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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:Malformations of Cortical Development, Group I
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Accession:DOID:9005611 term browser browse the term
Definition:Cortical malformations secondary to abnormal neuronal and glial CELL PROLIFERATION or APOPTOSIS in NEUROGENESIS. This group includes congenital MICROCEPHALIES; MICROLISSENCEPHALIES, megalencephalies, HEMIMEGALENCEPHALIES and cortical dysplasias with balloon cells.
Synonyms:exact_synonym: Abnormal Proliferation Cortical Malformations;   Cortical Malformations, Group I;   Malformations Due to Abnormal Neuronal and Glial Proliferation or Apoptosis;   Malformations Secondary to Abnormal Neuronal and Glial Proliferation or Apoptosis
 primary_id: MESH:D065703

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3p deletion syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ankrd28 ankyrin repeat domain 28 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004936473:8,550,851...8,730,845
Ensembl chrNW_004936473:8,550,950...8,730,902 		JBrowse link
G Capn7 calpain 7 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004936473:3,112,951...3,152,963
Ensembl chrNW_004936473:3,112,951...3,150,640 		JBrowse link
G Ccdc174 coiled-coil domain containing 174 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004936602:360,048...374,960
Ensembl chrNW_004936602:360,604...374,952 		JBrowse link
G Chchd4 coiled-coil-helix-coiled-coil-helix domain containing 4 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004936602:93,126...99,695
Ensembl chrNW_004936602:93,123...95,810 		JBrowse link
G Colq collagen like tail subunit of asymmetric acetylcholinesterase ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004936473:2,877,543...2,941,374
Ensembl chrNW_004936473:2,877,568...2,939,840 		JBrowse link
G CUNH3orf20 chromosome unknown C3orf20 homolog ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004936602:382,904...408,017
Ensembl chrNW_004936602:383,070...408,017 		JBrowse link
G Dazl deleted in azoospermia like ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004936473:9,392,079...9,436,725 JBrowse link
G Dph3 diphthamide biosynthesis 3 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004936473:9,046,062...9,052,522 JBrowse link
G Eaf1 ELL associated factor 1 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004936473:2,950,321...2,963,560
Ensembl chrNW_004936473:2,949,692...2,963,554 		JBrowse link
G Efhb EF-hand domain family member B ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004936473:12,179,950...12,232,093 JBrowse link
G Fbln2 fibulin 2 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004936898:112,687...148,686 JBrowse link
G Fgd5 FYVE, RhoGEF and PH domain containing 5 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004936602:432,114...483,964
Ensembl chrNW_004936602:436,058...482,370 		JBrowse link
G Galnt15 polypeptide N-acetylgalactosaminyltransferase 15 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004936473:8,974,884...9,016,222
Ensembl chrNW_004936473:8,975,948...9,016,228 		JBrowse link
G Grip2 glutamate receptor interacting protein 2 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004936602:276,964...334,942
Ensembl chrNW_004936602:278,252...314,720 		JBrowse link
G Hacl1 2-hydroxyacyl-CoA lyase 1 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004936473:2,823,183...2,856,077
Ensembl chrNW_004936473:2,823,123...2,856,077 		JBrowse link
G Hdac11 histone deacetylase 11 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004936898:148,891...177,471 JBrowse link
G Kat2b lysine acetyltransferase 2B ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004936473:12,341,545...12,415,637
Ensembl chrNW_004936473:12,344,343...12,417,875 		JBrowse link
G Kcnh8 potassium voltage-gated channel subfamily H member 8 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004936473:11,615,877...11,954,377
Ensembl chrNW_004936473:11,616,090...11,953,811 		JBrowse link
G LOC101961662 biotinidase ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004936473:2,787,386...2,823,014 JBrowse link
G Lsm3 LSM3 homolog, U6 small nuclear RNA and mRNA degradation associated ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004936602:140,014...147,000
Ensembl chrNW_004936602:140,004...147,035 		JBrowse link
G Mettl6 methyltransferase 6, tRNA N3-cytidine ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004936473:2,963,591...2,984,827
Ensembl chrNW_004936473:2,963,466...2,985,634 		JBrowse link
G Mrps25 mitochondrial ribosomal protein S25 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004936602:559,127...584,853
Ensembl chrNW_004936602:526,730...584,859 		JBrowse link
G Nr2c2 nuclear receptor subfamily 2 group C member 2 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004936602:491,821...557,790
Ensembl chrNW_004936602:504,652...553,936 		JBrowse link
G Nup210 nucleoporin 210 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004936898:196,545...237,211
Ensembl chrNW_004936898:201,392...237,699 		JBrowse link
G Oxnad1 oxidoreductase NAD binding domain containing 1 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004936473:9,052,679...9,096,411
Ensembl chrNW_004936473:9,052,692...9,099,712 		JBrowse link
G Plcl2 phospholipase C like 2 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004936473:9,628,612...9,801,713
Ensembl chrNW_004936473:9,627,811...9,802,132 		JBrowse link
G Pp2d1 protein phosphatase 2C like domain containing 1 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004936473:12,267,353...12,291,505
Ensembl chrNW_004936473:12,267,538...12,285,582 		JBrowse link
G Rab5a RAB5A, member RAS oncogene family ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004936473:12,238,226...12,267,339
Ensembl chrNW_004936473:12,238,156...12,269,089 		JBrowse link
G Rbsn rabenosyn, RAB effector ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004936602:586,284...607,088
Ensembl chrNW_004936602:586,169...607,158 		JBrowse link
G Rftn1 raftlin, lipid raft linker 1 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004936473:9,119,234...9,317,696
Ensembl chrNW_004936473:9,117,247...9,317,704 		JBrowse link
G Satb1 SATB homeobox 1 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004936473:10,906,059...11,001,007
Ensembl chrNW_004936473:10,904,989...11,001,051 		JBrowse link
G Setd5 SET domain containing 5 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:21681106 NCBI chrNW_004936602:3,577,543...3,654,179
Ensembl chrNW_004936602:3,577,525...3,654,269 		JBrowse link
G Sh3bp5 SH3 domain binding protein 5 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004936473:3,103,878...3,110,435
Ensembl chrNW_004936473:3,038,963...3,109,174 		JBrowse link
G Slc6a6 solute carrier family 6 member 6 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004936602:233,753...274,982 JBrowse link
G Tbc1d5 TBC1 domain family member 5 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004936473:9,868,657...10,294,554
Ensembl chrNW_004936473:9,868,430...10,188,484 		JBrowse link
G Thumpd3 THUMP domain containing 3 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:21681106 NCBI chrNW_004936602:3,664,354...3,689,130
Ensembl chrNW_004936602:3,661,967...3,689,159 		JBrowse link
G Tmem43 transmembrane protein 43 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004936602:104,424...113,692
Ensembl chrNW_004936602:104,033...113,738 		JBrowse link
G Wnt7a Wnt family member 7A ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004936898:45,903...70,313
Ensembl chrNW_004936898:45,115...70,326 		JBrowse link
G Xpc XPC complex subunit, DNA damage recognition and repair factor ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004936602:118,173...139,884
Ensembl chrNW_004936602:118,188...139,675 		JBrowse link
Al-Raqad Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dcps decapping enzyme, scavenger ISO ClinVar Annotator: match by term: Al-Raqad syndrome OMIM
ClinVar		 PMID:25701870 PMID:25712129 PMID:25741868 PMID:28492532 PMID:30289615 More... NCBI chrNW_004936572:5,861,391...5,899,757
Ensembl chrNW_004936572:5,860,639...5,899,804 		JBrowse link
Amish Lethal Microcephaly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc25a19 solute carrier family 25 member 19 ISO ClinVar Annotator: match by term: Amish lethal microcephaly | ClinVar Annotator: match by term: Microcephaly, Amish type | ClinVar Annotator: match by term: THIAMINE METABOLISM DYSFUNCTION SYNDROME 3 (MICROCEPHALY TYPE) OMIM
ClinVar		 PMID:12185364 PMID:18414213 PMID:19798730 PMID:25741868 PMID:26467025 More... NCBI chrNW_004936594:557,823...570,599 JBrowse link
Arboleda-Tham syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kat6a lysine acetyltransferase 6A ISO ClinVar Annotator: match by term: Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome | ClinVar Annotator: match by term: KAT6A syndrome | ClinVar Annotator: match by term: KAT6A-related condition | ClinVar Annotator: match by term: KAT6A-related neurodevelopmental disorder with multiple anomalies OMIM
ClinVar		 PMID:17374998 PMID:23431171 PMID:25728775 PMID:25728777 PMID:25741868 More... NCBI chrNW_004936785:602,754...704,504
Ensembl chrNW_004936785:603,478...701,791 		JBrowse link
Asparagine Synthetase Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Asns asparagine synthetase (glutamine-hydrolyzing) ISO ClinVar Annotator: match by term: ASNS DEFICIENCY | ClinVar Annotator: match by term: ASNS-related condition | ClinVar Annotator: match by term: Asparagine synthetase deficiency OMIM
ClinVar		 PMID:16199547 PMID:24139043 PMID:25227173 PMID:25663424 PMID:25741868 More... NCBI chrNW_004936585:2,834,202...2,854,740
Ensembl chrNW_004936585:2,834,008...2,855,387 		JBrowse link
Autosomal Dominant Intellectual Developmental Disorder 63 with Macrocephaly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trio trio Rho guanine nucleotide exchange factor ISO ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal dominant 63, with macrocephaly | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 63, WITH MACROCEPHALY | ClinVar Annotator: match by term: TRIO-related condition OMIM
ClinVar		 PMID:22495306 PMID:25363768 PMID:25741868 PMID:26721934 PMID:27418539 More... NCBI chrNW_004936665:1,821,580...2,029,839
Ensembl chrNW_004936665:1,821,583...2,030,371 		JBrowse link
Bannayan-Riley-Ruvalcaba syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Egfr epidermal growth factor receptor ISO ClinVar Annotator: match by term: Cowden syndrome 1 ClinVar NCBI chrNW_004936678:365,005...560,546
Ensembl chrNW_004936678:365,834...436,528 		JBrowse link
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha ISO ClinVar Annotator: match by term: Cowden syndrome 1 ClinVar PMID:15016963 PMID:15254419 PMID:15520168 PMID:15647370 PMID:15805248 More... NCBI chrNW_004936566:3,924,013...3,951,052
Ensembl chrNW_004936566:3,923,934...3,951,073 		JBrowse link
G Pten phosphatase and tensin homolog ISO ClinVar Annotator: match by term: Bannayan-Riley-Ruvalcaba syndrome | ClinVar Annotator: match by term: Cowden syndrome 1 ClinVar
OMIM		 PMID:1097835 PMID:1336932 PMID:1945792 PMID:2333580 PMID:2338203 More... NCBI chrNW_004936735:1,252,414...1,338,318
Ensembl chrNW_004936735:1,252,414...1,338,323 		JBrowse link
G Sdhb succinate dehydrogenase complex iron sulfur subunit B ISO ClinVar Annotator: match by term: Cowden syndrome 1 ClinVar PMID:19802898 PMID:20923864 PMID:21979946 PMID:23072324 PMID:23512077 More... NCBI chrNW_004936474:3,993,224...4,021,359
Ensembl chrNW_004936474:3,990,778...4,021,423 		JBrowse link
Baralle-Macken Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Copb1 COPI coat complex subunit beta 1 ISO ClinVar Annotator: match by term: Baralle-Macken syndrome OMIM
ClinVar		 PMID:25741868 PMID:33632302 NCBI chrNW_004936528:4,211,670...4,249,103
Ensembl chrNW_004936528:4,211,304...4,249,176 		JBrowse link
Basel-Vanagaite-Smirin-Yosef syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Med25 mediator complex subunit 25 ISO ClinVar Annotator: match by term: Basel-Vanagaite-Smirin-Yosef syndrome OMIM
ClinVar		 PMID:25488817 PMID:25527630 PMID:25741868 PMID:25792360 PMID:28170084 More... NCBI chrNW_004936664:3,610,004...3,629,850
Ensembl chrNW_004936664:3,609,451...3,628,337 		JBrowse link
Beaulieu-Boycott-Innes Syndrome 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: THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome ClinVar PMID:15241795 PMID:16571647 PMID:16905551 PMID:17701892 PMID:18435798 More... NCBI chrNW_004936471:10,747,030...10,969,223
Ensembl chrNW_004936471:10,746,996...10,969,231 		JBrowse link
G Thoc6 THO complex subunit 6 ISO ClinVar Annotator: match by term: THOC6-related condition | ClinVar Annotator: match by term: THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome OMIM
ClinVar		 PMID:16199547 PMID:18414213 PMID:23621916 PMID:25741868 PMID:26739162 More... NCBI chrNW_004936694:1,144,122...1,147,345
Ensembl chrNW_004936694:1,143,345...1,147,345 		JBrowse link
Bloom syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aagab alpha and gamma adaptin binding protein ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:27,194,800...27,244,768
Ensembl chrNW_004936471:27,196,888...27,244,806 		JBrowse link
G Abhd17c abhydrolase domain containing 17C, depalmitoylase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936483:19,908,853...19,964,627 JBrowse link
G Abhd2 abhydrolase domain containing 2, acylglycerol lipase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:17407155 PMID:28492532 NCBI chrNW_004936483:14,974,053...15,079,824
Ensembl chrNW_004936483:14,974,035...15,074,154 		JBrowse link
G Acan aggrecan ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:17407155 PMID:28492532 NCBI chrNW_004936483:14,811,152...14,846,305
Ensembl chrNW_004936483:14,811,152...14,846,305 		JBrowse link
G Acsbg1 acyl-CoA synthetase bubblegum family member 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:36,767,656...36,822,677
Ensembl chrNW_004936471:36,767,652...36,822,722 		JBrowse link
G Actc1 actin alpha cardiac muscle 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936673:1,092,700...1,098,256
Ensembl chrNW_004936673:1,092,717...1,100,331 		JBrowse link
G Adam10 ADAM metallopeptidase domain 10 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:19,760,709...19,911,759
Ensembl chrNW_004936471:19,758,118...19,911,759 		JBrowse link
G Adamts7 ADAM metallopeptidase with thrombospondin type 1 motif 7 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:36,978,555...37,025,733
Ensembl chrNW_004936471:36,978,667...37,025,773 		JBrowse link
G Adamtsl3 ADAMTS like 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936483:18,191,568...18,523,988
Ensembl chrNW_004936483:18,193,198...18,522,028 		JBrowse link
G Adpgk ADP dependent glucokinase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:32,025,310...32,052,558
Ensembl chrNW_004936471:32,026,081...32,052,539 		JBrowse link
G Aen apoptosis enhancing nuclease ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936483:14,601,671...14,611,613 JBrowse link
G Afg2b AFG2 AAA ATPase homolog B ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:8,064,708...8,078,968
Ensembl chrNW_004936471:8,065,363...8,080,939 		JBrowse link
G Agbl1 AGBL carboxypeptidase 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936483:12,358,731...13,056,267
Ensembl chrNW_004936483:12,358,754...12,586,674 		JBrowse link
G Akap13 A-kinase anchoring protein 13 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936483:11,661,862...11,977,292 JBrowse link
G Aldh1a2 aldehyde dehydrogenase 1 family member A2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:19,175,997...19,263,335
Ensembl chrNW_004936471:19,175,992...19,263,335 		JBrowse link
G Alpk3 alpha kinase 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936483:16,862,194...16,913,791
Ensembl chrNW_004936483:16,862,251...16,912,558 		JBrowse link
G Ankdd1a ankyrin repeat and death domain containing 1A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:25,254,021...25,282,486
Ensembl chrNW_004936471:25,258,553...25,281,997 		JBrowse link
G Ankrd34c ankyrin repeat domain 34C ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:37,445,613...37,459,818
Ensembl chrNW_004936471:37,457,110...37,458,729 		JBrowse link
G Ankrd63 ankyrin repeat domain 63 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:3,751,068...3,752,234
Ensembl chrNW_004936471:3,751,068...3,752,234 		JBrowse link
G Anp32a acidic nuclear phosphoprotein 32 family member A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:28,601,816...28,635,002 JBrowse link
G Anpep alanyl aminopeptidase, membrane ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:17407155 PMID:28492532 NCBI chrNW_004936483:15,563,540...15,582,521
Ensembl chrNW_004936483:15,563,528...15,589,601 		JBrowse link
G Anxa2 annexin A2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:21,274,112...21,329,286
Ensembl chrNW_004936471:21,274,027...21,329,503 		JBrowse link
G Ap3b2 adaptor related protein complex 3 subunit beta 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936483:17,301,969...17,336,962
Ensembl chrNW_004936483:17,298,291...17,337,578 		JBrowse link
G Ap3s2 adaptor related protein complex 3 subunit sigma 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:17407155 PMID:28492532 NCBI chrNW_004936483:15,613,474...15,660,862
Ensembl chrNW_004936483:15,613,474...15,660,838 		JBrowse link
G Ap4e1 adaptor related protein complex 4 subunit epsilon 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:12,857,259...12,919,615
Ensembl chrNW_004936471:12,857,323...12,916,718 		JBrowse link
G Aph1b aph-1 homolog B, gamma-secretase subunit ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:23,839,962...23,869,788
Ensembl chrNW_004936471:23,839,907...23,869,935 		JBrowse link
G Aqp9 aquaporin 9 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:19,321,366...19,361,227
Ensembl chrNW_004936471:19,321,426...19,362,146 		JBrowse link
G Aqr aquarius intron-binding spliceosomal factor ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936673:922,393...1,032,572
Ensembl chrNW_004936673:922,341...1,033,307 		JBrowse link
G Arid3b AT-rich interaction domain 3B ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:33,540,159...33,585,398
Ensembl chrNW_004936471:33,540,054...33,586,826 		JBrowse link
G Arih1 ariadne RBR E3 ubiquitin protein ligase 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:31,822,592...31,947,624
Ensembl chrNW_004936471:31,822,592...31,947,624 		JBrowse link
G Arnt2 aryl hydrocarbon receptor nuclear translocator 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936483:20,041,712...20,218,853
Ensembl chrNW_004936483:20,041,657...20,218,965 		JBrowse link
G Arpp19 cAMP regulated phosphoprotein 19 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:14,334,667...14,353,131 JBrowse link
G Atosa atos homolog A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:14,362,597...14,454,529
Ensembl chrNW_004936471:14,362,187...14,453,193 		JBrowse link
G Atp8b4 ATPase phospholipid transporting 8B4 (putative) ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:11,999,100...12,216,076
Ensembl chrNW_004936471:12,000,789...12,216,039 		JBrowse link
G Aven apoptosis and caspase activation inhibitor ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936673:2,434,984...2,568,868
Ensembl chrNW_004936673:2,435,308...2,565,180 		JBrowse link
G B2m beta-2-microglobulin ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:7,646,504...7,655,656
Ensembl chrNW_004936471:7,646,373...7,655,778 		JBrowse link
G Bahd1 bromo adjacent homology domain containing 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:3,902,558...3,927,746
Ensembl chrNW_004936471:3,902,625...3,927,829 		JBrowse link
G Bbs4 Bardet-Biedl syndrome 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:31,962,500...32,019,516
Ensembl chrNW_004936471:31,962,336...32,020,712 		JBrowse link
G Bcl2a1 BCL2 related protein A1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:37,981,851...37,993,097
Ensembl chrNW_004936471:37,981,772...37,993,116 		JBrowse link
G Bcl2l10 BCL2 like 10 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:13,943,600...13,946,085 JBrowse link
G Blm BLM RecQ like helicase ISO ClinVar Annotator: match by term: Bloom syndrome | ClinVar Annotator: match by term: Bloom-Torre-Machacek syndrome OMIM
ClinVar		 PMID:2678854 PMID:7585968 PMID:7799980 PMID:9285778 PMID:9388480 More... NCBI chrNW_004936483:16,194,092...16,295,803
Ensembl chrNW_004936483:16,194,092...16,255,905 		JBrowse link
G Bloc1s6 biogenesis of lysosomal organelles complex 1 subunit 6 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:8,209,091...8,226,249
Ensembl chrNW_004936471:8,209,057...8,226,353 		JBrowse link
G Bmf Bcl2 modifying factor ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:3,573,437...3,594,438
Ensembl chrNW_004936471:3,577,221...3,594,981 		JBrowse link
G Bnc1 basonuclin zinc finger protein 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936483:17,900,189...17,911,925
Ensembl chrNW_004936483:17,900,189...17,911,948 		JBrowse link
G Bnip2 BCL2 interacting protein 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:20,655,415...20,675,351
Ensembl chrNW_004936471:20,652,601...20,675,325 		JBrowse link
G Btbd1 BTB domain containing 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936483:17,665,324...17,702,411
Ensembl chrNW_004936483:17,664,884...17,702,464 		JBrowse link
G Bub1b BUB1 mitotic checkpoint serine/threonine kinase B ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:3,631,760...3,696,024
Ensembl chrNW_004936471:3,633,536...3,695,684 		JBrowse link
G C2cd4a C2 calcium dependent domain containing 4A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:22,847,090...22,850,006 JBrowse link
G C2cd4b C2 calcium dependent domain containing 4B ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:22,939,454...22,941,728 JBrowse link
G Ca12 carbonic anhydrase 12 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:23,876,889...23,929,720
Ensembl chrNW_004936471:23,876,812...23,929,987 		JBrowse link
G Calml4 calmodulin like 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:28,058,165...28,067,463
Ensembl chrNW_004936471:28,058,176...28,067,442 		JBrowse link
G Capn3 calpain 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:5,667,839...5,711,822
Ensembl chrNW_004936471:5,668,169...5,711,075 		JBrowse link
G Catsper2 cation channel sperm associated 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:6,791,490...6,809,048
Ensembl chrNW_004936471:6,793,492...6,808,326 		JBrowse link
G Ccdc32 coiled-coil domain containing 32 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:4,016,063...4,028,040
Ensembl chrNW_004936471:4,015,824...4,028,070 		JBrowse link
G Ccdc33 coiled-coil domain containing 33 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:33,261,012...33,366,850
Ensembl chrNW_004936471:33,261,012...33,366,796 		JBrowse link
G Ccdc9b coiled-coil domain containing 9B ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:3,795,964...3,805,023
Ensembl chrNW_004936471:3,795,343...3,805,010 		JBrowse link
G Ccnb2 cyclin B2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:20,216,435...20,238,543 JBrowse link
G Ccndbp1 cyclin D1 binding protein 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:6,365,254...6,375,426
Ensembl chrNW_004936471:6,365,344...6,375,102 		JBrowse link
G Ccpg1 cell cycle progression 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:16,856,731...16,898,219
Ensembl chrNW_004936471:16,854,171...16,898,269 		JBrowse link
G Cd276 CD276 molecule ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:32,864,778...32,892,044
Ensembl chrNW_004936471:32,864,781...32,892,095 		JBrowse link
G Cdan1 codanin 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:5,988,215...6,001,446
Ensembl chrNW_004936471:5,988,738...6,001,649 		JBrowse link
G Cdin1 CDAN1 interacting nuclease 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:501,005...715,208
Ensembl chrNW_004936471:500,978...715,885 		JBrowse link
G Celf6 CUGBP Elav-like family member 6 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:31,668,520...31,700,581
Ensembl chrNW_004936471:31,666,297...31,700,587 		JBrowse link
G Cemip cell migration inducing hyaluronidase 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936483:19,721,256...19,799,371
Ensembl chrNW_004936483:19,724,605...19,799,361 		JBrowse link
G Cep152 centrosomal protein 152 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:11,052,994...11,133,385
Ensembl chrNW_004936471:11,052,720...11,117,327 		JBrowse link
G Cfap161 cilia and flagella associated protein 161 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936483:19,569,009...19,581,626
Ensembl chrNW_004936483:19,569,010...19,581,641 		JBrowse link
G Cgnl1 cingulin like 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:18,654,485...18,811,395
Ensembl chrNW_004936471:18,654,426...18,812,846 		JBrowse link
G Chac1 ChaC glutathione specific gamma-glutamylcyclotransferase 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:4,344,234...4,346,998
Ensembl chrNW_004936471:4,344,053...4,346,913 		JBrowse link
G Chp1 calcineurin like EF-hand protein 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:4,611,980...4,660,320
Ensembl chrNW_004936471:4,611,252...4,660,359 		JBrowse link
G Chrm5 cholinergic receptor muscarinic 5 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936673:2,607,906...2,610,885
Ensembl chrNW_004936673:2,608,003...2,609,624 		JBrowse link
G Chrna3 cholinergic receptor nicotinic alpha 3 subunit ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:36,427,598...36,447,903
Ensembl chrNW_004936471:36,427,495...36,457,758 		JBrowse link
G Chrna5 cholinergic receptor nicotinic alpha 5 subunit ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:36,451,070...36,492,774
Ensembl chrNW_004936471:36,452,965...36,492,618 		JBrowse link
G Chrnb4 cholinergic receptor nicotinic beta 4 subunit ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:36,408,471...36,425,571
Ensembl chrNW_004936471:36,408,447...36,426,021 		JBrowse link
G Chst14 carbohydrate sulfotransferase 14 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:3,930,167...3,932,356
Ensembl chrNW_004936471:3,930,388...3,931,518 		JBrowse link
G Ciao2a cytosolic iron-sulfur assembly component 2A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:24,547,862...24,568,003
Ensembl chrNW_004936471:24,548,235...24,567,792 		JBrowse link
G Cib1 calcium and integrin binding 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:17407155 PMID:28492532 NCBI chrNW_004936483:15,963,863...15,967,458
Ensembl chrNW_004936483:15,960,036...15,968,094 		JBrowse link
G Cib2 calcium and integrin binding family member 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:36,859,018...36,879,170
Ensembl chrNW_004936471:36,859,018...36,878,878 		JBrowse link
G Cilp cartilage intermediate layer protein ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:25,501,538...25,517,033
Ensembl chrNW_004936471:25,501,179...25,517,144 		JBrowse link
G Cimap1c ciliary microtubule associated protein 1C ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:34,484,748...34,489,508
Ensembl chrNW_004936471:34,484,748...34,489,508 		JBrowse link
G Ckmt1a creatine kinase, mitochondrial 1A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:6,754,514...6,760,025 JBrowse link
G Clk3 CDC like kinase 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:33,600,909...33,615,186
Ensembl chrNW_004936471:33,600,544...33,618,378 		JBrowse link
G Cln6 CLN6 transmembrane ER protein ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:28,069,058...28,084,607
Ensembl chrNW_004936471:28,070,462...28,084,648 		JBrowse link
G Clpx caseinolytic mitochondrial matrix peptidase chaperone subunit X ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:25,447,750...25,484,956
Ensembl chrNW_004936471:25,444,711...25,484,988 		JBrowse link
G Commd4 COMM domain containing 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:34,178,384...34,182,035
Ensembl chrNW_004936471:34,178,373...34,182,080 		JBrowse link
G Cops2 COP9 signalosome subunit 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:11,412,147...11,437,056
Ensembl chrNW_004936471:11,410,543...11,437,096 		JBrowse link
G Coro2b coronin 2B ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:28,481,615...28,552,143
Ensembl chrNW_004936471:28,481,630...28,552,160 		JBrowse link
G Cpeb1 cytoplasmic polyadenylation element binding protein 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936483:17,216,288...17,296,430
Ensembl chrNW_004936483:17,216,213...17,294,534 		JBrowse link
G Cplx3 complexin 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:33,798,523...33,803,045
Ensembl chrNW_004936471:33,798,635...33,802,176 		JBrowse link
G Crabp1 cellular retinoic acid binding protein 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:36,665,641...36,672,626
Ensembl chrNW_004936471:36,662,647...36,672,606 		JBrowse link
G Crtc3 CREB regulated transcription coactivator 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:17407155 PMID:28492532 NCBI chrNW_004936483:16,356,663...16,465,128
Ensembl chrNW_004936483:16,356,689...16,455,073 		JBrowse link
G Csk C-terminal Src kinase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:33,757,778...33,777,871
Ensembl chrNW_004936471:33,757,772...33,778,933 		JBrowse link
G Csnk1g1 casein kinase 1 gamma 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:24,642,337...24,795,633
Ensembl chrNW_004936471:24,645,762...24,795,414 		JBrowse link
G Cspg4 chondroitin sulfate proteoglycan 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:34,438,676...34,475,005
Ensembl chrNW_004936471:34,438,676...34,475,052 		JBrowse link
G Ctdspl2 CTD small phosphatase like 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:7,425,543...7,502,299
Ensembl chrNW_004936471:7,425,590...7,503,980 		JBrowse link
G Ctsh cathepsin H ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:37,135,200...37,156,081
Ensembl chrNW_004936471:37,131,817...37,156,476 		JBrowse link
G Ctxn2 cortexin 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:10,546,562...10,557,960
Ensembl chrNW_004936471:10,557,512...10,557,760 		JBrowse link
G CUNH15orf39 chromosome unknown C15orf39 homolog ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:34,114,325...34,120,376
Ensembl chrNW_004936471:34,114,278...34,120,369 		JBrowse link
G CUNH15orf40 chromosome unknown C15orf40 homolog ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936483:17,654,996...17,660,204
Ensembl chrNW_004936483:17,653,350...17,660,226 		JBrowse link
G CUNH15orf48 chromosome unknown C15orf48 homolog ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:8,086,731...8,090,540
Ensembl chrNW_004936471:8,087,717...8,090,242 		JBrowse link
G CUNH15orf61 chromosome unknown C15orf61 homolog ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:27,471,069...27,484,061
Ensembl chrNW_004936471:27,471,016...27,475,884 		JBrowse link
G CUNH15orf62 chromosome unknown C15orf62 homolog ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:4,172,505...4,176,071 JBrowse link
G Dapk2 death associated protein kinase 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:24,412,035...24,527,007
Ensembl chrNW_004936471:24,412,029...24,527,023 		JBrowse link
G Dennd4a DENN domain containing 4A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:25,914,284...26,022,512
Ensembl chrNW_004936471:25,914,696...26,022,541 		JBrowse link
G Det1 DET1 partner of COP1 E3 ubiquitin ligase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936483:14,535,771...14,556,236
Ensembl chrNW_004936483:14,535,800...14,556,248 		JBrowse link
G Dis3l DIS3 like exosome 3'-5' exoribonuclease ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:26,477,014...26,515,380
Ensembl chrNW_004936471:26,477,166...26,515,995 		JBrowse link
G Disp2 dispatched RND transporter family member 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:3,821,310...3,836,074
Ensembl chrNW_004936471:3,821,263...3,836,989 		JBrowse link
G Dll4 delta like canonical Notch ligand 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:4,320,235...4,330,251
Ensembl chrNW_004936471:4,320,933...4,330,253 		JBrowse link
G Dmxl2 Dmx like 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:13,330,870...13,483,610
Ensembl chrNW_004936471:13,329,622...13,483,937 		JBrowse link
G Dnaaf4 dynein axonemal assembly factor 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:16,911,575...16,960,521
Ensembl chrNW_004936471:16,912,155...16,960,468 		JBrowse link
G Dnaja4 DnaJ heat shock protein family (Hsp40) member A4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:36,724,689...36,741,029
Ensembl chrNW_004936471:36,724,689...36,741,146 		JBrowse link
G Dnajc17 DnaJ heat shock protein family (Hsp40) member C17 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:4,177,636...4,200,873
Ensembl chrNW_004936471:4,177,623...4,200,879 		JBrowse link
G Dph6 diphthamine biosynthesis 6 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936673:400,871...564,413
Ensembl chrNW_004936673:400,722...567,184 		JBrowse link
G Dpp8 dipeptidyl peptidase 8 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:25,718,576...25,779,871
Ensembl chrNW_004936471:25,718,553...25,779,980 		JBrowse link
G Dtwd1 DTW domain containing 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:11,799,811...11,817,640
Ensembl chrNW_004936471:11,799,825...11,817,712 		JBrowse link
G Duox1 dual oxidase 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:7,848,472...7,881,417
Ensembl chrNW_004936471:7,848,472...7,879,390 		JBrowse link
G Duox2 dual oxidase 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:7,812,163...7,831,258
Ensembl chrNW_004936471:7,813,128...7,831,258 		JBrowse link
G Duoxa1 dual oxidase maturation factor 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:7,836,790...7,846,437
Ensembl chrNW_004936471:7,836,096...7,846,453 		JBrowse link
G Duoxa2 dual oxidase maturation factor 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:7,832,234...7,835,488
Ensembl chrNW_004936471:7,832,234...7,835,476 		JBrowse link
G Dut deoxyuridine triphosphatase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:10,670,604...10,681,356 JBrowse link
G Edc3 enhancer of mRNA decapping 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:33,617,256...33,667,371
Ensembl chrNW_004936471:33,617,256...33,667,390 		JBrowse link
G Efl1 elongation factor like GTPase 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936483:18,550,832...18,685,762
Ensembl chrNW_004936483:18,550,844...18,685,627 		JBrowse link
G Ehd4 EH domain containing 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:5,205,185...5,294,507
Ensembl chrNW_004936471:5,205,183...5,294,557 		JBrowse link
G Eid1 EP300 interacting inhibitor of differentiation 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:11,198,094...11,199,805
Ensembl chrNW_004936471:11,198,171...11,198,746 		JBrowse link
G Eif2ak4 eukaryotic translation initiation factor 2 alpha kinase 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:3,423,792...3,527,089
Ensembl chrNW_004936471:3,423,813...3,526,913 		JBrowse link
G Eif3j eukaryotic translation initiation factor 3 subunit J ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:7,517,577...7,541,965
Ensembl chrNW_004936471:7,517,540...7,540,371 		JBrowse link
G Ell3 elongation factor for RNA polymerase II 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:6,835,410...6,838,582
Ensembl chrNW_004936471:6,835,930...6,838,544 		JBrowse link
G Emc4 ER membrane protein complex subunit 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936673:2,723,563...2,732,164
Ensembl chrNW_004936673:2,723,322...2,732,305 		JBrowse link
G Emc7 ER membrane protein complex subunit 7 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936673:2,624,900...2,640,973
Ensembl chrNW_004936673:2,622,472...2,641,266 		JBrowse link
G Epb42 erythrocyte membrane protein band 4.2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:6,377,232...6,393,588
Ensembl chrNW_004936471:6,377,775...6,395,753 		JBrowse link
G Etfa electron transfer flavoprotein subunit alpha ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:35,868,851...35,942,662
Ensembl chrNW_004936471:35,868,757...35,943,139 		JBrowse link
G Exd1 exonuclease 3'-5' domain containing 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:4,561,253...4,611,472
Ensembl chrNW_004936471:4,561,220...4,611,442 		JBrowse link
G Fah fumarylacetoacetate hydrolase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:38,140,324...38,174,472
Ensembl chrNW_004936471:38,140,273...38,174,702 		JBrowse link
G Fam219b family with sequence similarity 219 member B ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:33,854,954...33,863,391
Ensembl chrNW_004936471:33,857,555...33,862,688 		JBrowse link
G Fam227b family with sequence similarity 227 member B ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:11,730,943...11,800,084 JBrowse link
G Fam81a family with sequence similarity 81 member A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:20,507,110...20,539,161
Ensembl chrNW_004936471:20,507,061...20,541,417 		JBrowse link
G Fam98b family with sequence similarity 98 member B ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:2,118,797...2,149,346
Ensembl chrNW_004936471:2,118,820...2,148,767 		JBrowse link
G Fanci FA complementation group I ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:17407155 PMID:28492532 NCBI chrNW_004936483:15,096,215...15,179,856
Ensembl chrNW_004936483:15,106,902...15,179,094 		JBrowse link
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:10,747,030...10,969,223
Ensembl chrNW_004936471:10,746,996...10,969,231 		JBrowse link
G Fbxl22 F-box and leucine rich repeat protein 22 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:24,131,046...24,139,835
Ensembl chrNW_004936471:24,132,226...24,136,676 		JBrowse link
G Fbxo22 F-box protein 22 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:36,232,749...36,255,772
Ensembl chrNW_004936471:36,232,583...36,255,672 		JBrowse link
G Fem1b fem-1 homolog B ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:28,115,873...28,135,834
Ensembl chrNW_004936471:28,115,684...28,135,825 		JBrowse link
G Fes FES proto-oncogene, tyrosine kinase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936483:16,123,938...16,135,044
Ensembl chrNW_004936483:16,123,779...16,135,044 		JBrowse link
G Fgf7 fibroblast growth factor 7 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:11,636,733...11,692,782
Ensembl chrNW_004936471:11,635,876...11,693,821 		JBrowse link
G Foxb1 forkhead box B1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:20,934,524...20,935,584
Ensembl chrNW_004936471:20,934,580...20,935,557 		JBrowse link
G Frmd5 FERM domain containing 5 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:6,926,044...7,233,006
Ensembl chrNW_004936471:6,928,398...7,232,765 		JBrowse link
G Fsd2 fibronectin type III and SPRY domain containing 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936483:17,420,009...17,465,269
Ensembl chrNW_004936483:17,422,102...17,451,465 		JBrowse link
G Fsip1 fibrous sheath interacting protein 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:3,084,564...3,270,278
Ensembl chrNW_004936471:3,083,572...3,270,326 		JBrowse link
G Furin furin, paired basic amino acid cleaving enzyme ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936483:16,136,099...16,147,945
Ensembl chrNW_004936483:16,136,099...16,144,635 		JBrowse link
G Gabpb1 GA binding protein transcription factor subunit beta 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:12,340,328...12,402,236
Ensembl chrNW_004936471:12,340,134...12,368,706 		JBrowse link
G Galk2 galactokinase 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:11,448,689...11,572,102
Ensembl chrNW_004936471:11,437,384...11,572,237 		JBrowse link
G Ganc glucosidase alpha, neutral C ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:5,578,248...5,659,917
Ensembl chrNW_004936471:5,577,657...5,662,659 		JBrowse link
G Gatm glycine amidinotransferase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:8,017,611...8,032,703
Ensembl chrNW_004936471:8,017,603...8,032,703 		JBrowse link
G Gchfr GTP cyclohydrolase I feedback regulator ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:4,166,923...4,171,676
Ensembl chrNW_004936471:4,166,506...4,171,713 		JBrowse link
G Gcnt3 glucosaminyl (N-acetyl) transferase 3, mucin type ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:20,627,441...20,631,661
Ensembl chrNW_004936471:20,628,716...20,630,014 		JBrowse link
G Gdpgp1 GDP-D-glucose phosphorylase 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:17407155 PMID:28492532 NCBI chrNW_004936483:15,967,702...15,984,201
Ensembl chrNW_004936483:15,972,428...15,973,618 		JBrowse link
G Gjd2 gap junction protein delta 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936673:1,129,750...1,133,229
Ensembl chrNW_004936673:1,128,930...1,134,905 		JBrowse link
G Glce glucuronic acid epimerase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:28,984,777...29,035,878
Ensembl chrNW_004936471:28,985,406...29,035,870 		JBrowse link
G Gldn gliomedin ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:13,234,478...13,294,306
Ensembl chrNW_004936471:13,234,478...13,292,323 		JBrowse link
G Gnb5 G protein subunit beta 5 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:13,952,462...14,001,663
Ensembl chrNW_004936471:13,955,991...13,997,073 		JBrowse link
G Golm2 golgi membrane protein 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:7,312,211...7,412,426
Ensembl chrNW_004936471:7,311,914...7,412,534 		JBrowse link
G Gpr176 G protein-coupled receptor 176 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:3,298,247...3,413,093
Ensembl chrNW_004936471:3,298,139...3,413,095 		JBrowse link
G Gramd2a GRAM domain containing 2A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:31,550,506...31,588,377
Ensembl chrNW_004936471:31,550,406...31,587,981 		JBrowse link
G Grem1 gremlin 1, DAN family BMP antagonist ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936673:1,394,743...1,399,726
Ensembl chrNW_004936673:1,395,757...1,396,311 		JBrowse link
G Gtf2a2 general transcription factor IIA subunit 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:20,636,997...20,651,986
Ensembl chrNW_004936471:20,636,202...20,652,013 		JBrowse link
G Hacd3 3-hydroxyacyl-CoA dehydratase 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:25,796,666...25,829,278
Ensembl chrNW_004936471:25,796,620...25,829,948 		JBrowse link
G Hapln3 hyaluronan and proteoglycan link protein 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:17407155 PMID:28492532 NCBI chrNW_004936483:14,849,778...14,868,094
Ensembl chrNW_004936483:14,849,183...14,859,212 		JBrowse link
G Haus2 HAUS augmin like complex subunit 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:5,826,889...5,840,872
Ensembl chrNW_004936471:5,826,950...5,840,346 		JBrowse link
G Hcn4 hyperpolarization activated cyclic nucleotide gated potassium channel 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:32,527,551...32,570,548
Ensembl chrNW_004936471:32,529,847...32,570,284 		JBrowse link
G Hdc histidine decarboxylase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:12,303,802...12,324,613
Ensembl chrNW_004936471:12,304,130...12,324,570 		JBrowse link
G Hddc3 HD domain containing 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936483:16,090,191...16,092,442
Ensembl chrNW_004936483:16,090,063...16,097,278 		JBrowse link
G Herc1 HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:24,142,227...24,330,966
Ensembl chrNW_004936471:24,141,928...24,330,967 		JBrowse link
G Hexa hexosaminidase subunit alpha ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:31,712,485...31,738,273
Ensembl chrNW_004936471:31,709,491...31,738,245 		JBrowse link
G Hmg20a high mobility group 20A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:34,838,932...34,918,407
Ensembl chrNW_004936471:34,838,587...34,918,491 		JBrowse link
G Homer2 homer scaffold protein 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936483:17,500,962...17,634,804
Ensembl chrNW_004936483:17,507,533...17,539,105 		JBrowse link
G Hykk hydroxylysine kinase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:36,520,182...36,541,087
Ensembl chrNW_004936471:36,517,689...36,541,103 		JBrowse link
G Hypk huntingtin interacting protein K ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:6,860,556...6,861,687
Ensembl chrNW_004936471:6,860,556...6,861,676 		JBrowse link
G Ice2 interactor of little elongation complex ELL subunit 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:21,373,788...21,387,635 JBrowse link
G Idh2 isocitrate dehydrogenase (NADP(+)) 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:17407155 PMID:28492532 NCBI chrNW_004936483:15,845,777...15,864,341
Ensembl chrNW_004936483:15,845,792...15,864,341 		JBrowse link
G Idh3a isocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:36,823,003...36,842,576
Ensembl chrNW_004936471:36,822,971...36,842,610 		JBrowse link
G Igdcc3 immunoglobulin superfamily DCC subclass member 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:25,618,625...25,657,417
Ensembl chrNW_004936471:25,618,662...25,657,417 		JBrowse link
G Igdcc4 immunoglobulin superfamily DCC subclass member 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:25,660,727...25,698,204
Ensembl chrNW_004936471:25,660,709...25,698,146 		JBrowse link
G Il16 interleukin 16 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936483:19,417,580...19,512,654
Ensembl chrNW_004936483:19,418,086...19,512,639 		JBrowse link
G Imp3 IMP U3 small nucleolar ribonucleoprotein 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:34,405,968...34,407,044
Ensembl chrNW_004936471:34,406,305...34,406,859 		JBrowse link
G Ino80 INO80 complex ATPase subunit ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:4,374,802...4,478,894
Ensembl chrNW_004936471:4,375,395...4,478,899 		JBrowse link
G Insyn1 inhibitory synaptic factor 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:32,909,285...32,924,208
Ensembl chrNW_004936471:32,912,369...32,923,660 		JBrowse link
G Ints14 integrator complex subunit 14 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:25,830,320...25,865,454
Ensembl chrNW_004936471:25,830,320...25,876,760 		JBrowse link
G Iqch IQ motif containing H ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:27,323,099...27,444,602
Ensembl chrNW_004936471:27,244,993...27,449,820 		JBrowse link
G Iqgap1 IQ motif containing GTPase activating protein 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:17407155 PMID:28492532 NCBI chrNW_004936483:16,489,127...16,594,712
Ensembl chrNW_004936483:16,489,133...16,594,783 		JBrowse link
G Ireb2 iron responsive element binding protein 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:36,547,552...36,601,327
Ensembl chrNW_004936471:36,547,500...36,600,636 		JBrowse link
G Isg20 interferon stimulated exonuclease gene 20 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936483:14,616,796...14,635,290
Ensembl chrNW_004936483:14,617,384...14,635,331 		JBrowse link
G Isl2 ISL LIM homeobox 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:35,840,202...35,845,822
Ensembl chrNW_004936471:35,840,214...35,845,848 		JBrowse link
G Islr immunoglobulin superfamily containing leucine rich repeat ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:33,218,841...33,221,826
Ensembl chrNW_004936471:33,218,805...33,221,785 		JBrowse link
G Islr2 immunoglobulin superfamily containing leucine rich repeat 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:33,182,217...33,191,900
Ensembl chrNW_004936471:33,187,014...33,191,134 		JBrowse link
G Itga11 integrin subunit alpha 11 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:28,140,602...28,255,239
Ensembl chrNW_004936471:28,140,503...28,255,462 		JBrowse link
G Itpka inositol-trisphosphate 3-kinase A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:4,840,113...4,848,881
Ensembl chrNW_004936471:4,840,152...4,848,881 		JBrowse link
G Ivd isovaleryl-CoA dehydrogenase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:3,871,152...3,883,521
Ensembl chrNW_004936471:3,871,148...3,885,241 		JBrowse link
G Jmjd7 jumonji domain containing 7 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:5,136,014...5,143,191
Ensembl chrNW_004936471:5,136,043...5,143,191 		JBrowse link
G Katnbl1 katanin regulatory subunit B1 like 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936673:2,677,847...2,713,645
Ensembl chrNW_004936673:2,675,095...2,713,660 		JBrowse link
G Kbtbd13 kelch repeat and BTB domain containing 13 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:25,399,004...25,401,396
Ensembl chrNW_004936471:25,399,004...25,400,380 		JBrowse link
G Kif23 kinesin family member 23 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:29,154,618...29,177,865
Ensembl chrNW_004936471:29,150,205...29,177,769 		JBrowse link
G Kif7 kinesin family member 7 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:17407155 PMID:28492532 NCBI chrNW_004936483:15,430,735...15,450,872
Ensembl chrNW_004936483:15,431,470...15,449,067 		JBrowse link
G Klhl25 kelch like family member 25 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936483:12,001,111...12,033,158
Ensembl chrNW_004936483:12,000,514...12,009,705 		JBrowse link
G Knl1 kinetochore scaffold 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:4,079,877...4,110,205
Ensembl chrNW_004936471:4,059,995...4,109,413 		JBrowse link
G Knstrn kinetochore localized astrin (SPAG5) binding protein ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:3,838,507...3,849,521
Ensembl chrNW_004936471:3,838,612...3,848,751 		JBrowse link
G Lactb lactamase beta ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:23,713,144...23,732,214
Ensembl chrNW_004936471:23,713,100...23,732,216 		JBrowse link
G Larp6 La ribonucleoprotein 6, translational regulator ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:30,369,912...30,387,272
Ensembl chrNW_004936471:30,370,440...30,385,518 		JBrowse link
G Lcmt2 leucine carboxyl methyltransferase 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:6,498,300...6,501,811
Ensembl chrNW_004936471:6,499,623...6,501,680 		JBrowse link
G Lctl lactase like ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:26,676,058...26,690,455
Ensembl chrNW_004936471:26,676,064...26,689,959 		JBrowse link
G Ldhal6b lactate dehydrogenase A like 6B ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936489:9,281,228...9,283,132 JBrowse link
G Leo1 LEO1 homolog, Paf1/RNA polymerase II complex component ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:13,753,061...13,783,990
Ensembl chrNW_004936471:13,753,030...13,784,049 		JBrowse link
G Lingo1 leucine rich repeat and Ig domain containing 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:34,657,073...34,729,662
Ensembl chrNW_004936471:34,706,198...34,731,037 		JBrowse link
G Lipc lipase C, hepatic type ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:19,604,083...19,733,721
Ensembl chrNW_004936471:19,703,236...19,733,686 		JBrowse link
G Lman1l lectin, mannose binding 1 like ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:33,785,650...33,797,726
Ensembl chrNW_004936471:33,785,748...33,797,575 		JBrowse link
G LOC101954950 aromatase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:13,107,603...13,136,910
Ensembl chrNW_004936471:13,107,603...13,136,910 		JBrowse link
G LOC101969148 cytochrome P450 1A1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:33,682,730...33,688,332
Ensembl chrNW_004936471:33,682,730...33,688,332 		JBrowse link
G LOC101969421 cytochrome P450 1A2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:33,704,616...33,709,455
Ensembl chrNW_004936471:33,703,792...33,709,484 		JBrowse link
G LOC101971648 cytochrome c oxidase subunit 5A, mitochondrial ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:33,874,638...33,887,377
Ensembl chrNW_004936471:33,872,842...33,887,400 		JBrowse link
G LOC101973699 arpin ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:17407155 PMID:28492532 NCBI chrNW_004936483:15,664,972...15,682,795
Ensembl chrNW_004936483:15,664,856...15,682,834 		JBrowse link
G LOC101974698 transmembrane protein 202 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:31,756,435...31,762,242 JBrowse link
G LOC101975820 cholesterol side-chain cleavage enzyme, mitochondrial ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:33,367,810...33,380,764
Ensembl chrNW_004936471:33,367,810...33,380,764 		JBrowse link
G Loxl1 lysyl oxidase like 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:33,075,542...33,099,877
Ensembl chrNW_004936471:33,075,461...33,099,910 		JBrowse link
G Lpcat4 lysophosphatidylcholine acyltransferase 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936673:2,843,798...2,851,937
Ensembl chrNW_004936673:2,840,099...2,851,240 		JBrowse link
G Lrrc49 leucine rich repeat containing 49 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:30,416,179...30,578,312
Ensembl chrNW_004936471:30,416,174...30,577,874 		JBrowse link
G Lrrc57 leucine rich repeat containing 57 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:5,822,165...5,826,894
Ensembl chrNW_004936471:5,820,579...5,827,084 		JBrowse link
G Ltk leukocyte receptor tyrosine kinase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:4,849,261...4,857,892
Ensembl chrNW_004936471:4,849,219...4,855,678 		JBrowse link
G Lysmd2 LysM domain containing 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:13,555,166...13,570,268
Ensembl chrNW_004936471:13,555,157...13,562,256 		JBrowse link
G Man2a2 mannosidase alpha class 2A member 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936483:16,096,522...16,116,402
Ensembl chrNW_004936483:16,094,466...16,116,569 		JBrowse link
G Man2c1 mannosidase alpha class 2C member 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:34,193,314...34,206,010
Ensembl chrNW_004936471:34,193,316...34,204,656 		JBrowse link
G Map1a microtubule associated protein 1A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:6,685,565...6,706,860
Ensembl chrNW_004936471:6,685,728...6,705,477 		JBrowse link
G Map2k1 mitogen-activated protein kinase kinase 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:26,589,251...26,628,302
Ensembl chrNW_004936471:26,589,161...26,628,302 		JBrowse link
G Map2k5 mitogen-activated protein kinase kinase 5 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:27,491,255...27,728,572
Ensembl chrNW_004936471:27,491,342...27,728,607 		JBrowse link
G Mapda N6-Methyl-AMP deaminase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:6,501,887...6,541,796
Ensembl chrNW_004936471:6,501,891...6,524,141 		JBrowse link
G Mapk6 mitogen-activated protein kinase 6 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:13,849,169...13,879,595 JBrowse link
G Mapkbp1 mitogen-activated protein kinase binding protein 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:5,078,259...5,135,937
Ensembl chrNW_004936471:5,080,944...5,133,783 		JBrowse link
G Megf11 multiple EGF like domains 11 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:26,119,146...26,437,057
Ensembl chrNW_004936471:26,114,429...26,437,449 		JBrowse link
G Meis2 Meis homeobox 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:800,510...1,006,054
Ensembl chrNW_004936471:798,739...1,006,047 		JBrowse link
G Mesd mesoderm development LRP chaperone ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936483:19,697,241...19,706,719
Ensembl chrNW_004936483:19,696,739...19,708,447 		JBrowse link
G Mesp1 mesoderm posterior bHLH transcription factor 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:17407155 PMID:28492532 NCBI chrNW_004936483:15,533,264...15,534,576
Ensembl chrNW_004936483:15,533,522...15,534,576 		JBrowse link
G Mesp2 mesoderm posterior bHLH transcription factor 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:17407155 PMID:28492532 NCBI chrNW_004936483:15,555,084...15,557,060
Ensembl chrNW_004936483:15,555,084...15,557,060 		JBrowse link
G Mex3b mex-3 RNA binding family member B ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936483:18,766,000...18,771,924
Ensembl chrNW_004936483:18,766,000...18,771,949 		JBrowse link
G Mfap1 microfibril associated protein 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:6,863,262...6,876,669
Ensembl chrNW_004936471:6,860,497...6,876,674 		JBrowse link
G Mfge8 milk fat globule EGF and factor V/VIII domain containing ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:17407155 PMID:28492532 NCBI chrNW_004936483:14,868,171...14,880,552
Ensembl chrNW_004936483:14,865,033...14,880,794 		JBrowse link
G Mga MAX dimerization protein MGA ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:4,946,770...5,073,925
Ensembl chrNW_004936471:4,946,124...5,073,849 		JBrowse link
G Minar1 membrane integral NOTCH2 associated receptor 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:37,573,475...37,607,329
Ensembl chrNW_004936471:37,573,464...37,610,833 		JBrowse link
G Mindy2 MINDY lysine 48 deubiquitinase 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:19,937,550...20,015,138
Ensembl chrNW_004936471:19,937,254...20,012,777 		JBrowse link
G Mns1 meiosis specific nuclear structural 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:17,767,063...17,798,507
Ensembl chrNW_004936471:17,770,823...17,798,523 		JBrowse link
G Morf4l1 mortality factor 4 like 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:37,073,920...37,097,216
Ensembl chrNW_004936471:37,073,895...37,097,235 		JBrowse link
G Mpi mannose phosphate isomerase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:33,845,003...33,854,263
Ensembl chrNW_004936471:33,844,815...33,854,366 		JBrowse link
G Mrpl46 mitochondrial ribosomal protein L46 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936483:14,488,549...14,497,772
Ensembl chrNW_004936483:14,488,666...14,497,747 		JBrowse link
G Mrps11 mitochondrial ribosomal protein S11 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936483:14,498,101...14,508,713
Ensembl chrNW_004936483:14,500,284...14,508,302 		JBrowse link
G Mtfmt mitochondrial methionyl-tRNA formyltransferase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:25,334,544...25,352,520
Ensembl chrNW_004936471:25,335,068...25,352,480 		JBrowse link
G Mthfs methenyltetrahydrofolate synthetase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:37,910,856...37,964,655
Ensembl chrNW_004936471:37,902,554...37,964,812 		JBrowse link
G Myef2 myelin expression factor 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:10,492,548...10,519,549
Ensembl chrNW_004936471:10,492,803...10,519,059 		JBrowse link
G Myo1e myosin IE ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:20,244,424...20,435,604
Ensembl chrNW_004936471:20,244,397...20,435,648 		JBrowse link
G Myo5a myosin VA ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:14,105,832...14,257,386
Ensembl chrNW_004936471:14,111,841...14,254,246 		JBrowse link
G Myo5c myosin VC ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:14,003,478...14,094,560
Ensembl chrNW_004936471:14,003,515...14,094,587 		JBrowse link
G Myo9a myosin IXA ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:31,255,387...31,548,819
Ensembl chrNW_004936471:31,259,652...31,473,926 		JBrowse link
G Myzap myocardial zonula adherens protein ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:18,853,797...18,940,362
Ensembl chrNW_004936471:18,853,923...18,939,507 		JBrowse link
G Ndufaf1 NADH:ubiquinone oxidoreductase complex assembly factor 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:4,733,707...4,750,390
Ensembl chrNW_004936471:4,731,578...4,750,444 		JBrowse link
G Nedd4 NEDD4 E3 ubiquitin protein ligase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:17,254,777...17,374,725
Ensembl chrNW_004936471:17,252,234...17,374,804 		JBrowse link
G Neil1 nei like DNA glycosylase 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:34,184,273...34,192,675
Ensembl chrNW_004936471:34,186,729...34,192,501 		JBrowse link
G Neo1 neogenin 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:32,345,578...32,517,245
Ensembl chrNW_004936471:32,292,745...32,516,624 		JBrowse link
G Ngrn neugrin, neurite outgrowth associated ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:17407155 PMID:28492532 NCBI chrNW_004936483:15,994,621...16,001,078
Ensembl chrNW_004936483:15,994,660...16,001,078 		JBrowse link
G Nmb neuromedin B ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936483:16,712,382...16,715,397
Ensembl chrNW_004936483:16,712,363...16,715,749 		JBrowse link
G Nop10 NOP10 ribonucleoprotein ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936673:2,829,599...2,830,407 JBrowse link
G Nox5 NADPH oxidase 5 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:28,777,926...28,838,700 JBrowse link
G Nptn neuroplastin ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:32,726,953...32,813,429
Ensembl chrNW_004936471:32,744,766...32,813,543 		JBrowse link
G Nr2e3 nuclear receptor subfamily 2 group E member 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:31,229,322...31,236,093
Ensembl chrNW_004936471:31,229,564...31,235,654 		JBrowse link
G Nrg4 neuregulin 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:36,062,579...36,240,613
Ensembl chrNW_004936471:36,134,061...36,240,711 		JBrowse link
G Nsmce2 NSE2 (MMS21) homolog, SMC5-SMC6 complex SUMO ligase ISO OMIM:210900 MouseDO NCBI chrNW_004936470:22,447,278...22,667,302
Ensembl chrNW_004936470:22,445,433...22,667,559 		JBrowse link
G Ntrk3 neurotrophic receptor tyrosine kinase 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936483:13,912,904...14,291,881
Ensembl chrNW_004936483:13,909,109...14,291,887 		JBrowse link
G Nusap1 nucleolar and spindle associated protein 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:4,705,757...4,732,446
Ensembl chrNW_004936471:4,705,866...4,731,903 		JBrowse link
G Nutm1 NUT midline carcinoma family member 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936673:2,832,447...2,843,428
Ensembl chrNW_004936673:2,832,400...2,842,703 		JBrowse link
G Oaz2 ornithine decarboxylase antizyme 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:25,069,035...25,081,640
Ensembl chrNW_004936471:25,070,127...25,081,431 		JBrowse link
G Oip5 Opa interacting protein 5 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:4,692,482...4,705,643
Ensembl chrNW_004936471:4,692,099...4,705,984 		JBrowse link
G Onecut1 one cut homeobox 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532
G Pak6 p21 (RAC1) activated kinase 6 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:3,692,058...3,747,355
Ensembl chrNW_004936471:3,713,406...3,747,356 		JBrowse link
G Paqr5 progestin and adipoQ receptor family member 5 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:29,106,618...29,141,320
Ensembl chrNW_004936471:29,062,942...29,141,449 		JBrowse link
G Parp16 poly(ADP-ribose) polymerase family member 16 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:25,561,136...25,580,801
Ensembl chrNW_004936471:25,562,250...25,580,587 		JBrowse link
G Parp6 poly(ADP-ribose) polymerase family member 6 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:31,625,231...31,656,204
Ensembl chrNW_004936471:31,625,231...31,655,208 		JBrowse link
G Patl2 PAT1 homolog 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:7,618,841...7,630,214
Ensembl chrNW_004936471:7,620,215...7,630,214 		JBrowse link
G Pclaf PCNA clamp associated factor ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:24,797,291...24,812,196
Ensembl chrNW_004936471:24,797,393...24,808,227 		JBrowse link
G Pdcd7 programmed cell death 7 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:25,432,956...25,444,036
Ensembl chrNW_004936471:25,434,771...25,444,852 		JBrowse link
G Pde8a phosphodiesterase 8A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936483:17,009,696...17,163,105
Ensembl chrNW_004936483:17,095,318...17,163,114 		JBrowse link
G Pdia3 protein disulfide isomerase family A member 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:6,809,181...6,834,189
Ensembl chrNW_004936471:6,809,195...6,836,169 		JBrowse link
G Peak1 pseudopodium enriched atypical kinase 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:34,918,911...35,199,046
Ensembl chrNW_004936471:35,099,697...35,193,432 		JBrowse link
G Pex11a peroxisomal biogenesis factor 11 alpha ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:17407155 PMID:28492532 NCBI chrNW_004936483:15,474,484...15,480,527
Ensembl chrNW_004936483:15,472,949...15,480,648 		JBrowse link
G Pias1 protein inhibitor of activated STAT 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:27,925,153...28,055,632
Ensembl chrNW_004936471:27,925,153...28,055,632 		JBrowse link
G Pierce2 piercer of microtubule wall 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:16,898,378...16,902,346
Ensembl chrNW_004936471:16,898,324...16,902,677 		JBrowse link
G Pif1 PIF1 5'-to-3' DNA helicase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:25,165,850...25,173,503
Ensembl chrNW_004936471:25,166,325...25,173,535 		JBrowse link
G Pigb phosphatidylinositol glycan anchor biosynthesis class B ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:16,828,910...16,857,140
Ensembl chrNW_004936471:16,829,159...16,861,536 		JBrowse link
G Pkm pyruvate kinase M1/2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:31,589,322...31,617,891
Ensembl chrNW_004936471:31,589,324...31,617,873 		JBrowse link
G Pla2g4b phospholipase A2 group IVB ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:5,145,736...5,153,930
Ensembl chrNW_004936471:5,145,502...5,153,498 		JBrowse link
G Pla2g4d phospholipase A2 group IVD ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:5,386,762...5,409,165
Ensembl chrNW_004936471:5,386,762...5,409,174 		JBrowse link
G Pla2g4e phospholipase A2 group IVE ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:5,300,932...5,370,150
Ensembl chrNW_004936471:5,302,688...5,370,182 		JBrowse link
G Pla2g4f phospholipase A2 group IVF ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:5,439,389...5,454,437
Ensembl chrNW_004936471:5,439,866...5,454,331 		JBrowse link
G Plcb2 phospholipase C beta 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:3,756,978...3,776,452
Ensembl chrNW_004936471:3,756,970...3,776,392 		JBrowse link
G Plekho2 pleckstrin homology domain containing O2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:25,184,128...25,218,035
Ensembl chrNW_004936471:25,190,570...25,207,506 		JBrowse link
G Plin1 perilipin 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:17407155 PMID:28492532 NCBI chrNW_004936483:15,457,299...15,470,674
Ensembl chrNW_004936483:15,457,297...15,470,350 		JBrowse link
G Pml PML nuclear body scaffold ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:33,135,186...33,173,218
Ensembl chrNW_004936471:33,135,164...33,177,666 		JBrowse link
G Polg DNA polymerase gamma, catalytic subunit ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:17407155 PMID:28492532 NCBI chrNW_004936483:15,178,947...15,196,277
Ensembl chrNW_004936483:15,179,342...15,195,258 		JBrowse link
G Polr2m RNA polymerase II subunit M ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:18,971,793...18,977,332
Ensembl chrNW_004936471:18,971,963...18,977,239 		JBrowse link
G Ppib peptidylprolyl isomerase B ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:24,633,769...24,640,246
Ensembl chrNW_004936471:24,632,311...24,640,316 		JBrowse link
G Ppip5k1 diphosphoinositol pentakisphosphate kinase 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:6,707,865...6,751,064
Ensembl chrNW_004936471:6,707,893...6,751,045 		JBrowse link
G Ppp1r14d protein phosphatase 1 regulatory inhibitor subunit 14D ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:4,208,747...4,230,526
Ensembl chrNW_004936471:4,208,762...4,230,526 		JBrowse link
G Prc1 protein regulator of cytokinesis 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936483:16,034,577...16,061,856
Ensembl chrNW_004936483:16,034,550...16,060,909 		JBrowse link
G Prtg protogenin ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:17,068,125...17,188,783
Ensembl chrNW_004936471:17,069,230...17,188,733 		JBrowse link
G Psma4 proteasome 20S subunit alpha 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:36,508,045...36,516,033
Ensembl chrNW_004936471:36,508,017...36,516,062 		JBrowse link
G Pstpip1 proline-serine-threonine phosphatase interacting protein 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:35,272,263...35,294,942
Ensembl chrNW_004936471:35,272,137...35,313,154 		JBrowse link
G Ptpn9 protein tyrosine phosphatase non-receptor type 9 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:34,273,777...34,361,326
Ensembl chrNW_004936471:34,273,135...34,361,265 		JBrowse link
G Pygo1 pygopus family PHD finger 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:16,990,276...17,028,543
Ensembl chrNW_004936471:16,995,029...17,028,549 		JBrowse link
G Rab11a RAB11A, member RAS oncogene family ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:26,089,216...26,111,245
Ensembl chrNW_004936471:26,088,852...26,113,433 		JBrowse link
G Rab27a RAB27A, member RAS oncogene family ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:16,738,204...16,815,561
Ensembl chrNW_004936471:16,738,230...16,815,943 		JBrowse link
G Rab8b RAB8B, member RAS oncogene family ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:23,768,460...23,832,072
Ensembl chrNW_004936471:23,768,415...23,834,129 		JBrowse link
G Rad51 RAD51 recombinase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:4,119,020...4,136,811
Ensembl chrNW_004936471:4,114,530...4,136,248 		JBrowse link
G Ramac RNA guanine-7 methyltransferase activating subunit ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936483:17,634,873...17,643,740 JBrowse link
G Rasgrf1 Ras protein specific guanine nucleotide releasing factor 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:37,173,595...37,278,356
Ensembl chrNW_004936471:37,171,297...37,278,529 		JBrowse link
G Rasgrp1 RAS guanyl releasing protein 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:2,152,231...2,222,260
Ensembl chrNW_004936471:2,153,880...2,222,229 		JBrowse link
G Rasl12 RAS like family 12 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:25,379,587...25,392,408
Ensembl chrNW_004936471:25,379,100...25,392,917 		JBrowse link
G Rbpms2 RNA binding protein, mRNA processing factor 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:25,103,766...25,128,289
Ensembl chrNW_004936471:25,103,693...25,128,295 		JBrowse link
G Rccd1 RCC1 domain containing 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936483:16,049,288...16,071,275
Ensembl chrNW_004936483:16,065,512...16,070,424 		JBrowse link
G Rcn2 reticulocalbin 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:35,347,775...35,364,512
Ensembl chrNW_004936471:35,347,298...35,364,772 		JBrowse link
G Rec114 REC114 meiotic recombination protein ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:32,639,208...32,746,136 JBrowse link
G Rfx7 regulatory factor X7 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:17,465,926...17,588,838
Ensembl chrNW_004936471:17,465,925...17,588,844 		JBrowse link
G Rhcg Rh family C glycoprotein ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:17407155 PMID:28492532 NCBI chrNW_004936483:15,329,147...15,353,301
Ensembl chrNW_004936483:15,328,364...15,353,404 		JBrowse link
G Rhov ras homolog family member V ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:4,265,581...4,267,655
Ensembl chrNW_004936471:4,265,567...4,267,694 		JBrowse link
G Rlbp1 retinaldehyde binding protein 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:17407155 PMID:28492532 NCBI chrNW_004936483:15,086,485...15,097,980
Ensembl chrNW_004936483:15,084,756...15,096,072 		JBrowse link
G Rmdn3 regulator of microtubule dynamics 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:4,139,963...4,158,519
Ensembl chrNW_004936471:4,139,583...4,158,491 		JBrowse link
G Rnf111 ring finger protein 111 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:20,139,798...20,210,291
Ensembl chrNW_004936471:20,139,413...20,211,130 		JBrowse link
G Rora RAR related orphan receptor A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:21,402,056...21,567,908
Ensembl chrNW_004936471:21,400,589...22,069,643 		JBrowse link
G Rpap1 RNA polymerase II associated protein 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:4,860,327...4,887,283
Ensembl chrNW_004936471:4,860,291...4,887,540 		JBrowse link
G Rpl4 ribosomal protein L4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:26,635,838...26,641,877
Ensembl chrNW_004936471:26,635,106...26,642,003 		JBrowse link
G Rplp1 ribosomal protein lateral stalk subunit P1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:29,182,772...29,184,750
Ensembl chrNW_004936471:29,182,729...29,186,737 		JBrowse link
G Rps17 ribosomal protein S17 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936483:17,211,129...17,214,509
Ensembl chrNW_004936483:17,210,952...17,214,735 		JBrowse link
G Rps27l ribosomal protein S27 like ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:23,738,896...23,742,355
Ensembl chrNW_004936471:23,738,823...23,745,382 		JBrowse link
G Rpusd2 RNA pseudouridine synthase domain containing 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:4,034,088...4,038,746
Ensembl chrNW_004936471:4,034,001...4,039,137 		JBrowse link
G Rsl24d1 ribosomal L24 domain containing 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:16,721,855...16,735,345
Ensembl chrNW_004936471:16,721,710...16,735,335 		JBrowse link
G Rtf1 RTF1 homolog, Paf1/RNA polymerase II complex component ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:4,770,060...4,829,562
Ensembl chrNW_004936471:4,770,063...4,829,578 		JBrowse link
G Ryr3 ryanodine receptor 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936673:2,078,095...2,434,872
Ensembl chrNW_004936673:1,932,755...2,434,066 		JBrowse link
G Saxo2 stabilizer of axonemal microtubules 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936483:18,530,278...18,550,662
Ensembl chrNW_004936483:18,529,890...18,550,659 		JBrowse link
G Scamp2 secretory carrier membrane protein 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:33,815,251...33,838,565
Ensembl chrNW_004936471:33,815,203...33,838,628 		JBrowse link
G Scamp5 secretory carrier membrane protein 5 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:33,936,721...33,958,439
Ensembl chrNW_004936471:33,936,531...33,958,573
Ensembl chrNW_004936471:33,936,531...33,958,573 		JBrowse link
G Scaper S-phase cyclin A associated protein in the ER ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:35,414,507...35,834,438
Ensembl chrNW_004936471:35,416,571...35,835,048 		JBrowse link
G Scg3 secretogranin III ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:13,514,072...13,552,250
Ensembl chrNW_004936471:13,514,073...13,555,139 		JBrowse link
G Scg5 secretogranin V ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936673:1,312,183...1,367,205
Ensembl chrNW_004936673:1,311,861...1,367,237 		JBrowse link
G Sec11a SEC11 homolog A, signal peptidase complex subunit ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936483:16,724,674...16,764,586
Ensembl chrNW_004936483:16,724,562...16,764,565 		JBrowse link
G Secisbp2l SECIS binding protein 2 like ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:11,302,767...11,357,275
Ensembl chrNW_004936471:11,302,767...11,357,275 		JBrowse link
G Sema4b semaphorin 4B ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:17407155 PMID:28492532 NCBI chrNW_004936483:15,937,132...15,963,170
Ensembl chrNW_004936483:15,937,398...15,961,911 		JBrowse link
G Sema6d semaphorin 6D ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:10,036,279...10,091,699
Ensembl chrNW_004936471:10,077,222...10,089,286 		JBrowse link
G Sema7a semaphorin 7A (JohnMiltonHagen blood group) ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:33,430,589...33,454,353
Ensembl chrNW_004936471:33,431,889...33,454,311 		JBrowse link
G Senp8 SUMO peptidase family member, NEDD8 specific ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:31,516,486...31,539,214
Ensembl chrNW_004936471:31,517,000...31,536,201 		JBrowse link
G Serf2 small EDRK-rich factor 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:6,851,916...6,853,989 JBrowse link
G Serinc4 serine incorporator 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:6,854,102...6,860,106
Ensembl chrNW_004936471:6,853,921...6,860,164 		JBrowse link
G Sh2d7 SH2 domain containing 7 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:36,880,275...36,885,096 JBrowse link
G Sh3gl3 SH3 domain containing GRB2 like 3, endophilin A3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936483:18,051,023...18,176,514
Ensembl chrNW_004936483:18,050,899...18,176,519 		JBrowse link
G Shc4 SHC adaptor protein 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:11,144,635...11,271,673
Ensembl chrNW_004936471:11,142,429...11,271,557 		JBrowse link
G Shf Src homology 2 domain containing F ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:7,881,484...7,901,583
Ensembl chrNW_004936471:7,879,141...7,901,589 		JBrowse link
G Sin3a SIN3 transcription regulator family member A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:34,206,084...34,260,538
Ensembl chrNW_004936471:34,204,524...34,260,564 		JBrowse link
G Skic8 SKI8 subunit of superkiller complex ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:36,704,236...36,723,675
Ensembl chrNW_004936471:36,704,160...36,723,669 		JBrowse link
G Skor1 SKI family transcriptional corepressor 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:27,745,912...27,754,058
Ensembl chrNW_004936471:27,745,912...27,754,058 		JBrowse link
G Slc12a1 solute carrier family 12 member 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:10,564,530...10,648,124
Ensembl chrNW_004936471:10,564,535...10,646,977 		JBrowse link
G Slc12a6 solute carrier family 12 member 6 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936673:2,731,454...2,825,179
Ensembl chrNW_004936673:2,727,884...2,824,977 		JBrowse link
G Slc24a1 solute carrier family 24 member 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:25,872,854...25,909,102
Ensembl chrNW_004936471:25,872,423...25,908,158 		JBrowse link
G Slc24a5 solute carrier family 24 member 5 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:10,470,078...10,492,334
Ensembl chrNW_004936471:10,470,046...10,493,104 		JBrowse link
G Slc27a2 solute carrier family 27 member 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:12,259,779...12,298,760
Ensembl chrNW_004936471:12,259,734...12,298,760 		JBrowse link
G Slc28a1 solute carrier family 28 member 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936483:16,929,896...16,976,560
Ensembl chrNW_004936483:16,929,896...16,975,969 		JBrowse link
G Slc28a2 solute carrier family 28 member 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:7,937,490...7,967,568
Ensembl chrNW_004936471:7,937,490...7,967,568 		JBrowse link
G Slc30a4 solute carrier family 30 member 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:8,125,839...8,155,720
Ensembl chrNW_004936471:8,125,759...8,155,726 		JBrowse link
G Slc51b SLC51 subunit beta ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:25,355,849...25,379,481
Ensembl chrNW_004936471:25,355,761...25,381,763 		JBrowse link
G Sltm SAFB like transcription modulator ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:20,038,137...20,082,410
Ensembl chrNW_004936471:20,039,081...20,081,721 		JBrowse link
G Smad3 SMAD family member 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:27,080,662...27,185,861
Ensembl chrNW_004936471:27,080,575...27,189,793 		JBrowse link
G Smad6 SMAD family member 6 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:26,781,420...26,856,556
Ensembl chrNW_004936471:26,781,549...26,856,571 		JBrowse link
G Snap23 synaptosome associated protein 23 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:5,784,070...5,818,644
Ensembl chrNW_004936471:5,784,054...5,820,571 		JBrowse link
G Snapc5 small nuclear RNA activating complex polypeptide 5 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:26,629,765...26,634,640
Ensembl chrNW_004936471:26,627,778...26,634,763 		JBrowse link
G Snupn snurportin 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:34,373,492...34,393,666
Ensembl chrNW_004936471:34,373,468...34,393,692 		JBrowse link
G Snx1 sorting nexin 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:24,569,677...24,617,016
Ensembl chrNW_004936471:24,569,609...24,619,826 		JBrowse link
G Snx22 sorting nexin 22 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:24,630,337...24,633,281
Ensembl chrNW_004936471:24,630,428...24,633,702 		JBrowse link
G Snx33 sorting nexin 33 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:34,414,086...34,425,236
Ensembl chrNW_004936471:34,414,474...34,428,784 		JBrowse link
G Sord sorbitol dehydrogenase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:7,760,097...7,805,475
Ensembl chrNW_004936471:7,760,052...7,795,671 		JBrowse link
G Spesp1 sperm equatorial segment protein 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:28,730,571...28,747,066 JBrowse link
G Spg11 SPG11 vesicle trafficking associated, spatacsin ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:7,540,647...7,618,783 JBrowse link
G Spg21 SPG21 abhydrolase domain containing, maspardin ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:25,301,385...25,327,835 JBrowse link
G Spint1 serine peptidase inhibitor, Kunitz type 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:4,238,883...4,251,291
Ensembl chrNW_004936471:4,238,845...4,251,350 		JBrowse link
G Sppl2a signal peptide peptidase like 2A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:12,700,777...12,730,509
Ensembl chrNW_004936471:12,701,014...12,729,995 		JBrowse link
G Spred1 sprouty related EVH1 domain containing 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:1,952,532...2,039,561
Ensembl chrNW_004936471:1,952,532...2,037,501 		JBrowse link
G Sptbn5 spectrin beta, non-erythrocytic 5 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:5,154,294...5,195,083 JBrowse link
G Sqor sulfide quinone oxidoreductase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:8,248,195...8,296,369
Ensembl chrNW_004936471:8,248,172...8,296,383 		JBrowse link
G Srp14 signal recognition particle 14 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:3,527,232...3,530,872 JBrowse link
G Stard5 StAR related lipid transfer domain containing 5 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936483:19,406,273...19,416,619
Ensembl chrNW_004936483:19,406,223...19,419,081 		JBrowse link
G Stard9 StAR related lipid transfer domain containing 9 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:5,842,887...5,986,988 JBrowse link
G Stoml1 stomatin like 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:33,123,662...33,133,017
Ensembl chrNW_004936471:33,124,345...33,132,931 		JBrowse link
G Stra6 signaling receptor and transporter of retinol STRA6 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:33,224,174...33,245,076
Ensembl chrNW_004936471:33,224,859...33,245,030 		JBrowse link
G Strc stereocilin ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:6,760,289...6,777,425
Ensembl chrNW_004936471:6,760,294...6,777,425 		JBrowse link
G Tbc1d21 TBC1 domain family member 21 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:33,033,805...33,042,945
Ensembl chrNW_004936471:33,033,766...33,042,945 		JBrowse link
G Tbc1d2b TBC1 domain family member 2B ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:36,905,690...36,976,916
Ensembl chrNW_004936471:36,905,684...36,981,220 		JBrowse link
G Tcf12 transcription factor 12 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:18,223,221...18,576,922 JBrowse link
G Terb2 telomere repeat binding bouquet formation protein 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:7,713,562...7,728,720
Ensembl chrNW_004936471:7,713,543...7,727,806 		JBrowse link
G Tex9 testis expressed 9 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:17,722,526...17,764,037
Ensembl chrNW_004936471:17,722,526...17,785,374 		JBrowse link
G Tgm5 transglutaminase 5 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:6,406,040...6,442,026
Ensembl chrNW_004936471:6,406,711...6,442,026 		JBrowse link
G Tgm7 transglutaminase 7 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:6,448,051...6,471,521
Ensembl chrNW_004936471:6,448,157...6,460,354 		JBrowse link
G Thap10 THAP domain containing 10 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:30,415,017...30,416,343 JBrowse link
G Thbs1 thrombospondin 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:3,064,466...3,081,125
Ensembl chrNW_004936471:3,064,422...3,081,949 		JBrowse link
G Thsd4 thrombospondin type 1 domain containing 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:31,002,241...31,213,057
Ensembl chrNW_004936471:30,654,136...31,207,266 		JBrowse link
G Ticrr TOPBP1 interacting checkpoint and replication regulator ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:17407155 PMID:28492532 NCBI chrNW_004936483:15,381,486...15,422,600 JBrowse link
G Tipin TIMELESS interacting protein ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:26,516,511...26,531,403
Ensembl chrNW_004936471:26,517,042...26,531,410 		JBrowse link
G Tle3 TLE family member 3, transcriptional corepressor ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:29,682,313...29,730,229
Ensembl chrNW_004936471:29,682,947...29,731,031 		JBrowse link
G Tln2 talin 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:23,073,267...23,479,286
Ensembl chrNW_004936471:23,135,006...23,479,288 		JBrowse link
G Tlnrd1 talin rod domain containing 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936483:19,684,328...19,686,958
Ensembl chrNW_004936483:19,685,354...19,686,442 		JBrowse link
G Tm6sf1 transmembrane 6 superfamily member 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936483:17,742,721...17,770,165
Ensembl chrNW_004936483:17,742,721...17,771,697 		JBrowse link
G Tmc3 transmembrane channel like 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936483:19,364,956...19,399,773
Ensembl chrNW_004936483:19,364,956...19,399,773 		JBrowse link
G Tmco5a transmembrane and coiled-coil domains 5A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:1,702,243...1,715,822
Ensembl chrNW_004936471:1,702,243...1,715,822 		JBrowse link
G Tmed3 transmembrane p24 trafficking protein 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:37,478,225...37,486,795
Ensembl chrNW_004936471:37,478,097...37,486,809 		JBrowse link
G Tmem266 transmembrane protein 266 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:35,953,997...36,062,931
Ensembl chrNW_004936471:35,953,982...36,062,934 		JBrowse link
G Tmem62 transmembrane protein 62 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:6,323,196...6,365,111
Ensembl chrNW_004936471:6,323,531...6,364,679 		JBrowse link
G Tmem87a transmembrane protein 87A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:5,517,362...5,578,290
Ensembl chrNW_004936471:5,516,332...5,578,290 		JBrowse link
G Tmod2 tropomodulin 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:13,602,769...13,636,258
Ensembl chrNW_004936471:13,602,732...13,729,228 		JBrowse link
G Tnfaip8l3 TNF alpha induced protein 8 like 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:12,952,064...12,987,178
Ensembl chrNW_004936471:12,951,701...12,987,232 		JBrowse link
G Tp53bp1 tumor protein p53 binding protein 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:6,589,395...6,668,242
Ensembl chrNW_004936471:6,589,564...6,668,305 		JBrowse link
G Tpm1 tropomyosin 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:23,643,645...23,670,775
Ensembl chrNW_004936471:23,643,613...23,670,775 		JBrowse link
G Trim69 tripartite motif containing 69 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:7,664,655...7,702,243
Ensembl chrNW_004936471:7,665,218...7,702,243 		JBrowse link
G Trip4 thyroid hormone receptor interactor 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:24,795,718...24,868,440
Ensembl chrNW_004936471:24,811,841...24,869,966 		JBrowse link
G Trpm7 transient receptor potential cation channel subfamily M member 7 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:12,564,617...12,666,229
Ensembl chrNW_004936471:12,565,054...12,665,962 		JBrowse link
G Tspan3 tetraspanin 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:35,237,140...35,264,347
Ensembl chrNW_004936471:35,236,830...35,264,596 		JBrowse link
G Ttbk2 tau tubulin kinase 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:6,003,294...6,108,677
Ensembl chrNW_004936471:6,009,091...6,154,529 		JBrowse link
G Tubgcp4 tubulin gamma complex component 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:6,542,295...6,588,484
Ensembl chrNW_004936471:6,541,713...6,591,692 		JBrowse link
G Tyro3 TYRO3 protein tyrosine kinase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:4,893,185...4,910,779
Ensembl chrNW_004936471:4,893,078...4,910,859 		JBrowse link
G Uaca uveal autoantigen with coiled-coil domains and ankyrin repeats ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:30,213,742...30,312,873
Ensembl chrNW_004936471:30,211,588...30,363,992 		JBrowse link
G Ubap1l ubiquitin associated protein 1 like ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:25,411,891...25,431,264
Ensembl chrNW_004936471:25,410,482...25,431,424 		JBrowse link
G Ube2q2 ubiquitin conjugating enzyme E2 Q2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:36,257,454...36,314,634
Ensembl chrNW_004936471:36,257,454...36,314,634 		JBrowse link
G Ubl7 ubiquitin like 7 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:33,464,321...33,478,584
Ensembl chrNW_004936471:33,464,466...33,478,667 		JBrowse link
G Ubr1 ubiquitin protein ligase E3 component n-recognin 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:6,171,655...6,313,853
Ensembl chrNW_004936471:6,171,593...6,313,937 		JBrowse link
G Ulk3 unc-51 like kinase 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:33,807,825...33,814,520
Ensembl chrNW_004936471:33,807,010...33,814,573 		JBrowse link
G Unc13c unc-13 homolog C ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:15,691,357...16,225,590
Ensembl chrNW_004936471:15,691,647...16,224,147 		JBrowse link
G Unc45a unc-45 myosin chaperone A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936483:16,072,421...16,087,286
Ensembl chrNW_004936483:16,072,663...16,087,218 		JBrowse link
G Ung uracil DNA glycosylase ISO CTD Direct Evidence: marker/mechanism CTD PMID:2106500 NCBI chrNW_004936769:911,296...922,770
Ensembl chrNW_004936769:910,838...922,726 		JBrowse link
G Usp3 ubiquitin specific peptidase 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:24,032,644...24,130,543
Ensembl chrNW_004936471:24,035,655...24,130,997 		JBrowse link
G Usp50 ubiquitin specific peptidase 50 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:12,522,361...12,552,611
Ensembl chrNW_004936471:12,521,731...12,552,346 		JBrowse link
G Usp8 ubiquitin specific peptidase 8 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:12,463,189...12,524,148
Ensembl chrNW_004936471:12,463,120...12,520,674 		JBrowse link
G Vps13c vacuolar protein sorting 13 homolog C ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:22,661,899...22,842,144
Ensembl chrNW_004936471:22,661,447...22,842,150 		JBrowse link
G Vps18 VPS18 core subunit of CORVET and HOPS complexes ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:4,289,487...4,297,634
Ensembl chrNW_004936471:4,289,415...4,298,852 		JBrowse link
G Vps39 VPS39 subunit of HOPS complex ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:5,457,363...5,512,966
Ensembl chrNW_004936471:5,457,035...5,512,625 		JBrowse link
G Wdr72 WD repeat domain 72 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:15,233,828...15,416,415
Ensembl chrNW_004936471:15,233,840...15,416,415 		JBrowse link
G Wdr73 WD repeat domain 73 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936483:16,698,878...16,711,510
Ensembl chrNW_004936483:16,697,086...16,711,518 		JBrowse link
G Wdr76 WD repeat domain 76 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:6,878,350...6,923,951
Ensembl chrNW_004936471:6,878,584...6,923,921 		JBrowse link
G Wdr93 WD repeat domain 93 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:17407155 PMID:28492532 NCBI chrNW_004936483:15,480,670...15,526,100
Ensembl chrNW_004936483:15,484,970...15,525,865 		JBrowse link
G Whamm WASP homolog associated with actin, golgi membranes and microtubules ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936483:17,469,758...17,492,791
Ensembl chrNW_004936483:17,471,162...17,492,152 		JBrowse link
G Zfand6 zinc finger AN1-type containing 6 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:38,063,932...38,127,190
Ensembl chrNW_004936471:38,063,981...38,127,191 		JBrowse link
G Zfyve19 zinc finger FYVE-type containing 19 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:4,203,391...4,207,332 JBrowse link
G Znf106 zinc finger protein 106 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:5,712,655...5,779,827 JBrowse link
G Znf280d zinc finger protein 280D ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:17,911,723...18,006,121
Ensembl chrNW_004936471:17,909,093...18,006,110 		JBrowse link
G Znf592 zinc finger protein 592 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936483:16,812,578...16,849,188
Ensembl chrNW_004936483:16,813,164...16,849,188 		JBrowse link
G Znf609 zinc finger protein 609 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:24,880,343...25,064,895
Ensembl chrNW_004936471:24,899,154...25,063,379 		JBrowse link
G Znf710 zinc finger protein 710 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:17407155 PMID:28492532 NCBI chrNW_004936483:15,830,977...15,842,841
Ensembl chrNW_004936483:15,830,978...15,842,384 		JBrowse link
G Znf770 zinc finger protein 770 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936673:908,535...917,818
Ensembl chrNW_004936673:908,653...916,808 		JBrowse link
G Znf774 zinc finger protein 774 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:17407155 PMID:28492532 NCBI chrNW_004936483:16,615,009...16,623,623
Ensembl chrNW_004936483:16,613,299...16,623,664 		JBrowse link
G Zscan2 zinc finger and SCAN domain containing 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936483:16,648,784...16,676,907
Ensembl chrNW_004936483:16,650,440...16,676,197 		JBrowse link
G Zscan29 zinc finger and SCAN domain containing 29 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:6,532,497...6,541,706
Ensembl chrNW_004936471:6,532,707...6,541,418 		JBrowse link
G Zwilch zwilch kinetochore protein ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:26,642,321...26,674,475
Ensembl chrNW_004936471:26,642,352...26,677,684 		JBrowse link
brain small vessel disease 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col4a1 collagen type IV alpha 1 chain ISO ClinVar Annotator: match by term: Porencephaly 2 ClinVar PMID:25741868 NCBI chrNW_004936472:2,416,043...2,543,561
Ensembl chrNW_004936472:2,416,566...2,542,814 		JBrowse link
G Col4a2 collagen type IV alpha 2 chain susceptibility ISO ClinVar Annotator: match by term: COL4A2-related condition | ClinVar Annotator: match by term: COL4A2-related disorder | ClinVar Annotator: match by term: Porencephaly 2 ClinVar
OMIM		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22209246 PMID:22209247 More... NCBI chrNW_004936472:2,270,836...2,416,324
Ensembl chrNW_004936472:2,270,819...2,416,349 		JBrowse link
Cardiofacioneurodevelopmental Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc32 coiled-coil domain containing 32 ISO ClinVar Annotator: match by term: Cardiofacioneurodevelopmental syndrome OMIM
ClinVar		 PMID:25741868 PMID:32307552 PMID:35451546 NCBI chrNW_004936471:4,016,063...4,028,040
Ensembl chrNW_004936471:4,015,824...4,028,070 		JBrowse link
Christianson syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adgrg4 adhesion G protein-coupled receptor G4 ISO ClinVar Annotator: match by term: Christianson syndrome ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chrNW_004936513:10,837,036...10,934,833
Ensembl chrNW_004936513:10,845,610...10,947,288 		JBrowse link
G Arhgef6 Rac/Cdc42 guanine nucleotide exchange factor 6 ISO ClinVar Annotator: match by term: Christianson syndrome ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chrNW_004936513:10,488,525...10,598,366
Ensembl chrNW_004936513:10,488,532...10,598,493 		JBrowse link
G Brs3 bombesin receptor subtype 3 ISO ClinVar Annotator: match by term: Christianson syndrome ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chrNW_004936513:10,784,181...10,788,679
Ensembl chrNW_004936513:10,784,181...10,788,680 		JBrowse link
G Cd40lg CD40 ligand ISO ClinVar Annotator: match by term: Christianson syndrome ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chrNW_004936513:10,607,617...10,620,403
Ensembl chrNW_004936513:10,607,617...10,620,403 		JBrowse link
G Cdkl5 cyclin dependent kinase like 5 ISO ClinVar Annotator: match by term: Angelman syndrome-like ClinVar PMID:15499549 PMID:16015284 PMID:16611748 PMID:16813600 PMID:17993579 More... NCBI chrNW_004936844:101,815...271,254
Ensembl chrNW_004936844:160,833...271,901 		JBrowse link
G Fhl1 four and a half LIM domains 1 ISO ClinVar Annotator: match by term: Christianson syndrome ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chrNW_004936513:11,025,753...11,064,312
Ensembl chrNW_004936513:11,025,715...11,064,312 		JBrowse link
G Gpr101 G protein-coupled receptor 101 ISO ClinVar Annotator: match by term: Christianson syndrome ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chrNW_004936513:10,282,683...10,284,206
Ensembl chrNW_004936513:10,282,683...10,284,206 		JBrowse link
G Hivep2 HIVEP zinc finger 2 ISO ClinVar Annotator: match by term: Angelman syndrome-like ClinVar PMID:25741868 NCBI chrNW_004936625:3,219,260...3,301,361
Ensembl chrNW_004936625:3,267,947...3,301,369 		JBrowse link
G Htatsf1 HIV-1 Tat specific factor 1 ISO ClinVar Annotator: match by term: Christianson syndrome ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chrNW_004936513:10,762,417...10,779,641
Ensembl chrNW_004936513:10,762,398...10,779,374 		JBrowse link
G Map7d3 MAP7 domain containing 3 ISO ClinVar Annotator: match by term: Christianson syndrome ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chrNW_004936513:10,989,123...11,021,086 JBrowse link
G Rbmx RNA binding motif protein X-linked ISO ClinVar Annotator: match by term: Christianson syndrome ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chrNW_004936513:10,429,862...10,442,509
Ensembl chrNW_004936513:10,429,824...10,437,108 		JBrowse link
G Rs1 retinoschisin 1 ISO ClinVar Annotator: match by term: Angelman syndrome-like ClinVar PMID:15499549 PMID:16813600 PMID:18414213 PMID:19241098 PMID:20479760 More... NCBI chrNW_004936844:284,938...314,524
Ensembl chrNW_004936844:284,141...314,545 		JBrowse link
G Slc9a6 solute carrier family 9 member A6 ISO ClinVar Annotator: match by term: Christianson syndrome | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, CHRISTIANSON TYPE | ClinVar Annotator: match by term: X-linked mental retardation, syndromic, Christianson type OMIM
ClinVar		 PMID:9536098 PMID:15319456 PMID:15358621 PMID:16019685 PMID:16199547 More... NCBI chrNW_004936513:11,158,609...11,215,477
Ensembl chrNW_004936513:11,158,730...11,215,568 		JBrowse link
G Vgll1 vestigial like family member 1 ISO ClinVar Annotator: match by term: Christianson syndrome ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chrNW_004936513:10,704,343...10,742,583
Ensembl chrNW_004936513:10,721,500...10,742,670 		JBrowse link
G Zic3 Zic family member 3 ISO ClinVar Annotator: match by term: Christianson syndrome ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chrNW_004936513:9,780,895...9,792,865
Ensembl chrNW_004936513:9,786,709...9,793,077 		JBrowse link
chromosome 15q26-qter deletion syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adamts17 ADAM metallopeptidase with thrombospondin type 1 motif 17 ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chrNW_004936483:3,388,269...3,735,169
Ensembl chrNW_004936483:3,388,342...3,732,639 		JBrowse link
G Aldh1a3 aldehyde dehydrogenase 1 family member A3 ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chrNW_004936483:2,930,781...2,967,309
Ensembl chrNW_004936483:2,930,789...2,967,346 		JBrowse link
G Asb7 ankyrin repeat and SOCS box containing 7 ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chrNW_004936483:3,165,577...3,205,878
Ensembl chrNW_004936483:3,168,137...3,205,880 		JBrowse link
G Chsy1 chondroitin sulfate synthase 1 ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chrNW_004936483:2,613,820...2,685,986
Ensembl chrNW_004936483:2,613,820...2,686,276 		JBrowse link
G Igf1r insulin like growth factor 1 receptor ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chrNW_004936483:4,563,995...4,860,231
Ensembl chrNW_004936483:4,564,512...4,852,925 		JBrowse link
G LOC101958833 ceramide synthase 3 ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chrNW_004936483:3,276,519...3,365,054
Ensembl chrNW_004936483:3,206,110...3,229,939
Ensembl chrNW_004936483:3,206,110...3,229,939 		JBrowse link
G Lrrc28 leucine rich repeat containing 28 ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chrNW_004936483:4,131,900...4,264,019
Ensembl chrNW_004936483:4,131,749...4,264,012 		JBrowse link
G Lrrk1 leucine rich repeat kinase 1 ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chrNW_004936483:2,771,939...2,922,793
Ensembl chrNW_004936483:2,771,938...2,924,525 		JBrowse link
G Lysmd4 LysM domain containing 4 ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chrNW_004936483:3,819,427...3,824,449
Ensembl chrNW_004936483:3,819,381...3,824,128 		JBrowse link
G Mef2a myocyte enhancer factor 2A ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chrNW_004936483:3,837,891...3,982,334
Ensembl chrNW_004936483:3,834,700...3,919,766 		JBrowse link
G Synm synemin ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chrNW_004936483:4,362,891...4,388,558
Ensembl chrNW_004936483:4,365,508...4,389,180 		JBrowse link
G Ttc23 tetratricopeptide repeat domain 23 ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chrNW_004936483:4,265,769...4,360,149
Ensembl chrNW_004936483:4,265,789...4,359,705 		JBrowse link
chromosome 17q11.2 deletion syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rnf135 ring finger protein 135 ISO ClinVar Annotator: match by term: Chromosome 17q11.2 deletion syndrome, 1.4Mb | ClinVar Annotator: match by term: Macrocephaly, macrosomia, facial dysmorphism syndrome ClinVar PMID:17632510 PMID:21681106 PMID:25741868 PMID:27535533 PMID:28135719 More... NCBI chrNW_004936538:2,741,308...2,757,042
Ensembl chrNW_004936538:2,741,220...2,757,240 		JBrowse link
chromosome 1q21.1 deletion syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acp6 acid phosphatase 6, lysophosphatidic ISO ClinVar Annotator: match by term: Chromosome 1q21.1 deletion syndrome ClinVar NCBI chrNW_004936867:171,808...189,266
Ensembl chrNW_004936867:171,799...187,432 		JBrowse link
G Bcl9 BCL9 transcription coactivator ISO ClinVar Annotator: match by term: Chromosome 1q21.1 deletion syndrome ClinVar NCBI chrNW_004936867:136,798...158,936
Ensembl chrNW_004936867:139,418...158,763 		JBrowse link
G Chd1l chromodomain helicase DNA binding protein 1 like ISO ClinVar Annotator: match by term: Chromosome 1q21.1 deletion syndrome ClinVar NCBI chrNW_004937024:164,309...216,967
Ensembl chrNW_004937024:164,327...216,851 		JBrowse link
G Gja5 gap junction protein alpha 5 ISO ClinVar Annotator: match by term: Chromosome 1q21.1 deletion syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936867:269,477...279,549 JBrowse link
G Gja8 gap junction protein alpha 8 ISO ClinVar Annotator: match by term: 1q21.1 Deletion | ClinVar Annotator: match by term: Chromosome 1q21.1 deletion syndrome ClinVar PMID:25741868 PMID:26694549 PMID:28492532 PMID:28827829 PMID:29464339 NCBI chrNW_004936867:374,638...378,080
Ensembl chrNW_004936867:374,638...375,933 		JBrowse link
G LOC101973983 5'-AMP-activated protein kinase subunit beta-2 ISO ClinVar Annotator: match by term: Chromosome 1q21.1 deletion syndrome ClinVar NCBI chrNW_004936953:77,671...93,383
Ensembl chrNW_004936953:77,688...93,374 		JBrowse link
CK syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nsdhl NAD(P) dependent steroid dehydrogenase-like ISO ClinVar Annotator: match by term: CK syndrome | ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED, WITH THIN BODY HABITUS AND CORTICAL MALFORMATION OMIM
ClinVar		 PMID:18414213 PMID:19377476 PMID:21129721 PMID:25741868 PMID:28492532 NCBI chrNW_004936714:246,574...273,930
Ensembl chrNW_004936714:246,551...273,912 		JBrowse link
cleft palate, cardiac defects, and intellectual disabillity term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Meis2 Meis homeobox 2 ISO ClinVar Annotator: match by term: Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies | ClinVar Annotator: match by term: MEIS2-related disorder OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:24678003 PMID:25712757 PMID:25741868 More... NCBI chrNW_004936471:800,510...1,006,054
Ensembl chrNW_004936471:798,739...1,006,047 		JBrowse link
Cohen syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ankrd46 ankyrin repeat domain 46 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chrNW_004936470:42,755,799...42,782,479 JBrowse link
G Atp6v1c1 ATPase H+ transporting V1 subunit C1 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chrNW_004936470:40,626,523...40,675,435
Ensembl chrNW_004936470:40,623,553...40,675,598 		JBrowse link
G Azin1 antizyme inhibitor 1 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chrNW_004936470:40,801,943...40,832,543
Ensembl chrNW_004936470:40,801,943...40,834,003 		JBrowse link
G Baalc BAALC binder of MAP3K1 and KLF4 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chrNW_004936470:40,506,596...40,590,537
Ensembl chrNW_004936470:40,508,338...40,579,585 		JBrowse link
G Cthrc1 collagen triple helix repeat containing 1 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chrNW_004936470:40,381,215...40,392,105
Ensembl chrNW_004936470:40,377,835...40,392,225 		JBrowse link
G Dcaf13 DDB1 and CUL4 associated factor 13 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chrNW_004936470:40,321,103...40,357,001
Ensembl chrNW_004936470:40,320,073...40,356,993 		JBrowse link
G Dcstamp dendrocyte expressed seven transmembrane protein ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chrNW_004936470:39,664,573...39,671,532
Ensembl chrNW_004936470:39,664,511...39,671,532 		JBrowse link
G Dpys dihydropyrimidinase ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chrNW_004936470:39,564,431...39,637,394
Ensembl chrNW_004936470:39,564,335...39,637,544 		JBrowse link
G Fbxo43 F-box protein 43 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chrNW_004936470:43,091,516...43,100,973
Ensembl chrNW_004936470:43,088,714...43,100,973 		JBrowse link
G Fzd6 frizzled class receptor 6 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chrNW_004936470:40,416,254...40,454,717
Ensembl chrNW_004936470:40,416,014...40,454,062 		JBrowse link
G Grhl2 grainyhead like transcription factor 2 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chrNW_004936470:41,856,683...41,961,666
Ensembl chrNW_004936470:41,859,035...42,002,844 		JBrowse link
G Kcns2 potassium voltage-gated channel modifier subfamily S member 2 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:15141358 PMID:16648375 PMID:20461111 PMID:28492532 NCBI chrNW_004936470:44,455,117...44,460,193
Ensembl chrNW_004936470:44,456,526...44,460,327 		JBrowse link
G Klf10 KLF transcription factor 10 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chrNW_004936470:40,980,487...40,986,880
Ensembl chrNW_004936470:40,980,487...40,986,885 		JBrowse link
G LOC101970194 cytochrome c oxidase subunit 6C ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chrNW_004936470:43,269,744...43,280,886
Ensembl chrNW_004936470:43,269,711...43,283,683 		JBrowse link
G Lrp12 LDL receptor related protein 12 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chrNW_004936470:39,459,395...39,542,125
Ensembl chrNW_004936470:39,459,002...39,544,577 		JBrowse link
G Myo7a myosin VIIA ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:9382091 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chrNW_004936498:5,758,572...5,824,526
Ensembl chrNW_004936498:5,751,779...5,824,378 		JBrowse link
G Ncald neurocalcin delta ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chrNW_004936470:41,573,238...41,852,349
Ensembl chrNW_004936470:41,573,238...41,852,337 		JBrowse link
G Nipal2 NIPA like domain containing 2 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chrNW_004936470:44,588,211...44,645,860
Ensembl chrNW_004936470:44,588,168...44,646,651 		JBrowse link
G Odf1 outer dense fiber of sperm tails 1 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chrNW_004936470:41,069,033...41,078,020
Ensembl chrNW_004936470:41,069,033...41,078,020 		JBrowse link
G Osr2 odd-skipped related transciption factor 2 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:15141358 PMID:16648375 PMID:20461111 PMID:28492532 NCBI chrNW_004936470:44,024,497...44,032,429
Ensembl chrNW_004936470:44,024,439...44,032,429 		JBrowse link
G Pabpc1 poly(A) binding protein cytoplasmic 1 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chrNW_004936470:42,628,890...42,670,311
Ensembl chrNW_004936470:42,628,667...42,643,347 		JBrowse link
G Polr2k RNA polymerase II, I and III subunit K ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chrNW_004936470:43,079,377...43,083,251
Ensembl chrNW_004936470:43,081,284...43,083,236 		JBrowse link
G Pop1 POP1 homolog, ribonuclease P/MRP subunit ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chrNW_004936470:44,676,798...44,710,397
Ensembl chrNW_004936470:44,676,776...44,710,716 		JBrowse link
G Rgs22 regulator of G protein signaling 22 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chrNW_004936470:43,135,410...43,225,788
Ensembl chrNW_004936470:43,122,822...43,219,279 		JBrowse link
G Rims2 regulating synaptic membrane exocytosis 2 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chrNW_004936470:39,725,092...40,270,268
Ensembl chrNW_004936470:39,723,091...40,270,267 		JBrowse link
G Rnf19a ring finger protein 19A, RBR E3 ubiquitin protein ligase ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chrNW_004936470:42,965,790...43,007,487
Ensembl chrNW_004936470:42,965,284...43,007,487 		JBrowse link
G Rrm2b ribonucleotide reductase regulatory TP53 inducible subunit M2B ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chrNW_004936470:41,354,387...41,401,308
Ensembl chrNW_004936470:41,354,287...41,401,317 		JBrowse link
G Slc25a32 solute carrier family 25 member 32 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chrNW_004936470:40,357,066...40,370,514
Ensembl chrNW_004936470:40,357,446...40,370,514 		JBrowse link
G Snx31 sorting nexin 31 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chrNW_004936470:42,684,346...42,743,001
Ensembl chrNW_004936470:42,684,346...42,742,092 		JBrowse link
G Spag1 sperm associated antigen 1 ISO ClinVar Annotator: match by term: Cohen syndrome | ClinVar Annotator: match by term: VPS13B-related condition ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936470:43,015,688...43,078,158
Ensembl chrNW_004936470:43,016,575...43,075,239 		JBrowse link
G Stk3 serine/threonine kinase 3 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:15141358 PMID:16648375 PMID:20461111 PMID:28492532 NCBI chrNW_004936470:44,159,449...44,436,295
Ensembl chrNW_004936470:44,159,419...44,436,330 		JBrowse link
G Ubr5 ubiquitin protein ligase E3 component n-recognin 5 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chrNW_004936470:41,222,782...41,345,755
Ensembl chrNW_004936470:41,252,951...41,344,134 		JBrowse link
G Vps13b vacuolar protein sorting 13 homolog B ISO ClinVar Annotator: match by term: Cohen syndrome | ClinVar Annotator: match by term: Pepper syndrome | ClinVar Annotator: match by term: VPS13B-related condition OMIM
ClinVar		 PMID:9536098 PMID:11169562 PMID:12730828 PMID:15141358 PMID:15154116 More... NCBI chrNW_004936470:43,281,905...43,952,523
Ensembl chrNW_004936470:43,281,469...43,951,805 		JBrowse link
G Ywhaz tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chrNW_004936470:42,444,671...42,470,548
Ensembl chrNW_004936470:42,445,412...42,470,900 		JBrowse link
G Zfpm2 zinc finger protein, FOG family member 2 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chrNW_004936470:38,432,894...38,857,656
Ensembl chrNW_004936470:38,432,897...38,857,662 		JBrowse link
G Znf706 zinc finger protein 706 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chrNW_004936470:42,245,657...42,253,492
Ensembl chrNW_004936470:42,245,765...42,251,590 		JBrowse link
COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mitf melanocyte inducing transcription factor ISO ClinVar Annotator: match by term: Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness ClinVar
OMIM		 PMID:8659547 PMID:16199547 PMID:20127975 PMID:25741868 PMID:27884168 More... NCBI chrNW_004936603:1,682,411...1,858,295
Ensembl chrNW_004936603:1,682,513...1,858,173 		JBrowse link
Diabetes, Deafness, Developmental Delay, and Short Stature Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Manf mesencephalic astrocyte derived neurotrophic factor ISO ClinVar Annotator: match by term: Diabetes, deafness, developmental delay, and short stature syndrome OMIM
ClinVar		 PMID:26077850 PMID:33500254 NCBI chrNW_004936529:2,774,651...2,777,960
Ensembl chrNW_004936529:2,774,543...2,779,579 		JBrowse link
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pcdh12 protocadherin 12 ISO ClinVar Annotator: match by term: Diencephalic-mesencephalic junction dysplasia syndrome 1 OMIM
ClinVar		 PMID:7774041 PMID:22822038 PMID:25741868 PMID:27164683 PMID:28492532 More... NCBI chrNW_004936504:12,226,771...12,244,959
Ensembl chrNW_004936504:12,229,995...12,242,487 		JBrowse link
G Rnf14 ring finger protein 14 ISO ClinVar Annotator: match by term: Diencephalic-mesencephalic junction dysplasia syndrome 1 ClinVar PMID:7774041 PMID:22822038 PMID:25741868 PMID:27164683 PMID:28492532 More... NCBI chrNW_004936504:12,200,395...12,217,454
Ensembl chrNW_004936504:12,200,388...12,217,518 		JBrowse link
Faundes-Banka Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acadvl acyl-CoA dehydrogenase very long chain ISO ClinVar Annotator: match by term: Faundes-Banka syndrome ClinVar PMID:31690835 NCBI chrNW_004936595:514,883...520,223
Ensembl chrNW_004936595:514,534...520,223 		JBrowse link
G Asgr2 asialoglycoprotein receptor 2 ISO ClinVar Annotator: match by term: Faundes-Banka syndrome ClinVar PMID:31690835 NCBI chrNW_004936595:416,013...423,872
Ensembl chrNW_004936595:415,955...424,392 		JBrowse link
G Cldn7 claudin 7 ISO ClinVar Annotator: match by term: Faundes-Banka syndrome ClinVar PMID:31690835 NCBI chrNW_004936595:550,359...552,214
Ensembl chrNW_004936595:550,568...552,632 		JBrowse link
G Ctdnep1 CTD nuclear envelope phosphatase 1 ISO ClinVar Annotator: match by term: Faundes-Banka syndrome ClinVar PMID:31690835 NCBI chrNW_004936595:537,131...543,341
Ensembl chrNW_004936595:536,297...543,071 		JBrowse link
G Dlg4 discs large MAGUK scaffold protein 4 ISO ClinVar Annotator: match by term: Faundes-Banka syndrome ClinVar PMID:31690835 NCBI chrNW_004936595:487,918...513,843
Ensembl chrNW_004936595:485,554...513,815 		JBrowse link
G Dvl2 dishevelled segment polarity protein 2 ISO ClinVar Annotator: match by term: Faundes-Banka syndrome ClinVar PMID:31690835 NCBI chrNW_004936595:520,299...528,361
Ensembl chrNW_004936595:520,548...528,371 		JBrowse link
G Eif5a eukaryotic translation initiation factor 5A ISO ClinVar Annotator: match by term: Faundes-Banka syndrome OMIM
ClinVar		 PMID:25741868 PMID:31690835 PMID:33547280 NCBI chrNW_004936595:604,268...609,075 JBrowse link
G Elp5 elongator acetyltransferase complex subunit 5 ISO ClinVar Annotator: match by term: Faundes-Banka syndrome ClinVar PMID:31690835 NCBI chrNW_004936595:544,091...550,114
Ensembl chrNW_004936595:544,251...550,114 		JBrowse link
G Gabarap GABA type A receptor-associated protein ISO ClinVar Annotator: match by term: Faundes-Banka syndrome ClinVar PMID:31690835 NCBI chrNW_004936595:534,042...536,289
Ensembl chrNW_004936595:533,977...536,271 		JBrowse link
G Gps2 G protein pathway suppressor 2 ISO ClinVar Annotator: match by term: Faundes-Banka syndrome ClinVar PMID:31690835 NCBI chrNW_004936595:608,730...611,871
Ensembl chrNW_004936595:609,232...611,845 		JBrowse link
G LOC101966831 asialoglycoprotein receptor 1 ISO ClinVar Annotator: match by term: Faundes-Banka syndrome ClinVar PMID:31690835 NCBI chrNW_004936595:475,816...479,180
Ensembl chrNW_004936595:476,438...479,030 		JBrowse link
G Neurl4 neuralized E3 ubiquitin protein ligase 4 ISO ClinVar Annotator: match by term: Faundes-Banka syndrome ClinVar PMID:31690835 NCBI chrNW_004936595:612,068...624,494
Ensembl chrNW_004936595:612,070...624,693 		JBrowse link
G Phf23 PHD finger protein 23 ISO ClinVar Annotator: match by term: Faundes-Banka syndrome ClinVar PMID:31690835 NCBI chrNW_004936595:528,832...533,212
Ensembl chrNW_004936595:528,516...533,235 		JBrowse link
G Slc2a4 solute carrier family 2 member 4 ISO ClinVar Annotator: match by term: Faundes-Banka syndrome ClinVar PMID:31690835 NCBI chrNW_004936595:567,267...574,051
Ensembl chrNW_004936595:567,219...574,059 		JBrowse link
G Ybx2 Y-box binding protein 2 ISO ClinVar Annotator: match by term: Faundes-Banka syndrome ClinVar PMID:31690835 NCBI chrNW_004936595:574,264...579,959
Ensembl chrNW_004936595:574,089...579,959 		JBrowse link
Feingold syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mycn MYCN proto-oncogene, bHLH transcription factor ISO ClinVar Annotator: match by term: Brunner Winter syndrome | ClinVar Annotator: match by term: Digital anomalies with short palpebral fissures and atresia of esophagus, or duodenum | ClinVar Annotator: match by term: MICROCEPHALY AND DIGITAL ABNORMALITIES WITH NORMAL INTELLIGENCE | ClinVar Annotator: match by term: Microcephaly-oculo-digito-esophageal-duodenal syndrome ClinVar PMID:15821734 PMID:16906565 PMID:18470948 PMID:18671284 PMID:20301770 More... NCBI chrNW_004936493:14,618,176...14,624,201
Ensembl chrNW_004936493:14,618,060...14,624,315 		JBrowse link
Feingold Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mycn MYCN proto-oncogene, bHLH transcription factor ISO ClinVar Annotator: match by term: MYCN-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:30573562 PMID:37710961 NCBI chrNW_004936493:14,618,176...14,624,201
Ensembl chrNW_004936493:14,618,060...14,624,315 		JBrowse link
FETAL AKINESIA, RESPIRATORY INSUFFICIENCY, MICROCEPHALY, POLYMICROGYRIA, AND DYSMORPHIC FACIES term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp1a2 ATPase Na+/K+ transporting subunit alpha 2 ISO ClinVar Annotator: match by term: Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies OMIM
ClinVar		 PMID:15159495 PMID:15174025 PMID:17142831 PMID:18414213 PMID:18728015 More... NCBI chrNW_004936740:489,357...514,235
Ensembl chrNW_004936740:488,154...514,308 		JBrowse link
Filippi syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ckap2l cytoskeleton associated protein 2 like ISO ClinVar Annotator: match by term: Filippi syndrome OMIM
ClinVar		 PMID:8867657 PMID:15365457 PMID:18553552 PMID:25439729 PMID:25741868 More... NCBI chrNW_004936783:1,175,044...1,194,407
Ensembl chrNW_004936783:1,173,627...1,193,813 		JBrowse link
G Nt5dc4 5'-nucleotidase domain containing 4 ISO ClinVar Annotator: match by term: Filippi syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936783:1,162,977...1,170,876 JBrowse link
Focal Cortical Dysplasia of Taylor term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bmp4 bone morphogenetic protein 4 ISO protein:decreased expression, altered localization:cerebral cortex: RGD PMID:22752548 RGD:9068443 NCBI chrNW_004936697:1,054,237...1,061,468
Ensembl chrNW_004936697:1,056,636...1,061,468 		JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO protein:increased expression:cerebral cortex RGD PMID:22459050 RGD:8547829 NCBI chrNW_004936514:7,038,240...7,045,873
Ensembl chrNW_004936514:7,037,639...7,045,793 		JBrowse link
G Mtor mechanistic target of rapamycin kinase ISO ClinVar Annotator: match by term: Focal cortical dysplasia type 2 OMIM
ClinVar		 PMID:17360675 PMID:20190810 PMID:23636326 PMID:24631838 PMID:25741868 More... NCBI chrNW_004936474:158,376...282,310
Ensembl chrNW_004936474:157,590...282,342 		JBrowse link
G Tsc1 TSC complex subunit 1 ISO ClinVar Annotator: match by term: Cortical dysplasia of Taylor | ClinVar Annotator: match by term: Focal cortical dysplasia of Taylor | ClinVar Annotator: match by term: Focal cortical dysplasia type 2 | ClinVar Annotator: match by term: Focal cortical dysplasia type II OMIM
ClinVar		 PMID:9242607 PMID:9328481 PMID:9536098 PMID:9803264 PMID:9863590 More... NCBI chrNW_004936487:19,331,183...19,386,841
Ensembl chrNW_004936487:19,331,194...19,386,892 		JBrowse link
G Tsc2 TSC complex subunit 2 ISO ClinVar Annotator: match by term: Focal cortical dysplasia of Taylor | ClinVar Annotator: match by term: Focal cortical dysplasia type 2 | ClinVar Annotator: match by term: Focal cortical dysplasia type II OMIM
ClinVar		 PMID:8824881 PMID:9463313 PMID:9536098 PMID:9829910 PMID:10205261 More... NCBI chrNW_004936694:1,958,152...1,993,373
Ensembl chrNW_004936694:1,958,154...1,993,363 		JBrowse link
Focal Cortical Dysplasia of Taylor, Type IIB term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tsc1 TSC complex subunit 1 ISO ClinVar Annotator: match by term: Cortical dysplasia of Taylor with balloon cells ClinVar PMID:9328481 PMID:9863590 PMID:9924605 PMID:10227394 PMID:10533067 More... NCBI chrNW_004936487:19,331,183...19,386,841
Ensembl chrNW_004936487:19,331,194...19,386,892 		JBrowse link
Galloway-Mowat syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gon7 GON7 subunit of KEOPS complex ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome ClinVar PMID:25741868 PMID:31481669 NCBI chrNW_004936733:1,109,456...1,127,176
Ensembl chrNW_004936733:1,124,039...1,127,566 		JBrowse link
G Lage3 L antigen family member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28805828 NCBI chrNW_004936809:1,229,933...1,232,448