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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_004955430:8,014,631...8,197,434
Ensembl chrNW_004955430:8,014,583...8,197,434 		JBrowse link
G Btd biotinidase ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004955430:7,960,036...7,988,754
Ensembl chrNW_004955430:7,960,039...7,988,754 		JBrowse link
G Capn7 calpain 7 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004955430:2,269,274...2,307,801
Ensembl chrNW_004955430:2,269,274...2,308,713 		JBrowse link
G Ccdc174 coiled-coil domain containing 174 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004955429:17,201,563...17,218,726
Ensembl chrNW_004955429:17,201,027...17,218,726 		JBrowse link
G Chchd4 coiled-coil-helix-coiled-coil-helix domain containing 4 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004955429:16,911,392...16,921,353
Ensembl chrNW_004955429:16,912,208...16,921,157 		JBrowse link
G Colq collagen like tail subunit of asymmetric acetylcholinesterase ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004955430:1,956,833...2,019,581
Ensembl chrNW_004955430:1,956,375...2,019,598 		JBrowse link
G CUNH3orf20 chromosome unknown C3orf20 homolog ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004955429:17,222,834...17,271,320
Ensembl chrNW_004955429:17,231,820...17,272,343 		JBrowse link
G Dazl deleted in azoospermia like ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004955430:8,869,419...8,880,782
Ensembl chrNW_004955430:8,869,352...8,880,789 		JBrowse link
G Dph3 diphthamide biosynthesis 3 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004955430:8,544,314...8,550,276
Ensembl chrNW_004955430:8,544,314...8,550,276 		JBrowse link
G Eaf1 ELL associated factor 1 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004955430:1,933,290...1,946,900
Ensembl chrNW_004955430:1,933,290...1,947,932 		JBrowse link
G Efhb EF-hand domain family member B ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004955430:11,932,753...11,986,985
Ensembl chrNW_004955430:11,932,296...11,987,845 		JBrowse link
G Fbln2 fibulin 2 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004955429:12,791,926...12,880,544
Ensembl chrNW_004955429:12,788,468...12,880,543 		JBrowse link
G Fgd5 FYVE, RhoGEF and PH domain containing 5 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004955429:17,297,123...17,367,365
Ensembl chrNW_004955429:17,304,992...17,366,051 		JBrowse link
G Galnt15 polypeptide N-acetylgalactosaminyltransferase 15 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004955430:8,463,773...8,510,583
Ensembl chrNW_004955430:8,464,496...8,510,642 		JBrowse link
G Grip2 glutamate receptor interacting protein 2 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004955429:17,132,520...17,177,547
Ensembl chrNW_004955429:17,134,158...17,160,036 		JBrowse link
G Hacl1 2-hydroxyacyl-CoA lyase 1 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004955430:2,055,774...2,096,260
Ensembl chrNW_004955430:2,053,640...2,096,432 		JBrowse link
G Hdac11 histone deacetylase 11 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004955429:12,890,939...12,907,749
Ensembl chrNW_004955429:12,890,879...12,907,749 		JBrowse link
G Kat2b lysine acetyltransferase 2B ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004955430:12,109,493...12,196,102
Ensembl chrNW_004955430:12,128,069...12,198,117 		JBrowse link
G Kcnh8 potassium voltage-gated channel subfamily H member 8 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004955430:11,298,850...11,654,835
Ensembl chrNW_004955430:11,298,850...11,654,835 		JBrowse link
G Lsm3 LSM3 homolog, U6 small nuclear RNA and mRNA degradation associated ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004955429:16,968,490...16,977,517
Ensembl chrNW_004955429:16,968,490...16,977,517 		JBrowse link
G Mettl6 methyltransferase 6, tRNA N3-cytidine ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004955430:1,910,557...1,933,249
Ensembl chrNW_004955430:1,909,404...1,933,239 		JBrowse link
G Mrps25 mitochondrial ribosomal protein S25 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004955429:17,424,570...17,436,247
Ensembl chrNW_004955429:17,432,443...17,436,247 		JBrowse link
G Nr2c2 nuclear receptor subfamily 2 group C member 2 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004955429:17,386,190...17,430,820
Ensembl chrNW_004955429:17,386,190...17,430,820 		JBrowse link
G Nup210 nucleoporin 210 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004955429:12,907,943...13,041,819
Ensembl chrNW_004955429:12,961,665...13,043,214 		JBrowse link
G Oxnad1 oxidoreductase NAD binding domain containing 1 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004955430:8,550,370...8,586,863
Ensembl chrNW_004955430:8,550,372...8,586,863 		JBrowse link
G Plcl2 phospholipase C like 2 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004955430:9,157,074...9,347,366
Ensembl chrNW_004955430:9,157,074...9,348,563 		JBrowse link
G Pp2d1 protein phosphatase 2C like domain containing 1 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004955430:12,039,391...12,070,440
Ensembl chrNW_004955430:12,040,197...12,069,254 		JBrowse link
G Rab5a RAB5A, member RAS oncogene family ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004955430:11,991,548...12,040,003 JBrowse link
G Rbsn rabenosyn, RAB effector ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004955429:17,444,031...17,468,024
Ensembl chrNW_004955429:17,444,622...17,468,050 		JBrowse link
G Rftn1 raftlin, lipid raft linker 1 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004955430:8,605,057...8,801,187
Ensembl chrNW_004955430:8,603,401...8,779,896 		JBrowse link
G Satb1 SATB homeobox 1 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004955430:10,587,539...10,683,887
Ensembl chrNW_004955430:10,587,539...10,683,887 		JBrowse link
G Setd5 SET domain containing 5 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:21681106 NCBI chrNW_004955561:968,814...1,091,687
Ensembl chrNW_004955561:968,814...1,042,691 		JBrowse link
G Sh3bp5 SH3 domain binding protein 5 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004955430:2,251,544...2,266,166
Ensembl chrNW_004955430:2,196,967...2,264,953 		JBrowse link
G Slc6a6 solute carrier family 6 member 6 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004955429:17,097,753...17,130,079
Ensembl chrNW_004955429:17,098,268...17,130,433 		JBrowse link
G Tbc1d5 TBC1 domain family member 5 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004955430:9,411,865...9,966,710
Ensembl chrNW_004955430:9,410,475...9,940,460 		JBrowse link
G Thumpd3 THUMP domain containing 3 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:21681106 NCBI chrNW_004955561:933,168...956,457
Ensembl chrNW_004955561:933,173...956,457 		JBrowse link
G Tmem43 transmembrane protein 43 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004955429:16,921,469...16,934,978
Ensembl chrNW_004955429:16,921,469...16,934,978 		JBrowse link
G Wnt7a Wnt family member 7A ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004955429:12,647,993...12,693,998
Ensembl chrNW_004955429:12,647,993...12,694,895 		JBrowse link
G Xpc XPC complex subunit, DNA damage recognition and repair factor ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004955429:16,935,901...16,968,285
Ensembl chrNW_004955429:16,935,901...16,955,845 		JBrowse link
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:19732863 PMID:21931168 PMID:25701870 PMID:25712129 PMID:25741868 More... NCBI chrNW_004955412:27,326,946...27,367,455
Ensembl chrNW_004955412:27,326,971...27,367,342 		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_004955553:2,134,715...2,160,777 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_004955536:900,198...1,015,520
Ensembl chrNW_004955536:900,198...1,015,520 		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_004955426:3,647,273...3,846,916
Ensembl chrNW_004955426:3,646,728...3,846,988 		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_004955456:321,222...456,431 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_004955420:8,355,415...8,427,024
Ensembl chrNW_004955420:8,356,353...8,427,024 		JBrowse link
G Pten phosphatase and tensin homolog susceptibility 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_004955425:5,007,811...5,091,829
Ensembl chrNW_004955425:5,014,147...5,091,829 		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_004955527:1,769,280...1,792,496
Ensembl chrNW_004955527:1,768,940...1,792,361 		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_004955414:29,626,314...29,661,453
Ensembl chrNW_004955414:29,624,316...29,661,453 		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_004955559:1,085,033...1,102,501
Ensembl chrNW_004955559:1,084,182...1,103,143 		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: Beaulieu-Boycott-Innes syndrome ClinVar PMID:15241795 PMID:16571647 PMID:16905551 PMID:17701892 PMID:18435798 More... NCBI chrNW_004955409:5,281,603...5,502,547
Ensembl chrNW_004955409:5,281,603...5,504,761 		JBrowse link
G Thoc6 THO complex subunit 6 ISO ClinVar Annotator: match by term: Beaulieu-Boycott-Innes syndrome | ClinVar Annotator: match by term: Microcephaly, mental retardation, and distinctive facies, with cardiac and genitourinary malformations | ClinVar Annotator: match by term: THOC6-related condition OMIM
ClinVar		 PMID:16199547 PMID:18414213 PMID:23621916 PMID:25741868 PMID:26739162 More... NCBI chrNW_004955442:14,314,100...14,317,726
Ensembl chrNW_004955442:14,314,100...14,317,724 		JBrowse link
Bloom syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aagab alpha and gamma adaptin binding protein ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:8,694,829...8,742,816
Ensembl chrNW_004955450:8,694,892...8,741,701 		JBrowse link
G Abhd17c abhydrolase domain containing 17C, depalmitoylase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:11,495,651...11,543,276
Ensembl chrNW_004955416:11,495,651...11,543,405 		JBrowse link
G Abhd2 abhydrolase domain containing 2, acylglycerol lipase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:17407155 PMID:28492532 NCBI chrNW_004955416:15,878,972...15,983,322
Ensembl chrNW_004955416:15,884,624...15,983,322 		JBrowse link
G Acan aggrecan ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:17407155 PMID:28492532 NCBI chrNW_004955416:16,125,536...16,186,046 JBrowse link
G Acsbg1 acyl-CoA synthetase bubblegum family member 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:703,874...744,782
Ensembl chrNW_004955450:701,517...745,126 		JBrowse link
G Actc1 actin alpha cardiac muscle 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:2,139,541...2,144,678
Ensembl chrNW_004955416:2,137,101...2,145,416 		JBrowse link
G Adam10 ADAM metallopeptidase domain 10 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:15,853,372...15,927,966
Ensembl chrNW_004955450:15,853,366...15,928,200 		JBrowse link
G Adamts7 ADAM metallopeptidase with thrombospondin type 1 motif 7 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:525,313...581,006
Ensembl chrNW_004955450:529,999...577,621 		JBrowse link
G Adamtsl3 ADAMTS like 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:12,818,153...13,132,960
Ensembl chrNW_004955416:12,820,138...13,131,826 		JBrowse link
G Adpgk ADP dependent glucokinase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:4,593,295...4,625,091
Ensembl chrNW_004955450:4,593,295...4,627,727 		JBrowse link
G Aen apoptosis enhancing nuclease ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:16,328,655...16,338,069
Ensembl chrNW_004955416:16,331,290...16,338,078 		JBrowse link
G Afg2b AFG2 AAA ATPase homolog B ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955409:8,031,094...8,049,477 JBrowse link
G Agbl1 AGBL carboxypeptidase 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:17,885,757...18,686,124
Ensembl chrNW_004955416:18,130,605...18,686,108 		JBrowse link
G Akap13 A-kinase anchoring protein 13 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:19,006,206...19,327,523
Ensembl chrNW_004955416:19,009,485...19,247,626 		JBrowse link
G Aldh1a2 aldehyde dehydrogenase 1 family member A2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:16,406,578...16,453,048
Ensembl chrNW_004955450:16,406,436...16,453,180 		JBrowse link
G Alpk3 alpha kinase 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:14,279,831...14,322,836
Ensembl chrNW_004955416:14,277,866...14,322,838 		JBrowse link
G Ankdd1a ankyrin repeat and death domain containing 1A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:10,630,303...10,651,918
Ensembl chrNW_004955450:10,630,868...10,648,940 		JBrowse link
G Ankrd34c ankyrin repeat domain 34C ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955533:311,863...320,185 JBrowse link
G Ankrd63 ankyrin repeat domain 63 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:7,212,413...7,216,526
Ensembl chrNW_004955416:7,212,413...7,216,526 		JBrowse link
G Anp32a acidic nuclear phosphoprotein 32 family member A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:7,449,368...7,484,524 JBrowse link
G Anpep alanyl aminopeptidase, membrane ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:17407155 PMID:28492532 NCBI chrNW_004955416:15,415,981...15,442,032
Ensembl chrNW_004955416:15,424,932...15,444,075 		JBrowse link
G Anxa2 annexin A2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:14,545,586...14,574,161
Ensembl chrNW_004955450:14,512,381...14,574,696 		JBrowse link
G Ap3b2 adaptor related protein complex 3 subunit beta 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:13,927,655...13,956,589
Ensembl chrNW_004955416:13,927,545...13,957,207 		JBrowse link
G Ap4e1 adaptor related protein complex 4 subunit epsilon 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955409:3,476,527...3,532,683 JBrowse link
G Aph1b aph-1 homolog B, gamma-secretase subunit ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:12,000,682...12,022,183
Ensembl chrNW_004955450:12,000,424...12,022,071 		JBrowse link
G Aqp9 aquaporin 9 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:16,253,706...16,346,602
Ensembl chrNW_004955450:16,253,571...16,302,657 		JBrowse link
G Aqr aquarius intron-binding spliceosomal factor ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:2,214,990...2,304,924
Ensembl chrNW_004955416:2,215,490...2,304,726 		JBrowse link
G Arid3b AT-rich interaction domain 3B ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:3,272,820...3,318,820
Ensembl chrNW_004955450:3,271,387...3,319,103 		JBrowse link
G Arih1 ariadne RBR E3 ubiquitin protein ligase 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:4,683,118...4,737,793
Ensembl chrNW_004955450:4,683,118...4,737,994 		JBrowse link
G Arnt2 aryl hydrocarbon receptor nuclear translocator 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:11,279,866...11,429,365
Ensembl chrNW_004955416:11,308,846...11,429,365 		JBrowse link
G Arpp19 cAMP regulated phosphoprotein 19 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955409:2,354,988...2,369,846
Ensembl chrNW_004955409:2,354,988...2,369,846 		JBrowse link
G Atosa atos homolog A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955409:2,261,169...2,345,489
Ensembl chrNW_004955409:2,289,589...2,344,832 		JBrowse link
G Atp8b4 ATPase phospholipid transporting 8B4 (putative) ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955409:4,148,110...4,383,309
Ensembl chrNW_004955409:4,183,493...4,381,356 		JBrowse link
G Aven apoptosis and caspase activation inhibitor ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:690,440...712,391 JBrowse link
G B2m beta-2-microglobulin ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:11,205,503...11,211,325
Ensembl chrNW_004955416:11,204,849...11,215,568 		JBrowse link
G Bahd1 bromo adjacent homology domain containing 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:7,376,794...7,388,577
Ensembl chrNW_004955416:7,361,847...7,388,647 		JBrowse link
G Bbs4 Bardet-Biedl syndrome 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:4,624,634...4,668,470
Ensembl chrNW_004955450:4,631,266...4,662,719 		JBrowse link
G Bcl2a1 BCL2 related protein A1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955533:773,912...785,040
Ensembl chrNW_004955533:773,912...785,037 		JBrowse link
G Blm BLM RecQ like helicase ISO ClinVar Annotator: match by term: Bloom syndrome | ClinVar Annotator: match by term: Bloom-Torre-Machacek syndrome OMIM
ClinVar		 PMID:2678854 PMID:7585968 PMID:7799980 PMID:9285778 PMID:9388480 More... NCBI chrNW_004955416:14,814,753...14,899,865
Ensembl chrNW_004955416:14,842,033...14,899,687 		JBrowse link
G Bloc1s6 biogenesis of lysosomal organelles complex 1 subunit 6 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955409:7,902,125...7,913,966
Ensembl chrNW_004955409:7,899,601...7,913,966 		JBrowse link
G Bmf Bcl2 modifying factor ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:7,048,654...7,068,917
Ensembl chrNW_004955416:7,052,290...7,068,910 		JBrowse link
G Bnc1 basonuclin zinc finger protein 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:13,428,760...13,440,837
Ensembl chrNW_004955416:13,428,760...13,440,921 		JBrowse link
G Bnip2 BCL2 interacting protein 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:15,157,411...15,180,069
Ensembl chrNW_004955450:15,157,226...15,180,069 		JBrowse link
G Btbd1 BTB domain containing 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:13,621,343...13,657,276
Ensembl chrNW_004955416:13,621,118...13,657,581 		JBrowse link
G Bub1b BUB1 mitotic checkpoint serine/threonine kinase B ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:7,105,302...7,159,121
Ensembl chrNW_004955416:7,105,261...7,160,012 		JBrowse link
G Ca12 carbonic anhydrase 12 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:11,927,730...11,975,553
Ensembl chrNW_004955450:11,943,340...11,975,928 		JBrowse link
G Calml4 calmodulin like 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:7,886,565...7,894,143
Ensembl chrNW_004955450:7,887,414...7,894,143 		JBrowse link
G Capn3 calpain 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:9,070,479...9,121,099
Ensembl chrNW_004955416:9,070,399...9,117,794 		JBrowse link
G Catsper2 cation channel sperm associated 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955409:3,925,106...3,940,566 JBrowse link
G Ccdc32 coiled-coil domain containing 32 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:7,464,498...7,482,153
Ensembl chrNW_004955416:7,462,770...7,479,242 		JBrowse link
G Ccdc33 coiled-coil domain containing 33 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:3,485,789...3,576,768
Ensembl chrNW_004955450:3,481,232...3,576,771 		JBrowse link
G Ccdc9b coiled-coil domain containing 9B ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:7,258,446...7,268,342
Ensembl chrNW_004955416:7,257,232...7,267,171 		JBrowse link
G Ccnb2 cyclin B2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:15,558,874...15,587,456
Ensembl chrNW_004955450:15,559,022...15,581,760 		JBrowse link
G Ccndbp1 cyclin D1 binding protein 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:9,772,823...9,782,047
Ensembl chrNW_004955416:9,772,823...9,782,047 		JBrowse link
G Ccpg1 cell cycle progression 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955409:530,734...562,577
Ensembl chrNW_004955409:542,902...561,840 		JBrowse link
G Cd276 CD276 molecule ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:3,884,437...3,896,416 JBrowse link
G Cdan1 codanin 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:9,393,170...9,403,374
Ensembl chrNW_004955416:9,393,197...9,403,370 		JBrowse link
G Cdin1 CDAN1 interacting nuclease 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:3,805,968...4,014,328
Ensembl chrNW_004955416:3,805,341...4,015,232 		JBrowse link
G Celf6 CUGBP Elav-like family member 6 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:4,822,125...4,853,572
Ensembl chrNW_004955450:4,822,125...4,855,238 		JBrowse link
G Cemip cell migration inducing hyaluronidase 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:11,562,047...11,699,925
Ensembl chrNW_004955416:11,613,316...11,699,925 		JBrowse link
G Cep152 centrosomal protein 152 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955409:5,121,332...5,210,729
Ensembl chrNW_004955409:5,122,325...5,210,733 		JBrowse link
G Cfap161 cilia and flagella associated protein 161 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:11,833,610...11,844,452 JBrowse link
G Cgnl1 cingulin like 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:16,785,358...16,913,718
Ensembl chrNW_004955450:16,785,080...16,871,515 		JBrowse link
G Chac1 ChaC glutathione specific gamma-glutamylcyclotransferase 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:7,828,917...7,831,368
Ensembl chrNW_004955416:7,828,482...7,832,391 		JBrowse link
G Chp1 calcineurin like EF-hand protein 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:8,090,034...8,131,605
Ensembl chrNW_004955416:8,090,034...8,132,870 		JBrowse link
G Chrm5 cholinergic receptor muscarinic 5 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:526,718...528,353
Ensembl chrNW_004955416:526,755...528,353 		JBrowse link
G Chrna3 cholinergic receptor nicotinic alpha 3 subunit ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:979,630...1,011,316
Ensembl chrNW_004955450:977,075...1,011,372 		JBrowse link
G Chrna5 cholinergic receptor nicotinic alpha 5 subunit ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:945,400...974,129
Ensembl chrNW_004955450:946,898...974,457 		JBrowse link
G Chrnb4 cholinergic receptor nicotinic beta 4 subunit ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:1,013,897...1,030,232
Ensembl chrNW_004955450:1,013,607...1,030,282 		JBrowse link
G Chst14 carbohydrate sulfotransferase 14 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:7,391,281...7,393,137
Ensembl chrNW_004955416:7,391,282...7,392,355 		JBrowse link
G Ciao2a cytosolic iron-sulfur assembly component 2A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:11,306,099...11,327,688
Ensembl chrNW_004955450:11,306,099...11,331,758 		JBrowse link
G Cib1 calcium and integrin binding 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:17407155 PMID:28492532 NCBI chrNW_004955416:15,102,632...15,106,372
Ensembl chrNW_004955416:15,102,632...15,106,372 		JBrowse link
G Cib2 calcium and integrin binding family member 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:660,655...674,726
Ensembl chrNW_004955450:659,383...675,634 		JBrowse link
G Cilp cartilage intermediate layer protein ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:10,231,082...10,244,632
Ensembl chrNW_004955450:10,232,641...10,245,945 		JBrowse link
G Cimap1c ciliary microtubule associated protein 1C ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:2,614,377...2,617,064
Ensembl chrNW_004955450:2,614,261...2,617,324 		JBrowse link
G Clk3 CDC like kinase 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:3,250,169...3,262,977
Ensembl chrNW_004955450:3,250,444...3,262,920 		JBrowse link
G Cln6 CLN6 transmembrane ER protein ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:7,876,572...7,885,305
Ensembl chrNW_004955450:7,876,522...7,886,581 		JBrowse link
G Clpx caseinolytic mitochondrial matrix peptidase chaperone subunit X ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:10,256,124...10,289,832
Ensembl chrNW_004955450:10,256,124...10,289,832 		JBrowse link
G Commd4 COMM domain containing 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:2,891,920...2,895,009
Ensembl chrNW_004955450:2,892,125...2,893,666 		JBrowse link
G Cops2 COP9 signalosome subunit 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955409:4,859,971...4,888,487
Ensembl chrNW_004955409:4,859,972...4,891,575 		JBrowse link
G Coro2b coronin 2B ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:7,522,447...7,573,043
Ensembl chrNW_004955450:7,521,188...7,573,575 		JBrowse link
G Cpeb1 cytoplasmic polyadenylation element binding protein 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:13,963,300...14,038,691
Ensembl chrNW_004955416:13,981,657...14,039,705 		JBrowse link
G Cplx3 complexin 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:3,105,364...3,110,246
Ensembl chrNW_004955450:3,105,203...3,110,374 		JBrowse link
G Crabp1 cellular retinoic acid binding protein 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:810,206...817,011
Ensembl chrNW_004955450:810,151...817,059 		JBrowse link
G Crtc3 CREB regulated transcription coactivator 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:17407155 PMID:28492532 NCBI chrNW_004955416:14,672,291...14,768,879
Ensembl chrNW_004955416:14,672,291...14,765,893 		JBrowse link
G Csk C-terminal Src kinase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:3,127,561...3,144,550
Ensembl chrNW_004955450:3,127,561...3,144,550 		JBrowse link
G Csnk1g1 casein kinase 1 gamma 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:11,088,601...11,239,227
Ensembl chrNW_004955450:11,102,257...11,233,601 		JBrowse link
G Cspg4 chondroitin sulfate proteoglycan 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:2,631,310...2,663,118
Ensembl chrNW_004955450:2,631,327...2,662,269 		JBrowse link
G Ctdspl2 CTD small phosphatase like 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:10,970,487...11,046,179
Ensembl chrNW_004955416:10,970,492...11,046,179 		JBrowse link
G Ctsh cathepsin H ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955533:39,237...54,881
Ensembl chrNW_004955533:39,284...54,837 		JBrowse link
G Ctxn2 cortexin 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955409:5,685,318...5,695,682
Ensembl chrNW_004955409:5,685,318...5,695,682 		JBrowse link
G CUNH15orf39 chromosome unknown C15orf39 homolog ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:2,900,456...2,905,748
Ensembl chrNW_004955450:2,900,027...2,913,501 		JBrowse link
G CUNH15orf40 chromosome unknown C15orf40 homolog ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:13,669,931...13,681,991
Ensembl chrNW_004955416:13,670,036...13,674,912 		JBrowse link
G CUNH15orf48 chromosome unknown C15orf48 homolog ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955409:8,023,847...8,027,043
Ensembl chrNW_004955409:8,024,171...8,026,496 		JBrowse link
G CUNH15orf61 chromosome unknown C15orf61 homolog ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:8,473,239...8,480,571
Ensembl chrNW_004955450:8,473,239...8,480,708 		JBrowse link
G CUNH15orf62 chromosome unknown C15orf62 homolog ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:7,621,794...7,624,837
Ensembl chrNW_004955416:7,621,794...7,624,837 		JBrowse link
G Dapk2 death associated protein kinase 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:11,348,566...11,443,908
Ensembl chrNW_004955450:11,348,566...11,455,582 		JBrowse link
G Dennd4a DENN domain containing 4A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:9,723,234...9,851,303
Ensembl chrNW_004955450:9,723,221...9,850,090 		JBrowse link
G Det1 DET1 partner of COP1 E3 ubiquitin ligase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:16,393,199...16,408,144
Ensembl chrNW_004955416:16,393,156...16,408,613 		JBrowse link
G Dis3l DIS3 like exosome 3'-5' exoribonuclease ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:9,279,323...9,313,402
Ensembl chrNW_004955450:9,279,323...9,314,507 		JBrowse link
G Disp2 dispatched RND transporter family member 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:7,282,048...7,297,896
Ensembl chrNW_004955416:7,282,048...7,299,179 		JBrowse link
G Dll4 delta like canonical Notch ligand 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:7,807,049...7,816,346
Ensembl chrNW_004955416:7,807,049...7,817,420 		JBrowse link
G Dmxl2 Dmx like 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955409:2,934,755...3,089,572
Ensembl chrNW_004955409:2,934,740...3,089,703 		JBrowse link
G Dnaaf4 dynein axonemal assembly factor 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955409:498,450...523,067 JBrowse link
G Dnaja4 DnaJ heat shock protein family (Hsp40) member A4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:757,485...771,033
Ensembl chrNW_004955450:757,485...771,033 		JBrowse link
G Dnajc17 DnaJ heat shock protein family (Hsp40) member C17 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:7,620,553...7,672,344
Ensembl chrNW_004955416:7,616,716...7,672,342 		JBrowse link
G Dph6 diphthamine biosynthesis 6 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:2,701,724...2,860,330
Ensembl chrNW_004955416:2,701,724...2,859,802 		JBrowse link
G Dpp8 dipeptidyl peptidase 8 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:9,976,452...10,036,652
Ensembl chrNW_004955450:9,976,452...10,036,652 		JBrowse link
G Dtwd1 DTW domain containing 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955409:4,550,906...4,568,484
Ensembl chrNW_004955409:4,548,237...4,568,477 		JBrowse link
G Duox1 dual oxidase 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955409:8,228,754...8,256,575
Ensembl chrNW_004955409:8,229,199...8,255,003 		JBrowse link
G Duox2 dual oxidase 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955409:8,270,657...8,288,201
Ensembl chrNW_004955409:8,271,164...8,287,096 		JBrowse link
G Duoxa1 dual oxidase maturation factor 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955409:8,256,707...8,266,891
Ensembl chrNW_004955409:8,256,707...8,266,891 		JBrowse link
G Duoxa2 dual oxidase maturation factor 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955409:8,266,873...8,270,486
Ensembl chrNW_004955409:8,266,873...8,270,486 		JBrowse link
G Dut deoxyuridine triphosphatase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955409:5,574,810...5,584,135
Ensembl chrNW_004955409:5,574,694...5,584,134 		JBrowse link
G Edc3 enhancer of mRNA decapping 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:3,193,150...3,249,933
Ensembl chrNW_004955450:3,193,150...3,249,933 		JBrowse link
G Efl1 elongation factor like GTPase 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:12,658,177...12,789,657
Ensembl chrNW_004955416:12,655,563...12,789,731 		JBrowse link
G Ehd4 EH domain containing 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:8,686,709...8,758,096
Ensembl chrNW_004955416:8,686,709...8,739,400 		JBrowse link
G Eid1 EP300 interacting inhibitor of differentiation 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955409:5,066,042...5,067,747
Ensembl chrNW_004955409:5,067,089...5,067,658 		JBrowse link
G Eif2ak4 eukaryotic translation initiation factor 2 alpha kinase 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:6,897,897...7,005,602
Ensembl chrNW_004955416:6,897,848...7,009,965 		JBrowse link
G Eif3j eukaryotic translation initiation factor 3 subunit J ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:11,066,030...11,085,054
Ensembl chrNW_004955416:11,067,782...11,084,305 		JBrowse link
G Ell3 elongation factor for RNA polymerase II 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:10,223,213...10,226,978
Ensembl chrNW_004955416:10,198,508...10,226,120 		JBrowse link
G Emc4 ER membrane protein complex subunit 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:375,736...380,825
Ensembl chrNW_004955416:375,736...380,846 		JBrowse link
G Emc7 ER membrane protein complex subunit 7 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:459,668...482,562
Ensembl chrNW_004955416:459,668...484,278 		JBrowse link
G Epb42 erythrocyte membrane protein band 4.2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:9,784,211...9,800,453
Ensembl chrNW_004955416:9,784,260...9,798,194 		JBrowse link
G Etfa electron transfer flavoprotein subunit alpha ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:1,392,526...1,451,591
Ensembl chrNW_004955450:1,392,479...1,451,591 		JBrowse link
G Exd1 exonuclease 3'-5' domain containing 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:8,032,189...8,089,903 JBrowse link
G Fah fumarylacetoacetate hydrolase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955533:904,294...921,730
Ensembl chrNW_004955533:904,295...921,730 		JBrowse link
G Fam219b family with sequence similarity 219 member B ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:3,054,761...3,060,064
Ensembl chrNW_004955450:3,053,855...3,060,064 		JBrowse link
G Fam227b family with sequence similarity 227 member B ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955409:4,568,562...4,769,010
Ensembl chrNW_004955409:4,586,362...4,770,684 		JBrowse link
G Fam81a family with sequence similarity 81 member A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:15,282,831...15,324,630
Ensembl chrNW_004955450:15,281,897...15,328,648 		JBrowse link
G Fam98b family with sequence similarity 98 member B ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:5,457,232...5,486,744
Ensembl chrNW_004955416:5,457,274...5,487,042 		JBrowse link
G Fanci FA complementation group I ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:17407155 PMID:28492532 NCBI chrNW_004955416:15,788,812...15,857,933
Ensembl chrNW_004955416:15,788,922...15,853,480 		JBrowse link
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955409:5,281,603...5,502,547
Ensembl chrNW_004955409:5,281,603...5,504,761 		JBrowse link
G Fbxl22 F-box and leucine rich repeat protein 22 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:11,719,678...11,728,093 JBrowse link
G Fbxo22 F-box protein 22 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:1,152,383...1,171,257
Ensembl chrNW_004955450:1,152,383...1,171,250 		JBrowse link
G Fem1b fem-1 homolog B ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:7,834,487...7,847,334
Ensembl chrNW_004955450:7,834,487...7,847,334 		JBrowse link
G Fes FES proto-oncogene, tyrosine kinase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:14,948,121...14,959,035
Ensembl chrNW_004955416:14,948,123...14,960,005 		JBrowse link
G Fgf7 fibroblast growth factor 7 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955409:4,633,542...4,686,768
Ensembl chrNW_004955409:4,632,858...4,686,860 		JBrowse link
G Foxb1 forkhead box B1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:14,867,941...14,902,990 JBrowse link
G Frmd5 FERM domain containing 5 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:10,338,061...10,683,069
Ensembl chrNW_004955416:10,338,061...10,682,810 		JBrowse link
G Fsd2 fibronectin type III and SPRY domain containing 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:13,864,050...13,898,693
Ensembl chrNW_004955416:13,852,756...13,896,841 		JBrowse link
G Fsip1 fibrous sheath interacting protein 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:6,507,177...6,710,526
Ensembl chrNW_004955416:6,509,477...6,717,115 		JBrowse link
G Furin furin, paired basic amino acid cleaving enzyme ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:14,915,031...14,947,634
Ensembl chrNW_004955416:14,936,546...14,949,252 		JBrowse link
G Gabpb1 GA binding protein transcription factor subunit beta 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955409:3,983,857...4,036,433
Ensembl chrNW_004955409:4,004,480...4,039,681 		JBrowse link
G Galk2 galactokinase 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955409:4,751,764...4,852,395
Ensembl chrNW_004955409:4,751,764...4,860,584 		JBrowse link
G Ganc glucosidase alpha, neutral C ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:8,990,852...9,063,840
Ensembl chrNW_004955416:8,990,852...9,063,826 		JBrowse link
G Gatm glycine amidinotransferase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955409:8,068,524...8,084,603
Ensembl chrNW_004955409:8,068,476...8,084,603 		JBrowse link
G Gchfr GTP cyclohydrolase I feedback regulator ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:7,617,333...7,620,455
Ensembl chrNW_004955416:7,617,333...7,620,455 		JBrowse link
G Gcnt3 glucosaminyl (N-acetyl) transferase 3, mucin type ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:15,204,502...15,211,747
Ensembl chrNW_004955450:15,204,915...15,206,234 		JBrowse link
G Gdpgp1 GDP-D-glucose phosphorylase 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:17407155 PMID:28492532 NCBI chrNW_004955416:15,098,922...15,102,499
Ensembl chrNW_004955416:15,098,922...15,102,499 		JBrowse link
G Gjd2 gap junction protein delta 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:2,104,985...2,134,937
Ensembl chrNW_004955416:2,104,985...2,134,937 		JBrowse link
G Glce glucuronic acid epimerase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:7,149,721...7,226,835
Ensembl chrNW_004955450:7,149,721...7,227,524 		JBrowse link
G Gldn gliomedin ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955409:3,128,718...3,179,083
Ensembl chrNW_004955409:3,128,684...3,179,083 		JBrowse link
G Gnb5 G protein subunit beta 5 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955409:2,621,144...2,642,298
Ensembl chrNW_004955409:2,619,718...2,641,308 		JBrowse link
G Golm2 golgi membrane protein 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:10,812,414...10,949,563
Ensembl chrNW_004955416:10,812,722...10,947,505 		JBrowse link
G Gpr176 G protein-coupled receptor 176 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:6,735,790...6,879,078
Ensembl chrNW_004955416:6,735,636...6,878,982 		JBrowse link
G Gramd2a GRAM domain containing 2A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:4,936,357...4,960,643
Ensembl chrNW_004955450:4,954,223...4,960,280 		JBrowse link
G Grem1 gremlin 1, DAN family BMP antagonist ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:1,812,725...1,825,528
Ensembl chrNW_004955416:1,812,676...1,826,271 		JBrowse link
G Gtf2a2 general transcription factor IIA subunit 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:15,181,824...15,195,594 JBrowse link
G Hacd3 3-hydroxyacyl-CoA dehydratase 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:9,923,560...9,947,519
Ensembl chrNW_004955450:9,923,560...9,942,658 		JBrowse link
G Hapln3 hyaluronan and proteoglycan link protein 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:17407155 PMID:28492532 NCBI chrNW_004955416:16,105,937...16,122,114
Ensembl chrNW_004955416:16,105,772...16,122,139 		JBrowse link
G Haus2 HAUS augmin like complex subunit 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:9,237,713...9,252,920
Ensembl chrNW_004955416:9,237,731...9,252,561 		JBrowse link
G Hcn4 hyperpolarization activated cyclic nucleotide gated potassium channel 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:4,139,852...4,181,377
Ensembl chrNW_004955450:4,139,852...4,181,377 		JBrowse link
G Hdc histidine decarboxylase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955409:4,051,574...4,072,641
Ensembl chrNW_004955409:4,051,271...4,072,642 		JBrowse link
G Hddc3 HD domain containing 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:14,993,492...14,995,818
Ensembl chrNW_004955416:14,990,031...14,995,818 		JBrowse link
G Herc1 HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:11,525,245...11,719,992
Ensembl chrNW_004955450:11,525,246...11,719,992 		JBrowse link
G Hexa hexosaminidase subunit alpha ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:4,790,342...4,806,862
Ensembl chrNW_004955450:4,790,268...4,806,734 		JBrowse link
G Hmg20a high mobility group 20A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:2,285,444...2,362,696
Ensembl chrNW_004955450:2,285,625...2,353,978 		JBrowse link
G Homer2 homer scaffold protein 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:13,671,115...13,828,413
Ensembl chrNW_004955416:13,741,161...13,818,060 		JBrowse link
G Hykk hydroxylysine kinase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:900,783...918,873
Ensembl chrNW_004955450:900,731...921,051 		JBrowse link
G Hypk huntingtin interacting protein K ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:10,258,357...10,259,699
Ensembl chrNW_004955416:10,258,612...10,259,639 		JBrowse link
G Ice2 interactor of little elongation complex ELL subunit 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:14,462,730...14,512,708 JBrowse link
G Idh2 isocitrate dehydrogenase (NADP(+)) 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:17407155 PMID:28492532 NCBI chrNW_004955416:15,197,611...15,212,919
Ensembl chrNW_004955416:15,197,366...15,223,363 		JBrowse link
G Idh3a isocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:685,905...703,593
Ensembl chrNW_004955450:685,905...703,586 		JBrowse link
G Igdcc3 immunoglobulin superfamily DCC subclass member 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:10,087,900...10,121,671
Ensembl chrNW_004955450:10,087,902...10,120,045 		JBrowse link
G Igdcc4 immunoglobulin superfamily DCC subclass member 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:10,057,064...10,083,484
Ensembl chrNW_004955450:10,057,066...10,081,186 		JBrowse link
G Il16 interleukin 16 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:11,876,317...11,987,548 JBrowse link
G Imp3 IMP U3 small nucleolar ribonucleoprotein 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:2,690,814...2,692,336 JBrowse link
G Ino80 INO80 complex ATPase subunit ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:7,870,521...8,020,862
Ensembl chrNW_004955416:7,870,258...7,961,812 		JBrowse link
G Insyn1 inhibitory synaptic factor 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:3,857,563...3,867,905
Ensembl chrNW_004955450:3,857,563...3,867,898 		JBrowse link
G Ints14 integrator complex subunit 14 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:9,892,476...9,925,231
Ensembl chrNW_004955450:9,892,296...9,925,231 		JBrowse link
G Iqch IQ motif containing H ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:8,496,190...8,694,810
Ensembl chrNW_004955450:8,495,931...8,694,636 		JBrowse link
G Iqgap1 IQ motif containing GTPase activating protein 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:17407155 PMID:28492532 NCBI chrNW_004955416:14,558,628...14,652,031
Ensembl chrNW_004955416:14,560,292...14,650,036 		JBrowse link
G Ireb2 iron responsive element binding protein 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:852,554...898,908
Ensembl chrNW_004955450:852,554...900,011 		JBrowse link
G Isg20 interferon stimulated exonuclease gene 20 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:16,305,534...16,321,596
Ensembl chrNW_004955416:16,311,499...16,321,102 		JBrowse link
G Isl2 ISL LIM homeobox 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:1,471,586...1,475,702
Ensembl chrNW_004955450:1,470,864...1,475,965 		JBrowse link
G Islr immunoglobulin superfamily containing leucine rich repeat ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:3,604,116...3,607,126 JBrowse link
G Islr2 immunoglobulin superfamily containing leucine rich repeat 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:3,636,575...3,645,521
Ensembl chrNW_004955450:3,636,469...3,645,773 		JBrowse link
G Itga11 integrin subunit alpha 11 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:7,730,936...7,823,342
Ensembl chrNW_004955450:7,730,815...7,824,787 		JBrowse link
G Itpka inositol-trisphosphate 3-kinase A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:8,300,059...8,310,225
Ensembl chrNW_004955416:8,299,318...8,309,865 		JBrowse link
G Ivd isovaleryl-CoA dehydrogenase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:7,327,557...7,341,533
Ensembl chrNW_004955416:7,327,557...7,346,027 		JBrowse link
G Jmjd7 jumonji domain containing 7 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:8,626,931...8,635,337
Ensembl chrNW_004955416:8,626,926...8,633,153 		JBrowse link
G Katnbl1 katanin regulatory subunit B1 like 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:391,335...432,806
Ensembl chrNW_004955416:404,548...432,806 		JBrowse link
G Kbtbd13 kelch repeat and BTB domain containing 13 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:10,344,020...10,347,686
Ensembl chrNW_004955450:10,345,753...10,347,129 		JBrowse link
G Kif23 kinesin family member 23 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:7,060,240...7,083,818
Ensembl chrNW_004955450:7,060,823...7,082,169 		JBrowse link
G Kif7 kinesin family member 7 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:17407155 PMID:28492532 NCBI chrNW_004955416:15,555,959...15,570,925
Ensembl chrNW_004955416:15,555,933...15,570,985 		JBrowse link
G Klhl25 kelch like family member 25 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:18,965,966...18,991,099 JBrowse link
G Knl1 kinetochore scaffold 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:7,498,983...7,561,620
Ensembl chrNW_004955416:7,500,415...7,562,273 		JBrowse link
G Knstrn kinetochore localized astrin (SPAG5) binding protein ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:7,311,483...7,322,272
Ensembl chrNW_004955416:7,311,627...7,321,553 		JBrowse link
G Lactb lactamase beta ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:12,140,049...12,155,600
Ensembl chrNW_004955450:12,140,404...12,155,898 		JBrowse link
G Larp6 La ribonucleoprotein 6, translational regulator ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:6,050,260...6,073,388
Ensembl chrNW_004955450:6,050,057...6,073,379 		JBrowse link
G Lcmt2 leucine carboxyl methyltransferase 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:9,890,208...9,892,326 JBrowse link
G Lctl lactase like ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:9,127,151...9,139,836
Ensembl chrNW_004955450:9,127,174...9,139,211 		JBrowse link
G Ldhal6b lactate dehydrogenase A like 6B ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955439:4,954,208...4,956,660 JBrowse link
G Leo1 LEO1 homolog, Paf1/RNA polymerase II complex component ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955409:2,711,475...2,727,879
Ensembl chrNW_004955409:2,711,564...2,727,755 		JBrowse link
G Linc02915 long intergenic non-protein coding RNA 2915 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:6,178,585...6,178,974 JBrowse link
G Lingo1 leucine rich repeat and Ig domain containing 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:2,435,768...2,493,387
Ensembl chrNW_004955450:2,435,662...2,452,213 		JBrowse link
G Lipc lipase C, hepatic type ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:15,947,869...16,062,449
Ensembl chrNW_004955450:15,948,187...16,048,766 		JBrowse link
G Lman1l lectin, mannose binding 1 like ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:3,111,004...3,123,266
Ensembl chrNW_004955450:3,110,952...3,123,131 		JBrowse link
G LOC102005653 cytochrome c oxidase subunit 5A, mitochondrial ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:3,036,387...3,049,121
Ensembl chrNW_004955450:3,035,815...3,051,507 		JBrowse link
G LOC102010322 cytochrome P450 1A2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:3,165,107...3,171,894
Ensembl chrNW_004955450:3,165,106...3,171,942 		JBrowse link
G LOC102010850 cytochrome P450 1A1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:3,183,958...3,189,488
Ensembl chrNW_004955450:3,183,750...3,189,488 		JBrowse link
G LOC102014960 cholesterol side-chain cleavage enzyme, mitochondrial ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:3,433,310...3,484,462
Ensembl chrNW_004955450:3,474,491...3,484,232 		JBrowse link
G LOC102023780 aromatase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955409:3,198,622...3,313,072
Ensembl chrNW_004955409:3,266,233...3,313,142 		JBrowse link
G LOC102024459 arpin ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:17407155 PMID:28492532 NCBI chrNW_004955416:15,340,070...15,399,017 JBrowse link
G Loxl1 lysyl oxidase like 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:3,715,109...3,734,641
Ensembl chrNW_004955450:3,715,421...3,735,219 		JBrowse link
G Lpcat4 lysophosphatidylcholine acyltransferase 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:251,057...257,379
Ensembl chrNW_004955416:249,903...257,434 		JBrowse link
G Lrrc49 leucine rich repeat containing 49 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:5,903,345...6,030,279
Ensembl chrNW_004955450:5,903,266...6,030,279 		JBrowse link
G Lrrc57 leucine rich repeat containing 57 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:9,230,362...9,237,799
Ensembl chrNW_004955416:9,230,362...9,237,799 		JBrowse link
G Ltk leukocyte receptor tyrosine kinase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:8,310,304...8,319,463 JBrowse link
G Lysmd2 LysM domain containing 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955409:2,862,478...2,874,017 JBrowse link
G Man2a2 mannosidase alpha class 2A member 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:14,961,405...14,990,284 JBrowse link
G Man2c1 mannosidase alpha class 2C member 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:2,872,577...2,882,743
Ensembl chrNW_004955450:2,872,580...2,882,743 		JBrowse link
G Map1a microtubule associated protein 1A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:10,052,964...10,073,318
Ensembl chrNW_004955416:10,053,010...10,071,421 		JBrowse link
G Map2k1 mitogen-activated protein kinase kinase 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:9,181,851...9,205,277
Ensembl chrNW_004955450:9,181,851...9,239,648 		JBrowse link
G Map2k5 mitogen-activated protein kinase kinase 5 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:8,207,577...8,458,258
Ensembl chrNW_004955450:8,203,569...8,458,258 		JBrowse link
G Mapda N6-Methyl-AMP deaminase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:9,892,422...9,913,877
Ensembl chrNW_004955416:9,898,339...9,913,427 		JBrowse link
G Mapk6 mitogen-activated protein kinase 6 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955409:2,664,017...2,676,538
Ensembl chrNW_004955409:2,663,569...2,676,544 		JBrowse link
G Mapkbp1 mitogen-activated protein kinase binding protein 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:8,570,684...8,626,748
Ensembl chrNW_004955416:8,571,044...8,626,748 		JBrowse link
G Megf11 multiple EGF like domains 11 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:9,355,134...9,634,747
Ensembl chrNW_004955450:9,355,060...9,632,119 		JBrowse link
G Meis2 Meis homeobox 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:4,104,114...4,311,791
Ensembl chrNW_004955416:4,101,977...4,311,791 		JBrowse link
G Mesd mesoderm development LRP chaperone ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:11,722,388...11,731,758
Ensembl chrNW_004955416:11,722,388...11,731,758 		JBrowse link
G Mesp2 mesoderm posterior bHLH transcription factor 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:17407155 PMID:28492532 NCBI chrNW_004955416:15,447,959...15,450,209 JBrowse link
G Mex3b mex-3 RNA binding family member B ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:12,595,887...12,599,455
Ensembl chrNW_004955416:12,595,774...12,599,563 		JBrowse link
G Mfap1 microfibril associated protein 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:10,263,729...10,273,403
Ensembl chrNW_004955416:10,263,729...10,274,188 		JBrowse link
G Mfge8 milk fat globule EGF and factor V/VIII domain containing ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:17407155 PMID:28492532 NCBI chrNW_004955416:16,092,263...16,103,097
Ensembl chrNW_004955416:16,091,684...16,103,768 		JBrowse link
G Mga MAX dimerization protein MGA ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:8,416,236...8,566,371
Ensembl chrNW_004955416:8,471,134...8,563,842 		JBrowse link
G Minar1 membrane integral NOTCH2 associated receptor 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955533:408,285...443,217
Ensembl chrNW_004955533:408,225...443,248 		JBrowse link
G Mindy2 MINDY lysine 48 deubiquitinase 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:15,753,892...15,808,205
Ensembl chrNW_004955450:15,753,892...15,808,205 		JBrowse link
G Mns1 meiosis specific nuclear structural 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:17,819,812...17,852,157
Ensembl chrNW_004955450:17,819,929...17,851,762 		JBrowse link
G Morf4l1 mortality factor 4 like 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955533:14,770...28,290
Ensembl chrNW_004955533:14,730...27,643 		JBrowse link
G Mpi mannose phosphate isomerase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:3,061,079...3,071,202
Ensembl chrNW_004955450:3,061,079...3,067,585 		JBrowse link
G Mrpl46 mitochondrial ribosomal protein L46 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:16,445,563...16,453,391
Ensembl chrNW_004955416:16,445,700...16,453,279 		JBrowse link
G Mrps11 mitochondrial ribosomal protein S11 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:16,436,507...16,445,364
Ensembl chrNW_004955416:16,436,769...16,445,991 		JBrowse link
G Mtfmt mitochondrial methionyl-tRNA formyltransferase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:10,399,472...10,415,813
Ensembl chrNW_004955450:10,399,470...10,415,872 		JBrowse link
G Mthfs methenyltetrahydrofolate synthetase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955533:720,255...756,893
Ensembl chrNW_004955533:720,353...756,893 		JBrowse link
G Myef2 myelin expression factor 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955409:5,713,495...5,747,528
Ensembl chrNW_004955409:5,714,124...5,747,140 		JBrowse link
G Myo1e myosin IE ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:15,421,843...15,551,680
Ensembl chrNW_004955450:15,456,580...15,551,584 		JBrowse link
G Myo5a myosin VA ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955409:2,409,503...2,530,539
Ensembl chrNW_004955409:2,428,815...2,530,012 		JBrowse link
G Myo5c myosin VC ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955409:2,543,520...2,612,867
Ensembl chrNW_004955409:2,546,909...2,612,490 		JBrowse link
G Myo9a myosin IXA ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:5,049,797...5,256,934
Ensembl chrNW_004955450:5,049,864...5,252,721 		JBrowse link
G Myzap myocardial zonula adherens protein ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:16,664,673...16,730,769
Ensembl chrNW_004955450:16,664,315...16,730,770 		JBrowse link
G Ndufaf1 NADH:ubiquinone oxidoreductase complex assembly factor 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:8,210,198...8,222,986
Ensembl chrNW_004955416:8,210,410...8,217,138 		JBrowse link
G Nedd4 NEDD4 E3 ubiquitin protein ligase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955409:183,645...281,252
Ensembl chrNW_004955409:183,545...281,318 		JBrowse link
G Neil1 nei like DNA glycosylase 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:2,883,344...2,889,593
Ensembl chrNW_004955450:2,883,560...2,887,736 		JBrowse link
G Neo1 neogenin 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:4,191,168...4,324,997
Ensembl chrNW_004955450:4,191,168...4,375,896 		JBrowse link
G Ngrn neugrin, neurite outgrowth associated ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:17407155 PMID:28492532 NCBI chrNW_004955416:15,074,190...15,080,561
Ensembl chrNW_004955416:15,074,190...15,080,561 		JBrowse link
G Nmb neuromedin B ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:14,467,648...14,470,645
Ensembl chrNW_004955416:14,467,650...14,470,515 		JBrowse link
G Nop10 NOP10 ribonucleoprotein ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:272,127...273,068
Ensembl chrNW_004955416:272,127...273,068 		JBrowse link
G Nptn neuroplastin ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:3,938,403...4,002,694
Ensembl chrNW_004955450:3,938,403...4,004,059 		JBrowse link
G Nr2e3 nuclear receptor subfamily 2 group E member 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:5,281,707...5,286,260
Ensembl chrNW_004955450:5,281,707...5,286,260 		JBrowse link
G Nrg4 neuregulin 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:1,174,131...1,243,040
Ensembl chrNW_004955450:1,174,131...1,243,059 		JBrowse link
G Nsmce2 NSE2 (MMS21) homolog, SMC5-SMC6 complex SUMO ligase ISO OMIM:210900 MouseDO NCBI chrNW_004955461:199,356...451,716
Ensembl chrNW_004955461:201,764...451,776 		JBrowse link
G Ntrk3 neurotrophic receptor tyrosine kinase 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:16,652,931...17,018,188
Ensembl chrNW_004955416:16,652,791...17,018,188 		JBrowse link
G Nusap1 nucleolar and spindle associated protein 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:8,178,493...8,208,336
Ensembl chrNW_004955416:8,178,826...8,207,747 		JBrowse link
G Nutm1 NUT midline carcinoma family member 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:258,304...271,670
Ensembl chrNW_004955416:258,202...270,075 		JBrowse link
G Oaz2 ornithine decarboxylase antizyme 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:10,790,629...10,803,411
Ensembl chrNW_004955450:10,790,829...10,802,276 		JBrowse link
G Oip5 Opa interacting protein 5 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:8,168,143...8,178,459
Ensembl chrNW_004955416:8,168,319...8,179,408 		JBrowse link
G Onecut1 one cut homeobox 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955409:2,181,364...2,214,636
Ensembl chrNW_004955409:2,181,346...2,207,888 		JBrowse link
G Pak6 p21 (RAC1) activated kinase 6 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:7,190,584...7,211,705
Ensembl chrNW_004955416:7,178,524...7,212,053 		JBrowse link
G Paqr5 progestin and adipoQ receptor family member 5 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:7,089,521...7,108,981
Ensembl chrNW_004955450:7,089,521...7,108,489 		JBrowse link
G Parp16 poly(ADP-ribose) polymerase family member 16 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:10,157,731...10,177,939
Ensembl chrNW_004955450:10,157,731...10,178,803 		JBrowse link
G Parp6 poly(ADP-ribose) polymerase family member 6 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:4,863,713...4,900,509
Ensembl chrNW_004955450:4,863,564...4,901,847 		JBrowse link
G Patl2 PAT1 homolog 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:11,169,711...11,180,557
Ensembl chrNW_004955416:11,170,829...11,180,247 		JBrowse link
G Pclaf PCNA clamp associated factor ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:11,072,778...11,082,687
Ensembl chrNW_004955450:11,072,786...11,082,687 		JBrowse link
G Pdcd7 programmed cell death 7 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:10,294,184...10,307,234
Ensembl chrNW_004955450:10,294,276...10,306,367 		JBrowse link
G Pde8a phosphodiesterase 8A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:14,063,117...14,204,297
Ensembl chrNW_004955416:14,063,123...14,125,220 		JBrowse link
G Pdia3 protein disulfide isomerase family A member 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:10,197,957...10,221,104
Ensembl chrNW_004955416:10,198,099...10,220,792 		JBrowse link
G Peak1 pseudopodium enriched atypical kinase 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:2,000,823...2,285,023
Ensembl chrNW_004955450:2,005,957...2,068,764 		JBrowse link
G Pex11a peroxisomal biogenesis factor 11 alpha ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:17407155 PMID:28492532 NCBI chrNW_004955416:15,527,925...15,537,497
Ensembl chrNW_004955416:15,527,941...15,534,424 		JBrowse link
G Pgbd4 piggyBac transposable element derived 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955496:1,861,479...1,869,071 JBrowse link
G Phgr1 proline, histidine and glycine rich 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:7,277,637...7,280,676 JBrowse link
G Pias1 protein inhibitor of activated STAT 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:7,896,741...7,991,045
Ensembl chrNW_004955450:7,896,741...7,991,027 		JBrowse link
G Pierce2 piercer of microtubule wall 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955409:523,414...530,630
Ensembl chrNW_004955409:523,414...526,391 		JBrowse link
G Pif1 PIF1 5'-to-3' DNA helicase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:10,722,570...10,729,852
Ensembl chrNW_004955450:10,722,016...10,727,565 		JBrowse link
G Pigb phosphatidylinositol glycan anchor biosynthesis class B ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955409:562,575...577,082
Ensembl chrNW_004955409:562,688...577,082 		JBrowse link
G Pkm pyruvate kinase M1/2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:4,907,962...4,935,179
Ensembl chrNW_004955450:4,907,788...4,936,199 		JBrowse link
G Pla2g4b phospholipase A2 group IVB ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:8,633,249...8,643,219
Ensembl chrNW_004955416:8,634,184...8,642,833 		JBrowse link
G Pla2g4d phospholipase A2 group IVD ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:8,841,645...8,860,381
Ensembl chrNW_004955416:8,841,954...8,860,353 		JBrowse link
G Pla2g4e phospholipase A2 group IVE ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:8,765,620...8,826,184
Ensembl chrNW_004955416:8,765,561...8,804,616 		JBrowse link
G Pla2g4f phospholipase A2 group IVF ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:8,876,560...8,889,764
Ensembl chrNW_004955416:8,873,356...8,889,940 		JBrowse link
G Plcb2 phospholipase C beta 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:7,221,326...7,240,743
Ensembl chrNW_004955416:7,218,417...7,240,739 		JBrowse link
G Plekho2 pleckstrin homology domain containing O2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:10,692,305...10,714,031 JBrowse link
G Plin1 perilipin 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:17407155 PMID:28492532 NCBI chrNW_004955416:15,538,309...15,549,275
Ensembl chrNW_004955416:15,533,268...15,549,772 		JBrowse link
G Pml PML nuclear body scaffold ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:3,654,854...3,692,057
Ensembl chrNW_004955450:3,656,498...3,692,406 		JBrowse link
G Polg DNA polymerase gamma, catalytic subunit ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:17407155 PMID:28492532 NCBI chrNW_004955416:15,773,005...15,788,736
Ensembl chrNW_004955416:15,773,473...15,788,651 		JBrowse link
G Polr2m RNA polymerase II subunit M ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:16,633,975...16,642,085
Ensembl chrNW_004955450:16,635,458...16,641,974 		JBrowse link
G Ppcdc phosphopantothenoylcysteine decarboxylase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:2,971,874...2,985,034
Ensembl chrNW_004955450:2,971,874...2,985,191 		JBrowse link
G Ppib peptidylprolyl isomerase B ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:11,241,279...11,246,628
Ensembl chrNW_004955450:11,241,279...11,249,056 		JBrowse link
G Ppip5k1 diphosphoinositol pentakisphosphate kinase 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:10,074,239...10,113,268
Ensembl chrNW_004955416:10,074,239...10,109,523 		JBrowse link
G Ppp1r14d protein phosphatase 1 regulatory inhibitor subunit 14D ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:7,681,138...7,693,644
Ensembl chrNW_004955416:7,681,138...7,693,644 		JBrowse link
G Prc1 protein regulator of cytokinesis 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:15,023,620...15,045,958
Ensembl chrNW_004955416:15,023,620...15,045,958 		JBrowse link
G Prtg protogenin ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955409:309,885...405,667
Ensembl chrNW_004955409:309,885...405,667 		JBrowse link
G Psma4 proteasome 20S subunit alpha 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:925,070...932,237
Ensembl chrNW_004955450:925,542...936,653 		JBrowse link
G Pstpip1 proline-serine-threonine phosphatase interacting protein 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:1,876,553...1,908,269
Ensembl chrNW_004955450:1,876,409...1,908,185 		JBrowse link
G Ptpn9 protein tyrosine phosphatase non-receptor type 9 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:2,725,755...2,796,390
Ensembl chrNW_004955450:2,725,755...2,796,390 		JBrowse link
G Pygo1 pygopus family PHD finger 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955409:446,548...459,139 JBrowse link
G Rab11a RAB11A, member RAS oncogene family ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:9,638,761...9,656,291
Ensembl chrNW_004955450:9,638,761...9,656,603 		JBrowse link
G Rab27a RAB27A, member RAS oncogene family ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955409:588,725...621,874
Ensembl chrNW_004955409:588,254...621,874 		JBrowse link
G Rab8b RAB8B, member RAS oncogene family ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:12,026,784...12,095,332
Ensembl chrNW_004955450:12,026,784...12,095,422 		JBrowse link
G Rad51 RAD51 recombinase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:7,566,715...7,590,628
Ensembl chrNW_004955416:7,566,686...7,590,628 		JBrowse link
G Ramac RNA guanine-7 methyltransferase activating subunit ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:13,686,997...13,691,792 JBrowse link
G Rasgrf1 Ras protein specific guanine nucleotide releasing factor 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955533:69,736...167,626
Ensembl chrNW_004955533:70,897...167,460 		JBrowse link
G Rasgrp1 RAS guanyl releasing protein 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:5,494,030...5,561,608
Ensembl chrNW_004955416:5,494,030...5,561,614 		JBrowse link
G Rasl12 RAS like family 12 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:10,352,574...10,363,906
Ensembl chrNW_004955450:10,352,574...10,363,906 		JBrowse link
G Rbpms2 RNA binding protein, mRNA processing factor 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:10,746,708...10,770,540
Ensembl chrNW_004955450:10,763,540...10,770,610 		JBrowse link
G Rccd1 RCC1 domain containing 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:15,013,595...15,020,038
Ensembl chrNW_004955416:15,014,340...15,019,173 		JBrowse link
G Rcn2 reticulocalbin 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:1,838,836...1,854,045
Ensembl chrNW_004955450:1,838,734...1,857,254 		JBrowse link
G Rec114 REC114 meiotic recombination protein ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:4,002,734...4,076,292
Ensembl chrNW_004955450:4,002,753...4,076,309 		JBrowse link
G Rfx7 regulatory factor X7 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955409:59,535...121,157
Ensembl chrNW_004955409:59,536...118,315 		JBrowse link
G Rhcg Rh family C glycoprotein ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:17407155 PMID:28492532 NCBI chrNW_004955416:15,639,425...15,657,708
Ensembl chrNW_004955416:15,639,551...15,654,293 		JBrowse link
G Rhov ras homolog family member V ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:7,741,762...7,743,816
Ensembl chrNW_004955416:7,738,526...7,744,440 		JBrowse link
G Rlbp1 retinaldehyde binding protein 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:17407155 PMID:28492532 NCBI chrNW_004955416:15,862,510...15,873,261
Ensembl chrNW_004955416:15,862,426...15,873,327 		JBrowse link
G Rmdn3 regulator of microtubule dynamics 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:7,591,049...7,610,164
Ensembl chrNW_004955416:7,591,049...7,610,147 		JBrowse link
G Rnf111 ring finger protein 111 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:15,590,053...15,651,344
Ensembl chrNW_004955450:15,587,270...15,624,576 		JBrowse link
G Rora RAR related orphan receptor A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:14,262,199...14,434,611
Ensembl chrNW_004955450:14,262,190...14,425,233 		JBrowse link
G Rpap1 RNA polymerase II associated protein 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:8,322,239...8,348,331
Ensembl chrNW_004955416:8,317,814...8,349,007 		JBrowse link
G Rpl4 ribosomal protein L4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:9,170,372...9,175,224
Ensembl chrNW_004955450:9,169,648...9,176,604 		JBrowse link
G Rplp1 ribosomal protein lateral stalk subunit P1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:7,053,378...7,055,858
Ensembl chrNW_004955450:7,053,378...7,055,858 		JBrowse link
G Rpp25 ribonuclease P and MRP subunit p25 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:3,026,257...3,027,683
Ensembl chrNW_004955450:3,026,502...3,027,065 		JBrowse link
G Rps17 ribosomal protein S17 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:14,039,596...14,042,908
Ensembl chrNW_004955416:14,039,596...14,042,908 		JBrowse link
G Rps27l ribosomal protein S27 like ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:12,122,948...12,126,167
Ensembl chrNW_004955450:12,122,921...12,128,101 		JBrowse link
G Rpusd2 RNA pseudouridine synthase domain containing 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:7,482,226...7,485,654
Ensembl chrNW_004955416:7,482,269...7,487,840 		JBrowse link
G Rsl24d1 ribosomal L24 domain containing 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955409:622,561...632,776
Ensembl chrNW_004955409:622,561...632,776 		JBrowse link
G Rtf1 RTF1 homolog, Paf1/RNA polymerase II complex component ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:8,237,439...8,293,802
Ensembl chrNW_004955416:8,237,439...8,293,802 		JBrowse link
G Ryr3 ryanodine receptor 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:712,506...1,260,111
Ensembl chrNW_004955416:713,373...1,259,885 		JBrowse link
G Saxo2 stabilizer of axonemal microtubules 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:12,789,683...12,811,159
Ensembl chrNW_004955416:12,789,776...12,810,019 		JBrowse link
G Scamp2 secretory carrier membrane protein 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:3,070,944...3,095,168
Ensembl chrNW_004955450:3,070,683...3,095,168 		JBrowse link
G Scamp5 secretory carrier membrane protein 5 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:2,986,522...3,009,655
Ensembl chrNW_004955450:2,986,468...3,009,774 		JBrowse link
G Scaper S-phase cyclin A associated protein in the ER ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:1,479,983...1,821,681
Ensembl chrNW_004955450:1,480,287...1,812,082 		JBrowse link
G Scg3 secretogranin III ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955409:2,876,355...2,907,363
Ensembl chrNW_004955409:2,875,017...2,907,363 		JBrowse link
G Scg5 secretogranin V ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:1,867,848...1,914,505
Ensembl chrNW_004955416:1,866,997...1,914,640 		JBrowse link
G Sec11a SEC11 homolog A, signal peptidase complex subunit ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:14,421,985...14,459,233
Ensembl chrNW_004955416:14,421,988...14,459,233 		JBrowse link
G Secisbp2l SECIS binding protein 2 like ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955409:4,926,330...4,974,889
Ensembl chrNW_004955409:4,926,942...4,975,099 		JBrowse link
G Sema4b semaphorin 4B ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:17407155 PMID:28492532 NCBI chrNW_004955416:15,107,258...15,143,338
Ensembl chrNW_004955416:15,108,175...15,130,746 		JBrowse link
G Sema6d semaphorin 6D ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955409:6,086,178...6,143,702
Ensembl chrNW_004955409:6,086,113...6,143,713 		JBrowse link
G Sema7a semaphorin 7A (JohnMiltonHagen blood group) ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:3,401,732...3,424,547
Ensembl chrNW_004955450:3,401,777...3,423,363 		JBrowse link
G Senp8 SUMO peptidase family member, NEDD8 specific ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:4,978,767...5,001,678
Ensembl chrNW_004955450:4,978,767...5,001,678 		JBrowse link
G Serf2 small EDRK-rich factor 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:10,251,533...10,252,429 JBrowse link
G Serinc4 serine incorporator 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:10,255,269...10,257,996 JBrowse link
G Sh2d7 SH2 domain containing 7 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:650,339...660,567
Ensembl chrNW_004955450:650,339...660,567 		JBrowse link
G Sh3gl3 SH3 domain containing GRB2 like 3, endophilin A3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:13,151,288...13,297,878
Ensembl chrNW_004955416:13,150,021...13,297,878 		JBrowse link
G Shc4 SHC adaptor protein 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955409:5,000,209...5,111,352
Ensembl chrNW_004955409:5,046,900...5,115,621 		JBrowse link
G Shf Src homology 2 domain containing F ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955409:8,219,295...8,227,877
Ensembl chrNW_004955409:8,201,663...8,227,921 		JBrowse link
G Sin3a SIN3 transcription regulator family member A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:2,804,551...2,870,450
Ensembl chrNW_004955450:2,808,130...2,870,450 		JBrowse link
G Skic8 SKI8 subunit of superkiller complex ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:771,646...788,895
Ensembl chrNW_004955450:770,750...789,485 		JBrowse link
G Skor1 SKI family transcriptional corepressor 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:8,184,843...8,195,626
Ensembl chrNW_004955450:8,185,523...8,193,777 		JBrowse link
G Slc12a1 solute carrier family 12 member 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955409:5,597,033...5,680,009
Ensembl chrNW_004955409:5,597,033...5,680,009 		JBrowse link
G Slc12a6 solute carrier family 12 member 6 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:277,215...375,812
Ensembl chrNW_004955416:276,987...375,812 		JBrowse link
G Slc24a1 solute carrier family 24 member 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:9,850,170...9,881,172
Ensembl chrNW_004955450:9,856,718...9,881,172 		JBrowse link
G Slc24a5 solute carrier family 24 member 5 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955409:5,747,624...5,768,122
Ensembl chrNW_004955409:5,747,624...5,768,122 		JBrowse link
G Slc27a2 solute carrier family 27 member 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955409:4,077,685...4,112,828
Ensembl chrNW_004955409:4,077,149...4,112,828 		JBrowse link
G Slc28a1 solute carrier family 28 member 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:14,226,411...14,267,962
Ensembl chrNW_004955416:14,226,278...14,268,350 		JBrowse link
G Slc28a2 solute carrier family 28 member 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955409:8,145,723...8,175,256
Ensembl chrNW_004955409:8,144,304...8,175,360 		JBrowse link
G Slc30a4 solute carrier family 30 member 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955409:7,963,454...7,991,600
Ensembl chrNW_004955409:7,963,454...7,995,027 		JBrowse link
G Slc51b SLC51 subunit beta ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:10,365,554...10,374,209
Ensembl chrNW_004955450:10,365,554...10,374,209 		JBrowse link
G Sltm SAFB like transcription modulator ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:15,691,472...15,748,123
Ensembl chrNW_004955450:15,691,463...15,736,709 		JBrowse link
G Smad3 SMAD family member 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:8,747,651...8,842,003
Ensembl chrNW_004955450:8,747,651...8,842,136 		JBrowse link
G Smad6 SMAD family member 6 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:9,005,332...9,070,790 JBrowse link
G Snap23 synaptosome associated protein 23 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:9,191,123...9,225,103
Ensembl chrNW_004955416:9,190,623...9,225,103 		JBrowse link
G Snapc5 small nuclear RNA activating complex polypeptide 5 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:9,176,462...9,197,592
Ensembl chrNW_004955450:9,176,462...9,197,592 		JBrowse link
G Snupn snurportin 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:2,701,496...2,720,971
Ensembl chrNW_004955450:2,691,617...2,722,150 		JBrowse link
G Snx1 sorting nexin 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:11,266,712...11,306,014
Ensembl chrNW_004955450:11,266,712...11,305,930 		JBrowse link
G Snx22 sorting nexin 22 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:11,246,817...11,248,870
Ensembl chrNW_004955450:11,246,817...11,248,874 		JBrowse link
G Snx33 sorting nexin 33 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:2,669,993...2,682,503
Ensembl chrNW_004955450:2,669,993...2,682,503 		JBrowse link
G Sord sorbitol dehydrogenase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955409:8,305,819...8,333,733
Ensembl chrNW_004955409:8,303,602...8,333,869 		JBrowse link
G Spesp1 sperm equatorial segment protein 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:7,355,144...7,370,413
Ensembl chrNW_004955450:7,355,082...7,370,735 		JBrowse link
G Spg11 SPG11 vesicle trafficking associated, spatacsin ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:11,084,448...11,168,478
Ensembl chrNW_004955416:11,086,176...11,168,332 		JBrowse link
G Spg21 SPG21 abhydrolase domain containing, maspardin ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:10,424,394...10,455,680
Ensembl chrNW_004955450:10,424,394...10,457,804 		JBrowse link
G Spint1 serine peptidase inhibitor, Kunitz type 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:7,715,536...7,728,759
Ensembl chrNW_004955416:7,715,536...7,729,158 		JBrowse link
G Sppl2a signal peptide peptidase like 2A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955409:3,642,113...3,670,779
Ensembl chrNW_004955409:3,645,555...3,670,551 		JBrowse link
G Spred1 sprouty related EVH1 domain containing 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:5,288,779...5,376,861
Ensembl chrNW_004955416:5,288,262...5,377,036 		JBrowse link
G Sptbn5 spectrin beta, non-erythrocytic 5 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:8,643,177...8,684,469 JBrowse link
G Sqor sulfide quinone oxidoreductase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955409:7,831,698...7,857,249
Ensembl chrNW_004955409:7,831,636...7,877,562 		JBrowse link
G Srp14 signal recognition particle 14 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:7,006,240...7,009,569
Ensembl chrNW_004955416:7,006,240...7,009,965 		JBrowse link
G Stard5 StAR related lipid transfer domain containing 5 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:11,989,572...12,000,226
Ensembl chrNW_004955416:11,989,572...12,000,226 		JBrowse link
G Stard9 StAR related lipid transfer domain containing 9 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:9,276,026...9,393,842 JBrowse link
G Stoml1 stomatin like 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:3,694,197...3,701,812
Ensembl chrNW_004955450:3,693,864...3,701,291 		JBrowse link
G Stra6 signaling receptor and transporter of retinol STRA6 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:3,579,081...3,602,538
Ensembl chrNW_004955450:3,580,662...3,602,600 		JBrowse link
G Strc stereocilin ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:10,139,420...10,141,906 JBrowse link
G Tbc1d21 TBC1 domain family member 21 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:3,753,758...3,762,727
Ensembl chrNW_004955450:3,753,758...3,763,326 		JBrowse link
G Tbc1d2b TBC1 domain family member 2B ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:579,651...642,237
Ensembl chrNW_004955450:582,223...641,876 		JBrowse link
G Tcf12 transcription factor 12 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:16,979,990...17,375,264
Ensembl chrNW_004955450:16,979,414...17,376,055 		JBrowse link
G Terb2 telomere repeat binding bouquet formation protein 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955409:8,352,685...8,371,576
Ensembl chrNW_004955409:8,352,685...8,371,529 		JBrowse link
G Tex9 testis expressed 9 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:17,885,148...17,942,136
Ensembl chrNW_004955450:17,884,699...17,942,761 		JBrowse link
G Tgm5 transglutaminase 5 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:9,808,903...9,842,784
Ensembl chrNW_004955416:9,805,033...9,842,798 		JBrowse link
G Tgm7 transglutaminase 7 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:9,847,645...9,870,627
Ensembl chrNW_004955416:9,848,874...9,862,166 		JBrowse link
G Thbs1 thrombospondin 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:6,490,034...6,506,419
Ensembl chrNW_004955416:6,489,451...6,506,419 		JBrowse link
G Thsd4 thrombospondin type 1 domain containing 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:5,296,670...5,827,252
Ensembl chrNW_004955450:5,301,765...5,479,638 		JBrowse link
G Ticrr TOPBP1 interacting checkpoint and replication regulator ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:17407155 PMID:28492532 NCBI chrNW_004955416:15,572,789...15,615,556
Ensembl chrNW_004955416:15,572,331...15,615,603 		JBrowse link
G Tipin TIMELESS interacting protein ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:9,259,838...9,279,479
Ensembl chrNW_004955450:9,262,717...9,279,401 		JBrowse link
G Tle3 TLE family member 3, transcriptional corepressor ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:6,604,915...6,645,305
Ensembl chrNW_004955450:6,603,879...6,645,602 		JBrowse link
G Tln2 talin 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:12,391,049...12,740,232
Ensembl chrNW_004955450:12,394,377...12,728,925 		JBrowse link
G Tlnrd1 talin rod domain containing 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:11,739,879...11,742,381
Ensembl chrNW_004955416:11,740,758...11,741,825 		JBrowse link
G Tm6sf1 transmembrane 6 superfamily member 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:13,561,872...13,584,238
Ensembl chrNW_004955416:13,561,880...13,584,454 		JBrowse link
G Tmc3 transmembrane channel like 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:12,005,190...12,040,095
Ensembl chrNW_004955416:12,004,943...12,032,870 		JBrowse link
G Tmco5a transmembrane and coiled-coil domains 5A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:5,030,720...5,045,420
Ensembl chrNW_004955416:5,030,657...5,045,691 		JBrowse link
G Tmed3 transmembrane p24 trafficking protein 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955533:327,044...335,030 JBrowse link
G Tmem266 transmembrane protein 266 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:1,282,535...1,384,088
Ensembl chrNW_004955450:1,332,928...1,384,110 		JBrowse link
G Tmem62 transmembrane protein 62 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:9,731,871...9,772,738
Ensembl chrNW_004955416:9,737,616...9,772,738 		JBrowse link
G Tmem87a transmembrane protein 87A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:8,938,758...8,990,800
Ensembl chrNW_004955416:8,937,110...8,990,800 		JBrowse link
G Tmod2 tropomodulin 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955409:2,801,173...2,842,717
Ensembl chrNW_004955409:2,808,543...2,842,844 		JBrowse link
G Tnfaip8l3 TNF alpha induced protein 8 like 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955409:3,427,332...3,451,809 JBrowse link
G Tp53bp1 tumor protein p53 binding protein 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:9,962,736...10,035,433
Ensembl chrNW_004955416:9,962,897...10,035,278 		JBrowse link
G Tpm1 tropomyosin 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:12,197,241...12,223,372
Ensembl chrNW_004955450:12,194,755...12,224,011 		JBrowse link
G Trim69 tripartite motif containing 69 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955409:8,376,449...8,394,651
Ensembl chrNW_004955409:8,376,370...8,394,540 		JBrowse link
G Trip4 thyroid hormone receptor interactor 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:11,005,842...11,088,192
Ensembl chrNW_004955450:11,005,849...11,088,192 		JBrowse link
G Trpm7 transient receptor potential cation channel subfamily M member 7 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955409:3,690,722...3,787,139
Ensembl chrNW_004955409:3,691,039...3,785,908 		JBrowse link
G Tspan3 tetraspanin 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:1,916,067...1,937,364
Ensembl chrNW_004955450:1,916,067...1,937,845 		JBrowse link
G Ttbk2 tau tubulin kinase 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:9,412,297...9,518,561
Ensembl chrNW_004955416:9,412,297...9,559,655 		JBrowse link
G Tubgcp4 tubulin gamma complex component 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:9,933,695...9,962,635
Ensembl chrNW_004955416:9,933,695...9,962,635 		JBrowse link
G Tyro3 TYRO3 protein tyrosine kinase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:8,361,722...8,377,629
Ensembl chrNW_004955416:8,359,207...8,377,692 		JBrowse link
G Uaca uveal autoantigen with coiled-coil domains and ankyrin repeats ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:6,122,271...6,195,345
Ensembl chrNW_004955450:6,122,439...6,197,177 		JBrowse link
G Ubap1l ubiquitin associated protein 1 like ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:10,312,032...10,332,917
Ensembl chrNW_004955450:10,319,407...10,332,646 		JBrowse link
G Ube2q2 ubiquitin conjugating enzyme E2 Q2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:1,102,404...1,151,511
Ensembl chrNW_004955450:1,102,404...1,152,272 		JBrowse link
G Ubl7 ubiquitin like 7 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:3,379,201...3,391,938
Ensembl chrNW_004955450:3,378,600...3,392,601 		JBrowse link
G Ubr1 ubiquitin protein ligase E3 component n-recognin 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:9,571,628...9,731,551
Ensembl chrNW_004955416:9,572,171...9,731,453 		JBrowse link
G Ulk3 unc-51 like kinase 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:3,095,604...3,101,774
Ensembl chrNW_004955450:3,095,607...3,101,832 		JBrowse link
G Unc13c unc-13 homolog C ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955409:889,912...1,325,136
Ensembl chrNW_004955409:891,347...1,325,164 		JBrowse link
G Unc45a unc-45 myosin chaperone A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:14,999,692...15,012,581
Ensembl chrNW_004955416:14,999,375...15,012,581 		JBrowse link
G Ung uracil DNA glycosylase ISO CTD Direct Evidence: marker/mechanism CTD PMID:2106500 NCBI chrNW_004955455:10,266,989...10,282,196
Ensembl chrNW_004955455:10,266,989...10,282,196 		JBrowse link
G Usp3 ubiquitin specific peptidase 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:11,729,433...11,802,462
Ensembl chrNW_004955450:11,727,104...11,802,462 		JBrowse link
G Usp50 ubiquitin specific peptidase 50 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955409:3,788,723...3,838,077
Ensembl chrNW_004955409:3,788,903...3,837,983 		JBrowse link
G Usp8 ubiquitin specific peptidase 8 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955409:3,839,308...3,903,595
Ensembl chrNW_004955409:3,840,007...3,891,284 		JBrowse link
G Vps13c vacuolar protein sorting 13 homolog C ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:13,016,933...13,178,797
Ensembl chrNW_004955450:13,016,950...13,174,990 		JBrowse link
G Vps18 VPS18 core subunit of CORVET and HOPS complexes ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:7,772,653...7,780,408
Ensembl chrNW_004955416:7,772,653...7,782,542 		JBrowse link
G Vps39 VPS39 subunit of HOPS complex ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:8,893,249...8,936,351
Ensembl chrNW_004955416:8,893,249...8,936,351 		JBrowse link
G Wdr72 WD repeat domain 72 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955409:1,451,506...1,631,976
Ensembl chrNW_004955409:1,467,732...1,674,042 		JBrowse link
G Wdr73 WD repeat domain 73 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:14,471,479...14,485,416
Ensembl chrNW_004955416:14,471,421...14,485,201 		JBrowse link
G Wdr76 WD repeat domain 76 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:10,280,112...10,337,963
Ensembl chrNW_004955416:10,279,835...10,335,521 		JBrowse link
G Wdr93 WD repeat domain 93 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:17407155 PMID:28492532 NCBI chrNW_004955416:15,472,866...15,527,853
Ensembl chrNW_004955416:15,472,742...15,517,144 		JBrowse link
G Whamm WASP homolog associated with actin, golgi membranes and microtubules ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:13,825,925...13,849,883
Ensembl chrNW_004955416:13,826,372...13,849,245 		JBrowse link
G Zfand6 zinc finger AN1-type containing 6 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955533:823,883...895,713
Ensembl chrNW_004955533:877,985...894,934 		JBrowse link
G Zfyve19 zinc finger FYVE-type containing 19 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:7,672,499...7,679,851
Ensembl chrNW_004955416:7,672,592...7,679,632 		JBrowse link
G Znf106 zinc finger protein 106 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:9,118,812...9,183,583 JBrowse link
G Znf280d zinc finger protein 280D ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:17,596,940...17,681,746
Ensembl chrNW_004955450:17,604,832...17,679,801 		JBrowse link
G Znf592 zinc finger protein 592 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:14,328,250...14,365,346
Ensembl chrNW_004955416:14,326,603...14,365,400 		JBrowse link
G Znf609 zinc finger protein 609 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:10,804,761...11,002,569
Ensembl chrNW_004955450:10,808,638...10,974,590 		JBrowse link
G Znf710 zinc finger protein 710 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:17407155 PMID:28492532 NCBI chrNW_004955416:15,215,542...15,278,742 JBrowse link
G Znf770 zinc finger protein 770 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:2,310,024...2,318,482
Ensembl chrNW_004955416:2,310,033...2,318,300 		JBrowse link
G Zscan2 zinc finger and SCAN domain containing 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:14,498,737...14,514,178
Ensembl chrNW_004955416:14,498,183...14,514,178 		JBrowse link
G Zscan29 zinc finger and SCAN domain containing 29 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955416:9,921,036...9,933,622
Ensembl chrNW_004955416:9,921,036...9,933,620 		JBrowse link
G Zwilch zwilch kinetochore protein ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004955450:9,139,214...9,170,136
Ensembl chrNW_004955450:9,139,169...9,169,921 		JBrowse link
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 NCBI chrNW_004955404:2,196,193...2,327,324
Ensembl chrNW_004955404:2,260,029...2,326,074 		JBrowse link
G Col4a2 collagen type IV alpha 2 chain 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_004955404:2,092,184...2,178,079
Ensembl chrNW_004955404:2,092,184...2,178,079 		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_004955416:7,464,498...7,482,153
Ensembl chrNW_004955416:7,462,770...7,479,242 		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_004955489:8,690,268...8,801,358
Ensembl chrNW_004955489:8,701,814...8,801,358 		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_004955489:8,360,027...8,459,309
Ensembl chrNW_004955489:8,360,072...8,459,377 		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_004955489:8,627,569...8,631,810
Ensembl chrNW_004955489:8,627,569...8,631,810 		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_004955489:8,465,571...8,477,714
Ensembl chrNW_004955489:8,465,164...8,477,746 		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_004955586:791,886...997,713
Ensembl chrNW_004955586:809,386...997,485 		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_004955489:8,888,845...8,944,778
Ensembl chrNW_004955489:8,888,779...8,901,970 		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_004955489:8,125,763...8,127,280
Ensembl chrNW_004955489:8,125,763...8,127,280 		JBrowse link
G Hivep2 HIVEP zinc finger 2 ISO ClinVar Annotator: match by term: Angelman syndrome-like ClinVar PMID:25741868 NCBI chrNW_004955436:17,368,948...17,549,957
Ensembl chrNW_004955436:17,518,603...17,550,790 		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_004955489:8,607,649...8,622,044
Ensembl chrNW_004955489:8,607,629...8,622,044 		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_004955489:8,851,359...8,884,867 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_004955489:8,280,842...8,286,252
Ensembl chrNW_004955489:8,280,794...8,286,252 		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_004955489:9,020,719...9,078,375
Ensembl chrNW_004955489:9,019,425...9,078,705 		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_004955489:8,569,891...8,586,770 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_004955489:7,560,684...7,571,739
Ensembl chrNW_004955489:7,560,684...7,571,892 		JBrowse link
chromosome 15q26-qter deletion syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adamts17 ADAM metallopeptidase with thrombospondin type 1 motif 17 ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chrNW_004955416:27,128,066...27,434,826
Ensembl chrNW_004955416:27,130,559...27,434,747 		JBrowse link
G Aldh1a3 aldehyde dehydrogenase 1 family member A3 ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chrNW_004955416:27,823,611...27,858,112
Ensembl chrNW_004955416:27,823,611...27,858,173 		JBrowse link
G Asb7 ankyrin repeat and SOCS box containing 7 ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chrNW_004955416:27,610,011...27,649,186
Ensembl chrNW_004955416:27,610,011...27,649,356 		JBrowse link
G Cers3 ceramide synthase 3 ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chrNW_004955416:27,461,950...27,577,145
Ensembl chrNW_004955416:27,461,335...27,536,188 		JBrowse link
G Chsy1 chondroitin sulfate synthase 1 ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chrNW_004955416:28,070,981...28,136,848
Ensembl chrNW_004955416:28,070,710...28,135,590 		JBrowse link
G Igf1r insulin like growth factor 1 receptor ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chrNW_004955416:26,101,090...26,382,660
Ensembl chrNW_004955416:26,102,628...26,382,666 		JBrowse link
G Lins1 lines homolog 1 ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chrNW_004955416:27,585,172...27,609,780
Ensembl chrNW_004955416:27,586,257...27,595,117 		JBrowse link
G Lrrc28 leucine rich repeat containing 28 ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chrNW_004955416:26,668,712...26,786,945
Ensembl chrNW_004955416:26,668,712...26,789,756 		JBrowse link
G Lrrk1 leucine rich repeat kinase 1 ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chrNW_004955416:27,860,934...27,988,279
Ensembl chrNW_004955416:27,865,784...27,988,279 		JBrowse link
G Lysmd4 LysM domain containing 4 ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chrNW_004955416:27,057,845...27,063,459
Ensembl chrNW_004955416:27,059,941...27,063,459 		JBrowse link
G Mef2a myocyte enhancer factor 2A ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chrNW_004955416:26,926,753...27,051,171
Ensembl chrNW_004955416:26,953,798...27,051,171 		JBrowse link
G Pgpep1l pyroglutamyl-peptidase I like ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chrNW_004955416:26,069,466...26,094,419 JBrowse link
G Synm synemin ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chrNW_004955416:26,554,074...26,579,804
Ensembl chrNW_004955416:26,554,703...26,578,761 		JBrowse link
G Ttc23 tetratricopeptide repeat domain 23 ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chrNW_004955416:26,583,219...26,664,519
Ensembl chrNW_004955416:26,583,648...26,657,059 		JBrowse link
chromosome 17q11.2 deletion syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rnf135 ring finger protein 135 ISO ClinVar Annotator: match by term: Chromosome 17q11.2 deletion syndrome, 1.4Mb | ClinVar Annotator: match by term: Macrocephaly, macrosomia, facial dysmorphism syndrome ClinVar PMID:17632510 PMID:21681106 PMID:25741868 PMID:27535533 PMID:28135719 More... NCBI chrNW_004955481:7,111,760...7,122,800 JBrowse link
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_004955568:744,453...764,402
Ensembl chrNW_004955568:744,836...764,331 		JBrowse link
G Bcl9 BCL9 transcription coactivator ISO ClinVar Annotator: match by term: Chromosome 1q21.1 deletion syndrome ClinVar NCBI chrNW_004955568:785,361...866,986
Ensembl chrNW_004955568:783,692...811,600 		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_004955568:1,132,594...1,189,176
Ensembl chrNW_004955568:1,132,857...1,189,024 		JBrowse link
G Fmo5 flavin containing dimethylaniline monoxygenase 5 ISO ClinVar Annotator: match by term: Chromosome 1q21.1 deletion syndrome ClinVar NCBI chrNW_004955568:1,225,136...1,247,352
Ensembl chrNW_004955568:1,224,843...1,250,729 		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_004955568:635,319...652,692
Ensembl chrNW_004955568:635,042...653,349 		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_004955568:514,905...516,551
Ensembl chrNW_004955568:515,113...516,435 		JBrowse link
G Prkab2 protein kinase AMP-activated non-catalytic subunit beta 2 ISO ClinVar Annotator: match by term: Chromosome 1q21.1 deletion syndrome ClinVar NCBI chrNW_004955568:1,253,331...1,279,761
Ensembl chrNW_004955568:1,252,736...1,279,761 		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_004955498:8,135,897...8,161,775
Ensembl chrNW_004955498:8,135,897...8,161,775 		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_004955416:4,104,114...4,311,791
Ensembl chrNW_004955416:4,101,977...4,311,791 		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_004955417:15,740,108...15,750,627 JBrowse link
G Atp6v1c1 ATPase H+ transporting V1 subunit C1 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chrNW_004955417:27,340,916...27,376,541
Ensembl chrNW_004955417:27,356,483...27,375,747 		JBrowse link
G Azin1 antizyme inhibitor 1 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chrNW_004955417:27,231,695...27,259,564
Ensembl chrNW_004955417:27,231,696...27,259,564 		JBrowse link
G Baalc BAALC binder of MAP3K1 and KLF4 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chrNW_004955417:27,426,764...27,436,620 JBrowse link
G Cthrc1 collagen triple helix repeat containing 1 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chrNW_004955417:27,520,420...27,525,907 JBrowse link
G Dcaf13 DDB1 and CUL4 associated factor 13 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chrNW_004955417:27,545,128...27,567,829
Ensembl chrNW_004955417:27,544,242...27,569,715 		JBrowse link
G Dcstamp dendrocyte expressed seven transmembrane protein ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chrNW_004955417:28,156,046...28,169,481
Ensembl chrNW_004955417:28,155,842...28,168,049 		JBrowse link
G Dpys dihydropyrimidinase ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chrNW_004955417:28,183,771...28,244,309
Ensembl chrNW_004955417:28,185,407...28,244,307 		JBrowse link
G Fbxo43 F-box protein 43 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chrNW_004955417:15,394,481...15,406,751
Ensembl chrNW_004955417:15,390,969...15,406,751 		JBrowse link
G Fzd6 frizzled class receptor 6 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chrNW_004955417:27,465,730...27,493,752
Ensembl chrNW_004955417:27,465,701...27,494,790 		JBrowse link
G Grhl2 grainyhead like transcription factor 2 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chrNW_004955417:26,401,337...26,533,297
Ensembl chrNW_004955417:26,401,363...26,533,297 		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_004955417:14,076,494...14,081,556
Ensembl chrNW_004955417:14,076,521...14,077,957 		JBrowse link
G Klf10 KLF transcription factor 10 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chrNW_004955417:27,165,146...27,168,604
Ensembl chrNW_004955417:27,164,839...27,168,604 		JBrowse link
G LOC102014046 cytochrome c oxidase subunit 6C ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chrNW_004955417:15,230,562...15,241,610
Ensembl chrNW_004955417:15,230,562...15,241,610 		JBrowse link
G Lrp12 LDL receptor related protein 12 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chrNW_004955417:28,248,620...28,299,845
Ensembl chrNW_004955417:28,252,145...28,291,663 		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_004955414:14,576,356...14,647,500
Ensembl chrNW_004955414:14,576,356...14,647,500 		JBrowse link
G Ncald neurocalcin delta ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chrNW_004955417:26,535,859...26,885,944
Ensembl chrNW_004955417:26,535,859...26,563,301 		JBrowse link
G Nipal2 NIPA like domain containing 2 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chrNW_004955417:13,887,251...13,941,851
Ensembl chrNW_004955417:13,885,766...13,939,796 		JBrowse link
G Odf1 outer dense fiber of sperm tails 1 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chrNW_004955417:27,145,542...27,150,910
Ensembl chrNW_004955417:27,145,542...27,150,969 		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_004955417:14,502,450...14,510,015
Ensembl chrNW_004955417:14,502,451...14,510,160 		JBrowse link
G Pabpc1 poly(A) binding protein cytoplasmic 1 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chrNW_004955417:15,872,906...15,885,246
Ensembl chrNW_004955417:15,868,934...15,885,247 		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_004955417:15,412,527...15,416,090
Ensembl chrNW_004955417:15,412,527...15,416,090 		JBrowse link
G Pop1 POP1 homolog, ribonuclease P/MRP subunit ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chrNW_004955417:13,823,027...13,856,448
Ensembl chrNW_004955417:13,823,057...13,856,448 		JBrowse link
G Rgs22 regulator of G protein signaling 22 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chrNW_004955417:15,284,368...15,381,984
Ensembl chrNW_004955417:15,282,428...15,382,842 		JBrowse link
G Rims2 regulating synaptic membrane exocytosis 2 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chrNW_004955417:27,748,090...28,131,431
Ensembl chrNW_004955417:27,728,428...28,128,877 		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_004955417:15,492,056...15,543,591
Ensembl chrNW_004955417:15,492,056...15,543,591 		JBrowse link
G Rrm2b ribonucleotide reductase regulatory TP53 inducible subunit M2B ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chrNW_004955417:26,949,686...26,976,976
Ensembl chrNW_004955417:26,949,686...26,976,726 		JBrowse link
G Slc25a32 solute carrier family 25 member 32 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chrNW_004955417:27,530,806...27,545,103
Ensembl chrNW_004955417:27,527,144...27,546,043 		JBrowse link
G Snx31 sorting nexin 31 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chrNW_004955417:15,779,500...15,835,668
Ensembl chrNW_004955417:15,778,838...15,835,733 		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_004955417:15,417,604...15,482,650
Ensembl chrNW_004955417:15,421,737...15,481,797 		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_004955417:14,098,851...14,381,553
Ensembl chrNW_004955417:14,095,694...14,381,607 		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_004955417:26,997,572...27,085,511
Ensembl chrNW_004955417:26,998,513...27,083,005 		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_004955417:14,570,399...15,228,106
Ensembl chrNW_004955417:14,570,904...15,227,877 		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_004955417:16,047,263...16,070,506
Ensembl chrNW_004955417:16,047,263...16,072,854 		JBrowse link
G Zfpm2 zinc finger protein, FOG family member 2 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chrNW_004955417:28,931,428...29,268,778
Ensembl chrNW_004955417:28,920,210...29,269,271 		JBrowse link
G Znf706 zinc finger protein 706 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chrNW_004955417:16,263,846...16,268,526
Ensembl chrNW_004955417:16,263,846...16,268,527 		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 susceptibility ISO ClinVar Annotator: match by term: Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness ClinVar
OMIM		 PMID:8659547 PMID:16199547 PMID:20127975 PMID:25741868 PMID:27889061 More... NCBI chrNW_004955421:17,948,117...18,157,379
Ensembl chrNW_004955421:17,947,277...18,154,090 		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_004955532:3,075,195...3,077,505
Ensembl chrNW_004955532:3,075,110...3,079,116 		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_004955415:11,834,007...11,848,032 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_004955415:11,797,287...11,826,936
Ensembl chrNW_004955415:11,795,031...11,823,577 		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_004955467:9,684,070...9,689,454
Ensembl chrNW_004955467:9,684,250...9,689,356 		JBrowse link
G Asgr1 asialoglycoprotein receptor 1 ISO ClinVar Annotator: match by term: Faundes-Banka syndrome ClinVar PMID:31690835 NCBI chrNW_004955467:9,728,918...9,732,548
Ensembl chrNW_004955467:9,729,345...9,732,355 		JBrowse link
G Cldn7 claudin 7 ISO ClinVar Annotator: match by term: Faundes-Banka syndrome ClinVar PMID:31690835 NCBI chrNW_004955467:9,652,093...9,654,291
Ensembl chrNW_004955467:9,652,093...9,654,291 		JBrowse link
G Ctdnep1 CTD nuclear envelope phosphatase 1 ISO ClinVar Annotator: match by term: Faundes-Banka syndrome ClinVar PMID:31690835 NCBI chrNW_004955467:9,660,088...9,666,878
Ensembl chrNW_004955467:9,660,288...9,666,878 		JBrowse link
G Dlg4 discs large MAGUK scaffold protein 4 ISO ClinVar Annotator: match by term: Faundes-Banka syndrome ClinVar PMID:31690835 NCBI chrNW_004955467:9,691,733...9,715,872
Ensembl chrNW_004955467:9,690,469...9,715,872 		JBrowse link
G Dvl2 dishevelled segment polarity protein 2 ISO ClinVar Annotator: match by term: Faundes-Banka syndrome ClinVar PMID:31690835 NCBI chrNW_004955467:9,675,912...9,683,996
Ensembl chrNW_004955467:9,675,912...9,683,996 		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_004955467:9,603,800...9,608,490 JBrowse link
G Elp5 elongator acetyltransferase complex subunit 5 ISO ClinVar Annotator: match by term: Faundes-Banka syndrome ClinVar PMID:31690835 NCBI chrNW_004955467:9,654,532...9,660,035
Ensembl chrNW_004955467:9,651,219...9,659,502 		JBrowse link
G Gabarap GABA type A receptor-associated protein ISO ClinVar Annotator: match by term: Faundes-Banka syndrome ClinVar PMID:31690835 NCBI chrNW_004955467:9,667,938...9,670,067
Ensembl chrNW_004955467:9,667,941...9,670,067 		JBrowse link
G Gps2 G protein pathway suppressor 2 ISO ClinVar Annotator: match by term: Faundes-Banka syndrome ClinVar PMID:31690835 NCBI chrNW_004955467:9,600,829...9,604,148
Ensembl chrNW_004955467:9,600,829...9,603,606 		JBrowse link
G Neurl4 neuralized E3 ubiquitin protein ligase 4 ISO ClinVar Annotator: match by term: Faundes-Banka syndrome ClinVar PMID:31690835 NCBI chrNW_004955467:9,588,651...9,600,680
Ensembl chrNW_004955467:9,588,651...9,600,680 		JBrowse link
G Phf23 PHD finger protein 23 ISO ClinVar Annotator: match by term: Faundes-Banka syndrome ClinVar PMID:31690835 NCBI chrNW_004955467:9,671,133...9,675,434
Ensembl chrNW_004955467:9,671,133...9,675,434 		JBrowse link
G Slc2a4 solute carrier family 2 member 4 ISO ClinVar Annotator: match by term: Faundes-Banka syndrome ClinVar PMID:31690835 NCBI chrNW_004955467:9,630,304...9,636,005
Ensembl chrNW_004955467:9,630,304...9,636,005 		JBrowse link
G Ybx2 Y-box binding protein 2 ISO ClinVar Annotator: match by term: Faundes-Banka syndrome ClinVar PMID:31690835 NCBI chrNW_004955467:9,624,506...9,629,904
Ensembl chrNW_004955467:9,624,019...9,629,904 		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_004955487:9,219,528...9,224,818
Ensembl chrNW_004955487:9,219,528...9,224,818 		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_004955487:9,219,528...9,224,818
Ensembl chrNW_004955487:9,219,528...9,224,818 		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_004955468:11,898,786...11,924,341
Ensembl chrNW_004955468:11,898,915...11,922,400 		JBrowse link
Filippi syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ckap2l cytoskeleton associated protein 2 like ISO ClinVar Annotator: match by term: Filippi syndrome OMIM
ClinVar		 PMID:8867657 PMID:15365457 PMID:18553552 PMID:25439729 PMID:25741868 More... NCBI chrNW_004955470:1,552,279...1,581,261
Ensembl chrNW_004955470:1,552,128...1,581,980 		JBrowse link
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_004955409:9,432,835...9,439,680
Ensembl chrNW_004955409:9,432,841...9,440,303 		JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO protein:increased expression:cerebral cortex RGD PMID:22459050 RGD:8547829 NCBI chrNW_004955445:11,295,500...11,303,322
Ensembl chrNW_004955445:11,295,448...11,303,288 		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_004955486:2,487,642...2,599,694
Ensembl chrNW_004955486:2,487,642...2,599,694 		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_004955513:2,197,037...2,244,992
Ensembl chrNW_004955513:2,197,037...2,244,992 		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_004955442:15,178,356...15,216,978
Ensembl chrNW_004955442:15,178,487...15,216,362 		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_004955438:15,319,033...15,321,648 JBrowse link
G Lage3 L antigen family member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28805828 NCBI chrNW_004955580:992,190...993,617
Ensembl chrNW_004955580:992,190...993,617 		JBrowse link
G Osgep O-sialoglycoprotein endopeptidase ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome ClinVar PMID:17897280 PMID:25741868 PMID:28272532 PMID:28805828 NCBI chrNW_004955550:1,266,191...1,273,093
Ensembl chrNW_004955550:1,265,401...1,273,299 		JBrowse link
G Tp53rk TP53 regulating kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:28805828 NCBI chrNW_004955445:10,734,723...10,737,445
Ensembl chrNW_004955445:10,734,723...10,738,570 		JBrowse link
G Tprkb TP53RK binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:28805828 NCBI chrNW_004955424:11,961,994...11,969,610
Ensembl chrNW_004955424:11,961,994...11,969,610 		JBrowse link
G Wdr4 WD repeat domain 4 ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome ClinVar PMID:25741868 PMID:30079490 NCBI chrNW_004955407:39,044,328...39,066,277
Ensembl chrNW_004955407:39,044,328...39,066,277 		JBrowse link
G Wdr73 WD repeat domain 73 ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome ClinVar PMID:25741868 NCBI chrNW_004955416:14,471,479...14,485,416
Ensembl chrNW_004955416:14,471,421...14,485,201 		JBrowse link
G Znf592 zinc finger protein 592 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20531441 NCBI chrNW_004955416:14,328,250...14,365,346
Ensembl chrNW_004955416:14,326,603...14,365,400 		JBrowse link
Galloway-Mowat syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eng endoglin ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 1 ClinVar PMID:12673790 PMID:15879500 PMID:21158752 PMID:23399955 PMID:24055113 More... NCBI chrNW_004955419:818,797...853,319
Ensembl chrNW_004955419:818,932...852,694 		JBrowse link
G Wdr73 WD repeat domain 73 ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 1 | ClinVar Annotator: match by term: WDR73-related condition OMIM
ClinVar		 PMID:11391656 PMID:12030328 PMID:16217710 PMID:20531441 PMID:25466283 More... NCBI chrNW_004955416:14,471,479...14,485,416
Ensembl chrNW_004955416:14,471,421...14,485,201 		JBrowse link
G Znf592 zinc finger protein 592 ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 1 ClinVar PMID:12030328 PMID:20531441 PMID:25741868 PMID:26123727 NCBI chrNW_004955416:14,328,250...14,365,346
Ensembl chrNW_004955416:14,326,603...14,365,400 		JBrowse link
Galloway-Mowat Syndrome 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CUNH1orf122 chromosome unknown C1orf122 homolog ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 10 ClinVar PMID:31481669 NCBI chrNW_004955452:15,579,225...15,580,362
Ensembl chrNW_004955452:15,579,035...15,580,362 		JBrowse link
G Yrdc yrdC N6-threonylcarbamoyltransferase domain containing ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 10 OMIM
ClinVar		 PMID:31481669 PMID:34545459 NCBI chrNW_004955452:15,575,421...15,579,186
Ensembl chrNW_004955452:15,575,421...15,579,186 		JBrowse link
Galloway-Mowat syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lage3 L antigen family member 3 ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 2, X-linked OMIM
ClinVar		 PMID:12693786 PMID:25741868 PMID:28492532 PMID:28805828 NCBI chrNW_004955580:992,190...993,617
Ensembl chrNW_004955580:992,190...993,617 		JBrowse link