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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 4930590J08Rik RIKEN cDNA 4930590J08 gene ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 6:91,877,732...91,928,717
Ensembl chr 6:91,879,790...91,927,706 		JBrowse link
G Ankrd28 ankyrin repeat domain 28 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr14:31,418,687...31,552,374
Ensembl chr14:31,420,725...31,552,608 		JBrowse link
G Btd biotinidase ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr14:31,363,014...31,390,154
Ensembl chr14:31,362,985...31,390,536 		JBrowse link
G Capn7 calpain 7 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr14:31,058,582...31,093,944
Ensembl chr14:31,058,595...31,093,943 		JBrowse link
G Ccdc174 coiled-coil domain containing 174 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 6:91,819,983...91,876,830
Ensembl chr 6:91,855,034...91,876,824 		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 chr 6:91,441,258...91,450,405
Ensembl chr 6:91,439,154...91,450,528 		JBrowse link
G Colq collagen like tail subunit of asymmetric acetylcholinesterase ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr14:31,245,039...31,299,820
Ensembl chr14:31,245,039...31,313,300 		JBrowse link
G Dazl deleted in azoospermia-like ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr17:50,586,422...50,600,627
Ensembl chr17:50,586,423...50,600,664 		JBrowse link
G Dph3 diphthamine biosynthesis 3 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr14:31,802,474...31,807,649
Ensembl chr14:31,802,523...31,807,686 		JBrowse link
G Eaf1 ELL associated factor 1 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr14:31,217,036...31,231,815
Ensembl chr14:31,216,356...31,231,815 		JBrowse link
G Efhb EF hand domain family, member B ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr17:53,705,077...53,770,362
Ensembl chr17:53,705,917...53,770,349 		JBrowse link
G Fbln2 fibulin 2 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 6:91,189,442...91,249,522
Ensembl chr 6:91,189,437...91,249,522 		JBrowse link
G Fgd5 FYVE, RhoGEF and PH domain containing 5 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 6:91,955,809...92,052,986
Ensembl chr 6:91,955,859...92,052,985 		JBrowse link
G Galnt15 polypeptide N-acetylgalactosaminyltransferase 15 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr14:31,750,739...31,784,161
Ensembl chr14:31,750,946...31,784,154 		JBrowse link
G Grip2 glutamate receptor interacting protein 2 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 6:91,738,433...91,820,884
Ensembl chr 6:91,738,490...91,804,231 		JBrowse link
G Hacl1 2-hydroxyacyl-CoA lyase 1 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr14:31,329,183...31,364,201
Ensembl chr14:31,320,687...31,363,243 		JBrowse link
G Hdac11 histone deacetylase 11 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 6:91,133,652...91,151,674
Ensembl chr 6:91,133,647...91,151,674 		JBrowse link
G Kat2b K(lysine) acetyltransferase 2B ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr17:53,873,802...53,979,749
Ensembl chr17:53,873,889...53,979,748 		JBrowse link
G Kcnh8 potassium voltage-gated channel, subfamily H (eag-related), member 8 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr17:52,909,535...53,286,892
Ensembl chr17:52,909,737...53,286,222 		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 chr 6:91,493,017...91,499,602
Ensembl chr 6:91,492,910...91,499,607 		JBrowse link
G Mettl6 methyltransferase 6, methylcytidine ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr14:31,180,775...31,217,007
Ensembl chr14:31,195,535...31,216,997 		JBrowse link
G Mrps25 mitochondrial ribosomal protein S25 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 6:92,146,493...92,161,004
Ensembl chr 6:92,146,506...92,161,014 		JBrowse link
G Nr2c2 nuclear receptor subfamily 2, group C, member 2 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 6:92,068,426...92,150,039
Ensembl chr 6:92,068,371...92,151,275 		JBrowse link
G Nup210 nucleoporin 210 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 6:90,990,049...91,095,920
Ensembl chr 6:90,990,050...91,093,811 		JBrowse link
G Oxnad1 oxidoreductase NAD-binding domain containing 1 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr14:31,807,301...31,825,160
Ensembl chr14:31,807,331...31,825,159 		JBrowse link
G Plcl2 phospholipase C-like 2 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr17:50,815,893...50,995,522
Ensembl chr17:50,816,431...50,995,512 		JBrowse link
G Pp2d1 protein phosphatase 2C-like domain containing 1 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr17:53,814,488...53,846,479
Ensembl chr17:53,814,488...53,846,479 		JBrowse link
G Rab5a RAB5A, member RAS oncogene family ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr17:53,786,262...53,814,706
Ensembl chr17:53,786,262...53,814,708 		JBrowse link
G Rbsn rabenosyn, RAB effector ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 6:92,163,693...92,191,874
Ensembl chr 6:92,163,693...92,191,906 		JBrowse link
G Rftn1 raftlin lipid raft linker 1 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr17:50,300,287...50,497,525
Ensembl chr17:50,299,285...50,497,702 		JBrowse link
G Satb1 special AT-rich sequence binding protein 1 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr17:52,043,215...52,140,318
Ensembl chr17:52,043,215...52,140,318 		JBrowse link
G Setd5 SET domain containing 5 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:21681106 NCBI chr 6:113,054,326...113,130,393
Ensembl chr 6:113,054,326...113,130,396 		JBrowse link
G Sh3bp5 SH3-domain binding protein 5 (BTK-associated) ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr14:31,094,571...31,158,056
Ensembl chr14:31,081,837...31,158,035 		JBrowse link
G Slc6a6 solute carrier family 6 (neurotransmitter transporter, taurine), member 6 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 6:91,661,031...91,736,044
Ensembl chr 6:91,661,034...91,736,047 		JBrowse link
G Tbc1d5 TBC1 domain family, member 5 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr17:51,040,155...51,488,228
Ensembl chr17:51,040,152...51,486,380 		JBrowse link
G Thumpd3 THUMP domain containing 3 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:21681106 NCBI chr 6:113,023,292...113,045,239
Ensembl chr 6:113,023,186...113,045,234 		JBrowse link
G Tmem43 transmembrane protein 43 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 6:91,450,689...91,465,445
Ensembl chr 6:91,450,685...91,465,445 		JBrowse link
G Wnt7a wingless-type MMTV integration site family, member 7A ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 6:91,340,963...91,388,335
Ensembl chr 6:91,340,963...91,388,345 		JBrowse link
G Xpc xeroderma pigmentosum, complementation group C ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 6:91,466,287...91,492,870
Ensembl chr 6:91,466,287...91,492,870 		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 chr 9:35,035,710...35,087,283
Ensembl chr 9:35,035,704...35,087,357 		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 (mitochondrial thiamine pyrophosphate carrier), member 19 ISO CTD Direct Evidence: marker/mechanism
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
CTD
ClinVar		 PMID:12185364 PMID:18414213 PMID:19798730 PMID:25741868 PMID:26467025 More... NCBI chr11:115,504,991...115,519,122
Ensembl chr11:115,505,004...115,519,121 		JBrowse link
Arboleda-Tham syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kat6a K(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 chr 8:23,349,458...23,433,275
Ensembl chr 8:23,349,551...23,433,275 		JBrowse link
Asparagine Synthetase Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Asns asparagine synthetase ISO ClinVar Annotator: match by term: ASNS DEFICIENCY | ClinVar Annotator: match by term: ASNS-related condition | ClinVar Annotator: match by term: Asparagine synthetase deficiency OMIM
ClinVar		 PMID:16199547 PMID:24139043 PMID:25227173 PMID:25663424 PMID:25741868 More... NCBI chr 6:7,675,169...7,693,209
Ensembl chr 6:7,675,169...7,693,254 		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 triple functional domain (PTPRF interacting) 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 chr15:27,730,735...28,025,954
Ensembl chr15:27,730,737...28,025,934 		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 chr11:16,700,153...16,868,158
Ensembl chr11:16,702,203...16,868,158 		JBrowse link
G Gm36566 predicted gene, 36566 ISO ClinVar Annotator: match by term: Cowden syndrome 1 ClinVar PMID:2338203 PMID:12844284 PMID:16773562 PMID:17427195 PMID:21194675 More... NCBI chr19:32,731,847...32,734,812 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 chr 3:32,451,203...32,520,256
Ensembl chr 3:32,451,820...32,522,635 		JBrowse link
G Pten phosphatase and tensin homolog susceptibility IAGP
ISO		 OMIM:153480
ClinVar Annotator: match by term: Bannayan-Riley-Ruvalcaba syndrome | ClinVar Annotator: match by term: Cowden syndrome 1		 MouseDO
OMIM
ClinVar		 PMID:1097835 PMID:1336932 PMID:1945792 PMID:2333580 PMID:2338203 More... NCBI chr19:32,734,977...32,803,560
Ensembl chr19:32,734,897...32,803,560 		JBrowse link
G Sdhb succinate dehydrogenase complex, subunit B, iron sulfur (Ip) ISO ClinVar Annotator: match by term: Cowden syndrome 1 ClinVar PMID:19802898 PMID:20923864 PMID:21979946 PMID:23072324 PMID:23512077 More... NCBI chr 4:140,688,582...140,706,509
Ensembl chr 4:140,688,514...140,706,504 		JBrowse link
Baralle-Macken Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Copb1 coatomer protein complex, subunit beta 1 ISO ClinVar Annotator: match by term: Baralle-Macken syndrome OMIM
ClinVar		 PMID:25741868 PMID:33632302 NCBI chr 7:113,814,794...113,853,915
Ensembl chr 7:113,814,794...113,853,946 		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 chr 7:44,526,189...44,544,771
Ensembl chr 7:44,526,189...44,542,136 		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 chr 2:125,142,514...125,348,417
Ensembl chr 2:125,142,514...125,349,913 		JBrowse link
G Thoc6 THO complex 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 chr17:23,887,592...23,892,891
Ensembl chr17:23,887,588...23,892,856 		JBrowse link
Bloom syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 1700017B05Rik RIKEN cDNA 1700017B05 gene ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 9:57,159,605...57,169,882
Ensembl chr 9:57,160,400...57,169,895 		JBrowse link
G 2300009A05Rik RIKEN cDNA 2300009A05 gene ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 9:63,301,729...63,306,526
Ensembl chr 9:63,301,729...63,306,528 		JBrowse link
G 3110040N11Rik RIKEN cDNA 3110040N11 gene ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:81,430,031...81,439,203
Ensembl chr 7:81,431,930...81,439,226 		JBrowse link
G AA467197 expressed sequence AA467197 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 2:122,479,807...122,482,996
Ensembl chr 2:122,478,906...122,483,111 		JBrowse link
G Aagab alpha- and gamma-adaptin binding protein ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 9:63,509,897...63,551,872
Ensembl chr 9:63,509,942...63,551,870 		JBrowse link
G Abhd17c abhydrolase domain containing 17C ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:83,758,564...83,801,101
Ensembl chr 7:83,758,564...83,801,101 		JBrowse link
G Abhd2 abhydrolase domain containing 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:17407155 PMID:28492532 NCBI chr 7:78,923,002...79,015,257
Ensembl chr 7:78,922,947...79,015,256 		JBrowse link
G Acan aggrecan ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:17407155 PMID:28492532 NCBI chr 7:78,702,974...78,764,847
Ensembl chr 7:78,703,231...78,764,847 		JBrowse link
G Acsbg1 acyl-CoA synthetase bubblegum family member 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 9:54,512,163...54,569,169
Ensembl chr 9:54,512,161...54,569,154 		JBrowse link
G Actc1 actin, alpha, cardiac muscle 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 2:113,877,763...113,883,356
Ensembl chr 2:113,877,763...113,884,029 		JBrowse link
G Adal adenosine deaminase-like ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 2:120,970,525...120,989,921
Ensembl chr 2:120,970,909...120,987,161 		JBrowse link
G Adam10 a disintegrin and metallopeptidase domain 10 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 9:70,586,133...70,687,511
Ensembl chr 9:70,586,279...70,687,511 		JBrowse link
G Adamts7 ADAM metallopeptidase with thrombospondin type 1 motif 7 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 9:90,041,420...90,082,155
Ensembl chr 9:90,045,122...90,090,124 		JBrowse link
G Adamtsl3 ADAMTS-like 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:81,984,612...82,263,658
Ensembl chr 7:81,984,902...82,263,658 		JBrowse link
G Adpgk ADP-dependent glucokinase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 9:59,198,855...59,223,483
Ensembl chr 9:59,198,841...59,231,335 		JBrowse link
G Aen apoptosis enhancing nuclease ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:78,545,675...78,560,957
Ensembl chr 7:78,545,602...78,560,957 		JBrowse link
G Afg2b AFG2 AAA ATPase homolog B ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 2:122,461,112...122,474,933
Ensembl chr 2:122,461,120...122,474,750 		JBrowse link
G Agbl1 ATP/GTP binding protein-like 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:75,879,311...76,774,446
Ensembl chr 7:75,879,635...76,774,446 		JBrowse link
G Akap13 A kinase anchor protein 13 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:75,105,271...75,404,357
Ensembl chr 7:75,105,282...75,404,357 		JBrowse link
G Aldh1a2 aldehyde dehydrogenase family 1, subfamily A2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 9:71,123,071...71,203,525
Ensembl chr 9:71,123,071...71,203,525 		JBrowse link
G Alpk3 alpha-kinase 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:80,707,321...80,755,360
Ensembl chr 7:80,707,348...80,755,360 		JBrowse link
G Ankdd1a ankyrin repeat and death domain containing 1A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 9:65,395,746...65,427,691
Ensembl chr 9:65,395,752...65,427,475 		JBrowse link
G Ankrd34c ankyrin repeat domain 34C ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 9:89,605,986...89,620,787
Ensembl chr 9:89,607,298...89,620,528 		JBrowse link
G Ankrd63 ankyrin repeat domain 63 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 2:118,529,584...118,534,444
Ensembl chr 2:118,529,584...118,534,444 		JBrowse link
G Anp32a acidic nuclear phosphoprotein 32 family member A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 9:62,248,637...62,286,084
Ensembl chr 9:62,248,575...62,286,094 		JBrowse link
G Anpep alanyl aminopeptidase, membrane ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:17407155 PMID:28492532 NCBI chr 7:79,471,551...79,497,958
Ensembl chr 7:79,471,551...79,510,807 		JBrowse link
G Anxa2 annexin A2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 9:69,360,978...69,399,074
Ensembl chr 9:69,360,902...69,399,077 		JBrowse link
G Ap3b2 adaptor-related protein complex 3, beta 2 subunit ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:81,110,147...81,143,722
Ensembl chr 7:81,110,147...81,143,673 		JBrowse link
G Ap3s2 adaptor-related protein complex 3, sigma 2 subunit ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:17407155 PMID:28492532 NCBI chr 7:79,525,073...79,570,388
Ensembl chr 7:79,525,073...79,570,397 		JBrowse link
G Ap4e1 adaptor-related protein complex AP-4, epsilon 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 2:126,850,600...126,911,734
Ensembl chr 2:126,850,637...126,909,829 		JBrowse link
G Aph1b aph1 homolog B, gamma secretase subunit ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 9:66,682,484...66,704,671
Ensembl chr 9:66,682,484...66,702,772 		JBrowse link
G Aqp9 aquaporin 9 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 9:71,017,941...71,075,170
Ensembl chr 9:71,017,941...71,075,964 		JBrowse link
G Aqr aquarius ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 2:113,931,642...114,005,788
Ensembl chr 2:113,931,651...114,017,505 		JBrowse link
G Arid3b AT-rich interaction domain 3B ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 9:57,697,636...57,744,130
Ensembl chr 9:57,697,636...57,744,076 		JBrowse link
G Arih1 ariadne RBR E3 ubiquitin protein ligase 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 9:59,295,837...59,395,469
Ensembl chr 9:59,295,541...59,393,901 		JBrowse link
G Arnt2 aryl hydrocarbon receptor nuclear translocator 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:83,895,486...84,059,201
Ensembl chr 7:83,895,486...84,059,384 		JBrowse link
G Arpin actin-related protein 2/3 complex inhibitor ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:17407155 PMID:28492532 NCBI chr 7:79,575,107...79,585,012
Ensembl chr 7:79,575,109...79,585,107 		JBrowse link
G Arpp19 cAMP-regulated phosphoprotein 19 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 9:74,944,896...74,967,595
Ensembl chr 9:74,944,896...74,967,595 		JBrowse link
G Atosa atos homolog A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 9:74,860,162...74,939,750
Ensembl chr 9:74,860,151...74,939,746 		JBrowse link
G Atp8b4 ATPase, class I, type 8B, member 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 2:126,162,893...126,342,589
Ensembl chr 2:126,162,893...126,342,594 		JBrowse link
G Aven apoptosis, caspase activation inhibitor ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 2:112,323,231...112,461,598
Ensembl chr 2:112,323,309...112,464,918 		JBrowse link
G B2m beta-2 microglobulin ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 2:121,978,168...121,983,563
Ensembl chr 2:121,978,167...121,983,564 		JBrowse link
G Bahd1 bromo adjacent homology domain containing 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 2:118,730,817...118,755,009
Ensembl chr 2:118,730,858...118,755,009 		JBrowse link
G Bbs4 Bardet-Biedl syndrome 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 9:59,229,249...59,260,791
Ensembl chr 9:59,229,273...59,260,791 		JBrowse link
G Bcl2a1b B cell leukemia/lymphoma 2 related protein A1b ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 9:89,081,326...89,089,891
Ensembl chr 9:89,081,262...89,089,880 		JBrowse link
G Bcl2l10 Bcl2-like 10 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 9:75,255,040...75,258,922
Ensembl chr 9:75,255,040...75,258,931 		JBrowse link
G Blm Bloom syndrome, RecQ like helicase ISO
IAGP		 ClinVar Annotator: match by term: Bloom syndrome | ClinVar Annotator: match by term: Bloom-Torre-Machacek syndrome
OMIM:210900
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:2678854 PMID:7585968 PMID:7799980 PMID:9285778 PMID:9388480 More... RGD:1599420, RGD:1580056 NCBI chr 7:80,104,839...80,184,896
Ensembl chr 7:80,104,481...80,184,867 		JBrowse link
G Bloc1s6 biogenesis of lysosomal organelles complex-1, subunit 6, pallidin ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 2:122,580,425...122,591,407
Ensembl chr 2:122,580,423...122,591,395 		JBrowse link
G Bmf BCL2 modifying factor ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 2:118,359,238...118,385,240
Ensembl chr 2:118,359,238...118,380,168 		JBrowse link
G Bnc1 basonuclin zinc finger protein 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:81,616,401...81,642,047
Ensembl chr 7:81,616,401...81,642,055 		JBrowse link
G Bnip2 BCL2/adenovirus E1B interacting protein 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 9:69,896,660...69,918,941
Ensembl chr 9:69,896,748...69,915,599 		JBrowse link
G Btbd1 BTB domain containing 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:81,441,822...81,479,262
Ensembl chr 7:81,441,822...81,479,179 		JBrowse link
G Bub1b BUB1B, mitotic checkpoint serine/threonine kinase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 2:118,428,684...118,472,073
Ensembl chr 2:118,428,692...118,472,072 		JBrowse link
G C2cd4a C2 calcium-dependent domain containing 4A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 9:67,737,814...67,739,612
Ensembl chr 9:67,737,771...67,739,612 		JBrowse link
G C2cd4b C2 calcium-dependent domain containing 4B ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 9:67,623,506...67,668,215
Ensembl chr 9:67,666,719...67,668,212 		JBrowse link
G Calml4 calmodulin-like 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 9:62,765,068...62,783,203
Ensembl chr 9:62,765,362...62,783,203 		JBrowse link
G Capn3 calpain 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 2:120,294,074...120,335,400
Ensembl chr 2:120,294,053...120,335,399 		JBrowse link
G Car12 carbonic anhydrase 12 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 9:66,619,026...66,674,127
Ensembl chr 9:66,620,968...66,674,127 		JBrowse link
G Catsper2 cation channel, sperm associated 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 2:121,222,109...121,245,082
Ensembl chr 2:121,223,112...121,244,273 		JBrowse link
G Ccdc32 coiled-coil domain containing 32 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 2:118,848,260...118,859,887
Ensembl chr 2:118,848,260...118,859,874 		JBrowse link
G Ccdc33 coiled-coil domain containing 33 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 9:57,935,956...58,026,111
Ensembl chr 9:57,935,960...58,026,106 		JBrowse link
G Ccdc9b coiled-coil domain containing 9B ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 2:118,584,626...118,593,421
Ensembl chr 2:118,584,639...118,593,142 		JBrowse link
G Ccnb2 cyclin B2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 9:70,314,971...70,328,836
Ensembl chr 9:70,314,974...70,328,829 		JBrowse link
G Ccndbp1 cyclin D-type binding-protein 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 2:120,838,925...120,847,374
Ensembl chr 2:120,838,884...120,847,385 		JBrowse link
G Ccpg1 cell cycle progression 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 9:72,892,692...72,923,622
Ensembl chr 9:72,892,711...72,923,622 		JBrowse link
G Cd276 CD276 antigen ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 9:58,431,581...58,463,437
Ensembl chr 9:58,431,581...58,462,720 		JBrowse link
G Cdan1 codanin 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 2:120,546,635...120,561,998
Ensembl chr 2:120,546,635...120,680,609 		JBrowse link
G Cdin1 CDAN1 interacting nuclease 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 2:115,411,388...115,609,263
Ensembl chr 2:115,412,197...115,609,249 		JBrowse link
G Celf6 CUGBP, Elav-like family member 6 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 9:59,485,587...59,516,316
Ensembl chr 9:59,485,200...59,514,575 		JBrowse link
G Cemip cell migration inducing protein, hyaluronan binding ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:83,582,065...83,735,893
Ensembl chr 7:83,582,065...83,735,710 		JBrowse link
G Cep152 centrosomal protein 152 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 2:125,391,784...125,467,081
Ensembl chr 2:125,405,008...125,467,033 		JBrowse link
G Cfap161 cilia and flagella associated protein 161 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:83,424,820...83,447,528
Ensembl chr 7:83,423,309...83,444,088 		JBrowse link
G Cgnl1 cingulin-like 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 9:71,533,789...71,716,582
Ensembl chr 9:71,533,791...71,678,884 		JBrowse link
G Chac1 ChaC, cation transport regulator 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 2:119,181,723...119,184,807
Ensembl chr 2:119,181,710...119,184,862 		JBrowse link
G Chp1 calcineurin-like EF hand protein 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 2:119,378,172...119,417,505
Ensembl chr 2:119,378,178...119,417,508 		JBrowse link
G Chrm5 cholinergic receptor, muscarinic 5 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 2:112,306,055...112,365,487
Ensembl chr 2:112,309,516...112,311,114 		JBrowse link
G Chrna3 cholinergic receptor, nicotinic, alpha polypeptide 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 9:54,917,401...54,933,846
Ensembl chr 9:54,917,395...54,933,846 		JBrowse link
G Chrna5 cholinergic receptor, nicotinic, alpha polypeptide 5 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 9:54,888,112...54,918,704
Ensembl chr 9:54,888,164...54,915,063 		JBrowse link
G Chrnb4 cholinergic receptor, nicotinic, beta polypeptide 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 9:54,935,438...54,956,236
Ensembl chr 9:54,935,438...54,956,063 		JBrowse link
G Chst14 carbohydrate sulfotransferase 14 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 2:118,756,978...118,759,066
Ensembl chr 2:118,756,977...118,759,066 		JBrowse link
G Ciao2a cytosolic iron-sulfur assembly component 2A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 9:66,033,878...66,046,250
Ensembl chr 9:66,033,893...66,046,237 		JBrowse link
G Cib1 calcium and integrin binding 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:17407155 PMID:28492532 NCBI chr 7:79,876,904...79,882,367
Ensembl chr 7:79,876,895...79,882,561 		JBrowse link
G Cib2 calcium and integrin binding family member 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 9:54,452,074...54,467,512
Ensembl chr 9:54,452,078...54,467,502 		JBrowse link
G Cilp cartilage intermediate layer protein, nucleotide pyrophosphohydrolase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 9:65,172,462...65,187,896
Ensembl chr 9:65,172,462...65,187,887 		JBrowse link
G Cimap1c ciliary microtubule associated protein 1C ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 9:56,755,940...56,779,199
Ensembl chr 9:56,755,943...56,771,963 		JBrowse link
G Ckmt1 creatine kinase, mitochondrial 1, ubiquitous ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 2:121,188,257...121,194,218
Ensembl chr 2:121,188,195...121,194,218 		JBrowse link
G Clk3 CDC-like kinase 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 9:57,657,904...57,672,397
Ensembl chr 9:57,657,907...57,673,143 		JBrowse link
G Cln6 ceroid-lipofuscinosis, neuronal 6 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 9:62,746,067...62,759,288
Ensembl chr 9:62,746,067...62,759,288 		JBrowse link
G Clpx caseinolytic mitochondrial matrix peptidase chaperone subunit ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 9:65,201,533...65,237,940
Ensembl chr 9:65,201,542...65,237,940 		JBrowse link
G Commd4 COMM domain containing 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 9:57,062,319...57,065,633
Ensembl chr 9:57,062,319...57,065,615 		JBrowse link
G Cops2 COP9 signalosome subunit 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 2:125,672,222...125,701,002
Ensembl chr 2:125,672,224...125,701,059 		JBrowse link
G Coro2b coronin, actin binding protein, 2B ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 9:62,326,770...62,444,326
Ensembl chr 9:62,326,774...62,444,326 		JBrowse link
G Cox5a cytochrome c oxidase subunit 5A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 9:57,423,012...57,439,710
Ensembl chr 9:57,428,557...57,439,709 		JBrowse link
G Cpeb1 cytoplasmic polyadenylation element binding protein 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:80,996,774...81,105,207
Ensembl chr 7:80,996,774...81,105,213 		JBrowse link
G Cplx3 complexin 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 9:57,507,275...57,513,564
Ensembl chr 9:57,507,275...57,513,564 		JBrowse link
G Crabp1 cellular retinoic acid binding protein I ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 9:54,672,032...54,680,394
Ensembl chr 9:54,672,032...54,680,394 		JBrowse link
G Crtc3 CREB regulated transcription coactivator 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:17407155 PMID:28492532 NCBI chr 7:80,236,375...80,339,443
Ensembl chr 7:80,236,375...80,338,625 		JBrowse link
G Csk c-src tyrosine kinase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 9:57,533,929...57,560,758
Ensembl chr 9:57,533,929...57,560,914 		JBrowse link
G Csnk1g1 casein kinase 1, gamma 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 9:65,816,235...65,952,297
Ensembl chr 9:65,816,206...65,952,297 		JBrowse link
G Cspg4 chondroitin sulfate proteoglycan 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 9:56,772,388...56,807,154
Ensembl chr 9:56,772,317...56,807,154 		JBrowse link
G Ctdspl2 CTD small phosphatase like 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 2:121,785,879...121,845,807
Ensembl chr 2:121,786,482...121,844,123 		JBrowse link
G Ctsh cathepsin H ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 9:89,936,320...89,958,148
Ensembl chr 9:89,936,205...89,958,142 		JBrowse link
G Ctxn2 cortexin 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 2:124,978,534...124,989,763
Ensembl chr 2:124,978,553...124,989,761 		JBrowse link
G Cyp11a1 cytochrome P450, family 11, subfamily a, polypeptide 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 9:57,905,307...57,934,314
Ensembl chr 9:57,913,694...57,934,306 		JBrowse link
G Cyp19a1 cytochrome P450, family 19, subfamily a, polypeptide 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 9:54,073,221...54,175,448
Ensembl chr 9:54,073,221...54,175,394 		JBrowse link
G Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 9:57,595,211...57,611,107
Ensembl chr 9:57,595,211...57,611,107 		JBrowse link
G Cyp1a2 cytochrome P450, family 1, subfamily a, polypeptide 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 9:57,584,220...57,590,938
Ensembl chr 9:57,584,220...57,590,986 		JBrowse link
G Dapk2 death-associated protein kinase 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 9:66,065,364...66,179,524
Ensembl chr 9:66,065,505...66,179,524 		JBrowse link
G Dennd4a DENN domain containing 4A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 9:64,713,408...64,826,949
Ensembl chr 9:64,718,622...64,826,949 		JBrowse link
G Det1 DET1 partner of COP1 E3 ubiquitin ligase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:78,471,293...78,497,272
Ensembl chr 7:78,471,295...78,497,011 		JBrowse link
G Dis3l DIS3 like exosome 3'-5' exoribonuclease ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 9:64,214,038...64,248,707
Ensembl chr 9:64,214,038...64,248,570 		JBrowse link
G Disp2 dispatched RND transporter family member 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 2:118,610,183...118,625,656
Ensembl chr 2:118,610,200...118,641,774 		JBrowse link
G Dll4 delta like canonical Notch ligand 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 2:119,156,286...119,166,145
Ensembl chr 2:119,156,265...119,166,443 		JBrowse link
G Dmxl2 Dmx-like 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 9:54,272,442...54,409,150
Ensembl chr 9:54,272,442...54,408,910 		JBrowse link
G Dnaaf4 dynein axonemal assembly factor 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 9:72,863,574...72,880,971
Ensembl chr 9:72,866,067...72,880,346 		JBrowse link
G Dnaja4 DnaJ heat shock protein family (Hsp40) member A4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 9:54,606,132...54,623,601
Ensembl chr 9:54,606,157...54,623,599 		JBrowse link
G Dnajc17 DnaJ heat shock protein family (Hsp40) member C17 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 2:119,002,981...119,039,342
Ensembl chr 2:119,002,981...119,039,276 		JBrowse link
G Dph6 diphthamine biosynthesis 6 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 2:114,346,897...114,485,518
Ensembl chr 2:114,346,897...114,485,445 		JBrowse link
G Dpp8 dipeptidylpeptidase 8 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 9:64,939,688...64,991,785
Ensembl chr 9:64,939,696...64,989,933 		JBrowse link
G Dtwd1 DTW domain containing 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 2:125,993,981...126,007,197
Ensembl chr 2:125,994,061...126,007,199 		JBrowse link
G Duox1 dual oxidase 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 2:122,143,525...122,178,454
Ensembl chr 2:122,146,153...122,178,453 		JBrowse link
G Duox2 dual oxidase 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 2:122,109,727...122,129,221
Ensembl chr 2:122,109,728...122,128,930 		JBrowse link
G Duoxa1 dual oxidase maturation factor 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 2:122,134,012...122,144,255
Ensembl chr 2:122,132,672...122,144,211 		JBrowse link
G Duoxa2 dual oxidase maturation factor 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 2:122,129,381...122,133,088
Ensembl chr 2:122,129,381...122,133,366 		JBrowse link
G Dut deoxyuridine triphosphatase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 2:125,089,168...125,100,969
Ensembl chr 2:125,089,110...125,100,528 		JBrowse link
G Edc3 enhancer of mRNA decapping 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 9:57,615,823...57,659,782
Ensembl chr 9:57,615,823...57,659,782 		JBrowse link
G Efl1 elongation factor like GTPase 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:82,297,811...82,427,060
Ensembl chr 7:82,297,822...82,427,060 		JBrowse link
G Ehd4 EH-domain containing 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 2:119,919,958...119,985,028
Ensembl chr 2:119,919,656...119,985,087 		JBrowse link
G Eid1 EP300 interacting inhibitor of differentiation 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 2:125,515,020...125,517,563
Ensembl chr 2:125,515,015...125,516,705 		JBrowse link
G Eif2ak4 eukaryotic translation initiation factor 2 alpha kinase 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 2:118,219,065...118,305,715
Ensembl chr 2:118,219,099...118,305,715 		JBrowse link
G Eif3j1 eukaryotic translation initiation factor 3, subunit J1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 2:121,859,061...121,884,113
Ensembl chr 2:121,859,027...121,887,079 		JBrowse link
G Ell3 elongation factor RNA polymerase II-like 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 2:121,269,508...121,273,082
Ensembl chr 2:121,269,491...121,274,759 		JBrowse link
G Emc4 ER membrane protein complex subunit 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 2:112,193,349...112,209,532
Ensembl chr 2:112,193,356...112,198,372 		JBrowse link
G Emc7 ER membrane protein complex subunit 7 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 2:112,285,332...112,302,507
Ensembl chr 2:112,285,342...112,302,507 		JBrowse link
G Epb42 erythrocyte membrane protein band 4.2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 2:120,848,372...120,867,358
Ensembl chr 2:120,848,372...120,867,553 		JBrowse link
G Etfa electron transferring flavoprotein, alpha polypeptide ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 9:55,361,720...55,419,528
Ensembl chr 9:55,361,792...55,419,527 		JBrowse link
G Exd1 exonuclease 3'-5' domain containing 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 2:119,346,986...119,378,108
Ensembl chr 2:119,346,986...119,378,108 		JBrowse link
G Fah fumarylacetoacetate hydrolase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:84,234,367...84,255,150
Ensembl chr 7:84,234,367...84,255,930 		JBrowse link
G Fam219b family with sequence similarity 219, member B ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 9:57,443,648...57,450,471
Ensembl chr 9:57,444,811...57,450,467 		JBrowse link
G Fam227b family with sequence similarity 227, member B ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 2:125,825,403...125,994,048
Ensembl chr 2:125,825,403...125,993,924 		JBrowse link
G Fam81a family with sequence similarity 81, member A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 9:69,996,586...70,049,840
Ensembl chr 9:69,995,793...70,049,842 		JBrowse link
G Fam98b family with sequence similarity 98, member B ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 2:117,080,150...117,102,021
Ensembl chr 2:117,080,220...117,102,021 		JBrowse link
G Fanci Fanconi anemia, complementation group I ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:17407155 PMID:28492532 NCBI chr 7:79,042,056...79,100,013
Ensembl chr 7:79,041,677...79,100,012 		JBrowse link
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 2:125,142,514...125,348,417
Ensembl chr 2:125,142,514...125,349,913 		JBrowse link
G Fbxl22 F-box and leucine-rich repeat protein 22 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 9:66,415,738...66,425,752
Ensembl chr 9:66,415,657...66,421,891 		JBrowse link
G Fbxo22 F-box protein 22 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 9:55,116,219...55,131,717
Ensembl chr 9:55,116,209...55,131,717 		JBrowse link
G Fem1b fem 1 homolog b ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 9:62,699,106...62,718,930
Ensembl chr 9:62,699,103...62,719,216 		JBrowse link
G Fes feline sarcoma oncogene ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:80,027,506...80,037,702
Ensembl chr 7:80,027,504...80,037,694 		JBrowse link
G Fgf7 fibroblast growth factor 7 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 2:125,876,578...125,933,105
Ensembl chr 2:125,876,578...125,933,105 		JBrowse link
G Foxb1 forkhead box B1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 9:69,664,992...69,668,222
Ensembl chr 9:69,664,992...69,668,222 		JBrowse link
G Frmd5 FERM domain containing 5 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 2:121,376,010...121,637,580
Ensembl chr 2:121,376,010...121,637,568 		JBrowse link
G Fsd2 fibronectin type III and SPRY domain containing 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:81,184,102...81,216,729
Ensembl chr 7:81,183,056...81,216,692 		JBrowse link
G Fsip1 fibrous sheath-interacting protein 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 2:117,960,742...118,087,468
Ensembl chr 2:117,960,905...118,087,447 		JBrowse link
G Furin furin, paired basic amino acid cleaving enzyme ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:80,038,942...80,055,188
Ensembl chr 7:80,038,333...80,055,184 		JBrowse link
G Gabpb1 GA repeat binding protein, beta 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 2:126,470,832...126,527,184
Ensembl chr 2:126,469,362...126,518,257 		JBrowse link
G Galk2 galactokinase 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 2:125,701,029...125,826,218
Ensembl chr 2:125,701,029...125,826,219 		JBrowse link
G Ganc glucosidase, alpha; neutral C ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 2:120,234,377...120,291,347
Ensembl chr 2:120,234,377...120,292,181 		JBrowse link
G Gatm glycine amidinotransferase (L-arginine:glycine amidinotransferase) ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 2:122,424,954...122,441,758
Ensembl chr 2:122,424,948...122,441,784 		JBrowse link
G Gchfr GTP cyclohydrolase I feedback regulator ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 2:118,998,269...119,002,870
Ensembl chr 2:118,998,254...119,002,871 		JBrowse link
G Gcnt3 glucosaminyl (N-acetyl) transferase 3, mucin type ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 9:69,938,777...69,947,172
Ensembl chr 9:69,938,778...69,945,370 		JBrowse link
G Gdpgp1 GDP-D-glucose phosphorylase 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:17407155 PMID:28492532 NCBI chr 7:79,882,641...79,891,168
Ensembl chr 7:79,882,613...79,891,809 		JBrowse link
G Gjd2 gap junction protein, delta 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 2:113,840,086...113,844,555
Ensembl chr 2:113,840,082...113,844,100 		JBrowse link
G Glce glucuronyl C5-epimerase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 9:61,964,526...62,029,891
Ensembl chr 9:61,964,530...62,029,937 		JBrowse link
G Gldn gliomedin ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 9:54,193,770...54,249,061
Ensembl chr 9:54,193,770...54,249,070 		JBrowse link
G Gm14137 predicted gene 14137 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 2:119,004,990...119,008,049
Ensembl chr 2:119,004,990...119,008,056 		JBrowse link
G Gm25064 predicted gene, 25064 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 9:63,040,565...63,040,671
Ensembl chr 9:63,040,565...63,040,671 		JBrowse link
G Gm32929 predicted gene, 32929 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532
G Gnb5 guanine nucleotide binding protein (G protein), beta 5 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 9:75,213,570...75,253,205
Ensembl chr 9:75,213,570...75,253,158 		JBrowse link
G Golm2 golgi membrane protein 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 2:121,696,255...121,766,701
Ensembl chr 2:121,697,451...121,766,701 		JBrowse link
G Gpr176 G protein-coupled receptor 176 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 2:118,107,577...118,205,022
Ensembl chr 2:118,107,591...118,203,900 		JBrowse link
G Gramd2a GRAM domain containing 2A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 9:59,587,116...59,626,156
Ensembl chr 9:59,587,427...59,626,157 		JBrowse link
G Grem1 gremlin 1, DAN family BMP antagonist ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 2:113,579,020...113,588,993
Ensembl chr 2:113,576,509...113,588,991 		JBrowse link
G Gtf2a2 general transcription factor II A, 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 9:69,919,830...69,930,148
Ensembl chr 9:69,919,832...69,930,148 		JBrowse link
G Hacd3 3-hydroxyacyl-CoA dehydratase 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 9:64,894,265...64,929,014
Ensembl chr 9:64,894,265...64,928,975 		JBrowse link
G Hapln3 hyaluronan and proteoglycan link protein 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:17407155 PMID:28492532 NCBI chr 7:78,766,775...78,783,100
Ensembl chr 7:78,764,850...78,780,766 		JBrowse link
G Haus2 HAUS augmin-like complex, subunit 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 2:120,439,863...120,452,041
Ensembl chr 2:120,439,864...120,452,041 		JBrowse link
G Hcn4 hyperpolarization-activated, cyclic nucleotide-gated K+ 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 9:58,730,232...58,770,458
Ensembl chr 9:58,730,695...58,770,458 		JBrowse link
G Hdc histidine decarboxylase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 2:126,435,579...126,465,942
Ensembl chr 2:126,435,587...126,461,219 		JBrowse link
G Hddc3 HD domain containing 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:79,992,864...80,000,479
Ensembl chr 7:79,992,852...80,000,295 		JBrowse link
G Herc1 HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 9:66,257,694...66,416,057
Ensembl chr 9:66,257,732...66,416,057 		JBrowse link
G Hexa hexosaminidase A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 9:59,446,966...59,472,392
Ensembl chr 9:59,446,823...59,472,392 		JBrowse link
G Hmg20a high mobility group 20A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 9:56,325,891...56,404,220
Ensembl chr 9:56,325,893...56,404,220 		JBrowse link
G Homer2 homer scaffolding protein 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:81,250,229...81,356,673
Ensembl chr 7:81,250,229...81,357,275 		JBrowse link
G Hykk hydroxylysine kinase 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 9:54,824,574...54,857,208
Ensembl chr 9:54,824,567...54,857,208 		JBrowse link
G Hypk huntingtin interacting protein K ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 2:121,287,569...121,288,921
Ensembl chr 2:121,283,771...121,289,153 		JBrowse link
G Ice2 interactor of little elongation complex ELL subunit 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 9:69,305,185...69,340,360
Ensembl chr 9:69,305,188...69,340,404 		JBrowse link
G Idh2 isocitrate dehydrogenase 2 (NADP+), mitochondrial ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:17407155 PMID:28492532 NCBI chr 7:79,744,594...79,768,356
Ensembl chr 7:79,744,594...79,765,140 		JBrowse link
G Idh3a isocitrate dehydrogenase 3 (NAD+) alpha ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 9:54,493,795...54,511,946
Ensembl chr 9:54,493,618...54,511,945 		JBrowse link
G Igdcc3 immunoglobulin superfamily, DCC subclass, member 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 9:65,048,404...65,094,313
Ensembl chr 9:65,048,471...65,093,154 		JBrowse link
G Igdcc4 immunoglobulin superfamily, DCC subclass, member 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 9:65,008,246...65,045,225
Ensembl chr 9:65,008,768...65,045,222 		JBrowse link
G Il16 interleukin 16 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:83,292,027...83,395,479
Ensembl chr 7:83,292,033...83,394,934 		JBrowse link
G Imp3 IMP3, U3 small nucleolar ribonucleoprotein ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 9:56,844,784...56,845,682
Ensembl chr 9:56,844,759...56,845,682 		JBrowse link
G Ino80 INO80 complex subunit ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 2:119,203,523...119,308,168
Ensembl chr 2:119,203,523...119,308,168 		JBrowse link
G Insyn1 inhibitory synaptic factor 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 9:58,395,886...58,407,063
Ensembl chr 9:58,395,886...58,407,063 		JBrowse link
G Ints14 integrator complex subunit 14 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 9:64,868,143...64,894,260
Ensembl chr 9:64,868,187...64,894,260 		JBrowse link
G Iqch IQ motif containing H ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 9:63,328,522...63,509,808
Ensembl chr 9:63,328,737...63,509,775 		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 chr 7:80,361,331...80,453,288
Ensembl chr 7:80,361,331...80,475,722 		JBrowse link
G Ireb2 iron responsive element binding protein 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 9:54,769,942...54,819,812
Ensembl chr 9:54,771,073...54,819,814 		JBrowse link
G Isg20 interferon-stimulated protein ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:78,561,136...78,570,144
Ensembl chr 7:78,563,172...78,570,144 		JBrowse link
G Isl2 insulin related protein 2 (islet 2) ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 9:55,445,961...55,454,951
Ensembl chr 9:55,445,956...55,453,464 		JBrowse link
G Islr immunoglobulin superfamily containing leucine-rich repeat ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 9:58,063,547...58,066,563
Ensembl chr 9:58,063,551...58,111,589 		JBrowse link
G Islr2 immunoglobulin superfamily containing leucine-rich repeat 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 9:58,103,580...58,113,563
Ensembl chr 9:58,103,580...58,111,602 		JBrowse link
G Itga11 integrin alpha 11 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 9:62,585,137...62,691,618
Ensembl chr 9:62,585,108...62,691,264 		JBrowse link
G Itpka inositol 1,4,5-trisphosphate 3-kinase A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 2:119,572,818...119,581,734
Ensembl chr 2:119,572,818...119,581,744 		JBrowse link
G Ivd isovaleryl coenzyme A dehydrogenase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 2:118,692,475...118,713,388
Ensembl chr 2:118,692,435...118,713,390 		JBrowse link
G Jmjd7 jumonji domain containing 7 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 2:119,857,964...119,863,085
Ensembl chr 2:119,857,964...119,863,075 		JBrowse link
G Katnbl1 katanin p80 subunit B like 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 2:112,209,556...112,244,582
Ensembl chr 2:112,209,556...112,244,585 		JBrowse link
G Kbtbd13 kelch repeat and BTB (POZ) domain containing 13 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 9:65,295,965...65,299,000
Ensembl chr 9:65,295,966...65,298,934 		JBrowse link
G Kif23 kinesin family member 23 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 9:61,824,559...61,854,078
Ensembl chr 9:61,823,187...61,854,056 		JBrowse link
G Kif7 kinesin family member 7 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:17407155 PMID:28492532 NCBI chr 7:79,347,846...79,365,520
Ensembl chr 7:79,347,846...79,365,468 		JBrowse link
G Klhl25 kelch-like 25 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:75,498,086...75,523,881
Ensembl chr 7:75,498,058...75,523,879 		JBrowse link
G Knl1 kinetochore scaffold 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 2:118,877,600...118,940,978
Ensembl chr 2:118,877,600...118,935,982 		JBrowse link
G Knstrn kinetochore-localized astrin/SPAG5 binding ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 2:118,644,470...118,667,691
Ensembl chr 2:118,644,484...118,684,438 		JBrowse link
G Lactb lactamase, beta ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 9:66,862,668...66,882,706
Ensembl chr 9:66,862,670...66,882,766 		JBrowse link
G Larp6 La ribonucleoprotein 6, translational regulator ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 9:60,620,404...60,646,084
Ensembl chr 9:60,620,272...60,646,084 		JBrowse link
G Lcmt2 leucine carboxyl methyltransferase 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 2:120,967,773...120,971,179
Ensembl chr 2:120,958,788...120,971,134 		JBrowse link
G Lctl lactase-like ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 9:64,024,399...64,045,400
Ensembl chr 9:64,024,429...64,045,400 		JBrowse link
G Ldhal6b lactate dehydrogenase A-like 6B ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr17:5,467,598...5,469,042
Ensembl chr17:5,467,598...5,469,042 		JBrowse link
G Leo1 Leo1, Paf1/RNA polymerase II complex component ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 9:75,348,072...75,373,714
Ensembl chr 9:75,348,806...75,373,714 		JBrowse link
G Lingo1 leucine rich repeat and Ig domain containing 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 9:56,525,743...56,704,355
Ensembl chr 9:56,525,759...56,703,752 		JBrowse link
G Lipc lipase, hepatic ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 9:70,705,410...70,859,503
Ensembl chr 9:70,705,410...70,859,508 		JBrowse link
G Lman1l lectin, mannose-binding 1 like ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 9:57,514,080...57,528,057
Ensembl chr 9:57,514,368...57,528,057 		JBrowse link
G Loxl1 lysyl oxidase-like 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 9:58,195,006...58,220,495
Ensembl chr 9:58,195,021...58,220,469 		JBrowse link
G Lpcat4 lysophosphatidylcholine acyltransferase 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 2:112,070,186...112,077,456
Ensembl chr 2:112,069,813...112,077,456 		JBrowse link
G Lrrc49 leucine rich repeat containing 49 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 9:60,494,507...60,595,460
Ensembl chr 9:60,476,142...60,595,441 		JBrowse link
G Lrrc57 leucine rich repeat containing 57 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 2:120,434,719...120,439,989
Ensembl chr 2:120,434,719...120,440,001 		JBrowse link
G Ltk leukocyte tyrosine kinase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 2:119,581,807...119,590,912
Ensembl chr 2:119,581,801...119,590,912 		JBrowse link
G Lysmd2 LysM, putative peptidoglycan-binding, domain containing 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 9:75,532,403...75,545,055
Ensembl chr 9:75,533,023...75,545,053 		JBrowse link
G Man2a2 mannosidase 2, alpha 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:79,998,843...80,021,222
Ensembl chr 7:79,998,845...80,021,123 		JBrowse link
G Man2c1 mannosidase, alpha, class 2C, member 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 9:57,037,953...57,049,497
Ensembl chr 9:57,037,974...57,050,006 		JBrowse link
G Map1a microtubule-associated protein 1 A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 2:121,119,608...121,141,313
Ensembl chr 2:121,120,081...121,141,313 		JBrowse link
G Map2k1 mitogen-activated protein kinase kinase 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 9:64,093,066...64,160,887
Ensembl chr 9:64,093,052...64,160,913 		JBrowse link
G Map2k5 mitogen-activated protein kinase kinase 5 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 9:63,071,050...63,288,964
Ensembl chr 9:63,071,050...63,285,184 		JBrowse link
G Mapk6 mitogen-activated protein kinase 6 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 9:75,294,064...75,317,303
Ensembl chr 9:75,276,344...75,317,287 		JBrowse link
G Mapkbp1 mitogen-activated protein kinase binding protein 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 2:119,802,868...119,857,884
Ensembl chr 2:119,803,180...119,857,889 		JBrowse link
G Megf11 multiple EGF-like-domains 11 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 9:64,291,556...64,618,584
Ensembl chr 9:64,292,908...64,616,487 		JBrowse link
G Meis2 Meis homeobox 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 2:115,691,745...115,897,925
Ensembl chr 2:115,693,545...115,896,320 		JBrowse link
G Mesd mesoderm development LRP chaperone ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:83,533,074...83,549,519
Ensembl chr 7:83,533,674...83,550,740 		JBrowse link
G Mesp1 mesoderm posterior 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:17407155 PMID:28492532 NCBI chr 7:79,441,989...79,443,338
Ensembl chr 7:79,441,989...79,443,536 		JBrowse link
G Mesp2 mesoderm posterior 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:17407155 PMID:28492532 NCBI chr 7:79,460,475...79,463,179
Ensembl chr 7:79,460,475...79,463,187 		JBrowse link
G Mex3b mex3 RNA binding family member B ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:82,516,541...82,520,784
Ensembl chr 7:82,516,541...82,520,723 		JBrowse link
G Mfap1a microfibrillar-associated protein 1A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 2:121,323,162...121,337,137
Ensembl chr 2:121,322,392...121,337,146 		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 chr 7:78,783,516...78,798,808
Ensembl chr 7:78,783,516...78,798,808 		JBrowse link
G Mga MAX gene associated ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 2:119,702,974...119,800,610
Ensembl chr 2:119,727,709...119,800,062 		JBrowse link
G Minar1 membrane integral NOTCH2 associated receptor 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 9:89,469,261...89,505,940
Ensembl chr 9:89,469,269...89,505,178 		JBrowse link
G Mindy2 MINDY lysine 48 deubiquitinase 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 9:70,506,296...70,566,429
Ensembl chr 9:70,506,296...70,564,456 		JBrowse link
G Mir1839 microRNA 1839 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:81,179,664...81,179,736
Ensembl chr 7:81,179,664...81,179,736 		JBrowse link
G Mir184 microRNA 184 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 9:89,684,313...89,684,381
Ensembl chr 9:89,684,313...89,684,381 		JBrowse link
G Mir9-3 microRNA 9-3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:17407155 PMID:28492532 NCBI chr 7:79,155,012...79,155,101
Ensembl chr 7:79,155,012...79,155,101 		JBrowse link
G Mns1 meiosis-specific nuclear structural protein 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 9:72,345,276...72,366,036
Ensembl chr 9:72,345,293...72,369,307 		JBrowse link
G Morf4l1 mortality factor 4 like 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 9:89,973,722...89,996,873
Ensembl chr 9:89,973,718...89,996,827 		JBrowse link
G Mpi mannose phosphate isomerase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 9:57,448,744...57,460,095
Ensembl chr 9:57,451,539...57,460,046 		JBrowse link
G Mrpl46 mitochondrial ribosomal protein L46 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:78,425,089...78,432,837
Ensembl chr 7:78,424,984...78,433,279 		JBrowse link
G Mrps11 mitochondrial ribosomal protein S11 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:78,432,879...78,442,736
Ensembl chr 7:78,432,867...78,442,737 		JBrowse link
G Mtfmt mitochondrial methionyl-tRNA formyltransferase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 9:65,343,064...65,360,336
Ensembl chr 9:65,343,064...65,360,336 		JBrowse link
G Mthfs 5, 10-methenyltetrahydrofolate synthetase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 9:89,093,243...89,122,278
Ensembl chr 9:89,092,729...89,259,766 		JBrowse link
G Mthfsl 5, 10-methenyltetrahydrofolate synthetase-like ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 9:88,567,696...88,602,381
Ensembl chr 9:88,570,655...88,602,349 		JBrowse link
G Myef2 myelin basic protein expression factor 2, repressor ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 2:124,922,894...124,966,727
Ensembl chr 2:124,926,548...124,965,581 		JBrowse link
G Myo1e myosin IE ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 9:70,114,632...70,307,349
Ensembl chr 9:70,114,632...70,307,048 		JBrowse link
G Myo5a myosin VA ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 9:74,975,183...75,130,970
Ensembl chr 9:74,978,297...75,130,970 		JBrowse link
G Myo5c myosin VC ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 9:75,139,252...75,212,733
Ensembl chr 9:75,139,302...75,212,733 		JBrowse link
G Myo9a myosin IXa ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 9:59,658,128...59,836,149
Ensembl chr 9:59,658,179...59,836,149 		JBrowse link
G Myzap myocardial zonula adherens protein ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 9:71,411,629...71,499,642
Ensembl chr 9:71,411,629...71,499,642 		JBrowse link
G Ndufaf1 NADH:ubiquinone oxidoreductase complex assembly factor 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 2:119,485,927...119,493,302
Ensembl chr 2:119,485,927...119,493,308 		JBrowse link
G Nedd4 neural precursor cell expressed, developmentally down-regulated 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 9:72,569,613...72,657,133
Ensembl chr 9:72,569,628...72,657,134 		JBrowse link
G Neil1 nei endonuclease VIII-like 1 (E. coli) ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 9:57,050,072...57,055,973
Ensembl chr 9:57,050,084...57,055,589 		JBrowse link
G Neo1 neogenin ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 9:58,781,962...58,943,926
Ensembl chr 9:58,781,970...58,943,724 		JBrowse link
G Ngrn neugrin, neurite outgrowth associated ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:17407155 PMID:28492532 NCBI chr 7:79,910,963...79,915,126
Ensembl chr 7:79,910,963...79,915,122 		JBrowse link
G Nmb neuromedin B ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:80,551,975...80,554,810
Ensembl chr 7:80,551,975...80,554,824 		JBrowse link
G Nop10 NOP10 ribonucleoprotein ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 2:112,092,271...112,093,243
Ensembl chr 2:112,092,271...112,093,614 		JBrowse link
G Nptn neuroplastin ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 9:58,489,504...58,560,162
Ensembl chr 9:58,489,523...58,565,238 		JBrowse link
G Nr2e3 nuclear receptor subfamily 2, group E, member 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 9:59,850,054...59,868,117
Ensembl chr 9:59,850,054...59,867,942 		JBrowse link
G Nrg4 neuregulin 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 9:55,127,506...55,190,937
Ensembl chr 9:55,127,506...55,234,128 		JBrowse link
G Nsmce2 NSE2/MMS21 homolog, SMC5-SMC6 complex SUMO ligase IAGP OMIM:210900 MouseDO NCBI chr15:59,246,047...59,473,538
Ensembl chr15:59,246,096...59,473,533 		JBrowse link
G Ntrk3 neurotrophic tyrosine kinase, receptor, type 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:77,825,711...78,228,865
Ensembl chr 7:77,825,707...78,387,760 		JBrowse link
G Nusap1 nucleolar and spindle associated protein 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 2:119,449,205...119,480,646
Ensembl chr 2:119,448,779...119,481,725 		JBrowse link
G Nutm1 NUT midline carcinoma, family member 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 2:112,078,293...112,089,636
Ensembl chr 2:112,078,293...112,089,636 		JBrowse link
G Oaz2 ornithine decarboxylase antizyme 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 9:65,583,830...65,597,582
Ensembl chr 9:65,575,283...65,597,582 		JBrowse link
G Oip5 Opa interacting protein 5 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 2:119,440,013...119,448,986
Ensembl chr 2:119,439,993...119,448,950 		JBrowse link
G Onecut1 one cut domain, family member 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 9:74,769,203...74,796,930
Ensembl chr 9:74,769,203...74,799,063 		JBrowse link
G Pak6 p21 (RAC1) activated kinase 6 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 2:118,493,531...118,528,501
Ensembl chr 2:118,493,784...118,528,501 		JBrowse link
G Paqr5 progestin and adipoQ receptor family member V ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 9:61,861,020...61,934,085
Ensembl chr 9:61,860,763...61,934,138 		JBrowse link
G Parp16 poly (ADP-ribose) polymerase family, member 16 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 9:65,121,918...65,146,502
Ensembl chr 9:65,102,635...65,146,506 		JBrowse link
G Parp6 poly (ADP-ribose) polymerase family, member 6 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 9:59,524,473...59,557,573
Ensembl chr 9:59,524,567...59,557,568 		JBrowse link
G Patl2 protein associated with topoisomerase II homolog 2 (yeast) ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 2:121,950,589...122,016,670
Ensembl chr 2:121,950,589...122,016,670 		JBrowse link
G Pclaf PCNA clamp associated factor ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 9:65,797,605...65,810,833
Ensembl chr 9:65,797,519...65,810,548 		JBrowse link
G Pdcd7 programmed cell death 7 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 9:65,253,350...65,266,925
Ensembl chr 9:65,253,386...65,266,925 		JBrowse link
G Pde8a phosphodiesterase 8A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:80,863,013...80,984,283
Ensembl chr 7:80,863,344...80,984,281 		JBrowse link
G Pdia3 protein disulfide isomerase associated 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 2:121,244,383...121,269,168
Ensembl chr 2:121,244,256...121,269,168 		JBrowse link
G Peak1 pseudopodium-enriched atypical kinase 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 9:56,108,410...56,325,972
Ensembl chr 9:56,108,410...56,325,351 		JBrowse link
G Pex11a peroxisomal biogenesis factor 11 alpha ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:17407155 PMID:28492532 NCBI chr 7:79,385,705...79,392,879
Ensembl chr 7:79,385,705...79,392,879 		JBrowse link
G Phgr1 proline/histidine/glycine-rich 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 2:118,603,255...118,608,646
Ensembl chr 2:118,603,250...118,608,646 		JBrowse link
G Pias1 protein inhibitor of activated STAT 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 9:62,785,648...62,888,161
Ensembl chr 9:62,785,650...62,895,206 		JBrowse link
G Pierce2 piercer of microtubule wall 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 9:72,886,999...72,892,658
Ensembl chr 9:72,886,964...72,892,674 		JBrowse link
G Pif1 PIF1 5'-to-3' DNA helicase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 9:65,494,432...65,503,249
Ensembl chr 9:65,494,442...65,503,249 		JBrowse link
G Pigb phosphatidylinositol glycan anchor biosynthesis, class B ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 9:72,920,639...72,946,973
Ensembl chr 9:72,914,701...72,947,660 		JBrowse link
G Pkm pyruvate kinase, muscle ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 9:59,563,859...59,586,655
Ensembl chr 9:59,563,651...59,586,658 		JBrowse link
G Pla2g4d phospholipase A2, group IVD ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 2:120,096,347...120,119,678
Ensembl chr 2:120,096,076...120,119,678 		JBrowse link
G Pla2g4e phospholipase A2, group IVE ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 2:119,996,893...120,075,816
Ensembl chr 2:119,996,893...120,075,816 		JBrowse link
G Pla2g4f phospholipase A2, group IVF ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 2:120,130,433...120,144,646
Ensembl chr 2:120,130,438...120,144,646 		JBrowse link
G Plcb2 phospholipase C, beta 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 2:118,535,484...118,559,140
Ensembl chr 2:118,537,998...118,558,919 		JBrowse link
G Plekho2 pleckstrin homology domain containing, family O member 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 9:65,459,859...65,487,369
Ensembl chr 9:65,459,980...65,487,322 		JBrowse link
G Plin1 perilipin 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:17407155 PMID:28492532 NCBI chr 7:79,370,912...79,382,652
Ensembl chr 7:79,369,966...79,382,651 		JBrowse link
G Pml promyelocytic leukemia ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 9:58,125,359...58,157,077
Ensembl chr 9:58,125,359...58,157,069 		JBrowse link
G Polg polymerase (DNA directed), gamma ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:17407155 PMID:28492532 NCBI chr 7:79,095,979...79,117,659
Ensembl chr 7:79,095,979...79,116,110 		JBrowse link
G Polr2m polymerase (RNA) II (DNA directed) polypeptide M ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 9:71,385,719...71,393,265
Ensembl chr 9:71,385,719...71,393,217 		JBrowse link
G Ppcdc phosphopantothenoylcysteine decarboxylase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 9:57,292,378...57,347,440
Ensembl chr 9:57,292,378...57,347,407 		JBrowse link
G Ppib peptidylprolyl isomerase B ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 9:65,967,451...65,973,911
Ensembl chr 9:65,967,504...65,973,905 		JBrowse link
G Ppip5k1 diphosphoinositol pentakisphosphate kinase 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 2:121,141,038...121,186,138
Ensembl chr 2:121,141,042...121,185,877 		JBrowse link
G Ppp1r14d protein phosphatase 1, regulatory inhibitor subunit 14D ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 2:119,048,600...119,060,557
Ensembl chr 2:119,048,600...119,060,387 		JBrowse link
G Prc1 protein regulator of cytokinesis 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:79,944,224...79,966,007
Ensembl chr 7:79,944,198...79,966,007 		JBrowse link
G Prtg protogenin ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 9:72,714,556...72,824,589
Ensembl chr 9:72,714,156...72,824,573 		JBrowse link
G Psma4 proteasome subunit alpha 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 9:54,858,074...54,865,316
Ensembl chr 9:54,858,074...54,865,314 		JBrowse link
G Pstpip1 proline-serine-threonine phosphatase-interacting protein 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 9:55,985,729...56,036,174
Ensembl chr 9:55,997,246...56,036,172 		JBrowse link
G Ptpn9 protein tyrosine phosphatase, non-receptor type 9 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 9:56,902,252...56,970,092
Ensembl chr 9:56,902,207...56,970,091 		JBrowse link
G Pygo1 pygopus 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 9:72,832,927...72,859,868
Ensembl chr 9:72,832,927...72,859,463 		JBrowse link
G Rab11a RAB11A, member RAS oncogene family ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 9:64,622,582...64,645,038
Ensembl chr 9:64,622,581...64,645,040 		JBrowse link
G Rab27a RAB27A, member RAS oncogene family ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 9:72,952,092...73,004,905
Ensembl chr 9:72,952,136...73,004,911 		JBrowse link
G Rab8b RAB8B, member RAS oncogene family ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 9:66,750,891...66,826,987
Ensembl chr 9:66,750,946...66,826,969 		JBrowse link
G Rad51 RAD51 recombinase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 2:118,943,295...118,966,554
Ensembl chr 2:118,943,274...118,977,926 		JBrowse link
G Ramac RNA guanine-7 methyltransferase activating subunit ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:81,412,701...81,419,238
Ensembl chr 7:81,412,673...81,419,239 		JBrowse link
G Rasgrf1 RAS protein-specific guanine nucleotide-releasing factor 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 9:89,791,565...89,909,032
Ensembl chr 9:89,791,961...89,909,030 		JBrowse link
G Rasgrp1 RAS guanyl releasing protein 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 2:117,110,464...117,173,358
Ensembl chr 2:117,110,474...117,173,482 		JBrowse link
G Rasl12 RAS-like, family 12 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 9:65,305,766...65,323,420
Ensembl chr 9:65,305,788...65,322,135 		JBrowse link
G Rbpms2 RNA binding protein with multiple splicing 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 9:65,536,638...65,567,818
Ensembl chr 9:65,536,930...65,567,810 		JBrowse link
G Rccd1 RCC1 domain containing 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:79,944,339...79,974,512
Ensembl chr 7:79,942,977...79,974,202 		JBrowse link
G Rcn2 reticulocalbin 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 9:55,949,129...55,966,367
Ensembl chr 9:55,949,129...55,969,166 		JBrowse link
G Rec114 REC114 meiotic recombination protein ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 9:58,560,139...58,729,684
Ensembl chr 9:58,560,133...58,651,247 		JBrowse link
G Rfx7 regulatory factor X, 7 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 9:72,439,346...72,530,231
Ensembl chr 9:72,439,522...72,530,111 		JBrowse link
G Rhcg Rhesus blood group-associated C glycoprotein ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:17407155 PMID:28492532 NCBI chr 7:79,243,111...79,267,405
Ensembl chr 7:79,243,111...79,267,405 		JBrowse link
G Rhov ras homolog family member V ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 2:119,099,682...119,108,489
Ensembl chr 2:119,099,682...119,101,753 		JBrowse link
G Rlbp1 retinaldehyde binding protein 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:17407155 PMID:28492532 NCBI chr 7:79,024,613...79,041,989
Ensembl chr 7:79,024,618...79,036,796 		JBrowse link
G Rmdn3 regulator of microtubule dynamics 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 2:118,967,479...118,987,515
Ensembl chr 2:118,967,482...118,987,515 		JBrowse link
G Rnf111 ring finger 111 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 9:70,332,706...70,411,122
Ensembl chr 9:70,332,706...70,411,007 		JBrowse link
G Rora RAR-related orphan receptor alpha ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 9:68,560,627...69,295,528
Ensembl chr 9:68,561,068...69,295,528 		JBrowse link
G Rpap1 RNA polymerase II associated protein 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 2:119,594,440...119,618,018
Ensembl chr 2:119,593,785...119,618,018 		JBrowse link
G Rpl4 ribosomal protein L4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 9:64,080,159...64,085,805
Ensembl chr 9:64,080,657...64,085,948 		JBrowse link
G Rplp1 ribosomal protein lateral stalk subunit P1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 9:61,820,565...61,821,792
Ensembl chr 9:61,820,566...61,821,824 		JBrowse link
G Rpp25 ribonuclease P/MRP 25 subunit ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 9:57,411,385...57,412,730
Ensembl chr 9:57,411,309...57,412,731 		JBrowse link
G Rps17 ribosomal protein S17 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:80,992,481...80,994,982
Ensembl chr 7:80,992,480...80,995,002 		JBrowse link
G Rps27l ribosomal protein S27-like ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 9:66,851,906...66,856,804
Ensembl chr 9:66,853,368...66,856,798 		JBrowse link
G Rpusd2 RNA pseudouridylate synthase domain containing 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 2:118,865,271...118,872,679
Ensembl chr 2:118,865,271...118,870,250 		JBrowse link
G Rsl24d1 ribosomal L24 domain containing 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 9:73,020,751...73,030,615
Ensembl chr 9:73,020,708...73,030,615 		JBrowse link
G Rtf1 RTF1, Paf1/RNA polymerase II complex component ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 2:119,505,549...119,565,888
Ensembl chr 2:119,505,549...119,565,888 		JBrowse link
G Ryr3 ryanodine receptor 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 2:112,461,699...113,047,755
Ensembl chr 2:112,461,700...113,047,441 		JBrowse link
G Saxo2 stabilizer of axonemal microtubules 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:82,282,166...82,297,777
Ensembl chr 7:82,282,168...82,297,736 		JBrowse link
G Scamp2 secretory carrier membrane protein 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 9:57,468,227...57,496,081
Ensembl chr 9:57,468,226...57,496,078 		JBrowse link
G Scamp5 secretory carrier membrane protein 5 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 9:57,348,610...57,375,343
Ensembl chr 9:57,348,610...57,375,343 		JBrowse link
G Scaper S phase cyclin A-associated protein in the ER ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 9:55,457,163...55,845,505
Ensembl chr 9:55,457,163...55,845,403 		JBrowse link
G Scg3 secretogranin III ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 9:75,550,648...75,591,733
Ensembl chr 9:75,550,471...75,591,338 		JBrowse link
G Scg5 secretogranin V ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 2:113,606,708...113,659,423
Ensembl chr 2:113,606,707...113,659,466 		JBrowse link
G Sec11a SEC11 homolog A, signal peptidase complex subunit ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:80,565,125...80,597,295
Ensembl chr 7:80,554,637...80,597,528 		JBrowse link
G Secisbp2l SECIS binding protein 2-like ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 2:125,578,906...125,624,790
Ensembl chr 2:125,578,906...125,624,790 		JBrowse link
G Sema4b sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4B ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:17407155 PMID:28492532 NCBI chr 7:79,836,618...79,876,394
Ensembl chr 7:79,836,589...79,876,275 		JBrowse link
G Sema6d sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 2:123,931,089...124,509,711
Ensembl chr 2:123,931,889...124,509,690 		JBrowse link
G Sema7a sema domain, immunoglobulin domain (Ig), and GPI membrane anchor, (semaphorin) 7A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 9:57,846,879...57,870,148
Ensembl chr 9:57,847,395...57,870,148 		JBrowse link
G Senp8 SUMO peptidase family member, NEDD8 specific ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 9:59,641,542...59,657,932
Ensembl chr 9:59,641,542...59,657,993 		JBrowse link
G Serf2 small EDRK-rich factor 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 2:121,279,679...121,283,901
Ensembl chr 2:121,279,676...121,288,794 		JBrowse link
G Serinc4 serine incorporator 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 2:121,281,658...121,287,245
Ensembl chr 2:121,269,540...121,287,262 		JBrowse link
G Sh2d7 SH2 domain containing 7 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 9:54,441,407...54,452,314
Ensembl chr 9:54,441,430...54,452,304 		JBrowse link
G Sh3gl3 SH3-domain GRB2-like 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:81,824,581...81,956,618
Ensembl chr 7:81,823,588...81,956,627 		JBrowse link
G Shc4 SHC (Src homology 2 domain containing) family, member 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 2:125,469,359...125,566,085
Ensembl chr 2:125,469,367...125,566,068 		JBrowse link
G Shf Src homology 2 domain containing F ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 2:122,179,373...122,199,650
Ensembl chr 2:122,179,373...122,199,643 		JBrowse link
G Sin3a transcriptional regulator, SIN3A (yeast) ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 9:56,979,271...57,035,652
Ensembl chr 9:56,979,324...57,035,650 		JBrowse link
G Skic8 SKI8 subunit of superkiller complex ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 9:54,624,437...54,641,833
Ensembl chr 9:54,622,019...54,641,803 		JBrowse link
G Skor1 SKI family transcriptional corepressor 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 9:63,045,446...63,056,243
Ensembl chr 9:63,045,452...63,056,243 		JBrowse link
G Slc12a1 solute carrier family 12, member 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 2:124,994,430...125,071,922
Ensembl chr 2:124,994,425...125,071,922 		JBrowse link
G Slc12a6 solute carrier family 12, member 6 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 2:112,096,659...112,193,508
Ensembl chr 2:112,096,170...112,193,508 		JBrowse link
G Slc24a1 solute carrier family 24 (sodium/potassium/calcium exchanger), member 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 9:64,830,143...64,858,902
Ensembl chr 9:64,830,143...64,858,889 		JBrowse link
G Slc24a5 solute carrier family 24, member 5 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 2:124,910,076...124,930,316
Ensembl chr 2:124,910,044...124,930,597 		JBrowse link
G Slc27a2 solute carrier family 27 (fatty acid transporter), member 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 2:126,394,944...126,430,163
Ensembl chr 2:126,394,327...126,430,163 		JBrowse link
G Slc28a1 solute carrier family 28 (sodium-coupled nucleoside transporter), member 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:80,763,017...80,820,164
Ensembl chr 7:80,764,547...80,820,164 		JBrowse link
G Slc28a2 solute carrier family 28 (sodium-coupled nucleoside transporter), member 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 2:122,256,836...122,291,633
Ensembl chr 2:122,256,958...122,291,618 		JBrowse link
G Slc30a4 solute carrier family 30 (zinc transporter), member 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 2:122,523,153...122,544,583
Ensembl chr 2:122,523,153...122,544,583 		JBrowse link
G Slc51b solute carrier family 51, beta subunit ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 9:65,320,035...65,330,055
Ensembl chr 9:65,319,996...65,330,237 		JBrowse link
G Sltm SAFB-like, transcription modulator ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 9:70,449,717...70,499,519
Ensembl chr 9:70,450,036...70,499,516 		JBrowse link
G Smad3 SMAD family member 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 9:63,554,048...63,665,276
Ensembl chr 9:63,554,049...63,665,276 		JBrowse link
G Smad6 SMAD family member 6 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 9:63,860,358...63,929,374
Ensembl chr 9:63,860,358...63,929,341 		JBrowse link
G Snap23 synaptosomal-associated protein 23 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 2:120,398,137...120,436,829
Ensembl chr 2:120,398,152...120,431,736 		JBrowse link
G Snapc5 small nuclear RNA activating complex, polypeptide 5 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 9:64,086,066...64,089,972
Ensembl chr 9:64,086,556...64,090,414 		JBrowse link
G Snupn snurportin 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 9:56,855,158...56,893,545
Ensembl chr 9:56,858,162...56,890,490 		JBrowse link
G Snx1 sorting nexin 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 9:65,995,409...66,032,168
Ensembl chr 9:65,995,415...66,033,869 		JBrowse link
G Snx22 sorting nexin 22 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 9:65,972,456...65,977,041
Ensembl chr 9:65,972,458...65,977,001 		JBrowse link
G Snx33 sorting nexin 33 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 9:56,824,472...56,835,726
Ensembl chr 9:56,824,477...56,835,655 		JBrowse link
G Sord sorbitol dehydrogenase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 2:122,065,320...122,095,818
Ensembl chr 2:122,065,230...122,095,821 		JBrowse link
G Spesp1 sperm equatorial segment protein 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 9:62,178,011...62,189,461
Ensembl chr 9:62,178,011...62,189,490 		JBrowse link
G Spg11 SPG11, spatacsin vesicle trafficking associated ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 2:121,884,001...121,949,915
Ensembl chr 2:121,884,001...121,948,867 		JBrowse link
G Spg21 SPG21, maspardin ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 9:65,360,571...65,395,753
Ensembl chr 9:65,368,229...65,395,752 		JBrowse link
G Spint1 serine protease inhibitor, Kunitz type 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 2:119,067,841...119,079,995
Ensembl chr 2:119,067,843...119,080,008 		JBrowse link
G Sppl2a signal peptide peptidase like 2A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 2:126,732,311...126,775,706
Ensembl chr 2:126,732,311...126,775,155 		JBrowse link
G Spred1 sprouty protein with EVH-1 domain 1, related sequence ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 2:116,951,576...117,012,760
Ensembl chr 2:116,951,855...117,012,760 		JBrowse link
G Sptbn5 spectrin beta, non-erythrocytic 5 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 2:119,871,974...119,919,394
Ensembl chr 2:119,871,974...119,916,159 		JBrowse link
G Sqor sulfide quinone oxidoreductase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 2:122,607,249...122,651,473
Ensembl chr 2:122,607,157...122,651,489 		JBrowse link
G Srp14 signal recognition particle 14 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 2:118,306,324...118,310,177
Ensembl chr 2:118,306,331...118,310,192 		JBrowse link
G Stard5 StAR related lipid transfer domain containing 5 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:83,281,225...83,291,536
Ensembl chr 7:83,281,167...83,302,335 		JBrowse link
G Stard9 StAR related lipid transfer domain containing 9 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 2:120,459,567...120,562,371
Ensembl chr 2:120,459,602...120,562,376 		JBrowse link
G Stoml1 stomatin-like 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 9:58,160,443...58,169,807
Ensembl chr 9:58,160,447...58,169,803 		JBrowse link
G Stra6 stimulated by retinoic acid gene 6 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 9:57,971,076...58,061,287
Ensembl chr 9:57,971,071...58,061,279 		JBrowse link
G Strc stereocilin ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 2:121,193,729...121,211,851
Ensembl chr 2:121,194,209...121,217,649 		JBrowse link
G Tbc1d21 TBC1 domain family, member 21 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 9:58,266,999...58,277,762
Ensembl chr 9:58,266,987...58,277,738 		JBrowse link
G Tbc1d2b TBC1 domain family, member 2B ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 9:90,084,100...90,152,861
Ensembl chr 9:90,084,080...90,152,857 		JBrowse link
G Tcf12 transcription factor 12 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 9:71,751,534...72,019,611
Ensembl chr 9:71,749,970...72,019,153 		JBrowse link
G Terb2 telomere repeat binding bouquet formation protein 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 2:122,016,753...122,036,874
Ensembl chr 2:122,016,753...122,036,878 		JBrowse link
G Tex9 testis expressed gene 9 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 9:72,365,337...72,418,226
Ensembl chr 9:72,357,676...72,399,494 		JBrowse link
G Tgm5 transglutaminase 5 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 2:120,876,591...120,916,322
Ensembl chr 2:120,876,592...120,916,322 		JBrowse link
G Tgm7 transglutaminase 7 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 2:120,923,979...120,946,877
Ensembl chr 2:120,924,046...120,946,877 		JBrowse link
G Thbs1 thrombospondin 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 2:117,942,357...117,957,614
Ensembl chr 2:117,942,357...117,957,614 		JBrowse link
G Thsd4 thrombospondin, type I, domain containing 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 9:59,874,214...60,429,394
Ensembl chr 9:59,874,214...60,429,329 		JBrowse link
G Ticrr TOPBP1-interacting checkpoint and replication regulator ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:17407155 PMID:28492532 NCBI chr 7:79,309,944...79,347,896
Ensembl chr 7:79,309,944...79,347,896 		JBrowse link
G Tipin timeless interacting protein ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 9:64,188,776...64,212,704
Ensembl chr 9:64,188,863...64,212,706 		JBrowse link
G Tle3 transducin-like enhancer of split 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 9:61,279,608...61,325,779
Ensembl chr 9:61,279,665...61,325,772 		JBrowse link
G Tln2 talin 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 9:67,124,371...67,541,357
Ensembl chr 9:67,124,369...67,466,985 		JBrowse link
G Tlnrd1 talin rod domain containing 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:83,529,703...83,533,549
Ensembl chr 7:83,529,081...83,533,513 		JBrowse link
G Tm6sf1 transmembrane 6 superfamily member 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:81,507,810...81,533,827
Ensembl chr 7:81,508,749...81,534,182 		JBrowse link
G Tmc3 transmembrane channel-like gene family 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:83,234,112...83,276,060
Ensembl chr 7:83,234,135...83,274,822 		JBrowse link
G Tmco5 transmembrane and coiled-coil domains 5 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 2:116,709,174...116,722,987
Ensembl chr 2:116,709,172...116,722,975 		JBrowse link
G Tmed3 transmembrane p24 trafficking protein 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 9:89,581,256...89,587,096
Ensembl chr 9:89,581,259...89,587,121 		JBrowse link
G Tmem202 transmembrane protein 202 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 9:59,425,954...59,447,134
Ensembl chr 9:59,425,968...59,447,130 		JBrowse link
G Tmem266 transmembrane protein 266 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 9:55,234,194...55,345,629
Ensembl chr 9:55,234,197...55,345,629 		JBrowse link
G Tmem62 transmembrane protein 62 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 2:120,806,959...120,838,333
Ensembl chr 2:120,807,498...120,838,333 		JBrowse link
G Tmem87a transmembrane protein 87A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 2:120,185,790...120,234,597
Ensembl chr 2:120,185,793...120,234,594 		JBrowse link
G Tmod2 tropomodulin 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 9:75,472,903...75,518,620
Ensembl chr 9:75,472,903...75,518,607 		JBrowse link
G Tmod3 tropomodulin 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 9:75,405,066...75,466,939
Ensembl chr 9:75,404,989...75,466,939 		JBrowse link
G Tnfaip8l3 tumor necrosis factor, alpha-induced protein 8-like 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 9:53,932,890...53,975,695
Ensembl chr 9:53,930,689...53,975,672 		JBrowse link
G Tpm1 tropomyosin 1, alpha ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 9:66,929,872...66,956,954
Ensembl chr 9:66,929,872...66,956,688 		JBrowse link
G Trim69 tripartite motif-containing 69 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 2:121,991,189...122,009,503
Ensembl chr 2:121,991,181...122,009,508 		JBrowse link
G Trip4 thyroid hormone receptor interactor 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 9:65,736,208...65,816,150
Ensembl chr 9:65,736,212...65,816,076 		JBrowse link
G Trp53bp1 transformation related protein 53 binding protein 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 2:121,025,316...121,126,830
Ensembl chr 2:121,023,762...121,101,888 		JBrowse link
G Trpm7 transient receptor potential cation channel, subfamily M, member 7 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 2:126,633,478...126,718,181
Ensembl chr 2:126,633,485...126,718,150 		JBrowse link
G Tspan3 tetraspanin 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 9:56,043,168...56,068,354
Ensembl chr 9:56,039,009...56,072,761 		JBrowse link
G Ttbk2 tau tubulin kinase 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 2:120,563,297...120,681,111
Ensembl chr 2:120,563,297...120,681,085 		JBrowse link
G Tubgcp4 tubulin, gamma complex component 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 2:121,001,124...121,029,251
Ensembl chr 2:121,001,135...121,029,251 		JBrowse link
G Tyro3 TYRO3 protein tyrosine kinase 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 2:119,628,123...119,648,585
Ensembl chr 2:119,628,214...119,648,585 		JBrowse link
G Uaca uveal autoantigen with coiled-coil domains and ankyrin repeats ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 9:60,700,488...60,787,713
Ensembl chr 9:60,701,824...60,787,652 		JBrowse link
G Ubap1l ubiquitin-associated protein 1-like ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 9:65,268,311...65,287,659
Ensembl chr 9:65,268,323...65,287,659 		JBrowse link
G Ube2q2 ubiquitin-conjugating enzyme E2Q family member 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 9:55,056,602...55,114,813
Ensembl chr 9:55,056,138...55,114,813 		JBrowse link
G Ubl7 ubiquitin-like 7 (bone marrow stromal cell-derived) ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 9:57,818,280...57,837,624
Ensembl chr 9:57,818,262...57,837,251 		JBrowse link
G Ubr1 ubiquitin protein ligase E3 component n-recognin 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 2:120,690,753...120,801,246
Ensembl chr 2:120,690,750...120,801,196 		JBrowse link
G Ulk3 unc-51-like kinase 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 9:57,496,423...57,503,516
Ensembl chr 9:57,496,735...57,503,516 		JBrowse link
G Unc13c unc-13 homolog C ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 9:73,386,704...73,915,421
Ensembl chr 9:73,386,704...73,876,248 		JBrowse link
G Unc45a unc-45 myosin chaperone A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:79,975,040...79,990,748
Ensembl chr 7:79,975,040...79,997,741 		JBrowse link
G Ung uracil DNA glycosylase ISO CTD Direct Evidence: marker/mechanism CTD PMID:2106500 NCBI chr 5:114,268,427...114,277,382
Ensembl chr 5:114,268,447...114,277,384 		JBrowse link
G Usp3 ubiquitin specific peptidase 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 9:66,421,573...66,501,996
Ensembl chr 9:66,421,919...66,500,424 		JBrowse link
G Usp50 ubiquitin specific peptidase 50 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 2:126,602,970...126,625,380
Ensembl chr 2:126,551,016...126,625,390 		JBrowse link
G Usp8 ubiquitin specific peptidase 8 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 2:126,549,280...126,601,234
Ensembl chr 2:126,549,248...126,601,217 		JBrowse link
G Vps13c vacuolar protein sorting 13C ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 9:67,747,594...67,905,026
Ensembl chr 9:67,747,678...67,902,920 		JBrowse link
G Vps18 VPS18 CORVET/HOPS core subunit ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 2:119,119,220...119,128,934
Ensembl chr 2:119,119,221...119,128,934 		JBrowse link
G Vps39 VPS39 HOPS complex subunit ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 2:120,146,942...120,183,618
Ensembl chr 2:120,146,942...120,183,618 		JBrowse link
G Wdr72 WD repeat domain 72 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 9:74,017,608...74,190,485
Ensembl chr 9:74,017,638...74,190,590 		JBrowse link
G Wdr73 WD repeat domain 73 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:80,540,471...80,551,017
Ensembl chr 7:80,540,471...80,551,017 		JBrowse link
G Wdr76 WD repeat domain 76 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 2:121,337,204...121,375,341
Ensembl chr 2:121,337,204...121,375,341 		JBrowse link
G Wdr93 WD repeat domain 93 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:17407155 PMID:28492532 NCBI chr 7:79,392,897...79,435,700
Ensembl chr 7:79,392,911...79,435,698 		JBrowse link
G Whamm WAS protein homolog associated with actin, golgi membranes and microtubules ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:81,220,403...81,246,585
Ensembl chr 7:81,221,014...81,246,584 		JBrowse link
G Zfand6 zinc finger, AN1-type domain 6 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:84,264,253...84,339,224
Ensembl chr 7:84,262,974...84,339,167 		JBrowse link
G Zfp106 zinc finger protein 106 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 2:120,337,303...120,394,345
Ensembl chr 2:120,337,301...120,394,324 		JBrowse link
G Zfp280d zinc finger protein 280D ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 9:72,181,900...72,271,061
Ensembl chr 9:72,182,142...72,271,059 		JBrowse link
G Zfp592 zinc finger protein 592 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:80,643,432...80,694,912
Ensembl chr 7:80,643,429...80,694,912 		JBrowse link
G Zfp609 zinc finger protein 609 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 9:65,598,860...65,735,004
Ensembl chr 9:65,599,673...65,734,846 		JBrowse link
G Zfp710 zinc finger protein 710 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:17407155 PMID:28492532 NCBI chr 7:79,674,581...79,742,498
Ensembl chr 7:79,674,562...79,743,921 		JBrowse link
G Zfp770 zinc finger protein 770 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 2:114,023,937...114,031,945
Ensembl chr 2:114,023,942...114,031,950 		JBrowse link
G Zfyve19 zinc finger, FYVE domain containing 19 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 2:119,039,088...119,047,531
Ensembl chr 2:119,039,098...119,047,530 		JBrowse link
G Zscan2 zinc finger and SCAN domain containing 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:80,510,485...80,539,740
Ensembl chr 7:80,510,668...80,526,285 		JBrowse link
G Zscan29 zinc finger SCAN domains 29 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 2:120,988,754...121,001,623
Ensembl chr 2:120,988,754...121,001,606 		JBrowse link
G Zwilch zwilch kinetochore protein ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 9:64,044,426...64,080,210
Ensembl chr 9:64,044,426...64,080,386 		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 ISO ClinVar Annotator: match by term: Porencephaly 2 ClinVar NCBI chr 8:11,248,423...11,362,889
Ensembl chr 8:11,248,423...11,362,826 		JBrowse link
G Col4a2 collagen, type IV, alpha 2 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 chr 8:11,362,878...11,499,287
Ensembl chr 8:11,362,805...11,499,287 		JBrowse link
G Gm32234 predicted gene, 32234 ISO ClinVar Annotator: match by term: COL4A2-related disorder | ClinVar Annotator: match by term: Porencephaly 2 ClinVar PMID:16199547 PMID:22209246 PMID:22209247 PMID:22333902 PMID:24001601 More... NCBI chr10:40,330,078...40,342,623 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 chr 2:118,848,260...118,859,887
Ensembl chr 2:118,848,260...118,859,874 		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 chr  X:55,939,594...56,025,719
Ensembl chr  X:55,915,523...56,046,918 		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 chr  X:56,276,845...56,384,119
Ensembl chr  X:56,276,845...56,384,089 		JBrowse link
G Brs3 bombesin-like receptor 3 ISO ClinVar Annotator: match by term: Christianson syndrome ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chr  X:56,088,434...56,094,118
Ensembl chr  X:56,088,434...56,094,118 		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 chr  X:56,257,448...56,269,402
Ensembl chr  X:56,257,503...56,269,402 		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 chr  X:159,567,241...159,777,673
Ensembl chr  X:159,554,919...159,777,700 		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 chr  X:55,776,569...55,838,704
Ensembl chr  X:55,777,147...55,838,706 		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 chr  X:56,542,028...56,549,117
Ensembl chr  X:56,542,028...56,549,117 		JBrowse link
G Hivep2 human immunodeficiency virus type I enhancer binding protein 2 ISO ClinVar Annotator: match by term: Angelman syndrome-like ClinVar PMID:25741868 NCBI chr10:13,841,819...14,027,122
Ensembl chr10:13,841,819...14,027,118 		JBrowse link
G Htatsf1 HIV 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 chr  X:56,098,930...56,112,543
Ensembl chr  X:56,098,943...56,112,543 		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 chr  X:55,840,193...55,867,866
Ensembl chr  X:55,843,218...55,867,686 		JBrowse link
G Rbmx RNA binding motif protein, X chromosome ISO ClinVar Annotator: match by term: Christianson syndrome ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chr  X:56,428,708...56,438,405
Ensembl chr  X:56,428,890...56,438,396 		JBrowse link
G Rs1 retinoschisis (X-linked, juvenile) 1 (human) ISO ClinVar Annotator: match by term: Angelman syndrome-like ClinVar PMID:15499549 PMID:16813600 PMID:18414213 PMID:19241098 PMID:20479760 More... NCBI chr  X:159,548,815...159,584,800
Ensembl chr  X:159,551,009...159,582,659 		JBrowse link
G Slc9a6 solute carrier family 9 (sodium/hydrogen exchanger), member 6 ISO
IAGP		 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
CTD Direct Evidence: marker/mechanism
OMIM:300243		 OMIM
ClinVar
CTD
MouseDO		 PMID:9536098 PMID:15319456 PMID:15358621 PMID:16019685 PMID:16199547 More... NCBI chr  X:55,654,921...55,709,590
Ensembl chr  X:55,655,117...55,709,590 		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 chr  X:56,133,466...56,151,900
Ensembl chr  X:56,133,466...56,151,900 		JBrowse link
G Zic3 zinc finger protein of the cerebellum 3 ISO ClinVar Annotator: match by term: Christianson syndrome ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chr  X:57,075,988...57,081,990
Ensembl chr  X:57,068,060...57,087,096 		JBrowse link
chromosome 15q26-qter deletion syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adamts17 ADAM metallopeptidase with thrombospondin type 1 motif 17 ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chr 7:66,487,387...66,802,373
Ensembl chr 7:66,489,483...66,802,919 		JBrowse link
G Aldh1a3 aldehyde dehydrogenase family 1, subfamily A3 ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chr 7:66,040,640...66,077,225
Ensembl chr 7:66,040,638...66,077,265 		JBrowse link
G Asb7 ankyrin repeat and SOCS box-containing 7 ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chr 7:66,294,220...66,339,601
Ensembl chr 7:66,294,313...66,339,344 		JBrowse link
G Cers3 ceramide synthase 3 ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chr 7:66,382,864...66,473,440
Ensembl chr 7:66,393,252...66,473,439 		JBrowse link
G Chsy1 chondroitin sulfate synthase 1 ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chr 7:65,759,240...65,823,546
Ensembl chr 7:65,759,263...65,823,546 		JBrowse link
G Igf1r insulin-like growth factor I receptor ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chr 7:67,601,486...67,883,416
Ensembl chr 7:67,602,575...67,883,416 		JBrowse link
G Lins1 lines homolog 1 ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chr 7:66,339,565...66,367,004
Ensembl chr 7:66,339,637...66,367,004 		JBrowse link
G Lrrc28 leucine rich repeat containing 28 ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chr 7:67,163,158...67,295,084
Ensembl chr 7:67,163,158...67,295,016 		JBrowse link
G Lrrk1 leucine-rich repeat kinase 1 ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chr 7:65,908,493...66,038,089
Ensembl chr 7:65,876,660...66,038,098 		JBrowse link
G Lysmd4 LysM, putative peptidoglycan-binding, domain containing 4 ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chr 7:66,872,292...66,878,216
Ensembl chr 7:66,872,292...66,957,078 		JBrowse link
G Mef2a myocyte enhancer factor 2A ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chr 7:66,880,911...67,026,435
Ensembl chr 7:66,880,911...67,022,606 		JBrowse link
G Pgpep1l pyroglutamyl-peptidase I-like ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chr 7:67,881,154...67,914,232
Ensembl chr 7:67,886,358...67,913,981 		JBrowse link
G Synm synemin, intermediate filament protein ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chr 7:67,379,909...67,409,490
Ensembl chr 7:67,379,908...67,409,490 		JBrowse link
G Ttc23 tetratricopeptide repeat domain 23 ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chr 7:67,295,180...67,378,370
Ensembl chr 7:67,297,158...67,412,660 		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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Chromosome 17q11.2 deletion syndrome, 1.4Mb | ClinVar Annotator: match by term: Macrocephaly, macrosomia, facial dysmorphism syndrome		 CTD
ClinVar		 PMID:17632510 PMID:21681106 PMID:25741868 PMID:27535533 PMID:28135719 More... NCBI chr11:80,074,652...80,090,581
Ensembl chr11:80,074,677...80,090,583 		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 chr 3:97,066,070...97,083,892
Ensembl chr 3:97,066,093...97,084,615 		JBrowse link
G Bcl9 B cell CLL/lymphoma 9 ISO ClinVar Annotator: match by term: Chromosome 1q21.1 deletion syndrome ClinVar NCBI chr 3:97,110,974...97,205,718
Ensembl chr 3:97,110,978...97,205,233 		JBrowse link
G Chd1l chromodomain helicase DNA binding protein 1-like ISO ClinVar Annotator: match by term: Chromosome 1q21.1 deletion syndrome ClinVar NCBI chr 3:97,468,056...97,517,538
Ensembl chr 3:97,468,058...97,517,519 		JBrowse link
G Fmo5 flavin containing monooxygenase 5 ISO ClinVar Annotator: match by term: Chromosome 1q21.1 deletion syndrome ClinVar NCBI chr 3:97,517,248...97,562,603
Ensembl chr 3:97,536,120...97,562,598 		JBrowse link
G Gja5 gap junction protein, alpha 5 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Chromosome 1q21.1 deletion syndrome		 CTD
ClinVar		 PMID:25741868 PMID:28492532 NCBI chr 3:96,939,718...96,960,950
Ensembl chr 3:96,812,009...96,984,732 		JBrowse link
G Gja8 gap junction protein, alpha 8 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: 1q21.1 Deletion | ClinVar Annotator: match by term: Chromosome 1q21.1 deletion syndrome		 CTD
ClinVar		 PMID:25741868 PMID:26694549 PMID:28492532 PMID:28827829 PMID:29464339 NCBI chr 3:96,820,882...96,833,367
Ensembl chr 3:96,820,882...96,833,336 		JBrowse link
G Prkab2 protein kinase, AMP-activated, beta 2 non-catalytic subunit ISO ClinVar Annotator: match by term: Chromosome 1q21.1 deletion syndrome ClinVar NCBI chr 3:97,565,527...97,581,128
Ensembl chr 3:97,565,509...97,581,128 		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 chr  X:71,962,127...72,002,134
Ensembl chr  X:71,962,163...72,002,120 		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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:17576681 PMID:24678003 PMID:25712757 PMID:25741868 More... NCBI chr 2:115,691,745...115,897,925
Ensembl chr 2:115,693,545...115,896,320 		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 chr15:36,477,814...36,496,937
Ensembl chr15:36,477,814...36,496,966 		JBrowse link
G Atp6v1c1 ATPase, H+ transporting, lysosomal V1 subunit C1 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr15:38,662,096...38,692,688
Ensembl chr15:38,662,177...38,692,690 		JBrowse link
G Azin1 antizyme inhibitor 1 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr15:38,487,674...38,523,506
Ensembl chr15:38,487,671...38,519,510 		JBrowse link
G Baalc brain and acute leukemia, cytoplasmic ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr15:38,739,763...38,814,659
Ensembl chr15:38,740,784...38,816,307 		JBrowse link
G Cox6c cytochrome c oxidase subunit 6C ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr15:35,932,122...35,938,392
Ensembl chr15:35,926,032...35,938,392 		JBrowse link
G Cthrc1 collagen triple helix repeat containing 1 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr15:38,940,327...38,950,516
Ensembl chr15:38,940,327...38,950,516 		JBrowse link
G Dcaf13 DDB1 and CUL4 associated factor 13 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr15:38,976,300...39,010,251
Ensembl chr15:38,976,260...39,010,251 		JBrowse link
G Dcstamp dendrocyte expressed seven transmembrane protein ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr15:39,609,326...39,624,334
Ensembl chr15:39,609,326...39,624,334 		JBrowse link
G Dpys dihydropyrimidinase ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr15:39,631,881...39,720,866
Ensembl chr15:39,631,883...39,720,866 		JBrowse link
G Fbxo43 F-box protein 43 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr15:36,150,206...36,170,086
Ensembl chr15:36,150,206...36,165,030 		JBrowse link
G Fzd6 frizzled class receptor 6 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr15:38,869,673...38,901,587
Ensembl chr15:38,869,429...38,901,583 		JBrowse link
G Grhl2 grainyhead like transcription factor 2 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr15:37,233,065...37,363,813
Ensembl chr15:37,233,280...37,363,813 		JBrowse link
G Kcns2 K+ voltage-gated channel, subfamily S, 2 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:15141358 PMID:16648375 PMID:20461111 PMID:28492532 NCBI chr15:34,837,501...34,843,553
Ensembl chr15:34,837,501...34,843,553 		JBrowse link
G Klf10 Kruppel-like transcription factor 10 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr15:38,291,702...38,300,950
Ensembl chr15:38,291,707...38,300,950 		JBrowse link
G Lrp12 low density lipoprotein-related protein 12 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr15:39,733,985...39,807,417
Ensembl chr15:39,733,985...39,807,390 		JBrowse link
G Mir599 microRNA 599 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:15141358 PMID:16648375 PMID:20461111 PMID:28492532 NCBI chr15:35,660,977...35,661,064
Ensembl chr15:35,660,977...35,661,064 		JBrowse link
G Mir875 microRNA 875 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:15141358 PMID:16648375 PMID:20461111 PMID:28492532 NCBI chr15:35,661,116...35,661,193
Ensembl chr15:35,661,116...35,661,193 		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 chr 7:97,700,261...97,768,730
Ensembl chr 7:97,700,267...97,768,731 		JBrowse link
G Ncald neurocalcin delta ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr15:37,366,419...37,792,816
Ensembl chr15:37,366,419...37,792,814 		JBrowse link
G Nipal2 NIPA-like domain containing 2 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr15:34,572,942...34,679,739
Ensembl chr15:34,572,945...34,679,358 		JBrowse link
G Odf1 outer dense fiber of sperm tails 1 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr15:38,219,447...38,226,979
Ensembl chr15:38,219,447...38,226,979 		JBrowse link
G Osr2 odd-skipped related 2 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:15141358 PMID:16648375 PMID:20461111 PMID:28492532 NCBI chr15:35,296,244...35,303,451
Ensembl chr15:35,296,244...35,303,451 		JBrowse link
G Pabpc1 poly(A) binding protein, cytoplasmic 1 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr15:36,595,902...36,609,825
Ensembl chr15:36,595,905...36,609,912 		JBrowse link
G Polr2k polymerase (RNA) II (DNA directed) polypeptide K ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr15:36,174,156...36,177,158
Ensembl chr15:36,174,156...36,177,156 		JBrowse link
G Pop1 processing of precursor 1, ribonuclease P/MRP family, (S. cerevisiae) ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr15:34,495,457...34,530,799
Ensembl chr15:34,495,450...34,530,794 		JBrowse link
G Rgs22 regulator of G-protein signalling 22 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr15:35,960,664...36,140,718
Ensembl chr15:36,009,625...36,140,546 		JBrowse link
G Rims2 regulating synaptic membrane exocytosis 2 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr15:39,061,681...39,547,768
Ensembl chr15:39,061,656...39,547,768 		JBrowse link
G Rnf19a ring finger protein 19A ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr15:36,240,080...36,283,293
Ensembl chr15:36,240,079...36,283,293 		JBrowse link
G Rrm2b ribonucleotide reductase M2 B (TP53 inducible) ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr15:37,924,196...37,961,562
Ensembl chr15:37,924,196...37,961,562 		JBrowse link
G Slc25a32 solute carrier family 25, member 32 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr15:38,954,625...38,976,213
Ensembl chr15:38,954,626...38,976,111 		JBrowse link
G Snx31 sorting nexin 31 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr15:36,504,208...36,560,274
Ensembl chr15:36,504,208...36,555,718 		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 chr15:36,175,629...36,235,767
Ensembl chr15:36,178,245...36,235,767 		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 chr15:34,875,645...35,155,990
Ensembl chr15:34,875,642...35,179,067 		JBrowse link
G Ubr5 ubiquitin protein ligase E3 component n-recognin 5 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr15:37,966,421...38,084,103
Ensembl chr15:37,967,572...38,079,098 		JBrowse link
G Vps13b vacuolar protein sorting 13B ISO
IAGP		 ClinVar Annotator: match by term: Cohen syndrome | ClinVar Annotator: match by term: Pepper syndrome | ClinVar Annotator: match by term: VPS13B-related condition
OMIM:216550
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:9536098 PMID:11169562 PMID:12730828 PMID:15141358 PMID:15154116 More... NCBI chr15:35,371,264...35,931,375
Ensembl chr15:35,371,306...35,931,375 		JBrowse link
G Ywhaz tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta polypeptide ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr15:36,770,505...36,803,228
Ensembl chr15:36,771,014...36,797,173 		JBrowse link
G Zfp706 zinc finger protein 706 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr15:36,997,271...37,007,646
Ensembl chr15:36,997,271...37,008,017 		JBrowse link
G Zfpm2 zinc finger protein, multitype 2 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr15:40,518,438...40,967,988
Ensembl chr15:40,518,431...40,967,988 		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 melanogenesis associated 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 chr 6:97,783,966...97,998,321
Ensembl chr 6:97,784,013...97,998,310 		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 chr 9:106,765,952...106,769,137
Ensembl chr 9:106,715,511...106,769,178 		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 chr18:38,400,145...38,417,454
Ensembl chr18:38,400,142...38,417,455 		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 chr18:38,410,513...38,450,905
Ensembl chr18:38,417,590...38,450,902 		JBrowse link
Faundes-Banka Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acadvl acyl-Coenzyme A dehydrogenase, very long chain ISO ClinVar Annotator: match by term: Faundes-Banka syndrome ClinVar PMID:31690835 NCBI chr11:69,901,009...69,906,254
Ensembl chr11:69,901,009...69,906,237 		JBrowse link
G Asgr1 asialoglycoprotein receptor 1 ISO ClinVar Annotator: match by term: Faundes-Banka syndrome ClinVar PMID:31690835 NCBI chr11:69,939,735...69,948,721
Ensembl chr11:69,944,911...69,948,720 		JBrowse link
G Asgr2 asialoglycoprotein receptor 2 ISO ClinVar Annotator: match by term: Faundes-Banka syndrome ClinVar PMID:31690835 NCBI chr11:69,983,470...69,997,013
Ensembl chr11:69,983,470...69,997,013 		JBrowse link
G Cldn7 claudin 7 ISO ClinVar Annotator: match by term: Faundes-Banka syndrome ClinVar PMID:31690835 NCBI chr11:69,855,605...69,858,712
Ensembl chr11:69,855,605...69,858,711 		JBrowse link
G Ctdnep1 CTD nuclear envelope phosphatase 1 ISO ClinVar Annotator: match by term: Faundes-Banka syndrome ClinVar PMID:31690835 NCBI chr11:69,871,994...69,881,427
Ensembl chr11:69,871,982...69,881,427 		JBrowse link
G Dlg4 discs large MAGUK scaffold protein 4 ISO ClinVar Annotator: match by term: Faundes-Banka syndrome ClinVar PMID:31690835 NCBI chr11:69,908,029...69,938,107
Ensembl chr11:69,907,768...69,938,348 		JBrowse link
G Dvl2 dishevelled segment polarity protein 2 ISO ClinVar Annotator: match by term: Faundes-Banka syndrome ClinVar PMID:31690835 NCBI chr11:69,891,418...69,900,935
Ensembl chr11:69,891,421...69,903,127 		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 chr11:69,807,538...69,812,784
Ensembl chr11:69,807,540...69,812,784 		JBrowse link
G Elp5 elongator acetyltransferase complex subunit 5 ISO ClinVar Annotator: match by term: Faundes-Banka syndrome ClinVar PMID:31690835 NCBI chr11:69,859,050...69,872,352
Ensembl chr11:69,859,048...69,873,343 		JBrowse link
G Gabarap gamma-aminobutyric acid receptor associated protein ISO ClinVar Annotator: match by term: Faundes-Banka syndrome ClinVar PMID:31690835 NCBI chr11:69,882,196...69,885,775
Ensembl chr11:69,881,969...69,885,777 		JBrowse link
G Gps2 G protein pathway suppressor 2 ISO ClinVar Annotator: match by term: Faundes-Banka syndrome ClinVar PMID:31690835 NCBI chr11:69,804,805...69,807,882
Ensembl chr11:69,804,714...69,807,417 		JBrowse link
G Neurl4 neuralized E3 ubiquitin protein ligase 4 ISO ClinVar Annotator: match by term: Faundes-Banka syndrome ClinVar PMID:31690835 NCBI chr11:69,792,545...69,804,648
Ensembl chr11:69,791,898...69,804,646 		JBrowse link
G Phf23 PHD finger protein 23 ISO ClinVar Annotator: match by term: Faundes-Banka syndrome ClinVar PMID:31690835 NCBI chr11:69,886,592...69,890,837
Ensembl chr11:69,886,603...69,890,835 		JBrowse link
G Slc2a4 solute carrier family 2 (facilitated glucose transporter), member 4 ISO ClinVar Annotator: match by term: Faundes-Banka syndrome ClinVar PMID:31690835 NCBI chr11:69,833,112...69,839,040
Ensembl chr11:69,833,365...69,839,014 		JBrowse link
G Ybx2 Y box protein 2 ISO ClinVar Annotator: match by term: Faundes-Banka syndrome ClinVar PMID:31690835 NCBI chr11:69,826,652...69,832,430
Ensembl chr11:69,826,622...69,832,431 		JBrowse link
Feingold syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mycn v-myc avian myelocytomatosis viral related oncogene, neuroblastoma derived ISO CTD Direct Evidence: marker/mechanism
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		 CTD
ClinVar		 PMID:15821734 PMID:16906565 PMID:18470948 PMID:18671284 PMID:19852433 More... NCBI chr12:12,986,094...12,991,837
Ensembl chr12:12,986,094...12,991,915 		JBrowse link
Feingold Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mycn v-myc avian myelocytomatosis viral related oncogene, neuroblastoma derived ISO ClinVar Annotator: match by term: MYCN-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:30573562 PMID:37710961 NCBI chr12:12,986,094...12,991,837
Ensembl chr12:12,986,094...12,991,915 		JBrowse link
Feingold Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mir17hg Mir17 host gene (non-protein coding) ISO ClinVar Annotator: match by term: BRACHYDACTYLY WITH SHORT STATURE AND MICROCEPHALY ClinVar PMID:21892160 PMID:23495052 PMID:25741868 NCBI chr14:115,281,822...115,284,160
Ensembl chr14:115,280,311...115,284,159 		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, alpha 2 polypeptide 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 chr 1:172,099,276...172,125,631
Ensembl chr 1:172,099,276...172,125,631 		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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Filippi syndrome		 OMIM
CTD
ClinVar		 PMID:8867657 PMID:15365457 PMID:18553552 PMID:25439729 PMID:25741868 More... NCBI chr 2:129,110,130...129,139,148
Ensembl chr 2:129,110,130...129,139,132 		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 chr14:46,620,982...46,628,126
Ensembl chr14:46,620,977...46,628,126 		JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO protein:increased expression:cerebral cortex RGD PMID:22459050 RGD:8547829 NCBI chr 2:164,782,246...164,797,770
Ensembl chr 2:164,782,700...164,797,770 		JBrowse link
G Mtor mechanistic target of rapamycin kinase ISO ClinVar Annotator: match by term: Focal cortical dysplasia type 2
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:17360675 PMID:20190810 PMID:23636326 PMID:24631838 PMID:25741868 More... NCBI chr 4:148,533,039...148,642,142
Ensembl chr 4:148,533,068...148,642,140 		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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9242607 PMID:9328481 PMID:9536098 PMID:9803264 PMID:9863590 More... NCBI chr 2:28,531,005...28,581,183
Ensembl chr 2:28,531,240...28,581,179 		JBrowse link
G Tsc2 TSC complex subunit 2 ISO CTD Direct Evidence: marker/mechanism
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		 CTD
ClinVar
OMIM		 PMID:8824881 PMID:9463313 PMID:9536098 PMID:9829910 PMID:10205261