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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


show annotations for term's descendants           Sort by:
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 chr 2:41,666,974...41,754,624
Ensembl chr 2:41,666,909...41,754,620 		JBrowse link
G ACHE acetylcholinesterase ISO CTD Direct Evidence: marker/mechanism CTD PMID:22898132 NCBI chr 3:8,732,451...8,738,274
Ensembl chr 3:8,732,441...8,738,605 		JBrowse link
G ADAMTSL2 ADAMTS like 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18677313 NCBI chr 1:273,119,826...273,155,412
Ensembl chr 1:273,119,904...273,155,409 		JBrowse link
G AFF4 ALF transcription elongation factor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25730767 NCBI chr 2:135,196,067...135,283,931
Ensembl chr 2:135,200,076...135,283,675 		JBrowse link
G AHR aryl hydrocarbon receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:20961953 NCBI chr 9:86,511,866...86,555,950
Ensembl chr 9:86,511,369...86,555,943 		JBrowse link
G ATP7A ATPase copper transporting alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:23064757 NCBI chr  X:61,972,544...62,110,058
Ensembl chr  X:61,972,991...62,110,048 		JBrowse link
G ATRX ATRX chromatin remodeler ISO CTD Direct Evidence: marker/mechanism CTD PMID:19291773 NCBI chr  X:61,584,028...61,872,341
Ensembl chr  X:61,584,848...61,872,287 		JBrowse link
G AVPR2 vasopressin receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19703807 NCBI chr  X:124,638,433...124,640,969
Ensembl chr  X:124,638,523...124,640,966 		JBrowse link
G BUB1B BUB1 mitotic checkpoint serine/threonine kinase B ISO CTD Direct Evidence: marker/mechanism CTD PMID:15475955 NCBI chr 1:131,093,026...131,143,840
Ensembl chr 1:131,092,958...131,143,794 		JBrowse link
G CBL Cbl proto-oncogene ISO CTD Direct Evidence: marker/mechanism CTD PMID:20694012 NCBI chr 9:46,416,937...46,512,855
Ensembl chr 9:46,416,938...46,512,834 		JBrowse link
G CHD2 chromodomain helicase DNA binding protein 2 ISO ClinVar Annotator: match by term: Growth Retardation ClinVar NCBI chr 7:85,980,759...86,107,886
Ensembl chr 7:85,983,837...86,106,938 		JBrowse link
G CNTN4 contactin 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15106122 NCBI chr13:58,642,653...59,642,134
Ensembl chr13:58,974,198...59,642,130 		JBrowse link
G CYP1A2 cytochrome P450 family 1 subfamily A member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20961953 NCBI chr 7:58,779,529...58,786,155
Ensembl chr 7:58,779,475...58,786,100 		JBrowse link
G DNMT3A DNA methyltransferase 3 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:24614070 PMID:30478443 NCBI chr 3:113,501,972...113,609,148
Ensembl chr 3:113,528,926...113,603,087 		JBrowse link
G ERCC6 ERCC excision repair 6, chromatin remodeling factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:18628313 NCBI chr14:89,998,125...90,075,911
Ensembl chr14:90,002,024...90,075,898 		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 chr  X:47,191,838...47,231,656
Ensembl chr  X:47,192,427...47,231,342 		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 chr 8:879,151...894,968
Ensembl chr 8:879,159...894,964 		JBrowse link
G GLI2 GLI family zinc finger 2 ISO ClinVar Annotator: match by term: Growth Retardation ClinVar NCBI chr15:30,312,528...30,580,272
Ensembl chr15:30,313,817...30,579,306 		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 chr 6:63,867,155...63,957,514
Ensembl chr 6:63,867,158...63,952,505 		JBrowse link
G HMOX1 heme oxygenase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9884342
G IDH2 isocitrate dehydrogenase (NADP(+)) 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27469509 NCBI chr 7:55,654,298...55,675,571
Ensembl chr 7:55,651,609...55,675,554 		JBrowse link
G IGF1 insulin like growth factor 1 ISO IGF1 deficiency, OMIM:608747;DNA:deletion RGD PMID:8857020 RGD:1624297 NCBI chr 5:81,762,027...81,909,253
Ensembl chr 5:81,775,970...81,848,033 		JBrowse link
G IGF1R insulin like growth factor 1 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:14657428 NCBI chr 1:137,383,623...137,691,038
Ensembl chr 1:137,387,825...137,691,058 		JBrowse link
G IGF2 insulin like growth factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9349812 NCBI chr 2:1,469,183...1,496,417 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 chr 3:40,173,595...40,177,789
Ensembl chr 3:40,174,764...40,177,784 		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 chr 8:97,123,062...97,204,659
Ensembl chr 8:97,123,065...97,204,650 		JBrowse link
G JAK2 Janus kinase 2 ISO associated with Renal Insufficiency, Chronic;protein:decreased expression:epiphyseal plate RGD PMID:23715123 RGD:10403065 NCBI chr 1:216,849,744...217,002,310
Ensembl chr 1:216,848,689...217,002,148 		JBrowse link
G KCNMA1 potassium calcium-activated channel subfamily M alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28242822 NCBI chr14:79,345,382...80,106,337
Ensembl chr14:79,352,005...80,106,295 		JBrowse link
G LEMD2 LEM domain nuclear envelope protein 2 ISO ClinVar Annotator: match by term: Growth Retardation ClinVar PMID:25741868 PMID:30905398 NCBI chr 7:29,980,394...29,997,077
Ensembl chr 7:29,980,401...29,997,115 		JBrowse link
G LPAR1 lysophosphatidic acid receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11087877 NCBI chr 1:251,811,583...251,979,828
Ensembl chr 1:251,811,584...251,979,159 		JBrowse link
G LTBP3 latent transforming growth factor beta binding protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19344874 PMID:25899461 NCBI chr 2:6,701,455...6,720,191
Ensembl chr 2:6,701,510...6,720,153 		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 chr 2:71,602,888...71,613,331
Ensembl chr 2:71,602,770...71,613,312 		JBrowse link
G NPPC natriuretic peptide C ISO CTD Direct Evidence: marker/mechanism CTD PMID:17676597 NCBI chr15:132,504,669...132,509,688
Ensembl chr15:132,506,474...132,509,673 		JBrowse link
G NUP214 nucleoporin 214 ISO ClinVar Annotator: match by term: Growth Retardation ClinVar NCBI chr 1:271,103,838...271,210,292
Ensembl chr 1:271,104,033...271,210,288 		JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:22729222 NCBI chr13:117,193,935...117,282,151
Ensembl chr13:117,180,544...117,274,587 		JBrowse link
G PQBP1 polyglutamine binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14634649 PMID:16740914 NCBI chr  X:42,976,086...42,981,732
Ensembl chr  X:42,975,413...42,981,724 		JBrowse link
G PTHLH parathyroid hormone like hormone ISO CTD Direct Evidence: marker/mechanism CTD PMID:20170896 NCBI chr 5:45,750,968...45,763,421
Ensembl chr 5:45,751,292...45,763,415 		JBrowse link
G RAI1 retinoic acid induced 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18285828 NCBI chr12:60,751,159...60,854,710
Ensembl chr12:60,755,521...60,766,058 		JBrowse link
G RNF135 ring finger protein 135 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17632510 NCBI chr12:42,793,755...42,808,937
Ensembl chr12:42,795,409...42,808,897 		JBrowse link
G SECISBP2 SECIS binding protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19602558 NCBI chr14:911,985...955,978
Ensembl chr14:912,015...955,974 		JBrowse link
G SH3PXD2B SH3 and PX domains 2B ISO CTD Direct Evidence: marker/mechanism CTD PMID:19669234 NCBI chr16:51,733,170...51,858,774
Ensembl chr16:51,733,135...51,858,772 		JBrowse link
G TBX15 T-box transcription factor 15 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19068278 NCBI chr 4:101,918,891...102,032,280 JBrowse link
G TINF2 TERF1 interacting nuclear factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18252230 NCBI chr 7:75,056,790...75,067,895
Ensembl chr 7:75,056,798...75,063,979 		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 chr13:2,922,855...3,135,743
Ensembl chr13:2,922,853...3,135,709 		JBrowse link
G BTD biotinidase ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr13:2,840,425...2,902,619
Ensembl chr13:2,840,456...2,959,846 		JBrowse link
G C13H3orf20 chromosome 13 C3orf20 homolog ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr13:69,777,152...69,888,828
Ensembl chr13:69,788,148...69,895,217 		JBrowse link
G CAPN7 calpain 7 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr13:2,452,385...2,503,575
Ensembl chr13:2,452,215...2,504,581 		JBrowse link
G CCDC174 coiled-coil domain containing 174 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr13:69,898,803...69,918,896
Ensembl chr13:69,895,325...69,915,655 		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 chr13:70,417,326...70,428,923
Ensembl chr13:70,417,326...70,428,922 		JBrowse link
G COLQ collagen like tail subunit of asymmetric acetylcholinesterase ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr13:2,677,738...2,755,635
Ensembl chr13:2,677,740...2,755,307 		JBrowse link
G DAZL deleted in azoospermia like ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr13:3,762,896...3,783,848
Ensembl chr13:3,764,784...3,782,818 		JBrowse link
G DPH3 diphthamide biosynthesis 3 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr13:3,391,833...3,395,856
Ensembl chr13:3,391,823...3,395,856 		JBrowse link
G EAF1 ELL associated factor 1 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr13:2,654,829...2,671,140
Ensembl chr13:2,654,630...2,671,132 		JBrowse link
G EFHB EF-hand domain family member B ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr13:6,826,023...6,898,763
Ensembl chr13:6,824,503...6,898,764 		JBrowse link
G FBLN2 fibulin 2 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr13:70,757,255...70,830,430
Ensembl chr13:70,757,265...70,830,388 		JBrowse link
G FGD5 FYVE, RhoGEF and PH domain containing 5 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr13:69,594,225...69,724,051
Ensembl chr13:69,594,223...69,724,056 		JBrowse link
G GALNT15 polypeptide N-acetylgalactosaminyltransferase 15 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr13:3,329,824...3,371,094
Ensembl chr13:3,330,023...3,371,091 		JBrowse link
G GRIP2 glutamate receptor interacting protein 2 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr13:69,949,608...70,088,719
Ensembl chr13:69,988,459...70,088,718 		JBrowse link
G HACL1 2-hydroxyacyl-CoA lyase 1 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr13:2,786,007...2,840,882
Ensembl chr13:2,766,514...2,840,902 		JBrowse link
G HDAC11 histone deacetylase 11 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr13:70,860,650...70,879,863
Ensembl chr13:70,860,658...70,879,856 		JBrowse link
G KAT2B lysine acetyltransferase 2B ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr13:6,985,151...7,099,771
Ensembl chr13:6,985,235...7,100,345 		JBrowse link
G KCNH8 potassium voltage-gated channel subfamily H member 8 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr13:6,104,382...6,533,505
Ensembl chr13:6,104,537...6,532,592 		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 chr13:70,339,685...70,349,802
Ensembl chr13:70,336,907...70,348,651 		JBrowse link
G METTL6 methyltransferase 6, tRNA N3-cytidine ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr13:2,638,972...2,654,845
Ensembl chr13:2,638,389...2,654,836 		JBrowse link
G MRPS25 mitochondrial ribosomal protein S25 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr13:69,441,100...69,465,912
Ensembl chr13:69,441,116...69,467,895 		JBrowse link
G NR2C2 nuclear receptor subfamily 2 group C member 2 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr13:69,464,798...69,577,638
Ensembl chr13:69,464,795...69,576,946 		JBrowse link
G NUP210 nucleoporin 210 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr13:70,917,464...71,007,273
Ensembl chr13:70,917,477...71,007,271 		JBrowse link
G OXNAD1 oxidoreductase NAD binding domain containing 1 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr13:3,395,886...3,437,074
Ensembl chr13:3,396,097...3,437,070 		JBrowse link
G PLCL2 phospholipase C like 2 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr13:3,992,230...4,201,574
Ensembl chr13:3,992,835...4,201,569 		JBrowse link
G PP2D1 protein phosphatase 2C like domain containing 1 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr13:6,939,990...6,958,513
Ensembl chr13:6,939,517...6,961,810 		JBrowse link
G RAB5A RAB5A, member RAS oncogene family ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr13:6,905,302...6,940,165
Ensembl chr13:6,905,390...6,941,423 		JBrowse link
G RBSN rabenosyn, RAB effector ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr13:69,403,995...69,434,829
Ensembl chr13:69,404,021...69,434,829 		JBrowse link
G RFTN1 raftlin, lipid raft linker 1 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr13:3,454,448...3,675,072
Ensembl chr13:3,454,454...3,674,998 		JBrowse link
G SATB1 SATB homeobox 1 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr13:5,315,985...5,410,686
Ensembl chr13:5,314,148...5,417,610 		JBrowse link
G SETD5 SET domain containing 5 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:21681106 NCBI chr13:65,759,973...65,851,747
Ensembl chr13:65,759,987...65,850,506 		JBrowse link
G SH3BP5 SH3 domain binding protein 5 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr13:2,504,282...2,585,601
Ensembl chr13:2,506,156...2,585,526 		JBrowse link
G SLC6A6 solute carrier family 6 member 6 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr13:70,094,073...70,173,581
Ensembl chr13:70,094,079...70,173,582 		JBrowse link
G TBC1D5 TBC1 domain family member 5 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr13:4,191,544...4,738,448
Ensembl chr13:4,201,255...4,633,312 		JBrowse link
G THUMPD3 THUMP domain containing 3 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:21681106 NCBI chr13:65,720,556...65,747,989
Ensembl chr13:65,721,475...65,747,076 		JBrowse link
G TMEM43 transmembrane protein 43 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr13:70,397,069...70,417,213
Ensembl chr13:70,393,227...70,417,168 		JBrowse link
G WNT7A Wnt family member 7A ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr13:70,538,802...70,602,464
Ensembl chr13:70,538,894...70,602,454 		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 chr13:70,348,841...70,397,194
Ensembl chr13:70,348,864...70,397,772 		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 chr 3:40,173,595...40,177,789
Ensembl chr 3:40,174,764...40,177,784 		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 chr15:121,083,750...121,090,548
Ensembl chr15:121,083,753...121,090,121 		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 chr 6:332,239...339,130
Ensembl chr 6:332,242...339,142 		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 chr 6:8,468,736...8,910,012
Ensembl chr 6:8,468,413...8,485,030 		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:26539891 More... NCBI chr 6:117,334,177...117,518,589
Ensembl chr 6:117,334,259...117,518,026 		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 chr 1:165,123,006...165,193,002
Ensembl chr 1:165,127,994...165,192,924 		JBrowse link
G ABHD17C abhydrolase domain containing 17C, depalmitoylase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:49,540,698...49,599,323
Ensembl chr 7:49,540,879...49,599,319 		JBrowse link
G ABHD2 abhydrolase domain containing 2, acylglycerol lipase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:54,655,694...54,776,140
Ensembl chr 7:54,655,804...54,770,131 		JBrowse link
G ACAN aggrecan ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:54,449,830...54,520,606
Ensembl chr 7:54,449,816...54,519,194 		JBrowse link
G ACSBG1 acyl-CoA synthetase bubblegum family member 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:47,705,091...47,760,797
Ensembl chr 7:47,705,121...47,762,538 		JBrowse link
G ACTC1 actin alpha cardiac muscle 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:136,281,119...136,286,551
Ensembl chr 1:136,281,167...136,286,547 		JBrowse link
G ADAL adenosine deaminase like ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:128,089,422...128,125,691
Ensembl chr 1:128,095,940...128,120,765 		JBrowse link
G ADAM10 ADAM metallopeptidase domain 10 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:113,289,480...113,407,940
Ensembl chr 1:113,289,209...113,412,798 		JBrowse link
G ADAMTS7 ADAM metallopeptidase with thrombospondin type 1 motif 7 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:47,919,398...47,994,528
Ensembl chr 7:47,929,033...47,994,453 		JBrowse link
G ADAMTSL3 ADAMTS like 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:51,006,356...51,363,855
Ensembl chr 7:51,006,366...51,363,620 		JBrowse link
G ADPGK ADP dependent glucokinase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:60,584,038...60,623,898
Ensembl chr 7:60,584,051...60,623,929 		JBrowse link
G AEN apoptosis enhancing nuclease ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:191,200,625...191,211,884
Ensembl chr 1:191,200,632...191,219,961 		JBrowse link
G AFG2B AFG2 AAA ATPase homolog B ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:126,314,573...126,335,193
Ensembl chr 1:126,313,402...126,335,475 		JBrowse link
G AGBL1 AGBL carboxypeptidase 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:192,725,367...193,534,530
Ensembl chr 1:192,722,847...193,534,417 		JBrowse link
G AKAP13 A-kinase anchoring protein 13 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:87,889,384...88,222,854 JBrowse link
G ALDH1A2 aldehyde dehydrogenase 1 family member A2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:113,932,722...114,037,059
Ensembl chr 1:113,932,739...114,037,046 		JBrowse link
G ALPK3 alpha kinase 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:52,667,342...52,718,775
Ensembl chr 7:52,667,362...52,718,757 		JBrowse link
G ANKDD1A ankyrin repeat and death domain containing 1A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:107,095,472...107,185,484
Ensembl chr 1:107,094,123...107,135,517 		JBrowse link
G ANKRD34C ankyrin repeat domain 34C ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:48,404,846...48,421,101
Ensembl chr 7:48,405,156...48,421,098 		JBrowse link
G ANKRD63 ankyrin repeat domain 63 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:131,032,619...131,040,348
Ensembl chr 1:131,034,252...131,035,406 		JBrowse link
G ANP32A acidic nuclear phosphoprotein 32 family member A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:166,664,251...166,703,814 JBrowse link
G ANPEP alanyl aminopeptidase, membrane ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:55,351,081...55,373,856
Ensembl chr 7:55,351,087...55,373,881 		JBrowse link
G ANXA2 annexin A2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:111,588,721...111,635,064
Ensembl chr 1:111,588,306...111,635,059 		JBrowse link
G AP3B2 adaptor related protein complex 3 subunit beta 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:52,202,649...52,294,154
Ensembl chr 7:52,256,159...52,294,149 		JBrowse link
G AP3S2 adaptor-related protein complex 3, sigma 2 subunit ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:55,395,159...55,462,352
Ensembl chr 7:55,391,913...55,469,858 		JBrowse link
G AP4E1 adaptor related protein complex 4 subunit epsilon 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:120,880,460...120,946,045
Ensembl chr 1:120,880,456...120,946,031 		JBrowse link
G APH1B aph-1 homolog B, gamma-secretase subunit ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:108,549,297...108,763,279
Ensembl chr 1:108,730,298...108,763,401 		JBrowse link
G AQP9 aquaporin 9 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:113,798,380...113,848,452
Ensembl chr 1:113,794,040...113,848,683 		JBrowse link
G AQR aquarius intron-binding spliceosomal factor ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:136,135,854...136,235,538
Ensembl chr 1:136,121,111...136,233,825 		JBrowse link
G ARID3B AT-rich interaction domain 3B ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:58,932,450...58,998,707
Ensembl chr 7:58,932,461...58,998,711 		JBrowse link
G ARIH1 ariadne RBR E3 ubiquitin protein ligase 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:60,707,483...60,824,117
Ensembl chr 7:60,710,051...60,824,101 		JBrowse link
G ARNT2 aryl hydrocarbon receptor nuclear translocator 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:49,259,118...49,450,471
Ensembl chr 7:49,259,651...49,450,461 		JBrowse link
G ARPIN actin related protein 2/3 complex inhibitor ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:55,469,015...55,483,632
Ensembl chr 7:55,468,568...55,483,536 		JBrowse link
G ARPP19 cAMP regulated phosphoprotein 19 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:119,134,318...119,157,169
Ensembl chr 1:119,134,851...119,157,352 		JBrowse link
G ATOSA atos homolog A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:118,993,862...119,124,472
Ensembl chr 1:119,020,990...119,124,464 		JBrowse link
G ATP8B4 ATPase phospholipid transporting 8B4 (putative) ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:121,629,072...121,914,633
Ensembl chr 1:121,650,951...121,914,712 		JBrowse link
G AVEN apoptosis and caspase activation inhibitor ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:80,447,337...80,640,120
Ensembl chr 7:80,447,524...80,640,119 		JBrowse link
G B2M beta-2-microglobulin ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:126,837,721...126,844,043
Ensembl chr 1:126,835,143...126,981,582 		JBrowse link
G BAHD1 bromo adjacent homology domain containing 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:130,849,835...130,874,735
Ensembl chr 1:130,849,842...130,875,974 		JBrowse link
G BBS4 Bardet-Biedl syndrome 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:60,631,913...60,693,359
Ensembl chr 7:60,631,914...60,693,334 		JBrowse link
G BCL2A1 BCL2 related protein A1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:48,887,227...48,897,667
Ensembl chr 7:48,887,094...48,897,870 		JBrowse link
G BCL2L10 BCL2 like 10 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:119,594,004...119,607,709 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 chr 7:53,317,515...53,412,649
Ensembl chr 7:53,317,540...53,412,645 		JBrowse link
G BLOC1S6 biogenesis of lysosomal organelles complex 1 subunit 6 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:126,168,944...126,184,813
Ensembl chr 1:126,165,994...126,184,858 		JBrowse link
G BMF Bcl2 modifying factor ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:131,178,021...131,199,668
Ensembl chr 1:131,178,315...131,200,393 		JBrowse link
G BNC1 basonuclin zinc finger protein 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:51,651,179...51,679,781
Ensembl chr 7:51,652,542...51,679,775 		JBrowse link
G BNIP2 BCL2 interacting protein 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:112,272,883...112,370,404
Ensembl chr 1:112,344,228...112,370,404 		JBrowse link
G BTBD1 BTB domain containing 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:51,877,446...51,925,886
Ensembl chr 7:51,877,354...51,924,869 		JBrowse link
G BUB1B BUB1 mitotic checkpoint serine/threonine kinase B ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:131,093,026...131,143,840
Ensembl chr 1:131,092,958...131,143,794 		JBrowse link
G C1H15orf48 chromosome 1 C15orf48 homolog ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:126,304,461...126,307,951
Ensembl chr 1:126,304,474...126,310,749 		JBrowse link
G C1H15orf61 chromosome 1 C15orf61 homolog ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:165,436,810...165,441,736
Ensembl chr 1:165,436,814...165,441,736 		JBrowse link
G C2CD4B C2 calcium dependent domain containing 4B ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:109,824,467...109,827,631 JBrowse link
G C7H15orf39 chromosome 7 C15orf39 homolog ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:58,380,602...58,390,117
Ensembl chr 7:58,381,034...58,386,366 		JBrowse link
G C7H15orf40 chromosome 7 C15orf40 homolog ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:51,929,349...51,935,724
Ensembl chr 7:51,929,373...51,935,723 		JBrowse link
G CA12 carbonic anhydrase 12 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:108,649,277...108,710,658
Ensembl chr 1:108,649,271...108,710,651 		JBrowse link
G CALML4 calmodulin like 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:166,089,583...166,099,794
Ensembl chr 1:166,083,629...166,099,593 		JBrowse link
G CAPN3 calpain 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:128,960,117...129,013,508
Ensembl chr 1:128,960,118...129,013,546 		JBrowse link
G CATSPER2 cation channel sperm associated 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:127,814,349...127,831,023
Ensembl chr 1:127,814,376...127,829,109 		JBrowse link
G CCDC32 coiled-coil domain containing 32 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:130,753,107...130,764,747
Ensembl chr 1:130,753,186...130,764,746 		JBrowse link
G CCDC33 coiled-coil domain containing 33 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:59,188,624...59,224,071
Ensembl chr 7:59,190,179...59,290,877 		JBrowse link
G CCDC9B coiled-coil domain containing 9B ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:130,974,635...130,983,973
Ensembl chr 1:130,975,347...130,983,969 		JBrowse link
G CCNB2 cyclin B2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:112,907,047...112,942,218
Ensembl chr 1:112,907,047...112,942,235 		JBrowse link
G CCNDBP1 cyclin D1 binding protein 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:128,253,111...128,269,534
Ensembl chr 1:128,253,035...128,269,452 		JBrowse link
G CCPG1 cell cycle progression 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:116,447,171...116,492,917
Ensembl chr 1:116,449,079...116,492,907 		JBrowse link
G CD276 CD276 molecule ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:59,703,283...59,733,910
Ensembl chr 7:59,703,289...59,733,777 		JBrowse link
G CDAN1 codanin 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:128,641,411...128,655,556
Ensembl chr 1:128,641,430...128,655,554 		JBrowse link
G CDIN1 CDAN1 interacting nuclease 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:134,301,076...134,538,874
Ensembl chr 1:134,301,103...134,538,461 		JBrowse link
G CELF6 CUGBP Elav-like family member 6 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:60,931,100...60,960,929
Ensembl chr 7:60,930,982...60,960,119 		JBrowse link
G CEMIP cell migration inducing hyaluronidase 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:49,622,534...49,792,547
Ensembl chr 7:49,622,539...49,792,543 		JBrowse link
G CEP152 centrosomal protein 152 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:122,876,146...122,979,851
Ensembl chr 1:122,876,141...122,979,845 		JBrowse link
G CFAP161 cilia and flagella associated protein 161 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:49,912,450...49,940,708
Ensembl chr 7:49,927,305...49,940,707 		JBrowse link
G CGNL1 cingulin like 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:114,424,148...114,628,331
Ensembl chr 1:114,424,151...114,598,823 		JBrowse link
G CHAC1 ChaC glutathione specific gamma-glutamylcyclotransferase 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:130,360,510...130,363,332
Ensembl chr 1:130,360,514...130,363,308 		JBrowse link
G CHP1 calcineurin like EF-hand protein 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:130,073,919...130,112,461
Ensembl chr 1:130,073,928...130,112,751 		JBrowse link
G CHRM5 cholinergic receptor muscarinic 5 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:80,423,768...80,429,187
Ensembl chr 7:80,427,360...80,428,963 		JBrowse link
G CHRNA3 cholinergic receptor nicotinic alpha 3 subunit ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:47,361,710...47,382,743
Ensembl chr 7:47,361,899...47,384,303 		JBrowse link
G CHRNA5 cholinergic receptor nicotinic alpha 5 subunit ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:47,382,860...47,425,871
Ensembl chr 7:47,383,792...47,425,841 		JBrowse link
G CHRNB4 cholinergic receptor nicotinic beta 4 subunit ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:47,338,819...47,359,064 JBrowse link
G CHST14 carbohydrate sulfotransferase 14 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:130,845,103...130,847,203
Ensembl chr 1:130,845,835...130,846,965 		JBrowse link
G CIAO2A cytosolic iron-sulfur assembly component 2A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:107,951,618...107,969,306
Ensembl chr 1:107,951,646...107,969,298 		JBrowse link
G CIB1 calcium and integrin binding 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:55,794,834...55,798,666
Ensembl chr 7:55,794,836...55,798,590 		JBrowse link
G CIB2 calcium and integrin binding family member 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:47,807,806...47,813,400
Ensembl chr 7:47,788,646...47,813,399 		JBrowse link
G CILP cartilage intermediate layer protein ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:163,236,864...163,271,222
Ensembl chr 1:163,237,100...163,256,533 		JBrowse link
G CIMAP1C ciliary microtubule associated protein 1C ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:57,935,284...57,939,020
Ensembl chr 7:57,935,610...57,938,958 		JBrowse link
G CKMT1A creatine kinase, mitochondrial 1A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:127,852,533...127,859,066 JBrowse link
G CLK3 CDC like kinase 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:58,895,407...58,909,616
Ensembl chr 7:58,895,419...58,909,551 		JBrowse link
G CLN6 CLN6 transmembrane ER protein ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:166,107,895...166,126,054
Ensembl chr 1:166,107,228...166,126,808 		JBrowse link
G CLPX caseinolytic mitochondrial matrix peptidase chaperone subunit X ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:163,173,887...163,222,067
Ensembl chr 1:163,173,891...163,222,031 		JBrowse link
G COMMD4 COMM domain containing 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:58,276,954...58,283,128
Ensembl chr 7:58,276,957...58,283,114 		JBrowse link
G COPS2 COP9 signalosome subunit 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:122,542,324...122,574,462
Ensembl chr 1:122,542,387...122,578,858 		JBrowse link
G CORO2B coronin 2B ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:166,465,870...166,608,840
Ensembl chr 1:166,465,953...166,608,363 		JBrowse link
G COX5A cytochrome c oxidase subunit 5A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:58,622,969...58,644,024
Ensembl chr 7:58,622,964...58,644,021 		JBrowse link
G CPEB1 cytoplasmic polyadenylation element binding protein 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:52,329,054...52,382,408
Ensembl chr 7:52,304,472...52,383,732 		JBrowse link
G CPLX3 complexin 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:58,712,743...58,717,028
Ensembl chr 7:58,712,744...58,716,997 		JBrowse link
G CRABP1 cellular retinoic acid binding protein 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:47,602,316...47,608,865
Ensembl chr 7:47,602,192...47,608,970 		JBrowse link
G CRTC3 CREB regulated transcription coactivator 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:53,146,317...53,255,985
Ensembl chr 7:53,146,404...53,255,977 		JBrowse link
G CSK C-terminal Src kinase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:58,736,473...58,755,034
Ensembl chr 7:58,736,531...58,755,260 		JBrowse link
G CSNK1G1 casein kinase 1 gamma 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:107,690,049...107,884,054
Ensembl chr 1:107,690,065...107,884,045 		JBrowse link
G CSPG4 chondroitin sulfate proteoglycan 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:57,949,182...57,988,602
Ensembl chr 7:57,949,455...57,988,335 		JBrowse link
G CTDSPL2 CTD small phosphatase like 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:127,029,445...127,125,747
Ensembl chr 1:127,028,887...127,125,392 		JBrowse link
G CTSH cathepsin H ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:48,084,882...48,106,072
Ensembl chr 7:48,083,572...48,106,072 		JBrowse link
G CTXN2 cortexin 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:123,570,291...123,582,883
Ensembl chr 1:123,574,703...123,582,998 		JBrowse link
G CYP11A1 cytochrome P450 family 11 subfamily A member 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:59,172,829...59,188,479
Ensembl chr 7:59,175,758...59,188,478 		JBrowse link
G CYP19A3 cytochrome P450 19A3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:120,476,890...120,556,103
Ensembl chr 1:120,367,667...120,695,899 		JBrowse link
G CYP1A1 cytochrome P450 family 1 subfamily A member 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:58,802,887...58,809,155
Ensembl chr 7:58,802,887...58,809,775 		JBrowse link
G CYP1A2 cytochrome P450 family 1 subfamily A member 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:58,779,529...58,786,155
Ensembl chr 7:58,779,475...58,786,100 		JBrowse link
G DAPK2 death associated protein kinase 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:107,997,274...108,131,723
Ensembl chr 1:107,997,293...108,132,781 		JBrowse link
G DENND4A DENN domain containing 4A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:163,661,448...163,790,264
Ensembl chr 1:163,660,244...163,790,334 		JBrowse link
G DET1 DET1 partner of COP1 E3 ubiquitin ligase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:191,263,449...191,284,973
Ensembl chr 1:191,263,448...191,284,967 		JBrowse link
G DIS3L DIS3 like exosome 3'-5' exoribonuclease ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:164,310,120...164,352,182
Ensembl chr 1:164,310,448...164,353,537 		JBrowse link
G DISP2 dispatched RND transporter family member 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:130,931,909...130,962,780
Ensembl chr 1:130,937,400...130,952,046 		JBrowse link
G DLL4 delta like canonical Notch ligand 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:130,376,720...130,386,411
Ensembl chr 1:130,376,721...130,386,411 		JBrowse link
G DMXL2 Dmx like 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:120,138,249...120,298,603
Ensembl chr 1:120,138,336...120,298,586 		JBrowse link
G DNAAF4 dynein axonemal assembly factor 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:116,331,217...116,431,673
Ensembl chr 1:116,332,630...116,430,984 		JBrowse link
G DNAJA4 DnaJ heat shock protein family (Hsp40) member A4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:47,660,361...47,674,890
Ensembl chr 7:47,656,541...47,675,582 		JBrowse link
G DNAJC17 DnaJ heat shock protein family (Hsp40) member C17 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:130,516,725...130,559,233
Ensembl chr 1:130,516,779...130,559,234 		JBrowse link
G DPH6 diphthamine biosynthesis 6 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:135,577,558...136,022,910
Ensembl chr 1:135,577,936...135,751,890 		JBrowse link
G DPP8 dipeptidyl peptidase 8 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:163,446,890...163,517,434
Ensembl chr 1:163,446,899...163,517,413 		JBrowse link
G DTWD1 DTW domain containing 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:122,121,332...122,139,322
Ensembl chr 1:122,118,951...122,139,272 		JBrowse link
G DUOX1 dual oxidase 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:126,572,533...126,603,084
Ensembl chr 1:126,572,492...126,603,082 		JBrowse link
G DUOX2 dual oxidase 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:126,620,468...126,641,406
Ensembl chr 1:126,620,510...126,641,406 		JBrowse link
G DUOXA1 dual oxidase maturation factor 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:126,605,142...126,615,736
Ensembl chr 1:126,605,142...126,615,719 		JBrowse link
G DUOXA2 dual oxidase maturation factor 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:126,616,631...126,620,359
Ensembl chr 1:126,613,201...126,623,388 		JBrowse link
G DUT deoxyuridine triphosphatase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:123,451,207...123,462,267
Ensembl chr 1:123,450,858...123,462,245 		JBrowse link
G EDC3 enhancer of mRNA decapping 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:58,828,693...58,895,475
Ensembl chr 7:58,828,727...58,897,919 		JBrowse link
G EFL1 elongation factor like GTPase 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:50,839,725...50,977,024
Ensembl chr 7:50,839,725...50,977,024 		JBrowse link
G EHD4 EH domain containing 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:129,374,515...129,460,206
Ensembl chr 1:129,374,613...129,458,686 		JBrowse link
G EID1 EP300 interacting inhibitor of differentiation 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:122,810,484...122,812,481
Ensembl chr 1:122,811,556...122,812,131 		JBrowse link
G EIF2AK4 eukaryotic translation initiation factor 2 alpha kinase 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:131,244,818...131,355,240
Ensembl chr 1:131,245,466...131,355,226 		JBrowse link
G EIF3J eukaryotic translation initiation factor 3 subunit J ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:126,998,613...127,019,264
Ensembl chr 1:126,997,227...127,019,147 		JBrowse link
G ELL3 elongation factor for RNA polymerase II 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:127,781,357...127,784,803
Ensembl chr 1:127,781,403...127,784,843 		JBrowse link
G EMC4 ER membrane protein complex subunit 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:80,266,001...80,270,691
Ensembl chr 7:80,265,446...80,270,691 		JBrowse link
G EMC7 ER membrane protein complex subunit 7 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:80,391,198...80,408,340
Ensembl chr 7:80,391,189...80,446,528 		JBrowse link
G EPB42 erythrocyte membrane protein band 4.2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:128,231,863...128,253,696
Ensembl chr 1:128,231,997...128,253,031 		JBrowse link
G ETFA electron transfer flavoprotein subunit alpha ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:56,450,508...56,540,275
Ensembl chr 7:56,450,520...56,540,253 		JBrowse link
G EXD1 exonuclease 3'-5' domain containing 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:130,112,461...130,153,485
Ensembl chr 1:130,112,847...130,153,478 		JBrowse link
G FAH fumarylacetoacetate hydrolase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:49,047,833...49,087,790
Ensembl chr 7:49,047,902...49,087,783 		JBrowse link
G FAM219B family with sequence similarity 219 member B ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:58,650,165...58,656,233
Ensembl chr 7:58,650,754...58,659,479 		JBrowse link
G FAM227B family with sequence similarity 227 member B ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:122,139,343...122,373,488
Ensembl chr 1:122,149,486...122,373,470 		JBrowse link
G FAM81A family with sequence similarity 81 member A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:112,548,260...112,677,675
Ensembl chr 1:112,548,265...112,620,769 		JBrowse link
G FAM98B family with sequence similarity 98 member B ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:132,786,198...132,819,291
Ensembl chr 1:132,789,275...132,819,489 		JBrowse link
G FANCI FA complementation group I ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:54,811,024...54,889,992
Ensembl chr 7:54,811,027...54,889,998 		JBrowse link
G FBN1 fibrillin 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:123,102,011...123,359,649
Ensembl chr 1:123,102,009...123,359,649 		JBrowse link
G FBXL22 F-box and leucine rich repeat protein 22 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:108,408,227...108,411,937
Ensembl chr 1:108,408,995...108,411,768 		JBrowse link
G FBXO22 F-box protein 22 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:56,146,874...56,189,921
Ensembl chr 7:56,146,880...56,186,317 		JBrowse link
G FEM1B fem-1 homolog B ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:166,161,548...166,178,086
Ensembl chr 1:166,162,883...166,175,937 		JBrowse link
G FES FES proto-oncogene, tyrosine kinase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:53,472,947...53,485,084
Ensembl chr 7:53,472,947...53,485,082 		JBrowse link
G FGF7 fibroblast growth factor 7 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:122,215,878...122,278,705
Ensembl chr 1:122,215,882...122,277,750 		JBrowse link
G FOXB1 forkhead box B1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:111,997,638...112,000,550
Ensembl chr 1:111,997,642...112,000,550 		JBrowse link
G FRMD5 FERM domain containing 5 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:127,317,660...127,653,112
Ensembl chr 1:127,317,701...127,650,665 		JBrowse link
G FSD2 fibronectin type III and SPRY domain containing 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:52,144,469...52,194,142
Ensembl chr 7:52,144,506...52,194,133 		JBrowse link
G FSIP1 fibrous sheath interacting protein 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:131,510,460...131,719,407
Ensembl chr 1:131,510,455...131,719,254 		JBrowse link
G FURIN furin, paired basic amino acid cleaving enzyme ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:53,455,634...53,472,791
Ensembl chr 7:53,460,017...53,472,787 		JBrowse link
G GABPB1 GA binding protein transcription factor subunit beta 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:121,410,276...121,488,165
Ensembl chr 1:121,413,506...121,489,806 		JBrowse link
G GALK2 galactokinase 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:122,370,616...122,542,287
Ensembl chr 1:122,369,545...122,542,222 		JBrowse link
G GANC glucosidase alpha, neutral C ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:129,021,114...129,098,313
Ensembl chr 1:129,021,115...129,098,269 		JBrowse link
G GATM glycine amidinotransferase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:126,361,968...126,378,705
Ensembl chr 1:126,361,945...126,380,871 		JBrowse link
G GCHFR GTP cyclohydrolase I feedback regulator ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:130,559,223...130,563,598
Ensembl chr 1:130,554,978...130,559,597 		JBrowse link
G GCNT3 glucosaminyl (N-acetyl) transferase 3, mucin type ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:112,424,212...112,540,984
Ensembl chr 1:112,422,879...112,540,983 		JBrowse link
G GDPGP1 GDP-D-glucose phosphorylase 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:55,798,692...55,808,445
Ensembl chr 7:55,806,636...55,807,790 		JBrowse link
G GJD2 gap junction protein delta 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:136,310,759...136,328,060
Ensembl chr 1:136,324,192...136,327,347 		JBrowse link
G GLCE glucuronic acid epimerase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:167,007,930...167,122,196
Ensembl chr 1:167,007,939...167,122,186 		JBrowse link
G GLDN gliomedin ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:120,322,417...120,399,059
Ensembl chr 1:120,322,432...120,399,041 		JBrowse link
G GNB5 G protein subunit beta 5 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:119,545,382...119,589,860
Ensembl chr 1:119,537,551...119,589,865 		JBrowse link
G GOLM2 golgi membrane protein 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:127,132,387...127,238,488
Ensembl chr 1:127,131,105...127,238,601 		JBrowse link
G GPR176 G protein-coupled receptor 176 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:131,355,332...131,494,967
Ensembl chr 1:131,365,180...131,494,959 		JBrowse link
G GREM1 gremlin 1, DAN family BMP antagonist ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:136,617,041...136,629,293
Ensembl chr 1:136,617,105...136,629,292 		JBrowse link
G GTF2A2 general transcription factor IIA subunit 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:112,371,276...112,399,541
Ensembl chr 1:112,390,594...112,402,265 		JBrowse link
G HACD3 3-hydroxyacyl-CoA dehydratase 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:163,525,872...163,567,649
Ensembl chr 1:163,525,965...163,588,798 		JBrowse link
G HAPLN3 hyaluronan and proteoglycan link protein 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:54,519,790...54,537,429
Ensembl chr 7:54,519,800...54,537,434 		JBrowse link
G HAUS2 HAUS augmin like complex subunit 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:128,820,551...128,839,027
Ensembl chr 1:128,819,957...128,839,134 		JBrowse link
G HCN4 hyperpolarization activated cyclic nucleotide gated potassium channel 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:60,010,396...60,052,258
Ensembl chr 7:60,010,283...60,050,689 		JBrowse link
G HDC histidine decarboxylase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:121,505,677...121,525,416
Ensembl chr 1:121,505,751...121,525,252 		JBrowse link
G HDDC3 HD domain containing 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:53,525,984...53,527,913
Ensembl chr 7:53,525,989...53,528,004 		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 chr 1:108,206,172...108,404,149
Ensembl chr 1:108,205,580...108,403,862 		JBrowse link
G HEXA hexosaminidase subunit alpha ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:60,878,531...60,911,537
Ensembl chr 7:60,878,284...60,913,339 		JBrowse link
G HMG20A high mobility group 20A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:57,504,048...57,570,035
Ensembl chr 7:57,504,465...57,570,023 		JBrowse link
G HOMER2 homer scaffold protein 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:52,001,253...52,104,426
Ensembl chr 7:52,001,579...52,096,828 		JBrowse link
G HYKK hydroxylysine kinase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:47,451,822...47,474,778
Ensembl chr 7:47,449,036...47,474,648 		JBrowse link
G ICE2 interactor of little elongation complex ELL subunit 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:111,489,759...111,560,751
Ensembl chr 1:111,489,772...111,561,911 		JBrowse link
G IDH2 isocitrate dehydrogenase (NADP(+)) 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:55,654,298...55,675,571
Ensembl chr 7:55,651,609...55,675,554 		JBrowse link
G IDH3A isocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:47,759,436...47,778,948
Ensembl chr 7:47,759,439...47,778,956 		JBrowse link
G IGDCC3 immunoglobulin superfamily DCC subclass member 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:163,347,331...163,392,164
Ensembl chr 1:163,348,819...163,391,869 		JBrowse link
G IGDCC4 immunoglobulin superfamily DCC subclass member 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:163,396,224...163,435,902
Ensembl chr 1:163,396,234...163,436,063 		JBrowse link
G IL16 interleukin 16 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:49,973,937...50,102,346
Ensembl chr 7:49,973,938...50,102,346 		JBrowse link
G IMP3 IMP U3 small nucleolar ribonucleoprotein 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:58,023,368...58,024,496
Ensembl chr 7:58,023,368...58,024,496 		JBrowse link
G INO80 INO80 complex ATPase subunit ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:130,201,705...130,341,627
Ensembl chr 1:130,201,718...130,342,838 		JBrowse link
G INSYN1 inhibitory synaptic factor 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:59,663,878...59,680,847
Ensembl chr 7:59,665,735...59,677,104 		JBrowse link
G INTS14 integrator complex subunit 14 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:163,565,826...163,603,185
Ensembl chr 1:163,567,777...163,603,184 		JBrowse link
G IQCH IQ motif containing H ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:165,193,090...165,419,528
Ensembl chr 1:165,193,111...165,431,058 		JBrowse link
G IREB2 iron responsive element binding protein 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:47,481,539...47,529,199
Ensembl chr 7:47,478,706...47,529,242 		JBrowse link
G ISG20 interferon stimulated exonuclease gene 20 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:191,155,853...191,195,601
Ensembl chr 1:191,183,599...191,195,475 		JBrowse link
G ISL2 ISL LIM homeobox 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:56,571,352...56,579,828
Ensembl chr 7:56,571,419...56,577,253 		JBrowse link
G ISLR immunoglobulin superfamily containing leucine rich repeat ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:59,349,674...59,352,936
Ensembl chr 7:59,349,675...59,352,839 		JBrowse link
G ISLR2 immunoglobulin superfamily containing leucine rich repeat 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:59,385,021...59,393,185
Ensembl chr 7:59,386,241...59,388,481 		JBrowse link
G ITGA11 integrin subunit alpha 11 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:166,186,601...166,311,046
Ensembl chr 1:166,186,613...166,310,800 		JBrowse link
G ITPKA inositol-trisphosphate 3-kinase A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:129,867,261...129,877,762
Ensembl chr 1:129,867,642...129,875,639 		JBrowse link
G IVD isovaleryl-CoA dehydrogenase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:130,916,956...130,930,172
Ensembl chr 1:130,916,146...130,930,078 		JBrowse link
G IVD isovaleryl-CoA dehydrogenase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:130,896,488...130,910,582
Ensembl chr 1:130,893,984...130,910,586 		JBrowse link
G JMJD7 jumonji domain containing 7 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:129,525,369...129,533,286
Ensembl chr 1:129,525,572...129,533,305 		JBrowse link
G KATNBL1 katanin regulatory subunit B1 like 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:80,287,989...80,383,036
Ensembl chr 7:80,288,066...80,383,037 		JBrowse link
G KBTBD13 kelch repeat and BTB domain containing 13 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:163,113,280...163,116,889
Ensembl chr 1:163,113,324...163,116,887 		JBrowse link
G KIF23 kinesin family member 23 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:167,239,973...167,281,250
Ensembl chr 1:167,239,997...167,281,245 		JBrowse link
G KIF7 kinesin family member 7 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:55,200,591...55,220,237
Ensembl chr 7:55,200,594...55,220,240 		JBrowse link
G KLHL25 kelch like family member 25 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:88,249,009...88,291,958
Ensembl chr 7:88,262,385...88,264,691 		JBrowse link
G KNL1 kinetochore scaffold 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:130,652,493...130,728,989 JBrowse link
G LACTB lactamase beta ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:108,909,690...108,924,509
Ensembl chr 1:108,909,693...108,924,511 		JBrowse link
G LARP6 La ribonucleoprotein 6, translational regulator ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:168,508,472...168,530,439
Ensembl chr 1:168,507,976...168,530,239 		JBrowse link
G LCMT2 leucine carboxyl methyltransferase 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:128,125,674...128,131,064 JBrowse link
G LCTL lactase like ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:164,526,477...164,540,177
Ensembl chr 1:164,526,502...164,540,118 		JBrowse link
G LEO1 LEO1 homolog, Paf1/RNA polymerase II complex component ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:119,804,992...119,842,343
Ensembl chr 1:119,805,006...119,859,434 		JBrowse link
G LINGO1 leucine rich repeat and Ig domain containing 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:57,684,591...57,890,121
Ensembl chr 7:57,684,589...57,890,126 		JBrowse link
G LIPC lipase C, hepatic type ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:113,433,684...113,604,139
Ensembl chr 1:113,433,687...113,583,963 		JBrowse link
G LMAN1L lectin, mannose binding 1 like ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:58,717,159...58,730,752
Ensembl chr 7:58,717,821...58,730,172 		JBrowse link
G LOC100152206 C2 calcium-dependent domain-containing protein 4A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:109,920,142...109,927,760 JBrowse link
G LOC100627175 GRAM domain containing 2-like ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:169,638,097...169,664,774 JBrowse link
G LOC102167410 5-formyltetrahydrofolate cyclo-ligase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:48,717,518...48,873,492
Ensembl chr 7:48,717,851...48,873,455 		JBrowse link
G LOXL1 lysyl oxidase like 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:59,481,410...59,505,161
Ensembl chr 7:59,481,412...59,505,149 		JBrowse link
G LPCAT4 lysophosphatidylcholine acyltransferase 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:80,140,969...80,155,040
Ensembl chr 7:80,141,203...80,149,077 		JBrowse link
G LRRC49 leucine rich repeat containing 49 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:168,553,361...168,711,739
Ensembl chr 1:168,544,421...168,700,891 		JBrowse link
G LRRC57 leucine rich repeat containing 57 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:128,839,137...128,845,749
Ensembl chr 1:128,839,204...128,847,431 		JBrowse link
G LTK leukocyte receptor tyrosine kinase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:129,863,837...129,867,254 JBrowse link
G LYSMD2 LysM domain containing 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:120,009,417...120,043,146
Ensembl chr 1:120,026,532...120,043,127 		JBrowse link
G MAN2A2 mannosidase alpha class 2A member 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:53,498,917...53,519,512
Ensembl chr 7:53,498,966...53,519,688 		JBrowse link
G MAN2C1 mannosidase alpha class 2C member 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:58,247,264...58,261,204
Ensembl chr 7:58,248,384...58,261,203 		JBrowse link
G MAP1A microtubule associated protein 1A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:127,916,639...127,936,952
Ensembl chr 1:127,916,644...127,936,955 		JBrowse link
G MAP2K1 mitogen-activated protein kinase kinase 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:164,381,892...164,469,313
Ensembl chr 1:164,381,845...164,471,226 		JBrowse link
G MAP2K5 mitogen-activated protein kinase kinase 5 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:165,458,263...165,733,452
Ensembl chr 1:165,458,258...165,740,297 		JBrowse link
G MAPK6 mitogen-activated protein kinase 6 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:119,725,026...119,770,988
Ensembl chr 1:119,725,029...119,771,312 		JBrowse link
G MAPKBP1 mitogen-activated protein kinase binding protein 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:129,533,535...129,589,084
Ensembl chr 1:129,533,539...129,588,095 		JBrowse link
G MEGF11 multiple EGF like domains 11 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:163,894,929...164,275,439
Ensembl chr 1:163,894,312...164,275,442 		JBrowse link
G MEIS2 Meis homeobox 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:134,013,642...134,223,013
Ensembl chr 1:134,013,820...134,223,012 		JBrowse link
G MESD mesoderm development LRP chaperone ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:49,807,309...49,817,725
Ensembl chr 7:49,807,125...49,817,658 		JBrowse link
G MESP1 mesoderm posterior bHLH transcription factor 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:55,322,016...55,327,600
Ensembl chr 7:55,322,274...55,323,539 		JBrowse link
G MESP2 mesoderm posterior bHLH transcription factor 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:55,341,941...55,345,824
Ensembl chr 7:55,342,935...55,345,879 		JBrowse link
G MEX3B mex-3 RNA binding family member B ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:50,747,828...50,753,119
Ensembl chr 7:50,747,841...50,751,777 		JBrowse link
G MFAP1 microfibril associated protein 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:127,741,407...127,756,168
Ensembl chr 1:127,741,455...127,756,205 		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 chr 7:54,539,970...54,554,885
Ensembl chr 7:54,539,970...54,571,747 		JBrowse link
G MGA MAX dimerization protein MGA ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:129,590,645...129,697,434
Ensembl chr 1:129,594,795...129,697,408 		JBrowse link
G MINAR1 membrane integral NOTCH2 associated receptor 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:48,501,067...48,539,300
Ensembl chr 7:48,501,078...48,539,300 		JBrowse link
G MINDY2 MINDY lysine 48 deubiquitinase 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:113,171,047...113,258,761
Ensembl chr 1:113,176,223...113,258,648 		JBrowse link
G MIR1839 microRNA mir-1839 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:52,196,776...52,196,855
Ensembl chr 7:52,196,776...52,196,855 		JBrowse link
G MIR184 microRNA mir-184 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:48,345,017...48,345,099
Ensembl chr 7:48,345,017...48,345,099 		JBrowse link
G MIR9-3 microRNA mir-9-3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:54,948,452...54,948,532
Ensembl chr 7:54,948,447...54,948,536 		JBrowse link
G MNS1 meiosis specific nuclear structural 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:115,471,904...115,526,344
Ensembl chr 1:115,471,922...115,553,524 		JBrowse link
G MORF4L1 mortality factor 4 like 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:48,050,050...48,075,799
Ensembl chr 7:48,050,045...48,075,795 		JBrowse link
G MPI mannose phosphate isomerase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:58,657,960...58,666,803
Ensembl chr 7:58,657,662...58,666,929 		JBrowse link
G MRPL46 mitochondrial ribosomal protein L46 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:191,321,990...191,331,320
Ensembl chr 1:191,321,999...191,331,319 		JBrowse link
G MRPS11 mitochondrial ribosomal protein S11 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:191,310,547...191,321,951
Ensembl chr 1:191,309,198...191,321,648 		JBrowse link
G MTFMT mitochondrial methionyl-tRNA formyltransferase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:106,970,620...107,001,563
Ensembl chr 1:106,970,640...107,001,564 		JBrowse link
G MYEF2 myelin expression factor 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:123,582,836...123,642,879
Ensembl chr 1:123,600,908...123,638,236 		JBrowse link
G MYO1E myosin IE ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:112,677,545...112,902,005
Ensembl chr 1:112,677,821...112,901,993 		JBrowse link
G MYO5A myosin VA ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:119,165,751...119,398,591
Ensembl chr 1:119,165,942...119,394,725 		JBrowse link
G MYO5C myosin VC ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:119,407,298...119,536,443
Ensembl chr 1:119,407,351...119,536,419 		JBrowse link
G MYO9A myosin IXA ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:169,370,028...169,596,771
Ensembl chr 1:169,374,311...169,596,412 		JBrowse link
G MYZAP myocardial zonula adherens protein ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:114,287,622...114,386,418
Ensembl chr 1:114,287,627...114,386,427 		JBrowse link
G NDUFAF1 NADH:ubiquinone oxidoreductase complex assembly factor 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:129,968,480...129,993,534
Ensembl chr 1:129,968,502...130,009,391 		JBrowse link
G NEDD4 NEDD4 E3 ubiquitin protein ligase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:115,941,945...116,069,884
Ensembl chr 1:115,941,940...116,070,305 		JBrowse link
G NEIL1 nei like DNA glycosylase 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:58,261,761...58,269,001
Ensembl chr 7:58,261,769...58,268,522 		JBrowse link
G NEO1 neogenin 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:60,064,984...60,299,892
Ensembl chr 7:60,064,994...60,300,562 		JBrowse link
G NGRN neugrin, neurite outgrowth associated ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:55,824,625...55,835,464
Ensembl chr 7:55,827,375...55,835,459
Ensembl chr 7:55,827,375...55,835,459 		JBrowse link
G NMB neuromedin B ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:52,880,817...52,886,651
Ensembl chr 7:52,883,128...52,886,642 		JBrowse link
G NOP10 NOP10 ribonucleoprotein ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:80,161,024...80,162,299
Ensembl chr 7:80,161,096...80,164,328 		JBrowse link
G NOX5 NADPH oxidase 5 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:166,866,930...166,907,994
Ensembl chr 1:166,868,087...166,907,522 		JBrowse link
G NPTN neuroplastin ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:59,768,414...59,840,594
Ensembl chr 7:59,714,080...59,840,591 		JBrowse link
G NR2E3 nuclear receptor subfamily 2 group E member 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:169,358,662...169,373,175
Ensembl chr 1:169,360,729...169,366,087 		JBrowse link
G NRG4 neuregulin 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:56,179,713...56,311,408
Ensembl chr 7:56,167,959...56,311,270 		JBrowse link
G NSMCE2 NSE2 (MMS21) homolog, SMC5-SMC6 complex SUMO ligase ISO OMIM:210900 MouseDO NCBI chr 4:14,359,323...14,598,192
Ensembl chr 4:14,358,651...14,598,077 		JBrowse link
G NTRK3 neurotrophic receptor tyrosine kinase 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:191,535,262...191,941,675
Ensembl chr 1:191,535,301...191,925,327 		JBrowse link
G NUSAP1 nucleolar and spindle associated protein 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:129,992,797...130,065,641
Ensembl chr 1:129,992,804...130,065,605 		JBrowse link
G NUTM1 NUT midline carcinoma family member 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:80,149,764...80,159,497
Ensembl chr 7:80,149,619...80,160,620 		JBrowse link
G OAZ2 ornithine decarboxylase antizyme 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:107,325,225...107,338,475
Ensembl chr 1:107,325,191...107,339,309 		JBrowse link
G OIP5 Opa interacting protein 5 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:130,036,478...130,054,058
Ensembl chr 1:130,036,480...130,047,041 		JBrowse link
G ONECUT1 one cut homeobox 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:118,913,400...118,958,140
Ensembl chr 1:118,913,460...118,917,334 		JBrowse link
G PAK6 p21 (RAC1) activated kinase 6 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:131,039,313...131,077,420
Ensembl chr 1:131,039,318...131,076,631 		JBrowse link
G PAQR5 progestin and adipoQ receptor family member 5 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:167,154,636...167,234,835
Ensembl chr 1:167,154,660...167,231,039 		JBrowse link
G PARP16 poly(ADP-ribose) polymerase family member 16 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:163,292,778...163,320,047
Ensembl chr 1:163,292,784...163,320,021 		JBrowse link
G PCLAF PCNA clamp associated factor ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:107,659,509...107,669,477
Ensembl chr 1:107,659,509...107,670,954 		JBrowse link
G PDCD7 programmed cell death 7 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:163,157,881...163,172,528
Ensembl chr 1:163,156,925...163,170,228 		JBrowse link
G PDE8A phosphodiesterase 8A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:52,410,766...52,558,482
Ensembl chr 7:52,410,779...52,557,645 		JBrowse link
G PDIA3 protein disulfide isomerase family A member 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:127,786,174...127,814,096
Ensembl chr 1:127,785,772...127,814,196 		JBrowse link
G PEAK1 pseudopodium enriched atypical kinase 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:57,219,506...57,503,807
Ensembl chr 7:57,223,851...57,503,639 		JBrowse link
G PEX11A peroxisomal biogenesis factor 11 alpha ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:55,256,239...55,264,253
Ensembl chr 7:55,256,220...55,264,247 		JBrowse link
G PIAS1 protein inhibitor of activated STAT 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:165,957,114...166,087,242
Ensembl chr 1:165,957,132...166,087,239 		JBrowse link
G PIERCE2 piercer of microtubule wall 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:116,435,725...116,448,887
Ensembl chr 1:116,435,820...116,448,972 		JBrowse link
G PIF1 PIF1 5'-to-3' DNA helicase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:107,218,580...107,227,171
Ensembl chr 1:107,218,657...107,227,168 		JBrowse link
G PIGB phosphatidylinositol glycan anchor biosynthesis class B ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:116,492,910...116,519,673
Ensembl chr 1:116,491,886...116,532,934 		JBrowse link
G PKM pyruvate kinase M1/2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:60,971,807...61,032,780
Ensembl chr 7:60,975,667...61,004,316
Ensembl chr 7:60,975,667...61,004,316 		JBrowse link
G PLA2G4B phospholipase A2 group IVB ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:129,514,801...129,524,365
Ensembl chr 1:129,514,346...129,524,313 		JBrowse link
G PLA2G4D phospholipase A2 group IVD ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:129,251,495...129,270,952
Ensembl chr 1:129,247,159...129,271,028 		JBrowse link
G PLA2G4E phospholipase A2 group IVE ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:129,288,727...129,364,034
Ensembl chr 1:129,289,732...129,364,021 		JBrowse link
G PLA2G4F phospholipase A2 group IVF ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:129,200,568...129,218,417
Ensembl chr 1:129,201,069...129,217,008 		JBrowse link
G PLCB2 phospholipase C beta 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:131,005,408...131,031,864
Ensembl chr 1:131,005,408...131,028,689 		JBrowse link
G PLEKHO2 pleckstrin homology domain containing O2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:107,186,284...107,209,226
Ensembl chr 1:107,186,288...107,218,532 		JBrowse link
G PLIN1 perilipin 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:55,237,517...55,250,797
Ensembl chr 7:55,236,348...55,250,797 		JBrowse link
G PML PML nuclear body scaffold ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:59,405,044...59,450,155
Ensembl chr 7:59,405,053...59,450,105 		JBrowse link
G POLG DNA polymerase gamma, catalytic subunit ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:54,889,150...54,907,167
Ensembl chr 7:54,889,157...54,906,844 		JBrowse link
G POLR2M RNA polymerase II subunit M ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:114,256,457...114,266,862
Ensembl chr 1:114,256,460...114,266,875 		JBrowse link
G PPCDC phosphopantothenoylcysteine decarboxylase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:58,505,969...58,549,481
Ensembl chr 7:58,525,143...58,549,430 		JBrowse link
G PPIB peptidylprolyl isomerase B ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:107,886,663...107,893,155
Ensembl chr 1:107,886,658...107,893,253 		JBrowse link
G PPIP5K1 diphosphoinositol pentakisphosphate kinase 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:127,865,487...127,915,501
Ensembl chr 1:127,865,562...127,915,451 		JBrowse link
G PPP1R14D protein phosphatase 1 regulatory inhibitor subunit 14D ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:130,473,397...130,509,561
Ensembl chr 1:130,485,346...130,509,559 		JBrowse link
G PRC1 protein regulator of cytokinesis 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:55,869,749...55,900,640
Ensembl chr 7:55,869,821...55,900,978 		JBrowse link
G PRTG protogenin ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:116,132,269...116,275,678
Ensembl chr 1:116,132,165...116,268,631 		JBrowse link
G PSMA4 proteasome 20S subunit alpha 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:47,440,576...47,448,599
Ensembl chr 7:47,434,919...47,448,891 		JBrowse link
G PSTPIP1 proline-serine-threonine phosphatase interacting protein 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:57,100,212...57,145,278
Ensembl chr 7:57,102,757...57,146,751 		JBrowse link
G PTPN9 protein tyrosine phosphatase non-receptor type 9 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:58,078,176...58,164,411
Ensembl chr 7:58,078,389...58,164,405 		JBrowse link
G PYGO1 pygopus family PHD finger 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:116,293,361...116,326,753
Ensembl chr 1:116,292,642...116,322,375 		JBrowse link
G RAB11A RAB11A, member RAS oncogene family ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:163,858,254...163,887,741
Ensembl chr 1:163,858,123...163,891,527 		JBrowse link
G RAB27A RAB27A, member RAS oncogene family ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:116,532,816...116,606,477
Ensembl chr 1:116,532,974...116,606,474 		JBrowse link
G RAB8B RAB8B, member RAS oncogene family ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:108,772,851...108,840,222
Ensembl chr 1:108,772,851...108,840,227 		JBrowse link
G RAD51 RAD51 recombinase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:130,592,414...130,640,326
Ensembl chr 1:130,586,665...130,640,136 		JBrowse link
G RAMAC RNA guanine-7 methyltransferase activating subunit ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:51,948,190...51,953,605 JBrowse link
G RASGRF1 Ras protein specific guanine nucleotide releasing factor 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:48,121,415...48,246,749
Ensembl chr 7:48,121,419...48,246,749 		JBrowse link
G RASGRP1 RAS guanyl releasing protein 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:132,702,495...132,786,536
Ensembl chr 1:132,702,541...132,786,532 		JBrowse link
G RASL12 RAS like family 12 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:163,089,440...163,104,027
Ensembl chr 1:163,089,444...163,103,523 		JBrowse link
G RBPMS2 RNA binding protein, mRNA processing factor 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:107,259,302...107,296,527
Ensembl chr 1:107,259,351...107,296,524 		JBrowse link
G RCCD1 RCC1 domain containing 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:53,546,666...53,557,718
Ensembl chr 7:53,547,077...53,558,076 		JBrowse link
G RCN2 reticulocalbin 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:57,040,872...57,058,277
Ensembl chr 7:57,041,003...57,059,330 		JBrowse link
G REC114 REC114 meiotic recombination protein ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:59,833,229...59,941,452
Ensembl chr 7:59,838,480...59,941,418 		JBrowse link
G RFX7 regulatory factor X7 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:115,732,167...115,871,951
Ensembl chr 1:115,734,347...115,871,084 		JBrowse link
G RHCG Rh family C glycoprotein ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:55,046,244...55,071,504
Ensembl chr 7:55,046,245...55,071,475 		JBrowse link
G RHOV ras homolog family member V ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:130,443,602...130,445,664
Ensembl chr 1:130,443,579...130,445,661 		JBrowse link
G RLBP1 retinaldehyde binding protein 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:54,783,965...54,800,008
Ensembl chr 7:54,776,113...54,889,014 		JBrowse link
G RMDN3 regulator of microtubule dynamics 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:130,574,283...130,591,580
Ensembl chr 1:130,574,237...130,615,722 		JBrowse link
G RNF111 ring finger protein 111 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:112,961,466...113,059,606
Ensembl chr 1:112,961,468...113,059,600 		JBrowse link
G RORA RAR related orphan receptor A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:110,719,004...111,482,807
Ensembl chr 1:111,375,457...111,477,703 		JBrowse link
G RPAP1 RNA polymerase II associated protein 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:129,838,556...129,857,038
Ensembl chr 1:129,838,585...129,857,041 		JBrowse link
G RPL4 ribosomal protein L4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:164,476,269...164,481,765
Ensembl chr 1:164,475,357...164,481,534 		JBrowse link
G RPLP1 ribosomal protein lateral stalk subunit P1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:167,296,084...167,298,264
Ensembl chr 1:167,296,094...167,298,263 		JBrowse link
G RPP25 ribonuclease P and MRP subunit p25 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:58,605,850...58,610,086
Ensembl chr 7:58,608,543...58,610,078 		JBrowse link
G RPS17 ribosomal protein S17 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:52,386,342...52,389,003
Ensembl chr 7:52,386,036...52,390,599 		JBrowse link
G RPS27L ribosomal protein S27 like ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:108,881,330...108,886,334
Ensembl chr 1:108,881,552...108,890,283 		JBrowse link
G RPUSD2 RNA pseudouridine synthase domain containing 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:130,741,191...130,746,974
Ensembl chr 1:130,738,188...130,746,959 		JBrowse link
G RSL24D1 ribosomal L24 domain containing 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:116,612,335...116,629,161
Ensembl chr 1:116,612,330...116,629,141 		JBrowse link
G RTF1 RTF1 homolog, Paf1/RNA polymerase II complex component ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:129,886,798...129,942,845
Ensembl chr 1:129,886,800...129,943,181 		JBrowse link
G RYR3 ryanodine receptor 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:80,640,030...81,208,576
Ensembl chr 7:80,640,123...81,208,491 		JBrowse link
G SAXO2 stabilizer of axonemal microtubules 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:50,977,040...50,999,026
Ensembl chr 7:50,976,969...50,999,121 		JBrowse link
G SCAMP2 secretory carrier membrane protein 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:58,672,638...58,699,145
Ensembl chr 7:58,672,664...58,699,142 		JBrowse link
G SCAMP5 secretory carrier membrane protein 5 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:58,550,190...58,577,894
Ensembl chr 7:58,550,198...58,559,310 		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 chr 7:56,583,247...57,012,312
Ensembl chr 7:56,583,160...57,011,914 		JBrowse link
G SCG3 secretogranin III ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:120,045,302...120,090,035
Ensembl chr 1:120,045,309...120,138,260 		JBrowse link
G SCG5 secretogranin V ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:136,525,920...136,590,021
Ensembl chr 1:136,525,944...136,593,583 		JBrowse link
G SEC11A SEC11 homolog A, signal peptidase complex subunit ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:52,829,267...52,872,008
Ensembl chr 7:52,829,305...52,875,623 		JBrowse link
G SECISBP2L SECIS binding protein 2 like ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:122,633,628...122,688,611
Ensembl chr 1:122,633,736...122,688,603 		JBrowse link
G SEMA4B semaphorin 4B ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:55,752,854...55,793,982
Ensembl chr 7:55,753,097...55,793,980 		JBrowse link
G SEMA6D semaphorin 6D ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:123,987,528...124,586,062
Ensembl chr 1:123,987,528...124,043,986 		JBrowse link
G SEMA7A semaphorin 7A (JohnMiltonHagen blood group) ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:59,094,919...59,119,534
Ensembl chr 7:59,094,932...59,119,532 		JBrowse link
G SENP8 SUMO peptidase family member, NEDD8 specific ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:169,596,816...169,615,498
Ensembl chr 1:169,596,200...169,616,138 		JBrowse link
G SERF2 small EDRK-rich factor 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:127,765,760...127,767,518
Ensembl chr 1:127,761,345...127,767,520 		JBrowse link
G SERINC4 serine incorporator 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:127,760,374...127,764,787
Ensembl chr 1:127,760,175...127,765,798 		JBrowse link
G SH2D7 SH2 domain containing 7 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:47,812,996...47,824,926
Ensembl chr 7:47,813,512...47,824,760 		JBrowse link
G SH3GL3 SH3 domain containing GRB2 like 3, endophilin A3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:51,381,091...51,514,253
Ensembl chr 7:51,381,097...51,514,225 		JBrowse link
G SHC4 SHC adaptor protein 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:122,722,745...122,871,424
Ensembl chr 1:122,725,904...122,871,426 		JBrowse link
G SHF Src homology 2 domain containing F ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:126,549,736...126,570,657
Ensembl chr 1:126,549,747...126,570,859 		JBrowse link
G SIN3A SIN3 transcription regulator family member A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:58,171,821...58,246,126
Ensembl chr 7:58,176,167...58,245,971 		JBrowse link
G SKIC8 SKI8 subunit of superkiller complex ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:47,641,103...47,661,353
Ensembl chr 7:47,641,162...47,659,866 		JBrowse link
G SKOR1 SKI family transcriptional corepressor 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:165,753,522...165,766,227
Ensembl chr 1:165,751,321...165,762,299 		JBrowse link
G SLC12A1 solute carrier family 12 member 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:123,481,892...123,571,655
Ensembl chr 1:123,481,369...123,571,630 		JBrowse link
G SLC12A6 solute carrier family 12 member 6 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:80,164,788...80,266,335
Ensembl chr 7:80,164,911...80,268,323 		JBrowse link
G SLC24A1 solute carrier family 24 member 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:163,603,223...163,662,071
Ensembl chr 1:163,604,594...163,658,318 		JBrowse link
G SLC24A5 solute carrier family 24 member 5 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:123,635,077...123,657,205
Ensembl chr 1:123,635,043...123,656,736 		JBrowse link
G SLC27A2 solute carrier family 27 member 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:121,530,449...121,578,994
Ensembl chr 1:121,526,295...121,579,120 		JBrowse link
G SLC28A1 solute carrier family 28 member 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:52,606,428...52,652,928
Ensembl chr 7:52,605,289...52,652,876 		JBrowse link
G SLC28A2 solute carrier family 28 member 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:126,472,500...126,511,207
Ensembl chr 1:126,472,525...126,511,095 		JBrowse link
G SLC30A4 solute carrier family 30 member 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:126,236,971...126,268,102
Ensembl chr 1:126,237,032...126,268,094 		JBrowse link
G SLC51B SLC51 subunit beta ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:163,081,145...163,089,491
Ensembl chr 1:163,081,180...163,089,488 		JBrowse link
G SLTM SAFB like transcription modulator ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:113,085,095...113,140,604
Ensembl chr 1:113,084,008...113,136,599 		JBrowse link
G SMAD3 SMAD family member 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:164,998,457...165,124,455
Ensembl chr 1:164,998,103...165,124,449 		JBrowse link
G SMAD6 SMAD family member 6 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:164,652,602...164,735,084
Ensembl chr 1:164,656,887...164,735,704 		JBrowse link
G SNAP23 synaptosome associated protein 23 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:128,849,465...128,888,972
Ensembl chr 1:128,847,931...128,888,947 		JBrowse link
G SNAPC5 small nuclear RNA activating complex polypeptide 5 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:164,459,111...164,475,053
Ensembl chr 1:164,467,599...164,475,011 		JBrowse link
G SNUPN snurportin 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:58,038,917...58,065,972
Ensembl chr 7:58,038,995...58,071,243 		JBrowse link
G SNX1 sorting nexin 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:107,903,954...107,949,920
Ensembl chr 1:107,903,741...107,949,923 		JBrowse link
G SNX22 sorting nexin 22 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:107,891,698...107,897,561
Ensembl chr 1:107,891,699...107,897,529 		JBrowse link
G SNX33 sorting nexin 33 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:57,999,447...58,015,598
Ensembl chr 7:57,999,459...58,014,441 		JBrowse link
G SORD sorbitol dehydrogenase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:126,659,198...126,701,084
Ensembl chr 1:126,655,156...126,701,138 		JBrowse link
G SPESP1 sperm equatorial segment protein 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:166,818,174...166,839,717
Ensembl chr 1:166,818,037...166,841,693 		JBrowse link
G SPG11 SPG11 vesicle trafficking associated, spatacsin ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:126,890,464...126,998,014
Ensembl chr 1:126,902,186...127,003,397
Ensembl chr 1:126,902,186...127,003,397 		JBrowse link
G SPG21 SPG21 abhydrolase domain containing, maspardin ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:107,011,731...107,036,353
Ensembl chr 1:107,011,547...107,036,347 		JBrowse link
G SPINT1 serine peptidase inhibitor, Kunitz type 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:130,458,909...130,473,791
Ensembl chr 1:130,458,909...130,473,783 		JBrowse link
G SPPL2A signal peptide peptidase like 2A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:121,067,638...121,134,896
Ensembl chr 1:121,067,454...121,134,888 		JBrowse link
G SPRED1 sprouty related EVH1 domain containing 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:132,903,103...133,016,725
Ensembl chr 1:132,902,304...133,015,742 		JBrowse link
G SPTBN5 spectrin beta, non-erythrocytic 5 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:129,461,598...129,514,380
Ensembl chr 1:129,462,568...129,511,568 		JBrowse link
G SQOR sulfide quinone oxidoreductase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:126,078,335...126,137,407
Ensembl chr 1:126,076,161...126,137,062 		JBrowse link
G SRP14 signal recognition particle 14 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:131,241,561...131,247,693
Ensembl chr 1:131,241,612...131,253,411 		JBrowse link
G STARD5 StAR related lipid transfer domain containing 5 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:50,107,033...50,118,652
Ensembl chr 7:50,107,035...50,118,629 		JBrowse link
G STARD9 StAR related lipid transfer domain containing 9 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:128,656,375...128,808,951 JBrowse link
G STOML1 stomatin like 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:59,448,500...59,461,208
Ensembl chr 7:59,452,176...59,461,206 		JBrowse link
G STRA6 signaling receptor and transporter of retinol STRA6 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:59,317,930...59,347,274
Ensembl chr 7:59,318,011...59,347,266 		JBrowse link
G STRC stereocilin ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:127,830,759...127,852,392
Ensembl chr 1:127,835,622...127,852,339 		JBrowse link
G TBC1D21 TBC1 domain family member 21 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:59,535,023...59,549,720
Ensembl chr 7:59,535,593...59,548,888 		JBrowse link
G TBC1D2B TBC1 domain family member 2B ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:47,839,380...47,927,287
Ensembl chr 7:47,839,392...47,929,092 		JBrowse link
G TCF12 transcription factor 12 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:114,682,299...115,056,363
Ensembl chr 1:114,682,303...115,056,262 		JBrowse link
G TERB2 telomere repeat binding bouquet formation protein 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:126,738,520...126,767,948
Ensembl chr 1:126,738,663...126,768,126 		JBrowse link
G TEX9 testis expressed 9 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:115,526,738...115,607,970
Ensembl chr 1:115,526,740...115,607,894 		JBrowse link
G TGM5 transglutaminase 5 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:128,191,647...128,217,249
Ensembl chr 1:128,191,630...128,217,656 		JBrowse link
G TGM7 transglutaminase 7 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:128,153,998...128,185,105
Ensembl chr 1:128,159,562...128,185,274 		JBrowse link
G THBS1 thrombospondin 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:131,728,781...131,746,098
Ensembl chr 1:131,728,784...131,746,115 		JBrowse link
G THSD4 thrombospondin type 1 domain containing 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:168,751,403...169,328,559
Ensembl chr 1:168,751,582...169,323,977 		JBrowse link
G TICRR TOPBP1 interacting checkpoint and replication regulator ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:55,142,957...55,200,259
Ensembl chr 7:55,143,240...55,200,640 		JBrowse link
G TIPIN TIMELESS interacting protein ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:164,349,196...164,369,297
Ensembl chr 1:164,350,705...164,369,223 		JBrowse link
G TLE3 TLE family member 3, transcriptional corepressor ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:167,808,508...167,855,913
Ensembl chr 1:167,808,510...167,855,911 		JBrowse link
G TLN2 talin 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:109,208,663...109,680,663
Ensembl chr 1:109,208,672...109,584,727 		JBrowse link
G TLNRD1 talin rod domain containing 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:49,833,640...49,835,735
Ensembl chr 7:49,833,210...49,837,331 		JBrowse link
G TM6SF1 transmembrane 6 superfamily member 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:51,815,109...51,844,938
Ensembl chr 7:51,815,530...51,845,163 		JBrowse link
G TMC3 transmembrane channel like 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:50,128,522...50,184,061
Ensembl chr 7:50,124,860...50,184,089 		JBrowse link
G TMCO5A transmembrane and coiled-coil domains 5A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:133,291,660...133,383,696
Ensembl chr 1:133,285,037...133,302,309 		JBrowse link
G TMED3 transmembrane p24 trafficking protein 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:48,431,629...48,442,247
Ensembl chr 7:48,431,375...48,442,645 		JBrowse link
G TMEM202 transmembrane protein 202 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:60,853,877...60,865,688
Ensembl chr 7:60,854,316...60,885,284 		JBrowse link
G TMEM266 transmembrane protein 266 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:56,311,510...56,440,650
Ensembl chr 7:56,311,548...56,440,328 		JBrowse link
G TMEM62 transmembrane protein 62 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:128,269,590...128,306,128
Ensembl chr 1:128,269,599...128,306,056 		JBrowse link
G TMEM87A transmembrane protein 87A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:129,098,388...129,142,168
Ensembl chr 1:129,098,388...129,142,161 		JBrowse link
G TMOD2 tropomodulin 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:119,956,583...120,009,372
Ensembl chr 1:119,956,588...120,009,372 		JBrowse link
G TMOD3 tropomodulin 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:119,864,878...119,948,795
Ensembl chr 1:119,862,244...119,948,880 		JBrowse link
G TNFAIP8L3 TNF alpha induced protein 8 like 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:120,807,533...120,849,830
Ensembl chr 1:120,807,392...120,849,826 		JBrowse link
G TP53BP1 tumor protein p53 binding protein 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:127,958,500...128,032,370
Ensembl chr 1:127,959,213...128,028,712 		JBrowse link
G TPM1 tropomyosin 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:108,986,981...109,016,090
Ensembl chr 1:108,986,986...109,020,035 		JBrowse link
G TRIM69 tripartite motif containing 69 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:126,775,856...126,788,628
Ensembl chr 1:126,775,217...126,814,508 		JBrowse link
G TRIP4 thyroid hormone receptor interactor 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:107,588,778...107,654,679
Ensembl chr 1:107,588,492...107,654,639 		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 chr 1:121,146,093...121,250,227
Ensembl chr 1:121,146,117...121,250,224 		JBrowse link
G TSPAN3 tetraspanin 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:57,162,080...57,187,515
Ensembl chr 7:57,159,465...57,187,446 		JBrowse link
G TTBK2 tau tubulin kinase 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:128,489,676...128,640,094
Ensembl chr 1:128,489,744...128,635,511 		JBrowse link
G TUBGCP4 tubulin gamma complex component 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:128,029,393...128,084,039
Ensembl chr 1:128,029,406...128,083,958 		JBrowse link
G TYRO3 TYRO3 protein tyrosine kinase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:129,811,540...129,829,395
Ensembl chr 1:129,811,544...129,829,014 		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 chr 1:168,353,655...168,453,175
Ensembl chr 1:168,350,557...168,453,344 		JBrowse link
G UBAP1L ubiquitin associated protein 1 like ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:163,133,230...163,153,941
Ensembl chr 1:163,133,053...163,153,303 		JBrowse link
G UBE2Q2 ubiquitin conjugating enzyme E2 Q2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:56,084,017...56,144,915
Ensembl chr 7:56,084,072...56,144,916 		JBrowse link
G UBL7 ubiquitin like 7 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:59,070,666...59,084,119
Ensembl chr 7:59,070,728...59,084,112 		JBrowse link
G UBR1 ubiquitin protein ligase E3 component n-recognin 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:128,319,311...128,474,330
Ensembl chr 1:128,319,311...128,474,302 		JBrowse link
G ULK3 unc-51 like kinase 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:58,699,989...58,707,191
Ensembl chr 7:58,699,984...58,707,187 		JBrowse link
G UNC13C unc-13 homolog C ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:117,163,115...117,765,125
Ensembl chr 1:117,166,300...117,723,335 		JBrowse link
G UNC45A unc-45 myosin chaperone A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:53,530,914...53,545,960
Ensembl chr 7:53,522,474...53,545,960 		JBrowse link
G UNG uracil DNA glycosylase ISO CTD Direct Evidence: marker/mechanism CTD PMID:2106500 NCBI chr14:41,746,498...41,757,841
Ensembl chr14:41,746,502...41,757,807 		JBrowse link
G USP3 ubiquitin specific peptidase 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:108,414,358...108,515,611
Ensembl chr 1:108,415,703...108,515,447 		JBrowse link
G USP50 ubiquitin specific peptidase 50 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:121,272,977...121,307,029
Ensembl chr 1:121,273,043...121,307,075 		JBrowse link
G USP8 ubiquitin specific peptidase 8 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:121,306,031...121,376,154
Ensembl chr 1:121,306,032...121,413,223 		JBrowse link
G VPS13C vacuolar protein sorting 13 homolog C ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:109,931,269...110,105,519
Ensembl chr 1:109,931,264...110,104,241 		JBrowse link
G VPS18 VPS18 core subunit of CORVET and HOPS complexes ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:130,409,121...130,420,467
Ensembl chr 1:130,409,123...130,420,450 		JBrowse link
G VPS39 VPS39 subunit of HOPS complex ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:129,144,338...129,198,760
Ensembl chr 1:129,144,344...129,198,761 		JBrowse link
G WDR72 WD repeat domain 72 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:117,946,022...118,161,827
Ensembl chr 1:117,946,048...118,160,286 		JBrowse link
G WDR73 WD repeat domain 73 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:52,887,468...52,904,147
Ensembl chr 7:52,887,530...52,904,146 		JBrowse link
G WDR76 WD repeat domain 76 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:127,651,765...127,741,357
Ensembl chr 1:127,654,178...127,741,354 		JBrowse link
G WDR93 WD repeat domain 93 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:55,264,240...55,316,396
Ensembl chr 7:55,264,275...55,316,397 		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 chr 7:52,108,867...52,140,333
Ensembl chr 7:52,108,869...52,140,203 		JBrowse link
G ZFAND6 zinc finger AN1-type containing 6 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:48,967,402...49,034,711
Ensembl chr 7:48,967,579...49,034,703 		JBrowse link
G ZFYVE19 zinc finger FYVE-type containing 19 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:130,510,718...130,517,943
Ensembl chr 1:130,510,719...130,517,216 		JBrowse link
G ZNF106 zinc finger protein 106 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:128,893,965...128,957,334
Ensembl chr 1:128,893,971...128,957,305 		JBrowse link
G ZNF280D zinc finger protein 280D ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:115,220,018...115,345,930
Ensembl chr 1:115,220,050...115,345,923 		JBrowse link
G ZNF592 zinc finger protein 592 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:52,731,690...52,793,950
Ensembl chr 7:52,731,224...52,793,927 		JBrowse link
G ZNF609 zinc finger protein 609 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:107,338,608...107,583,347
Ensembl chr 1:107,340,542...107,583,273 		JBrowse link
G ZNF710 zinc finger protein 710 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:55,572,448...55,654,133
Ensembl chr 7:55,575,336...55,652,928 		JBrowse link
G ZNF770 zinc finger protein 770 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:136,121,105...136,129,838
Ensembl chr 1:136,121,111...136,130,061 		JBrowse link
G ZNF774 zinc finger protein 774 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:52,985,669...52,994,797
Ensembl chr 7:52,958,106...53,129,958 		JBrowse link
G ZSCAN2 zinc finger and SCAN domain containing 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:52,910,839...52,958,007
Ensembl chr 7:52,910,849...52,957,983 		JBrowse link
G ZSCAN29 zinc finger and SCAN domain containing 29 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:128,084,065...128,097,517
Ensembl chr 1:128,084,067...128,094,617 		JBrowse link
G ZWILCH zwilch kinetochore protein ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:164,481,784...164,526,843
Ensembl chr 1:164,481,964...164,527,223 		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 chr  X:110,249,010...110,311,503
Ensembl chr  X:110,249,010...110,303,017 		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 chr 5:63,746,326...63,751,469
Ensembl chr 5:63,745,476...63,751,469 		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 chr 5:45,750,968...45,763,421
Ensembl chr 5:45,751,292...45,763,415 		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:25741868 PMID:28150392 NCBI chr13:27,966,586...28,041,121
Ensembl chr13:27,966,586...28,041,451 		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 chr 1:138,619,701...139,015,681
Ensembl chr 1:138,619,706...139,015,473 		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 chr 1:139,451,080...139,491,514
Ensembl chr 1:139,451,049...139,491,511 		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 chr 1:139,191,407...139,240,206
Ensembl chr 1:139,191,572...139,240,185 		JBrowse link
G CERS3 ceramide synthase 3 ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chr 1:139,027,604...139,154,830
Ensembl chr 1:139,030,642...139,136,874 		JBrowse link
G CHSY1 chondroitin sulfate synthase 1 ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chr 1:139,730,703...139,804,458
Ensembl chr 1:139,730,721...139,804,657 		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 chr 1:137,383,623...137,691,038
Ensembl chr 1:137,387,825...137,691,058 		JBrowse link
G LINS1 lines homolog 1 ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chr 1:139,168,859...139,191,238
Ensembl chr 1:139,168,785...139,191,163 		JBrowse link
G LRRC28 leucine rich repeat containing 28 ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chr 1:137,998,540...138,194,848
Ensembl chr 1:137,998,554...138,203,466 		JBrowse link
G LRRK1 leucine rich repeat kinase 1 ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chr 1:139,494,126...139,624,609
Ensembl chr 1:139,494,121...139,624,604 		JBrowse link
G LYSMD4 LysM domain containing 4 ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chr 1:138,560,985...138,567,570
Ensembl chr 1:138,560,995...138,567,562 		JBrowse link
G MEF2A myocyte enhancer factor 2A ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chr 1:138,398,270...138,508,639
Ensembl chr 1:138,341,158...138,511,314 		JBrowse link
G PGPEP1L pyroglutamyl-peptidase I like ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chr 1:137,307,784...137,384,465
Ensembl chr 1:137,308,438...137,380,864 		JBrowse link
G SYNM synemin ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chr 1:137,855,644...137,883,914 JBrowse link
G TTC23 tetratricopeptide repeat domain 23 ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chr 1:137,870,897...137,997,201
Ensembl chr 1:137,886,405...137,997,131 		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 chr12:42,793,755...42,808,937
Ensembl chr12:42,795,409...42,808,897 		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 chr15:130,784,567...130,940,497
Ensembl chr15:130,787,864...130,939,783 		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 chr 2:73,266,310...73,286,774
Ensembl chr 2:73,266,258...73,286,773 		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 chr 4:111,580,186...111,632,390
Ensembl chr 4:111,579,663...111,634,266 		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 chr 4:101,918,891...102,032,280 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 chr12:48,146,364...48,157,436
Ensembl chr12:48,146,417...48,161,770 		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 chr11:75,537,027...75,547,711
Ensembl chr11:75,537,036...75,547,716 		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 chr 4:35,368,788...35,565,394
Ensembl chr 4:35,371,136...35,564,919 		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 chr 2:140,515,239...140,532,164
Ensembl chr 2:140,515,253...140,531,857 		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 chr14:22,798,146...22,852,818
Ensembl chr14:22,798,192...22,853,547 		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 chr14:60,412,651...60,415,687
Ensembl chr14:60,412,812...60,415,674 		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 chr 8:2,089,645...2,119,076
Ensembl chr 8:2,089,670...2,122,685 		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 chr 1:251,650,151...251,758,538
Ensembl chr 1:251,650,710...251,756,608 		JBrowse link
G PRG4 proteoglycan 4 ISO ClinVar Annotator: match by term: Pena Shokeir syndrome, type 1 ClinVar PMID:25741868 PMID:31680123 NCBI chr 9:127,463,875...127,481,770 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:23919265 More... NCBI chr 6:47,339,759...47,458,457
Ensembl chr 6:47,343,768...47,458,458 		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 chr 2:15,334,015...15,342,531
Ensembl chr 2:15,334,001...15,347,770 		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 chr14:60,412,651...60,415,687
Ensembl chr14:60,412,812...60,415,674 		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
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 chr 7:19,351,485...19,375,515
Ensembl chr 7:19,351,361...19,379,098 		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 chr 2:15,390,547...15,401,230
Ensembl chr 2:15,390,415...15,401,227 		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 chr17:5,712,048...5,749,811
Ensembl chr17:5,712,058...5,758,821 		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 chr14:74,975,163...75,109,283
Ensembl chr14:74,975,165...75,083,634 		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 chr10:19,971,516...20,039,680
Ensembl chr10:19,975,192...20,039,623 		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 chr  X:124,318,874...124,357,653
Ensembl chr  X:124,301,713...124,357,653 		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 chr 7:80,447,337...80,640,120
Ensembl chr 7:80,447,524...80,640,119 		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 chr 8:101,737,084...101,937,212
Ensembl chr 8:101,737,598...101,937,256 		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 chr15:133,040,310...133,047,839
Ensembl chr15:133,040,340...133,048,829 		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 chr12:20,141,222...20,157,341
Ensembl chr12:20,141,641...20,157,044 		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 chr 2:15,401,150...15,606,626
Ensembl chr 2:15,401,150...15,606,590 		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 chr 2:15,342,614...15,370,623
Ensembl chr 2:15,337,743...15,383,120 		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 chr 8:2,089,645...2,119,076
Ensembl chr 8:2,089,670...2,122,685 		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 chr 3:68,523,859...68,530,804
Ensembl chr 3:68,523,974...68,531,064 		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
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 chr 3:22,654,351...22,684,246
Ensembl chr 3:22,657,766...22,684,241 		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 chr 1:238,536,341...238,541,756
Ensembl chr 1:238,536,345...238,541,333 		JBrowse link
G FBLN1 fibulin 1 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:31680123 NCBI chr 5:3,839,498...3,927,178
Ensembl chr 5:3,839,502...3,927,183 		JBrowse link
G FBN2 fibrillin 2 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25558065 NCBI chr 2:131,150,665...131,370,241
Ensembl chr 2:131,152,127...131,370,881 		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 chr13:173,634,401...173,909,646
Ensembl chr13:173,634,454...173,914,756 		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 chr14:40,151,415...40,218,183
Ensembl chr14:40,146,472...40,218,107 		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 chr17:32,040,183...32,044,396
Ensembl chr17:32,040,235...32,046,105 		JBrowse link
G GLDN gliomedin ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:31680123 NCBI chr 1:120,322,417...120,399,059
Ensembl chr 1:120,322,432...120,399,041 		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 chr 5:67,445,839...67,540,488
Ensembl chr 5:67,445,838...67,540,485 		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 chr 6:44,655,621...44,663,874
Ensembl chr 6:44,655,619...44,663,234 		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 chr 2:15,616,137...15,672,876
Ensembl chr 2:15,616,131...15,672,874 		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 chr 2:15,270,783...15,315,459
Ensembl chr 2:15,270,789...15,315,477 		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 chr 4:106,880,617...107,120,043
Ensembl chr 4:106,882,435...107,120,035 		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 chr 1:251,650,151...251,758,538
Ensembl chr 1:251,650,710...251,756,608 		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 chr 2:15,247,679...15,269,714
Ensembl chr 2:15,247,340...15,270,104 		JBrowse link
G NAGA alpha-N-acetylgalactosaminidase ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:31680123 NCBI chr 5:6,580,141...6,587,550
Ensembl chr 5:6,571,020...6,588,055 		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 chr11:69,710,355...70,023,020
Ensembl chr11:69,710,364...70,022,727 		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 chr12:43,487,098...43,754,205
Ensembl chr12:43,489,813...43,753,969 		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 chr 2:15,315,283...15,336,785
Ensembl chr 2:15,315,282...15,334,820 		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 chr 2:15,380,297...15,389,893
Ensembl chr 2:15,381,707...15,389,887 		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 chr 6:97,644,115...97,945,693
Ensembl chr 6:97,643,978...97,944,456 		JBrowse link
G PRG4 proteoglycan 4 ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:25741868 PMID:31680123 NCBI chr 9:127,463,875...127,481,770 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 chr 5:73,707,026...73,826,529
Ensembl chr 5:73,707,050...73,826,430 		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 chr 2:15,185,482...15,191,189
Ensembl chr 2:15,166,306...15,193,047 		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 chr14:2,803,840...3,035,384
Ensembl chr14:2,804,061...3,035,296 		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:23919265 More... NCBI chr 6:47,339,759...47,458,457
Ensembl chr 6:47,343,768...47,458,458 		JBrowse link
G RYR3 ryanodine receptor 3 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:31680123 NCBI chr 7:80,640,030...81,208,576
Ensembl chr 7:80,640,123...81,208,491 		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 chr12:15,001,356...15,048,092
Ensembl chr12:15,002,175...15,047,582 		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 chr13:23,336,143...23,424,755
Ensembl chr13:23,336,153...23,424,755 		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 chr 5:16,977,468...17,173,831
Ensembl chr 5:16,977,700...17,169,543 		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 chr 1:94,295,332...94,666,560
Ensembl chr 1:94,295,851...94,663,017 		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 chr 2:15,194,028...15,202,936
Ensembl chr 2:15,194,017...15,210,425 		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 chr15:115,809,152...116,760,976
Ensembl chr15:115,809,187...116,761,791 		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 chr 2:15,227,850...15,245,679
Ensembl chr 2:15,227,881...15,245,677 		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 chr 1:251,367,401...251,571,799
Ensembl chr 1:251,368,845...251,571,415 		JBrowse link
G TMPO thymopoietin ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:31680123 NCBI chr 5:85,317,648...85,346,528
Ensembl chr 5:85,315,290...85,346,538 		JBrowse link
G TXN thioredoxin ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:28492532 NCBI chr 1:251,264,180...251,278,000
Ensembl chr 1:251,263,175...251,277,988 		JBrowse link
G TXNDC8 thioredoxin domain containing 8 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:28492532 NCBI chr 1:251,312,120...251,340,761
Ensembl chr 1:251,311,119...251,340,988 		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 chr 3:55,667,821...55,676,995
Ensembl chr 3:55,667,826...55,676,978 		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 chr 6:72,256,865...72,514,256
Ensembl chr 6:72,256,828...72,510,058 		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 chr15:7,498,879...7,631,347
Ensembl chr15:7,499,026...7,632,655 		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 chr 6:149,745,375...149,971,853
Ensembl chr 6:149,748,036...149,972,168 		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 chr 8:2,089,645...2,119,076
Ensembl chr 8:2,089,670...2,122,685 		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 chr12:51,562,455...51,603,095
Ensembl chr12:51,562,440...51,601,968 		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 chr12:51,602,228...51,868,180
Ensembl chr12:51,602,226...51,858,206 		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, sub-family B (MDR/TAP), member 1 ISO mRNA:increased expression:placenta RGD PMID:16225763 RGD:2306659 NCBI chr 9:93,049,955...93,146,469 JBrowse link
G ACE angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 ISO mRNA:increased expression:kidney (rat) RGD PMID:24847689 RGD:12879387 NCBI chr12:15,394,487...15,414,609
Ensembl chr12:15,394,487...15,414,703 		JBrowse link
G ACTA2 actin alpha 2, smooth muscle ISO CTD Direct Evidence: marker/mechanism CTD PMID:28157488 NCBI chr14:100,868,145...100,886,732
Ensembl chr14:100,867,733...100,886,713 		JBrowse link
G ADIPOQ adiponectin, C1Q and collagen domain containing treatment ISO RGD PMID:23533720 RGD:8695947 NCBI chr13:124,633,906...124,646,237
Ensembl chr13:124,633,685...124,646,646 		JBrowse link
G ADIPOR2 adiponectin receptor 2 treatment ISO RGD PMID:23533720 RGD:8695947 NCBI chr 5:68,755,789...68,807,247
Ensembl chr 5:68,755,811...68,807,235 		JBrowse link
G AGT angiotensinogen ISO CTD Direct Evidence: marker/mechanism
mRNA,protein:increased expression:kidney,urine:		 RGD
CTD		 PMID:17537837 PMID:20530295 PMID:26270574 RGD:11538508 RGD:13432363 NCBI chr14:59,643,030...59,656,835
Ensembl chr14:59,643,292...59,656,833 		JBrowse link
G AGTR1 angiotensin II receptor type 1 ISO RGD PMID:21303825 RGD:5129179 NCBI chr13:88,934,873...88,980,317
Ensembl chr13:88,934,868...88,983,105 		JBrowse link
G AGTR2 angiotensin II receptor type 2 ISO RGD PMID:21303825 RGD:5129179 NCBI chr  X:95,267,709...95,272,237
Ensembl chr  X:95,269,300...95,270,388 		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 chr14:107,174,062...107,221,373
Ensembl chr14:107,170,689...107,221,215 		JBrowse link
G ANAPC2 anaphase promoting complex subunit 2 ISO protein:increased expression:serum (human) RGD PMID:25724728 RGD:14696679
G APOE apolipoprotein E ISO mRNA:increased expression:adrenal gland (rat) RGD PMID:19923365 RGD:4891147 NCBI chr 6:51,373,113...51,375,333
Ensembl chr 6:51,372,292...51,375,330 		JBrowse link
G APOH apolipoprotein H ISO RGD PMID:24642748 RGD:10054118 NCBI chr12:12,827,195...12,839,172
Ensembl chr12:12,827,201...12,839,175 		JBrowse link
G ARG1 arginase 1 ISO RNA:increased expression:thoracic aorta: RGD PMID:29741931 RGD:13792602 NCBI chr 1:32,006,035...32,028,983
Ensembl chr 1:32,006,046...32,028,988 		JBrowse link
G ATP5F1A ATP synthase F1 subunit alpha ISO protein:increased expression:retroperitoneal fat pad (rat) RGD PMID:26633942 RGD:13703049 NCBI chr 1:95,738,789...95,750,835
Ensembl chr 1:95,733,090...95,750,841 		JBrowse link
G ATP5F1B ATP synthase F1 subunit beta ISO protein:decreased expression:liver (rat) RGD PMID:26342040 RGD:13782135 NCBI chr 5:21,984,750...21,992,393
Ensembl chr 5:21,984,580...21,992,407 		JBrowse link
G BAX BCL2 associated X, apoptosis regulator treatment ISO RGD PMID:22932950 RGD:10054114 NCBI chr 6:54,222,341...54,228,150
Ensembl chr 6:54,222,336...54,228,140 		JBrowse link
G BCL2 BCL2 apoptosis regulator treatment ISO RGD PMID:22932950 RGD:10054114 NCBI chr 1:158,337,403...158,518,214
Ensembl chr 1:158,337,522...158,518,879 		JBrowse link
G BMP4 bone morphogenetic protein 4 ISO RGD PMID:22710965 RGD:9068402 NCBI chr 1:183,415,989...183,422,888
Ensembl chr 1:183,416,146...183,422,637 		JBrowse link
G CACNA1C calcium voltage-gated channel subunit alpha1 C ISO protein:decreased expression:pancreas (rat) RGD PMID:20873977 RGD:152985538 NCBI chr 5:69,016,954...69,448,428
Ensembl chr 5:69,275,176...69,448,430 		JBrowse link
G CACNA1D calcium voltage-gated channel subunit alpha1 D ISO protein:decreased expression:pancreas (rat) RGD PMID:20873977 RGD:152985538 NCBI chr13:35,568,534...35,911,483
Ensembl chr13:35,436,519...35,909,662 		JBrowse link
G CAD carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase ISO RGD PMID:3973436 RGD:2303532 NCBI chr 3:111,887,017...111,914,511
Ensembl chr 3:111,887,020...111,914,492 		JBrowse link
G CASP3 caspase 3 treatment ISO RGD PMID:22932950 RGD:10054114 NCBI chr15:45,744,320...45,753,252
Ensembl chr15:45,742,751...45,764,213 		JBrowse link
G CFP complement factor properdin ISO mRNA:decreased expression:placenta RGD PMID:20008130 RGD:7488901 NCBI chr  X:42,157,980...42,174,964
Ensembl chr  X:42,157,988...42,174,951 		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 chr 5:78,350,131...78,380,893
Ensembl chr 5:78,350,137...78,380,718 		JBrowse link
G COMT catechol-O-methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:23667712 NCBI chr14:51,384,729...51,403,997
Ensembl chr14:51,385,738...51,403,998 		JBrowse link
G CPS1 carbamoyl-phosphate synthase 1 ISO RGD PMID:3973436 RGD:2303532 NCBI chr15:113,210,038...113,339,086
Ensembl chr15:113,150,157...113,339,078 		JBrowse link
G CTH cystathionine gamma-lyase ISO CTD Direct Evidence: marker/mechanism CTD PMID:28157488 NCBI chr 6:142,454,922...142,486,352
Ensembl chr 6:142,454,914...142,486,367 		JBrowse link
G CYP11A1 cytochrome P450 family 11 subfamily A member 1 ISO mRNA:increased expression:adrenal gland, maternal (rat) RGD PMID:17881205 RGD:4832477 NCBI chr 7:59,172,829...59,188,479
Ensembl chr 7:59,175,758...59,188,478 		JBrowse link
G CYP1A1 cytochrome P450 family 1 subfamily A member 1 ISO mRNA:increased expression:placenta RGD PMID:16225763 PMID:17706398 PMID:18442069 RGD:11576311 RGD:11576317 RGD:2306659 NCBI chr 7:58,802,887...58,809,155
Ensembl chr 7:58,802,887...58,809,775 		JBrowse link
G DDX23 DEAD-box helicase 23 ISO ClinVar Annotator: match by term: Intrauterine growth retardation ClinVar PMID:25741868 PMID:34050707 NCBI chr 5:14,888,951...14,909,741
Ensembl chr 5:14,888,958...14,899,174 		JBrowse link
G DES desmin ISO CTD Direct Evidence: marker/mechanism CTD PMID:28157488 NCBI chr15:121,428,539...121,435,426
Ensembl chr15:121,427,642...121,435,423 		JBrowse link
G DLK1 delta like non-canonical Notch ligand 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27776119 NCBI chr 7:121,565,844...121,577,493
Ensembl chr 7:121,565,854...121,576,654 		JBrowse link
G DNMT1 DNA methyltransferase 1 ISO mRNA:increased expression:adrenal gland:
mRNA,protein:decreased expression:hippocampus:
mRNA:decreased expression:kidney:		 RGD PMID:12869365 PMID:16380407 PMID:24717552 RGD:9588242 RGD:9588619 RGD:9590296 NCBI chr 2:68,981,564...69,040,364
Ensembl chr 2:68,981,566...69,029,844 		JBrowse link
G DNMT3B DNA methyltransferase 3 beta ISO mRNA:increased expression:adrenal gland: RGD PMID:24717552 RGD:9590296 NCBI chr17:36,345,715...36,386,076
Ensembl chr17:36,345,816...36,386,072 		JBrowse link
G DUSP1 dual specificity phosphatase 1 ISO RGD PMID:12487923 RGD:7771581 NCBI chr16:51,457,924...51,461,095
Ensembl chr16:51,458,020...51,461,086 		JBrowse link
G DUSP5 dual specificity phosphatase 5 ISO RGD PMID:16940436 RGD:2317872 NCBI chr14:120,906,340...120,919,398
Ensembl chr14:120,906,343...120,919,384 		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 chr 9:33,720,920...34,039,954
Ensembl chr 9:33,720,877...34,040,188 		JBrowse link
G ESRRG estrogen related receptor gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:35220427 NCBI chr10:6,710,615...7,371,419
Ensembl chr10:6,712,860...6,941,501 		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 chr14:100,927,305...100,954,781
Ensembl chr14:100,927,089...100,956,716 		JBrowse link
G FASLG Fas ligand severity ISO associated with protein:increased expression:serum:
protein:increased expression:amniotic fluid:		 RGD PMID:16169656 PMID:23582102 RGD:12903972 RGD:12904025 NCBI chr 9:115,068,314...115,075,147
Ensembl chr 9:115,068,090...115,076,464 		JBrowse link
G FOS Fos proto-oncogene, AP-1 transcription factor subunit treatment ISO RGD PMID:26322574 RGD:405650593 NCBI chr 7:98,449,508...98,451,971
Ensembl chr 7:98,449,349...98,455,554 		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 chr 6:31,177,112...31,564,674
Ensembl chr 6:31,174,569...31,564,718 		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 chr12:19,965,885...19,975,783
Ensembl chr12:19,965,330...19,975,857 		JBrowse link
G GHRL ghrelin and obestatin prepropeptide disease_progression ISO RGD PMID:20637157 RGD:12904883 NCBI chr13:66,442,106...66,453,576
Ensembl chr13:66,445,992...66,452,917 		JBrowse link
G GHSR growth hormone secretagogue receptor disease_progression ISO RGD PMID:20637157 RGD:12904883 NCBI chr13:110,981,465...111,006,149
Ensembl chr13:110,983,298...111,038,324 		JBrowse link
G GLUD1 glutamate dehydrogenase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19500843 NCBI chr14:87,968,850...88,005,375
Ensembl chr14:87,968,850...88,005,520 		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 chr16:69,332,786...69,654,366
Ensembl chr16:69,332,587...69,655,380 		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 chr 3:32,749,329...33,149,350
Ensembl chr 3:32,750,700...33,143,499 		JBrowse link
G GRIN2B glutamate ionotropic receptor NMDA type subunit 2B treatment ISO RGD PMID:20423831 RGD:13210763 NCBI chr 5:58,477,862...58,948,735
Ensembl chr 5:58,480,528...58,927,558 		JBrowse link
G HADHA hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha ISO mRNA:decreased expression RGD PMID:11124150 RGD:1599884 NCBI chr 3:112,753,343...112,797,627
Ensembl chr 3:112,752,865...112,797,733 		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 chr 6:88,749,611...88,785,220
Ensembl chr 6:88,749,634...88,785,411 		JBrowse link
G HDAC2 histone deacetylase 2 ISO mRNA:increased expression:adrenal gland: RGD PMID:24717552 RGD:9590296 NCBI chr 1:79,867,713...79,901,597
Ensembl chr 1:79,863,094...79,901,585 		JBrowse link
G HNF4A hepatocyte nuclear factor 4 alpha ISO DNA:altered methylation:prompter: RGD PMID:20126273 RGD:12904699 NCBI chr17:46,783,772...46,847,505
Ensembl chr17:46,783,777...46,847,500 		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 chr 6:28,084,087...28,089,256
Ensembl chr 6:28,083,955...28,089,671 		JBrowse link
G IGF1 insulin like growth factor 1 onset
treatment		 ISO mRNA:decreased expression:liver
protein:decreased expression:placenta labyrinth (rat)
human protein in a rat model		 RGD PMID:9284279 PMID:15506645 PMID:19088829 PMID:24239160 RGD:12904720 RGD:12910460 RGD:1600258 RGD:2306715 NCBI chr 5:81,762,027...81,909,253
Ensembl chr 5:81,775,970...81,848,033 		JBrowse link
G IGF1R insulin like growth factor 1 receptor onset ISO protein:increased expression:liver, lung (rat)
protein:decreased expression:placenta labyrinth (rat)
DNA:point mutation:exon:p.R108Q, p.K115N (human)
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:12536576 PMID:14657428 PMID:24239160 RGD:12904720 RGD:12904724 RGD:1624299 NCBI chr 1:137,383,623...137,691,038
Ensembl chr 1:137,387,825...137,691,058 		JBrowse link
G IGF2 insulin like growth factor 2 ISO CTD Direct Evidence: marker/mechanism
mRNA:altered expresssion:liver,placenta:		 CTD
RGD		 PMID:1408464 PMID:12087403 PMID:16040806 RGD:14985247 NCBI chr 2:1,469,183...1,496,417 JBrowse link
G IGF2R insulin like growth factor 2 receptor ISO mRNA:increased expresssion:fetus: RGD PMID:1408464 RGD:14985247 NCBI chr 1:7,369,485...7,472,480
Ensembl chr 1:7,368,103...7,472,548 		JBrowse link
G IGFBP3 insulin like growth factor binding protein 3 treatment ISO protein:increased expression:Amniotic fluid:
protein:decreased expression:serum:
mRNA:increased expression:placenta:
protein:increased expression:brain
DNA:hypermethylation:promoter:		 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 chr18:50,002,921...50,009,425
Ensembl chr18:50,003,022...50,010,690 		JBrowse link
G IL1A interleukin 1 alpha ISO mRNA:increased expression:placenta RGD PMID:11005132 RGD:2311066 NCBI chr 3:43,718,320...43,731,668
Ensembl chr 3:43,718,368...43,731,119 		JBrowse link
G IRS1 insulin receptor substrate 1 ISO mRNA,protein:decreased expression:growth plate: RGD PMID:22995397 RGD:8661261 NCBI chr15:128,245,846...128,307,321
Ensembl chr15:128,245,846...128,307,284 		JBrowse link
G IRS2 insulin receptor substrate 2 ISO RGD PMID:20720385 RGD:7257699 NCBI chr11:76,626,158...76,654,639
Ensembl chr11:76,626,179...76,653,881 		JBrowse link
G LEP leptin ISO RGD PMID:21353474 RGD:5128507 NCBI chr18:20,106,867...20,124,071
Ensembl chr18:20,106,868...20,123,323 		JBrowse link
G LOC100519098 sterile alpha motif domain-containing protein 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27182967 NCBI chr 9:72,965,088...72,999,261
Ensembl chr 9:72,964,869...72,999,258 		JBrowse link
G MDM2 MDM2 proto-oncogene ISO mRNA:decreased expression:cerebrum (rat) RGD PMID:15563574 RGD:2317395 NCBI chr 5:33,105,717...33,137,602
Ensembl chr 5:33,105,759...33,137,739 		JBrowse link
G MECP2 methyl-CpG binding protein 2 ISO mRNA,protein:decreased expression:hippocampus: RGD PMID:16380407 RGD:9588242 NCBI chr  X:124,735,523...124,789,063
Ensembl chr  X:124,735,656...124,738,659 		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 chr 6:30,059,247...30,087,031
Ensembl chr 6:30,058,595...30,086,982 		JBrowse link
G MTHFD1 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 susceptibility ISO DNA:SNP:cds:1958G>A(human)
DNA:SNP: :401A>G(human)		 RGD PMID:18771981 PMID:22378735 PMID:25118499 RGD:12910955 RGD:12910958 RGD:12914148 NCBI chr 7:88,471,317...88,533,690
Ensembl chr 7:88,471,414...88,537,387 		JBrowse link
G MUC1 mucin 1, cell surface associated ISO RGD PMID:19287349 RGD:7349369 NCBI chr 4:94,626,317...94,631,194 JBrowse link
G MUC2 mucin 2, oligomeric mucus/gel-forming ISO RGD PMID:19287349 RGD:7349369 NCBI chr 2:689,363...719,542
Ensembl chr 2:689,364...710,330 		JBrowse link
G MUC4 mucin 4, cell surface associated ISO RGD PMID:19287349 RGD:7349369 NCBI chr13:134,192,412...134,248,435 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 chr15:82,967,485...83,146,185
Ensembl chr15:82,973,656...83,146,183 		JBrowse link
G NOS1 nitric oxide synthase 1 ISO associated with hyperinsulinemia; protein:decreased expression:placenta RGD PMID:19709742 RGD:5132592 NCBI chr14:35,112,898...35,299,297
Ensembl chr14:35,113,184...35,295,944 		JBrowse link
G NOS2 nitric oxide synthase 2 ISO associated with hyperinsulinemia; protein:increased expression:placenta RGD PMID:19709742 RGD:5132592 NCBI chr12:44,174,944...44,219,875
Ensembl chr12:44,174,948...44,218,146 		JBrowse link
G NOS3 nitric oxide synthase 3 ISO CTD Direct Evidence: marker/mechanism
associated with hyperinsulinemia; protein:decreased expression:placenta
RNA, protein:increased expression:thoracic aorta:		 CTD
RGD		 PMID:19709742 PMID:22421449 PMID:23667712 PMID:29741931 RGD:13792602 RGD:5132592 NCBI chr18:6,209,218...6,228,912
Ensembl chr18:6,209,158...6,228,943 		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 chr 2:144,822,937...144,956,451
Ensembl chr 2:144,822,939...144,956,451 		JBrowse link
G ORC1 origin recognition complex subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21358633 NCBI chr 6:159,819,302...159,852,306
Ensembl chr 6:159,819,339...159,852,305 		JBrowse link
G OTC ornithine transcarbamylase ISO mRNA:altered expression:liver (rat) RGD PMID:8929856 RGD:4144077 NCBI chr  X:34,322,398...34,391,711
Ensembl chr  X:34,322,298...34,391,821 		JBrowse link
G PCK1 phosphoenolpyruvate carboxykinase 1 ISO mRNA:decreased expression:liver: RGD PMID:12538794 RGD:10448276 NCBI chr17:57,930,507...57,936,523
Ensembl chr17:57,930,432...57,936,522 		JBrowse link
G PDGFA platelet derived growth factor subunit A ISO mRNA:increased expression:placenta RGD PMID:11005132 RGD:2311066 NCBI chr 3:296,399...322,967
Ensembl chr 3:301,584...321,712 		JBrowse link
G PDGFB platelet derived growth factor subunit B ISO mRNA:increased expression:placenta RGD PMID:11005132 RGD:2311066 Ensembl chr 5:8,986,462...9,007,435 JBrowse link
G PDX1 pancreatic and duodenal homeobox 1 ISO mRNA:decreased expression:pancreas (rat)
mRNA:decreased expression:pancreatic islet		 RGD PMID:12606515 PMID:18464933 RGD:2311214 RGD:2311220 NCBI chr11:5,303,609...5,309,063
Ensembl chr11:5,303,609...5,309,063 		JBrowse link
G PPARG peroxisome proliferator activated receptor gamma ISO mRNA:decreased expression:lung (rat) RGD PMID:21425435 RGD:8552971 NCBI chr13:68,301,566...68,433,951
Ensembl chr13:68,302,322...68,433,944 		JBrowse link
G PPARGC1A PPARG coactivator 1 alpha ISO mRNA, protein:increased expression:liver (rat) RGD PMID:18433551 RGD:10059649 NCBI chr 8:17,841,844...18,527,953
Ensembl chr 8:17,841,844...17,946,992 		JBrowse link
G PRDX6 peroxiredoxin 6 ISO protein:decreased expression:placenta RGD PMID:25171874 RGD:26884462 NCBI chr 9:115,857,629...115,868,898
Ensembl chr 9:115,857,644...115,868,892 		JBrowse link
G PTGER3 prostaglandin E receptor 3 ISO mRNA, protein:increased expression:placenta (rat) RGD PMID:15990166 RGD:10043194 NCBI chr 6:141,958,955...142,160,437
Ensembl chr 6:141,958,955...142,161,286 		JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 ISO associated with Placental Insufficiency;mRNA, protein:decreased expression:kidney RGD PMID:17272666 RGD:2308941 NCBI chr 9:127,850,164...127,858,866
Ensembl chr 9:127,850,015...127,858,884 		JBrowse link
G PTPN11 protein tyrosine phosphatase non-receptor type 11 treatment ISO with postnatal growth restriction RGD PMID:19491300 RGD:12743586 NCBI chr14:39,202,165...39,292,041
Ensembl chr14:39,202,169...39,292,003 		JBrowse link
G RBP1 retinol binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28157488 NCBI chr13:80,380,958...80,407,328
Ensembl chr13:80,380,962...80,407,458 		JBrowse link
G REN renin ISO CTD Direct Evidence: marker/mechanism CTD PMID:17537837 NCBI chr 9:64,809,143...64,822,605
Ensembl chr 9:64,809,146...64,822,658 		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 chr 3:8,863,738...8,871,572
Ensembl chr 3:8,863,695...8,871,547 		JBrowse link
G SIN3A SIN3 transcription regulator family member A ISO RGD PMID:18464933 RGD:2311214 NCBI chr 7:58,171,821...58,246,126
Ensembl chr 7:58,176,167...58,245,971 		JBrowse link
G SLC2A2 solute carrier family 2 member 2 ISO mRNA, protein:decreased expression:liver RGD PMID:9886959 RGD:12879480 NCBI chr13:109,592,595...109,614,105
Ensembl chr13:109,587,258...109,638,510 		JBrowse link
G SLC2A3 solute carrier family 2 member 3 ISO protein:increased expression:placenta RGD PMID:11738800 RGD:730192 NCBI chr 5:62,963,635...63,041,955 JBrowse link
G SLC38A2 solute carrier family 38 member 2 ISO mRNA, protein:decreased expression:placenta RGD PMID:21812961 RGD:9999212 NCBI chr 5:77,113,491...77,127,715
Ensembl chr 5:77,113,494...77,127,650 		JBrowse link
G SOD1 superoxide dismutase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21893188 NCBI chr13:195,326,573...195,335,273
Ensembl chr13:195,326,649...195,337,729 		JBrowse link
G SREBF1 sterol regulatory element binding transcription factor 1 ISO RGD PMID:19017816 RGD:2308805 NCBI chr12:60,733,967...60,750,951
Ensembl chr12:60,733,907...60,751,267 		JBrowse link
G STAR steroidogenic acute regulatory protein ISO mRNA:increased expression:adrenal gland, maternal (rat) RGD PMID:17881205 RGD:4832477 NCBI chr15:48,377,597...48,385,398
Ensembl chr15:48,377,521...48,385,462 		JBrowse link
G TFF3 trefoil factor 3 ISO RGD PMID:19287349 RGD:7349369 NCBI chr13:205,641,038...205,644,333
Ensembl chr13:205,641,038...205,644,333 		JBrowse link
G UNC13A unc-13 homolog A ISO RGD PMID:18787382 RGD:5686390 NCBI chr 2:60,057,926...60,130,015 JBrowse link
G VDR vitamin D receptor ISO mRNA,protein:decreased expression:placenta: RGD PMID:25716068 RGD:11058690 NCBI chr 5:78,205,807...78,266,505
Ensembl chr 5:78,205,810...78,266,475 		JBrowse link
G XDH xanthine dehydrogenase ISO ClinVar Annotator: match by term: Intrauterine growth restriction ClinVar PMID:25741868 PMID:28492532 PMID:30755392 NCBI chr 3:107,987,060...108,052,043
Ensembl chr 3:107,987,126...108,053,169 		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 chr 3:43,736,526...43,772,995
Ensembl chr 3:43,736,744...43,772,974 		JBrowse link
G NT5DC4 5'-nucleotidase domain containing 4 ISO ClinVar Annotator: match by term: Filippi syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:43,778,331...43,789,122
Ensembl chr 3:43,779,259...43,789,121 		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 chr 3:17,662,374...17,702,862
Ensembl chr 3:17,664,349...17,700,219 		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 ISO ClinVar Annotator: match by term: GAPO syndrome ClinVar
OMIM		 PMID:9180938 PMID:9298746 PMID:23602711 PMID:24033266 PMID:25045128 More... NCBI chr 3:73,157,744...73,398,379
Ensembl chr 3:73,157,747...73,398,379 		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 chr 1:273,119,826...273,155,412
Ensembl chr 1:273,119,904...273,155,409 		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 chr 1:123,102,011...123,359,649
Ensembl chr 1:123,102,009...123,359,649 		JBrowse link
G LTBP3 latent transforming growth factor beta binding protein 3 ISO ClinVar Annotator: match by term: Geleophysic dysplasia ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:6,701,455...6,720,191
Ensembl chr 2:6,701,510...6,720,153 		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 chr 1:273,119,826...273,155,412
Ensembl chr 1:273,119,904...273,155,409 		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 chr 1:123,102,011...123,359,649
Ensembl chr 1:123,102,009...123,359,649 		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 chr 2:6,701,455...6,720,191
Ensembl chr 2:6,701,510...6,720,153 		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 chr  X:15,370,327...15,518,746
Ensembl chr  X:15,371,805...15,463,619 		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 chr  X:16,252,407...16,312,426
Ensembl chr  X:16,252,420...16,312,439 		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 chr  X:14,635,795...14,703,934 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 chr  X:14,858,826...15,096,969
Ensembl chr  X:14,952,225...15,078,855 		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 chr  X:16,429,625...16,449,581
Ensembl chr  X:16,429,628...16,449,556 		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 chr  X:15,716,898...15,867,377
Ensembl chr  X:15,715,991...15,867,120 		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 chr  X:16,327,718...16,423,546
Ensembl chr  X:16,327,968...16,422,772 		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 chr  X:13,854,950...14,209,085
Ensembl chr  X:14,097,006...14,206,568 		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 chr  X:15,699,924...15,718,908
Ensembl chr  X:15,700,050...15,718,903 		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 chr  X:15,279,398...15,365,731
Ensembl chr  X:15,283,120...15,365,565 		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 chr  X:15,111,230...15,251,415
Ensembl chr  X:15,138,350...15,251,228 		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 chr  X:14,246,776...14,633,071
Ensembl chr  X:14,244,317...14,309,143 		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 chr  X:16,452,401...16,576,854
Ensembl chr  X:16,452,405...16,576,859 		JBrowse link
G RS1 retinoschisin 1 ISO ClinVar Annotator: match by term: Glycogen storage disease IXa1 ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chr  X:15,080,972...15,099,426
Ensembl chr  X:15,085,050...15,109,243 		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 chr  X:14,210,164...14,222,053 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 chr  X:14,715,357...14,823,016
Ensembl chr  X:14,717,606...14,823,413 		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 chr  X:15,887,131...16,229,212
Ensembl chr  X:15,885,069...16,224,183 		JBrowse link
glycogen storage disease IXB term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCC11 ATP binding cassette subfamily C member 11 ISO ClinVar Annotator: match by term: Glycogen storage disease IXb ClinVar PMID:28492532 NCBI chr 6:36,462,190...36,546,989
Ensembl chr 6:36,465,192...36,546,976 		JBrowse link
G ABCC12 ATP binding cassette subfamily C member 12 ISO ClinVar Annotator: match by term: Glycogen storage disease IXb ClinVar PMID:28492532 NCBI chr 6:36,559,645...36,653,044
Ensembl chr 6:36,557,290...36,649,715 		JBrowse link
G C6H16orf87 chromosome 6 C16orf87 homolog ISO ClinVar Annotator: match by term: Glycogen storage disease IXb ClinVar PMID:28492532 NCBI chr 6:37,784,499...37,817,907
Ensembl chr 6:37,784,694...37,817,195 		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 chr 6:37,584,012...37,606,198
Ensembl chr 6:37,591,916...37,608,361 		JBrowse link
G GPT2 glutamic--pyruvic transaminase 2 ISO ClinVar Annotator: match by term: Glycogen storage disease IXb ClinVar PMID:28492532 NCBI chr 6:37,625,428...37,669,695
Ensembl chr 6:37,625,436...37,669,663 		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 chr 6:37,193,632...37,430,910
Ensembl chr 6:37,193,711...37,432,883 		JBrowse link
G MYLK3 myosin light chain kinase 3 ISO ClinVar Annotator: match by term: Glycogen storage disease IXb ClinVar PMID:28492532 NCBI chr 6:37,850,117...37,920,862
Ensembl chr 6:37,850,754...37,920,754 		JBrowse link
G NETO2 neuropilin and tolloid like 2 ISO ClinVar Annotator: match by term: Glycogen storage disease IXb ClinVar PMID:28492532 NCBI chr 6:37,443,534...37,506,589
Ensembl chr 6:37,443,699...37,505,736 		JBrowse link
G ORC6 origin recognition complex subunit 6 ISO ClinVar Annotator: match by term: Glycogen storage disease IXb ClinVar PMID:28492532 NCBI chr 6:37,934,903...37,943,950
Ensembl chr 6:37,934,908...37,943,886 		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 chr 6:36,994,424...37,193,631
Ensembl chr 6:36,991,274...37,193,593 		JBrowse link
G VPS35 VPS35 retromer complex component ISO ClinVar Annotator: match by term: Glycogen storage disease IXb ClinVar PMID:28492532 NCBI chr 6:37,944,099...37,977,091
Ensembl chr 6:37,944,127...37,986,171 		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 chr 3:17,640,790...17,656,765
Ensembl chr 3:17,639,996...17,656,618 		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 chr  X:58,456,097...58,583,216
Ensembl chr  X:58,455,939...58,583,216 		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 chr  X:15,279,398...15,365,731
Ensembl chr  X:15,283,120...15,365,565 		JBrowse link
GRACILE syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BCS1L BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone ISO ClinVar Annotator: match by term: GRACILE syndrome OMIM
ClinVar		 PMID:9545407 PMID:11528392 PMID:12215968 PMID:12547234 PMID:12910490 More... NCBI chr15:120,707,770...120,711,794
Ensembl chr15:120,707,814...120,711,793 		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 chr 2:6,701,455...6,720,191
Ensembl chr 2:6,701,510...6,720,153 		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 chr 1:100,521,843...100,633,501
Ensembl chr 1:100,589,850...100,628,029 		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 chr 9:44,167,422...44,178,137
Ensembl chr 9:44,167,423...44,177,435 		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 chr 3:41,945,846...42,022,610
Ensembl chr 3:41,945,770...42,022,760 		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...
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 chr14:107,174,062...107,221,373
Ensembl chr14:107,170,689...107,221,215 		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 chr 3:113,501,972...113,609,148
Ensembl chr 3:113,528,926...113,603,087 		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 chr 4:106,646,591...106,656,490
Ensembl chr 4:106,646,011...106,656,452 		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 chr  X:125,218,928...125,228,881
Ensembl chr  X:125,218,923...125,229,525 		JBrowse link
G POT1 protection of telomeres 1 ISO ClinVar Annotator: match by term: Growth retardation prenatal with progressive pancytopenia and cerebellar hypoplasia ClinVar PMID:25741868 PMID:28492532 PMID:29625052 PMID:32155570 NCBI chr18:22,885,704...22,981,893
Ensembl chr18:22,885,749...22,981,890 		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 chr17:62,611,844...62,636,628
Ensembl chr17:62,611,909...62,634,690 		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 chr16:79,258,591...79,276,421
Ensembl chr16:79,258,591...79,276,421 		JBrowse link
G TINF2 TERF1 interacting nuclear factor 2 ISO ClinVar Annotator: match by term: Hoyeraal-Hreidarsson syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:75,056,790...75,067,895
Ensembl chr 7:75,056,798...75,063,979 		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 chr14:55,749,409...55,818,738
Ensembl chr14:55,749,473...55,818,004 		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 chr14:55,816,663...55,901,215
Ensembl chr14:55,816,668...55,901,171 		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 chr 1:137,383,623...137,691,038
Ensembl chr 1:137,387,825...137,691,058 		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 chr 2:2,019,391...2,022,092
Ensembl chr 2:2,019,830...2,021,853 		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 chr14:22,798,146...22,852,818
Ensembl chr14:22,798,192...22,853,547 		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:14684690 PMID:15769976 PMID:18317720 PMID:19240240 More... NCBI chr 5:81,762,027...81,909,253
Ensembl chr 5:81,775,970...81,848,033 		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
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:19058315 PMID:20556423 More... NCBI chr 1:128,319,311...128,474,330
Ensembl chr 1:128,319,311...128,474,302 		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...
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 chr 2:9,119,621...9,125,081
Ensembl chr 2:9,119,656...9,125,061 		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 chr 2:80,349,732...80,359,878
Ensembl chr 2:80,346,307...80,359,973 		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 chr 2:9,052,676...9,064,890
Ensembl chr 2:9,052,070...9,064,886 		JBrowse link
G CHST3 carbohydrate sulfotransferase 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr14:74,850,931...74,891,527
Ensembl chr14:74,850,931...74,891,520 		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 chr 7:25,204,496...25,234,880
Ensembl chr 7:25,204,497...25,234,888 		JBrowse link
G CSKMT citrate synthase lysine methyltransferase ISO ClinVar Annotator: match by term: Larsen-like syndrome, B3GAT3 type ClinVar PMID:28492532 NCBI chr 2:9,082,704...9,084,158
Ensembl chr 2:9,079,511...9,084,164 		JBrowse link
G GANAB glucosidase II alpha subunit ISO ClinVar Annotator: match by term: Larsen-like syndrome, B3GAT3 type ClinVar PMID:28492532 NCBI chr 2:9,100,672...9,118,396
Ensembl chr 2:9,100,702...9,118,390 		JBrowse link
G INTS5 integrator complex subunit 5 ISO ClinVar Annotator: match by term: Larsen-like syndrome, B3GAT3 type ClinVar PMID:28492532 NCBI chr 2:9,095,646...9,100,487
Ensembl chr 2:9,095,633...9,100,307 		JBrowse link
G LRRN4CL LRRN4 C-terminal like ISO ClinVar Annotator: match by term: Larsen-like syndrome, B3GAT3 type ClinVar PMID:28492532 NCBI chr 2:9,065,340...9,067,639 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 chr 2:9,125,377...9,127,615
Ensembl chr 2:9,125,381...9,127,615 		JBrowse link
G UBXN1 UBX domain protein 1 ISO ClinVar Annotator: match by term: Larsen-like syndrome, B3GAT3 type ClinVar PMID:28492532 NCBI chr 2:9,072,549...9,075,595
Ensembl chr 2:9,072,968...9,075,594 		JBrowse link
G UQCC3 ubiquinol-cytochrome c reductase complex assembly factor 3 ISO ClinVar Annotator: match by term: Larsen-like syndrome, B3GAT3 type ClinVar PMID:28492532 NCBI chr 2:9,077,055...9,078,649
Ensembl chr 2:9,074,784...9,078,541 		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...
G SHOX2 SHOX homeobox 2 ISO OMIM:127300 MouseDO NCBI chr13:97,879,586...97,892,276
Ensembl chr13:97,879,281...97,889,785 		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 chr15:29,782,613...30,042,727
Ensembl chr15:29,782,746...30,042,734 		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 chr 7:25,344,924...25,468,430
Ensembl chr 7:25,344,822...25,470,470 		JBrowse link
G CDC45 cell division cycle 45 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr14:51,133,111...51,158,604
Ensembl chr14:51,133,408...51,158,606 		JBrowse link
G CDC6 cell division cycle 6 ISO ClinVar Annotator: match by term: Meier-Gorlin syndrome ClinVar PMID:28492532 NCBI chr12:22,101,281...22,118,441
Ensembl chr12:22,101,282...22,118,593 		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 chr 6:893,377...897,706
Ensembl chr 6:893,381...897,934 		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 chr13:197,192,661...197,204,243
Ensembl chr13:197,193,658...197,203,932 		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 chr 7:19,585,968...19,595,346
Ensembl chr 7:19,586,002...19,595,344 		JBrowse link
G MCM3 minichromosome maintenance complex component 3 ISO ClinVar Annotator: match by term: Meier-Gorlin syndrome ClinVar PMID:25741868 PMID:33654309 NCBI chr 7:46,084,648...46,104,425
Ensembl chr 7:46,084,662...46,104,375 		JBrowse link
G MCM7 minichromosome maintenance complex component 7 ISO ClinVar Annotator: match by term: Meier-Gorlin syndrome ClinVar PMID:25741868 PMID:33654309 NCBI chr 3:8,005,890...8,014,047
Ensembl chr 3:8,005,900...8,014,053 		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 chr 6:159,819,302...159,852,306
Ensembl chr 6:159,819,339...159,852,305 		JBrowse link
G ORC4 origin recognition complex subunit 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21358631 PMID:21358632 NCBI chr15:4,096,539...4,176,332
Ensembl chr15:4,096,647...4,171,398 		JBrowse link
G ORC6 origin recognition complex subunit 6 ISO ClinVar Annotator: match by term: Meier-Gorlin syndrome ClinVar PMID:25741868 NCBI chr 6:37,934,903...37,943,950
Ensembl chr 6:37,934,908...37,943,886 		JBrowse link
G VPS35 VPS35 retromer complex component ISO ClinVar Annotator: match by term: Meier-Gorlin syndrome ClinVar PMID:25741868 NCBI chr 6:37,944,099...37,977,091
Ensembl chr 6:37,944,127...37,986,171 		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 chr13:197,192,661...197,204,243
Ensembl chr13:197,193,658...197,203,932 		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 chr 6:159,819,302...159,852,306
Ensembl chr 6:159,819,339...159,852,305 		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 chr15:4,096,539...4,176,332
Ensembl chr15:4,096,647...4,171,398 		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 chr 6:37,934,903...37,943,950
Ensembl chr 6:37,934,908...37,943,886 		JBrowse link
G VPS35 VPS35 retromer complex component ISO ClinVar Annotator: match by term: Meier-Gorlin syndrome 3 ClinVar PMID:25741868 NCBI chr 6:37,944,099...37,977,091
Ensembl chr 6:37,944,127...37,986,171 		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 chr 6:893,377...897,706
Ensembl chr 6:893,381...897,934 		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 chr12:22,101,281...22,118,441
Ensembl chr12:22,101,282...22,118,593 		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 chr 7:19,585,968...19,595,346
Ensembl chr 7:19,586,002...19,595,344 		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 More... NCBI chr14:51,133,111...51,158,604
Ensembl chr14:51,133,408...51,158,606 		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
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
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 chr15:29,782,613...30,042,727
Ensembl chr15:29,782,746...30,042,734 		JBrowse link
G MYH7 myosin heavy chain 7 ISO ClinVar Annotator: match by term: Brachymelic primordial dwarfism ClinVar PMID:22958901 PMID:24111713 PMID:25741868 PMID:28492532 PMID:28798025 More... NCBI chr 7:75,650,841...75,672,908
Ensembl chr 7:75,648,442...75,673,225 		JBrowse link
G PKP2 plakophilin 2 ISO ClinVar Annotator: match by term: Microcephalic Osteodysplastic Primordial Dwarfism, Type I ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 5:41,424,687...41,509,590
Ensembl chr 5:41,424,845...41,508,868 		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...
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 chr13:206,074,943...206,094,713
Ensembl chr13:206,074,945...206,094,297 		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 chr12:60,443,592...60,468,968
Ensembl chr12:60,443,677...60,468,964 		JBrowse link
Microcephaly, Short Stature, and Impaired Glucose Metabolism 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TRMT10A tRNA methyltransferase 10A ISO ClinVar Annotator: match by term: Microcephaly, short stature, and impaired glucose metabolism 1 OMIM
ClinVar		 PMID:24204302 PMID:25053765 PMID:25741868 PMID:26535115 PMID:28492532 More... NCBI chr 8:120,879,067...120,917,442
Ensembl chr 8:120,879,523...120,917,433 		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 chr 9:65,056,495...65,069,083
Ensembl chr 9:65,056,398...65,066,775 		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 chr 1:152,688,305...152,833,969
Ensembl chr 1:152,689,504...152,833,946 		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 chr 9:108,271,343...108,320,574
Ensembl chr 9:108,269,830...108,320,267 		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 chr14:111,996,781...112,049,309
Ensembl chr14:111,996,783...112,047,885 		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 chr 1:223,560,271...223,653,370 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 chr 6:83,478,761...83,484,876
Ensembl chr 6:83,477,759...83,484,688 		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 chr 4:101,445,977...101,478,144
Ensembl chr 4:101,444,693...101,478,144 		JBrowse link
G PSAT1 phosphoserine aminotransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:231,142,673...231,172,364
Ensembl chr 1:231,142,625...231,172,360 		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 chr 3:979,403...1,005,584
Ensembl chr 3:979,405...1,005,527 		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 FRA10A associated CGG repeat 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 chr14:105,125,513...105,169,866
Ensembl chr14:105,122,910...105,167,660 		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 chr17:52,936,169...53,072,620
Ensembl chr17:52,938,725...53,072,379 		JBrowse link
NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH AND SKELETAL ANOMALIES term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC100516485 protocadherin gamma-B2-like ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with poor growth and skeletal anomalies ClinVar PMID:25741868 PMID:34244665 NCBI chr 2:142,998,345...143,002,558
Ensembl chr 2:142,993,554...143,156,556 		JBrowse link
G LOC106509585 protocadherin gamma-B1-like ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with poor growth and skeletal anomalies ClinVar PMID:25741868 PMID:34244665 NCBI chr 2:142,989,108...142,993,793
Ensembl chr 2:142,989,140...142,991,824 		JBrowse link
G LOC106509588 protocadherin gamma-A2-like ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with poor growth and skeletal anomalies ClinVar PMID:25741868 PMID:34244665 NCBI chr 2:142,975,853...142,981,025 JBrowse link
G LOC106509590 protocadherin gamma-B4-like ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with poor growth and skeletal anomalies ClinVar PMID:25741868 PMID:34244665 NCBI chr 2:143,024,318...143,029,107 JBrowse link
G LOC110259517 protocadherin gamma-A7-like ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with poor growth and skeletal anomalies ClinVar PMID:25741868 PMID:34244665 NCBI chr 2:143,020,545...143,023,466 JBrowse link
G LOC110259669 protocadherin gamma-A8-like ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with poor growth and skeletal anomalies ClinVar PMID:25741868 PMID:34244665 NCBI chr 2:143,031,697...143,036,830 JBrowse link
G LOC110259670 protocadherin gamma-A9-like ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with poor growth and skeletal anomalies ClinVar PMID:25741868 PMID:34244665 NCBI chr 2:143,041,492...143,046,022 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 chr 3:17,406,263...17,417,115
Ensembl chr 3:17,406,273...17,416,795 		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 chr 7:112,039,949...112,090,632
Ensembl chr 7:112,038,234...112,090,510 		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 chr 7:112,027,904...112,041,360
Ensembl chr 7:112,027,921...112,041,489 		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 chr 4:117,269,030...117,307,803
Ensembl chr 4:117,269,074...117,306,188 		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 chr 4:117,320,229...117,396,383
Ensembl chr 4:117,314,845...117,396,495 		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:27431290 PMID:29868776 NCBI chr 4:89,296,281...89,311,331
Ensembl chr 4:89,296,282...89,302,941 		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 chr 2:134,844,460...134,939,188
Ensembl chr 2:134,700,817...134,939,189 		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 chr  X:124,658,429...124,662,744
Ensembl chr  X:124,658,158...124,662,702 		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 chr11:62,436,143...63,560,908
Ensembl chr11:62,438,453...63,560,897 		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 chr10:51,817,697...51,820,147
Ensembl chr10:51,817,924...51,819,960 		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 chr11:7,792,160...7,907,052
Ensembl chr11:7,792,368...7,907,049 		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 chr14:112,808,215...112,814,225
Ensembl chr14:112,808,162...112,814,248 		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 chr 9:26,356,159...26,438,315
Ensembl chr 9:26,355,996...26,437,442 		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 chr 3:16,843,801...16,858,819
Ensembl chr 3:16,843,804...16,858,819 		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 chr 3:16,812,409...16,819,130
Ensembl chr 3:16,812,404...16,819,124 		JBrowse link
G PHKG1 phosphorylase kinase catalytic subunit gamma 1 ISO ClinVar Annotator: match by term: Phosphoserine phosphatase deficiency ClinVar PMID:28492532 NCBI chr 3:16,822,042...16,831,054
Ensembl chr 3:16,822,043...16,834,329 		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 chr 3:16,877,904...16,903,062
Ensembl chr 3:16,877,923...16,907,952 		JBrowse link
G SUMF2 sulfatase modifying factor 2 ISO ClinVar Annotator: match by term: Phosphoserine phosphatase deficiency ClinVar PMID:28492532 NCBI chr 3:16,819,761...16,843,573
Ensembl chr 3:16,830,922...16,843,584 		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 chr15:124,472,236...124,555,042 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 chr 7:90,345,726...90,913,625
Ensembl chr 7:90,346,714...90,916,455 		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 chr 7:91,415,041...91,452,530
Ensembl chr 7:91,415,042...91,452,405 		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 chr14:59,177,801...59,192,221
Ensembl chr14:59,171,192...59,192,269 		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 chr  X:46,281,958...46,444,315
Ensembl chr  X:46,281,967...46,444,228 		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 chr11:289,660...357,920
Ensembl chr11:289,653...355,581 		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 chr11:154,457...281,039
Ensembl chr11:154,458...281,032 		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 chr15:121,100,624...121,190,086
Ensembl chr15:121,100,628...121,190,062 		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 chr 7:54,449,830...54,520,606
Ensembl chr 7:54,449,816...54,519,194 		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 chr 8:82,115,057...82,355,660
Ensembl chr 8:82,115,056...82,355,655 		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 chr 1:149,090,502...149,517,494
Ensembl chr 1:149,090,789...149,516,790 		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 chr13:34,227,884...34,308,099
Ensembl chr13:34,227,457...34,308,083 		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 chr 3:121,882,734...122,242,325
Ensembl chr 3:121,882,744...122,242,326 		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 chr16:46,434,757...46,523,626
Ensembl chr16:46,511,521...46,523,609 		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...
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 chr17:46,742,662...46,745,898
Ensembl chr17:46,739,973...46,745,982 		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 chr 2:1,469,183...1,496,417 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 chr 6:19,154,413...19,204,827
Ensembl chr 6:19,154,417...19,204,826 		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 chr14:99,718,299...99,816,346
Ensembl chr14:99,685,578...99,808,381 		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 chr15:117,617,584...117,649,063
Ensembl chr15:117,617,502...117,649,107 		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 chr 5:78,350,131...78,380,893
Ensembl chr 5:78,350,137...78,380,718 		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 chr15:117,658,158...117,737,145
Ensembl chr15:117,658,099...117,731,014 		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 chr  X:98,234,469...98,255,396 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 chr  X:98,514,286...98,535,154
Ensembl chr  X:98,514,305...98,535,149 		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 chr  X:98,752,711...98,758,428 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 chr  X:98,668,945...98,730,582
Ensembl chr  X:98,668,953...98,730,565 		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 chr  X:97,068,488...97,267,528
Ensembl chr  X:97,068,355...97,267,517 		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 chr  X:97,300,960...97,353,754
Ensembl chr  X:97,300,466...97,356,133 		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 chr  X:97,581,400...97,651,765 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 chr  X:98,586,718...98,623,939
Ensembl chr  X:98,556,710...98,623,940 		JBrowse link
G LOC100738684 malignant T-cell-amplified sequence 1 ISO ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type ClinVar PMID:17236139 PMID:25385192 PMID:28492532 NCBI chr10:65,704,921...65,705,734 JBrowse link
G LOC102157657 uncharacterized LOC102157657 ISO ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type ClinVar PMID:17236139 PMID:25385192 PMID:28492532 NCBI chr  X:98,304,777...98,310,448 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 chr  X:97,494,305...97,547,813
Ensembl chr  X:97,494,328...97,534,185 		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 chr  X:98,219,717...98,223,873
Ensembl chr  X:98,219,988...98,223,868 		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 chr  X:98,233,504...98,276,839
Ensembl chr  X:98,256,632...98,276,773 		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 chr  X:98,008,870...98,025,423
Ensembl chr  X:98,007,910...98,025,373 		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 chr  X:97,735,402...97,743,424
Ensembl chr  X:97,735,244...97,743,423 		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 chr  X:98,218,689...98,219,931
Ensembl chr  X:98,218,565...98,219,773 		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 chr  X:98,178,148...98,181,439
Ensembl chr  X:98,178,150...98,181,332 		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 chr  X:98,033,212...98,106,082
Ensembl chr  X:98,031,890...98,161,607 		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 chr  X:97,868,804...97,906,771
Ensembl chr  X:97,868,696...97,906,760 		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 chr  X:97,919,295...97,922,245
Ensembl chr  X:97,919,290...97,922,239 		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 chr  X:98,154,437...98,158,808
Ensembl chr  X:98,156,970...98,158,807 		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 chr  X:97,974,596...97,986,281
Ensembl chr  X:97,974,604...97,986,278 		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 chr  X:98,412,286...98,464,683
Ensembl chr  X:98,413,949...98,464,660 		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 chr  X:97,925,136...98,007,551
Ensembl chr  X:97,925,131...98,012,278 		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 chr  X:98,184,646...98,206,135
Ensembl chr  X:98,182,272...98,206,096 		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 chr  X:98,370,137...98,413,686
Ensembl chr  X:98,405,319...98,414,279 		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 chr  X:120,777,559...121,263,574
Ensembl chr  X:120,777,734...121,263,569 		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 chr 6:67,605,863...68,471,922
Ensembl chr 6:67,605,790...68,471,920 		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 chr  X:46,281,958...46,444,315
Ensembl chr  X:46,281,967...46,444,228 		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 chr 6:64,188,265...64,242,596
Ensembl chr 6:64,188,236...64,242,560 		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 chr 3:111,996,138...112,002,127
Ensembl chr 3:111,996,142...112,002,132 		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 chr 3:113,875,005...113,969,053
Ensembl chr 3:113,876,339...113,982,369 		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 chr 3:112,693,165...112,704,778
Ensembl chr 3:112,671,204...112,705,296 		JBrowse link
G AGBL5 AGBL carboxypeptidase 5 ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr 3:112,047,234...112,066,977
Ensembl chr 3:112,047,290...112,066,977 		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 chr 3:113,044,788...113,184,809
Ensembl chr 3:113,044,836...113,180,742 		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 chr 3:111,914,710...111,919,766
Ensembl chr 3:111,914,708...111,919,946 		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 chr 3:110,897,250...111,328,414
Ensembl chr 3:110,897,360...111,328,402 		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 chr 3:111,887,017...111,914,511
Ensembl chr 3:111,887,020...111,914,492 		JBrowse link
G CCDC121 coiled-coil domain containing 121 ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr 3:111,565,045...111,570,457 JBrowse link
G CENPA centromere protein A ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr 3:112,263,912...112,272,638
Ensembl chr 3:112,263,915...112,272,621 		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 chr 3:113,968,735...113,979,201
Ensembl chr 3:113,968,902...113,979,148 		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 chr 3:112,006,596...112,020,211 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 chr 3:112,415,709...112,457,253
Ensembl chr 3:112,406,908...112,457,138 		JBrowse link
G CIMIP2C ciliary microtubule inner protein 2C ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr 3:112,458,914...112,474,431
Ensembl chr 3:112,458,916...112,474,437 		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 chr 3:113,816,718...113,857,117
Ensembl chr 3:113,816,772...113,857,113 		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 chr 3:111,853,579...111,863,610
Ensembl chr 3:111,853,664...111,857,677 		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 chr 3:113,501,972...113,609,148
Ensembl chr 3:113,528,926...113,603,087 		JBrowse link
G DPYSL5 dihydropyrimidinase like 5 ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr 3:112,155,538...112,252,963
Ensembl chr 3:112,156,676...112,252,968 		JBrowse link
G DRC1 dynein regulatory complex subunit 1 ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr 3:112,581,765...112,621,664
Ensembl chr 3:112,581,779...112,621,623 		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 chr 3:113,229,161...113,477,009 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 chr 3:113,670,750...113,758,956
Ensembl chr 3:113,670,755...113,758,876 		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 chr 3:111,781,661...111,786,377
Ensembl chr 3:111,781,648...111,786,372 		JBrowse link
G EMILIN1 elastin microfibril interfacer 1 ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr 3:112,031,910...112,039,928
Ensembl chr 3:112,031,917...112,046,429 		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 chr 3:111,677,569...111,682,496
Ensembl chr 3:111,678,892...111,682,426 		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 chr 3:110,820,403...110,842,903
Ensembl chr 3:110,823,666...110,843,068 		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 chr 3:112,799,350...112,817,583
Ensembl chr 3:112,800,719...112,805,740 		JBrowse link
G GCKR glucokinase regulator ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr 3:111,649,557...111,683,539
Ensembl chr 3:111,649,539...111,676,772 		JBrowse link
G GPN1 GPN-loop GTPase 1 ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr 3:111,541,010...111,565,065
Ensembl chr 3:111,537,737...111,572,692 		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 chr 3:111,793,700...111,820,501
Ensembl chr 3:111,793,338...111,820,506 		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 chr 3:112,753,343...112,797,627
Ensembl chr 3:112,752,865...112,797,733 		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 chr 3:112,712,894...112,753,121
Ensembl chr 3:112,704,024...112,753,086 		JBrowse link
G IFT172 intraflagellar transport 172 ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr 3:111,683,674...111,718,504
Ensembl chr 3:111,683,669...111,718,970 		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 chr 3:114,363,319...114,508,447
Ensembl chr 3:114,363,529...114,508,444 		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 chr 3:112,322,446...112,359,212
Ensembl chr 3:112,322,446...112,359,212 		JBrowse link
G KHK ketohexokinase ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr 3:112,021,163...112,031,615
Ensembl chr 3:112,021,108...112,031,620 		JBrowse link
G KIF3C kinesin family member 3C ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr 3:112,963,424...113,014,632
Ensembl chr 3:112,966,804...113,014,624 		JBrowse link
G KRTCAP3 keratinocyte associated protein 3 ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr 3:111,718,581...111,720,245
Ensembl chr 3:111,718,584...111,720,207 		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 chr 3:112,084,467...112,136,079
Ensembl chr 3:112,084,469...112,136,061 		JBrowse link
G MPV17 mitochondrial inner membrane protein MPV17 ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr 3:111,823,075...111,833,929
Ensembl chr 3:111,821,690...111,833,928 		JBrowse link
G MRPL33 mitochondrial ribosomal protein L33 ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr 3:111,428,850...111,438,735
Ensembl chr 3:111,428,856...111,438,707 		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 chr 3:113,997,214...114,251,080
Ensembl chr 3:113,999,253...114,250,298 		JBrowse link
G NRBP1 nuclear receptor binding protein 1 ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr 3:111,720,377...111,733,032
Ensembl chr 3:111,720,379...111,733,304 		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 chr 3:112,046,116...112,055,376
Ensembl chr 3:112,046,398...112,046,511 		JBrowse link
G OTOF otoferlin ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr 3:112,478,188...112,581,105
Ensembl chr 3:112,478,027...112,581,104 		JBrowse link
G PLB1 phospholipase B1 ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr 3:110,605,923...110,741,236
Ensembl chr 3:110,605,923...110,741,130 		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 chr 3:113,661,712...113,668,558
Ensembl chr 3:113,661,004...113,670,418 		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 chr 3:111,748,012...111,770,868
Ensembl chr 3:111,748,105...111,770,901 		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 chr 3:110,437,681...110,474,896
Ensembl chr 3:110,437,688...110,474,891 		JBrowse link
G PREB prolactin regulatory element binding ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr 3:111,992,364...111,996,194
Ensembl chr 3:111,992,391...111,996,559 		JBrowse link
G PRR30 proline rich 30 ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr 3:111,987,904...111,991,486 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 chr 3:113,979,174...113,982,943 JBrowse link
G RAB10 RAB10, member RAS oncogene family ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr 3:112,842,190...112,924,188
Ensembl chr 3:112,829,137...112,924,269 		JBrowse link
G RBKS ribokinase ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr 3:111,328,758...111,426,173
Ensembl chr 3:111,328,750...111,426,908 		JBrowse link
G SELENOI selenoprotein I ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr 3:112,632,985...112,671,127
Ensembl chr 3:112,628,744...112,671,078 		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 chr 3:111,870,803...111,878,234
Ensembl chr 3:111,870,681...111,879,324 		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 chr 3:112,280,654...112,296,874
Ensembl chr 3:112,280,661...112,296,865 		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 chr 3:111,503,994...111,532,133
Ensembl chr 3:111,506,254...111,531,625 		JBrowse link
G SLC5A6 solute carrier family 5 member 6 ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr 3:111,919,298...111,930,944
Ensembl chr 3:111,922,848...111,930,940 		JBrowse link
G SNX17 sorting nexin 17 ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr 3:111,775,038...111,781,545
Ensembl chr 3:111,774,843...111,781,474 		JBrowse link
G SPATA31H1 SPATA31 subfamily H member 1 ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr 3:111,605,900...111,612,235
Ensembl chr 3:111,605,828...111,612,082 		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 chr 3:111,531,670...111,542,000
Ensembl chr 3:111,531,689...111,542,000 		JBrowse link
G TCF23 transcription factor 23 ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr 3:111,976,848...111,983,879
Ensembl chr 3:111,976,845...111,983,790 		JBrowse link
G TMEM214 transmembrane protein 214 ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr 3:112,069,932...112,080,715
Ensembl chr 3:112,069,933...112,080,682 		JBrowse link
G TRIM54 tripartite motif containing 54 ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr 3:111,836,038...111,852,468
Ensembl chr 3:111,834,181...111,852,744 		JBrowse link
G UCN urocortin ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr 3:111,834,082...111,835,932
Ensembl chr 3:111,835,125...111,835,508 		JBrowse link
G ZNF512 zinc finger protein 512 ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr 3:111,572,423...111,605,830
Ensembl chr 3:111,572,425...111,605,793 		JBrowse link
G ZNF513 zinc finger protein 513 ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr 3:111,771,406...111,774,928
Ensembl chr 3:111,771,239...111,774,925 		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 chr 2:6,440,483...6,445,927
Ensembl chr 2:6,440,390...6,445,927 		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 chr 7:24,040,525...24,046,932
Ensembl chr 7:24,040,525...24,047,025 		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 chr 7:24,047,000...24,057,621
Ensembl chr 7:24,047,010...24,057,621 		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 chr 2:102,079,675...102,164,020
Ensembl chr 2:102,079,685...102,163,938 		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 chr18:8,263,761...8,369,060
Ensembl chr18:8,263,896...8,368,972 		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 chr 2:102,079,675...102,164,020
Ensembl chr 2:102,079,685...102,163,938 		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 chr 7:24,047,000...24,057,621
Ensembl chr 7:24,047,010...24,057,621 		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 chr 1:149,090,502...149,517,494
Ensembl chr 1:149,090,789...149,516,790 		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:28492532 NCBI chr12:23,375,998...23,379,587
Ensembl chr12:23,376,002...23,379,584 		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:28492532 More... NCBI chr12:23,362,631...23,375,779
Ensembl chr12:23,362,654...23,375,775 		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 chr 4:812,137...824,321
Ensembl chr 4:812,131...824,318 		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 chr 1:123,102,011...123,359,649
Ensembl chr 1:123,102,009...123,359,649 		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 chr12:26,379,087...26,397,180
Ensembl chr12:26,379,090...26,397,004 		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 chr14:80,410,143...80,471,740
Ensembl chr14:80,413,099...80,471,697 		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 chr12:1,060,028...1,064,808
Ensembl chr12:1,060,570...1,064,805 		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 chr 1:9,791,627...10,227,381
Ensembl chr 1:9,791,633...10,227,502 		JBrowse link
G CHD7 chromodomain helicase DNA binding protein 7 ISO ClinVar Annotator: match by term: Wiedemann-Steiner syndrome ClinVar NCBI chr 4:72,572,455...72,754,443
Ensembl chr 4:72,573,453...72,694,146 		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 chr 9:45,743,566...45,828,559
Ensembl chr 9:45,743,397...45,824,884 		JBrowse link
G SMC1A structural maintenance of chromosomes 1A ISO ClinVar Annotator: match by term: Wiedemann-Steiner syndrome ClinVar PMID:25574841 NCBI chr  X:46,143,738...46,202,187
Ensembl chr  X:46,144,920...46,218,543 		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 chr 6:29,999,504...30,056,858
Ensembl chr 6:29,998,488...30,056,862 		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 chr 7:76,174,502...76,185,931
Ensembl chr 7:76,172,971...76,185,928 		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 chr 6:30,059,247...30,087,031
Ensembl chr 6:30,058,595...30,086,982 		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 chr 8:475,164...496,510
Ensembl chr 8:475,888...496,002 		JBrowse link
G FGFRL1 fibroblast growth factor receptor like 1 ISO ClinVar Annotator: match by term: Wittwer syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:365,367...378,384
Ensembl chr 8:365,181...378,375 		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 chr 8:898,178...926,500
Ensembl chr 8:898,181...926,593 		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 chr 8:938,832...1,018,032
Ensembl chr 8:964,893...1,018,028 		JBrowse link
G NUF2 NUF2 component of NDC80 kinetochore complex ISO ClinVar Annotator: match by term: Wittwer syndrome ClinVar NCBI chr 4:87,162,873...87,194,193
Ensembl chr 4:87,162,818...87,194,170 		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 chr  X:61,584,028...61,872,341
Ensembl chr  X:61,584,848...61,872,287 		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 chr 2:70,063,601...70,068,821
Ensembl chr 2:70,063,519...70,068,821 		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 chr  X:46,281,958...46,444,315
Ensembl chr  X:46,281,967...46,444,228 		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 chr  X:43,177,264...43,192,021
Ensembl chr  X:43,177,272...43,191,830 		JBrowse link
XEROSIS AND GROWTH FAILURE WITH IMMUNE AND PULMONARY DYSFUNCTION SYNDROME term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DBR1 debranching RNA lariats 1 susceptibility ISO ClinVar Annotator: match by term: Xerosis and growth failure with immune and pulmonary dysfunction syndrome ClinVar
OMIM		 PMID:25741868 PMID:37656279 NCBI chr13:78,958,301...78,970,250
Ensembl chr13:78,958,218...78,970,137 		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 chr 4:117,320,229...117,396,383
Ensembl chr 4:117,314,845...117,396,495 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15277
    Pathological Conditions, Signs and Symptoms 11809
      Pathologic Processes 7356
        Growth Disorders 969
          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 + 191
          Filippi syndrome 2
          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 + 458
          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 7
          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 67
          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 1
          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 + 30
          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 26
          syndromic X-linked intellectual disability Turner type 4
paths to the root