type ClinVar PMID:17236139 PMID:25385192 PMID:28492532 NCBI chrNW_004955534:411,602...485,964
Ensembl chrNW_004955534:409,947...421,888 		JBrowse link
G Upf3b UPF3B regulator of nonsense mediated mRNA decay ISO ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type ClinVar PMID:17236139 PMID:25385192 PMID:28492532 NCBI chrNW_004955534:176,553...193,033
Ensembl chrNW_004955534:176,522...193,319 		JBrowse link
G Zbtb33 zinc finger and BTB domain containing 33 ISO ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type ClinVar PMID:17236139 PMID:25385192 PMID:28492532 NCBI chrNW_004955572:1,628,263...1,636,299
Ensembl chrNW_004955572:1,628,263...1,635,828 		JBrowse link
G Zcchc12 zinc finger CCHC-type containing 12 ISO ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type ClinVar PMID:17236139 PMID:25385192 PMID:28492532 NCBI chrNW_004955534:1,131,585...1,133,382
Ensembl chrNW_004955534:1,132,104...1,133,312 		JBrowse link
syndromic X-linked intellectual disability Turner type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aff2 ALF transcription elongation factor 2 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, TURNER TYPE ClinVar PMID:25741868 NCBI chrNW_004955498:1,012,323...1,497,031
Ensembl chrNW_004955498:1,012,555...1,492,616 		JBrowse link
G Camta1 calmodulin binding transcription activator 1 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, TURNER TYPE ClinVar PMID:25741868 NCBI chrNW_004955486:5,115,469...5,890,028
Ensembl chrNW_004955486:5,116,677...5,872,167 		JBrowse link
G Huwe1 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 ISO ClinVar Annotator: match by term: HUWE1-related condition | ClinVar Annotator: match by term: HUWE1-related neurodevelopmental disorder | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, TURNER TYPE | ClinVar Annotator: match by term: Intellectual disability, X-linked syndromic, Turner type OMIM
ClinVar		 PMID:6107045 PMID:7943042 PMID:7943044 PMID:9536098 PMID:16700052 More... NCBI chrNW_004955475:550,643...671,771
Ensembl chrNW_004955475:551,159...671,747 		JBrowse link
G Ski SKI proto-oncogene ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, TURNER TYPE ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955486:8,857,693...8,921,821
Ensembl chrNW_004955486:8,857,693...8,921,821 		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 ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chrNW_004955469:9,092,074...9,097,635
Ensembl chrNW_004955469:9,092,051...9,100,652 		JBrowse link
G Adcy3 adenylate cyclase 3 ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:24614070 PMID:26866722 PMID:28492532 PMID:29900417 NCBI chrNW_004955469:6,933,208...7,026,179
Ensembl chrNW_004955469:6,929,092...7,026,758 		JBrowse link
G Adgrf3 adhesion G protein-coupled receptor F3 ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chrNW_004955469:8,280,131...8,291,512 JBrowse link
G Agbl5 AGBL carboxypeptidase 5 ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chrNW_004955469:9,023,753...9,041,674
Ensembl chrNW_004955469:9,023,534...9,044,070 		JBrowse link
G Asxl2 ASXL transcriptional regulator 2 ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:24614070 PMID:26866722 PMID:28492532 PMID:29900417 NCBI chrNW_004955469:7,786,030...7,923,739
Ensembl chrNW_004955469:7,786,154...7,923,500 		JBrowse link
G Atraid all-trans retinoic acid induced differentiation factor ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chrNW_004955469:9,194,656...9,203,292 JBrowse link
G Babam2 BRISC and BRCA1 A complex member 2 ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chrNW_004955469:9,831,488...10,246,631
Ensembl chrNW_004955469:9,831,488...10,246,899 		JBrowse link
G Cad carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chrNW_004955469:9,203,433...9,227,526
Ensembl chrNW_004955469:9,203,434...9,227,865 		JBrowse link
G Ccdc121 coiled-coil domain containing 121 ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chrNW_004955469:7,771,788...7,774,261 JBrowse link
G Cenpa centromere protein A ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chrNW_004955469:8,799,312...8,819,637
Ensembl chrNW_004955469:8,799,071...8,819,876 		JBrowse link
G Cenpo centromere protein O ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:24614070 PMID:26866722 PMID:28492532 PMID:29900417 NCBI chrNW_004955469:6,913,438...6,933,254
Ensembl chrNW_004955469:6,913,799...6,932,206 		JBrowse link
G Cgref1 cell growth regulator with EF-hand domain 1 ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chrNW_004955469:9,072,333...9,086,427
Ensembl chrNW_004955469:9,072,563...9,086,615 		JBrowse link
G Cib4 calcium and integrin binding family member 4 ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chrNW_004955469:8,604,866...8,669,890
Ensembl chrNW_004955469:8,604,799...8,669,916 		JBrowse link
G Cimip2c ciliary microtubule inner protein 2C ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chrNW_004955469:8,588,820...8,603,333
Ensembl chrNW_004955469:8,588,900...8,604,337 		JBrowse link
G Dnajc27 DnaJ heat shock protein family (Hsp40) member C27 ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:24614070 PMID:26866722 PMID:28492532 PMID:29900417 NCBI chrNW_004955469:7,046,671...7,078,666
Ensembl chrNW_004955469:7,044,804...7,078,666 		JBrowse link
G Dnajc5g DnaJ heat shock protein family (Hsp40) member C5 gamma ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chrNW_004955469:9,254,372...9,257,235
Ensembl chrNW_004955469:9,255,194...9,257,215 		JBrowse link
G Dnmt3a DNA methyltransferase 3 alpha ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome OMIM
ClinVar		 PMID:9536098 PMID:11836534 PMID:15456878 PMID:16199547 PMID:17576681 More... NCBI chrNW_004955469:7,264,431...7,367,059
Ensembl chrNW_004955469:7,269,952...7,367,059 		JBrowse link
G Dpysl5 dihydropyrimidinase like 5 ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chrNW_004955469:8,838,167...8,920,991
Ensembl chrNW_004955469:8,838,888...8,922,388 		JBrowse link
G Drc1 dynein regulatory complex subunit 1 ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chrNW_004955469:8,416,934...8,479,961
Ensembl chrNW_004955469:8,417,017...8,479,802 		JBrowse link
G Dtnb dystrobrevin beta ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:24614070 PMID:26866722 PMID:28492532 PMID:29900417 NCBI chrNW_004955469:7,402,777...7,771,767 JBrowse link
G Efr3b EFR3 homolog B ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:24614070 PMID:26866722 PMID:28492532 PMID:29900417 NCBI chrNW_004955469:7,159,087...7,215,234
Ensembl chrNW_004955469:7,159,087...7,215,627 		JBrowse link
G Eif2b4 eukaryotic translation initiation factor 2B subunit delta ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chrNW_004955469:9,328,900...9,334,463
Ensembl chrNW_004955469:9,328,943...9,334,315 		JBrowse link
G Emilin1 elastin microfibril interfacer 1 ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chrNW_004955469:9,049,666...9,057,692
Ensembl chrNW_004955469:9,049,662...9,057,684 		JBrowse link
G Fndc4 fibronectin type III domain containing 4 ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chrNW_004955469:9,456,964...9,459,721
Ensembl chrNW_004955469:9,456,236...9,459,721 		JBrowse link
G Fosl2 FOS like 2, AP-1 transcription factor subunit ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chrNW_004955469:10,297,179...10,319,180
Ensembl chrNW_004955469:10,297,179...10,319,180 		JBrowse link
G Garem2 GRB2 associated regulator of MAPK1 subtype 2 ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chrNW_004955469:8,170,914...8,182,193
Ensembl chrNW_004955469:8,171,714...8,181,052 		JBrowse link
G Gckr glucokinase regulator ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chrNW_004955469:9,461,541...9,485,034
Ensembl chrNW_004955469:9,461,848...9,484,707 		JBrowse link
G Gpn1 GPN-loop GTPase 1 ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chrNW_004955469:9,580,068...9,602,575
Ensembl chrNW_004955469:9,580,118...9,601,696 		JBrowse link
G Gtf3c2 general transcription factor IIIC subunit 2 ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chrNW_004955469:9,295,189...9,324,171
Ensembl chrNW_004955469:9,291,360...9,324,171 		JBrowse link
G Hadha hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chrNW_004955469:8,183,945...8,233,869
Ensembl chrNW_004955469:8,183,945...8,233,869 		JBrowse link
G Hadhb hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chrNW_004955469:8,233,980...8,272,149
Ensembl chrNW_004955469:8,233,980...8,274,450 		JBrowse link
G Ift172 intraflagellar transport 172 ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chrNW_004955469:9,418,599...9,455,026
Ensembl chrNW_004955469:9,418,609...9,455,026 		JBrowse link
G Itsn2 intersectin 2 ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:24614070 PMID:26866722 PMID:28492532 PMID:29900417 NCBI chrNW_004955469:6,358,131...6,493,956
Ensembl chrNW_004955469:6,358,131...6,493,956 		JBrowse link
G Kcnk3 potassium two pore domain channel subfamily K member 3 ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chrNW_004955469:8,710,749...8,744,423
Ensembl chrNW_004955469:8,709,999...8,747,467 		JBrowse link
G Khk ketohexokinase ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chrNW_004955469:9,058,095...9,071,091
Ensembl chrNW_004955469:9,058,095...9,071,091 		JBrowse link
G Kif3c kinesin family member 3C ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chrNW_004955469:7,960,224...8,001,161
Ensembl chrNW_004955469:7,958,481...8,001,738 		JBrowse link
G Krtcap3 keratinocyte associated protein 3 ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chrNW_004955469:9,416,732...9,418,523
Ensembl chrNW_004955469:9,416,732...9,418,523 		JBrowse link
G Mapre3 microtubule associated protein RP/EB family member 3 ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chrNW_004955469:8,947,324...9,005,401
Ensembl chrNW_004955469:9,000,940...9,005,454 		JBrowse link
G Mpv17 mitochondrial inner membrane protein MPV17 ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chrNW_004955469:9,279,540...9,292,012
Ensembl chrNW_004955469:9,279,540...9,291,954 		JBrowse link
G Mrpl33 mitochondrial ribosomal protein L33 ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chrNW_004955469:9,721,710...9,731,608
Ensembl chrNW_004955469:9,720,791...9,731,711 		JBrowse link
G Ncoa1 nuclear receptor coactivator 1 ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:24614070 PMID:26866722 PMID:28492532 PMID:29900417 NCBI chrNW_004955469:6,676,780...6,892,587
Ensembl chrNW_004955469:6,794,821...6,892,566 		JBrowse link
G Nrbp1 nuclear receptor binding protein 1 ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chrNW_004955469:9,396,464...9,416,569
Ensembl chrNW_004955469:9,395,807...9,416,569 		JBrowse link
G Ost4 oligosaccharyltransferase complex subunit 4, non-catalytic ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chrNW_004955469:9,041,549...9,042,949
Ensembl chrNW_004955469:9,041,549...9,042,949 		JBrowse link
G Otof otoferlin ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chrNW_004955469:8,480,099...8,569,215
Ensembl chrNW_004955469:8,481,231...8,569,265 		JBrowse link
G Plb1 phospholipase B1 ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chrNW_004955469:10,370,646...10,511,263
Ensembl chrNW_004955469:10,401,178...10,511,057 		JBrowse link
G Pomc proopiomelanocortin ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:24614070 PMID:26866722 PMID:28492532 PMID:29900417 PMID:32435502 NCBI chrNW_004955469:7,217,233...7,220,401
Ensembl chrNW_004955469:7,217,363...7,220,386 		JBrowse link
G Ppm1g protein phosphatase, Mg2+/Mn2+ dependent 1G ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chrNW_004955469:9,344,968...9,350,123
Ensembl chrNW_004955469:9,344,968...9,350,125 		JBrowse link
G Ppp1cb protein phosphatase 1 catalytic subunit beta ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chrNW_004955469:10,657,029...10,682,398
Ensembl chrNW_004955469:10,662,032...10,682,398 		JBrowse link
G Preb prolactin regulatory element binding ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chrNW_004955469:9,097,579...9,101,361
Ensembl chrNW_004955469:9,098,124...9,101,408 		JBrowse link
G Prr30 proline rich 30 ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chrNW_004955469:9,103,132...9,105,680
Ensembl chrNW_004955469:9,103,376...9,104,596 		JBrowse link
G Ptrhd1 peptidyl-tRNA hydrolase domain containing 1 ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:24614070 PMID:26866722 PMID:28492532 PMID:29900417 NCBI chrNW_004955469:6,909,627...6,913,411
Ensembl chrNW_004955469:6,907,283...6,913,411 		JBrowse link
G Rab10 RAB10, member RAS oncogene family ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chrNW_004955469:8,057,235...8,138,983
Ensembl chrNW_004955469:8,057,235...8,138,983 		JBrowse link
G Rbks ribokinase ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chrNW_004955469:9,734,551...9,831,397
Ensembl chrNW_004955469:9,734,563...9,831,127 		JBrowse link
G Selenoi selenoprotein I ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chrNW_004955469:8,369,499...8,410,628
Ensembl chrNW_004955469:8,369,479...8,408,659 		JBrowse link
G Slc30a3 solute carrier family 30 member 3 ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chrNW_004955469:9,235,159...9,254,291
Ensembl chrNW_004955469:9,235,104...9,254,964 		JBrowse link
G Slc35f6 solute carrier family 35 member F6 ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chrNW_004955469:8,774,225...8,787,549
Ensembl chrNW_004955469:8,773,989...8,787,549 		JBrowse link
G Slc4a1ap solute carrier family 4 member 1 adaptor protein ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chrNW_004955469:9,617,238...9,654,972
Ensembl chrNW_004955469:9,617,269...9,654,458 		JBrowse link
G Snx17 sorting nexin 17 ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chrNW_004955469:9,334,562...9,340,766
Ensembl chrNW_004955469:9,334,563...9,340,766 		JBrowse link
G Spata31h1 SPATA31 subfamily H member 1 ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chrNW_004955469:9,495,012...9,525,267 JBrowse link
G Supt7l SPT7 like, STAGA complex subunit gamma ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chrNW_004955469:9,584,863...9,617,194
Ensembl chrNW_004955469:9,601,767...9,617,188 		JBrowse link
G Tcf23 transcription factor 23 ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chrNW_004955469:9,123,987...9,130,728
Ensembl chrNW_004955469:9,123,987...9,127,633 		JBrowse link
G Tmem214 transmembrane protein 214 ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chrNW_004955469:9,009,398...9,017,402
Ensembl chrNW_004955469:9,009,398...9,020,839 		JBrowse link
G Trim54 tripartite motif containing 54 ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chrNW_004955469:9,258,946...9,277,275
Ensembl chrNW_004955469:9,258,946...9,277,275 		JBrowse link
G Ucn urocortin ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chrNW_004955469:9,277,637...9,278,641
Ensembl chrNW_004955469:9,277,637...9,278,641 		JBrowse link
G Znf512 zinc finger protein 512 ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chrNW_004955469:9,525,501...9,571,050
Ensembl chrNW_004955469:9,525,637...9,569,412 		JBrowse link
G Znf513 zinc finger protein 513 ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chrNW_004955469:9,340,872...9,344,593
Ensembl chrNW_004955469:9,340,878...9,344,593 		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 ISO ClinVar Annotator: match by term: Thauvin-Robinet-Faivre syndrome OMIM
ClinVar		 PMID:25741868 PMID:26660953 PMID:27183861 NCBI chrNW_004955422:19,435,528...19,440,095
Ensembl chrNW_004955422:19,435,380...19,440,095 		JBrowse link
trichohepatoenteric syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nelfe negative elongation factor complex member E ISO ClinVar Annotator: match by term: Trichohepatoenteric syndrome ClinVar NCBI chrNW_004955437:467,018...473,084
Ensembl chrNW_004955437:466,690...473,084 		JBrowse link
G Skic2 SKI2 subunit of superkiller complex ISO ClinVar Annotator: match by term: Trichohepatoenteric syndrome ClinVar PMID:16199547 PMID:22444670 PMID:25741868 PMID:27050310 PMID:28492532 More... NCBI chrNW_004955437:473,192...482,811
Ensembl chrNW_004955437:473,192...482,811 		JBrowse link
G Skic3 SKI3 subunit of superkiller complex ISO ClinVar Annotator: match by term: Trichohepatoenteric syndrome ClinVar PMID:9536098 PMID:17576681 PMID:20176027 PMID:21120949 PMID:24033266 More... NCBI chrNW_004955418:16,989,400...17,068,479
Ensembl chrNW_004955418:16,989,400...17,069,441 		JBrowse link
trichohepatoenteric syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agk acylglycerol kinase ISO ClinVar Annotator: match by term: Trichohepatoenteric syndrome 1 ClinVar PMID:22284826 PMID:23266196 PMID:24088041 PMID:25208612 PMID:25326635 More... NCBI chrNW_004955494:1,924,026...2,041,914
Ensembl chrNW_004955494:1,924,026...2,021,778 		JBrowse link
G Skic3 SKI3 subunit of superkiller complex ISO ClinVar Annotator: match by term: SKIC3-related condition | ClinVar Annotator: match by term: Trichohepatoenteric syndrome 1 OMIM
ClinVar		 PMID:16199547 PMID:20176027 PMID:21120949 PMID:23326254 PMID:25326635 More... NCBI chrNW_004955418:16,989,400...17,068,479
Ensembl chrNW_004955418:16,989,400...17,069,441 		JBrowse link
trichohepatoenteric syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Skic2 SKI2 subunit of superkiller complex ISO ClinVar Annotator: match by term: SKIC2-related condition | ClinVar Annotator: match by term: Trichohepatoenteric syndrome 2 OMIM
ClinVar		 PMID:16199547 PMID:22444670 PMID:24033266 PMID:25326635 PMID:25714577 More... NCBI chrNW_004955437:473,192...482,811
Ensembl chrNW_004955437:473,192...482,811 		JBrowse link
Tsukahara Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Znf407 zinc finger protein 407 ISO ClinVar Annotator: match by term: Radioulnar synostosis with microcephaly, short stature, scoliosis, and mental retardation ClinVar PMID:25741868 NCBI chrNW_004955402:58,036,270...58,507,506 JBrowse link
Turnpenny-Fry Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cisd3 CDGSH iron sulfur domain 3 ISO ClinVar Annotator: match by term: PCGF2-related condition | ClinVar Annotator: match by term: Turnpenny-fry syndrome ClinVar PMID:25741868 PMID:25741909 PMID:28492532 NCBI chrNW_004955451:13,814,679...13,817,334
Ensembl chrNW_004955451:13,814,135...13,817,334 		JBrowse link
G Pcgf2 polycomb group ring finger 2 ISO ClinVar Annotator: match by term: PCGF2-related condition | ClinVar Annotator: match by term: Turnpenny-fry syndrome OMIM
ClinVar		 PMID:15525528 PMID:25741868 PMID:25741869 PMID:25741894 PMID:25741909 More... NCBI chrNW_004955451:13,817,559...13,822,342
Ensembl chrNW_004955451:13,817,559...13,832,653 		JBrowse link
Verheij Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Puf60 poly(U) binding splicing factor 60 ISO ClinVar Annotator: match by term: CHROMOSOME 8q24.3 DELETION SYNDROME | ClinVar Annotator: match by term: Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome | ClinVar Annotator: match by term: Verheij syndrome OMIM
ClinVar		 PMID:18414213 PMID:24140112 PMID:25741868 PMID:27804958 PMID:28074499 More... NCBI chrNW_004955454:2,482,968...2,497,339
Ensembl chrNW_004955454:2,482,968...2,497,339 		JBrowse link
Weill-Marchesani Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: Weill-Marchesani Syndrome, Autosomal Dominant | ClinVar Annotator: match by term: Weill-Marchesani syndrome 2 OMIM
ClinVar		 PMID:627879 PMID:948948 PMID:1852208 PMID:2005308 PMID:2254511 More... NCBI chrNW_004955409:5,281,603...5,502,547
Ensembl chrNW_004955409:5,281,603...5,504,761 		JBrowse link
Wiedemann-Rautenstrauch syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col1a1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: Wiedemann-Rautenstrauch-like progeroid syndrome ClinVar PMID:16786509 PMID:28492532 PMID:29101475 PMID:30450527 NCBI chrNW_004955451:11,468,156...11,484,410
Ensembl chrNW_004955451:11,468,290...11,483,073 		JBrowse link
G Polr3a RNA polymerase III subunit A ISO ClinVar Annotator: match by term: Neonatal pseudo-hydrocephalic progeroid syndrome | ClinVar Annotator: match by term: POLR3A-related disorders | ClinVar Annotator: match by term: Wiedemann-Rautenstrauch syndrome | ClinVar Annotator: match by term: Wiedemann-Rautenstrauch-like progeroid syndrome OMIM
ClinVar		 PMID:614258 PMID:12605447 PMID:16007586 PMID:16199547 PMID:19938095 More... NCBI chrNW_004955437:14,446,059...14,483,336
Ensembl chrNW_004955437:14,446,024...14,483,336 		JBrowse link
G Pycr1 pyrroline-5-carboxylate reductase 1 ISO ClinVar Annotator: match by term: Wiedemann-Rautenstrauch-like progeroid syndrome ClinVar PMID:4076251 PMID:16199547 PMID:16233902 PMID:18348262 PMID:19648921 More... NCBI chrNW_004955506:1,231,874...1,236,550
Ensembl chrNW_004955506:1,231,863...1,236,550 		JBrowse link
Wiedemann-Steiner syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arid1b AT-rich interaction domain 1B ISO ClinVar Annotator: match by term: Wiedemann-Steiner syndrome ClinVar NCBI chrNW_004955439:5,041,111...5,454,692
Ensembl chrNW_004955439:5,043,967...5,412,741 		JBrowse link
G Chd7 chromodomain helicase DNA binding protein 7 ISO ClinVar Annotator: match by term: Wiedemann-Steiner syndrome ClinVar NCBI chrNW_004955444:17,859,999...18,067,623
Ensembl chrNW_004955444:17,858,771...18,067,248 		JBrowse link
G Kmt2a lysine methyltransferase 2A ISO ClinVar Annotator: match by term: KMT2A-related condition | ClinVar Annotator: match by term: Wiedemann-Steiner syndrome OMIM
ClinVar		 PMID:5519603 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 More... NCBI chrNW_004955412:19,586,435...19,670,149
Ensembl chrNW_004955412:19,586,141...19,665,527 		JBrowse link
G Smc1a structural maintenance of chromosomes 1A ISO ClinVar Annotator: match by term: Wiedemann-Steiner syndrome ClinVar PMID:25574841 NCBI chrNW_004955475:421,472...468,286
Ensembl chrNW_004955475:421,409...468,324 		JBrowse link
Winchester syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lpcat2 lysophosphatidylcholine acyltransferase 2 ISO ClinVar Annotator: match by term: Winchester-Grossman syndrome ClinVar NCBI chrNW_004955433:13,052,480...13,120,197
Ensembl chrNW_004955433:13,052,605...13,119,775 		JBrowse link
G Mmp14 matrix metallopeptidase 14 ISO ClinVar Annotator: match by term: Winchester syndrome OMIM
ClinVar		 PMID:4238825 PMID:17480005 PMID:22922033 PMID:25741868 PMID:29741626 NCBI chrNW_004955409:37,438,924...37,448,704
Ensembl chrNW_004955409:37,440,541...37,448,437 		JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO ClinVar Annotator: match by term: Winchester-Grossman syndrome ClinVar PMID:2625626 PMID:6525336 PMID:9536098 PMID:10356396 PMID:11431697 More... NCBI chrNW_004955433:13,024,844...13,050,041
Ensembl chrNW_004955433:13,024,418...13,052,775 		JBrowse link
Wittwer Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctbp1 C-terminal binding protein 1 ISO ClinVar Annotator: match by term: Wittwer syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955514:630,168...652,817
Ensembl chrNW_004955514:626,645...652,817 		JBrowse link
G Fgfrl1 fibroblast growth factor receptor like 1 ISO ClinVar Annotator: match by term: Wittwer syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955514:499,526...509,208
Ensembl chrNW_004955514:497,573...509,811 		JBrowse link
G Letm1 leucine zipper and EF-hand containing transmembrane protein 1 ISO ClinVar Annotator: match by term: Wittwer syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955514:1,040,103...1,069,297
Ensembl chrNW_004955514:1,042,307...1,069,114 		JBrowse link
G Nsd2 nuclear receptor binding SET domain protein 2 ISO ClinVar Annotator: match by term: Wittwer syndrome ClinVar PMID:11252005 PMID:25741868 PMID:28492532 PMID:29760529 PMID:29892088 More... NCBI chrNW_004955514:1,084,522...1,162,624
Ensembl chrNW_004955514:1,069,085...1,162,624 		JBrowse link
G Nuf2 NUF2 component of NDC80 kinetochore complex ISO ClinVar Annotator: match by term: Wittwer syndrome ClinVar NCBI chrNW_004955462:13,082,874...13,142,709
Ensembl chrNW_004955462:13,082,047...13,142,944 		JBrowse link
X-linked mental retardation-hypotonic facies syndrome-1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atrx ATRX chromatin remodeler ISO ClinVar Annotator: match by term: Carpenter-Waziri syndrome | ClinVar Annotator: match by term: HOLMES-GANG SYNDROME | ClinVar Annotator: match by term: Intellectual disability-hypotonic facies syndrome, X-linked | ClinVar Annotator: match by term: Mental retardation-hypotonic facies syndrome X-linked, 1 | ClinVar Annotator: match by term: Smith Fineman Myers syndrome 1 OMIM
ClinVar		 PMID:3239563 PMID:6682021 PMID:6711605 PMID:7697714 PMID:8630485 More... NCBI chrNW_004955557:947,368...1,252,701
Ensembl chrNW_004955557:947,167...1,252,724 		JBrowse link
G Epor erythropoietin receptor ISO ClinVar Annotator: match by term: Carpenter-Waziri syndrome ClinVar PMID:8174675 PMID:9394420 PMID:25741868 PMID:28492532 NCBI chrNW_004955495:2,293,587...2,299,302
Ensembl chrNW_004955495:2,293,540...2,298,715 		JBrowse link
G Huwe1 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 ISO ClinVar Annotator: match by term: Carpenter-Waziri syndrome ClinVar PMID:25741868 NCBI chrNW_004955475:550,643...671,771
Ensembl chrNW_004955475:551,159...671,747 		JBrowse link
X-linked Microhydranencephaly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gpkow G-patch domain and KOW motifs ISO ClinVar Annotator: match by term: Holoprosencephaly with fetal akinesia/hypokinesia sequence ClinVar NCBI chrNW_004955543:625,247...633,065 JBrowse link
ZIEGLER-HUANG SYNDROME term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc30a7 solute carrier family 30 member 7 ISO ClinVar Annotator: match by term: Ziegler-Huang syndrome ClinVar
OMIM		 PMID:25741868 PMID:36821639 NCBI chrNW_004955435:5,530,591...5,609,613
Ensembl chrNW_004955435:5,530,591...5,609,613 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16063
    Pathological Conditions, Signs and Symptoms 11054
      Pathologic Processes 6870
        Growth Disorders 947
          3p deletion syndrome 39
          Acid-Labile Subunit Deficiency 1
          Acrocephalopolydactylous Dysplasia 0
          Acromegaloid Features, Overgrowth, Cleft Palate, and Hernia 0
          Agonadism, XY, with Mental Retardation, Short Stature, Retarded Bone Age, and Multiple Extragenital Malformations 0
          Al Gazali Khidr Prem Chandran Syndrome 0
          Al Kaissi Syndrome 1
          Aphalangia Syndactyly Microcephaly 0
          Auriculoosteodysplasia 0
          Ayme-Gripp syndrome 1
          Bainbridge-Ropers syndrome 1
          Bellini Chiumello Rimoldi Syndrome 0
          Berk-Tabatznik Syndrome 0
          Bhaskar Jagannathan Syndrome 0
          Blepharophimosis with Ptosis, Syndactyly, and Short Stature 0
          Borjeson-Forssman-Lehmann syndrome 1
          Boudhina Yedes Khiari syndrome 0
          Braddock Carey Syndrome + 1
          CODAS syndrome 1
          Cantalamessa Baldini Ambrosi Syndrome 0
          Cantu Sanchez-Corona Fragoso Syndrome 0
          Cataracts, Ataxia, Short Stature, and Mental Retardation 0
          Chitty Hall Baraitser Syndrome 0
          Chromosome 18 Pericentric Inversion 0
          Clark-Baraitser syndrome 1
          Coffin Syndrome 1 0
          Congenital Progeroid Syndrome, Petty Type 1
          Cote Katsantoni Syndrome 0
          Cousin Syndrome 1
          Coxoauricular Syndrome 0
          Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation 0
          Crumpled Helices and Small Mouth 0
          Curatolo Cilio Pessagno Syndrome 0
          DNA ligase IV deficiency 1
          Daish Hardman Lamont Syndrome 0
          Dermoids of Cornea 0
          Devriendt syndrome 0
          Distal Renal Tubular Acidosis, with Nephrocalcinosis, Short Stature, Mental Retardation, and Distinctive Facies 0
          Dubowitz syndrome 0
          Dyschondrosteosis and Nephritis 0
          ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME 1
          EVEN-PLUS SYNDROME 1
          Epithelial Squamous Dysplasia, Keratinizing Desquamative, of Urinary Tract 0
          Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature 1
          Fallot Complex with Severe Mental and Growth Retardation 0
          Fetal Growth Retardation + 184
          Filippi syndrome 1
          Floating-Harbor syndrome 1
          Forsythe-Wakeling Syndrome 0
          Frias Syndrome 0
          GAPO syndrome 1
          GOMBO Syndrome 0
          GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES 1
          GROWTH RETARDATION, INTELLECTUAL DEVELOPMENTAL DISORDER, HYPOTONIA, AND HEPATOPATHY 1
          Game Friedman Paradice Syndrome 0
          Gay Feinmesser Cohen Syndrome 0
          Generalized Lipodystrophy with Mental Retardation, Deafness, Short Stature, and Slender Bones 0
          Gomez Lopez Hernandez Syndrome 0
          Goniodysgenesis-Mental Retardation-Short Stature Syndrome 0
          Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, and Cerebellar Atrophy 0
          Growth Mental Deficiency Syndrome of Myhre 2
          Growth Retardation, Small and Puffy Hands and Feet, and Eczema 0
          Growth and Developmental Retardation, Ocular Ptosis, Cardiac Defect, and Anal Atresia 0
          Hairy Elbows 0
          Heme Oxygenase 1 Deficiency 1
          Hersh Podruch Weisskopf Syndrome 0
          Heyn-Sproul-Jackson Syndrome 1
          Hooft Disease 0
          Hunter-McAlpine Syndrome 0
          Hutterite Cerebroosteonephrodysplasia Syndrome 0
          Hypergonadotropic Gonadal Dysgenesis XX Type, Short Stature, and Recurrent Metabolic Acidosis 0
          Hypoplastic Thumb with Choroid Coloboma, Poorly Developed Antihelix, and Deafness 0
          IGF1R-RELATED DISORDER 1
          INTELLECTUAL DEVELOPMENTAL DISORDER WITH POOR GROWTH AND WITH OR WITHOUT SEIZURES OR ATAXIA 1
          Infra-Auricular Cutaneous Creases with Tall Stature and Advanced Bone Age 0
          Insulin-Like Growth Factor I Deficiency 1
          Insulin-Like Growth Factor I, Resistance to, due to Increased Binding Protein 0
          Johanson-Blizzard syndrome 1
          Jorgenson Lenz Syndrome 0
          Kozlowski Rafinski Klicharska Syndrome 0
          Kuster Majewski Hammerstein Syndrome 0
          Ladda Zonana Ramer Syndrome 0
          Langer Mesomelic Dysplasia 1
          Larsen-like syndrome B3GAT3 type 12
          Laryngotracheal Stenosis, Progressive, with Short Stature and Arthropathy 0
          Leri-Weill dyschondrosteosis 2
          Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis 0
          Lowry Maclean syndrome 0
          Lowry Wood Syndrome 1
          Macrosomia Adiposa Congenita 0
          Madelung Deformity 0
          Malocclusion and Short Stature 0
          Megarbane Syndrome 0
          Meier-Gorlin syndrome + 13
          Mental Retardation Mietens Weber Type 0
          Mental Retardation with Optic Atrophy, Facial Dysmorphism, Microcephaly, and Short Stature 0
          Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, and Facial Dysmorphism 0
          Mental and Growth Retardation with Amblyopia 0
          Microcephaly with Cervical Spine Fusion Anomalies 0
          Microcephaly, Growth Restriction, and Increased Sister Chromatid Exchange + 454
          Microcephaly, Short Stature, and Impaired Glucose Metabolism + 2
          Microcephaly, Short Stature, and Polymicrogyria with or without Seizures 1
          Microdontia Hypodontia Short Stature 0
          Milner Khallouf Gibson Syndrome 0
          Mitochondrial Myopathy with Lactic Acidosis 1
          Mollica Pavone Antener Syndrome 0
          Morillo-Cucci Passarge Syndrome 0
          Mosaic Variegated Aneuploidy Syndrome 5 1
          Mosaic Variegated Aneuploidy Syndrome 6 1
          Multiform Ventricular Extrasystoles with Short Stature, Hyperpigmentation and Microcephaly 0
          Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, and Psychomotor Delay 0
          NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH AND SKELETAL ANOMALIES 0
          NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH, LARGE EARS, AND DYSMORPHIC FACIES 1
          Nathalie Syndrome 0
          Neonatal Zinc Deficiency due to Low Breast Milk Zinc 1
          Neurodevelopmental Disorder with Growth Retardation, Dysmorphic Facies, and Corpus Callosum Abnormalities 1
          Neurofaciodigitorenal Syndrome 0
          Nijmegen Breakage Syndrome-Like Disorder 1
          Ogden syndrome 1
          Onat Syndrome 0
          Osteolysis Syndrome, Recessive 0
          PSPH deficiency 5
          Partington Anderson Syndrome 0
          Pectus Excavatum, Macrocephaly, Short Stature, Dysplastic Nails 0
          Peters plus syndrome 2
          Petty Laxova Wiedemann Syndrome 0
          Pfeiffer Kapferer Syndrome 0
          Pfeiffer Mayer Syndrome 0
          Pfeiffer Palm Teller Syndrome 0
          Pili Torti, Developmental Delay, Neurological Abnormalities 1
          Pilotto Syndrome 0
          Polydysspondyly 0
          Premature Aging, Okamoto Type 0
          Progeria Short Stature Pigmented Nevi 0
          Qazi Markouizos syndrome 0
          Radioulnar Synostosis Retinal Pigment Abnormalities 0
          Rajab Interstitial Lung Disease with Brain Calcifications 1 1
          Ramon Syndrome 0
          Reardon Wilson Cavanagh Syndrome 0
          Retinal Dystrophy, Juvenile Cataracts, and Short Stature Syndrome 2
          Rhizomelic Dysplasia, Scoliosis, and Retinitis Pigmentosa 0
          Rodrigues Blindness 0
          Rommen Mueller Sybert Syndrome 0
          Rowley-Rosenberg Syndrome 0
          Ruijs-Aalfs syndrome 1
          SHORT STATURE AND ADVANCED BONE AGE, WITH OR WITHOUT EARLY-ONSET OSTEOARTHRITIS AND/OR OSTEOCHONDRITIS DISSECANS 1
          SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES 1
          SHORT syndrome 1
          SHOX-related short stature 1
          Say Meyer Syndrome 1
          Say Syndrome 0
          Schaap Taylor Baraitser Syndrome 0
          Schimke X-Linked Mental Retardation Syndrome 0
          Seemanova Lesny Syndrome 0
          Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation 1
          Short Stature Syndrome, Brussels Type 0
          Short Stature, Amelogenesis Imperfecta, and Skeletal Dysplasia with Scoliosis 1
          Short Stature, Facial Dysmorphism, Severe Brachydactyly, and Syndactyly 0
          Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis 1
          Short Stature, Optic Nerve Atrophy, and Pelger-Huet Anomaly 1
          Siddiqi syndrome 1
          Silver-Russell Syndrome 3 1
          Slavotinek Pike Mills Hurst Syndrome 0
          Sonoda Syndrome 0
          Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type 1
          Stern Lubinsky Durrie Syndrome 0
          Synostosis of Talus and Calcaneus with Short Stature 0
          THAUVIN-ROBINET-FAIVRE SYNDROME 1
          Tatton-Brown-Rahman syndrome 66
          Theodor Hertz Goodman Syndrome 0
          Thumb Agenesis, Short Stature, and Immunodeficiency 0
          Tonoki Syndrome 0
          Tsukahara Syndrome 1
          Turnpenny-Fry Syndrome 2
          Vater-Like Defects with Pulmonary Hypertension, Laryngeal Webs, and Growth Deficiency 0
          Verheij Syndrome 1
          Vertebral Body Fusion Overgrowth 0
          Viljoen Kallis Voges Syndrome 0
          Volcke Soekarman Syndrome 0
          Weill-Marchesani Syndrome 2 1
          Wellesley Carmen French Syndrome 0
          Wiedemann Grosse Dibbern Syndrome 0
          Wiedemann-Steiner syndrome 4
          Winchester syndrome 3
          Wittwer Syndrome 5
          X-linked mental retardation-hypotonic facies syndrome-1 3
          XEROSIS AND GROWTH FAILURE WITH IMMUNE AND PULMONARY DYSFUNCTION SYNDROME 0
          Young Hughes Syndrome 0
          ZIEGLER-HUANG SYNDROME 1
          Zerres Rietschel Majewski Syndrome 0
          acrocapitofemoral dysplasia 1
          brachydactyly type E2 1
          chromosome 15q26-qter deletion syndrome 14
          chromosome 17q11.2 deletion syndrome 1
          diphthamide deficiency syndrome 1 1
          geleophysic dysplasia + 3
          glycogen storage disease IX + 28
          hereditary spastic paraplegia 9A 1
          hypoparathyroidism-retardation-dysmorphism syndrome 2
          microcephaly, growth deficiency, seizures, and brain malformations 1
          neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies 1
          neurodevelopmental disorder with poor growth and behavioral abnormalities 1
          neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss 2
          neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties 2
          neurodevelopmental disorder with spasticity and poor growth 1
          omodysplasia 1 1
          spondyloepimetaphyseal dysplasia, Pakistani type 1
          spondylometaphyseal dysplasia corner fracture type 3
          syndromic X-linked intellectual disability Cabezas type 27
          syndromic X-linked intellectual disability Turner type 4
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