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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:Malformations of Cortical Development, Group I
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Accession:DOID:9005611 term browser browse the term
Definition:Cortical malformations secondary to abnormal neuronal and glial CELL PROLIFERATION or APOPTOSIS in NEUROGENESIS. This group includes congenital MICROCEPHALIES; MICROLISSENCEPHALIES, megalencephalies, HEMIMEGALENCEPHALIES and cortical dysplasias with balloon cells.
Synonyms:exact_synonym: Abnormal Proliferation Cortical Malformations;   Cortical Malformations, Group I;   Malformations Due to Abnormal Neuronal and Glial Proliferation or Apoptosis;   Malformations Secondary to Abnormal Neuronal and Glial Proliferation or Apoptosis
 primary_id: MESH:D065703

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3p deletion syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ankrd28 ankyrin repeat domain 28 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004936473:8,550,851...8,730,845
Ensembl chrNW_004936473:8,550,950...8,730,902 		JBrowse link
G Capn7 calpain 7 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004936473:3,112,951...3,152,963
Ensembl chrNW_004936473:3,112,951...3,150,640 		JBrowse link
G Ccdc174 coiled-coil domain containing 174 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004936602:360,048...374,960
Ensembl chrNW_004936602:360,604...374,952 		JBrowse link
G Chchd4 coiled-coil-helix-coiled-coil-helix domain containing 4 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004936602:93,126...99,695
Ensembl chrNW_004936602:93,123...95,810 		JBrowse link
G Colq collagen like tail subunit of asymmetric acetylcholinesterase ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004936473:2,877,543...2,941,374
Ensembl chrNW_004936473:2,877,568...2,939,840 		JBrowse link
G CUNH3orf20 chromosome unknown C3orf20 homolog ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004936602:382,904...408,017
Ensembl chrNW_004936602:383,070...408,017 		JBrowse link
G Dazl deleted in azoospermia like ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004936473:9,392,079...9,436,725 JBrowse link
G Dph3 diphthamide biosynthesis 3 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004936473:9,046,062...9,052,522 JBrowse link
G Eaf1 ELL associated factor 1 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004936473:2,950,321...2,963,560
Ensembl chrNW_004936473:2,949,692...2,963,554 		JBrowse link
G Efhb EF-hand domain family member B ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004936473:12,179,950...12,232,093 JBrowse link
G Fbln2 fibulin 2 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004936898:112,687...148,686 JBrowse link
G Fgd5 FYVE, RhoGEF and PH domain containing 5 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004936602:432,114...483,964
Ensembl chrNW_004936602:436,058...482,370 		JBrowse link
G Galnt15 polypeptide N-acetylgalactosaminyltransferase 15 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004936473:8,974,884...9,016,222
Ensembl chrNW_004936473:8,975,948...9,016,228 		JBrowse link
G Grip2 glutamate receptor interacting protein 2 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004936602:276,964...334,942
Ensembl chrNW_004936602:278,252...314,720 		JBrowse link
G Hacl1 2-hydroxyacyl-CoA lyase 1 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004936473:2,823,183...2,856,077
Ensembl chrNW_004936473:2,823,123...2,856,077 		JBrowse link
G Hdac11 histone deacetylase 11 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004936898:148,891...177,471 JBrowse link
G Kat2b lysine acetyltransferase 2B ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004936473:12,341,545...12,415,637
Ensembl chrNW_004936473:12,344,343...12,417,875 		JBrowse link
G Kcnh8 potassium voltage-gated channel subfamily H member 8 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004936473:11,615,877...11,954,377
Ensembl chrNW_004936473:11,616,090...11,953,811 		JBrowse link
G LOC101961662 biotinidase ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004936473:2,787,386...2,823,014 JBrowse link
G Lsm3 LSM3 homolog, U6 small nuclear RNA and mRNA degradation associated ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004936602:140,014...147,000
Ensembl chrNW_004936602:140,004...147,035 		JBrowse link
G Mettl6 methyltransferase 6, tRNA N3-cytidine ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004936473:2,963,591...2,984,827
Ensembl chrNW_004936473:2,963,466...2,985,634 		JBrowse link
G Mrps25 mitochondrial ribosomal protein S25 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004936602:559,127...584,853
Ensembl chrNW_004936602:526,730...584,859 		JBrowse link
G Nr2c2 nuclear receptor subfamily 2 group C member 2 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004936602:491,821...557,790
Ensembl chrNW_004936602:504,652...553,936 		JBrowse link
G Nup210 nucleoporin 210 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004936898:196,545...237,211
Ensembl chrNW_004936898:201,392...237,699 		JBrowse link
G Oxnad1 oxidoreductase NAD binding domain containing 1 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004936473:9,052,679...9,096,411
Ensembl chrNW_004936473:9,052,692...9,099,712 		JBrowse link
G Plcl2 phospholipase C like 2 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004936473:9,628,612...9,801,713
Ensembl chrNW_004936473:9,627,811...9,802,132 		JBrowse link
G Pp2d1 protein phosphatase 2C like domain containing 1 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004936473:12,267,353...12,291,505
Ensembl chrNW_004936473:12,267,538...12,285,582 		JBrowse link
G Rab5a RAB5A, member RAS oncogene family ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004936473:12,238,226...12,267,339
Ensembl chrNW_004936473:12,238,156...12,269,089 		JBrowse link
G Rbsn rabenosyn, RAB effector ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004936602:586,284...607,088
Ensembl chrNW_004936602:586,169...607,158 		JBrowse link
G Rftn1 raftlin, lipid raft linker 1 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004936473:9,119,234...9,317,696
Ensembl chrNW_004936473:9,117,247...9,317,704 		JBrowse link
G Satb1 SATB homeobox 1 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004936473:10,906,059...11,001,007
Ensembl chrNW_004936473:10,904,989...11,001,051 		JBrowse link
G Setd5 SET domain containing 5 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:21681106 NCBI chrNW_004936602:3,577,543...3,654,179
Ensembl chrNW_004936602:3,577,525...3,654,269 		JBrowse link
G Sh3bp5 SH3 domain binding protein 5 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004936473:3,103,878...3,110,435
Ensembl chrNW_004936473:3,038,963...3,109,174 		JBrowse link
G Slc6a6 solute carrier family 6 member 6 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004936602:233,753...274,982 JBrowse link
G Tbc1d5 TBC1 domain family member 5 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004936473:9,868,657...10,294,554
Ensembl chrNW_004936473:9,868,430...10,188,484 		JBrowse link
G Thumpd3 THUMP domain containing 3 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:21681106 NCBI chrNW_004936602:3,664,354...3,689,130
Ensembl chrNW_004936602:3,661,967...3,689,159 		JBrowse link
G Tmem43 transmembrane protein 43 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004936602:104,424...113,692
Ensembl chrNW_004936602:104,033...113,738 		JBrowse link
G Wnt7a Wnt family member 7A ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004936898:45,903...70,313
Ensembl chrNW_004936898:45,115...70,326 		JBrowse link
G Xpc XPC complex subunit, DNA damage recognition and repair factor ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004936602:118,173...139,884
Ensembl chrNW_004936602:118,188...139,675 		JBrowse link
Al-Raqad Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dcps decapping enzyme, scavenger ISO ClinVar Annotator: match by term: Al-Raqad syndrome OMIM
ClinVar		 PMID:25701870 PMID:25712129 PMID:25741868 PMID:28492532 PMID:30289615 NCBI chrNW_004936572:5,861,391...5,899,757
Ensembl chrNW_004936572:5,860,639...5,899,804 		JBrowse link
Amish Lethal Microcephaly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc25a19 solute carrier family 25 member 19 ISO ClinVar Annotator: match by term: Amish lethal microcephaly | ClinVar Annotator: match by term: Microcephaly, Amish type | ClinVar Annotator: match by term: THIAMINE METABOLISM DYSFUNCTION SYNDROME 3 (MICROCEPHALY TYPE) OMIM
ClinVar		 PMID:12185364 PMID:18414213 PMID:19798730 PMID:25741868 PMID:26467025 More... NCBI chrNW_004936594:557,823...570,599 JBrowse link
Arboleda-Tham syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kat6a lysine acetyltransferase 6A ISO ClinVar Annotator: match by term: Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome | ClinVar Annotator: match by term: KAT6A syndrome | ClinVar Annotator: match by term: KAT6A-related condition OMIM
ClinVar		 PMID:17374998 PMID:23431171 PMID:25728775 PMID:25728777 PMID:25741868 More... NCBI chrNW_004936785:602,754...704,504
Ensembl chrNW_004936785:603,478...701,791 		JBrowse link
Asparagine Synthetase Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Asns asparagine synthetase (glutamine-hydrolyzing) ISO ClinVar Annotator: match by term: ASNS DEFICIENCY | ClinVar Annotator: match by term: ASNS-related condition | ClinVar Annotator: match by term: Asparagine synthetase deficiency OMIM
ClinVar		 PMID:16199547 PMID:24139043 PMID:25227173 PMID:25663424 PMID:25741868 More... NCBI chrNW_004936585:2,834,202...2,854,740
Ensembl chrNW_004936585:2,834,008...2,855,387 		JBrowse link
Autosomal Dominant Intellectual Developmental Disorder 63 with Macrocephaly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trio trio Rho guanine nucleotide exchange factor ISO ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal dominant 63, with macrocephaly | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 63, WITH MACROCEPHALY | ClinVar Annotator: match by term: TRIO-related condition OMIM
ClinVar		 PMID:22495306 PMID:25363768 PMID:25741868 PMID:27418539 PMID:28191890 More... NCBI chrNW_004936665:1,821,580...2,029,839
Ensembl chrNW_004936665:1,821,583...2,030,371 		JBrowse link
Bannayan-Riley-Ruvalcaba syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Egfr epidermal growth factor receptor ISO ClinVar Annotator: match by term: Cowden syndrome 1 ClinVar NCBI chrNW_004936678:365,005...560,546
Ensembl chrNW_004936678:365,834...436,528 		JBrowse link
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha ISO ClinVar Annotator: match by term: Cowden syndrome 1 ClinVar PMID:15016963 PMID:15254419 PMID:15520168 PMID:15647370 PMID:15805248 More... NCBI chrNW_004936566:3,924,013...3,951,052
Ensembl chrNW_004936566:3,923,934...3,951,073 		JBrowse link
G Pten phosphatase and tensin homolog ISO ClinVar Annotator: match by term: Bannayan-Riley-Ruvalcaba syndrome | ClinVar Annotator: match by term: Cowden syndrome 1 OMIM
ClinVar		 PMID:1097835 PMID:1336932 PMID:1945792 PMID:2333580 PMID:2338203 More... NCBI chrNW_004936735:1,252,414...1,338,318
Ensembl chrNW_004936735:1,252,414...1,338,323 		JBrowse link
G Sdhb succinate dehydrogenase complex iron sulfur subunit B ISO ClinVar Annotator: match by term: Cowden syndrome 1 ClinVar PMID:19802898 PMID:20923864 PMID:21979946 PMID:23072324 PMID:23512077 More... NCBI chrNW_004936474:3,993,224...4,021,359
Ensembl chrNW_004936474:3,990,778...4,021,423 		JBrowse link
Baralle-Macken Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Copb1 COPI coat complex subunit beta 1 ISO ClinVar Annotator: match by term: Baralle-Macken syndrome OMIM
ClinVar		 PMID:25741868 PMID:33632302 NCBI chrNW_004936528:4,211,670...4,249,103
Ensembl chrNW_004936528:4,211,304...4,249,176 		JBrowse link
Basel-Vanagaite-Smirin-Yosef syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Med25 mediator complex subunit 25 ISO ClinVar Annotator: match by term: Basel-Vanagaite-Smirin-Yosef syndrome OMIM
ClinVar		 PMID:25488817 PMID:25741868 PMID:25792360 PMID:28170084 PMID:28492532 More... NCBI chrNW_004936664:3,610,004...3,629,850
Ensembl chrNW_004936664:3,609,451...3,628,337 		JBrowse link
Beaulieu-Boycott-Innes Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: Beaulieu-Boycott-Innes syndrome ClinVar PMID:15241795 PMID:16571647 PMID:16905551 PMID:17701892 PMID:18435798 More... NCBI chrNW_004936471:10,747,030...10,969,223
Ensembl chrNW_004936471:10,746,996...10,969,231 		JBrowse link
G Thoc6 THO complex subunit 6 ISO ClinVar Annotator: match by term: Beaulieu-Boycott-Innes syndrome | ClinVar Annotator: match by term: Microcephaly, mental retardation, and distinctive facies, with cardiac and genitourinary malformations | ClinVar Annotator: match by term: THOC6-related condition OMIM
ClinVar		 PMID:16199547 PMID:18414213 PMID:23621916 PMID:25741868 PMID:26739162 More... NCBI chrNW_004936694:1,144,122...1,147,345
Ensembl chrNW_004936694:1,143,345...1,147,345 		JBrowse link
Bloom syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aagab alpha and gamma adaptin binding protein ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:27,194,800...27,244,768
Ensembl chrNW_004936471:27,196,888...27,244,806 		JBrowse link
G Abhd17c abhydrolase domain containing 17C, depalmitoylase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936483:19,908,853...19,964,627 JBrowse link
G Abhd2 abhydrolase domain containing 2, acylglycerol lipase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936483:14,974,053...15,079,824
Ensembl chrNW_004936483:14,974,035...15,074,154 		JBrowse link
G Acan aggrecan ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936483:14,811,152...14,846,305
Ensembl chrNW_004936483:14,811,152...14,846,305 		JBrowse link
G Acsbg1 acyl-CoA synthetase bubblegum family member 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:36,767,656...36,822,677
Ensembl chrNW_004936471:36,767,652...36,822,722 		JBrowse link
G Actc1 actin alpha cardiac muscle 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936673:1,092,700...1,098,256
Ensembl chrNW_004936673:1,092,717...1,100,331 		JBrowse link
G Adal adenosine deaminase like ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:6,501,887...6,541,796
Ensembl chrNW_004936471:6,501,891...6,524,141 		JBrowse link
G Adam10 ADAM metallopeptidase domain 10 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:19,760,709...19,911,759
Ensembl chrNW_004936471:19,758,118...19,911,759 		JBrowse link
G Adamts7 ADAM metallopeptidase with thrombospondin type 1 motif 7 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:36,978,555...37,025,733
Ensembl chrNW_004936471:36,978,667...37,025,773 		JBrowse link
G Adamtsl3 ADAMTS like 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936483:18,191,568...18,523,988
Ensembl chrNW_004936483:18,193,198...18,522,028 		JBrowse link
G Adpgk ADP dependent glucokinase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:32,025,310...32,052,558
Ensembl chrNW_004936471:32,026,081...32,052,539 		JBrowse link
G Aen apoptosis enhancing nuclease ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936483:14,601,671...14,611,613 JBrowse link
G Afg2b AFG2 AAA ATPase homolog B ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:8,064,708...8,078,968
Ensembl chrNW_004936471:8,065,363...8,080,939 		JBrowse link
G Agbl1 AGBL carboxypeptidase 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936483:12,358,731...13,056,267
Ensembl chrNW_004936483:12,358,754...12,586,674 		JBrowse link
G Akap13 A-kinase anchoring protein 13 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936483:11,661,862...11,977,292 JBrowse link
G Aldh1a2 aldehyde dehydrogenase 1 family member A2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:19,175,997...19,263,335
Ensembl chrNW_004936471:19,175,992...19,263,335 		JBrowse link
G Alpk3 alpha kinase 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936483:16,862,194...16,913,791
Ensembl chrNW_004936483:16,862,251...16,912,558 		JBrowse link
G Ankdd1a ankyrin repeat and death domain containing 1A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:25,254,021...25,282,486
Ensembl chrNW_004936471:25,258,553...25,281,997 		JBrowse link
G Ankrd34c ankyrin repeat domain 34C ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:37,445,613...37,459,818
Ensembl chrNW_004936471:37,457,110...37,458,729 		JBrowse link
G Ankrd63 ankyrin repeat domain 63 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:3,751,068...3,752,234
Ensembl chrNW_004936471:3,751,068...3,752,234 		JBrowse link
G Anp32a acidic nuclear phosphoprotein 32 family member A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:28,601,816...28,635,002 JBrowse link
G Anpep alanyl aminopeptidase, membrane ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936483:15,563,540...15,582,521
Ensembl chrNW_004936483:15,563,528...15,589,601 		JBrowse link
G Anxa2 annexin A2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:21,274,112...21,329,286
Ensembl chrNW_004936471:21,274,027...21,329,503 		JBrowse link
G Ap3b2 adaptor related protein complex 3 subunit beta 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936483:17,301,969...17,336,962
Ensembl chrNW_004936483:17,298,291...17,337,578 		JBrowse link
G Ap3s2 adaptor related protein complex 3 subunit sigma 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936483:15,613,474...15,660,862
Ensembl chrNW_004936483:15,613,474...15,660,838 		JBrowse link
G Ap4e1 adaptor related protein complex 4 subunit epsilon 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:12,857,259...12,919,615
Ensembl chrNW_004936471:12,857,323...12,916,718 		JBrowse link
G Aph1b aph-1 homolog B, gamma-secretase subunit ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:23,839,962...23,869,788
Ensembl chrNW_004936471:23,839,907...23,869,935 		JBrowse link
G Aqp9 aquaporin 9 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:19,321,366...19,361,227
Ensembl chrNW_004936471:19,321,426...19,362,146 		JBrowse link
G Aqr aquarius intron-binding spliceosomal factor ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936673:922,393...1,032,572
Ensembl chrNW_004936673:922,341...1,033,307 		JBrowse link
G Arid3b AT-rich interaction domain 3B ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:33,540,159...33,585,398
Ensembl chrNW_004936471:33,540,054...33,586,826 		JBrowse link
G Arih1 ariadne RBR E3 ubiquitin protein ligase 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:31,822,592...31,947,624
Ensembl chrNW_004936471:31,822,592...31,947,624 		JBrowse link
G Arnt2 aryl hydrocarbon receptor nuclear translocator 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936483:20,041,712...20,218,853
Ensembl chrNW_004936483:20,041,657...20,218,965 		JBrowse link
G Arpp19 cAMP regulated phosphoprotein 19 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:14,334,667...14,353,131 JBrowse link
G Atosa atos homolog A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:14,362,597...14,454,529
Ensembl chrNW_004936471:14,362,187...14,453,193 		JBrowse link
G Atp8b4 ATPase phospholipid transporting 8B4 (putative) ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:11,999,100...12,216,076
Ensembl chrNW_004936471:12,000,789...12,216,039 		JBrowse link
G Aven apoptosis and caspase activation inhibitor ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936673:2,434,984...2,568,868
Ensembl chrNW_004936673:2,435,308...2,565,180 		JBrowse link
G B2m beta-2-microglobulin ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:7,646,504...7,655,656
Ensembl chrNW_004936471:7,646,373...7,655,778 		JBrowse link
G Bahd1 bromo adjacent homology domain containing 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:3,902,558...3,927,746
Ensembl chrNW_004936471:3,902,625...3,927,829 		JBrowse link
G Bbs4 Bardet-Biedl syndrome 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:31,962,500...32,019,516
Ensembl chrNW_004936471:31,962,336...32,020,712 		JBrowse link
G Bcl2a1 BCL2 related protein A1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:37,981,851...37,993,097
Ensembl chrNW_004936471:37,981,772...37,993,116 		JBrowse link
G Bcl2l10 BCL2 like 10 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:13,943,600...13,946,085 JBrowse link
G Blm BLM RecQ like helicase ISO ClinVar Annotator: match by term: Bloom syndrome | ClinVar Annotator: match by term: Bloom-Torre-Machacek syndrome OMIM
ClinVar		 PMID:2678854 PMID:7585968 PMID:7799980 PMID:9285778 PMID:9388480 More... NCBI chrNW_004936483:16,194,092...16,295,803
Ensembl chrNW_004936483:16,194,092...16,255,905 		JBrowse link
G Bloc1s6 biogenesis of lysosomal organelles complex 1 subunit 6 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:8,209,091...8,226,249
Ensembl chrNW_004936471:8,209,057...8,226,353 		JBrowse link
G Bmf Bcl2 modifying factor ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:3,573,437...3,594,438
Ensembl chrNW_004936471:3,577,221...3,594,981 		JBrowse link
G Bnc1 basonuclin zinc finger protein 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936483:17,900,189...17,911,925
Ensembl chrNW_004936483:17,900,189...17,911,948 		JBrowse link
G Bnip2 BCL2 interacting protein 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:20,655,415...20,675,351
Ensembl chrNW_004936471:20,652,601...20,675,325 		JBrowse link
G Btbd1 BTB domain containing 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936483:17,665,324...17,702,411
Ensembl chrNW_004936483:17,664,884...17,702,464 		JBrowse link
G Bub1b BUB1 mitotic checkpoint serine/threonine kinase B ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:3,631,760...3,696,024
Ensembl chrNW_004936471:3,633,536...3,695,684 		JBrowse link
G C2cd4a C2 calcium dependent domain containing 4A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:22,847,090...22,850,006 JBrowse link
G C2cd4b C2 calcium dependent domain containing 4B ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:22,939,454...22,941,728 JBrowse link
G Ca12 carbonic anhydrase 12 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:23,876,889...23,929,720
Ensembl chrNW_004936471:23,876,812...23,929,987 		JBrowse link
G Calml4 calmodulin like 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:28,058,165...28,067,463
Ensembl chrNW_004936471:28,058,176...28,067,442 		JBrowse link
G Capn3 calpain 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:5,667,839...5,711,822
Ensembl chrNW_004936471:5,668,169...5,711,075 		JBrowse link
G Catsper2 cation channel sperm associated 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:6,791,490...6,809,048
Ensembl chrNW_004936471:6,793,492...6,808,326 		JBrowse link
G Ccdc32 coiled-coil domain containing 32 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:4,016,063...4,028,040
Ensembl chrNW_004936471:4,015,824...4,028,070 		JBrowse link
G Ccdc33 coiled-coil domain containing 33 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:33,261,012...33,366,850
Ensembl chrNW_004936471:33,261,012...33,366,796 		JBrowse link
G Ccdc9b coiled-coil domain containing 9B ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:3,795,964...3,805,023
Ensembl chrNW_004936471:3,795,343...3,805,010 		JBrowse link
G Ccnb2 cyclin B2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:20,216,435...20,238,543 JBrowse link
G Ccndbp1 cyclin D1 binding protein 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:6,365,254...6,375,426
Ensembl chrNW_004936471:6,365,344...6,375,102 		JBrowse link
G Ccpg1 cell cycle progression 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:16,856,731...16,898,219
Ensembl chrNW_004936471:16,854,171...16,898,269 		JBrowse link
G Cd276 CD276 molecule ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:32,864,778...32,892,044
Ensembl chrNW_004936471:32,864,781...32,892,095 		JBrowse link
G Cdan1 codanin 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:5,988,215...6,001,446
Ensembl chrNW_004936471:5,988,738...6,001,649 		JBrowse link
G Cdin1 CDAN1 interacting nuclease 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:501,005...715,208
Ensembl chrNW_004936471:500,978...715,885 		JBrowse link
G Celf6 CUGBP Elav-like family member 6 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:31,668,520...31,700,581
Ensembl chrNW_004936471:31,666,297...31,700,587 		JBrowse link
G Cemip cell migration inducing hyaluronidase 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936483:19,721,256...19,799,371
Ensembl chrNW_004936483:19,724,605...19,799,361 		JBrowse link
G Cep152 centrosomal protein 152 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:11,052,994...11,133,385
Ensembl chrNW_004936471:11,052,720...11,117,327 		JBrowse link
G Cfap161 cilia and flagella associated protein 161 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936483:19,569,009...19,581,626
Ensembl chrNW_004936483:19,569,010...19,581,641 		JBrowse link
G Cgnl1 cingulin like 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:18,654,485...18,811,395
Ensembl chrNW_004936471:18,654,426...18,812,846 		JBrowse link
G Chac1 ChaC glutathione specific gamma-glutamylcyclotransferase 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:4,344,234...4,346,998
Ensembl chrNW_004936471:4,344,053...4,346,913 		JBrowse link
G Chp1 calcineurin like EF-hand protein 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:4,611,980...4,660,320
Ensembl chrNW_004936471:4,611,252...4,660,359 		JBrowse link
G Chrm5 cholinergic receptor muscarinic 5 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936673:2,607,906...2,610,885
Ensembl chrNW_004936673:2,608,003...2,609,624 		JBrowse link
G Chrna3 cholinergic receptor nicotinic alpha 3 subunit ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:36,427,598...36,447,903
Ensembl chrNW_004936471:36,427,495...36,457,758 		JBrowse link
G Chrna5 cholinergic receptor nicotinic alpha 5 subunit ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:36,451,070...36,492,774
Ensembl chrNW_004936471:36,452,965...36,492,618 		JBrowse link
G Chrnb4 cholinergic receptor nicotinic beta 4 subunit ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:36,408,471...36,425,571
Ensembl chrNW_004936471:36,408,447...36,426,021 		JBrowse link
G Chst14 carbohydrate sulfotransferase 14 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:3,930,167...3,932,356
Ensembl chrNW_004936471:3,930,388...3,931,518 		JBrowse link
G Ciao2a cytosolic iron-sulfur assembly component 2A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:24,547,862...24,568,003
Ensembl chrNW_004936471:24,548,235...24,567,792 		JBrowse link
G Cib1 calcium and integrin binding 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936483:15,963,863...15,967,458
Ensembl chrNW_004936483:15,960,036...15,968,094 		JBrowse link
G Cib2 calcium and integrin binding family member 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:36,859,018...36,879,170
Ensembl chrNW_004936471:36,859,018...36,878,878 		JBrowse link
G Cilp cartilage intermediate layer protein ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:25,501,538...25,517,033
Ensembl chrNW_004936471:25,501,179...25,517,144 		JBrowse link
G Cimap1c ciliary microtubule associated protein 1C ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:34,484,748...34,489,508
Ensembl chrNW_004936471:34,484,748...34,489,508 		JBrowse link
G Ckmt1a creatine kinase, mitochondrial 1A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:6,754,514...6,760,025 JBrowse link
G Clk3 CDC like kinase 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:33,600,909...33,615,186
Ensembl chrNW_004936471:33,600,544...33,618,378 		JBrowse link
G Cln6 CLN6 transmembrane ER protein ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:28,069,058...28,084,607
Ensembl chrNW_004936471:28,070,462...28,084,648 		JBrowse link
G Clpx caseinolytic mitochondrial matrix peptidase chaperone subunit X ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:25,447,750...25,484,956
Ensembl chrNW_004936471:25,444,711...25,484,988 		JBrowse link
G Commd4 COMM domain containing 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:34,178,384...34,182,035
Ensembl chrNW_004936471:34,178,373...34,182,080 		JBrowse link
G Cops2 COP9 signalosome subunit 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:11,412,147...11,437,056
Ensembl chrNW_004936471:11,410,543...11,437,096 		JBrowse link
G Coro2b coronin 2B ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:28,481,615...28,552,143
Ensembl chrNW_004936471:28,481,630...28,552,160 		JBrowse link
G Cpeb1 cytoplasmic polyadenylation element binding protein 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936483:17,216,288...17,296,430
Ensembl chrNW_004936483:17,216,213...17,294,534 		JBrowse link
G Cplx3 complexin 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:33,798,523...33,803,045
Ensembl chrNW_004936471:33,798,635...33,802,176 		JBrowse link
G Crabp1 cellular retinoic acid binding protein 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:36,665,641...36,672,626
Ensembl chrNW_004936471:36,662,647...36,672,606 		JBrowse link
G Crtc3 CREB regulated transcription coactivator 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936483:16,356,663...16,465,128
Ensembl chrNW_004936483:16,356,689...16,455,073 		JBrowse link
G Csk C-terminal Src kinase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:33,757,778...33,777,871
Ensembl chrNW_004936471:33,757,772...33,778,933 		JBrowse link
G Csnk1g1 casein kinase 1 gamma 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:24,642,337...24,795,633
Ensembl chrNW_004936471:24,645,762...24,795,414 		JBrowse link
G Cspg4 chondroitin sulfate proteoglycan 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:34,438,676...34,475,005
Ensembl chrNW_004936471:34,438,676...34,475,052 		JBrowse link
G Ctdspl2 CTD small phosphatase like 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:7,425,543...7,502,299
Ensembl chrNW_004936471:7,425,590...7,503,980 		JBrowse link
G Ctsh cathepsin H ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:37,135,200...37,156,081
Ensembl chrNW_004936471:37,131,817...37,156,476 		JBrowse link
G Ctxn2 cortexin 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:10,546,562...10,557,960
Ensembl chrNW_004936471:10,557,512...10,557,760 		JBrowse link
G CUNH15orf39 chromosome unknown C15orf39 homolog ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:34,114,325...34,120,376
Ensembl chrNW_004936471:34,114,278...34,120,369 		JBrowse link
G CUNH15orf40 chromosome unknown C15orf40 homolog ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936483:17,654,996...17,660,204
Ensembl chrNW_004936483:17,653,350...17,660,226 		JBrowse link
G CUNH15orf48 chromosome unknown C15orf48 homolog ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:8,086,731...8,090,540
Ensembl chrNW_004936471:8,087,717...8,090,242 		JBrowse link
G CUNH15orf61 chromosome unknown C15orf61 homolog ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:27,471,069...27,484,061
Ensembl chrNW_004936471:27,471,016...27,475,884 		JBrowse link
G CUNH15orf62 chromosome unknown C15orf62 homolog ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:4,172,505...4,176,071 JBrowse link
G Dapk2 death associated protein kinase 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:24,412,035...24,527,007
Ensembl chrNW_004936471:24,412,029...24,527,023 		JBrowse link
G Dennd4a DENN domain containing 4A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:25,914,284...26,022,512
Ensembl chrNW_004936471:25,914,696...26,022,541 		JBrowse link
G Det1 DET1 partner of COP1 E3 ubiquitin ligase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936483:14,535,771...14,556,236
Ensembl chrNW_004936483:14,535,800...14,556,248 		JBrowse link
G Dis3l DIS3 like exosome 3'-5' exoribonuclease ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:26,477,014...26,515,380
Ensembl chrNW_004936471:26,477,166...26,515,995 		JBrowse link
G Disp2 dispatched RND transporter family member 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:3,821,310...3,836,074
Ensembl chrNW_004936471:3,821,263...3,836,989 		JBrowse link
G Dll4 delta like canonical Notch ligand 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:4,320,235...4,330,251
Ensembl chrNW_004936471:4,320,933...4,330,253 		JBrowse link
G Dmxl2 Dmx like 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:13,330,870...13,483,610
Ensembl chrNW_004936471:13,329,622...13,483,937 		JBrowse link
G Dnaaf4 dynein axonemal assembly factor 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:16,911,575...16,960,521
Ensembl chrNW_004936471:16,912,155...16,960,468 		JBrowse link
G Dnaja4 DnaJ heat shock protein family (Hsp40) member A4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:36,724,689...36,741,029
Ensembl chrNW_004936471:36,724,689...36,741,146 		JBrowse link
G Dnajc17 DnaJ heat shock protein family (Hsp40) member C17 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:4,177,636...4,200,873
Ensembl chrNW_004936471:4,177,623...4,200,879 		JBrowse link
G Dph6 diphthamine biosynthesis 6 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936673:400,871...564,413
Ensembl chrNW_004936673:400,722...567,184 		JBrowse link
G Dpp8 dipeptidyl peptidase 8 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:25,718,576...25,779,871
Ensembl chrNW_004936471:25,718,553...25,779,980 		JBrowse link
G Dtwd1 DTW domain containing 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:11,799,811...11,817,640
Ensembl chrNW_004936471:11,799,825...11,817,712 		JBrowse link
G Duox1 dual oxidase 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:7,848,472...7,881,417
Ensembl chrNW_004936471:7,848,472...7,879,390 		JBrowse link
G Duox2 dual oxidase 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:7,812,163...7,831,258
Ensembl chrNW_004936471:7,813,128...7,831,258 		JBrowse link
G Duoxa1 dual oxidase maturation factor 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:7,836,790...7,846,437
Ensembl chrNW_004936471:7,836,096...7,846,453 		JBrowse link
G Duoxa2 dual oxidase maturation factor 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:7,832,234...7,835,488
Ensembl chrNW_004936471:7,832,234...7,835,476 		JBrowse link
G Dut deoxyuridine triphosphatase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:10,670,604...10,681,356 JBrowse link
G Edc3 enhancer of mRNA decapping 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:33,617,256...33,667,371
Ensembl chrNW_004936471:33,617,256...33,667,390 		JBrowse link
G Efl1 elongation factor like GTPase 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936483:18,550,832...18,685,762
Ensembl chrNW_004936483:18,550,844...18,685,627 		JBrowse link
G Ehd4 EH domain containing 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:5,205,185...5,294,507
Ensembl chrNW_004936471:5,205,183...5,294,557 		JBrowse link
G Eid1 EP300 interacting inhibitor of differentiation 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:11,198,094...11,199,805
Ensembl chrNW_004936471:11,198,171...11,198,746 		JBrowse link
G Eif2ak4 eukaryotic translation initiation factor 2 alpha kinase 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:3,423,792...3,527,089
Ensembl chrNW_004936471:3,423,813...3,526,913 		JBrowse link
G Eif3j eukaryotic translation initiation factor 3 subunit J ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:7,517,577...7,541,965
Ensembl chrNW_004936471:7,517,540...7,540,371 		JBrowse link
G Ell3 elongation factor for RNA polymerase II 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:6,835,410...6,838,582
Ensembl chrNW_004936471:6,835,930...6,838,544 		JBrowse link
G Emc4 ER membrane protein complex subunit 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936673:2,723,563...2,732,164
Ensembl chrNW_004936673:2,723,322...2,732,305 		JBrowse link
G Emc7 ER membrane protein complex subunit 7 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936673:2,624,900...2,640,973
Ensembl chrNW_004936673:2,622,472...2,641,266 		JBrowse link
G Epb42 erythrocyte membrane protein band 4.2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:6,377,232...6,393,588
Ensembl chrNW_004936471:6,377,775...6,395,753 		JBrowse link
G Etfa electron transfer flavoprotein subunit alpha ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:35,868,851...35,942,662
Ensembl chrNW_004936471:35,868,757...35,943,139 		JBrowse link
G Exd1 exonuclease 3'-5' domain containing 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:4,561,253...4,611,472
Ensembl chrNW_004936471:4,561,220...4,611,442 		JBrowse link
G Fah fumarylacetoacetate hydrolase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:38,140,324...38,174,472
Ensembl chrNW_004936471:38,140,273...38,174,702 		JBrowse link
G Fam219b family with sequence similarity 219 member B ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:33,854,954...33,863,391
Ensembl chrNW_004936471:33,857,555...33,862,688 		JBrowse link
G Fam227b family with sequence similarity 227 member B ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:11,730,943...11,800,084 JBrowse link
G Fam81a family with sequence similarity 81 member A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:20,507,110...20,539,161
Ensembl chrNW_004936471:20,507,061...20,541,417 		JBrowse link
G Fam98b family with sequence similarity 98 member B ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:2,118,797...2,149,346
Ensembl chrNW_004936471:2,118,820...2,148,767 		JBrowse link
G Fanci FA complementation group I ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936483:15,096,215...15,179,856
Ensembl chrNW_004936483:15,106,902...15,179,094 		JBrowse link
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:10,747,030...10,969,223
Ensembl chrNW_004936471:10,746,996...10,969,231 		JBrowse link
G Fbxl22 F-box and leucine rich repeat protein 22 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:24,131,046...24,139,835
Ensembl chrNW_004936471:24,132,226...24,136,676 		JBrowse link
G Fbxo22 F-box protein 22 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:36,232,749...36,255,772
Ensembl chrNW_004936471:36,232,583...36,255,672 		JBrowse link
G Fem1b fem-1 homolog B ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:28,115,873...28,135,834
Ensembl chrNW_004936471:28,115,684...28,135,825 		JBrowse link
G Fes FES proto-oncogene, tyrosine kinase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936483:16,123,938...16,135,044
Ensembl chrNW_004936483:16,123,779...16,135,044 		JBrowse link
G Fgf7 fibroblast growth factor 7 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:11,636,733...11,692,782
Ensembl chrNW_004936471:11,635,876...11,693,821 		JBrowse link
G Foxb1 forkhead box B1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:20,934,524...20,935,584
Ensembl chrNW_004936471:20,934,580...20,935,557 		JBrowse link
G Frmd5 FERM domain containing 5 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:6,926,044...7,233,006
Ensembl chrNW_004936471:6,928,398...7,232,765 		JBrowse link
G Fsd2 fibronectin type III and SPRY domain containing 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936483:17,420,009...17,465,269
Ensembl chrNW_004936483:17,422,102...17,451,465 		JBrowse link
G Fsip1 fibrous sheath interacting protein 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:3,084,564...3,270,278
Ensembl chrNW_004936471:3,083,572...3,270,326 		JBrowse link
G Furin furin, paired basic amino acid cleaving enzyme ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936483:16,136,099...16,147,945
Ensembl chrNW_004936483:16,136,099...16,144,635 		JBrowse link
G Gabpb1 GA binding protein transcription factor subunit beta 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:12,340,328...12,402,236
Ensembl chrNW_004936471:12,340,134...12,368,706 		JBrowse link
G Galk2 galactokinase 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:11,448,689...11,572,102
Ensembl chrNW_004936471:11,437,384...11,572,237 		JBrowse link
G Ganc glucosidase alpha, neutral C ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:5,578,248...5,659,917
Ensembl chrNW_004936471:5,577,657...5,662,659 		JBrowse link
G Gatm glycine amidinotransferase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:8,017,611...8,032,703
Ensembl chrNW_004936471:8,017,603...8,032,703 		JBrowse link
G Gchfr GTP cyclohydrolase I feedback regulator ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:4,166,923...4,171,676
Ensembl chrNW_004936471:4,166,506...4,171,713 		JBrowse link
G Gcnt3 glucosaminyl (N-acetyl) transferase 3, mucin type ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:20,627,441...20,631,661
Ensembl chrNW_004936471:20,628,716...20,630,014 		JBrowse link
G Gdpgp1 GDP-D-glucose phosphorylase 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936483:15,967,702...15,984,201
Ensembl chrNW_004936483:15,972,428...15,973,618 		JBrowse link
G Gjd2 gap junction protein delta 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936673:1,129,750...1,133,229
Ensembl chrNW_004936673:1,128,930...1,134,905 		JBrowse link
G Glce glucuronic acid epimerase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:28,984,777...29,035,878
Ensembl chrNW_004936471:28,985,406...29,035,870 		JBrowse link
G Gldn gliomedin ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:13,234,478...13,294,306
Ensembl chrNW_004936471:13,234,478...13,292,323 		JBrowse link
G Gnb5 G protein subunit beta 5 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:13,952,462...14,001,663
Ensembl chrNW_004936471:13,955,991...13,997,073 		JBrowse link
G Golm2 golgi membrane protein 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:7,312,211...7,412,426
Ensembl chrNW_004936471:7,311,914...7,412,534 		JBrowse link
G Gpr176 G protein-coupled receptor 176 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:3,298,247...3,413,093
Ensembl chrNW_004936471:3,298,139...3,413,095 		JBrowse link
G Gramd2a GRAM domain containing 2A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:31,550,506...31,588,377
Ensembl chrNW_004936471:31,550,406...31,587,981 		JBrowse link
G Grem1 gremlin 1, DAN family BMP antagonist ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936673:1,394,743...1,399,726
Ensembl chrNW_004936673:1,395,757...1,396,311 		JBrowse link
G Gtf2a2 general transcription factor IIA subunit 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:20,636,997...20,651,986
Ensembl chrNW_004936471:20,636,202...20,652,013 		JBrowse link
G Hacd3 3-hydroxyacyl-CoA dehydratase 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:25,796,666...25,829,278
Ensembl chrNW_004936471:25,796,620...25,829,948 		JBrowse link
G Hapln3 hyaluronan and proteoglycan link protein 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936483:14,849,778...14,868,094
Ensembl chrNW_004936483:14,849,183...14,859,212 		JBrowse link
G Haus2 HAUS augmin like complex subunit 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:5,826,889...5,840,872
Ensembl chrNW_004936471:5,826,950...5,840,346 		JBrowse link
G Hcn4 hyperpolarization activated cyclic nucleotide gated potassium channel 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:32,527,551...32,570,548
Ensembl chrNW_004936471:32,529,847...32,570,284 		JBrowse link
G Hdc histidine decarboxylase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:12,303,802...12,324,613
Ensembl chrNW_004936471:12,304,130...12,324,570 		JBrowse link
G Hddc3 HD domain containing 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936483:16,090,191...16,092,442
Ensembl chrNW_004936483:16,090,063...16,097,278 		JBrowse link
G Herc1 HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:24,142,227...24,330,966
Ensembl chrNW_004936471:24,141,928...24,330,967 		JBrowse link
G Hexa hexosaminidase subunit alpha ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:31,712,485...31,738,273
Ensembl chrNW_004936471:31,709,491...31,738,245 		JBrowse link
G Hmg20a high mobility group 20A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:34,838,932...34,918,407
Ensembl chrNW_004936471:34,838,587...34,918,491 		JBrowse link
G Homer2 homer scaffold protein 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936483:17,500,962...17,634,804
Ensembl chrNW_004936483:17,507,533...17,539,105 		JBrowse link
G Hykk hydroxylysine kinase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:36,520,182...36,541,087
Ensembl chrNW_004936471:36,517,689...36,541,103 		JBrowse link
G Hypk huntingtin interacting protein K ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:6,860,556...6,861,687
Ensembl chrNW_004936471:6,860,556...6,861,676 		JBrowse link
G Ice2 interactor of little elongation complex ELL subunit 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:21,373,788...21,387,635 JBrowse link
G Idh2 isocitrate dehydrogenase (NADP(+)) 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936483:15,845,777...15,864,341
Ensembl chrNW_004936483:15,845,792...15,864,341 		JBrowse link
G Idh3a isocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:36,823,003...36,842,576
Ensembl chrNW_004936471:36,822,971...36,842,610 		JBrowse link
G Igdcc3 immunoglobulin superfamily DCC subclass member 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:25,618,625...25,657,417
Ensembl chrNW_004936471:25,618,662...25,657,417 		JBrowse link
G Igdcc4 immunoglobulin superfamily DCC subclass member 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:25,660,727...25,698,204
Ensembl chrNW_004936471:25,660,709...25,698,146 		JBrowse link
G Il16 interleukin 16 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936483:19,417,580...19,512,654
Ensembl chrNW_004936483:19,418,086...19,512,639 		JBrowse link
G Imp3 IMP U3 small nucleolar ribonucleoprotein 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:34,405,968...34,407,044
Ensembl chrNW_004936471:34,406,305...34,406,859 		JBrowse link
G Ino80 INO80 complex ATPase subunit ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:4,374,802...4,478,894
Ensembl chrNW_004936471:4,375,395...4,478,899 		JBrowse link
G Insyn1 inhibitory synaptic factor 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:32,909,285...32,924,208
Ensembl chrNW_004936471:32,912,369...32,923,660 		JBrowse link
G Ints14 integrator complex subunit 14 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:25,830,320...25,865,454
Ensembl chrNW_004936471:25,830,320...25,876,760 		JBrowse link
G Iqch IQ motif containing H ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:27,323,099...27,444,602
Ensembl chrNW_004936471:27,244,993...27,449,820 		JBrowse link
G Iqgap1 IQ motif containing GTPase activating protein 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936483:16,489,127...16,594,712
Ensembl chrNW_004936483:16,489,133...16,594,783 		JBrowse link
G Ireb2 iron responsive element binding protein 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:36,547,552...36,601,327
Ensembl chrNW_004936471:36,547,500...36,600,636 		JBrowse link
G Isg20 interferon stimulated exonuclease gene 20 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936483:14,616,796...14,635,290
Ensembl chrNW_004936483:14,617,384...14,635,331 		JBrowse link
G Isl2 ISL LIM homeobox 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:35,840,202...35,845,822
Ensembl chrNW_004936471:35,840,214...35,845,848 		JBrowse link
G Islr immunoglobulin superfamily containing leucine rich repeat ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:33,218,841...33,221,826
Ensembl chrNW_004936471:33,218,805...33,221,785 		JBrowse link
G Islr2 immunoglobulin superfamily containing leucine rich repeat 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:33,182,217...33,191,900
Ensembl chrNW_004936471:33,187,014...33,191,134 		JBrowse link
G Itga11 integrin subunit alpha 11 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:28,140,602...28,255,239
Ensembl chrNW_004936471:28,140,503...28,255,462 		JBrowse link
G Itpka inositol-trisphosphate 3-kinase A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:4,840,113...4,848,881
Ensembl chrNW_004936471:4,840,152...4,848,881 		JBrowse link
G Ivd isovaleryl-CoA dehydrogenase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:3,871,152...3,883,521
Ensembl chrNW_004936471:3,871,148...3,885,241 		JBrowse link
G Jmjd7 jumonji domain containing 7 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:5,136,014...5,143,191
Ensembl chrNW_004936471:5,136,043...5,143,191 		JBrowse link
G Katnbl1 katanin regulatory subunit B1 like 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936673:2,677,847...2,713,645
Ensembl chrNW_004936673:2,675,095...2,713,660 		JBrowse link
G Kbtbd13 kelch repeat and BTB domain containing 13 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:25,399,004...25,401,396
Ensembl chrNW_004936471:25,399,004...25,400,380 		JBrowse link
G Kif23 kinesin family member 23 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:29,154,618...29,177,865
Ensembl chrNW_004936471:29,150,205...29,177,769 		JBrowse link
G Kif7 kinesin family member 7 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936483:15,430,735...15,450,872
Ensembl chrNW_004936483:15,431,470...15,449,067 		JBrowse link
G Klhl25 kelch like family member 25 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936483:12,001,111...12,033,158
Ensembl chrNW_004936483:12,000,514...12,009,705 		JBrowse link
G Knl1 kinetochore scaffold 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:4,079,877...4,110,205
Ensembl chrNW_004936471:4,059,995...4,109,413 		JBrowse link
G Knstrn kinetochore localized astrin (SPAG5) binding protein ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:3,838,507...3,849,521
Ensembl chrNW_004936471:3,838,612...3,848,751 		JBrowse link
G Lactb lactamase beta ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:23,713,144...23,732,214
Ensembl chrNW_004936471:23,713,100...23,732,216 		JBrowse link
G Larp6 La ribonucleoprotein 6, translational regulator ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:30,369,912...30,387,272
Ensembl chrNW_004936471:30,370,440...30,385,518 		JBrowse link
G Lcmt2 leucine carboxyl methyltransferase 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:6,498,300...6,501,811
Ensembl chrNW_004936471:6,499,623...6,501,680 		JBrowse link
G Lctl lactase like ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:26,676,058...26,690,455
Ensembl chrNW_004936471:26,676,064...26,689,959 		JBrowse link
G Ldhal6b lactate dehydrogenase A like 6B ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936489:9,281,228...9,283,132 JBrowse link
G Leo1 LEO1 homolog, Paf1/RNA polymerase II complex component ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:13,753,061...13,783,990
Ensembl chrNW_004936471:13,753,030...13,784,049 		JBrowse link
G Lingo1 leucine rich repeat and Ig domain containing 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:34,657,073...34,729,662
Ensembl chrNW_004936471:34,706,198...34,731,037 		JBrowse link
G Lipc lipase C, hepatic type ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:19,604,083...19,733,721
Ensembl chrNW_004936471:19,703,236...19,733,686 		JBrowse link
G Lman1l lectin, mannose binding 1 like ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:33,785,650...33,797,726
Ensembl chrNW_004936471:33,785,748...33,797,575 		JBrowse link
G LOC101954950 aromatase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:13,107,603...13,136,910
Ensembl chrNW_004936471:13,107,603...13,136,910 		JBrowse link
G LOC101969148 cytochrome P450 1A1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:33,682,730...33,688,332
Ensembl chrNW_004936471:33,682,730...33,688,332 		JBrowse link
G LOC101969421 cytochrome P450 1A2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:33,704,616...33,709,455
Ensembl chrNW_004936471:33,703,792...33,709,484 		JBrowse link
G LOC101971648 cytochrome c oxidase subunit 5A, mitochondrial ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:33,874,638...33,887,377
Ensembl chrNW_004936471:33,872,842...33,887,400 		JBrowse link
G LOC101973699 arpin ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936483:15,664,972...15,682,795
Ensembl chrNW_004936483:15,664,856...15,682,834 		JBrowse link
G LOC101974698 transmembrane protein 202 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:31,756,435...31,762,242 JBrowse link
G LOC101975820 cholesterol side-chain cleavage enzyme, mitochondrial ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:33,367,810...33,380,764
Ensembl chrNW_004936471:33,367,810...33,380,764 		JBrowse link
G Loxl1 lysyl oxidase like 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:33,075,542...33,099,877
Ensembl chrNW_004936471:33,075,461...33,099,910 		JBrowse link
G Lpcat4 lysophosphatidylcholine acyltransferase 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936673:2,843,798...2,851,937
Ensembl chrNW_004936673:2,840,099...2,851,240 		JBrowse link
G Lrrc49 leucine rich repeat containing 49 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:30,416,179...30,578,312
Ensembl chrNW_004936471:30,416,174...30,577,874 		JBrowse link
G Lrrc57 leucine rich repeat containing 57 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:5,822,165...5,826,894
Ensembl chrNW_004936471:5,820,579...5,827,084 		JBrowse link
G Ltk leukocyte receptor tyrosine kinase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:4,849,261...4,857,892
Ensembl chrNW_004936471:4,849,219...4,855,678 		JBrowse link
G Lysmd2 LysM domain containing 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:13,555,166...13,570,268
Ensembl chrNW_004936471:13,555,157...13,562,256 		JBrowse link
G Man2a2 mannosidase alpha class 2A member 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936483:16,096,522...16,116,402
Ensembl chrNW_004936483:16,094,466...16,116,569 		JBrowse link
G Man2c1 mannosidase alpha class 2C member 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:34,193,314...34,206,010
Ensembl chrNW_004936471:34,193,316...34,204,656 		JBrowse link
G Map1a microtubule associated protein 1A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:6,685,565...6,706,860
Ensembl chrNW_004936471:6,685,728...6,705,477 		JBrowse link
G Map2k1 mitogen-activated protein kinase kinase 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:26,589,251...26,628,302
Ensembl chrNW_004936471:26,589,161...26,628,302 		JBrowse link
G Map2k5 mitogen-activated protein kinase kinase 5 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:27,491,255...27,728,572
Ensembl chrNW_004936471:27,491,342...27,728,607 		JBrowse link
G Mapk6 mitogen-activated protein kinase 6 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:13,849,169...13,879,595 JBrowse link
G Mapkbp1 mitogen-activated protein kinase binding protein 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:5,078,259...5,135,937
Ensembl chrNW_004936471:5,080,944...5,133,783 		JBrowse link
G Megf11 multiple EGF like domains 11 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:26,119,146...26,437,057
Ensembl chrNW_004936471:26,114,429...26,437,449 		JBrowse link
G Meis2 Meis homeobox 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:800,510...1,006,054
Ensembl chrNW_004936471:798,739...1,006,047 		JBrowse link
G Mesd mesoderm development LRP chaperone ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936483:19,697,241...19,706,719
Ensembl chrNW_004936483:19,696,739...19,708,447 		JBrowse link
G Mesp1 mesoderm posterior bHLH transcription factor 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936483:15,533,264...15,534,576
Ensembl chrNW_004936483:15,533,522...15,534,576 		JBrowse link
G Mesp2 mesoderm posterior bHLH transcription factor 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936483:15,555,084...15,557,060
Ensembl chrNW_004936483:15,555,084...15,557,060 		JBrowse link
G Mex3b mex-3 RNA binding family member B ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936483:18,766,000...18,771,924
Ensembl chrNW_004936483:18,766,000...18,771,949 		JBrowse link
G Mfap1 microfibril associated protein 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:6,863,262...6,876,669
Ensembl chrNW_004936471:6,860,497...6,876,674 		JBrowse link
G Mfge8 milk fat globule EGF and factor V/VIII domain containing ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936483:14,868,171...14,880,552
Ensembl chrNW_004936483:14,865,033...14,880,794 		JBrowse link
G Mga MAX dimerization protein MGA ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:4,946,770...5,073,925
Ensembl chrNW_004936471:4,946,124...5,073,849 		JBrowse link
G Minar1 membrane integral NOTCH2 associated receptor 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:37,573,475...37,607,329
Ensembl chrNW_004936471:37,573,464...37,610,833 		JBrowse link
G Mindy2 MINDY lysine 48 deubiquitinase 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:19,937,550...20,015,138
Ensembl chrNW_004936471:19,937,254...20,012,777 		JBrowse link
G Mns1 meiosis specific nuclear structural 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:17,767,063...17,798,507
Ensembl chrNW_004936471:17,770,823...17,798,523 		JBrowse link
G Morf4l1 mortality factor 4 like 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:37,073,920...37,097,216
Ensembl chrNW_004936471:37,073,895...37,097,235 		JBrowse link
G Mpi mannose phosphate isomerase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:33,845,003...33,854,263
Ensembl chrNW_004936471:33,844,815...33,854,366 		JBrowse link
G Mrpl46 mitochondrial ribosomal protein L46 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936483:14,488,549...14,497,772
Ensembl chrNW_004936483:14,488,666...14,497,747 		JBrowse link
G Mrps11 mitochondrial ribosomal protein S11 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936483:14,498,101...14,508,713
Ensembl chrNW_004936483:14,500,284...14,508,302 		JBrowse link
G Mtfmt mitochondrial methionyl-tRNA formyltransferase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:25,334,544...25,352,520
Ensembl chrNW_004936471:25,335,068...25,352,480 		JBrowse link
G Mthfs methenyltetrahydrofolate synthetase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:37,910,856...37,964,655
Ensembl chrNW_004936471:37,902,554...37,964,812 		JBrowse link
G Myef2 myelin expression factor 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:10,492,548...10,519,549
Ensembl chrNW_004936471:10,492,803...10,519,059 		JBrowse link
G Myo1e myosin IE ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:20,244,424...20,435,604
Ensembl chrNW_004936471:20,244,397...20,435,648 		JBrowse link
G Myo5a myosin VA ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:14,105,832...14,257,386
Ensembl chrNW_004936471:14,111,841...14,254,246 		JBrowse link
G Myo5c myosin VC ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:14,003,478...14,094,560
Ensembl chrNW_004936471:14,003,515...14,094,587 		JBrowse link
G Myo9a myosin IXA ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:31,255,387...31,548,819
Ensembl chrNW_004936471:31,259,652...31,473,926 		JBrowse link
G Myzap myocardial zonula adherens protein ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:18,853,797...18,940,362
Ensembl chrNW_004936471:18,853,923...18,939,507 		JBrowse link
G Ndufaf1 NADH:ubiquinone oxidoreductase complex assembly factor 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:4,733,707...4,750,390
Ensembl chrNW_004936471:4,731,578...4,750,444 		JBrowse link
G Nedd4 NEDD4 E3 ubiquitin protein ligase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:17,254,777...17,374,725
Ensembl chrNW_004936471:17,252,234...17,374,804 		JBrowse link
G Neil1 nei like DNA glycosylase 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:34,184,273...34,192,675
Ensembl chrNW_004936471:34,186,729...34,192,501 		JBrowse link
G Neo1 neogenin 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:32,345,578...32,517,245
Ensembl chrNW_004936471:32,292,745...32,516,624 		JBrowse link
G Ngrn neugrin, neurite outgrowth associated ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936483:15,994,621...16,001,078
Ensembl chrNW_004936483:15,994,660...16,001,078 		JBrowse link
G Nmb neuromedin B ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936483:16,712,382...16,715,397
Ensembl chrNW_004936483:16,712,363...16,715,749 		JBrowse link
G Nop10 NOP10 ribonucleoprotein ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936673:2,829,599...2,830,407 JBrowse link
G Nox5 NADPH oxidase 5 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:28,777,926...28,838,700 JBrowse link
G Nptn neuroplastin ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:32,726,953...32,813,429
Ensembl chrNW_004936471:32,744,766...32,813,543 		JBrowse link
G Nr2e3 nuclear receptor subfamily 2 group E member 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:31,229,322...31,236,093
Ensembl chrNW_004936471:31,229,564...31,235,654 		JBrowse link
G Nrg4 neuregulin 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:36,062,579...36,240,613
Ensembl chrNW_004936471:36,134,061...36,240,711 		JBrowse link
G Nsmce2 NSE2 (MMS21) homolog, SMC5-SMC6 complex SUMO ligase ISO OMIM:210900 MouseDO NCBI chrNW_004936470:22,447,278...22,667,302
Ensembl chrNW_004936470:22,445,433...22,667,559 		JBrowse link
G Ntrk3 neurotrophic receptor tyrosine kinase 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936483:13,912,904...14,291,881
Ensembl chrNW_004936483:13,909,109...14,291,887 		JBrowse link
G Nusap1 nucleolar and spindle associated protein 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:4,705,757...4,732,446
Ensembl chrNW_004936471:4,705,866...4,731,903 		JBrowse link
G Nutm1 NUT midline carcinoma family member 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936673:2,832,447...2,843,428
Ensembl chrNW_004936673:2,832,400...2,842,703 		JBrowse link
G Oaz2 ornithine decarboxylase antizyme 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:25,069,035...25,081,640
Ensembl chrNW_004936471:25,070,127...25,081,431 		JBrowse link
G Oip5 Opa interacting protein 5 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:4,692,482...4,705,643
Ensembl chrNW_004936471:4,692,099...4,705,984 		JBrowse link
G Onecut1 one cut homeobox 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532
G Pak6 p21 (RAC1) activated kinase 6 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:3,692,058...3,747,355
Ensembl chrNW_004936471:3,713,406...3,747,356 		JBrowse link
G Paqr5 progestin and adipoQ receptor family member 5 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:29,106,618...29,141,320
Ensembl chrNW_004936471:29,062,942...29,141,449 		JBrowse link
G Parp16 poly(ADP-ribose) polymerase family member 16 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:25,561,136...25,580,801
Ensembl chrNW_004936471:25,562,250...25,580,587 		JBrowse link
G Parp6 poly(ADP-ribose) polymerase family member 6 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:31,625,231...31,656,204
Ensembl chrNW_004936471:31,625,231...31,655,208 		JBrowse link
G Patl2 PAT1 homolog 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:7,618,841...7,630,214
Ensembl chrNW_004936471:7,620,215...7,630,214 		JBrowse link
G Pclaf PCNA clamp associated factor ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:24,797,291...24,812,196
Ensembl chrNW_004936471:24,797,393...24,808,227 		JBrowse link
G Pdcd7 programmed cell death 7 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:25,432,956...25,444,036
Ensembl chrNW_004936471:25,434,771...25,444,852 		JBrowse link
G Pde8a phosphodiesterase 8A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936483:17,009,696...17,163,105
Ensembl chrNW_004936483:17,095,318...17,163,114 		JBrowse link
G Pdia3 protein disulfide isomerase family A member 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:6,809,181...6,834,189
Ensembl chrNW_004936471:6,809,195...6,836,169 		JBrowse link
G Peak1 pseudopodium enriched atypical kinase 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:34,918,911...35,199,046
Ensembl chrNW_004936471:35,099,697...35,193,432 		JBrowse link
G Pex11a peroxisomal biogenesis factor 11 alpha ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936483:15,474,484...15,480,527
Ensembl chrNW_004936483:15,472,949...15,480,648 		JBrowse link
G Pias1 protein inhibitor of activated STAT 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:27,925,153...28,055,632
Ensembl chrNW_004936471:27,925,153...28,055,632 		JBrowse link
G Pierce2 piercer of microtubule wall 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:16,898,378...16,902,346
Ensembl chrNW_004936471:16,898,324...16,902,677 		JBrowse link
G Pif1 PIF1 5'-to-3' DNA helicase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:25,165,850...25,173,503
Ensembl chrNW_004936471:25,166,325...25,173,535 		JBrowse link
G Pigb phosphatidylinositol glycan anchor biosynthesis class B ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:16,828,910...16,857,140
Ensembl chrNW_004936471:16,829,159...16,861,536 		JBrowse link
G Pkm pyruvate kinase M1/2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:31,589,322...31,617,891
Ensembl chrNW_004936471:31,589,324...31,617,873 		JBrowse link
G Pla2g4b phospholipase A2 group IVB ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:5,145,736...5,153,930
Ensembl chrNW_004936471:5,145,502...5,153,498 		JBrowse link
G Pla2g4d phospholipase A2 group IVD ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:5,386,762...5,409,165
Ensembl chrNW_004936471:5,386,762...5,409,174 		JBrowse link
G Pla2g4e phospholipase A2 group IVE ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:5,300,932...5,370,150
Ensembl chrNW_004936471:5,302,688...5,370,182 		JBrowse link
G Pla2g4f phospholipase A2 group IVF ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:5,439,389...5,454,437
Ensembl chrNW_004936471:5,439,866...5,454,331 		JBrowse link
G Plcb2 phospholipase C beta 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:3,756,978...3,776,452
Ensembl chrNW_004936471:3,756,970...3,776,392 		JBrowse link
G Plekho2 pleckstrin homology domain containing O2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:25,184,128...25,218,035
Ensembl chrNW_004936471:25,190,570...25,207,506 		JBrowse link
G Plin1 perilipin 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936483:15,457,299...15,470,674
Ensembl chrNW_004936483:15,457,297...15,470,350 		JBrowse link
G Pml PML nuclear body scaffold ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:33,135,186...33,173,218
Ensembl chrNW_004936471:33,135,164...33,177,666 		JBrowse link
G Polg DNA polymerase gamma, catalytic subunit ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936483:15,178,947...15,196,277
Ensembl chrNW_004936483:15,179,342...15,195,258 		JBrowse link
G Polr2m RNA polymerase II subunit M ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:18,971,793...18,977,332
Ensembl chrNW_004936471:18,971,963...18,977,239 		JBrowse link
G Ppib peptidylprolyl isomerase B ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:24,633,769...24,640,246
Ensembl chrNW_004936471:24,632,311...24,640,316 		JBrowse link
G Ppip5k1 diphosphoinositol pentakisphosphate kinase 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:6,707,865...6,751,064
Ensembl chrNW_004936471:6,707,893...6,751,045 		JBrowse link
G Ppp1r14d protein phosphatase 1 regulatory inhibitor subunit 14D ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:4,208,747...4,230,526
Ensembl chrNW_004936471:4,208,762...4,230,526 		JBrowse link
G Prc1 protein regulator of cytokinesis 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936483:16,034,577...16,061,856
Ensembl chrNW_004936483:16,034,550...16,060,909 		JBrowse link
G Prtg protogenin ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:17,068,125...17,188,783
Ensembl chrNW_004936471:17,069,230...17,188,733 		JBrowse link
G Psma4 proteasome 20S subunit alpha 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:36,508,045...36,516,033
Ensembl chrNW_004936471:36,508,017...36,516,062 		JBrowse link
G Pstpip1 proline-serine-threonine phosphatase interacting protein 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:35,272,263...35,294,942
Ensembl chrNW_004936471:35,272,137...35,313,154 		JBrowse link
G Ptpn9 protein tyrosine phosphatase non-receptor type 9 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:34,273,777...34,361,326
Ensembl chrNW_004936471:34,273,135...34,361,265 		JBrowse link
G Pygo1 pygopus family PHD finger 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:16,990,276...17,028,543
Ensembl chrNW_004936471:16,995,029...17,028,549 		JBrowse link
G Rab11a RAB11A, member RAS oncogene family ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:26,089,216...26,111,245
Ensembl chrNW_004936471:26,088,852...26,113,433 		JBrowse link
G Rab27a RAB27A, member RAS oncogene family ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:16,738,204...16,815,561
Ensembl chrNW_004936471:16,738,230...16,815,943 		JBrowse link
G Rab8b RAB8B, member RAS oncogene family ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:23,768,460...23,832,072
Ensembl chrNW_004936471:23,768,415...23,834,129 		JBrowse link
G Rad51 RAD51 recombinase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:4,119,020...4,136,811
Ensembl chrNW_004936471:4,114,530...4,136,248 		JBrowse link
G Ramac RNA guanine-7 methyltransferase activating subunit ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936483:17,634,873...17,643,740 JBrowse link
G Rasgrf1 Ras protein specific guanine nucleotide releasing factor 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:37,173,595...37,278,356
Ensembl chrNW_004936471:37,171,297...37,278,529 		JBrowse link
G Rasgrp1 RAS guanyl releasing protein 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:2,152,231...2,222,260
Ensembl chrNW_004936471:2,153,880...2,222,229 		JBrowse link
G Rasl12 RAS like family 12 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:25,379,587...25,392,408
Ensembl chrNW_004936471:25,379,100...25,392,917 		JBrowse link
G Rbpms2 RNA binding protein, mRNA processing factor 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:25,103,766...25,128,289
Ensembl chrNW_004936471:25,103,693...25,128,295 		JBrowse link
G Rccd1 RCC1 domain containing 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936483:16,049,288...16,071,275
Ensembl chrNW_004936483:16,065,512...16,070,424 		JBrowse link
G Rcn2 reticulocalbin 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:35,347,775...35,364,512
Ensembl chrNW_004936471:35,347,298...35,364,772 		JBrowse link
G Rec114 REC114 meiotic recombination protein ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:32,639,208...32,746,136 JBrowse link
G Rfx7 regulatory factor X7 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:17,465,926...17,588,838
Ensembl chrNW_004936471:17,465,925...17,588,844 		JBrowse link
G Rhcg Rh family C glycoprotein ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936483:15,329,147...15,353,301
Ensembl chrNW_004936483:15,328,364...15,353,404 		JBrowse link
G Rhov ras homolog family member V ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:4,265,581...4,267,655
Ensembl chrNW_004936471:4,265,567...4,267,694 		JBrowse link
G Rlbp1 retinaldehyde binding protein 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936483:15,086,485...15,097,980
Ensembl chrNW_004936483:15,084,756...15,096,072 		JBrowse link
G Rmdn3 regulator of microtubule dynamics 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:4,139,963...4,158,519
Ensembl chrNW_004936471:4,139,583...4,158,491 		JBrowse link
G Rnf111 ring finger protein 111 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:20,139,798...20,210,291
Ensembl chrNW_004936471:20,139,413...20,211,130 		JBrowse link
G Rora RAR related orphan receptor A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:21,402,056...21,567,908
Ensembl chrNW_004936471:21,400,589...22,069,643 		JBrowse link
G Rpap1 RNA polymerase II associated protein 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:4,860,327...4,887,283
Ensembl chrNW_004936471:4,860,291...4,887,540 		JBrowse link
G Rpl4 ribosomal protein L4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:26,635,838...26,641,877
Ensembl chrNW_004936471:26,635,106...26,642,003 		JBrowse link
G Rplp1 ribosomal protein lateral stalk subunit P1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:29,182,772...29,184,750
Ensembl chrNW_004936471:29,182,729...29,186,737 		JBrowse link
G Rps17 ribosomal protein S17 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936483:17,211,129...17,214,509
Ensembl chrNW_004936483:17,210,952...17,214,735 		JBrowse link
G Rps27l ribosomal protein S27 like ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:23,738,896...23,742,355
Ensembl chrNW_004936471:23,738,823...23,745,382 		JBrowse link
G Rpusd2 RNA pseudouridine synthase domain containing 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:4,034,088...4,038,746
Ensembl chrNW_004936471:4,034,001...4,039,137 		JBrowse link
G Rsl24d1 ribosomal L24 domain containing 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:16,721,855...16,735,345
Ensembl chrNW_004936471:16,721,710...16,735,335 		JBrowse link
G Rtf1 RTF1 homolog, Paf1/RNA polymerase II complex component ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:4,770,060...4,829,562
Ensembl chrNW_004936471:4,770,063...4,829,578 		JBrowse link
G Ryr3 ryanodine receptor 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936673:2,078,095...2,434,872
Ensembl chrNW_004936673:1,932,755...2,434,066 		JBrowse link
G Saxo2 stabilizer of axonemal microtubules 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936483:18,530,278...18,550,662
Ensembl chrNW_004936483:18,529,890...18,550,659 		JBrowse link
G Scamp2 secretory carrier membrane protein 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:33,815,251...33,838,565
Ensembl chrNW_004936471:33,815,203...33,838,628 		JBrowse link
G Scamp5 secretory carrier membrane protein 5 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:33,936,721...33,958,439
Ensembl chrNW_004936471:33,936,531...33,958,573
Ensembl chrNW_004936471:33,936,531...33,958,573 		JBrowse link
G Scaper S-phase cyclin A associated protein in the ER ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:35,414,507...35,834,438
Ensembl chrNW_004936471:35,416,571...35,835,048 		JBrowse link
G Scg3 secretogranin III ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:13,514,072...13,552,250
Ensembl chrNW_004936471:13,514,073...13,555,139 		JBrowse link
G Scg5 secretogranin V ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936673:1,312,183...1,367,205
Ensembl chrNW_004936673:1,311,861...1,367,237 		JBrowse link
G Sec11a SEC11 homolog A, signal peptidase complex subunit ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936483:16,724,674...16,764,586
Ensembl chrNW_004936483:16,724,562...16,764,565 		JBrowse link
G Secisbp2l SECIS binding protein 2 like ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:11,302,767...11,357,275
Ensembl chrNW_004936471:11,302,767...11,357,275 		JBrowse link
G Sema4b semaphorin 4B ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936483:15,937,132...15,963,170
Ensembl chrNW_004936483:15,937,398...15,961,911 		JBrowse link
G Sema6d semaphorin 6D ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:10,036,279...10,091,699
Ensembl chrNW_004936471:10,077,222...10,089,286 		JBrowse link
G Sema7a semaphorin 7A (JohnMiltonHagen blood group) ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:33,430,589...33,454,353
Ensembl chrNW_004936471:33,431,889...33,454,311 		JBrowse link
G Senp8 SUMO peptidase family member, NEDD8 specific ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:31,516,486...31,539,214
Ensembl chrNW_004936471:31,517,000...31,536,201 		JBrowse link
G Serf2 small EDRK-rich factor 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:6,851,916...6,853,989 JBrowse link
G Serinc4 serine incorporator 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:6,854,102...6,860,106
Ensembl chrNW_004936471:6,853,921...6,860,164 		JBrowse link
G Sh2d7 SH2 domain containing 7 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:36,880,275...36,885,096 JBrowse link
G Sh3gl3 SH3 domain containing GRB2 like 3, endophilin A3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936483:18,051,023...18,176,514
Ensembl chrNW_004936483:18,050,899...18,176,519 		JBrowse link
G Shc4 SHC adaptor protein 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:11,144,635...11,271,673
Ensembl chrNW_004936471:11,142,429...11,271,557 		JBrowse link
G Shf Src homology 2 domain containing F ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:7,881,484...7,901,583
Ensembl chrNW_004936471:7,879,141...7,901,589 		JBrowse link
G Sin3a SIN3 transcription regulator family member A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:34,206,084...34,260,538
Ensembl chrNW_004936471:34,204,524...34,260,564 		JBrowse link
G Skic8 SKI8 subunit of superkiller complex ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:36,704,236...36,723,675
Ensembl chrNW_004936471:36,704,160...36,723,669 		JBrowse link
G Skor1 SKI family transcriptional corepressor 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:27,745,912...27,754,058
Ensembl chrNW_004936471:27,745,912...27,754,058 		JBrowse link
G Slc12a1 solute carrier family 12 member 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:10,564,530...10,648,124
Ensembl chrNW_004936471:10,564,535...10,646,977 		JBrowse link
G Slc12a6 solute carrier family 12 member 6 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936673:2,731,454...2,825,179
Ensembl chrNW_004936673:2,727,884...2,824,977 		JBrowse link
G Slc24a1 solute carrier family 24 member 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:25,872,854...25,909,102
Ensembl chrNW_004936471:25,872,423...25,908,158 		JBrowse link
G Slc24a5 solute carrier family 24 member 5 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:10,470,078...10,492,334
Ensembl chrNW_004936471:10,470,046...10,493,104 		JBrowse link
G Slc27a2 solute carrier family 27 member 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:12,259,779...12,298,760
Ensembl chrNW_004936471:12,259,734...12,298,760 		JBrowse link
G Slc28a1 solute carrier family 28 member 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936483:16,929,896...16,976,560
Ensembl chrNW_004936483:16,929,896...16,975,969 		JBrowse link
G Slc28a2 solute carrier family 28 member 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:7,937,490...7,967,568
Ensembl chrNW_004936471:7,937,490...7,967,568 		JBrowse link
G Slc30a4 solute carrier family 30 member 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:8,125,839...8,155,720
Ensembl chrNW_004936471:8,125,759...8,155,726 		JBrowse link
G Slc51b SLC51 subunit beta ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:25,355,849...25,379,481
Ensembl chrNW_004936471:25,355,761...25,381,763 		JBrowse link
G Sltm SAFB like transcription modulator ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:20,038,137...20,082,410
Ensembl chrNW_004936471:20,039,081...20,081,721 		JBrowse link
G Smad3 SMAD family member 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:27,080,662...27,185,861
Ensembl chrNW_004936471:27,080,575...27,189,793 		JBrowse link
G Smad6 SMAD family member 6 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:26,781,420...26,856,556
Ensembl chrNW_004936471:26,781,549...26,856,571 		JBrowse link
G Snap23 synaptosome associated protein 23 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:5,784,070...5,818,644
Ensembl chrNW_004936471:5,784,054...5,820,571 		JBrowse link
G Snapc5 small nuclear RNA activating complex polypeptide 5 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:26,629,765...26,634,640
Ensembl chrNW_004936471:26,627,778...26,634,763 		JBrowse link
G Snupn snurportin 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:34,373,492...34,393,666
Ensembl chrNW_004936471:34,373,468...34,393,692 		JBrowse link
G Snx1 sorting nexin 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:24,569,677...24,617,016
Ensembl chrNW_004936471:24,569,609...24,619,826 		JBrowse link
G Snx22 sorting nexin 22 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:24,630,337...24,633,281
Ensembl chrNW_004936471:24,630,428...24,633,702 		JBrowse link
G Snx33 sorting nexin 33 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:34,414,086...34,425,236
Ensembl chrNW_004936471:34,414,474...34,428,784 		JBrowse link
G Sord sorbitol dehydrogenase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:7,760,097...7,805,475
Ensembl chrNW_004936471:7,760,052...7,795,671 		JBrowse link
G Spesp1 sperm equatorial segment protein 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:28,730,571...28,747,066 JBrowse link
G Spg11 SPG11 vesicle trafficking associated, spatacsin ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:7,540,647...7,618,783 JBrowse link
G Spg21 SPG21 abhydrolase domain containing, maspardin ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:25,301,385...25,327,835 JBrowse link
G Spint1 serine peptidase inhibitor, Kunitz type 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:4,238,883...4,251,291
Ensembl chrNW_004936471:4,238,845...4,251,350 		JBrowse link
G Sppl2a signal peptide peptidase like 2A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:12,700,777...12,730,509
Ensembl chrNW_004936471:12,701,014...12,729,995 		JBrowse link
G Spred1 sprouty related EVH1 domain containing 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:1,952,532...2,039,561
Ensembl chrNW_004936471:1,952,532...2,037,501 		JBrowse link
G Sptbn5 spectrin beta, non-erythrocytic 5 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:5,154,294...5,195,083 JBrowse link
G Sqor sulfide quinone oxidoreductase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:8,248,195...8,296,369
Ensembl chrNW_004936471:8,248,172...8,296,383 		JBrowse link
G Srp14 signal recognition particle 14 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:3,527,232...3,530,872 JBrowse link
G Stard5 StAR related lipid transfer domain containing 5 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936483:19,406,273...19,416,619
Ensembl chrNW_004936483:19,406,223...19,419,081 		JBrowse link
G Stard9 StAR related lipid transfer domain containing 9 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:5,842,887...5,986,988 JBrowse link
G Stoml1 stomatin like 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:33,123,662...33,133,017
Ensembl chrNW_004936471:33,124,345...33,132,931 		JBrowse link
G Stra6 signaling receptor and transporter of retinol STRA6 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:33,224,174...33,245,076
Ensembl chrNW_004936471:33,224,859...33,245,030 		JBrowse link
G Strc stereocilin ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:6,760,289...6,777,425
Ensembl chrNW_004936471:6,760,294...6,777,425 		JBrowse link
G Tbc1d21 TBC1 domain family member 21 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:33,033,805...33,042,945
Ensembl chrNW_004936471:33,033,766...33,042,945 		JBrowse link
G Tbc1d2b TBC1 domain family member 2B ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:36,905,690...36,976,916
Ensembl chrNW_004936471:36,905,684...36,981,220 		JBrowse link
G Tcf12 transcription factor 12 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:18,223,221...18,576,922 JBrowse link
G Terb2 telomere repeat binding bouquet formation protein 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:7,713,562...7,728,720
Ensembl chrNW_004936471:7,713,543...7,727,806 		JBrowse link
G Tex9 testis expressed 9 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:17,722,526...17,764,037
Ensembl chrNW_004936471:17,722,526...17,785,374 		JBrowse link
G Tgm5 transglutaminase 5 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:6,406,040...6,442,026
Ensembl chrNW_004936471:6,406,711...6,442,026 		JBrowse link
G Tgm7 transglutaminase 7 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:6,448,051...6,471,521
Ensembl chrNW_004936471:6,448,157...6,460,354 		JBrowse link
G Thap10 THAP domain containing 10 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:30,415,017...30,416,343 JBrowse link
G Thbs1 thrombospondin 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:3,064,466...3,081,125
Ensembl chrNW_004936471:3,064,422...3,081,949 		JBrowse link
G Thsd4 thrombospondin type 1 domain containing 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:31,002,241...31,213,057
Ensembl chrNW_004936471:30,654,136...31,207,266 		JBrowse link
G Ticrr TOPBP1 interacting checkpoint and replication regulator ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936483:15,381,486...15,422,600 JBrowse link
G Tipin TIMELESS interacting protein ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:26,516,511...26,531,403
Ensembl chrNW_004936471:26,517,042...26,531,410 		JBrowse link
G Tle3 TLE family member 3, transcriptional corepressor ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:29,682,313...29,730,229
Ensembl chrNW_004936471:29,682,947...29,731,031 		JBrowse link
G Tln2 talin 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:23,073,267...23,479,286
Ensembl chrNW_004936471:23,135,006...23,479,288 		JBrowse link
G Tlnrd1 talin rod domain containing 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936483:19,684,328...19,686,958
Ensembl chrNW_004936483:19,685,354...19,686,442 		JBrowse link
G Tm6sf1 transmembrane 6 superfamily member 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936483:17,742,721...17,770,165
Ensembl chrNW_004936483:17,742,721...17,771,697 		JBrowse link
G Tmc3 transmembrane channel like 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936483:19,364,956...19,399,773
Ensembl chrNW_004936483:19,364,956...19,399,773 		JBrowse link
G Tmco5a transmembrane and coiled-coil domains 5A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:1,702,243...1,715,822
Ensembl chrNW_004936471:1,702,243...1,715,822 		JBrowse link
G Tmed3 transmembrane p24 trafficking protein 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:37,478,225...37,486,795
Ensembl chrNW_004936471:37,478,097...37,486,809 		JBrowse link
G Tmem266 transmembrane protein 266 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:35,953,997...36,062,931
Ensembl chrNW_004936471:35,953,982...36,062,934 		JBrowse link
G Tmem62 transmembrane protein 62 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:6,323,196...6,365,111
Ensembl chrNW_004936471:6,323,531...6,364,679 		JBrowse link
G Tmem87a transmembrane protein 87A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:5,517,362...5,578,290
Ensembl chrNW_004936471:5,516,332...5,578,290 		JBrowse link
G Tmod2 tropomodulin 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:13,602,769...13,636,258
Ensembl chrNW_004936471:13,602,732...13,729,228 		JBrowse link
G Tnfaip8l3 TNF alpha induced protein 8 like 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:12,952,064...12,987,178
Ensembl chrNW_004936471:12,951,701...12,987,232 		JBrowse link
G Tp53bp1 tumor protein p53 binding protein 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:6,589,395...6,668,242
Ensembl chrNW_004936471:6,589,564...6,668,305 		JBrowse link
G Tpm1 tropomyosin 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:23,643,645...23,670,775
Ensembl chrNW_004936471:23,643,613...23,670,775 		JBrowse link
G Trim69 tripartite motif containing 69 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:7,664,655...7,702,243
Ensembl chrNW_004936471:7,665,218...7,702,243 		JBrowse link
G Trip4 thyroid hormone receptor interactor 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:24,795,718...24,868,440
Ensembl chrNW_004936471:24,811,841...24,869,966 		JBrowse link
G Trpm7 transient receptor potential cation channel subfamily M member 7 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:12,564,617...12,666,229
Ensembl chrNW_004936471:12,565,054...12,665,962 		JBrowse link
G Tspan3 tetraspanin 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:35,237,140...35,264,347
Ensembl chrNW_004936471:35,236,830...35,264,596 		JBrowse link
G Ttbk2 tau tubulin kinase 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:6,003,294...6,108,677
Ensembl chrNW_004936471:6,009,091...6,154,529 		JBrowse link
G Tubgcp4 tubulin gamma complex component 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:6,542,295...6,588,484
Ensembl chrNW_004936471:6,541,713...6,591,692 		JBrowse link
G Tyro3 TYRO3 protein tyrosine kinase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:4,893,185...4,910,779
Ensembl chrNW_004936471:4,893,078...4,910,859 		JBrowse link
G Uaca uveal autoantigen with coiled-coil domains and ankyrin repeats ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:30,213,742...30,312,873
Ensembl chrNW_004936471:30,211,588...30,363,992 		JBrowse link
G Ubap1l ubiquitin associated protein 1 like ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:25,411,891...25,431,264
Ensembl chrNW_004936471:25,410,482...25,431,424 		JBrowse link
G Ube2q2 ubiquitin conjugating enzyme E2 Q2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:36,257,454...36,314,634
Ensembl chrNW_004936471:36,257,454...36,314,634 		JBrowse link
G Ubl7 ubiquitin like 7 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:33,464,321...33,478,584
Ensembl chrNW_004936471:33,464,466...33,478,667 		JBrowse link
G Ubr1 ubiquitin protein ligase E3 component n-recognin 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:6,171,655...6,313,853
Ensembl chrNW_004936471:6,171,593...6,313,937 		JBrowse link
G Ulk3 unc-51 like kinase 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:33,807,825...33,814,520
Ensembl chrNW_004936471:33,807,010...33,814,573 		JBrowse link
G Unc13c unc-13 homolog C ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:15,691,357...16,225,590
Ensembl chrNW_004936471:15,691,647...16,224,147 		JBrowse link
G Unc45a unc-45 myosin chaperone A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936483:16,072,421...16,087,286
Ensembl chrNW_004936483:16,072,663...16,087,218 		JBrowse link
G Ung uracil DNA glycosylase ISO CTD Direct Evidence: marker/mechanism CTD PMID:2106500 NCBI chrNW_004936769:911,296...922,770
Ensembl chrNW_004936769:910,838...922,726 		JBrowse link
G Usp3 ubiquitin specific peptidase 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:24,032,644...24,130,543
Ensembl chrNW_004936471:24,035,655...24,130,997 		JBrowse link
G Usp50 ubiquitin specific peptidase 50 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:12,522,361...12,552,611
Ensembl chrNW_004936471:12,521,731...12,552,346 		JBrowse link
G Usp8 ubiquitin specific peptidase 8 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:12,463,189...12,524,148
Ensembl chrNW_004936471:12,463,120...12,520,674 		JBrowse link
G Vps13c vacuolar protein sorting 13 homolog C ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:22,661,899...22,842,144
Ensembl chrNW_004936471:22,661,447...22,842,150 		JBrowse link
G Vps18 VPS18 core subunit of CORVET and HOPS complexes ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:4,289,487...4,297,634
Ensembl chrNW_004936471:4,289,415...4,298,852 		JBrowse link
G Vps39 VPS39 subunit of HOPS complex ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:5,457,363...5,512,966
Ensembl chrNW_004936471:5,457,035...5,512,625 		JBrowse link
G Wdr72 WD repeat domain 72 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:15,233,828...15,416,415
Ensembl chrNW_004936471:15,233,840...15,416,415 		JBrowse link
G Wdr73 WD repeat domain 73 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936483:16,698,878...16,711,510
Ensembl chrNW_004936483:16,697,086...16,711,518 		JBrowse link
G Wdr76 WD repeat domain 76 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:6,878,350...6,923,951
Ensembl chrNW_004936471:6,878,584...6,923,921 		JBrowse link
G Wdr93 WD repeat domain 93 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936483:15,480,670...15,526,100
Ensembl chrNW_004936483:15,484,970...15,525,865 		JBrowse link
G Whamm WASP homolog associated with actin, golgi membranes and microtubules ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936483:17,469,758...17,492,791
Ensembl chrNW_004936483:17,471,162...17,492,152 		JBrowse link
G Zfand6 zinc finger AN1-type containing 6 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:38,063,932...38,127,190
Ensembl chrNW_004936471:38,063,981...38,127,191 		JBrowse link
G Zfyve19 zinc finger FYVE-type containing 19 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:4,203,391...4,207,332 JBrowse link
G Znf106 zinc finger protein 106 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:5,712,655...5,779,827 JBrowse link
G Znf280d zinc finger protein 280D ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:17,911,723...18,006,121
Ensembl chrNW_004936471:17,909,093...18,006,110 		JBrowse link
G Znf592 zinc finger protein 592 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936483:16,812,578...16,849,188
Ensembl chrNW_004936483:16,813,164...16,849,188 		JBrowse link
G Znf609 zinc finger protein 609 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:24,880,343...25,064,895
Ensembl chrNW_004936471:24,899,154...25,063,379 		JBrowse link
G Znf710 zinc finger protein 710 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936483:15,830,977...15,842,841
Ensembl chrNW_004936483:15,830,978...15,842,384 		JBrowse link
G Znf770 zinc finger protein 770 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936673:908,535...917,818
Ensembl chrNW_004936673:908,653...916,808 		JBrowse link
G Znf774 zinc finger protein 774 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936483:16,615,009...16,623,623
Ensembl chrNW_004936483:16,613,299...16,623,664 		JBrowse link
G Zscan2 zinc finger and SCAN domain containing 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936483:16,648,784...16,676,907
Ensembl chrNW_004936483:16,650,440...16,676,197 		JBrowse link
G Zscan29 zinc finger and SCAN domain containing 29 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:6,532,497...6,541,706
Ensembl chrNW_004936471:6,532,707...6,541,418 		JBrowse link
G Zwilch zwilch kinetochore protein ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:26,642,321...26,674,475
Ensembl chrNW_004936471:26,642,352...26,677,684 		JBrowse link
brain small vessel disease 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col4a1 collagen type IV alpha 1 chain ISO ClinVar Annotator: match by term: Porencephaly 2 ClinVar NCBI chrNW_004936472:2,416,043...2,543,561
Ensembl chrNW_004936472:2,416,566...2,542,814 		JBrowse link
G Col4a2 collagen type IV alpha 2 chain ISO ClinVar Annotator: match by term: COL4A2-Related Disorder | ClinVar Annotator: match by term: COL4A2-related condition | ClinVar Annotator: match by term: Porencephaly 2 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22209246 PMID:22209247 More... NCBI chrNW_004936472:2,270,836...2,416,324
Ensembl chrNW_004936472:2,270,819...2,416,349 		JBrowse link
Cardiofacioneurodevelopmental Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc32 coiled-coil domain containing 32 ISO ClinVar Annotator: match by term: Cardiofacioneurodevelopmental syndrome OMIM
ClinVar		 PMID:25741868 PMID:32307552 PMID:35451546 NCBI chrNW_004936471:4,016,063...4,028,040
Ensembl chrNW_004936471:4,015,824...4,028,070 		JBrowse link
Christianson syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adgrg4 adhesion G protein-coupled receptor G4 ISO ClinVar Annotator: match by term: Christianson syndrome ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chrNW_004936513:10,837,036...10,934,833
Ensembl chrNW_004936513:10,845,610...10,947,288 		JBrowse link
G Arhgef6 Rac/Cdc42 guanine nucleotide exchange factor 6 ISO ClinVar Annotator: match by term: Christianson syndrome ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chrNW_004936513:10,488,525...10,598,366
Ensembl chrNW_004936513:10,488,532...10,598,493 		JBrowse link
G Brs3 bombesin receptor subtype 3 ISO ClinVar Annotator: match by term: Christianson syndrome ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chrNW_004936513:10,784,181...10,788,679
Ensembl chrNW_004936513:10,784,181...10,788,680 		JBrowse link
G Cd40lg CD40 ligand ISO ClinVar Annotator: match by term: Christianson syndrome ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chrNW_004936513:10,607,617...10,620,403
Ensembl chrNW_004936513:10,607,617...10,620,403 		JBrowse link
G Cdkl5 cyclin dependent kinase like 5 ISO ClinVar Annotator: match by term: Angelman syndrome-like ClinVar PMID:15499549 PMID:16015284 PMID:16813600 PMID:18414213 PMID:19241098 More... NCBI chrNW_004936844:101,815...271,254
Ensembl chrNW_004936844:160,833...271,901 		JBrowse link
G Fhl1 four and a half LIM domains 1 ISO ClinVar Annotator: match by term: Christianson syndrome ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chrNW_004936513:11,025,753...11,064,312
Ensembl chrNW_004936513:11,025,715...11,064,312 		JBrowse link
G Gpr101 G protein-coupled receptor 101 ISO ClinVar Annotator: match by term: Christianson syndrome ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chrNW_004936513:10,282,683...10,284,206
Ensembl chrNW_004936513:10,282,683...10,284,206 		JBrowse link
G Hivep2 HIVEP zinc finger 2 ISO ClinVar Annotator: match by term: Angelman syndrome-like ClinVar PMID:25741868 NCBI chrNW_004936625:3,219,260...3,301,361
Ensembl chrNW_004936625:3,267,947...3,301,369 		JBrowse link
G Htatsf1 HIV-1 Tat specific factor 1 ISO ClinVar Annotator: match by term: Christianson syndrome ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chrNW_004936513:10,762,417...10,779,641
Ensembl chrNW_004936513:10,762,398...10,779,374 		JBrowse link
G Map7d3 MAP7 domain containing 3 ISO ClinVar Annotator: match by term: Christianson syndrome ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chrNW_004936513:10,989,123...11,021,086 JBrowse link
G Rbmx RNA binding motif protein X-linked ISO ClinVar Annotator: match by term: Christianson syndrome ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chrNW_004936513:10,429,862...10,442,509
Ensembl chrNW_004936513:10,429,824...10,437,108 		JBrowse link
G Rs1 retinoschisin 1 ISO ClinVar Annotator: match by term: Angelman syndrome-like ClinVar PMID:15499549 PMID:16813600 PMID:18414213 PMID:19241098 PMID:20479760 More... NCBI chrNW_004936844:284,938...314,524
Ensembl chrNW_004936844:284,141...314,545 		JBrowse link
G Slc9a6 solute carrier family 9 member A6 ISO ClinVar Annotator: match by term: Christianson syndrome | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, CHRISTIANSON TYPE | ClinVar Annotator: match by term: X-linked mental retardation, syndromic, Christianson type OMIM
ClinVar		 PMID:9536098 PMID:15319456 PMID:15358621 PMID:16019685 PMID:16199547 More... NCBI chrNW_004936513:11,158,609...11,215,477
Ensembl chrNW_004936513:11,158,730...11,215,568 		JBrowse link
G Vgll1 vestigial like family member 1 ISO ClinVar Annotator: match by term: Christianson syndrome ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chrNW_004936513:10,704,343...10,742,583
Ensembl chrNW_004936513:10,721,500...10,742,670 		JBrowse link
G Zic3 Zic family member 3 ISO ClinVar Annotator: match by term: Christianson syndrome ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chrNW_004936513:9,780,895...9,792,865
Ensembl chrNW_004936513:9,786,709...9,793,077 		JBrowse link
chromosome 15q26-qter deletion syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adamts17 ADAM metallopeptidase with thrombospondin type 1 motif 17 ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chrNW_004936483:3,388,269...3,735,169
Ensembl chrNW_004936483:3,388,342...3,732,639 		JBrowse link
G Aldh1a3 aldehyde dehydrogenase 1 family member A3 ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chrNW_004936483:2,930,781...2,967,309
Ensembl chrNW_004936483:2,930,789...2,967,346 		JBrowse link
G Asb7 ankyrin repeat and SOCS box containing 7 ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chrNW_004936483:3,165,577...3,205,878
Ensembl chrNW_004936483:3,168,137...3,205,880 		JBrowse link
G Chsy1 chondroitin sulfate synthase 1 ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chrNW_004936483:2,613,820...2,685,986
Ensembl chrNW_004936483:2,613,820...2,686,276 		JBrowse link
G Igf1r insulin like growth factor 1 receptor ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chrNW_004936483:4,563,995...4,860,231
Ensembl chrNW_004936483:4,564,512...4,852,925 		JBrowse link
G LOC101958833 ceramide synthase 3 ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chrNW_004936483:3,276,519...3,365,054
Ensembl chrNW_004936483:3,206,110...3,229,939
Ensembl chrNW_004936483:3,206,110...3,229,939 		JBrowse link
G Lrrc28 leucine rich repeat containing 28 ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chrNW_004936483:4,131,900...4,264,019
Ensembl chrNW_004936483:4,131,749...4,264,012 		JBrowse link
G Lrrk1 leucine rich repeat kinase 1 ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chrNW_004936483:2,771,939...2,922,793
Ensembl chrNW_004936483:2,771,938...2,924,525 		JBrowse link
G Lysmd4 LysM domain containing 4 ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chrNW_004936483:3,819,427...3,824,449
Ensembl chrNW_004936483:3,819,381...3,824,128 		JBrowse link
G Mef2a myocyte enhancer factor 2A ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chrNW_004936483:3,837,891...3,982,334
Ensembl chrNW_004936483:3,834,700...3,919,766 		JBrowse link
G Synm synemin ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chrNW_004936483:4,362,891...4,388,558
Ensembl chrNW_004936483:4,365,508...4,389,180 		JBrowse link
G Ttc23 tetratricopeptide repeat domain 23 ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chrNW_004936483:4,265,769...4,360,149
Ensembl chrNW_004936483:4,265,789...4,359,705 		JBrowse link
chromosome 17q11.2 deletion syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rnf135 ring finger protein 135 ISO ClinVar Annotator: match by term: Chromosome 17q11.2 deletion syndrome, 1.4Mb | ClinVar Annotator: match by term: Macrocephaly, macrosomia, facial dysmorphism syndrome ClinVar PMID:17632510 PMID:21681106 PMID:25741868 PMID:27535533 PMID:28135719 More... NCBI chrNW_004936538:2,741,308...2,757,042
Ensembl chrNW_004936538:2,741,220...2,757,240 		JBrowse link
chromosome 1q21.1 deletion syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acp6 acid phosphatase 6, lysophosphatidic ISO ClinVar Annotator: match by term: Chromosome 1q21.1 deletion syndrome ClinVar NCBI chrNW_004936867:171,808...189,266
Ensembl chrNW_004936867:171,799...187,432 		JBrowse link
G Bcl9 BCL9 transcription coactivator ISO ClinVar Annotator: match by term: Chromosome 1q21.1 deletion syndrome ClinVar NCBI chrNW_004936867:136,798...158,936
Ensembl chrNW_004936867:139,418...158,763 		JBrowse link
G Chd1l chromodomain helicase DNA binding protein 1 like ISO ClinVar Annotator: match by term: Chromosome 1q21.1 deletion syndrome ClinVar NCBI chrNW_004937024:164,309...216,967
Ensembl chrNW_004937024:164,327...216,851 		JBrowse link
G Gja5 gap junction protein alpha 5 ISO ClinVar Annotator: match by term: Chromosome 1q21.1 deletion syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936867:269,477...279,549 JBrowse link
G Gja8 gap junction protein alpha 8 ISO ClinVar Annotator: match by term: 1q21.1 Deletion | ClinVar Annotator: match by term: Chromosome 1q21.1 deletion syndrome ClinVar PMID:25741868 PMID:26694549 PMID:28492532 NCBI chrNW_004936867:374,638...378,080
Ensembl chrNW_004936867:374,638...375,933 		JBrowse link
G LOC101973983 5'-AMP-activated protein kinase subunit beta-2 ISO ClinVar Annotator: match by term: Chromosome 1q21.1 deletion syndrome ClinVar NCBI chrNW_004936953:77,671...93,383
Ensembl chrNW_004936953:77,688...93,374 		JBrowse link
CK syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nsdhl NAD(P) dependent steroid dehydrogenase-like ISO ClinVar Annotator: match by term: CK syndrome | ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED, WITH THIN BODY HABITUS AND CORTICAL MALFORMATION OMIM
ClinVar		 PMID:18414213 PMID:19377476 PMID:21129721 PMID:25741868 PMID:28492532 NCBI chrNW_004936714:246,574...273,930
Ensembl chrNW_004936714:246,551...273,912 		JBrowse link
cleft palate, cardiac defects, and intellectual disabillity term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Meis2 Meis homeobox 2 ISO ClinVar Annotator: match by term: CLEFT PALATE, CARDIAC DEFECTS, AND IMPAIRED INTELLECTUAL DEVELOPMENT | ClinVar Annotator: match by term: Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:24678003 PMID:25712757 PMID:25741868 More... NCBI chrNW_004936471:800,510...1,006,054
Ensembl chrNW_004936471:798,739...1,006,047 		JBrowse link
Cohen syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ankrd46 ankyrin repeat domain 46 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chrNW_004936470:42,755,799...42,782,479 JBrowse link
G Atp6v1c1 ATPase H+ transporting V1 subunit C1 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chrNW_004936470:40,626,523...40,675,435
Ensembl chrNW_004936470:40,623,553...40,675,598 		JBrowse link
G Azin1 antizyme inhibitor 1 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chrNW_004936470:40,801,943...40,832,543
Ensembl chrNW_004936470:40,801,943...40,834,003 		JBrowse link
G Baalc BAALC binder of MAP3K1 and KLF4 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chrNW_004936470:40,506,596...40,590,537
Ensembl chrNW_004936470:40,508,338...40,579,585 		JBrowse link
G Cthrc1 collagen triple helix repeat containing 1 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chrNW_004936470:40,381,215...40,392,105
Ensembl chrNW_004936470:40,377,835...40,392,225 		JBrowse link
G Dcaf13 DDB1 and CUL4 associated factor 13 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chrNW_004936470:40,321,103...40,357,001
Ensembl chrNW_004936470:40,320,073...40,356,993 		JBrowse link
G Dcstamp dendrocyte expressed seven transmembrane protein ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chrNW_004936470:39,664,573...39,671,532
Ensembl chrNW_004936470:39,664,511...39,671,532 		JBrowse link
G Dpys dihydropyrimidinase ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chrNW_004936470:39,564,431...39,637,394
Ensembl chrNW_004936470:39,564,335...39,637,544 		JBrowse link
G Fbxo43 F-box protein 43 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chrNW_004936470:43,091,516...43,100,973
Ensembl chrNW_004936470:43,088,714...43,100,973 		JBrowse link
G Fzd6 frizzled class receptor 6 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chrNW_004936470:40,416,254...40,454,717
Ensembl chrNW_004936470:40,416,014...40,454,062 		JBrowse link
G Grhl2 grainyhead like transcription factor 2 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chrNW_004936470:41,856,683...41,961,666
Ensembl chrNW_004936470:41,859,035...42,002,844 		JBrowse link
G Kcns2 potassium voltage-gated channel modifier subfamily S member 2 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chrNW_004936470:44,455,117...44,460,193
Ensembl chrNW_004936470:44,456,526...44,460,327 		JBrowse link
G Klf10 KLF transcription factor 10 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chrNW_004936470:40,980,487...40,986,880
Ensembl chrNW_004936470:40,980,487...40,986,885 		JBrowse link
G LOC101970194 cytochrome c oxidase subunit 6C ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chrNW_004936470:43,269,744...43,280,886
Ensembl chrNW_004936470:43,269,711...43,283,683 		JBrowse link
G Lrp12 LDL receptor related protein 12 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chrNW_004936470:39,459,395...39,542,125
Ensembl chrNW_004936470:39,459,002...39,544,577 		JBrowse link
G Myo7a myosin VIIA ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:9382091 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chrNW_004936498:5,758,572...5,824,526
Ensembl chrNW_004936498:5,751,779...5,824,378 		JBrowse link
G Ncald neurocalcin delta ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chrNW_004936470:41,573,238...41,852,349
Ensembl chrNW_004936470:41,573,238...41,852,337 		JBrowse link
G Nipal2 NIPA like domain containing 2 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chrNW_004936470:44,588,211...44,645,860
Ensembl chrNW_004936470:44,588,168...44,646,651 		JBrowse link
G Odf1 outer dense fiber of sperm tails 1 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chrNW_004936470:41,069,033...41,078,020
Ensembl chrNW_004936470:41,069,033...41,078,020 		JBrowse link
G Osr2 odd-skipped related transciption factor 2 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chrNW_004936470:44,024,497...44,032,429
Ensembl chrNW_004936470:44,024,439...44,032,429 		JBrowse link
G Pabpc1 poly(A) binding protein cytoplasmic 1 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chrNW_004936470:42,628,890...42,670,311
Ensembl chrNW_004936470:42,628,667...42,643,347 		JBrowse link
G Polr2k RNA polymerase II, I and III subunit K ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chrNW_004936470:43,079,377...43,083,251
Ensembl chrNW_004936470:43,081,284...43,083,236 		JBrowse link
G Pop1 POP1 homolog, ribonuclease P/MRP subunit ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chrNW_004936470:44,676,798...44,710,397
Ensembl chrNW_004936470:44,676,776...44,710,716 		JBrowse link
G Rgs22 regulator of G protein signaling 22 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chrNW_004936470:43,135,410...43,225,788
Ensembl chrNW_004936470:43,122,822...43,219,279 		JBrowse link
G Rims2 regulating synaptic membrane exocytosis 2 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chrNW_004936470:39,725,092...40,270,268
Ensembl chrNW_004936470:39,723,091...40,270,267 		JBrowse link
G Rnf19a ring finger protein 19A, RBR E3 ubiquitin protein ligase ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chrNW_004936470:42,965,790...43,007,487
Ensembl chrNW_004936470:42,965,284...43,007,487 		JBrowse link
G Rrm2b ribonucleotide reductase regulatory TP53 inducible subunit M2B ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chrNW_004936470:41,354,387...41,401,308
Ensembl chrNW_004936470:41,354,287...41,401,317 		JBrowse link
G Slc25a32 solute carrier family 25 member 32 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chrNW_004936470:40,357,066...40,370,514
Ensembl chrNW_004936470:40,357,446...40,370,514 		JBrowse link
G Snx31 sorting nexin 31 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chrNW_004936470:42,684,346...42,743,001
Ensembl chrNW_004936470:42,684,346...42,742,092 		JBrowse link
G Spag1 sperm associated antigen 1 ISO ClinVar Annotator: match by term: Cohen syndrome | ClinVar Annotator: match by term: VPS13B-related condition ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936470:43,015,688...43,078,158
Ensembl chrNW_004936470:43,016,575...43,075,239 		JBrowse link
G Stk3 serine/threonine kinase 3 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chrNW_004936470:44,159,449...44,436,295
Ensembl chrNW_004936470:44,159,419...44,436,330 		JBrowse link
G Ubr5 ubiquitin protein ligase E3 component n-recognin 5 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chrNW_004936470:41,222,782...41,345,755
Ensembl chrNW_004936470:41,252,951...41,344,134 		JBrowse link
G Vps13b vacuolar protein sorting 13 homolog B ISO ClinVar Annotator: match by term: Cohen syndrome | ClinVar Annotator: match by term: VPS13B-related condition OMIM
ClinVar		 PMID:9536098 PMID:11169562 PMID:12730828 PMID:15141358 PMID:15154116 More... NCBI chrNW_004936470:43,281,905...43,952,523
Ensembl chrNW_004936470:43,281,469...43,951,805 		JBrowse link
G Ywhaz tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chrNW_004936470:42,444,671...42,470,548
Ensembl chrNW_004936470:42,445,412...42,470,900 		JBrowse link
G Zfpm2 zinc finger protein, FOG family member 2 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chrNW_004936470:38,432,894...38,857,656
Ensembl chrNW_004936470:38,432,897...38,857,662 		JBrowse link
G Znf706 zinc finger protein 706 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chrNW_004936470:42,245,657...42,253,492
Ensembl chrNW_004936470:42,245,765...42,251,590 		JBrowse link
COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mitf melanocyte inducing transcription factor susceptibility ISO ClinVar Annotator: match by term: Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness ClinVar
OMIM		 PMID:8659547 PMID:16199547 PMID:20127975 PMID:25741868 PMID:27889061 More... NCBI chrNW_004936603:1,682,411...1,858,295
Ensembl chrNW_004936603:1,682,513...1,858,173 		JBrowse link
Diabetes, Deafness, Developmental Delay, and Short Stature Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Manf mesencephalic astrocyte derived neurotrophic factor ISO ClinVar Annotator: match by term: Diabetes, deafness, developmental delay, and short stature syndrome OMIM
ClinVar		 PMID:26077850 PMID:33500254 NCBI chrNW_004936529:2,774,651...2,777,960
Ensembl chrNW_004936529:2,774,543...2,779,579 		JBrowse link
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pcdh12 protocadherin 12 ISO ClinVar Annotator: match by term: Diencephalic-mesencephalic junction dysplasia syndrome 1 OMIM
ClinVar		 PMID:7774041 PMID:22822038 PMID:25741868 PMID:27164683 PMID:28492532 More... NCBI chrNW_004936504:12,226,771...12,244,959
Ensembl chrNW_004936504:12,229,995...12,242,487 		JBrowse link
G Rnf14 ring finger protein 14 ISO ClinVar Annotator: match by term: Diencephalic-mesencephalic junction dysplasia syndrome 1 ClinVar PMID:7774041 PMID:22822038 PMID:25741868 PMID:27164683 PMID:28492532 More... NCBI chrNW_004936504:12,200,395...12,217,454
Ensembl chrNW_004936504:12,200,388...12,217,518 		JBrowse link
Faundes-Banka Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eif5a eukaryotic translation initiation factor 5A ISO ClinVar Annotator: match by term: Faundes-Banka syndrome OMIM
ClinVar		 PMID:25741868 PMID:33547280 NCBI chrNW_004936595:604,268...609,075 JBrowse link
Feingold syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mycn MYCN proto-oncogene, bHLH transcription factor ISO ClinVar Annotator: match by term: 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: MMT syndrome | ClinVar Annotator: match by term: Microcephaly-oculo-digito-esophageal-duodenal syndrome ClinVar PMID:15821734 PMID:16906565 PMID:18470948 PMID:18671284 PMID:20301770 More... NCBI chrNW_004936493:14,618,176...14,624,201
Ensembl chrNW_004936493:14,618,060...14,624,315 		JBrowse link
Feingold Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mycn MYCN proto-oncogene, bHLH transcription factor ISO ClinVar Annotator: match by term: MYCN-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:30573562 PMID:37710961 NCBI chrNW_004936493:14,618,176...14,624,201
Ensembl chrNW_004936493:14,618,060...14,624,315 		JBrowse link
FETAL AKINESIA, RESPIRATORY INSUFFICIENCY, MICROCEPHALY, POLYMICROGYRIA, AND DYSMORPHIC FACIES term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp1a2 ATPase Na+/K+ transporting subunit alpha 2 ISO ClinVar Annotator: match by term: Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies OMIM
ClinVar		 PMID:15159495 PMID:15174025 PMID:17142831 PMID:18414213 PMID:18728015 More... NCBI chrNW_004936740:489,357...514,235
Ensembl chrNW_004936740:488,154...514,308 		JBrowse link
Filippi syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ckap2l cytoskeleton associated protein 2 like ISO ClinVar Annotator: match by term: Filippi syndrome OMIM
ClinVar		 PMID:8867657 PMID:15365457 PMID:18553552 PMID:25439729 PMID:25741868 More... NCBI chrNW_004936783:1,175,044...1,194,407
Ensembl chrNW_004936783:1,173,627...1,193,813 		JBrowse link
G Nt5dc4 5'-nucleotidase domain containing 4 ISO ClinVar Annotator: match by term: Filippi syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936783:1,162,977...1,170,876 JBrowse link
Focal Cortical Dysplasia of Taylor term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bmp4 bone morphogenetic protein 4 ISO protein:decreased expression, altered localization:cerebral cortex: RGD PMID:22752548 RGD:9068443 NCBI chrNW_004936697:1,054,237...1,061,468
Ensembl chrNW_004936697:1,056,636...1,061,468 		JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO protein:increased expression:cerebral cortex RGD PMID:22459050 RGD:8547829 NCBI chrNW_004936514:7,038,240...7,045,873
Ensembl chrNW_004936514:7,037,639...7,045,793 		JBrowse link
G Mtor mechanistic target of rapamycin kinase ISO ClinVar Annotator: match by term: Focal cortical dysplasia type 2 OMIM
ClinVar		 PMID:17360675 PMID:20190810 PMID:23636326 PMID:24631838 PMID:25741868 More... NCBI chrNW_004936474:158,376...282,310
Ensembl chrNW_004936474:157,590...282,342 		JBrowse link
G Tsc1 TSC complex subunit 1 ISO ClinVar Annotator: match by term: Cortical dysplasia of Taylor | ClinVar Annotator: match by term: Focal cortical dysplasia of Taylor | ClinVar Annotator: match by term: Focal cortical dysplasia type 2 | ClinVar Annotator: match by term: Focal cortical dysplasia type II OMIM
ClinVar		 PMID:9242607 PMID:9328481 PMID:9536098 PMID:9803264 PMID:9863590 More... NCBI chrNW_004936487:19,331,183...19,386,841
Ensembl chrNW_004936487:19,331,194...19,386,892 		JBrowse link
G Tsc2 TSC complex subunit 2 ISO ClinVar Annotator: match by term: Focal cortical dysplasia of Taylor | ClinVar Annotator: match by term: Focal cortical dysplasia type 2 | ClinVar Annotator: match by term: Focal cortical dysplasia type II OMIM
ClinVar		 PMID:8824881 PMID:9463313 PMID:9536098 PMID:9829910 PMID:10205261 More... NCBI chrNW_004936694:1,958,152...1,993,373
Ensembl chrNW_004936694:1,958,154...1,993,363 		JBrowse link
Galloway-Mowat syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gon7 GON7 subunit of KEOPS complex ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome ClinVar PMID:25741868 PMID:31481669 NCBI chrNW_004936733:1,109,456...1,127,176
Ensembl chrNW_004936733:1,124,039...1,127,566 		JBrowse link
G Lage3 L antigen family member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28805828 NCBI chrNW_004936809:1,229,933...1,232,448 JBrowse link
G Osgep O-sialoglycoprotein endopeptidase ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome ClinVar PMID:17897280 PMID:25741868 PMID:28272532 PMID:28805828 NCBI chrNW_004936877:659,881...666,169
Ensembl chrNW_004936877:659,874...666,026 		JBrowse link
G Tp53rk TP53 regulating kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:28805828 NCBI chrNW_004936514:6,512,838...6,515,479
Ensembl chrNW_004936514:6,512,778...6,515,771 		JBrowse link
G Tprkb TP53RK binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:28805828 NCBI chrNW_004936491:17,493,630...17,500,779
Ensembl chrNW_004936491:17,493,285...17,500,523 		JBrowse link
G Wdr4 WD repeat domain 4 ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome ClinVar PMID:25741868 PMID:30079490 NCBI chrNW_004936500:1,144,190...1,162,925
Ensembl chrNW_004936500:1,144,097...1,167,296 		JBrowse link
G Wdr73 WD repeat domain 73 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25466283 NCBI chrNW_004936483:16,698,878...16,711,510
Ensembl chrNW_004936483:16,697,086...16,711,518 		JBrowse link
G Znf592 zinc finger protein 592 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20531441 NCBI chrNW_004936483:16,812,578...16,849,188
Ensembl chrNW_004936483:16,813,164...16,849,188 		JBrowse link
Galloway-Mowat syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eng endoglin ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 1 ClinVar PMID:12673790 PMID:15879500 PMID:21158752 PMID:23399955 PMID:24055113 More... NCBI chrNW_004936487:15,467,165...15,499,180
Ensembl chrNW_004936487:15,467,835...15,477,488 		JBrowse link
G Wdr73 WD repeat domain 73 ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 1 | ClinVar Annotator: match by term: WDR73-related condition OMIM
ClinVar		 PMID:11391656 PMID:12030328 PMID:16217710 PMID:20531441 PMID:25466283 More... NCBI chrNW_004936483:16,698,878...16,711,510
Ensembl chrNW_004936483:16,697,086...16,711,518 		JBrowse link
G Znf592 zinc finger protein 592 ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 1 ClinVar PMID:12030328 PMID:20531441 PMID:25741868 PMID:26123727 NCBI chrNW_004936483:16,812,578...16,849,188
Ensembl chrNW_004936483:16,813,164...16,849,188 		JBrowse link
Galloway-Mowat Syndrome 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CUNH1orf122 chromosome unknown C1orf122 homolog ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 10 ClinVar PMID:31481669 NCBI chrNW_004936474:19,979,705...19,981,362
Ensembl chrNW_004936474:19,979,710...19,981,366 		JBrowse link
G Yrdc yrdC N6-threonylcarbamoyltransferase domain containing ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 10 OMIM
ClinVar		 PMID:31481669 PMID:34545459 NCBI chrNW_004936474:19,975,781...19,980,103
Ensembl chrNW_004936474:19,975,849...19,980,096 		JBrowse link
Galloway-Mowat syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lage3 L antigen family member 3 ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 2, X-linked OMIM
ClinVar		 PMID:12693786 PMID:25741868 PMID:28492532 PMID:28805828 NCBI chrNW_004936809:1,229,933...1,232,448 JBrowse link
Galloway-Mowat syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Osgep O-sialoglycoprotein endopeptidase ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 3 OMIM
ClinVar		 PMID:11519896 PMID:15966048 PMID:17897280 PMID:18019379 PMID:21791310 More... NCBI chrNW_004936877:659,881...666,169
Ensembl chrNW_004936877:659,874...666,026 		JBrowse link
Galloway-Mowat syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tp53rk TP53 regulating kinase ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 4 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:28805828 PMID:32581362 NCBI chrNW_004936514:6,512,838...6,515,479
Ensembl chrNW_004936514:6,512,778...6,515,771 		JBrowse link
Galloway-Mowat syndrome 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tprkb TP53RK binding protein ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 5 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:28805828 PMID:29127259 NCBI chrNW_004936491:17,493,630...17,500,779
Ensembl chrNW_004936491:17,493,285...17,500,523 		JBrowse link
Galloway-Mowat Syndrome 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wdr4 WD repeat domain 4 ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 6 OMIM
ClinVar		 PMID:25741868 PMID:26416026 PMID:28492532 PMID:28617965 PMID:29597095 More... NCBI chrNW_004936500:1,144,190...1,162,925
Ensembl chrNW_004936500:1,144,097...1,167,296 		JBrowse link
Galloway-Mowat Syndrome 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nup107 nucleoporin 107 ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 7 OMIM
ClinVar		 PMID:25558065 PMID:25741868 PMID:28117080 PMID:28280135 PMID:28492532 More... NCBI chrNW_004936545:6,600,124...6,642,839
Ensembl chrNW_004936545:6,600,088...6,642,870 		JBrowse link
Galloway-Mowat Syndrome 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nup133 nucleoporin 133 ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 8 OMIM
ClinVar		 PMID:11793129 PMID:25741868 PMID:28492532 PMID:30427554 NCBI chrNW_004936484:20,185,558...20,230,904
Ensembl chrNW_004936484:20,185,584...20,231,352 		JBrowse link
Galloway-Mowat Syndrome 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gon7 GON7 subunit of KEOPS complex ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 9 OMIM
ClinVar		 PMID:25741868 PMID:31481669 NCBI chrNW_004936733:1,109,456...1,127,176
Ensembl chrNW_004936733:1,124,039...1,127,566 		JBrowse link
Hemimegalencephaly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Foxp1 forkhead box P1 ISO protein:altered expression:neocortex (human) RGD PMID:22759905 RGD:11560525 NCBI chrNW_004936603:2,631,781...3,146,104
Ensembl chrNW_004936603:2,632,274...2,830,324 		JBrowse link
G Grin1 glutamate ionotropic receptor NMDA type subunit 1 ISO ClinVar Annotator: match by term: Hemimegalencephaly ClinVar PMID:25741868 NCBI chrNW_004936669:814,330...838,881
Ensembl chrNW_004936669:814,330...839,208 		JBrowse link
G Mtor mechanistic target of rapamycin kinase ISO ClinVar Annotator: match by term: Unilateral Megalencephaly ClinVar PMID:24631838 PMID:25799227 PMID:26619011 PMID:28864461 PMID:29281825 NCBI chrNW_004936474:158,376...282,310
Ensembl chrNW_004936474:157,590...282,342 		JBrowse link
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha ISO ClinVar Annotator: match by term: Unilateral Megalencephaly ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936566:3,924,013...3,951,052
Ensembl chrNW_004936566:3,923,934...3,951,073 		JBrowse link
G Pten phosphatase and tensin homolog ISO ClinVar Annotator: match by term: Hemimegalencephaly ClinVar PMID:25741868 NCBI chrNW_004936735:1,252,414...1,338,318
Ensembl chrNW_004936735:1,252,414...1,338,323 		JBrowse link
G Rheb Ras homolog, mTORC1 binding ISO ClinVar Annotator: match by term: Hemimegalencephaly ClinVar PMID:30414531 NCBI chrNW_004936527:6,832,286...6,877,938
Ensembl chrNW_004936527:6,832,169...6,878,164 		JBrowse link
G Rps6 ribosomal protein S6 ISO ClinVar Annotator: match by term: Hemimegalencephaly ClinVar NCBI chrNW_004936652:1,252,986...1,255,987
Ensembl chrNW_004936652:1,253,025...1,255,906 		JBrowse link
Heyn-Sproul-Jackson Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnmt3a DNA methyltransferase 3 alpha ISO ClinVar Annotator: match by term: Heyn-Sproul-Jackson syndrome OMIM
ClinVar		 PMID:11836534 PMID:15456878 PMID:25741868 PMID:26912663 PMID:28492532 More... NCBI chrNW_004936493:6,963,406...7,013,256
Ensembl chrNW_004936493:6,935,386...7,007,610 		JBrowse link
Hoyeraal Hreidarsson Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dkc1 dyskerin pseudouridine synthase 1 ISO ClinVar Annotator: match by term: Hoyeraal-Hreidarsson syndrome ClinVar PMID:7607282 PMID:10583221 PMID:12437656 PMID:19734544 PMID:20301779 More... NCBI chrNW_004936927:134,770...144,057 JBrowse link
G Rtel1 regulator of telomere elongation helicase 1 ISO DNA:nonsense mutation, missense mutation:cds:c.C2920T:p.R974X, c.G1476T:p.M492I (human) RGD PMID:23959892 RGD:152977765 NCBI chrNW_004936514:10,920,979...10,954,483
Ensembl chrNW_004936514:10,922,322...10,954,402 		JBrowse link
G Tert telomerase reverse transcriptase ISO ClinVar Annotator: match by term: Growth retardation prenatal with progressive pancytopenia and cerebellar hypoplasia ClinVar PMID:20502709 PMID:25741868 PMID:28492532 PMID:34890115 NCBI chrNW_004936815:468,987...492,666
Ensembl chrNW_004936815:469,020...491,697 		JBrowse link
G Tinf2 TERF1 interacting nuclear factor 2 ISO ClinVar Annotator: match by term: Hoyeraal-Hreidarsson syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936722:320,171...323,703
Ensembl chrNW_004936722:320,917...324,492 		JBrowse link
infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Med17 mediator complex subunit 17 ISO ClinVar Annotator: match by term: Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly | ClinVar Annotator: match by term: Microcephaly, postnatal progressive, with seizures and brain atrophy OMIM
ClinVar		 PMID:18414213 PMID:20950787 PMID:25741868 PMID:26004231 PMID:26240385 More... NCBI chrNW_004936674:998,036...1,019,937
Ensembl chrNW_004936674:997,259...1,019,953 		JBrowse link
intellectual developmental disorder with abnormal behavior, microcephaly, and short stature term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pus7 pseudouridine synthase 7 ISO ClinVar Annotator: match by term: Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature OMIM
ClinVar		 PMID:25741868 PMID:25741916 PMID:28492532 PMID:30526862 PMID:30778726 More... NCBI chrNW_004936479:18,354,009...18,395,765
Ensembl chrNW_004936479:18,354,022...18,395,765 		JBrowse link
Intellectual Developmental Disorder with Autism and Macrocephaly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chd8 chromodomain helicase DNA binding protein 8 ISO ClinVar Annotator: match by term: CHD8-related condition | ClinVar Annotator: match by term: Intellectual developmental disorder with autism and macrocephaly OMIM
ClinVar		 PMID:18414213 PMID:22495309 PMID:23160955 PMID:24998929 PMID:25326635 More... NCBI chrNW_004936880:546,250...608,061
Ensembl chrNW_004936880:546,236...608,080 		JBrowse link
Intellectual Developmental Disorder with Behavioral Abnormalities and Craniofacial Dysmorphism with or without Seizures term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Phf21a PHD finger protein 21A ISO ClinVar Annotator: match by term: Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures | ClinVar Annotator: match by term: PHF21A-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:30487643 PMID:31649809 NCBI chrNW_004936562:2,920,254...3,093,444
Ensembl chrNW_004936562:2,920,316...3,093,556 		JBrowse link
Intellectual Developmental Disorder with Macrocephaly, Seizures, and Speech Delay term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ntng2 netrin G2 ISO ClinVar Annotator: match by term: Intellectual developmental disorder with macrocephaly, seizures, and speech delay ClinVar PMID:25741868 NCBI chrNW_004936487:18,779,470...18,838,245
Ensembl chrNW_004936487:18,783,058...18,837,481 		JBrowse link
G Pak1 p21 (RAC1) activated kinase 1 ISO ClinVar Annotator: match by term: Intellectual developmental disorder with macrocephaly, seizures, and speech delay | ClinVar Annotator: match by term: PAK1-related condition | ClinVar Annotator: match by term: PAK1-related neurodevelopmental disorders OMIM
ClinVar		 PMID:10975528 PMID:25741868 PMID:28492532 PMID:30290153 PMID:31504246 More... NCBI chrNW_004936498:6,001,126...6,135,663
Ensembl chrNW_004936498:6,001,014...6,086,614 		JBrowse link
Juberg Hayward Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Esco2 establishment of sister chromatid cohesion N-acetyltransferase 2 ISO ClinVar Annotator: match by term: Juberg-Hayward syndrome OMIM
ClinVar		 PMID:18414213 PMID:20301332 PMID:25741868 PMID:28492532 PMID:32255174 More... NCBI chrNW_004936675:670,915...697,696
Ensembl chrNW_004936675:670,915...697,668 		JBrowse link
G Flna filamin A ISO ClinVar Annotator: match by term: Cranio-oro-digital syndrome | ClinVar Annotator: match by term: Juberg-Hayward syndrome ClinVar PMID:3265608 PMID:6019437 PMID:9071288 PMID:9536098 PMID:10982489 More... NCBI chrNW_004936809:1,097,288...1,123,206
Ensembl chrNW_004936809:1,097,294...1,123,201 		JBrowse link
G Hcfc1 host cell factor C1 ISO ClinVar Annotator: match by term: Cranio-oro-digital syndrome ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chrNW_004936809:827,008...853,689
Ensembl chrNW_004936809:827,031...853,644 		JBrowse link
G Irak1 interleukin 1 receptor associated kinase 1 ISO ClinVar Annotator: match by term: Cranio-oro-digital syndrome ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chrNW_004936809:891,407...900,311
Ensembl chrNW_004936809:890,717...900,326 		JBrowse link
G Mecp2 methyl-CpG binding protein 2 ISO ClinVar Annotator: match by term: Cranio-oro-digital syndrome ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chrNW_004936809:902,938...967,771
Ensembl chrNW_004936809:911,764...966,839 		JBrowse link
G Naa10 N-alpha-acetyltransferase 10, NatA catalytic subunit ISO ClinVar Annotator: match by term: Cranio-oro-digital syndrome ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chrNW_004936809:812,454...817,226
Ensembl chrNW_004936809:812,390...817,288 		JBrowse link
G Renbp renin binding protein ISO ClinVar Annotator: match by term: Cranio-oro-digital syndrome ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chrNW_004936809:817,392...823,926
Ensembl chrNW_004936809:817,355...823,941 		JBrowse link
G Tex28 testis expressed 28 ISO ClinVar Annotator: match by term: Cranio-oro-digital syndrome ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chrNW_004936809:1,022,795...1,042,475
Ensembl chrNW_004936809:1,022,795...1,040,120 		JBrowse link
G Tktl1 transketolase like 1 ISO ClinVar Annotator: match by term: Cranio-oro-digital syndrome ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chrNW_004936809:1,048,672...1,084,125
Ensembl chrNW_004936809:1,048,672...1,083,994 		JBrowse link
Kaufman oculocerebrofacial syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ube3b ubiquitin protein ligase E3B ISO ClinVar Annotator: match by term: Blepharophimosis-ptosis-intellectual disability syndrome | ClinVar Annotator: match by term: Oculocerebrofacial syndrome, Kaufman type OMIM
ClinVar		 PMID:1694631 PMID:9536098 PMID:14556252 PMID:16199547 PMID:17576681 More... NCBI chrNW_004936769:1,197,596...1,248,173
Ensembl chrNW_004936769:1,197,588...1,248,200 		JBrowse link
Kniest Like Dysplasia Lethal term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hspg2 heparan sulfate proteoglycan 2 ISO ClinVar Annotator: match by term: Lethal Kniest-like syndrome ClinVar PMID:9536098 PMID:11279527 PMID:16199547 PMID:16927315 PMID:17576681 More... NCBI chrNW_004936474:7,407,622...7,478,950
Ensembl chrNW_004936474:7,408,518...7,467,851 		JBrowse link
G Ldlrad2 low density lipoprotein receptor class A domain containing 2 ISO ClinVar Annotator: match by term: Lethal Kniest-like syndrome ClinVar PMID:25504735 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chrNW_004936474:7,375,439...7,407,318 JBrowse link
LEUKODYSTROPHY AND ACQUIRED MICROCEPHALY WITH OR WITHOUT DYSTONIA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dll3 delta like canonical Notch ligand 3 ISO ClinVar Annotator: match by term: Leukodystrophy and acquired microcephaly with or without dystonia ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936661:2,322,531...2,330,150
Ensembl chrNW_004936661:2,322,531...2,329,953 		JBrowse link
G Plekhg2 pleckstrin homology and RhoGEF domain containing G2 ISO ClinVar Annotator: match by term: Leukodystrophy and acquired microcephaly with or without dystonia OMIM
ClinVar		 PMID:25741868 PMID:26573021 PMID:28492532 PMID:34326120 NCBI chrNW_004936661:2,257,097...2,268,301
Ensembl chrNW_004936661:2,257,068...2,268,716 		JBrowse link
linear skin defects with multiple congenital anomalies 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC101967130 cytochrome c oxidase subunit 7B, mitochondrial ISO ClinVar Annotator: match by term: Linear skin defects with multiple congenital anomalies 2 OMIM
ClinVar		 PMID:9747372 PMID:23122588 PMID:25741868 PMID:28492532 NCBI chrNW_004936683:2,781,614...2,787,570
Ensembl chrNW_004936683:2,781,623...2,787,570 		JBrowse link
lissencephaly 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aipl1 aryl hydrocarbon receptor interacting protein like 1 ISO ClinVar Annotator: match by term: Lissencephaly due to TUBA1A mutation ClinVar PMID:10873396 PMID:22412862 PMID:25741868 PMID:28492532 NCBI chrNW_004936677:1,539,502...1,548,343
Ensembl chrNW_004936677:1,538,874...1,548,010 		JBrowse link
G LOC101972766 tubulin alpha-1A chain ISO ClinVar Annotator: match by term: Lissencephaly due to TUBA1A mutation | ClinVar Annotator: match by term: Lissencephaly type 3 | ClinVar Annotator: match by term: TUBA1A-associated tubulinopathy | ClinVar Annotator: match by term: TUBA1A-related condition | ClinVar Annotator: match by term: Tubulinopathies | ClinVar Annotator: match by term: Tubulinopathy-associated dysgyria OMIM
ClinVar		 PMID:17218254 PMID:17584854 PMID:18199681 PMID:18414213 PMID:18669490 More... NCBI chrNW_004936512:6,959,656...6,964,299
Ensembl chrNW_004936512:6,958,985...6,964,299 		JBrowse link
G Nkx2-5 NK2 homeobox 5 ISO ClinVar Annotator: match by term: Lissencephaly due to TUBA1A mutation ClinVar PMID:18414213 PMID:18976153 PMID:19181906 PMID:19464101 PMID:20981092 More... NCBI chrNW_004936609:2,406,004...2,408,980
Ensembl chrNW_004936609:2,406,004...2,409,046 		JBrowse link
lissencephaly 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myh11 myosin heavy chain 11 ISO ClinVar Annotator: match by term: Lissencephaly 4 | ClinVar Annotator: match by term: Lissencephaly 4 (with microcephaly) ClinVar PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chrNW_004936501:3,223,057...3,313,487
Ensembl chrNW_004936501:3,222,300...3,313,610 		JBrowse link
G Nde1 nudE neurodevelopment protein 1 ISO ClinVar Annotator: match by term: Lissencephaly 4 | ClinVar Annotator: match by term: Lissencephaly 4 (with microcephaly) OMIM
ClinVar		 PMID:18414213 PMID:21529751 PMID:21529752 PMID:24033266 PMID:25326635 More... NCBI chrNW_004936501:3,193,962...3,234,640
Ensembl chrNW_004936501:3,193,916...3,221,700 		JBrowse link
lissencephaly 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Katnb1 katanin regulatory subunit B1 ISO ClinVar Annotator: match by term: KATNB1-related condition | ClinVar Annotator: match by term: Lissencephaly 6 with microcephaly OMIM
ClinVar		 PMID:25521378 PMID:25521379 PMID:25741868 PMID:28492532 NCBI chrNW_004936475:9,737,974...9,757,614
Ensembl chrNW_004936475:9,738,195...9,757,614 		JBrowse link
Lowry Wood Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clasp1 cytoplasmic linker associated protein 1 ISO ClinVar Annotator: match by term: Epiphyseal dysplasia, microcephaly and nystagmus | ClinVar Annotator: match by term: Lowry-Wood syndrome ClinVar PMID:10189087 PMID:12605445 PMID:19288552 PMID:21474760 PMID:21474761 More... NCBI chrNW_004936469:49,067,357...49,335,212
Ensembl chrNW_004936469:49,067,012...49,335,219 		JBrowse link
Luscan-Lumish Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kif9 kinesin family member 9 ISO ClinVar Annotator: match by term: Luscan-Lumish syndrome ClinVar PMID:28492532 NCBI chrNW_004936596:952,028...1,010,889 JBrowse link
G Klhl18 kelch like family member 18 ISO ClinVar Annotator: match by term: Luscan-Lumish syndrome ClinVar PMID:28492532 NCBI chrNW_004936596:1,010,963...1,063,539
Ensembl chrNW_004936596:1,010,880...1,063,518 		JBrowse link
G Ptpn23 protein tyrosine phosphatase non-receptor type 23 ISO ClinVar Annotator: match by term: Luscan-Lumish syndrome ClinVar PMID:28492532 NCBI chrNW_004936596:1,094,285...1,124,483
Ensembl chrNW_004936596:1,094,205...1,124,712 		JBrowse link
G Setd2 SET domain containing 2, histone lysine methyltransferase ISO ClinVar Annotator: match by term: Luscan-Lumish syndrome | ClinVar Annotator: match by term: Luscan-lumish syndrome OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:20864444 PMID:22495309 PMID:23160955 More... NCBI chrNW_004936596:795,940...898,823
Ensembl chrNW_004936596:796,601...883,373 		JBrowse link
Macrocephaly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc8 ATP binding cassette subfamily C member 8 ISO ClinVar Annotator: match by term: Macrocephaly ClinVar PMID:16613899 PMID:16885549 PMID:18025408 PMID:18981553 PMID:21989597 More... NCBI chrNW_004936528:1,608,782...1,682,873
Ensembl chrNW_004936528:1,608,757...1,682,975 		JBrowse link
G Abcc9 ATP binding cassette subfamily C member 9 ISO ClinVar Annotator: match by term: Macrocephaly ClinVar PMID:22608503 PMID:22610116 PMID:23307537 PMID:25741868 PMID:25790160 More... NCBI chrNW_004936548:4,983,461...5,110,693
Ensembl chrNW_004936548:4,987,847...5,108,104 		JBrowse link
G Akt3 AKT serine/threonine kinase 3 ISO ClinVar Annotator: match by term: Macrocephaly ClinVar PMID:22729224 PMID:23745724 PMID:24705253 PMID:25741868 PMID:28492532 More... NCBI chrNW_004936526:6,944,056...7,201,226
Ensembl chrNW_004936526:6,944,005...7,200,583 		JBrowse link
G Ccnd2 cyclin D2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29642246 NCBI chrNW_004936606:4,474,801...4,496,158
Ensembl chrNW_004936606:4,474,749...4,496,810 		JBrowse link
G Chd8 chromodomain helicase DNA binding protein 8 ISO ClinVar Annotator: match by term: Macrocephaly ClinVar PMID:25741868 PMID:32267004 NCBI chrNW_004936880:546,250...608,061
Ensembl chrNW_004936880:546,236...608,080 		JBrowse link
G Col11a2 collagen type XI alpha 2 chain ISO ClinVar Annotator: match by term: Macrocephaly ClinVar PMID:24033266 PMID:28492532 NCBI chrNW_004936476:25,663,563...25,692,315
Ensembl chrNW_004936476:25,663,755...25,691,344 		JBrowse link
G Erf ETS2 repressor factor ISO ClinVar Annotator: match by term: Macrocephaly ClinVar NCBI chrNW_004936706:255,479...263,154
Ensembl chrNW_004936706:255,407...263,179 		JBrowse link
G Fibp FGF1 intracellular binding protein ISO ClinVar Annotator: match by term: Macrocephaly ClinVar PMID:26660953 NCBI chrNW_004936599:3,652,889...3,657,171
Ensembl chrNW_004936599:3,652,839...3,660,645 		JBrowse link
G Foxo4 forkhead box O4 ISO ClinVar Annotator: match by term: Macrocephaly ClinVar PMID:25741868 NCBI chrNW_004936762:495,271...501,278
Ensembl chrNW_004936762:493,910...501,531 		JBrowse link
G Grin1 glutamate ionotropic receptor NMDA type subunit 1 ISO ClinVar Annotator: match by term: Macrocephaly ClinVar PMID:25741868 PMID:27159321 PMID:28492532 PMID:30755392 NCBI chrNW_004936669:814,330...838,881
Ensembl chrNW_004936669:814,330...839,208 		JBrowse link
G Gsk3a glycogen synthase kinase 3 alpha ISO ClinVar Annotator: match by term: Macrocephaly ClinVar NCBI chrNW_004936706:266,462...277,256
Ensembl chrNW_004936706:269,126...277,256 		JBrowse link
G Kcna6 potassium voltage-gated channel subfamily A member 6 ISO ClinVar Annotator: match by term: Macrocephaly ClinVar PMID:25741868 NCBI chrNW_004936606:4,969,282...4,972,383
Ensembl chrNW_004936606:4,969,787...4,971,446 		JBrowse link
G LOC101974150 WD repeat and FYVE domain-containing protein 3 ISO ClinVar Annotator: match by term: Macrocephaly ClinVar PMID:25741868 PMID:31327001 NCBI chrNW_004936738:31,426...150,463
Ensembl chrNW_004936738:1,841...147,264 		JBrowse link
G Map1b microtubule associated protein 1B ISO ClinVar Annotator: match by term: Macrocephaly ClinVar PMID:25741868 NCBI chrNW_004936549:4,266,371...4,371,579
Ensembl chrNW_004936549:4,266,351...4,371,644 		JBrowse link
G Mefv MEFV innate immunity regulator, pyrin ISO ClinVar Annotator: match by term: Macrocephaly ClinVar PMID:9288094 PMID:9288758 PMID:9781020 PMID:10364520 PMID:10787449 More... NCBI chrNW_004936694:970,706...980,605 JBrowse link
G Morc4 MORC family CW-type zinc finger 4 ISO ClinVar Annotator: match by term: Macrocephaly ClinVar PMID:25741868 NCBI chrNW_004936499:7,755,405...7,811,718
Ensembl chrNW_004936499:7,755,368...7,811,282 		JBrowse link
G Mtor mechanistic target of rapamycin kinase ISO ClinVar Annotator: match by term: Macrocephaly ClinVar PMID:25741868 PMID:28492532 PMID:33077954 PMID:34197453 NCBI chrNW_004936474:158,376...282,310
Ensembl chrNW_004936474:157,590...282,342 		JBrowse link
G Nfia nuclear factor I A ISO ClinVar Annotator: match by term: Macrocephaly ClinVar NCBI chrNW_004936522:612,357...1,171,079
Ensembl chrNW_004936522:615,012...957,282 		JBrowse link
G Nfib nuclear factor I B ISO ClinVar Annotator: match by term: Macrocephaly ClinVar PMID:25741868 PMID:30388402 NCBI chrNW_004936539:7,763,036...8,185,001
Ensembl chrNW_004936539:7,769,413...7,985,316 		JBrowse link
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha ISO ClinVar Annotator: match by term: Megalencephaly, autosomal dominant ClinVar PMID:25741868 PMID:26619011 PMID:27631024 PMID:28492532 PMID:31568861 NCBI chrNW_004936566:3,924,013...3,951,052
Ensembl chrNW_004936566:3,923,934...3,951,073 		JBrowse link
G Ptch1 patched 1 ISO ClinVar Annotator: match by term: Macrocephaly ClinVar PMID:25741868 NCBI chrNW_004936626:4,241,993...4,301,919
Ensembl chrNW_004936626:4,241,908...4,309,476 		JBrowse link
G Pten phosphatase and tensin homolog ISO ClinVar Annotator: match by term: Macrocephaly ClinVar PMID:10772390 PMID:21828076 PMID:25741868 PMID:28492532 NCBI chrNW_004936735:1,252,414...1,338,318
Ensembl chrNW_004936735:1,252,414...1,338,323 		JBrowse link
G Rab5if RAB5 interacting factor ISO ClinVar Annotator: match by term: Macrocephaly ClinVar PMID:24194475 PMID:35614220 NCBI chrNW_004936561:4,428,499...4,439,786
Ensembl chrNW_004936561:4,428,231...4,439,897 		JBrowse link
G Slc25a22 solute carrier family 25 member 22 ISO ClinVar Annotator: match by term: Macrocephaly ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936888:558,064...565,576
Ensembl chrNW_004936888:558,045...565,782 		JBrowse link
G Tbc1d7 TBC1 domain family member 7 ISO ClinVar Annotator: match by term: Macrocephaly ClinVar NCBI chrNW_004936534:8,104...17,056
Ensembl chrNW_004936534:8,281...27,544 		JBrowse link
G Trit1 tRNA isopentenyltransferase 1 ISO ClinVar Annotator: match by term: Macrocephaly ClinVar PMID:25741868 PMID:30977854 PMID:36047296 NCBI chrNW_004936474:21,689,411...21,739,770
Ensembl chrNW_004936474:21,689,363...21,739,857 		JBrowse link
G Usp7 ubiquitin specific peptidase 7 ISO ClinVar Annotator: match by term: Macrocephaly ClinVar PMID:25741868 NCBI chrNW_004936530:7,693,681...7,724,215
Ensembl chrNW_004936530:7,694,379...7,724,684 		JBrowse link
G Znf526 zinc finger protein 526 ISO ClinVar Annotator: match by term: Macrocephaly ClinVar NCBI chrNW_004936706:278,730...284,232
Ensembl chrNW_004936706:280,075...282,078 		JBrowse link
Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kif7 kinesin family member 7 ISO ClinVar Annotator: match by term: Macrocephaly with multiple epiphyseal dysplasia and distinctive facies OMIM
ClinVar		 PMID:9689990 PMID:21552264 PMID:22587682 PMID:25741868 PMID:28492532 NCBI chrNW_004936483:15,430,735...15,450,872
Ensembl chrNW_004936483:15,431,470...15,449,067 		JBrowse link
MACROCEPHALY, ACQUIRED, WITH IMPAIRED INTELLECTUAL DEVELOPMENT term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nfib nuclear factor I B ISO ClinVar Annotator: match by term: Macrocephaly, acquired, with impaired intellectual development OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:30388402 NCBI chrNW_004936539:7,763,036...8,185,001
Ensembl chrNW_004936539:7,769,413...7,985,316 		JBrowse link
Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rin2 Ras and Rab interactor 2 ISO ClinVar Annotator: match by term: Macrocephaly, alopecia, cutis laxa, and scoliosis | ClinVar Annotator: match by term: RIN2-related condition | ClinVar Annotator: match by term: TALL FOREHEAD, SPARSE HAIR, SKIN HYPEREXTENSIBILITY, AND SCOLIOSIS OMIM
ClinVar		 PMID:19631308 PMID:20424861 PMID:20954239 PMID:24449201 PMID:25741868 More... NCBI chrNW_004936485:377,562...556,611
Ensembl chrNW_004936485:377,396...556,616 		JBrowse link
Macrocephaly, Dysmorphic Facies, and Psychomotor Retardation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Erc1 ELKS/RAB6-interacting/CAST family member 1 ISO ClinVar Annotator: match by term: Macrocephaly, dysmorphic facies, and psychomotor retardation ClinVar PMID:25741868 NCBI chrNW_004936606:1,201,420...1,713,894
Ensembl chrNW_004936606:1,201,657...1,708,551 		JBrowse link
G Herc1 HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 ISO ClinVar Annotator: match by term: Macrocephaly, dysmorphic facies, and psychomotor retardation OMIM
ClinVar		 PMID:25741868 PMID:26138117 PMID:26153217 PMID:27108999 PMID:28492532 More... NCBI chrNW_004936471:24,142,227...24,330,966
Ensembl chrNW_004936471:24,141,928...24,330,967 		JBrowse link
MACROCEPHALY, NEURODEVELOPMENTAL DELAY, LYMPHOID HYPERPLASIA, AND PERSISTENT FETAL HEMOGLOBIN term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zbtb7a zinc finger and BTB domain containing 7A ISO ClinVar Annotator: match by term: Macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin OMIM
ClinVar		 PMID:25741868 PMID:31645653 PMID:34515416 NCBI chrNW_004936588:2,310,975...2,321,790
Ensembl chrNW_004936588:2,311,727...2,321,372 		JBrowse link
macrocephaly-autism syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pten phosphatase and tensin homolog ISO ClinVar Annotator: match by term: Macrocephaly-autism syndrome | ClinVar Annotator: match by term: Macrocephaly/autism syndrome OMIM
ClinVar		 PMID:1336932 PMID:2338203 PMID:9140396 PMID:9241266 PMID:9259288 More... NCBI chrNW_004936735:1,252,414...1,338,318
Ensembl chrNW_004936735:1,252,414...1,338,323 		JBrowse link
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tbc1d7 TBC1 domain family member 7 ISO ClinVar Annotator: match by term: Macrocephaly/megalencephaly syndrome, autosomal recessive ClinVar PMID:23687350 PMID:24515783 PMID:25741868 PMID:28492532 NCBI chrNW_004936534:8,104...17,056
Ensembl chrNW_004936534:8,281...27,544 		JBrowse link
mandibulofacial dysostosis, Guion-Almeida type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eftud2 elongation factor Tu GTP binding domain containing 2 ISO ClinVar Annotator: match by term: EFTUD2-related condition | ClinVar Annotator: match by term: Mandibulofacial dysostosis-microcephaly syndrome OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:16760738 PMID:17576681 PMID:19334086 More... NCBI chrNW_004936541:1,216,584...1,259,355
Ensembl chrNW_004936541:1,217,138...1,257,935 		JBrowse link
Megalencephaly - Cutis Marmorata Telangiectatica Congenita term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akt3 AKT serine/threonine kinase 3 ISO ClinVar Annotator: match by term: Megalencephaly-capillary malformation-polymicrogyria syndrome ClinVar PMID:22729224 PMID:23745724 PMID:25416470 PMID:25523067 PMID:28086757 NCBI chrNW_004936526:6,944,056...7,201,226
Ensembl chrNW_004936526:6,944,005...7,200,583 		JBrowse link
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha ISO ClinVar Annotator: match by term: MACROCEPHALY-CAPILLARY MALFORMATION | ClinVar Annotator: match by term: Macrocephaly cutis marmorata telangiectatica congenita | ClinVar Annotator: match by term: Megalencephaly-capillary malformation-polymicrogyria syndrome | ClinVar Annotator: match by term: PIK3CA related overgrowth spectrum OMIM
ClinVar		 PMID:15016963 PMID:15254419 PMID:15520168 PMID:15608678 PMID:15647370 More... NCBI chrNW_004936566:3,924,013...3,951,052
Ensembl chrNW_004936566:3,923,934...3,951,073 		JBrowse link
G Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 ISO ClinVar Annotator: match by term: Vascular Malformations and Overgrowth ClinVar PMID:19962457 PMID:25157968 PMID:25741868 PMID:26619011 PMID:34040190 NCBI chrNW_004936480:1,188,408...1,273,210
Ensembl chrNW_004936480:1,188,183...1,273,537 		JBrowse link
G Pik3r2 phosphoinositide-3-kinase regulatory subunit 2 ISO ClinVar Annotator: match by term: Macrocephaly cutis marmorata telangiectatica congenita ClinVar PMID:16357568 PMID:21984976 PMID:22729224 PMID:24497998 PMID:25741868 More... NCBI chrNW_004936596:3,010,526...3,021,848
Ensembl chrNW_004936596:3,010,488...3,021,920 		JBrowse link
G Rit1 Ras like without CAAX 1 ISO ClinVar Annotator: match by term: MACROCEPHALY-CAPILLARY MALFORMATION ClinVar PMID:24469055 PMID:25741868 PMID:28492532 NCBI chrNW_004936580:5,157,351...5,166,790
Ensembl chrNW_004936580:5,156,565...5,167,040 		JBrowse link
Megalencephaly with Thick Corpus Callosum, Cerebellar Atrophy, and Intellectual Disability term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Herc1 HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 ISO ClinVar Annotator: match by term: Megalencephaly with thick corpus callosum, cerebellar atrophy, and intellectual disability ClinVar PMID:26153217 PMID:27108999 NCBI chrNW_004936471:24,142,227...24,330,966
Ensembl chrNW_004936471:24,141,928...24,330,967 		JBrowse link
Megalencephaly-Polydactyly Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mycn MYCN proto-oncogene, bHLH transcription factor ISO ClinVar Annotator: match by term: Megalencephaly-polydactyly syndrome OMIM
ClinVar		 PMID:25741868 PMID:30573562 PMID:37710961 NCBI chrNW_004936493:14,618,176...14,624,201
Ensembl chrNW_004936493:14,618,060...14,624,315 		JBrowse link
MEHMO syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eif2s3 eukaryotic translation initiation factor 2 subunit gamma ISO ClinVar Annotator: match by term: MEHMO syndrome OMIM
ClinVar		 PMID:23063529 PMID:25741868 PMID:25741869 PMID:27333055 PMID:28055140 NCBI chrNW_004936624:516,206...535,749
Ensembl chrNW_004936624:515,864...535,981 		JBrowse link
Microcephalic Osteodysplastic Primordial Dwarfism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pcnt pericentrin ISO ClinVar Annotator: match by term: Microcephalic osteodysplastic primordial dwarfism ClinVar PMID:18414213 PMID:25741868 PMID:28492532 NCBI chrNW_004936778:149,844...248,905
Ensembl chrNW_004936778:149,177...247,357 		JBrowse link
microcephalic osteodysplastic primordial dwarfism type I term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clasp1 cytoplasmic linker associated protein 1 ISO ClinVar Annotator: match by term: Low-birth-weight dwarfism with skeletal dysplasia | ClinVar Annotator: match by term: Microcephalic Osteodysplastic Primordial Dwarfism, Type I | ClinVar Annotator: match by term: Osteodysplastic primordial dwarfism, type 1 ClinVar PMID:10189087 PMID:12409455 PMID:12605445 PMID:21474760 PMID:21474761 More... NCBI chrNW_004936469:49,067,357...49,335,212
Ensembl chrNW_004936469:49,067,012...49,335,219 		JBrowse link
G LOC101972165 myosin-7 ISO ClinVar Annotator: match by term: Microcephalic Osteodysplastic Primordial Dwarfism, Type I ClinVar PMID:22958901 PMID:24111713 PMID:25741868 PMID:28492532 PMID:28798025 More... NCBI chrNW_004936722:967,443...991,530
Ensembl chrNW_004936722:969,384...991,129 		JBrowse link
microcephalic osteodysplastic primordial dwarfism type II term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pcnt pericentrin ISO ClinVar Annotator: match by term: Microcephalic osteodysplastic primordial dwarfism type II | ClinVar Annotator: match by term: PCNT-related condition OMIM
ClinVar		 PMID:9536098 PMID:12210304 PMID:15372530 PMID:16199547 PMID:17576681 More... NCBI chrNW_004936778:149,844...248,905
Ensembl chrNW_004936778:149,177...247,357 		JBrowse link
microcephaly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aaas aladin WD repeat nucleoporin ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chrNW_004936512:10,589,549...10,604,831
Ensembl chrNW_004936512:10,588,786...10,604,861 		JBrowse link
G Abl1 ABL proto-oncogene 1, non-receptor tyrosine kinase ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:33223528 NCBI chrNW_004936487:17,690,206...17,819,619
Ensembl chrNW_004936487:17,690,968...17,819,669 		JBrowse link
G Acadsb acyl-CoA dehydrogenase short/branched chain ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chrNW_004936486:11,668,099...11,707,946
Ensembl chrNW_004936486:11,668,099...11,711,786 		JBrowse link
G Actg1 actin gamma 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chrNW_004936594:5,170,711...5,173,251
Ensembl chrNW_004936594:5,170,711...5,173,247 		JBrowse link
G Adar adenosine deaminase RNA specific ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chrNW_004936580:4,183,016...4,208,341
Ensembl chrNW_004936580:4,183,079...4,203,435 		JBrowse link
G Adarb1 adenosine deaminase RNA specific B1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chrNW_004936778:1,056,259...1,137,772
Ensembl chrNW_004936778:1,053,871...1,137,828 		JBrowse link
G Adat3 adenosine deaminase tRNA specific 3 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chrNW_004936588:1,108,790...1,111,287 JBrowse link
G Add3 adducin 3 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chrNW_004936486:928,956...1,042,168
Ensembl chrNW_004936486:928,522...1,043,084 		JBrowse link
G Adgrl2 adhesion G protein-coupled receptor L2 ISO RGD PMID:30340542 RGD:13838661 NCBI chrNW_004936608:3,465,889...3,678,575
Ensembl chrNW_004936608:3,463,806...3,678,560 		JBrowse link
G Adnp activity dependent neuroprotector homeobox ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chrNW_004936514:3,855,113...3,883,036
Ensembl chrNW_004936514:3,855,672...3,885,718 		JBrowse link
G Agt angiotensinogen ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chrNW_004936484:19,713,299...19,721,144
Ensembl chrNW_004936484:19,716,165...19,721,261 		JBrowse link
G Alg13 ALG13 UDP-N-acetylglucosaminyltransferase subunit ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:23033978 PMID:23934111 PMID:24781210 PMID:24896178 PMID:25732998 More... NCBI chrNW_004936499:3,558,273...3,629,570
Ensembl chrNW_004936499:3,558,236...3,629,592 		JBrowse link
G Aloxe3 arachidonate lipoxygenase 3 ISO ClinVar Annotator: match by term: Progressive microcephaly ClinVar PMID:25741868 NCBI chrNW_004936595:1,329,492...1,350,914
Ensembl chrNW_004936595:1,329,435...1,350,923 		JBrowse link
G Alpl alkaline phosphatase, biomineralization associated ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:9452105 PMID:11760847 PMID:12162492 PMID:18455459 PMID:18769927 More... NCBI chrNW_004936474:7,209,196...7,229,899
Ensembl chrNW_004936474:7,209,093...7,229,989 		JBrowse link
G Als2 alsin Rho guanine nucleotide exchange factor ALS2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936726:940,696...1,015,771
Ensembl chrNW_004936726:939,341...1,015,799 		JBrowse link
G Ampd2 adenosine monophosphate deaminase 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chrNW_004936704:1,092,180...1,111,722
Ensembl chrNW_004936704:1,099,816...1,113,887 		JBrowse link
G Ank1 ankyrin 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chrNW_004936785:738,323...944,734
Ensembl chrNW_004936785:738,317...942,381 		JBrowse link
G Ankle2 ankyrin repeat and LEM domain containing 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:23806086 PMID:24088041 PMID:25259927 NCBI chrNW_004936660:2,647,071...2,668,060
Ensembl chrNW_004936660:2,648,485...2,666,148 		JBrowse link
G Ap3b2 adaptor related protein complex 3 subunit beta 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chrNW_004936483:17,301,969...17,336,962
Ensembl chrNW_004936483:17,298,291...17,337,578 		JBrowse link
G Ap4m1 adaptor related protein complex 4 subunit mu 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:24700674 PMID:25558065 PMID:25741868 PMID:25741915 PMID:32979048 NCBI chrNW_004936543:246,335...250,278
Ensembl chrNW_004936543:246,335...254,975 		JBrowse link
G Arcn1 archain 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chrNW_004936542:3,605,553...3,634,889
Ensembl chrNW_004936542:3,617,051...3,633,132 		JBrowse link
G Arfgef2 ADP ribosylation factor guanine nucleotide exchange factor 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936514:5,172,752...5,262,823
Ensembl chrNW_004936514:5,172,584...5,262,836 		JBrowse link
G Arhgef2 Rho/Rac guanine nucleotide exchange factor 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chrNW_004936580:5,213,323...5,230,861
Ensembl chrNW_004936580:5,214,401...5,245,021 		JBrowse link
G Arid1a AT-rich interaction domain 1A ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936474:11,148,857...11,197,312 JBrowse link
G Arid1b AT-rich interaction domain 1B ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chrNW_004936489:8,811,094...9,202,423
Ensembl chrNW_004936489:9,087,697...9,205,203 		JBrowse link
G Arid2 AT-rich interaction domain 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:24728327 PMID:25741868 PMID:28492532 NCBI chrNW_004936512:4,020,303...4,199,390
Ensembl chrNW_004936512:4,020,966...4,196,459 		JBrowse link
G Arvcf ARVCF delta catenin family member ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chrNW_004936619:3,884,450...3,934,559
Ensembl chrNW_004936619:3,884,783...3,928,769 		JBrowse link
G Asf1a anti-silencing function 1A histone chaperone ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:24824130 NCBI chrNW_004936658:1,699,150...1,713,079
Ensembl chrNW_004936658:1,699,044...1,715,582 		JBrowse link
G Aspm assembly factor for spindle microtubules treatment
susceptibility		 ISO ClinVar Annotator: match by term: Microcephaly | ClinVar Annotator: match by term: Primary Microcephaly, Recessive RGD
ClinVar		 PMID:16141009 PMID:19028728 PMID:20301772 PMID:20679666 PMID:20823249 More... RGD:13439744 RGD:1599300 NCBI chrNW_004936567:6,653,382...6,701,856
Ensembl chrNW_004936567:6,653,728...6,701,752 		JBrowse link
G Asxl1 ASXL transcriptional regulator 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chrNW_004936485:19,218,494...19,297,188
Ensembl chrNW_004936485:19,227,400...19,298,912 		JBrowse link
G Atm ATM serine/threonine kinase ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:19781682 PMID:25741868 PMID:28492532 PMID:30287823 PMID:31871109 More... NCBI chrNW_004936551:359,134...534,672
Ensembl chrNW_004936551:359,362...532,211 		JBrowse link
G Atpaf2 ATP synthase mitochondrial F1 complex assembly factor 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chrNW_004936741:1,596,520...1,614,095
Ensembl chrNW_004936741:1,593,596...1,614,138 		JBrowse link
G Atr ATR serine/threonine kinase ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936540:4,074,543...4,178,859
Ensembl chrNW_004936540:4,074,570...4,178,898 		JBrowse link
G Atrx ATRX chromatin remodeler ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:7697714 PMID:24690944 PMID:25741868 PMID:28371217 PMID:28492532 NCBI chrNW_004936683:2,496,307...2,718,539
Ensembl chrNW_004936683:2,495,959...2,718,620 		JBrowse link
G B3galnt2 beta-1,3-N-acetylgalactosaminyltransferase 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936484:17,012,403...17,049,519
Ensembl chrNW_004936484:17,012,537...17,049,511 		JBrowse link
G Bcap31 B cell receptor associated protein 31 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936809:582,689...614,800
Ensembl chrNW_004936809:582,649...615,079 		JBrowse link
G Bcl11b BCL11 transcription factor B ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chrNW_004936604:3,023,781...3,110,104
Ensembl chrNW_004936604:3,023,844...3,110,083 		JBrowse link
G Blm BLM RecQ like helicase ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:24728327 PMID:25741868 PMID:26467025 PMID:28492532 PMID:32566746 NCBI chrNW_004936483:16,194,092...16,295,803
Ensembl chrNW_004936483:16,194,092...16,255,905 		JBrowse link
G Bptf bromodomain PHD finger transcription factor ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chrNW_004936541:5,261,899...5,396,930
Ensembl chrNW_004936541:5,262,773...5,395,519 		JBrowse link
G Brd4 bromodomain containing 4 ISO ClinVar Annotator: match by term: Microcephaly ClinVar NCBI chrNW_004936596:5,176,682...5,246,102
Ensembl chrNW_004936596:5,177,147...5,246,518 		JBrowse link
G Bub1b BUB1 mitotic checkpoint serine/threonine kinase B ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936471:3,631,760...3,696,024
Ensembl chrNW_004936471:3,633,536...3,695,684 		JBrowse link
G Calhm4 calcium homeostasis modulator family member 4 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:24824130 NCBI chrNW_004936824:1,098,792...1,103,607
Ensembl chrNW_004936824:1,098,792...1,103,797 		JBrowse link
G Calhm5 calcium homeostasis modulator family member 5 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:24824130 NCBI chrNW_004936824:1,056,082...1,061,368
Ensembl chrNW_004936824:1,056,098...1,062,157 		JBrowse link
G Calhm6 calcium homeostasis modulator family member 6 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:24824130 NCBI chrNW_004936824:1,019,124...1,020,871
Ensembl chrNW_004936824:1,019,154...1,020,961 		JBrowse link
G Camk2b calcium/calmodulin dependent protein kinase II beta ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 PMID:29100089 PMID:30842224 PMID:31036916 More... NCBI chrNW_004936478:19,183,493...19,278,457
Ensembl chrNW_004936478:19,180,726...19,278,920 		JBrowse link
G Cars2 cysteinyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chrNW_004936472:2,144,407...2,180,431
Ensembl chrNW_004936472:2,144,335...2,180,392 		JBrowse link
G Cask calcium/calmodulin dependent serine protein kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:19165920 NCBI chrNW_004936502:7,933,312...8,281,492
Ensembl chrNW_004936502:7,937,146...8,281,492 		JBrowse link
G Cbl Cbl proto-oncogene ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chrNW_004936542:4,136,389...4,235,746
Ensembl chrNW_004936542:4,136,511...4,228,288 		JBrowse link
G Cc2d2a coiled-coil and C2 domain containing 2A ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936477:12,315,829...12,415,915
Ensembl chrNW_004936477:12,315,799...12,408,603 		JBrowse link
G Ccdc88a coiled-coil domain containing 88A ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chrNW_004936491:1,670,192...1,804,056
Ensembl chrNW_004936491:1,669,983...1,804,221 		JBrowse link
G Cdc45 cell division cycle 45 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936619:3,420,110...3,452,419
Ensembl chrNW_004936619:3,420,191...3,452,436 		JBrowse link
G Cdc6 cell division cycle 6 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936490:15,360,477...15,370,519
Ensembl chrNW_004936490:15,360,504...15,370,008 		JBrowse link
G Cdk19 cyclin dependent kinase 19 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chrNW_004936564:6,443,041...6,584,767
Ensembl chrNW_004936564:6,442,809...6,567,210 		JBrowse link
G Cdk5rap2 CDK5 regulatory subunit associated protein 2 ISO ClinVar Annotator: match by term: Microcephaly | ClinVar Annotator: match by term: Primary Microcephaly, Recessive ClinVar PMID:18414213 PMID:20301772 PMID:25741868 PMID:28492532 PMID:32581362 NCBI chrNW_004936487:8,900,375...9,081,547
Ensembl chrNW_004936487:8,900,530...9,081,527 		JBrowse link
G Cdon cell adhesion associated, oncogene regulated ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chrNW_004936572:6,176,267...6,268,885
Ensembl chrNW_004936572:6,176,255...6,272,260 		JBrowse link
G Cenpf centromere protein F ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chrNW_004936628:3,642,281...3,695,262
Ensembl chrNW_004936628:3,643,000...3,695,221 		JBrowse link
G Cenpj centromere protein J ISO ClinVar Annotator: match by term: Primary Microcephaly, Recessive ClinVar PMID:18414213 PMID:25741868 PMID:28492532 NCBI chrNW_004936720:2,149,296...2,201,599
Ensembl chrNW_004936720:2,149,302...2,204,139 		JBrowse link
G Cep152 centrosomal protein 152 ISO ClinVar Annotator: match by term: Primary Microcephaly, Recessive ClinVar NCBI chrNW_004936471:11,052,994...11,133,385
Ensembl chrNW_004936471:11,052,720...11,117,327 		JBrowse link
G Cep290 centrosomal protein 290 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936507:5,223,756...5,305,392
Ensembl chrNW_004936507:5,221,910...5,305,422 		JBrowse link
G Cep63 centrosomal protein 63 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21983783 NCBI chrNW_004936529:7,577,122...7,632,161
Ensembl chrNW_004936529:7,585,839...7,635,439 		JBrowse link
G Cep85l centrosomal protein 85 like ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:24824130 NCBI chrNW_004936658:1,351,968...1,490,861
Ensembl chrNW_004936658:1,352,264...1,491,079 		JBrowse link
G Cert1 ceramide transporter 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chrNW_004936549:1,261,913...1,368,743
Ensembl chrNW_004936549:1,261,931...1,371,380 		JBrowse link
G Cfap96 cilia and flagella associated protein 96 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:25741905 PMID:28492532 PMID:33473208 NCBI chrNW_004936554:3,908,570...3,925,957
Ensembl chrNW_004936554:3,908,413...3,925,942 		JBrowse link
G Chd2 chromodomain helicase DNA binding protein 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar NCBI chrNW_004936483:9,803,887...9,931,132
Ensembl chrNW_004936483:9,803,623...9,931,272 		JBrowse link
G Chd7 chromodomain helicase DNA binding protein 7 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chrNW_004936496:12,381,225...12,505,121
Ensembl chrNW_004936496:12,381,126...12,505,150 		JBrowse link
G Cit citron rho-interacting serine/threonine kinase ISO RGD PMID:10219263 RGD:13204836 NCBI chrNW_004936668:991,043...1,146,578
Ensembl chrNW_004936668:991,036...1,146,294 		JBrowse link
G Clasp1 cytoplasmic linker associated protein 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:26522830 PMID:28492532 PMID:28669401 PMID:32628740 NCBI chrNW_004936469:49,067,357...49,335,212
Ensembl chrNW_004936469:49,067,012...49,335,219 		JBrowse link
G Clcn4 chloride voltage-gated channel 4 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936470:142,862...214,993
Ensembl chrNW_004936470:142,832...212,154 		JBrowse link
G Col4a1 collagen type IV alpha 1 chain ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chrNW_004936472:2,416,043...2,543,561
Ensembl chrNW_004936472:2,416,566...2,542,814 		JBrowse link
G Col7a1 collagen type VII alpha 1 chain ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:12787275 PMID:22266148 PMID:25741868 PMID:28492532 PMID:28830826 More... NCBI chrNW_004936529:348,938...381,701 JBrowse link
G Copb2 COPI coat complex subunit beta 2 ISO OMIM:251200 | OMIM:604321 | OMIM:604804 | OMIM:608393 | OMIM:608716 | OMIM:612703 MouseDO NCBI chrNW_004936540:1,467,169...1,493,218
Ensembl chrNW_004936540:1,467,169...1,493,258 		JBrowse link
G Cpt2 carnitine palmitoyltransferase 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936522:7,858,172...7,875,679
Ensembl chrNW_004936522:7,856,087...7,875,685 		JBrowse link
G Cspp1 centrosome and spindle pole associated protein 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936496:6,915,840...7,036,205
Ensembl chrNW_004936496:6,915,281...7,034,124 		JBrowse link
G Cstb cystatin B ISO ClinVar Annotator: match by term: Microcephaly | ClinVar Annotator: match by term: Progressive microcephaly ClinVar PMID:8596935 PMID:9012407 PMID:9054946 PMID:9342192 PMID:9360639 More... NCBI chrNW_004936500:502,444...503,307
Ensembl chrNW_004936500:502,237...503,578 		JBrowse link
G Ctbp1 C-terminal binding protein 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chrNW_004936477:22,032,712...22,055,160
Ensembl chrNW_004936477:22,032,664...22,055,187 		JBrowse link
G Dcbld1 discoidin, CUB and LCCL domain containing 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:24824130 NCBI chrNW_004936658:547,245...606,540
Ensembl chrNW_004936658:547,074...607,637 		JBrowse link
G Ddx11 DEAD/H-box helicase 11 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chrNW_004936606:181,457...209,286
Ensembl chrNW_004936606:186,223...208,499 		JBrowse link
G Diaph1 diaphanous related formin 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:24781755 PMID:25558065 PMID:25741868 PMID:25741916 PMID:28492532 NCBI chrNW_004936504:12,548,452...12,645,236
Ensembl chrNW_004936504:12,548,452...12,643,399 		JBrowse link
G Dna2 DNA replication helicase/nuclease 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936521:9,843,867...9,884,248
Ensembl chrNW_004936521:9,843,900...9,883,932 		JBrowse link
G Dnm1l dynamin 1 like ISO CTD Direct Evidence: marker/mechanism CTD PMID:17460227 NCBI chrNW_004936607:3,576,357...3,632,423
Ensembl chrNW_004936607:3,576,392...3,632,554 		JBrowse link
G Dnmt3a DNA methyltransferase 3 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:30478443 NCBI chrNW_004936493:6,963,406...7,013,256
Ensembl chrNW_004936493:6,935,386...7,007,610 		JBrowse link
G Dock6 dedicator of cytokinesis 6 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936659:1,341,144...1,394,484
Ensembl chrNW_004936659:1,341,331...1,379,728 		JBrowse link
G Donson DNA replication fork stabilization factor DONSON ISO CTD Direct Evidence: marker/mechanism CTD PMID:28191891 NCBI chrNW_004936500:8,712,168...8,720,728
Ensembl chrNW_004936500:8,712,205...8,739,953 		JBrowse link
G Dse dermatan sulfate epimerase ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:24824130 NCBI chrNW_004936824:957,783...995,465
Ensembl chrNW_004936824:957,848...995,260 		JBrowse link
G Dync1h1 dynein cytoplasmic 1 heavy chain 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23603762 NCBI chrNW_004936835:225,879...290,160
Ensembl chrNW_004936835:225,324...289,954 		JBrowse link
G Dyrk1a dual specificity tyrosine phosphorylation regulated kinase 1A ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25167861 PMID:25326635 PMID:25641759 PMID:25741868 PMID:25920557 More... NCBI chrNW_004936500:5,317,109...5,423,593
Ensembl chrNW_004936500:5,316,164...5,404,353 		JBrowse link
G Eftud2 elongation factor Tu GTP binding domain containing 2 ISO associated with mandibulofacial dysostosis, Guion-Almeida type;DNA:mutations:cds:multiple RGD PMID:24470203 RGD:155791662 NCBI chrNW_004936541:1,216,584...1,259,355
Ensembl chrNW_004936541:1,217,138...1,257,935 		JBrowse link
G Eif2b1 eukaryotic translation initiation factor 2B subunit alpha ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chrNW_004936558:1,196,111...1,205,321
Ensembl chrNW_004936558:1,196,068...1,205,867 		JBrowse link
G Elac2 elaC ribonuclease Z 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936595:5,543,476...5,565,075
Ensembl chrNW_004936595:5,543,221...5,565,200 		JBrowse link
G Emc1 ER membrane protein complex subunit 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936474:5,512,100...5,539,198
Ensembl chrNW_004936474:5,511,661...5,539,237 		JBrowse link
G Ep300 E1A binding protein p300 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chrNW_004936492:696,982...778,132
Ensembl chrNW_004936492:696,960...778,138 		JBrowse link
G Epg5 ectopic P-granules 5 autophagy tethering factor ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936517:841,402...941,054
Ensembl chrNW_004936517:841,411...939,581 		JBrowse link
G Epm2a EPM2A glucan phosphatase, laforin ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936625:761,013...819,826
Ensembl chrNW_004936625:738,124...821,566 		JBrowse link
G Ercc4 ERCC excision repair 4, endonuclease catalytic subunit ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 PMID:28767289 NCBI chrNW_004936501:2,301,072...2,329,346
Ensembl chrNW_004936501:2,300,835...2,329,351 		JBrowse link
G Ercc6 ERCC excision repair 6, chromatin remodeling factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:10739753 PMID:18628313 NCBI chrNW_004936728:706,499...843,447
Ensembl chrNW_004936728:761,804...844,690 		JBrowse link
G Ext1 exostosin glycosyltransferase 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:24728327 PMID:25741868 PMID:28492532 NCBI chrNW_004936470:28,303,213...28,566,470
Ensembl chrNW_004936470:28,303,828...28,566,118 		JBrowse link
G F8 coagulation factor VIII ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chrNW_004936927:189,359...301,791
Ensembl chrNW_004936927:190,111...301,609 		JBrowse link
G Fam111a FAM111 trypsin like peptidase A ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936581:3,482,649...3,488,331
Ensembl chrNW_004936581:3,480,412...3,490,195 		JBrowse link
G Fam162b family with sequence similarity 162 member B ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:24824130 NCBI chrNW_004936658:7,938...13,751
Ensembl chrNW_004936658:10,040...13,799 		JBrowse link
G Fam184a family with sequence similarity 184 member A ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:24824130 NCBI chrNW_004936658:1,762,432...1,888,603
Ensembl chrNW_004936658:1,761,885...1,888,622 		JBrowse link
G Fanca FA complementation group A ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:26689913 PMID:28202063 PMID:28492532 PMID:30032139 NCBI chrNW_004936641:281,119...319,796
Ensembl chrNW_004936641:281,073...324,053 		JBrowse link
G Fance FA complementation group E ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chrNW_004936476:23,783,161...23,794,646
Ensembl chrNW_004936476:23,782,977...23,794,708 		JBrowse link
G Fanci FA complementation group I ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936483:15,096,215...15,179,856
Ensembl chrNW_004936483:15,106,902...15,179,094 		JBrowse link
G Fat4 FAT atypical cadherin 4 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936662:3,537,917...3,704,012
Ensembl chrNW_004936662:3,537,925...3,690,877 		JBrowse link
G Fcn3 ficolin 3 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chrNW_004936474:11,680,166...11,685,214 JBrowse link
G Fgf8 fibroblast growth factor 8 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chrNW_004936600:4,004,847...4,010,626
Ensembl chrNW_004936600:4,004,824...4,010,689 		JBrowse link
G Fgfrl1 fibroblast growth factor receptor like 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chrNW_004936477:22,177,473...22,189,554
Ensembl chrNW_004936477:22,177,457...22,189,655 		JBrowse link
G Fh fumarate hydratase ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:26467025 PMID:28492532 PMID:30548481 NCBI chrNW_004936526:8,936,096...8,965,155
Ensembl chrNW_004936526:8,935,991...8,965,367 		JBrowse link
G Flna filamin A ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936809:1,097,288...1,123,206
Ensembl chrNW_004936809:1,097,294...1,123,201 		JBrowse link
G Foxg1 forkhead box G1 ISO ClinVar Annotator: match by term: Congenital microcephaly ClinVar PMID:25741868 NCBI chrNW_004936494:3,738,419...3,740,419
Ensembl chrNW_004936494:3,736,120...3,739,498 		JBrowse link
G Fras1 Fraser extracellular matrix complex subunit 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936676:1,870,856...2,138,832
Ensembl chrNW_004936676:1,870,814...2,135,823 		JBrowse link
G Frem1 FRAS1 related extracellular matrix 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chrNW_004936539:8,338,624...8,508,031
Ensembl chrNW_004936539:8,351,159...8,508,069 		JBrowse link
G Frem2 FRAS1 related extracellular matrix 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936565:6,671,578...6,837,514
Ensembl chrNW_004936565:6,671,737...6,837,514 		JBrowse link
G Frmd4a FERM domain containing 4A ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chrNW_004936613:414,881...710,210
Ensembl chrNW_004936613:414,473...842,905 		JBrowse link
G Gata4 GATA binding protein 4 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:18672102 PMID:19302747 PMID:19678963 PMID:21110066 PMID:21519287 More... NCBI chrNW_004936675:3,408,549...3,420,828 JBrowse link
G Gatad1 GATA zinc finger domain containing 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936803:1,348,238...1,361,566 JBrowse link
G Gemin4 gem nuclear organelle associated protein 4 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25558065 PMID:25741868 PMID:27878435 NCBI chrNW_004936538:7,033,354...7,040,178
Ensembl chrNW_004936538:7,004,175...7,043,459 		JBrowse link
G Gli2 GLI family zinc finger 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chrNW_004936469:49,616,552...49,788,760
Ensembl chrNW_004936469:49,617,095...49,673,213 		JBrowse link
G Gnao1 G protein subunit alpha o1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:23993195 PMID:25741868 PMID:25966631 PMID:26060304 PMID:27072799 More... NCBI chrNW_004936475:8,610,123...8,681,606
Ensembl chrNW_004936475:8,565,889...8,690,673 		JBrowse link
G Gnb1 G protein subunit beta 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:27108799 PMID:28492532 PMID:30194818 PMID:31735425 More... NCBI chrNW_004936737:1,518,855...1,554,926
Ensembl chrNW_004936737:1,524,325...1,555,102 		JBrowse link
G Gopc golgi associated PDZ and coiled-coil motif containing ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:24824130 NCBI chrNW_004936658:614,711...655,874
Ensembl chrNW_004936658:614,476...655,905 		JBrowse link
G Gprc6a G protein-coupled receptor class C group 6 member A ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:24824130 NCBI chrNW_004936658:38,931...58,534
Ensembl chrNW_004936658:38,931...58,534 		JBrowse link
G Grin2a glutamate ionotropic receptor NMDA type subunit 2A ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chrNW_004936530:8,286,101...8,612,183
Ensembl chrNW_004936530:8,287,574...8,608,343 		JBrowse link
G Grip1 glutamate receptor interacting protein 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936545:4,353,056...4,606,196
Ensembl chrNW_004936545:4,353,040...5,002,725 		JBrowse link
G Hars1 histidyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 PMID:32333447 NCBI chrNW_004936531:9,610,335...9,625,203
Ensembl chrNW_004936531:9,610,306...9,625,551 		JBrowse link
G Hdac4 histone deacetylase 4 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chrNW_004936745:1,730,743...1,942,071
Ensembl chrNW_004936745:1,730,694...1,942,074 		JBrowse link
G Hes7 hes family bHLH transcription factor 7 ISO ClinVar Annotator: match by term: Progressive microcephaly ClinVar PMID:25741868 NCBI chrNW_004936595:1,352,621...1,355,177
Ensembl chrNW_004936595:1,352,621...1,356,113 		JBrowse link
G Hprt1 hypoxanthine phosphoribosyltransferase 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:2323782 PMID:15571220 PMID:17027311 PMID:22157001 PMID:23975452 More... NCBI chrNW_004936691:650,753...694,362
Ensembl chrNW_004936691:652,769...694,463 		JBrowse link
G Hspg2 heparan sulfate proteoglycan 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936474:7,407,622...7,478,950
Ensembl chrNW_004936474:7,408,518...7,467,851 		JBrowse link
G Iba57 iron-sulfur cluster assembly factor IBA57 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chrNW_004936864:50,033...63,540
Ensembl chrNW_004936864:49,889...63,481 		JBrowse link
G Ift122 intraflagellar transport 122 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936602:908,034...956,634
Ensembl chrNW_004936602:905,486...956,521 		JBrowse link
G Ift140 intraflagellar transport 140 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936694:2,344,448...2,419,396
Ensembl chrNW_004936694:2,344,283...2,423,520 		JBrowse link
G Ift74 intraflagellar transport 74 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936611:2,588,711...2,660,496
Ensembl chrNW_004936611:2,588,695...2,660,532 		JBrowse link
G Igf1 insulin like growth factor 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chrNW_004936492:11,709,623...11,784,028
Ensembl chrNW_004936492:11,709,222...11,778,351 		JBrowse link
G Iqsec2 IQ motif and Sec7 domain ArfGEF 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chrNW_004936751:210,800...294,358
Ensembl chrNW_004936751:210,761...294,399 		JBrowse link
G Itgb6 integrin subunit beta 6 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chrNW_004936469:18,581,855...18,650,109
Ensembl chrNW_004936469:18,581,840...18,650,123 		JBrowse link
G Jarid2 jumonji and AT-rich interaction domain containing 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chrNW_004936552:1,566,382...1,786,837
Ensembl chrNW_004936552:1,566,788...1,785,490 		JBrowse link
G Kcnq1 potassium voltage-gated channel subfamily Q member 1 ISO ClinVar Annotator: match by term: Congenital microcephaly ClinVar PMID:1984130 PMID:2654361 PMID:15781747 PMID:15840476 PMID:19716085 More... NCBI chrNW_004936794:707,122...994,206
Ensembl chrNW_004936794:707,119...994,778 		JBrowse link
G Kif11 kinesin family member 11 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chrNW_004936601:2,163,316...2,213,674
Ensembl chrNW_004936601:2,163,795...2,213,588 		JBrowse link
G Kif1c kinesin family member 1C ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936677:2,696,385...2,720,959
Ensembl chrNW_004936677:2,696,209...2,720,959 		JBrowse link
G Kif20b kinesin family member 20B ISO OMIM:251200 | OMIM:604321 | OMIM:604804 | OMIM:608393 | OMIM:608716 | OMIM:612703 MouseDO NCBI chrNW_004936601:4,457,142...4,517,693
Ensembl chrNW_004936601:4,456,724...4,516,135 		JBrowse link
G Kif23 kinesin family member 23 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:26539891 NCBI chrNW_004936471:29,154,618...29,177,865
Ensembl chrNW_004936471:29,150,205...29,177,769 		JBrowse link
G Kif26b kinesin family member 26B ISO ClinVar Annotator: match by term: Microcephaly ClinVar NCBI chrNW_004936526:5,250,154...5,434,699
Ensembl chrNW_004936526:5,255,227...5,434,697 		JBrowse link
G Kif2a kinesin family member 2A ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936480:6,324,214...6,357,696
Ensembl chrNW_004936480:6,324,216...6,357,741 		JBrowse link
G Kif5c kinesin family member 5C ISO CTD Direct Evidence: marker/mechanism CTD PMID:23603762 NCBI chrNW_004936469:28,282,921...28,431,638
Ensembl chrNW_004936469:28,280,095...28,431,695 		JBrowse link
G Kifbp kinesin family binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:15883926 NCBI chrNW_004936521:9,395,490...9,421,093
Ensembl chrNW_004936521:9,395,465...9,421,629 		JBrowse link
G Kmt2a lysine methyltransferase 2A ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chrNW_004936542:3,480,071...3,566,823
Ensembl chrNW_004936542:3,391,774...3,562,147 		JBrowse link
G Kmt2c lysine methyltransferase 2C ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936527:7,310,885...7,508,032
Ensembl chrNW_004936527:7,312,721...7,506,365 		JBrowse link
G Kmt2d lysine methyltransferase 2D ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:21671394 PMID:22126750 PMID:25741868 PMID:28492532 PMID:30107592 NCBI chrNW_004936512:6,819,240...6,860,852
Ensembl chrNW_004936512:6,822,057...6,854,451 		JBrowse link
G Knl1 kinetochore scaffold 1 ISO ClinVar Annotator: match by term: Primary Microcephaly, Recessive ClinVar PMID:18414213 PMID:25741868 PMID:28492532 NCBI chrNW_004936471:4,079,877...4,110,205
Ensembl chrNW_004936471:4,059,995...4,109,413 		JBrowse link
G Kpna5 karyopherin subunit alpha 5 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:24824130
G Lars1 leucyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936504:8,500,024...8,568,477
Ensembl chrNW_004936504:8,499,978...8,570,715 		JBrowse link
G Ldlrad2 low density lipoprotein receptor class A domain containing 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chrNW_004936474:7,375,439...7,407,318 JBrowse link
G Lemd2 LEM domain nuclear envelope protein 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:30905398 NCBI chrNW_004936476:25,170,954...25,188,298
Ensembl chrNW_004936476:25,170,973...25,186,965 		JBrowse link
G Lmnb1 lamin B1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chrNW_004936504:157,459...211,916
Ensembl chrNW_004936504:157,453...211,967 		JBrowse link
G LOC101961358 mitochondrial chaperone BCS1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:22277967 PMID:25741868 PMID:28492532 PMID:31316545 PMID:32581362 More... NCBI chrNW_004936569:1,104,493...1,108,708
Ensembl chrNW_004936569:1,104,549...1,108,708 		JBrowse link
G LOC101968921 angiotensin-converting enzyme ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936541:4,157,847...4,178,156
Ensembl chrNW_004936541:4,157,393...4,178,177 		JBrowse link
G LOC101969275 tubulin gamma-1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:23603762 NCBI chrNW_004936490:17,357,782...17,363,006
Ensembl chrNW_004936490:17,357,608...17,398,008 		JBrowse link
G LOC101971285 7-dehydrocholesterol reductase ISO ClinVar Annotator: match by term: Congenital microcephaly | ClinVar Annotator: match by term: Microcephaly ClinVar PMID:9634533 PMID:9653161 PMID:10602371 PMID:10677299 PMID:10814720 More... NCBI chrNW_004936794:1,432,379...1,468,966 JBrowse link
G LOC101972545 RWD domain-containing protein 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:24824130 NCBI chrNW_004936824:1,117,865...1,136,974
Ensembl chrNW_004936824:1,118,020...1,136,804 		JBrowse link
G LOC101972766 tubulin alpha-1A chain ISO associated with Lissencephaly;DNA:missense mutations:cds: RGD PMID:18728072 RGD:11069114 NCBI chrNW_004936512:6,959,656...6,964,299
Ensembl chrNW_004936512:6,958,985...6,964,299 		JBrowse link
G LOC101972801 histone H4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28920961 NCBI chrNW_004936671:1,953,045...1,953,612 JBrowse link
G LOC101974150 WD repeat and FYVE domain-containing protein 3 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chrNW_004936738:31,426...150,463
Ensembl chrNW_004936738:1,841...147,264 		JBrowse link
G Lrp5 LDL receptor related protein 5 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936599:1,746,309...1,814,471
Ensembl chrNW_004936599:1,746,406...1,814,321 		JBrowse link
G Mak16 MAK16 homolog ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chrNW_004936766:424,262...432,104
Ensembl chrNW_004936766:420,330...432,244 		JBrowse link
G Man1a1 mannosidase alpha class 1A member 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:24824130 NCBI chrNW_004936658:1,981,203...2,148,349
Ensembl chrNW_004936658:1,983,787...2,150,280 		JBrowse link
G Masp1 MBL associated serine protease 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chrNW_004936578:2,804,460...2,857,731
Ensembl chrNW_004936578:2,804,460...2,869,582 		JBrowse link
G Mbd5 methyl-CpG binding domain protein 5 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936469:28,748,499...28,889,679
Ensembl chrNW_004936469:28,744,814...28,802,776 		JBrowse link
G Mcm4 minichromosome maintenance complex component 4 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936590:4,705,028...4,722,320
Ensembl chrNW_004936590:4,704,972...4,722,427 		JBrowse link
G Mcm9 minichromosome maintenance 9 homologous recombination repair factor ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:24824130 NCBI chrNW_004936658:1,657,226...1,734,150 JBrowse link
G Mcph1 microcephalin 1 no_association ISO DNA:SNP: :c.940G>C (g.37995G>C) (human)
ClinVar Annotator: match by term: Microcephaly | ClinVar Annotator: match by term: Primary Microcephaly, Recessive		 RGD
ClinVar		 PMID:19267414 PMID:25741868 RGD:13204744 NCBI chrNW_004936615:4,386,667...4,580,720
Ensembl chrNW_004936615:4,386,635...4,580,747 		JBrowse link
G Mecp2 methyl-CpG binding protein 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:11007980 PMID:11071498 PMID:11309367 PMID:11772708 PMID:11805248 More... NCBI chrNW_004936809:902,938...967,771
Ensembl chrNW_004936809:911,764...966,839 		JBrowse link
G Med17 mediator complex subunit 17 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936674:998,036...1,019,937
Ensembl chrNW_004936674:997,259...1,019,953 		JBrowse link
G Mefv MEFV innate immunity regulator, pyrin ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:9288094 PMID:9288758 PMID:9781020 PMID:10364520 PMID:10787449 More... NCBI chrNW_004936694:970,706...980,605 JBrowse link
G Mfn2 mitofusin 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:15064763 PMID:16437557 PMID:16714318 PMID:16835246 PMID:17215403 More... NCBI chrNW_004936474:767,754...795,258
Ensembl chrNW_004936474:767,671...796,556 		JBrowse link
G Mfsd2a MFSD2 lysolipid transporter A, lysophospholipid ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chrNW_004936474:21,790,807...21,803,336
Ensembl chrNW_004936474:21,790,747...21,803,360 		JBrowse link
G Mipep mitochondrial intermediate peptidase ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chrNW_004936688:1,592,810...1,736,896
Ensembl chrNW_004936688:1,592,821...1,737,282 		JBrowse link
G Mks1 MKS transition zone complex subunit 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:24608809 PMID:25741868 PMID:28492532 PMID:30076350 PMID:33584783 NCBI chrNW_004936490:4,865,243...4,876,601
Ensembl chrNW_004936490:4,865,243...4,878,912 		JBrowse link
G Mtfmt mitochondrial methionyl-tRNA formyltransferase ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936471:25,334,544...25,352,520
Ensembl chrNW_004936471:25,335,068...25,352,480 		JBrowse link
G Nacc1 nucleus accumbens associated 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936659:2,164,147...2,169,879
Ensembl chrNW_004936659:2,163,643...2,169,873 		JBrowse link
G Nat8l N-acetyltransferase 8 like ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chrNW_004936477:21,397,729...21,405,098 JBrowse link
G Nbn nibrin ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:9590180 PMID:9590181 PMID:9620777 PMID:10398434 PMID:10799436 More... NCBI chrNW_004936544:3,773,828...3,812,673
Ensembl chrNW_004936544:3,775,220...3,808,837 		JBrowse link
G Nepro nucleolus and neural progenitor protein ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chrNW_004936536:641,085...655,177
Ensembl chrNW_004936536:638,961...655,159 		JBrowse link
G Nf1 neurofibromin 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 PMID:30308447 NCBI chrNW_004936538:3,394,623...3,596,025
Ensembl chrNW_004936538:3,398,222...3,595,261 		JBrowse link
G Npas4 neuronal PAS domain protein 4 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chrNW_004936599:3,144,829...3,150,307
Ensembl chrNW_004936599:3,144,793...3,150,377 		JBrowse link
G Nsd1 nuclear receptor binding SET domain protein 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chrNW_004936597:1,426,318...1,577,193
Ensembl chrNW_004936597:1,425,974...1,572,715 		JBrowse link
G Nsd2 nuclear receptor binding SET domain protein 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chrNW_004936477:21,460,442...21,531,563
Ensembl chrNW_004936477:21,460,478...21,534,909 		JBrowse link
G Nt5c2 5'-nucleotidase, cytosolic II ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936600:2,828,277...2,892,795 JBrowse link
G Nup188 nucleoporin 188 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:32275884 NCBI chrNW_004936487:16,408,523...16,462,916
Ensembl chrNW_004936487:16,408,518...16,462,923 		JBrowse link
G Nup214 nucleoporin 214 ISO ClinVar Annotator: match by term: Progressive microcephaly ClinVar PMID:25741868 PMID:31178128 NCBI chrNW_004936487:17,981,402...18,067,828
Ensembl chrNW_004936487:17,981,304...18,067,854 		JBrowse link
G Nus1 NUS1 dehydrodolichyl diphosphate synthase subunit ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:24824130 PMID:25741868 NCBI chrNW_004936658:695,431...718,891
Ensembl chrNW_004936658:695,609...718,746 		JBrowse link
G Orc1 origin recognition complex subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21358633 NCBI chrNW_004936522:8,580,661...8,610,750
Ensembl chrNW_004936522:8,586,591...8,610,747 		JBrowse link
G Otx2 orthodenticle homeobox 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:19965921 PMID:25741868 PMID:28492532 NCBI chrNW_004936495:1,433,124...1,449,409
Ensembl chrNW_004936495:1,432,598...1,442,918 		JBrowse link
G Pak3 p21 (RAC1) activated kinase 3 ISO ClinVar Annotator: match by term: Microcephaly ClinVar NCBI chrNW_004936499:4,079,127...4,328,580
Ensembl chrNW_004936499:4,079,103...4,188,774 		JBrowse link
G Pclo piccolo presynaptic cytomatrix protein ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936734:1,273,055...1,674,913
Ensembl chrNW_004936734:1,277,591...1,479,521 		JBrowse link
G Pcnt pericentrin ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936778:149,844...248,905
Ensembl chrNW_004936778:149,177...247,357 		JBrowse link
G Pdgfrb platelet derived growth factor receptor beta ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936504:4,762,251...4,799,789
Ensembl chrNW_004936504:4,762,184...4,799,829 		JBrowse link
G Pdzd4 PDZ domain containing 4 ISO ClinVar Annotator: match by term: Microcephaly ClinVar NCBI chrNW_004936809:681,412...707,932
Ensembl chrNW_004936809:679,938...707,938 		JBrowse link
G Pex1 peroxisomal biogenesis factor 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936803:1,291,867...1,340,123
Ensembl chrNW_004936803:1,291,702...1,340,178 		JBrowse link
G Pex16 peroxisomal biogenesis factor 16 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936562:3,103,332...3,109,884
Ensembl chrNW_004936562:3,103,349...3,109,887 		JBrowse link
G Pex5 peroxisomal biogenesis factor 5 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 PMID:32901917 PMID:33584783 PMID:35346031 NCBI chrNW_004936709:587,296...606,085
Ensembl chrNW_004936709:587,295...606,247 		JBrowse link
G Plekhg2 pleckstrin homology and RhoGEF domain containing G2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chrNW_004936661:2,257,097...2,268,301
Ensembl chrNW_004936661:2,257,068...2,268,716 		JBrowse link
G Plk4 polo like kinase 4 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chrNW_004936642:2,837,041...2,855,369
Ensembl chrNW_004936642:2,837,022...2,855,103 		JBrowse link
G Pln phospholamban ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:24824130 NCBI chrNW_004936658:1,443,626...1,453,770
Ensembl chrNW_004936658:1,443,795...1,453,839 		JBrowse link
G Pnkp polynucleotide kinase 3'-phosphatase ISO CTD Direct Evidence: marker/mechanism CTD PMID:20118933 NCBI chrNW_004936664:3,649,020...3,656,545
Ensembl chrNW_004936664:3,649,833...3,656,035 		JBrowse link
G Poc1a POC1 centriolar protein A ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chrNW_004936529:3,423,588...3,495,698
Ensembl chrNW_004936529:3,422,788...3,495,655 		JBrowse link
G Polg DNA polymerase gamma, catalytic subunit ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chrNW_004936483:15,178,947...15,196,277
Ensembl chrNW_004936483:15,179,342...15,195,258 		JBrowse link
G Polk DNA polymerase kappa ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chrNW_004936549:1,199,810...1,261,889 JBrowse link
G Ppil1 peptidylprolyl isomerase like 1 ISO MouseDO NCBI chrNW_004936476:22,552,484...22,570,860
Ensembl chrNW_004936476:22,552,566...22,571,001 		JBrowse link
G Pqbp1 polyglutamine binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14634649 PMID:15024694 PMID:16740914 NCBI chrNW_004936721:825,171...830,010
Ensembl chrNW_004936721:825,075...832,755 		JBrowse link
G Prdm16 PR/SET domain 16 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936737:400,819...446,768
Ensembl chrNW_004936737:404,846...446,985 		JBrowse link
G Prkdc protein kinase, DNA-activated, catalytic subunit ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chrNW_004936590:4,722,914...4,887,615
Ensembl chrNW_004936590:4,722,873...4,890,156 		JBrowse link
G Psat1 phosphoserine aminotransferase 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 PMID:32077105 PMID:34089226 NCBI chrNW_004936632:4,392,165...4,422,670
Ensembl chrNW_004936632:4,391,459...4,423,264 		JBrowse link
G Ptdss1 phosphatidylserine synthase 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chrNW_004936470:46,209,700...46,275,305
Ensembl chrNW_004936470:46,208,688...46,275,361 		JBrowse link
G Ptpn11 protein tyrosine phosphatase non-receptor type 11 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:11704759 PMID:11992261 PMID:12717436 PMID:14644997 PMID:15539800 More... NCBI chrNW_004936668:2,602,261...2,687,903
Ensembl chrNW_004936668:2,628,706...2,682,448 		JBrowse link
G Pycr1 pyrroline-5-carboxylate reductase 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:21739576 PMID:24913064 PMID:25741868 PMID:28492532 NCBI chrNW_004936594:5,439,911...5,443,535
Ensembl chrNW_004936594:5,439,175...5,443,564 		JBrowse link
G Pycr2 pyrroline-5-carboxylate reductase 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chrNW_004936526:2,721,579...2,726,699
Ensembl chrNW_004936526:2,720,521...2,726,762 		JBrowse link
G Qars1 glutaminyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 PMID:30755392 PMID:31618474 NCBI chrNW_004936529:802,753...810,270
Ensembl chrNW_004936529:802,759...810,265 		JBrowse link
G Rab11a RAB11A, member RAS oncogene family ISO ClinVar Annotator: match by term: Congenital microcephaly ClinVar PMID:25741868 NCBI chrNW_004936471:26,089,216...26,111,245
Ensembl chrNW_004936471:26,088,852...26,113,433 		JBrowse link
G Rab3gap2 RAB3 GTPase activating non-catalytic protein subunit 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chrNW_004936650:1,944,291...2,054,847
Ensembl chrNW_004936650:1,944,346...2,056,665 		JBrowse link
G Rad51c RAD51 paralog C ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 PMID:32566746 PMID:32980694 PMID:33309985 NCBI chrNW_004936490:4,440,638...4,473,301
Ensembl chrNW_004936490:4,439,097...4,473,357 		JBrowse link
G Rag1 recombination activating 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chrNW_004936533:1,817,135...1,827,393
Ensembl chrNW_004936533:1,817,135...1,827,393 		JBrowse link
G Rbbp8 RB binding protein 8, endonuclease ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chrNW_004936550:2,482,915...2,554,077 JBrowse link
G Rbm28 RNA binding motif protein 28 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chrNW_004936479:15,451,583...15,483,496
Ensembl chrNW_004936479:15,452,096...15,483,503 		JBrowse link
G Ret ret proto-oncogene ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 PMID:30217742 PMID:32164334 NCBI chrNW_004936617:2,927,185...2,980,594
Ensembl chrNW_004936617:2,927,155...2,980,602 		JBrowse link
G Rfx6 regulatory factor X6 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:24824130 NCBI chrNW_004936658:94,589...145,135
Ensembl chrNW_004936658:94,589...145,135 		JBrowse link
G Rfx7 regulatory factor X7 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chrNW_004936471:17,465,926...17,588,838
Ensembl chrNW_004936471:17,465,925...17,588,844 		JBrowse link
G Rnf17 ring finger protein 17 ISO ClinVar Annotator: match by term: Primary Microcephaly, Recessive ClinVar NCBI chrNW_004936720:2,203,868...2,324,851 JBrowse link
G Ros1 ROS proto-oncogene 1, receptor tyrosine kinase ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:24824130 NCBI chrNW_004936658:382,025...506,818
Ensembl chrNW_004936658:382,261...506,818 		JBrowse link
G Rpgrip1 RPGR interacting protein 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936880:440,900...511,503
Ensembl chrNW_004936880:440,737...512,685 		JBrowse link
G Rpgrip1l RPGRIP1 like ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chrNW_004936475:6,219,187...6,321,612
Ensembl chrNW_004936475:6,215,475...6,321,618 		JBrowse link
G Rreb1 ras responsive element binding protein 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936534:5,321,488...5,390,612
Ensembl chrNW_004936534:5,324,430...5,385,707 		JBrowse link
G Rsph4a radial spoke head component 4A ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:24824130 NCBI chrNW_004937068:45,105...59,540
Ensembl chrNW_004937068:45,181...57,159 		JBrowse link
G Rtel1 regulator of telomere elongation helicase 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936514:10,920,979...10,954,483
Ensembl chrNW_004936514:10,922,322...10,954,402 		JBrowse link
G Rttn rotatin ISO ClinVar Annotator: match by term: Congenital microcephaly | ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:26608784 PMID:26846091 PMID:28492532 NCBI chrNW_004936964:1,369...71,142 JBrowse link
G Sall1 spalt like transcription factor 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chrNW_004936475:4,106,663...4,121,356
Ensembl chrNW_004936475:4,106,084...4,121,413 		JBrowse link
G Samd9l sterile alpha motif domain containing 9 like ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936803:731,878...754,540
Ensembl chrNW_004936803:749,740...754,473 		JBrowse link
G Sbds SBDS ribosome maturation factor ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:12496757 PMID:14749921 PMID:15284109 PMID:15769891 PMID:15860664 More... NCBI chrNW_004936543:7,324,748...7,329,774 JBrowse link
G Sbf1 SET binding factor 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:23749797 PMID:25741868 PMID:28492532 NCBI chrNW_004936629:367,253...393,355
Ensembl chrNW_004936629:367,226...393,352 		JBrowse link
G Scamp4 secretory carrier membrane protein 4 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chrNW_004936588:1,104,098...1,119,761
Ensembl chrNW_004936588:1,104,098...1,119,778 		JBrowse link
G Scarf2 scavenger receptor class F member 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chrNW_004936619:2,900,536...2,915,306
Ensembl chrNW_004936619:2,903,824...2,914,518 		JBrowse link
G Scn1a sodium voltage-gated channel alpha subunit 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:14672992 PMID:17347258 PMID:25741868 PMID:28492532 PMID:32581362 NCBI chrNW_004936469:13,194,769...13,345,979
Ensembl chrNW_004936469:13,256,925...13,345,978 		JBrowse link
G Scn4a sodium voltage-gated channel alpha subunit 4 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936541:4,541,061...4,570,212
Ensembl chrNW_004936541:4,543,102...4,569,862 		JBrowse link
G Scn9a sodium voltage-gated channel alpha subunit 9 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chrNW_004936469:13,063,971...13,153,030
Ensembl chrNW_004936469:13,064,043...13,152,974 		JBrowse link
G Scrib scribble planar cell polarity protein ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chrNW_004936470:8,349,175...8,370,099
Ensembl chrNW_004936470:8,349,188...8,369,864 		JBrowse link
G Sdhd succinate dehydrogenase complex subunit D ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936612:2,357,336...2,369,204 JBrowse link
G Sec24c SEC24 homolog C, COPII coat complex component ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chrNW_004936521:5,374,555...5,402,123 JBrowse link
G Setd5 SET domain containing 5 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936602:3,577,543...3,654,179
Ensembl chrNW_004936602:3,577,525...3,654,269 		JBrowse link
G Sim1 SIM bHLH transcription factor 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chrNW_004936651:1,841,040...1,911,944
Ensembl chrNW_004936651:1,841,054...1,911,944 		JBrowse link
G Sin3a SIN3 transcription regulator family member A ISO CTD Direct Evidence: marker/mechanism CTD PMID:27399968 NCBI chrNW_004936471:34,206,084...34,260,538
Ensembl chrNW_004936471:34,204,524...34,260,564 		JBrowse link
G Slc12a5 solute carrier family 12 member 5 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936514:6,999,793...7,027,094
Ensembl chrNW_004936514:6,998,044...7,026,767 		JBrowse link
G Slc13a5 solute carrier family 13 member 5 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936677:1,288,637...1,316,884
Ensembl chrNW_004936677:1,288,456...1,318,221 		JBrowse link
G Slc1a4 solute carrier family 1 member 4 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chrNW_004936491:9,761,002...9,790,535
Ensembl chrNW_004936491:9,760,952...9,790,536 		JBrowse link
G Slc25a19 solute carrier family 25 member 19 ISO Microcephaly, Amish type, OMIM:607196;DNA:point mutation:exon:G177A RGD PMID:12185364 RGD:1624242 NCBI chrNW_004936594:557,823...570,599 JBrowse link
G Slc2a1 solute carrier family 2 member 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:10980529 PMID:20129935 PMID:21832227 PMID:25326635 PMID:25741868 More... NCBI chrNW_004936474:24,205,878...24,236,611
Ensembl chrNW_004936474:24,206,644...24,236,713 		JBrowse link
G Slc35f1 solute carrier family 35 member F1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:24824130 NCBI chrNW_004936658:851,751...1,238,263
Ensembl chrNW_004936658:1,076,196...1,238,276 		JBrowse link
G Slx4 SLX4 structure-specific endonuclease subunit ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936694:720,585...744,477
Ensembl chrNW_004936694:722,481...744,600 		JBrowse link
G Smarca2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chrNW_004936503:2,835,512...3,001,365
Ensembl chrNW_004936503:2,835,496...3,001,381 		JBrowse link
G Smarca4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936659:1,152,846...1,246,718
Ensembl chrNW_004936659:1,169,792...1,249,213 		JBrowse link
G Smarcal1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1 ISO ClinVar Annotator: match by term: Congenital microcephaly ClinVar PMID:11799392 PMID:15880370 PMID:16840568 PMID:17089404 PMID:18805831 More... NCBI chrNW_004936586:828,661...887,988
Ensembl chrNW_004936586:828,650...888,047 		JBrowse link
G Smc1a structural maintenance of chromosomes 1A ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:16604071 PMID:17273969 PMID:24124034 PMID:25125236 PMID:25741868 More... NCBI chrNW_004936751:332,351...388,756
Ensembl chrNW_004936751:349,597...388,755 		JBrowse link
G Smo smoothened, frizzled class receptor ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chrNW_004936579:5,893,064...5,917,021
Ensembl chrNW_004936579:5,892,542...5,917,281 		JBrowse link
G Snap25 synaptosome associated protein 25 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:33299146 NCBI chrNW_004936485:9,198,744...9,279,854
Ensembl chrNW_004936485:9,195,110...9,279,920 		JBrowse link
G Spock1 SPARC (osteonectin), cwcv and kazal like domains proteoglycan 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chrNW_004936597:4,000,433...4,493,920
Ensembl chrNW_004936597:4,000,400...4,156,221 		JBrowse link
G Sptan1 spectrin alpha, non-erythrocytic 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936487:16,071,043...16,142,662
Ensembl chrNW_004936487:16,070,996...16,142,662 		JBrowse link
G Sptlc1 serine palmitoyltransferase long chain base subunit 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chrNW_004936796:886,946...948,254
Ensembl chrNW_004936796:886,922...948,254 		JBrowse link
G Srcap Snf2 related CREBBP activator protein ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936501:13,095,690...13,131,183
Ensembl chrNW_004936501:13,096,840...13,131,183 		JBrowse link
G Stambp STAM binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:23542699 NCBI chrNW_004936556:143,483...174,383 JBrowse link
G Stil STIL centriolar assembly protein ISO ClinVar Annotator: match by term: Primary Microcephaly, Recessive ClinVar NCBI chrNW_004936474:28,079,114...28,131,214
Ensembl chrNW_004936474:28,079,492...28,131,198 		JBrowse link
G Stt3a STT3 oligosaccharyltransferase complex catalytic subunit A ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936743:1,975,847...2,000,100 JBrowse link
G Stxbp1 syntaxin binding protein 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chrNW_004936487:15,300,758...15,367,475
Ensembl chrNW_004936487:15,300,952...15,365,713 		JBrowse link
G Svbp small vasohibin binding protein ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:30607023 PMID:31363758 NCBI chrNW_004936474:24,128,633...24,135,231
Ensembl chrNW_004936474:24,126,278...24,135,237 		JBrowse link
G Taf2 TATA-box binding protein associated factor 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chrNW_004936470:26,871,865...26,951,804
Ensembl chrNW_004936470:26,871,847...26,951,806 		JBrowse link
G Taf8 TATA-box binding protein associated factor 8 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:29648665 PMID:35759269 NCBI chrNW_004936476:17,779,474...17,798,465
Ensembl chrNW_004936476:17,779,242...17,798,505 		JBrowse link
G Tat tyrosine aminotransferase ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936475:22,190,282...22,199,398
Ensembl chrNW_004936475:22,189,728...22,199,672 		JBrowse link
G Tbc1d32 TBC1 domain family member 32 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chrNW_004936658:3,632,314...3,814,134
Ensembl chrNW_004936658:3,632,536...3,812,805 		JBrowse link
G Tbcd tubulin folding cofactor D ISO CTD Direct Evidence: marker/mechanism CTD PMID:27666370 PMID:27666374 NCBI chrNW_004936923:239,029...366,503
Ensembl chrNW_004936923:239,053...364,112 		JBrowse link
G Tbce tubulin folding cofactor E ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936484:17,048,187...17,097,414
Ensembl chrNW_004936484:17,046,284...17,095,744 		JBrowse link
G Tbl2 transducin beta like 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chrNW_004936543:2,825,990...2,833,908
Ensembl chrNW_004936543:2,824,770...2,833,922 		JBrowse link
G Tbx2 T-box transcription factor 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chrNW_004936490:2,769,264...2,778,342
Ensembl chrNW_004936490:2,769,231...2,805,238 		JBrowse link
G Tcf4 transcription factor 4 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:18728071 PMID:21671391 PMID:22045651 PMID:22460224 PMID:25741868 More... NCBI chrNW_004936497:8,410,882...8,765,678
Ensembl chrNW_004936497:8,410,860...8,764,296 		JBrowse link
G Tcof1 treacle ribosome biogenesis factor 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936504:4,533,993...4,569,997
Ensembl chrNW_004936504:4,533,981...4,570,055 		JBrowse link
G Tctn2 tectonic family member 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936558:1,142,608...1,168,755
Ensembl chrNW_004936558:1,142,598...1,168,881 		JBrowse link
G Tecpr2 tectonin beta-propeller repeat containing 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chrNW_004936835:525,198...604,685
Ensembl chrNW_004936835:524,802...607,365 		JBrowse link
G Telo2 telomere maintenance 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chrNW_004936694:2,418,223...2,433,630
Ensembl chrNW_004936694:2,419,855...2,433,767 		JBrowse link
G Tert telomerase reverse transcriptase ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chrNW_004936815:468,987...492,666
Ensembl chrNW_004936815:469,020...491,697 		JBrowse link
G Tfap2c transcription factor AP-2 gamma ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chrNW_004936875:491,032...498,732
Ensembl chrNW_004936875:491,017...498,734 		JBrowse link
G Tmem67 transmembrane protein 67 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chrNW_004936544:6,887,867...6,931,669
Ensembl chrNW_004936544:6,887,532...6,932,179 		JBrowse link
G Tnnt3 troponin T3, fast skeletal type ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936816:805,360...822,044
Ensembl chrNW_004936816:805,317...822,043 		JBrowse link
G Traip TRAF interacting protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:26595769 NCBI chrNW_004936529:1,434,629...1,466,382 JBrowse link
G Trappc3l trafficking protein particle complex subunit 3L ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:24824130 NCBI chrNW_004936824:1,048,636...1,090,900
Ensembl chrNW_004936824:1,046,502...1,091,218 		JBrowse link
G Trio trio Rho guanine nucleotide exchange factor ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:32581362 NCBI chrNW_004936665:1,821,580...2,029,839
Ensembl chrNW_004936665:1,821,583...2,030,371 		JBrowse link
G Trps1 transcriptional repressor GATA binding 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chrNW_004936470:30,475,779...30,666,546
Ensembl chrNW_004936470:30,432,625...30,665,091 		JBrowse link
G Tsen2 tRNA splicing endonuclease subunit 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18711368 NCBI chrNW_004936602:1,163,927...1,195,163
Ensembl chrNW_004936602:1,164,227...1,195,221 		JBrowse link
G Tsen34 tRNA splicing endonuclease subunit 34 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18711368 NCBI chrNW_004936994:296,012...300,958
Ensembl chrNW_004936994:295,932...303,437 		JBrowse link
G Tsen54 tRNA splicing endonuclease subunit 54 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:16470708 PMID:18414213 PMID:18711368 PMID:19459882 PMID:20301773 More... NCBI chrNW_004936594:744,531...753,350
Ensembl chrNW_004936594:744,494...753,350 		JBrowse link
G Tti2 TELO2 interacting protein 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chrNW_004936766:416,372...425,844
Ensembl chrNW_004936766:415,884...429,928 		JBrowse link
G Tuba8 tubulin alpha 8 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 PMID:31481326 NCBI chrNW_004936807:1,061,542...1,079,438
Ensembl chrNW_004936807:1,061,529...1,084,228 		JBrowse link
G Tubb tubulin beta class I ISO OMIM:251200 | OMIM:604321 | OMIM:604804 | OMIM:608393 | OMIM:608716 | OMIM:612703 MouseDO NCBI chrNW_004936837:380,880...384,752
Ensembl chrNW_004936837:380,879...384,748 		JBrowse link
G Tubb4a tubulin beta 4A class IVa ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25085639 PMID:25326637 PMID:25741868 PMID:28492532 PMID:28973395 More... NCBI chrNW_004936588:3,821,171...3,826,827
Ensembl chrNW_004936588:3,821,110...3,826,940 		JBrowse link
G Tubgcp5 tubulin gamma complex component 5 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chrNW_004936471:38,180,670...38,215,972
Ensembl chrNW_004936471:38,181,252...38,216,306 		JBrowse link
G Tubgcp6 tubulin gamma complex component 6 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936629:568,014...587,726
Ensembl chrNW_004936629:568,067...587,554 		JBrowse link
G Ubr1 ubiquitin protein ligase E3 component n-recognin 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936471:6,171,655...6,313,853
Ensembl chrNW_004936471:6,171,593...6,313,937 		JBrowse link
G Ufsp2 UFM1 specific peptidase 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:25741905 PMID:28492532 PMID:33473208 NCBI chrNW_004936554:3,926,046...3,945,575
Ensembl chrNW_004936554:3,925,982...3,948,450 		JBrowse link
G Unc80 unc-80 homolog, NALCN channel complex subunit ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chrNW_004936845:268,357...454,557
Ensembl chrNW_004936845:268,919...454,031 		JBrowse link
G Vars1 valyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:30275004 NCBI chrNW_004936727:1,752,953...1,765,624
Ensembl chrNW_004936727:1,752,953...1,765,624 		JBrowse link
G Vgll2 vestigial like family member 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:24824130 NCBI chrNW_004936658:362,377...370,298
Ensembl chrNW_004936658:362,296...370,322 		JBrowse link
G Vldlr very low density lipoprotein receptor ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chrNW_004936503:2,407,040...2,440,366
Ensembl chrNW_004936503:2,405,689...2,440,502 		JBrowse link
G Vps13b vacuolar protein sorting 13 homolog B ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936470:43,281,905...43,952,523
Ensembl chrNW_004936470:43,281,469...43,951,805 		JBrowse link
G Vps33b VPS33B late endosome and lysosome associated ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936483:16,007,448...16,031,353
Ensembl chrNW_004936483:16,007,465...16,032,392 		JBrowse link
G Vps53 VPS53 subunit of GARP complex ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936538:7,067,332...7,207,852
Ensembl chrNW_004936538:7,067,327...7,205,768 		JBrowse link
G Wdr11 WD repeat domain 11 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:34413497 NCBI chrNW_004936486:10,007,728...10,061,640
Ensembl chrNW_004936486:10,007,715...10,064,327 		JBrowse link
G Wdr62 WD repeat domain 62 ISO ClinVar Annotator: match by term: Microcephaly | ClinVar Annotator: match by term: Primary Microcephaly, Recessive ClinVar NCBI chrNW_004936922:80,136...119,702
Ensembl chrNW_004936922:80,217...119,653 		JBrowse link
G Wdr81 WD repeat domain 81 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:32581362 NCBI chrNW_004936538:7,856,263...7,868,249
Ensembl chrNW_004936538:7,856,185...7,868,259 		JBrowse link
G Xirp1 xin actin binding repeat containing 1 ISO ClinVar Annotator: match by term: Classical primary microcephaly ClinVar PMID:25558065 PMID:25741868 NCBI chrNW_004936473:28,434,910...28,444,146
Ensembl chrNW_004936473:28,436,996...28,444,176 		JBrowse link
G Yme1l1 YME1 like 1 ATPase ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chrNW_004936484:2,306,937...2,352,671
Ensembl chrNW_004936484:2,306,760...2,353,507 		JBrowse link
G Ywhag tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 PMID:31926053 NCBI chrNW_004936543:2,062,137...2,096,207
Ensembl chrNW_004936543:2,061,794...2,096,525 		JBrowse link
G Zc4h2 zinc finger C4H2-type containing ISO CTD Direct Evidence: marker/mechanism CTD PMID:26056227 NCBI chrNW_004936635:2,924,632...2,954,003
Ensembl chrNW_004936635:2,924,601...2,953,854 		JBrowse link
G Znf276 zinc finger protein 276 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:26689913 PMID:28202063 PMID:28492532 PMID:30032139 NCBI chrNW_004936641:305,423...332,312
Ensembl chrNW_004936641:320,143...332,424 		JBrowse link
G Znf668 zinc finger protein 668 ISO ClinVar Annotator: match by term: Progressive microcephaly ClinVar PMID:26633546 PMID:34313816 NCBI chrNW_004936501:13,423,491...13,442,329
Ensembl chrNW_004936501:13,422,989...13,426,060 		JBrowse link
G Zup1 zinc finger containing ubiquitin peptidase 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:24824130 NCBI chrNW_004937068:21,312...42,266
Ensembl chrNW_004937068:21,276...42,264 		JBrowse link
Microcephaly and Chorioretinopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tubgcp6 tubulin gamma complex component 6 ISO ClinVar Annotator: match by term: Microcephaly and chorioretinopathy with or without intellectual disability ClinVar PMID:25344692 PMID:25741868 PMID:28492532 NCBI chrNW_004936629:568,014...587,726
Ensembl chrNW_004936629:568,067...587,554 		JBrowse link
microcephaly and chorioretinopathy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kif11 kinesin family member 11 ISO ClinVar Annotator: match by term: Microcephaly and chorioretinopathy, autosomal recessive, 1 ClinVar PMID:25741868 NCBI chrNW_004936601:2,163,316...2,213,674
Ensembl chrNW_004936601:2,163,795...2,213,588 		JBrowse link
G Mylk myosin light chain kinase ISO ClinVar Annotator: match by term: Microcephaly and chorioretinopathy, autosomal recessive, 1 ClinVar PMID:28492532 PMID:28855619 NCBI chrNW_004936725:1,418,930...1,594,697
Ensembl chrNW_004936725:1,424,130...1,592,840 		JBrowse link
G Plk4 polo like kinase 4 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004936642:2,837,041...2,855,369
Ensembl chrNW_004936642:2,837,022...2,855,103 		JBrowse link
G Tp53bp1 tumor protein p53 binding protein 1 ISO ClinVar Annotator: match by term: Microcephaly with chorioretinopathy, autosomal recessive ClinVar PMID:24033266 PMID:25741868 PMID:25817018 PMID:28492532 NCBI chrNW_004936471:6,589,395...6,668,242
Ensembl chrNW_004936471:6,589,564...6,668,305 		JBrowse link
G Tubgcp4 tubulin gamma complex component 4 ISO ClinVar Annotator: match by term: Microcephaly with chorioretinopathy, autosomal recessive ClinVar PMID:24033266 PMID:25741868 PMID:25817018 PMID:28492532 NCBI chrNW_004936471:6,542,295...6,588,484
Ensembl chrNW_004936471:6,541,713...6,591,692 		JBrowse link
G Tubgcp6 tubulin gamma complex component 6 ISO ClinVar Annotator: match by term: Microcephaly and chorioretinopathy 1 OMIM
ClinVar		 PMID:5936364 PMID:9536098 PMID:17576681 PMID:22279524 PMID:25344692 More... NCBI chrNW_004936629:568,014...587,726
Ensembl chrNW_004936629:568,067...587,554 		JBrowse link
microcephaly and chorioretinopathy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Plk4 polo like kinase 4 ISO ClinVar Annotator: match by term: Microcephaly and chorioretinopathy 2 | ClinVar Annotator: match by term: PLK4-related condition OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:25320347 PMID:25344692 PMID:25741868 More... NCBI chrNW_004936642:2,837,041...2,855,369
Ensembl chrNW_004936642:2,837,022...2,855,103 		JBrowse link
microcephaly and chorioretinopathy 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tp53bp1 tumor protein p53 binding protein 1 ISO ClinVar Annotator: match by term: Microcephaly and chorioretinopathy 3 | ClinVar Annotator: match by term: Microcephaly and chorioretinopathy, autosomal recessive, 3 ClinVar PMID:24033266 PMID:25741868 PMID:25817018 PMID:28492532 NCBI chrNW_004936471:6,589,395...6,668,242
Ensembl chrNW_004936471:6,589,564...6,668,305 		JBrowse link
G Tubgcp4 tubulin gamma complex component 4 ISO ClinVar Annotator: match by term: Microcephaly and chorioretinopathy 3 | ClinVar Annotator: match by term: Microcephaly and chorioretinopathy, autosomal recessive, 3 OMIM
ClinVar		 PMID:16199547 PMID:24033266 PMID:25741868 PMID:25817018 PMID:28492532 NCBI chrNW_004936471:6,542,295...6,588,484
Ensembl chrNW_004936471:6,541,713...6,591,692 		JBrowse link
Microcephaly with Mental Retardation and Digital Anomalies term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rbbp8 RB binding protein 8, endonuclease ISO ClinVar Annotator: match by term: Jawad syndrome OMIM
ClinVar		 PMID:18071751 PMID:21998596 PMID:24389050 PMID:25741868 PMID:27848944 More... NCBI chrNW_004936550:2,482,915...2,554,077 JBrowse link
microcephaly with or without chorioretinopathy, lymphedema, or mental retardation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kif11 kinesin family member 11 ISO ClinVar Annotator: match by term: KIF11-related condition | ClinVar Annotator: match by term: MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR IMPAIRED INTELLECTUAL DEVELOPMENT | ClinVar Annotator: match by term: Microcephaly lymphedema chorioretinal dysplasia | ClinVar Annotator: match by term: Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation OMIM
ClinVar		 PMID:9536098 PMID:15930898 PMID:16199547 PMID:17576681 PMID:22284827 More... NCBI chrNW_004936601:2,163,316...2,213,674
Ensembl chrNW_004936601:2,163,795...2,213,588 		JBrowse link
Microcephaly with Simplified Gyral Pattern term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdh4 cadherin 4 ISO ClinVar Annotator: match by term: Simplified gyral pattern ClinVar PMID:29706646 NCBI chrNW_004936514:9,284,385...9,679,036
Ensembl chrNW_004936514:9,563,847...9,675,636 		JBrowse link
Microcephaly with Spastic Quadriplegia 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: Recessive microcephaly with spastic quadriplegia ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936504:12,226,771...12,244,959
Ensembl chrNW_004936504:12,229,995...12,242,487 		JBrowse link
G Rnf14 ring finger protein 14 ISO ClinVar Annotator: match by term: Recessive microcephaly with spastic quadriplegia ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936504:12,200,395...12,217,454
Ensembl chrNW_004936504:12,200,388...12,217,518 		JBrowse link
Microcephaly, Cataracts, Impaired Intellectual Development, and Dystonia with Abnormal Striatum term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcna4 potassium voltage-gated channel subfamily A member 4 ISO ClinVar Annotator: match by term: Microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum OMIM
ClinVar		 PMID:23181898 PMID:25741868 PMID:27582084 NCBI chrNW_004936533:7,588,965...7,596,467
Ensembl chrNW_004936533:7,588,950...7,596,696 		JBrowse link
Microcephaly, Congenital Cataract, and Psoriasiform Dermatitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Msmo1 methylsterol monooxygenase 1 ISO ClinVar Annotator: match by term: Microcephaly, congenital cataract, and psoriasiform dermatitis OMIM
ClinVar		 PMID:21285510 PMID:24144731 NCBI chrNW_004936555:664,171...678,082
Ensembl chrNW_004936555:664,158...678,208 		JBrowse link
MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cars1 cysteinyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Microcephaly, developmental delay, and brittle hair syndrome OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:30824121 NCBI chrNW_004936794:1,115,111...1,165,286
Ensembl chrNW_004936794:1,115,257...1,165,270 		JBrowse link
Microcephaly, Epilepsy, and Diabetes Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ark2c arkadia (RNF111) C-terminal like ring finger ubiquitin ligase 2C ISO ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome ClinVar PMID:28492532 NCBI chrNW_004936517:428,689...531,360
Ensembl chrNW_004936517:429,292...531,361 		JBrowse link
G Ark2n arkadia (RNF111) N-terminal like PKA signaling regulator 2N ISO ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome ClinVar PMID:28492532 NCBI chrNW_004936517:598,809...689,540
Ensembl chrNW_004936517:598,772...688,893 		JBrowse link
G Atp5f1a ATP synthase F1 subunit alpha ISO ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome ClinVar PMID:28492532 NCBI chrNW_004936517:743,036...752,836
Ensembl chrNW_004936517:742,791...753,336 		JBrowse link
G Epg5 ectopic P-granules 5 autophagy tethering factor ISO ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome ClinVar PMID:28492532 NCBI chrNW_004936517:841,402...941,054
Ensembl chrNW_004936517:841,411...939,581 		JBrowse link
G Haus1 HAUS augmin like complex subunit 1 ISO ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome ClinVar PMID:28492532 NCBI chrNW_004936517:721,841...742,989
Ensembl chrNW_004936517:721,837...741,482 		JBrowse link
G Hdhd2 haloacid dehalogenase like hydrolase domain containing 2 ISO ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome ClinVar PMID:28492532 NCBI chrNW_004936983:77,844...119,137
Ensembl chrNW_004936983:77,858...119,108 		JBrowse link
G Katnal2 katanin catalytic subunit A1 like 2 ISO ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome ClinVar PMID:28492532 NCBI chrNW_004936983:37,876...75,556
Ensembl chrNW_004936983:25,386...73,791 		JBrowse link
G LOC101965929 urea transporter 2 ISO ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome ClinVar PMID:28492532 NCBI chrNW_004936517:1,060,311...1,104,775
Ensembl chrNW_004936517:1,061,119...1,104,768 		JBrowse link
G LOC101976443 lipoxygenase homology PLAT domains 1 ISO ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome ClinVar PMID:28492532 NCBI chrNW_004936517:271,909...409,818
Ensembl chrNW_004936517:271,909...409,691 		JBrowse link
G Pias2 protein inhibitor of activated STAT 2 ISO ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome ClinVar PMID:28492532 NCBI chrNW_004936517:72,676...152,926
Ensembl chrNW_004936517:82,332...144,586 		JBrowse link
G Pstpip2 proline-serine-threonine phosphatase interacting protein 2 ISO ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome ClinVar PMID:28492532 NCBI chrNW_004936517:766,246...830,735
Ensembl chrNW_004936517:765,725...830,761 		JBrowse link
G Setbp1 SET binding protein 1 ISO ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome ClinVar PMID:28492532 NCBI chrNW_004936517:1,616,169...1,798,002
Ensembl chrNW_004936517:1,616,169...1,970,398 		JBrowse link
G Siglec15 sialic acid binding Ig like lectin 15 ISO ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome ClinVar PMID:28492532 NCBI chrNW_004936517:945,345...960,591
Ensembl chrNW_004936517:946,341...953,674 		JBrowse link
G Skor2 SKI family transcriptional corepressor 2 ISO ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome ClinVar PMID:28492532 NCBI chrNW_004936983:156,466...197,281
Ensembl chrNW_004936983:161,836...197,276 		JBrowse link
G Slc14a1 solute carrier family 14 member 1 (Kidd blood group) ISO ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome ClinVar PMID:28492532 NCBI chrNW_004936517:1,015,069...1,039,474
Ensembl chrNW_004936517:1,015,036...1,039,529 		JBrowse link
G Smad2 SMAD family member 2 ISO ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome ClinVar PMID:28492532 NCBI chrNW_004936497:14,723,199...14,812,160
Ensembl chrNW_004936497:14,723,199...14,801,697 		JBrowse link
G St8sia5 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5 ISO ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome ClinVar PMID:28492532 NCBI chrNW_004936517:186,465...262,622
Ensembl chrNW_004936517:186,452...253,513 		JBrowse link
Microcephaly, Epilepsy, and Diabetes Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Yipf5 Yip1 domain family member 5 ISO ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome 2 OMIM
ClinVar		 PMID:25741868 PMID:33164986 NCBI chrNW_004936504:10,265,506...10,278,522
Ensembl chrNW_004936504:10,265,477...10,282,108 		JBrowse link
Microcephaly, Facial Dysmorphism, Renal Agenesis, and Ambiguous Genitalia Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctu2 cytosolic thiouridylase subunit 2 ISO ClinVar Annotator: match by term: Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome OMIM
ClinVar		 PMID:25081361 PMID:25741868 PMID:25741916 PMID:26633546 PMID:27480277 More... NCBI chrNW_004936641:980,493...986,015
Ensembl chrNW_004936641:980,533...984,506 		JBrowse link
G Piezo1 piezo type mechanosensitive ion channel component 1 (Er blood group) ISO ClinVar Annotator: match by term: Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936641:932,291...980,440
Ensembl chrNW_004936641:932,577...980,233 		JBrowse link
microcephaly, growth deficiency, seizures, and brain malformations term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wdr4 WD repeat domain 4 ISO ClinVar Annotator: match by term: Microcephaly, growth deficiency, seizures, and brain malformations | ClinVar Annotator: match by term: WDR4-related condition OMIM
ClinVar		 PMID:25741868 PMID:26416026 PMID:28492532 NCBI chrNW_004936500:1,144,190...1,162,925
Ensembl chrNW_004936500:1,144,097...1,167,296 		JBrowse link
Microcephaly, Growth Restriction, and Increased Sister Chromatid Exchange 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Top3a DNA topoisomerase III alpha ISO ClinVar Annotator: match by term: Microcephaly, growth restriction, and increased sister chromatid exchange 2 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:30057030 NCBI chrNW_004936741:1,809,371...1,838,711
Ensembl chrNW_004936741:1,809,909...1,838,734 		JBrowse link
microcephaly, seizures, and developmental delay term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nusap1 nucleolar and spindle associated protein 1 ISO ClinVar Annotator: match by term: Microcephaly, seizures, and developmental delay ClinVar PMID:25741868 NCBI chrNW_004936471:4,705,757...4,732,446
Ensembl chrNW_004936471:4,705,866...4,731,903 		JBrowse link
G Pnkp polynucleotide kinase 3'-phosphatase ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 10 | ClinVar Annotator: match by term: Microcephaly, seizures, and developmental delay OMIM
ClinVar		 PMID:9536098 PMID:10446192 PMID:11704758 PMID:15136689 PMID:16199547 More... NCBI chrNW_004936664:3,649,020...3,656,545
Ensembl chrNW_004936664:3,649,833...3,656,035 		JBrowse link
Microcephaly, Short Stature, and Impaired Glucose Metabolism 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trmt10a tRNA methyltransferase 10A ISO ClinVar Annotator: match by term: Microcephaly, short stature, and impaired glucose metabolism 1 OMIM
ClinVar		 PMID:24204302 PMID:25053765 PMID:25741868 PMID:26535115 PMID:28492532 NCBI chrNW_004936520:3,400,029...3,413,867
Ensembl chrNW_004936520:3,400,019...3,417,843 		JBrowse link
Microcephaly, Short Stature, and Impaired Glucose Metabolism 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ppp1r15b protein phosphatase 1 regulatory subunit 15B ISO ClinVar Annotator: match by term: Microcephaly, short stature, and impaired glucose metabolism 2 OMIM
ClinVar		 PMID:25741868 PMID:26159176 PMID:26307080 PMID:28492532 NCBI chrNW_004936567:388,623...397,723
Ensembl chrNW_004936567:388,774...397,855 		JBrowse link
Microcephaly, Short Stature, and Polymicrogyria with or without Seizures term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rttn rotatin ISO ClinVar Annotator: match by term: MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH SEIZURES | ClinVar Annotator: match by term: Microcephaly, short stature, and polymicrogyria with or without seizures | ClinVar Annotator: match by term: RTTN-related condition OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:22939636 More... NCBI chrNW_004936964:1,369...71,142 JBrowse link
Microcephaly-Capillary Malformation Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Stambp STAM binding protein ISO ClinVar Annotator: match by term: Microcephaly-capillary malformation syndrome | ClinVar Annotator: match by term: STAMBP-related condition OMIM
ClinVar		 PMID:18414213 PMID:21271646 PMID:21815250 PMID:23542699 PMID:25326635 More... NCBI chrNW_004936556:143,483...174,383 JBrowse link
microcephaly-micromelia syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Donson DNA replication fork stabilization factor DONSON ISO ClinVar Annotator: match by term: Microcephaly-micromelia syndrome OMIM
ClinVar		 PMID:25741868 PMID:28191891 PMID:28331220 PMID:28492532 PMID:28630177 More... NCBI chrNW_004936500:8,712,168...8,720,728
Ensembl chrNW_004936500:8,712,205...8,739,953 		JBrowse link
Microhydranencephaly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nde1 nudE neurodevelopment protein 1 ISO ClinVar Annotator: match by term: Hydranencephaly and microcephaly OMIM
ClinVar		 PMID:10762554 PMID:18414213 PMID:22526350 PMID:25326635 PMID:25332407 More... NCBI chrNW_004936501:3,193,962...3,234,640
Ensembl chrNW_004936501:3,193,916...3,221,700 		JBrowse link
Mosaic Variegated Aneuploidy Syndrome 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slf2 SMC5-SMC6 complex localization factor 2 ISO ClinVar Annotator: match by term: Atelis syndrome 1 OMIM
ClinVar		 PMID:36333305 NCBI chrNW_004936600:4,715,504...4,766,273
Ensembl chrNW_004936600:4,721,327...4,765,915 		JBrowse link
Mosaic Variegated Aneuploidy Syndrome 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Smc5 structural maintenance of chromosomes 5 ISO ClinVar Annotator: match by term: Atelis syndrome 2 OMIM
ClinVar		 PMID:36333305 NCBI chrNW_004936503:6,388,556...6,483,293
Ensembl chrNW_004936503:6,388,487...6,483,333 		JBrowse link
Mowat-Wilson syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adnp activity dependent neuroprotector homeobox ISO ClinVar Annotator: match by term: Hirschsprung disease mental retardation syndrome ClinVar PMID:25741868 NCBI chrNW_004936514:3,855,113...3,883,036
Ensembl chrNW_004936514:3,855,672...3,885,718 		JBrowse link
G Arhgap15 Rho GTPase activating protein 15 ISO ClinVar Annotator: match by term: Mowat-Wilson syndrome ClinVar NCBI chrNW_004936469:33,203,456...33,554,167
Ensembl chrNW_004936469:32,951,231...33,528,407 		JBrowse link
G Gtdc1 glycosyltransferase like domain containing 1 ISO ClinVar Annotator: match by term: Mowat-Wilson syndrome ClinVar PMID:12920073 NCBI chrNW_004936469:32,514,679...32,791,418
Ensembl chrNW_004936469:32,539,891...32,790,374 		JBrowse link
G Hnmt histamine N-methyltransferase ISO ClinVar Annotator: match by term: Mowat-Wilson syndrome ClinVar NCBI chrNW_004936469:38,125,877...38,166,429
Ensembl chrNW_004936469:38,122,454...38,166,398 		JBrowse link
G Kynu kynureninase ISO ClinVar Annotator: match by term: Mowat-Wilson syndrome ClinVar NCBI chrNW_004936469:33,632,885...33,805,158
Ensembl chrNW_004936469:33,632,892...33,734,433 		JBrowse link
G Lrp1b LDL receptor related protein 1B ISO ClinVar Annotator: match by term: Mowat-Wilson syndrome ClinVar NCBI chrNW_004936469:35,000,773...36,160,216
Ensembl chrNW_004936469:35,203,594...36,159,283 		JBrowse link
G Nxph2 neurexophilin 2 ISO ClinVar Annotator: match by term: Mowat-Wilson syndrome ClinVar NCBI chrNW_004936469:37,402,071...37,509,488
Ensembl chrNW_004936469:37,402,858...37,509,500 		JBrowse link
G Spopl speckle type BTB/POZ protein like ISO ClinVar Annotator: match by term: Mowat-Wilson syndrome ClinVar NCBI chrNW_004936469:37,608,044...37,661,337
Ensembl chrNW_004936469:37,603,803...37,661,436 		JBrowse link
G Thsd7b thrombospondin type 1 domain containing 7B ISO ClinVar Annotator: match by term: Mowat-Wilson syndrome ClinVar NCBI chrNW_004936469:38,421,034...39,231,110
Ensembl chrNW_004936469:38,419,415...39,121,981 		JBrowse link
G Zeb2 zinc finger E-box binding homeobox 2 ISO ClinVar Annotator: match by term: Mowat-Wilson syndrome | ClinVar Annotator: match by term: ZEB2-related condition OMIM
ClinVar		 PMID:2030158 PMID:9536098 PMID:9719364 PMID:11279515 PMID:11448942 More... NCBI chrNW_004936469:32,240,730...32,372,413
Ensembl chrNW_004936469:32,240,835...32,371,267 		JBrowse link
Nabais Sa-de Vries Syndrome, Type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Spop speckle type BTB/POZ protein ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly and dysmorphic facies OMIM
ClinVar		 PMID:25741868 PMID:32109420 NCBI chrNW_004936490:11,894,449...11,969,730
Ensembl chrNW_004936490:11,894,406...11,970,155 		JBrowse link
Neu-Laxova syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Phgdh phosphoglycerate dehydrogenase ISO ClinVar Annotator: match by term: Neu-Laxova syndrome 1 OMIM
ClinVar		 PMID:9536098 PMID:11034457 PMID:11055895 PMID:11751922 PMID:14645240 More... NCBI chrNW_004936627:4,414,122...4,448,347
Ensembl chrNW_004936627:4,414,122...4,448,623 		JBrowse link
G Psat1 phosphoserine aminotransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004936632:4,392,165...4,422,670
Ensembl chrNW_004936632:4,391,459...4,423,264 		JBrowse link
NEURODEGENERATION, CHILDHOOD-ONSET, WITH PROGRESSIVE MICROCEPHALY term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dtymk deoxythymidylate kinase ISO ClinVar Annotator: match by term: Neurodegeneration, childhood-onset, with progressive microcephaly OMIM
ClinVar		 PMID:31271740 PMID:34918187 PMID:34926941 NCBI chrNW_004936745:282,199...289,273 JBrowse link
NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Svbp small vasohibin binding protein ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with ataxia, hypotonia, and microcephaly OMIM
ClinVar		 PMID:25741868 PMID:30607023 PMID:31363758 NCBI chrNW_004936474:24,128,633...24,135,231
Ensembl chrNW_004936474:24,126,278...24,135,237 		JBrowse link
Neurodevelopmental Disorder with Epilepsy, Spasticity, and Brain Atrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trappc4 trafficking protein particle complex subunit 4 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy OMIM
ClinVar		 PMID:25741868 PMID:31794024 PMID:32125366 PMID:32901138 PMID:34878169 NCBI chrNW_004936542:3,977,223...3,980,168
Ensembl chrNW_004936542:3,977,358...3,979,906 		JBrowse link
Neurodevelopmental Disorder with Hypotonia, Microcephaly, and Seizures term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adarb1 adenosine deaminase RNA specific B1 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, microcephaly, and seizures OMIM
ClinVar		 PMID:25741868 PMID:32220291 PMID:32719099 NCBI chrNW_004936778:1,056,259...1,137,772
Ensembl chrNW_004936778:1,053,871...1,137,828 		JBrowse link
G Cpsf3 cleavage and polyadenylation specific factor 3 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, microcephaly, and seizures ClinVar PMID:35121750 NCBI chrNW_004936532:5,814,331...5,850,188
Ensembl chrNW_004936532:5,814,329...5,850,352 		JBrowse link
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND MOVEMENT ABNORMALITIES term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tti1 TELO2 interacting protein 1 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly and movement abnormalities OMIM
ClinVar		 PMID:26539891 PMID:36724785 NCBI chrNW_004936561:3,303,258...3,353,487
Ensembl chrNW_004936561:3,303,212...3,354,294 		JBrowse link
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND SPEECH DELAY, WITH OR WITHOUT BRAIN ABNORMALITIES term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wars1 tryptophanyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly and speech delay, with or without brain abnormalities OMIM
ClinVar		 PMID:25741868 PMID:34585293 PMID:35790048 PMID:35815345 NCBI chrNW_004936604:3,985,002...4,016,870
Ensembl chrNW_004936604:3,984,872...4,016,911 		JBrowse link
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND STRUCTURAL BRAIN ANOMALIES term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dync1i2 dynein cytoplasmic 1 intermediate chain 2 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly and structural brain anomalies OMIM
ClinVar		 PMID:25741868 PMID:31079899 NCBI chrNW_004936509:1,915,006...1,969,857
Ensembl chrNW_004936509:1,914,893...1,973,943 		JBrowse link
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adgrg1 adhesion G protein-coupled receptor G1 ISO ClinVar Annotator: match by term: Abnormality of the cerebrum ClinVar NCBI chrNW_004936475:9,653,233...9,683,258
Ensembl chrNW_004936475:9,671,868...9,681,988 		JBrowse link
G Asns asparagine synthetase (glutamine-hydrolyzing) ISO ClinVar Annotator: match by term: Abnormality of the cerebrum ClinVar NCBI chrNW_004936585:2,834,202...2,854,740
Ensembl chrNW_004936585:2,834,008...2,855,387 		JBrowse link
G Cdkl5 cyclin dependent kinase like 5 ISO ClinVar Annotator: match by term: Abnormality of the cerebrum ClinVar PMID:25657822 PMID:25741868 PMID:27770071 PMID:28492532 NCBI chrNW_004936844:101,815...271,254
Ensembl chrNW_004936844:160,833...271,901 		JBrowse link
G Col4a1 collagen type IV alpha 1 chain ISO ClinVar Annotator: match by term: Abnormality of the cerebrum ClinVar NCBI chrNW_004936472:2,416,043...2,543,561
Ensembl chrNW_004936472:2,416,566...2,542,814 		JBrowse link
G Crebbp CREB binding protein ISO ClinVar Annotator: match by term: Abnormality of the cerebrum ClinVar PMID:25741868 NCBI chrNW_004936694:552,447...663,237
Ensembl chrNW_004936694:553,753...663,617 		JBrowse link
G Dcx doublecortin ISO ClinVar Annotator: match by term: Abnormality of the cerebrum ClinVar PMID:11175293 PMID:11468322 PMID:18414213 PMID:18685874 PMID:23365099 More... NCBI chrNW_004936499:3,905,262...4,004,457
Ensembl chrNW_004936499:3,903,376...4,005,508 		JBrowse link
G Ddx3x DEAD-box helicase 3 X-linked ISO ClinVar Annotator: match by term: Abnormality of the cerebrum ClinVar NCBI chrNW_004936502:7,770,896...7,820,555
Ensembl chrNW_004936502:7,804,824...7,820,569 		JBrowse link
G Depdc5 DEP domain containing 5, GATOR1 subcomplex subunit ISO ClinVar Annotator: match by term: Abnormality of the cerebrum ClinVar NCBI chrNW_004936755:871,935...1,024,538
Ensembl chrNW_004936755:872,815...1,024,057 		JBrowse link
G Dync1h1 dynein cytoplasmic 1 heavy chain 1 ISO ClinVar Annotator: match by term: Abnormality of the cerebrum ClinVar NCBI chrNW_004936835:225,879...290,160
Ensembl chrNW_004936835:225,324...289,954 		JBrowse link
G Flna filamin A ISO ClinVar Annotator: match by term: Abnormality of the cerebrum ClinVar NCBI chrNW_004936809:1,097,288...1,123,206
Ensembl chrNW_004936809:1,097,294...1,123,201 		JBrowse link
G Foxg1 forkhead box G1 ISO ClinVar Annotator: match by term: Abnormality of the cerebrum ClinVar PMID:19806373 PMID:21441262 PMID:22190898 PMID:23757202 PMID:24836831 More... NCBI chrNW_004936494:3,738,419...3,740,419
Ensembl chrNW_004936494:3,736,120...3,739,498 		JBrowse link
G Grin2a glutamate ionotropic receptor NMDA type subunit 2A ISO ClinVar Annotator: match by term: Abnormality of the cerebrum ClinVar PMID:7574460 PMID:16199547 PMID:23933818 PMID:23933819 PMID:23933820 More... NCBI chrNW_004936530:8,286,101...8,612,183
Ensembl chrNW_004936530:8,287,574...8,608,343 		JBrowse link
G Kcnc1 potassium voltage-gated channel subfamily C member 1 ISO ClinVar Annotator: match by term: Abnormality of the cerebrum ClinVar PMID:28492532 NCBI chrNW_004936528:1,351,687...1,393,926
Ensembl chrNW_004936528:1,351,689...1,393,932 		JBrowse link
G Kif2a kinesin family member 2A ISO ClinVar Annotator: match by term: Abnormality of the cerebrum ClinVar NCBI chrNW_004936480:6,324,214...6,357,696
Ensembl chrNW_004936480:6,324,216...6,357,741 		JBrowse link
G LOC101972766 tubulin alpha-1A chain ISO ClinVar Annotator: match by term: Abnormality of the cerebrum ClinVar PMID:25741868 NCBI chrNW_004936512:6,959,656...6,964,299
Ensembl chrNW_004936512:6,958,985...6,964,299 		JBrowse link
G Pafah1b1 platelet activating factor acetylhydrolase 1b regulatory subunit 1 ISO ClinVar Annotator: match by term: Abnormality of the cerebrum ClinVar PMID:28492532 NCBI chrNW_004936538:8,612,142...8,693,698
Ensembl chrNW_004936538:8,612,049...8,694,015 		JBrowse link
G Pcdh19 protocadherin 19 ISO ClinVar Annotator: match by term: Abnormality of the cerebrum ClinVar PMID:26704558 PMID:28492532 NCBI chrNW_004936584:5,568,740...5,668,095
Ensembl chrNW_004936584:5,568,728...5,668,116 		JBrowse link
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha ISO ClinVar Annotator: match by term: Abnormality of the cerebrum ClinVar PMID:19366826 PMID:22228622 PMID:22729224 PMID:22949682 PMID:25157968 More... NCBI chrNW_004936566:3,924,013...3,951,052
Ensembl chrNW_004936566:3,923,934...3,951,073 		JBrowse link
G Pnkp polynucleotide kinase 3'-phosphatase ISO ClinVar Annotator: match by term: Abnormality of the cerebrum ClinVar PMID:11112660 PMID:15749016 PMID:24033266 PMID:25741868 PMID:26467025 More... NCBI chrNW_004936664:3,649,020...3,656,545
Ensembl chrNW_004936664:3,649,833...3,656,035 		JBrowse link
G Rnf113a ring finger protein 113A ISO ClinVar Annotator: match by term: Abnormality of the cerebrum ClinVar NCBI chrNW_004936479:10,078,201...10,079,400
Ensembl chrNW_004936479:10,078,304...10,079,338 		JBrowse link
G Scn2a sodium voltage-gated channel alpha subunit 2 ISO ClinVar Annotator: match by term: Abnormality of the cerebrum ClinVar NCBI chrNW_004936469:13,872,701...14,019,170
Ensembl chrNW_004936469:13,872,701...13,971,005 		JBrowse link
G Scn8a sodium voltage-gated channel alpha subunit 8 ISO ClinVar Annotator: match by term: Abnormality of the cerebrum ClinVar PMID:25741868 PMID:28492532 PMID:35701389 NCBI chrNW_004936512:9,164,310...9,281,795
Ensembl chrNW_004936512:9,164,262...9,279,688 		JBrowse link
G Smarca2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 ISO ClinVar Annotator: match by term: Abnormality of the cerebrum ClinVar NCBI chrNW_004936503:2,835,512...3,001,365
Ensembl chrNW_004936503:2,835,496...3,001,381 		JBrowse link
G Smpd4 sphingomyelin phosphodiesterase 4 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies OMIM
ClinVar		 PMID:25741868 PMID:25741909 PMID:31495489 NCBI chrNW_004936619:2,647,880...2,676,371
Ensembl chrNW_004936619:2,647,967...2,676,488 		JBrowse link
G Tubb3 tubulin beta 3 class III ISO ClinVar Annotator: match by term: Abnormality of the cerebrum ClinVar PMID:18414213 PMID:25741868 PMID:26130693 PMID:28492532 PMID:28677066 More... NCBI chrNW_004936641:184,736...193,835
Ensembl chrNW_004936641:184,765...193,819 		JBrowse link
G Wdr62 WD repeat domain 62 ISO ClinVar Annotator: match by term: Abnormality of the cerebrum ClinVar PMID:18414213 PMID:25741868 PMID:28492532 PMID:31589614 PMID:33502066 More... NCBI chrNW_004936922:80,136...119,702
Ensembl chrNW_004936922:80,217...119,653 		JBrowse link
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ATAXIA, AND SEIZURES term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sars1 seryl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, ataxia, and seizures | ClinVar Annotator: match by term: SARS1-related disorders OMIM
ClinVar		 PMID:25741868 PMID:28236339 PMID:34570399 PMID:35790048 PMID:36004946 More... NCBI chrNW_004936704:747,109...766,981
Ensembl chrNW_004936704:746,775...771,305 		JBrowse link
neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gemin4 gem nuclear organelle associated protein 4 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities OMIM
ClinVar		 PMID:25558065 PMID:25741868 PMID:27878435 PMID:30237576 NCBI chrNW_004936538:7,033,354...7,040,178
Ensembl chrNW_004936538:7,004,175...7,043,459 		JBrowse link
Neurodevelopmental Disorder with Microcephaly, Cerebral Atrophy, and Visual Impairment term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dohh deoxyhypusine hydroxylase ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment OMIM
ClinVar		 PMID:25741868 PMID:35858628 NCBI chrNW_004936588:1,978,487...1,985,056
Ensembl chrNW_004936588:1,974,092...1,985,320 		JBrowse link
Neurodevelopmental Disorder with Microcephaly, Cortical Malformations, and Spasticity term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmx2 thioredoxin related transmembrane protein 2 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity OMIM
ClinVar		 PMID:25741868 PMID:25741916 PMID:31586943 PMID:31735293 NCBI chrNW_004936581:4,818,626...4,830,878
Ensembl chrNW_004936581:4,818,264...4,831,575 		JBrowse link
Neurodevelopmental Disorder with Microcephaly, Epilepsy, and Hypomyelination term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mthfs methenyltetrahydrofolate synthetase ISO ClinVar Annotator: match by term: MTHFS-related condition | ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:30031689 NCBI chrNW_004936471:37,910,856...37,964,655
Ensembl chrNW_004936471:37,902,554...37,964,812 		JBrowse link
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND ABSENT LANGUAGE term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Psmb1 proteasome 20S subunit beta 1 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, hypotonia, and absent language ClinVar
OMIM		 PMID:32129449 NCBI chrNW_004937098:67,298...80,019
Ensembl chrNW_004937098:66,832...81,708 		JBrowse link
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND VARIABLE BRAIN ANOMALIES term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dync1i2 dynein cytoplasmic 1 intermediate chain 2 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies ClinVar PMID:25741868 PMID:31079899 NCBI chrNW_004936509:1,915,006...1,969,857
Ensembl chrNW_004936509:1,914,893...1,973,943 		JBrowse link
G Prune1 prune exopolyphosphatase 1 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies OMIM
ClinVar		 PMID:25741868 PMID:25741916 PMID:26539891 PMID:28211990 PMID:28334956 More... NCBI chrNW_004936580:1,231,197...1,253,686
Ensembl chrNW_004936580:1,230,820...1,254,949 		JBrowse link
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, NYSTAGMUS, AND SEIZURES term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cpsf3 cleavage and polyadenylation specific factor 3 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, hypotonia, nystagmus, and seizures OMIM
ClinVar		 NCBI chrNW_004936532:5,814,331...5,850,188
Ensembl chrNW_004936532:5,814,329...5,850,352 		JBrowse link
G Ywhaq tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein theta ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, hypotonia, nystagmus, and seizures ClinVar NCBI chrNW_004936532:5,931,677...5,938,569 JBrowse link
Neurodevelopmental Disorder with Microcephaly, Impaired Language, and Gait Abnormalities term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nars1 asparaginyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities OMIM
ClinVar		 PMID:25741868 PMID:25741905 PMID:28492532 PMID:32738225 PMID:32788587 More... NCBI chrNW_004936497:6,727,676...6,745,187
Ensembl chrNW_004936497:6,727,676...6,745,417 		JBrowse link
Neurodevelopmental Disorder with Microcephaly, Impaired Language, Epilepsy, and Gait Abnormalities term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nars1 asparaginyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:32738225 NCBI chrNW_004936497:6,727,676...6,745,187
Ensembl chrNW_004936497:6,727,676...6,745,417 		JBrowse link
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, MOVEMENT ABNORMALITIES, AND SEIZURES term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chka choline kinase alpha ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, movement abnormalities, and seizures ClinVar PMID:25741868 PMID:35202461 NCBI chrNW_004936599:2,031,953...2,068,423
Ensembl chrNW_004936599:2,001,673...2,067,399 		JBrowse link
G Nsrp1 nuclear speckle splicing regulatory protein 1 ISO OMIM NCBI chrNW_004936538:6,138,993...6,184,730
Ensembl chrNW_004936538:6,138,962...6,184,837 		JBrowse link
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND BRAIN ATROPHY term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Exoc8 exocyst complex component 8 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, seizures, and brain atrophy OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:32103185 NCBI chrNW_004936484:19,403,458...19,407,202
Ensembl chrNW_004936484:19,403,458...19,405,197 		JBrowse link
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND NEONATAL CHOLESTASIS term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Vps50 VPS50 subunit of EARP/GARPII complex ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasis OMIM
ClinVar		 PMID:25741909 PMID:34037727 NCBI chrNW_004936803:530,543...651,461
Ensembl chrNW_004936803:530,402...651,502 		JBrowse link
Neurodevelopmental Disorder with Progressive Microcephaly, Spasticity, and Brain Anomalies term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hecw2 HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies ClinVar PMID:23545411 PMID:25741868 PMID:27389779 NCBI chrNW_004936506:2,704,885...2,913,663
Ensembl chrNW_004936506:2,558,249...2,909,110 		JBrowse link
G Plaa phospholipase A2 activating protein ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies OMIM
ClinVar		 PMID:25741868 PMID:28007986 PMID:28413018 PMID:28492532 PMID:31322726 NCBI chrNW_004936611:2,665,294...2,698,372
Ensembl chrNW_004936611:2,665,370...2,700,538 		JBrowse link
G Trappc4 trafficking protein particle complex subunit 4 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies ClinVar PMID:25741868 PMID:31794024 PMID:32125366 PMID:32901138 NCBI chrNW_004936542:3,977,223...3,980,168
Ensembl chrNW_004936542:3,977,358...3,979,906 		JBrowse link
Neurodevelopmental Disorder with Seizures, Microcephaly, and Brain Abnormalities term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ppfibp1 PPFIA binding protein 1 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities ClinVar
OMIM		 PMID:25741868 PMID:35830857 NCBI chrNW_004937395:28,813...79,109 JBrowse link
Nijmegen Breakage Syndrome-Like Disorder term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rad50 RAD50 double strand break repair protein ISO ClinVar Annotator: match by term: Nijmegen breakage syndrome-like disorder | ClinVar Annotator: match by term: RAD50 DEFICIENCY OMIM
ClinVar		 PMID:1887849 PMID:9536098 PMID:10892749 PMID:14684699 PMID:15855896 More... NCBI chrNW_004936647:2,546,100...2,637,524
Ensembl chrNW_004936647:2,543,599...2,637,846 		JBrowse link
non-syndromic X-linked intellectual disability 93 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Brwd3 bromodomain and WD repeat domain containing 3 ISO ClinVar Annotator: match by term: BRWD3-Related Disorder | ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED, WITH MACROCEPHALY | ClinVar Annotator: match by term: X-linked intellectual developmental disorder-93 OMIM
ClinVar		 PMID:7943039 PMID:17668385 PMID:18414213 PMID:25326637 PMID:25741868 More... NCBI chrNW_004936547:2,236,164...2,354,652
Ensembl chrNW_004936547:2,240,314...2,354,796 		JBrowse link
pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tubgcp2 tubulin gamma complex component 2 ISO ClinVar Annotator: match by term: Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures OMIM
ClinVar		 PMID:25741868 PMID:31630790 PMID:32368696 PMID:33458610 NCBI chrNW_004936486:19,404,651...19,423,601
Ensembl chrNW_004936486:19,402,526...19,421,976 		JBrowse link
PHGDH deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adam30 ADAM metallopeptidase domain 30 ISO ClinVar Annotator: match by term: PHGDH deficiency ClinVar PMID:28492532 NCBI chrNW_004936872:578,616...580,853 JBrowse link
G Hao2 hydroxyacid oxidase 2 ISO ClinVar Annotator: match by term: PHGDH deficiency ClinVar PMID:14645240 PMID:24836451 PMID:28492532 NCBI chrNW_004936627:4,167,501...4,179,596
Ensembl chrNW_004936627:4,159,214...4,179,806 		JBrowse link
G Hmgcs2 3-hydroxy-3-methylglutaryl-CoA synthase 2 ISO ClinVar Annotator: match by term: PHGDH deficiency ClinVar PMID:28492532 NCBI chrNW_004936627:4,451,847...4,473,163
Ensembl chrNW_004936627:4,451,823...4,473,223 		JBrowse link
G LOC101965998 notch receptor 2 ISO ClinVar Annotator: match by term: PHGDH deficiency ClinVar PMID:28492532 NCBI chrNW_004936872:454,273...539,544
Ensembl chrNW_004936872:390,852...536,321 		JBrowse link
G Phgdh phosphoglycerate dehydrogenase ISO ClinVar Annotator: match by term: PHGDH deficiency | ClinVar Annotator: match by term: Phosphoglycerate dehydrogenase deficiency OMIM
ClinVar		 PMID:9536098 PMID:11034457 PMID:11055895 PMID:11751922 PMID:14645240 More... NCBI chrNW_004936627:4,414,122...4,448,347
Ensembl chrNW_004936627:4,414,122...4,448,623 		JBrowse link
G Reg4 regenerating family member 4 ISO ClinVar Annotator: match by term: PHGDH deficiency ClinVar PMID:28492532 NCBI chrNW_004936627:4,512,726...4,520,080
Ensembl chrNW_004936627:4,512,726...4,520,080 		JBrowse link
G Tbx15 T-box transcription factor 15 ISO ClinVar Annotator: match by term: PHGDH deficiency ClinVar PMID:14645240 PMID:24836451 PMID:28492532 NCBI chrNW_004936627:3,745,399...3,852,861
Ensembl chrNW_004936627:3,745,287...3,853,309 		JBrowse link
G Wars2 tryptophanyl tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: PHGDH deficiency ClinVar PMID:14645240 PMID:24836451 PMID:28492532 NCBI chrNW_004936627:3,890,629...3,963,169
Ensembl chrNW_004936627:3,890,629...3,962,899 		JBrowse link
G Znf697 zinc finger protein 697 ISO ClinVar Annotator: match by term: PHGDH deficiency ClinVar PMID:14645240 PMID:24836451 PMID:28492532 NCBI chrNW_004936627:4,330,997...4,357,575
Ensembl chrNW_004936627:4,328,407...4,334,969 		JBrowse link
Polydactyly-Macrocephaly Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Max MYC associated factor X ISO ClinVar Annotator: match by term: Polydactyly-macrocephaly syndrome OMIM
ClinVar		 PMID:27903915 PMID:28492532 PMID:38141607 NCBI chrNW_004936495:8,728,941...8,755,742
Ensembl chrNW_004936495:8,728,940...8,755,799 		JBrowse link
polyhydramnios, megalencephaly, and symptomatic epilepsy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Strada STE20 related adaptor alpha ISO ClinVar Annotator: match by term: PMSE SYNDROME | ClinVar Annotator: match by term: Polyhydramnios, megalencephaly, and symptomatic epilepsy OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17522105 PMID:17576681 PMID:20424326 More... NCBI chrNW_004936541:4,352,613...4,385,499
Ensembl chrNW_004936541:4,349,878...4,385,596 		JBrowse link
porencephaly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col4a1 collagen type IV alpha 1 chain ISO ClinVar Annotator: match by term: Porencephaly ClinVar PMID:25741868 NCBI chrNW_004936472:2,416,043...2,543,561
Ensembl chrNW_004936472:2,416,566...2,542,814 		JBrowse link
G Col4a2 collagen type IV alpha 2 chain ISO CTD Direct Evidence: marker/mechanism
DNA:mutation:cds:c.2399G>A,p.G800E(human)		 CTD
RGD		 PMID:26708157 RGD:13450938 NCBI chrNW_004936472:2,270,836...2,416,324
Ensembl chrNW_004936472:2,270,819...2,416,349 		JBrowse link
primary autosomal dominant microcephaly 18 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC101974150 WD repeat and FYVE domain-containing protein 3 ISO ClinVar Annotator: match by term: Microcephaly 18, primary, autosomal dominant | ClinVar Annotator: match by term: WDFY3-related condition OMIM
ClinVar		 PMID:25741868 PMID:27008544 PMID:28492532 PMID:31327001 NCBI chrNW_004936738:31,426...150,463
Ensembl chrNW_004936738:1,841...147,264 		JBrowse link
primary autosomal recessive microcephaly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Angpt2 angiopoietin 2 ISO ClinVar Annotator: match by term: Autosomal recessive primary microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936615:4,472,261...4,524,537
Ensembl chrNW_004936615:4,472,247...4,524,556 		JBrowse link
G Aspm assembly factor for spindle microtubules ISO ClinVar Annotator: match by term: Autosomal recessive primary microcephaly ClinVar PMID:15355437 PMID:16199547 PMID:18414213 PMID:19028728 PMID:20301772 More... NCBI chrNW_004936567:6,653,382...6,701,856
Ensembl chrNW_004936567:6,653,728...6,701,752 		JBrowse link
G Cenpj centromere protein J ISO ClinVar Annotator: match by term: Autosomal recessive primary microcephaly ClinVar PMID:18414213 PMID:24033266 NCBI chrNW_004936720:2,149,296...2,201,599
Ensembl chrNW_004936720:2,149,302...2,204,139 		JBrowse link
G Cit citron rho-interacting serine/threonine kinase ISO ClinVar Annotator: match by term: Autosomal recessive primary microcephaly ClinVar PMID:25741915 PMID:27453579 PMID:27503289 NCBI chrNW_004936668:991,043...1,146,578
Ensembl chrNW_004936668:991,036...1,146,294 		JBrowse link
G Knl1 kinetochore scaffold 1 ISO DNA:mutation:cds: c.6125 G>A,p. M2041I(human) RGD PMID:22983954 RGD:9685043 NCBI chrNW_004936471:4,079,877...4,110,205
Ensembl chrNW_004936471:4,059,995...4,109,413 		JBrowse link
G Mcph1 microcephalin 1 ISO ClinVar Annotator: match by term: Autosomal recessive primary microcephaly ClinVar PMID:18414213 PMID:25741868 PMID:28492532 PMID:33094427 NCBI chrNW_004936615:4,386,667...4,580,720
Ensembl chrNW_004936615:4,386,635...4,580,747 		JBrowse link
G Wdr62 WD repeat domain 62 ISO ClinVar Annotator: match by term: Autosomal recessive primary microcephaly ClinVar PMID:20729831 PMID:21961505 PMID:23065275 PMID:24228726 PMID:25303973 More... NCBI chrNW_004936922:80,136...119,702
Ensembl chrNW_004936922:80,217...119,653 		JBrowse link
G Znf335 zinc finger protein 335 ISO ClinVar Annotator: match by term: Autosomal recessive primary microcephaly ClinVar PMID:25741868 NCBI chrNW_004936514:7,070,030...7,090,466
Ensembl chrNW_004936514:7,072,554...7,090,183 		JBrowse link
primary autosomal recessive microcephaly 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Angpt2 angiopoietin 2 ISO ClinVar Annotator: match by term: Microcephaly 1, primary, autosomal recessive ClinVar PMID:18414213 PMID:25741868 PMID:26467025 PMID:28492532 PMID:32714618 NCBI chrNW_004936615:4,472,261...4,524,537
Ensembl chrNW_004936615:4,472,247...4,524,556 		JBrowse link
G Aspm assembly factor for spindle microtubules ISO ClinVar Annotator: match by term: Microcephaly 1, primary, autosomal recessive ClinVar PMID:18414213 PMID:19028728 PMID:19332161 PMID:19770472 PMID:20301772 More... NCBI chrNW_004936567:6,653,382...6,701,856
Ensembl chrNW_004936567:6,653,728...6,701,752 		JBrowse link
G Cenpj centromere protein J ISO ClinVar Annotator: match by term: Microcephaly 1, primary, autosomal recessive ClinVar PMID:12843329 PMID:15793586 PMID:20301772 PMID:22775483 PMID:25741868 NCBI chrNW_004936720:2,149,296...2,201,599
Ensembl chrNW_004936720:2,149,302...2,204,139 		JBrowse link
G Mcph1 microcephalin 1 ISO ClinVar Annotator: match by term: Microcephaly 1, primary, autosomal recessive OMIM
ClinVar		 PMID:7693575 PMID:11857108 PMID:12046007 PMID:15199523 PMID:16199547 More... NCBI chrNW_004936615:4,386,667...4,580,720
Ensembl chrNW_004936615:4,386,635...4,580,747 		JBrowse link
G Rnf17 ring finger protein 17 ISO ClinVar Annotator: match by term: Microcephaly 1, primary, autosomal recessive ClinVar PMID:25741868 NCBI chrNW_004936720:2,203,868...2,324,851 JBrowse link
primary autosomal recessive microcephaly 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Znf335 zinc finger protein 335 ISO ClinVar Annotator: match by term: Primary autosomal recessive microcephaly 10 OMIM
ClinVar		 PMID:19131338 PMID:23178126 PMID:25741868 PMID:25741905 PMID:27540107 More... NCBI chrNW_004936514:7,070,030...7,090,466
Ensembl chrNW_004936514:7,072,554...7,090,183 		JBrowse link
primary autosomal recessive microcephaly 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Phc1 polyhomeotic homolog 1 ISO ClinVar Annotator: match by term: Microcephaly 11, primary, autosomal recessive OMIM
ClinVar		 PMID:23418308 PMID:25558065 PMID:25741868 NCBI chrNW_004936870:275,764...300,460
Ensembl chrNW_004936870:277,252...303,125 		JBrowse link
primary autosomal recessive microcephaly 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdk6 cyclin dependent kinase 6 ISO ClinVar Annotator: match by term: Microcephaly 12, primary, autosomal recessive OMIM
ClinVar		 PMID:23918663 NCBI chrNW_004936803:1,025,047...1,229,396
Ensembl chrNW_004936803:1,024,779...1,227,516 		JBrowse link
primary autosomal recessive microcephaly 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cenpe centromere protein E ISO ClinVar Annotator: match by term: CENPE-related condition | ClinVar Annotator: match by term: Microcephaly 13, primary, autosomal recessive OMIM
ClinVar		 PMID:24748105 PMID:25741868 PMID:28492532 NCBI chrNW_004936520:188,601...265,904
Ensembl chrNW_004936520:188,628...265,733 		JBrowse link
primary autosomal recessive microcephaly 14 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sass6 SAS-6 centriolar assembly protein ISO ClinVar Annotator: match by term: Microcephaly 14, primary, autosomal recessive OMIM
ClinVar		 PMID:24951542 PMID:25741868 PMID:28492532 PMID:30639237 NCBI chrNW_004936748:249,216...290,062
Ensembl chrNW_004936748:249,934...289,787 		JBrowse link
primary autosomal recessive microcephaly 15 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mfsd2a MFSD2 lysolipid transporter A, lysophospholipid ISO ClinVar Annotator: match by term: Microcephaly 15, primary, autosomal recessive OMIM
ClinVar		 PMID:25741868 PMID:25741915 PMID:26005865 PMID:26005868 PMID:28492532 More... NCBI chrNW_004936474:21,790,807...21,803,336
Ensembl chrNW_004936474:21,790,747...21,803,360 		JBrowse link
primary autosomal recessive microcephaly 16 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ankle2 ankyrin repeat and LEM domain containing 2 ISO ClinVar Annotator: match by term: Microcephaly 16, primary, autosomal recessive OMIM
ClinVar		 PMID:23806086 PMID:24088041 PMID:25259927 PMID:25741868 PMID:25741905 More... NCBI chrNW_004936660:2,647,071...2,668,060
Ensembl chrNW_004936660:2,648,485...2,666,148 		JBrowse link
primary autosomal recessive microcephaly 17 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cit citron rho-interacting serine/threonine kinase ISO ClinVar Annotator: match by term: Microcephaly 17, primary, autosomal recessive OMIM
ClinVar		 PMID:25741868 PMID:25741915 PMID:27453578 PMID:27453579 PMID:27503289 More... NCBI chrNW_004936668:991,043...1,146,578
Ensembl chrNW_004936668:991,036...1,146,294 		JBrowse link
primary autosomal recessive microcephaly 19 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Copb2 COPI coat complex subunit beta 2 ISO ClinVar Annotator: match by term: COPB2-related condition | ClinVar Annotator: match by term: Microcephaly 19, primary, autosomal recessive OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:29036432 PMID:34450031 NCBI chrNW_004936540:1,467,169...1,493,218
Ensembl chrNW_004936540:1,467,169...1,493,258 		JBrowse link
primary autosomal recessive microcephaly 2 with or without cortical malformations term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wdr62 WD repeat domain 62 ISO ClinVar Annotator: match by term: Microcephaly 2, primary, autosomal recessive, with or without cortical malformations | ClinVar Annotator: match by term: Microcephaly, cortical malformations, and intellectual disability | ClinVar Annotator: match by term: Primary Microcephaly 2 With or Without Cortical Malformations | ClinVar Annotator: match by term: Primary autosomal recessive microcephaly 2 | ClinVar Annotator: match by term: WDR62-related condition OMIM
ClinVar		 PMID:3440221 PMID:9536098 PMID:10573015 PMID:16199547 PMID:17576681 More... NCBI chrNW_004936922:80,136...119,702
Ensembl chrNW_004936922:80,217...119,653 		JBrowse link
Primary Autosomal Recessive Microcephaly 20 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kif14 kinesin family member 14 ISO ClinVar Annotator: match by term: KIF14-related condition | ClinVar Annotator: match by term: Microcephaly 20, primary, autosomal recessive OMIM
ClinVar		 PMID:16199547 PMID:23308235 PMID:25741868 PMID:25741915 PMID:28492532 More... NCBI chrNW_004936567:3,704,672...3,764,111 JBrowse link
Primary Autosomal Recessive Microcephaly 21 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gapdh glyceraldehyde-3-phosphate dehydrogenase ISO ClinVar Annotator: match by term: Microcephaly 21, primary, autosomal recessive ClinVar PMID:25741868 NCBI chrNW_004936709:1,243,149...1,247,782 JBrowse link
G Ncapd2 non-SMC condensin I complex subunit D2 ISO ClinVar Annotator: match by term: Microcephaly 21, primary, autosomal recessive OMIM
ClinVar		 PMID:25741868 NCBI chrNW_004936709:1,250,442...1,275,823
Ensembl chrNW_004936709:1,250,495...1,275,769 		JBrowse link
Primary Autosomal Recessive Microcephaly 22 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ncapd3 non-SMC condensin II complex subunit D3 ISO ClinVar Annotator: match by term: Microcephaly 22, primary, autosomal recessive OMIM
ClinVar		 PMID:25741868 PMID:27737959 NCBI chrNW_004936684:1,618,271...1,687,905
Ensembl chrNW_004936684:1,616,974...1,692,235 		JBrowse link
Primary Autosomal Recessive Microcephaly 23 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ncaph non-SMC condensin I complex subunit H ISO ClinVar Annotator: match by term: Microcephaly 23, primary, autosomal recessive OMIM
ClinVar		 PMID:25741868 PMID:27737959 NCBI chrNW_004936744:440,958...468,964
Ensembl chrNW_004936744:440,956...468,972 		JBrowse link
Primary Autosomal Recessive Microcephaly 24 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nup37 nucleoporin 37 ISO ClinVar Annotator: match by term: Microcephaly 24, primary, autosomal recessive OMIM
ClinVar		 PMID:25741868 PMID:30179222 NCBI chrNW_004936492:11,998,967...12,036,357
Ensembl chrNW_004936492:12,000,988...12,036,210 		JBrowse link
Primary Autosomal Recessive Microcephaly 25 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trappc14 trafficking protein particle complex subunit 14 ISO ClinVar Annotator: match by term: Microcephaly 25, primary, autosomal recessive OMIM
ClinVar		 PMID:25741868 PMID:30715179 NCBI chrNW_004936543:411,972...416,442
Ensembl chrNW_004936543:412,524...416,445 		JBrowse link
Primary Autosomal Recessive Microcephaly 26 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lmnb1 lamin B1 ISO ClinVar Annotator: match by term: LMNB1-related condition | ClinVar Annotator: match by term: Microcephaly 26, primary, autosomal dominant OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:32910914 PMID:33033404 NCBI chrNW_004936504:157,459...211,916
Ensembl chrNW_004936504:157,453...211,967 		JBrowse link
Primary Autosomal Recessive Microcephaly 27 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lmnb2 lamin B2 ISO ClinVar Annotator: match by term: Microcephaly 27, primary, autosomal dominant ClinVar
OMIM		 PMID:25741868 PMID:33033404 NCBI chrNW_004936588:1,448,195...1,465,332
Ensembl chrNW_004936588:1,448,277...1,465,376 		JBrowse link
Primary Autosomal Recessive Microcephaly 28 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rrp7a ribosomal RNA processing 7 homolog A ISO ClinVar Annotator: match by term: Microcephaly 28, primary, autosomal recessive OMIM
ClinVar		 PMID:33199730 NCBI chrNW_004936718:498,841...506,972
Ensembl chrNW_004936718:496,742...507,016 		JBrowse link
Primary Autosomal Recessive Microcephaly 29 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pdcd6ip programmed cell death 6 interacting protein ISO OMIM NCBI chrNW_004936473:24,010,942...24,086,836
Ensembl chrNW_004936473:24,010,935...24,086,846 		JBrowse link
primary autosomal recessive microcephaly 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdk5rap2 CDK5 regulatory subunit associated protein 2 ISO ClinVar Annotator: match by term: CDK5RAP2-related condition | ClinVar Annotator: match by term: Microcephaly 3, primary, autosomal recessive OMIM
ClinVar		 PMID:10677332 PMID:15793586 PMID:16199547 PMID:17764569 PMID:18414213 More... NCBI chrNW_004936487:8,900,375...9,081,547
Ensembl chrNW_004936487:8,900,530...9,081,527 		JBrowse link
primary autosomal recessive microcephaly 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Knl1 kinetochore scaffold 1 ISO ClinVar Annotator: match by term: Microcephaly 4, primary, autosomal recessive OMIM
ClinVar		 PMID:10521316 PMID:18414213 PMID:22983954 PMID:25741868 PMID:26626498 More... NCBI chrNW_004936471:4,079,877...4,110,205
Ensembl chrNW_004936471:4,059,995...4,109,413 		JBrowse link
primary autosomal recessive microcephaly 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aspm assembly factor for spindle microtubules ISO ClinVar Annotator: match by term: ASPM-related condition | ClinVar Annotator: match by term: Microcephaly 5, primary, autosomal recessive OMIM
ClinVar		 PMID:9536098 PMID:11067780 PMID:12355089 PMID:14574646 PMID:15355437 More... NCBI chrNW_004936567:6,653,382...6,701,856
Ensembl chrNW_004936567:6,653,728...6,701,752 		JBrowse link
G Mfsd8 major facilitator superfamily domain containing 8 ISO ClinVar Annotator: match by term: Microcephaly 5, primary, autosomal recessive ClinVar PMID:25741868 NCBI chrNW_004936642:2,745,889...2,833,286
Ensembl chrNW_004936642:2,801,908...2,832,830 		JBrowse link
G Slc26a4 solute carrier family 26 member 4 ISO ClinVar Annotator: match by term: Microcephaly 5, primary, autosomal recessive ClinVar PMID:12676893 PMID:19287372 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chrNW_004936479:16,435,779...16,483,139
Ensembl chrNW_004936479:16,435,739...16,481,332 		JBrowse link
primary autosomal recessive microcephaly 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cenpj centromere protein J ISO ClinVar Annotator: match by term: Microcephaly 6, primary, autosomal recessive OMIM
ClinVar		 PMID:12843329 PMID:15793586 PMID:16199547 PMID:16900296 PMID:18414213 More... NCBI chrNW_004936720:2,149,296...2,201,599
Ensembl chrNW_004936720:2,149,302...2,204,139 		JBrowse link
G Rnf17 ring finger protein 17 ISO ClinVar Annotator: match by term: Microcephaly 6, primary, autosomal recessive ClinVar PMID:15793586 PMID:16199547 PMID:16900296 PMID:18414213 PMID:20301772 More... NCBI chrNW_004936720:2,203,868...2,324,851 JBrowse link
primary autosomal recessive microcephaly 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Stil STIL centriolar assembly protein ISO ClinVar Annotator: match by term: Microcephaly 7, primary, autosomal recessive OMIM
ClinVar		 PMID:18414213 PMID:19215732 PMID:20301772 PMID:22989186 PMID:23772360 More... NCBI chrNW_004936474:28,079,114...28,131,214
Ensembl chrNW_004936474:28,079,492...28,131,198 		JBrowse link
primary autosomal recessive microcephaly 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cep135 centrosomal protein 135 ISO ClinVar Annotator: match by term: CEP135-related condition | ClinVar Annotator: match by term: Microcephaly 8, primary, autosomal recessive OMIM
ClinVar		 PMID:18414213 PMID:22521416 PMID:25741868 PMID:25741909 PMID:26657937 More... NCBI chrNW_004936482:18,230,083...18,299,219
Ensembl chrNW_004936482:18,230,438...18,298,259 		JBrowse link
primary autosomal recessive microcephaly 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cep152 centrosomal protein 152 ISO ClinVar Annotator: match by term: CEP152-related condition | ClinVar Annotator: match by term: Microcephaly 9, primary, autosomal recessive OMIM
ClinVar		 PMID:16199547 PMID:18414213 PMID:20598275 PMID:21131973 PMID:24033266 More... NCBI chrNW_004936471:11,052,994...11,133,385
Ensembl chrNW_004936471:11,052,720...11,117,327 		JBrowse link
primary microcephaly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cit citron rho-interacting serine/threonine kinase susceptibility ISO DNA:splice-site mutation:intron (c.753+3A>T) (human)
DNA:splice-site mutation:intron (c.753+3A>T|c.1111+1G>A) (human)		 RGD PMID:27503289 PMID:27519304 RGD:11553038 RGD:11553519 NCBI chrNW_004936668:991,043...1,146,578
Ensembl chrNW_004936668:991,036...1,146,294 		JBrowse link
G Dnah2 dynein axonemal heavy chain 2 ISO ClinVar Annotator: match by term: Primary microcephaly ClinVar PMID:25741868 NCBI chrNW_004936595:970,004...1,076,582
Ensembl chrNW_004936595:970,004...1,076,582 		JBrowse link
G Foxg1 forkhead box G1 ISO ClinVar Annotator: match by term: Primary microcephaly ClinVar PMID:25741868 NCBI chrNW_004936494:3,738,419...3,740,419
Ensembl chrNW_004936494:3,736,120...3,739,498 		JBrowse link
G Igf2bp3 insulin like growth factor 2 mRNA binding protein 3 ISO ClinVar Annotator: match by term: Primary microcephaly ClinVar PMID:25741868 NCBI chrNW_004936478:456,369...595,705
Ensembl chrNW_004936478:458,871...595,742 		JBrowse link
G Kcnq1 potassium voltage-gated channel subfamily Q member 1 ISO ClinVar Annotator: match by term: Primary microcephaly ClinVar PMID:1984130 PMID:2654361 PMID:15781747 PMID:15840476 PMID:19716085 More... NCBI chrNW_004936794:707,122...994,206
Ensembl chrNW_004936794:707,119...994,778 		JBrowse link
G LOC101971285 7-dehydrocholesterol reductase ISO ClinVar Annotator: match by term: Primary microcephaly ClinVar PMID:9634533 PMID:9653161 PMID:10677299 PMID:10995508 PMID:11078571 More... NCBI chrNW_004936794:1,432,379...1,468,966 JBrowse link
G Rab11a RAB11A, member RAS oncogene family ISO ClinVar Annotator: match by term: Primary microcephaly ClinVar PMID:25741868 NCBI chrNW_004936471:26,089,216...26,111,245
Ensembl chrNW_004936471:26,088,852...26,113,433 		JBrowse link
G Rttn rotatin ISO ClinVar Annotator: match by term: Primary microcephaly ClinVar PMID:25741868 PMID:26608784 NCBI chrNW_004936964:1,369...71,142 JBrowse link
G Smarcal1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1 ISO ClinVar Annotator: match by term: Primary microcephaly ClinVar PMID:11799392 PMID:15880370 PMID:16840568 PMID:17089404 PMID:18805831 More... NCBI chrNW_004936586:828,661...887,988
Ensembl chrNW_004936586:828,650...888,047 		JBrowse link
G Tsr1 TSR1 ribosome maturation factor ISO ClinVar Annotator: match by term: Primary microcephaly ClinVar PMID:25741868 NCBI chrNW_004936538:8,382,786...8,395,747
Ensembl chrNW_004936538:8,383,784...8,395,045 		JBrowse link
Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Als2cl ALS2 C-terminal like ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004936596:506,088...525,576
Ensembl chrNW_004936596:506,077...525,746 		JBrowse link
G Arih2 ariadne RBR E3 ubiquitin protein ligase 2 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004936529:648,661...713,616
Ensembl chrNW_004936529:648,675...713,675 		JBrowse link
G Ccdc12 coiled-coil domain containing 12 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004936596:707,841...756,285
Ensembl chrNW_004936596:703,943...756,362 		JBrowse link
G Ccdc51 coiled-coil domain containing 51 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004936529:228,135...239,343
Ensembl chrNW_004936529:227,969...239,349 		JBrowse link
G Ccr3 C-C motif chemokine receptor 3 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004936596:223,660...224,739
Ensembl chrNW_004936596:223,660...224,739 		JBrowse link
G Ccr9 C-C motif chemokine receptor 9 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004936695:55,788...59,251
Ensembl chrNW_004936695:55,788...59,251 		JBrowse link
G Ccrl2 C-C motif chemokine receptor like 2 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004936596:319,841...320,911 JBrowse link
G Cdc25a cell division cycle 25A ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004936596:1,657,411...1,680,109
Ensembl chrNW_004936596:1,659,159...1,678,788 		JBrowse link
G Celsr3 cadherin EGF LAG seven-pass G-type receptor 3 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004936529:437,476...464,012
Ensembl chrNW_004936529:437,418...464,017 		JBrowse link
G Col7a1 collagen type VII alpha 1 chain ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004936529:348,938...381,701 JBrowse link
G Cripto cripto, EGF-CFC family member ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004936596:451,483...453,892 JBrowse link
G Cspg5 chondroitin sulfate proteoglycan 5 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004936596:1,235,550...1,251,100
Ensembl chrNW_004936596:1,235,545...1,251,166 		JBrowse link
G Cxcr6 C-X-C motif chemokine receptor 6 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004936596:31,641...44,561
Ensembl chrNW_004936596:37,067...38,092 		JBrowse link
G Dalrd3 DALR anticodon binding domain containing 3 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004936529:740,861...744,461
Ensembl chrNW_004936529:740,975...745,427 		JBrowse link
G Dhx30 DExH-box helicase 30 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004936596:1,419,165...1,454,797
Ensembl chrNW_004936596:1,421,094...1,455,356 		JBrowse link
G Elp6 elongator acetyltransferase complex subunit 6 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004936596:1,187,402...1,205,277
Ensembl chrNW_004936596:1,184,314...1,205,377 		JBrowse link
G Fbxw12 F-box and WD repeat domain containing 12 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004936529:156,881...175,568 JBrowse link
G Fyco1 FYVE and coiled-coil domain autophagy adaptor 1 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004936596:3,938...81,226
Ensembl chrNW_004936596:3,720...81,257 		JBrowse link
G Impdh2 inosine monophosphate dehydrogenase 2 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004936529:748,777...753,582
Ensembl chrNW_004936529:745,511...753,581 		JBrowse link
G Ip6k2 inositol hexakisphosphate kinase 2 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004936529:487,277...515,614
Ensembl chrNW_004936529:486,879...515,674 		JBrowse link
G Kif9 kinesin family member 9 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004936596:952,028...1,010,889 JBrowse link
G Klhl18 kelch like family member 18 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004936596:1,010,963...1,063,539
Ensembl chrNW_004936596:1,010,880...1,063,518 		JBrowse link
G Lars2 leucyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004936695:353,965...492,014
Ensembl chrNW_004936695:350,975...492,011 		JBrowse link
G Limd1 LIM domain containing 1 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004936695:260,586...314,521
Ensembl chrNW_004936695:259,209...314,535 		JBrowse link
G LOC101956274 cytochrome b-c1 complex subunit 1, mitochondrial ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004936529:385,942...396,196
Ensembl chrNW_004936529:385,851...396,230 		JBrowse link
G LOC101964209 C-C chemokine receptor type 1 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004936596:177,774...183,186
Ensembl chrNW_004936596:177,812...183,186 		JBrowse link
G LOC110599066 translation machinery-associated protein 7 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004936624:659,521...659,879 JBrowse link
G Lrrc2 leucine rich repeat containing 2 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004936596:420,678...440,937
Ensembl chrNW_004936596:420,567...441,090 		JBrowse link
G Ltf lactotransferrin ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004936596:344,287...373,788
Ensembl chrNW_004936596:344,274...373,952 		JBrowse link
G Lztfl1 leucine zipper transcription factor like 1 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004936695:106,216...118,408
Ensembl chrNW_004936695:106,175...121,606 		JBrowse link
G Map4 microtubule associated protein 4 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004936596:1,455,705...1,546,007 JBrowse link
G Myl3 myosin light chain 3 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004936596:649,887...655,110
Ensembl chrNW_004936596:649,875...655,110 		JBrowse link
G Nbeal2 neurobeachin like 2 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004936596:758,495...789,252
Ensembl chrNW_004936596:758,495...789,168 		JBrowse link
G Nckipsd NCK interacting protein with SH3 domain ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004936529:474,978...485,333
Ensembl chrNW_004936529:471,913...485,389 		JBrowse link
G Ndufaf3 NADH:ubiquinone oxidoreductase complex assembly factor 3 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004936529:746,620...748,145
Ensembl chrNW_004936529:747,021...748,695 		JBrowse link
G Nme6 NME/NM23 nucleoside diphosphate kinase 6 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004936529:88,929...96,207
Ensembl chrNW_004936529:88,949...96,236 		JBrowse link
G P4htm prolyl 4-hydroxylase, transmembrane ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004936529:716,407...732,010
Ensembl chrNW_004936529:716,433...731,795 		JBrowse link
G Pfkfb4 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004936529:304,090...346,281
Ensembl chrNW_004936529:303,843...342,935 		JBrowse link
G Plxnb1 plexin B1 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004936529:197,834...226,064
Ensembl chrNW_004936529:200,210...221,227 		JBrowse link
G Prkar2a protein kinase cAMP-dependent type II regulatory subunit alpha ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004936529:528,138...601,078
Ensembl chrNW_004936529:528,114...601,122 		JBrowse link
G Prss50 serine protease 50 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004936596:541,918...544,866
Ensembl chrNW_004936596:541,918...546,364 		JBrowse link
G Pth1r parathyroid hormone 1 receptor ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004936596:674,088...693,191
Ensembl chrNW_004936596:674,088...693,213 		JBrowse link
G Ptpn23 protein tyrosine phosphatase non-receptor type 23 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004936596:1,094,285...1,124,483
Ensembl chrNW_004936596:1,094,205...1,124,712 		JBrowse link
G Qars1 glutaminyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:24656866 PMID:25432320 More... NCBI chrNW_004936529:802,753...810,270
Ensembl chrNW_004936529:802,759...810,265 		JBrowse link
G Qrich1 glutamine rich 1 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004936529:753,842...802,405
Ensembl chrNW_004936529:753,844...801,861 		JBrowse link
G Rtp3 receptor transporter protein 3 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004936596:392,885...408,892 JBrowse link
G Sacm1l SAC1 like phosphatidylinositide phosphatase ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004936695:196,238...253,128 JBrowse link
G Scap SREBF chaperone ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004936596:1,124,573...1,180,219
Ensembl chrNW_004936596:1,122,042...1,180,297 		JBrowse link
G Setd2 SET domain containing 2, histone lysine methyltransferase ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004936596:795,940...898,823
Ensembl chrNW_004936596:796,601...883,373 		JBrowse link
G Shisa5 shisa family member 5 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004936529:266,671...292,103
Ensembl chrNW_004936529:266,456...269,732 		JBrowse link
G Slc25a20 solute carrier family 25 member 20 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004936529:607,035...631,872
Ensembl chrNW_004936529:606,804...631,991 		JBrowse link
G Slc26a6 solute carrier family 26 member 6 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004936529:425,839...435,590
Ensembl chrNW_004936529:424,720...435,293 		JBrowse link
G Slc6a20 solute carrier family 6 member 20 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004936695:146,571...193,428
Ensembl chrNW_004936695:146,421...195,121 		JBrowse link
G Smarcc1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 1 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004936596:1,257,723...1,407,358
Ensembl chrNW_004936596:1,255,054...1,408,038 		JBrowse link
G Tmem89 transmembrane protein 89 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004936529:422,145...424,320
Ensembl chrNW_004936529:423,025...423,958 		JBrowse link
G Tmie transmembrane inner ear ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004936596:531,260...540,608
Ensembl chrNW_004936596:531,254...541,693 		JBrowse link
G Trex1 three prime repair exonuclease 1 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004936529:264,535...266,451
Ensembl chrNW_004936529:264,468...266,422 		JBrowse link
G Ucn2 urocortin 2 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004936529:347,411...348,040 JBrowse link
G Wdr6 WD repeat domain 6 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004936529:731,958...741,334
Ensembl chrNW_004936529:730,716...745,427 		JBrowse link
G Xcr1 X-C motif chemokine receptor 1 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004936596:93,433...94,480
Ensembl chrNW_004936596:93,433...94,434 		JBrowse link
PSAT deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Psat1 phosphoserine aminotransferase 1 ISO ClinVar Annotator: match by term: PSAT deficiency | ClinVar Annotator: match by term: Phosphoserine aminotransferase deficiency OMIM
ClinVar		 PMID:9536098 PMID:17436247 PMID:17576681 PMID:25152457 PMID:25741868 More... NCBI chrNW_004936632:4,392,165...4,422,670
Ensembl chrNW_004936632:4,391,459...4,423,264 		JBrowse link
pseudo-TORCH syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ocln occludin ISO ClinVar Annotator: match by term: Pseudo-TORCH syndrome 1 OMIM
ClinVar		 PMID:18414213 PMID:19012351 PMID:20727516 PMID:25741868 PMID:28492532 NCBI chrNW_004936480:99,516...152,834
Ensembl chrNW_004936480:98,371...152,413 		JBrowse link
Raine Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fam20c FAM20C golgi associated secretory pathway kinase ISO ClinVar Annotator: match by term: FAM20C-related condition | ClinVar Annotator: match by term: Lethal osteosclerotic bone dysplasia OMIM
ClinVar		 PMID:2020859 PMID:12868469 PMID:14564151 PMID:17924334 PMID:19250384 More... NCBI chrNW_004936754:596,878...649,585
Ensembl chrNW_004936754:596,872...653,098 		JBrowse link
Rajab Interstitial Lung Disease with Brain Calcifications 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Farsb phenylalanyl-tRNA synthetase subunit beta ISO ClinVar Annotator: match by term: FARSB-related condition | ClinVar Annotator: match by term: Rajab interstitial lung disease with brain calcifications 1 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:29979980 NCBI chrNW_004936569:4,524,525...4,604,539
Ensembl chrNW_004936569:4,523,046...4,604,560 		JBrowse link
Sebaceous Nevus Syndrome and Hemimegalencephaly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hras HRas proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Sebaceous nevus syndrome and hemimegalencephaly ClinVar PMID:12835555 PMID:16170316 PMID:16329078 PMID:16372351 PMID:16443854 More... NCBI chrNW_004936888:375,372...378,125
Ensembl chrNW_004936888:375,377...377,958 		JBrowse link
G Kras KRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Sebaceous nevus syndrome and hemimegalencephaly ClinVar PMID:2278970 PMID:3122217 PMID:7773929 PMID:8439212 PMID:12110640 More... NCBI chrNW_004936548:2,078,568...2,113,877
Ensembl chrNW_004936548:2,079,036...2,110,523 		JBrowse link
G Lrrc56 leucine rich repeat containing 56 ISO ClinVar Annotator: match by term: Sebaceous nevus syndrome and hemimegalencephaly ClinVar PMID:12835555 PMID:16170316 PMID:16329078 PMID:16372351 PMID:16443854 More... NCBI chrNW_004936888:379,622...397,647
Ensembl chrNW_004936888:382,062...402,083 		JBrowse link
G Nras NRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Sebaceous nevus syndrome and hemimegalencephaly ClinVar PMID:1654209 PMID:2278970 PMID:2674680 PMID:3122217 PMID:6587382 More... NCBI chrNW_004936627:73,413...82,590
Ensembl chrNW_004936627:73,413...82,590 		JBrowse link
Seckel syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atr ATR serine/threonine kinase susceptibility ISO ClinVar Annotator: match by term: ATR-related condition | ClinVar Annotator: match by term: Seckel syndrome 1
DNA:point mutation:2101A>G (human)		 OMIM
ClinVar
RGD		 PMID:9536098 PMID:10691732 PMID:11721054 PMID:12640452 PMID:15987455 More... RGD:1599404 NCBI chrNW_004936540:4,074,543...4,178,859
Ensembl chrNW_004936540:4,074,570...4,178,898 		JBrowse link
G Cenpj centromere protein J ISO ClinVar Annotator: match by term: Seckel syndrome 1 ClinVar PMID:18414213 PMID:20301772 PMID:20978018 PMID:25741868 PMID:28492532 NCBI chrNW_004936720:2,149,296...2,201,599
Ensembl chrNW_004936720:2,149,302...2,204,139 		JBrowse link
G Cep152 centrosomal protein 152 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21131973 NCBI chrNW_004936471:11,052,994...11,133,385
Ensembl chrNW_004936471:11,052,720...11,117,327 		JBrowse link
G Pcnt pericentrin ISO CTD Direct Evidence: marker/mechanism CTD PMID:18157127 NCBI chrNW_004936778:149,844...248,905
Ensembl chrNW_004936778:149,177...247,357 		JBrowse link
Seckel syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pcnt pericentrin ISO CTD Direct Evidence: marker/mechanism CTD PMID:18174396 NCBI chrNW_004936778:149,844...248,905
Ensembl chrNW_004936778:149,177...247,357 		JBrowse link
G Rbbp8 RB binding protein 8, endonuclease ISO ClinVar Annotator: match by term: RBBP8-Related Disorders | ClinVar Annotator: match by term: Seckel syndrome 2 OMIM
ClinVar		 PMID:11781686 PMID:16199547 PMID:18414213 PMID:24389050 PMID:25741868 More... NCBI chrNW_004936550:2,482,915...2,554,077 JBrowse link
Seckel syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cenpj centromere protein J ISO ClinVar Annotator: match by term: Seckel syndrome 4 OMIM
ClinVar		 PMID:15793586 PMID:16900296 PMID:18414213 PMID:20301772 PMID:20522431 More... NCBI chrNW_004936720:2,149,296...2,201,599
Ensembl chrNW_004936720:2,149,302...2,204,139 		JBrowse link
G Rnf17 ring finger protein 17 ISO ClinVar Annotator: match by term: Seckel syndrome 4 ClinVar PMID:18414213 PMID:20301772 PMID:20522431 PMID:24402816 PMID:25741868 More... NCBI chrNW_004936720:2,203,868...2,324,851 JBrowse link
Seizures, Cortical Blindness, and Microcephaly Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Diaph1 diaphanous related formin 1 ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome OMIM
ClinVar		 PMID:9360932 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22938506 More... NCBI chrNW_004936504:12,548,452...12,645,236
Ensembl chrNW_004936504:12,548,452...12,643,399 		JBrowse link
SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ext2 exostosin glycosyltransferase 2 ISO ClinVar Annotator: match by term: Seizures, scoliosis, and macrocephaly syndrome OMIM
ClinVar		 PMID:9326317 PMID:10679937 PMID:10713884 PMID:10750558 PMID:11432960 More... NCBI chrNW_004936562:4,345,146...4,489,180
Ensembl chrNW_004936562:4,342,874...4,489,180 		JBrowse link
Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nhej1 non-homologous end joining factor 1 ISO ClinVar Annotator: match by term: NHEJ1 SYNDROME | ClinVar Annotator: match by term: Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation | ClinVar Annotator: match by term: Severe combined immunodeficiency with sensitivity to ionizing radiation due to NHEJ1 deficiency OMIM
ClinVar		 PMID:9536098 PMID:12604777 PMID:16199547 PMID:16439204 PMID:16439205 More... NCBI chrNW_004936569:1,494,783...1,578,587
Ensembl chrNW_004936569:1,495,446...1,578,590 		JBrowse link
Short Stature and Microcephaly with Genital Anomalies term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cenpt centromere protein T ISO ClinVar Annotator: match by term: Short stature and microcephaly with genital anomalies OMIM
ClinVar		 PMID:25741868 PMID:29228025 NCBI chrNW_004936475:18,198,725...18,204,257
Ensembl chrNW_004936475:18,198,733...18,203,963 		JBrowse link
SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cript CXXC repeat containing interactor of PDZ3 domain ISO ClinVar Annotator: match by term: Short stature with microcephaly and distinctive facies OMIM
ClinVar		 PMID:24389050 PMID:25558065 PMID:25741868 PMID:27250922 PMID:31101064 NCBI chrNW_004936508:5,650,057...5,658,966
Ensembl chrNW_004936508:5,650,057...5,658,950 		JBrowse link
G Pigf phosphatidylinositol glycan anchor biosynthesis class F ISO ClinVar Annotator: match by term: Short stature with microcephaly and distinctive facies ClinVar PMID:27250922 NCBI chrNW_004936508:5,659,059...5,695,441 JBrowse link
SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Znf407 zinc finger protein 407 ISO ClinVar Annotator: match by term: Short stature, impaired intellectual development, microcephaly, hypotonia, and ocular anomalies | ClinVar Annotator: match by term: ZNF407-related condition OMIM
ClinVar		 PMID:24907849 PMID:25741868 PMID:28492532 PMID:32737394 NCBI chrNW_004936616:3,525,483...3,947,163
Ensembl chrNW_004936616:3,525,246...3,921,359 		JBrowse link
SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Xrcc2 X-ray repair cross complementing 2 ISO ClinVar Annotator: match by term: Short stature, microcephaly, and endocrine dysfunction ClinVar PMID:11118202 PMID:22232082 PMID:25741916 PMID:26046366 PMID:26845104 More... NCBI chrNW_004936527:7,760,609...7,785,360
Ensembl chrNW_004936527:7,760,719...7,785,391 		JBrowse link
G Xrcc4 X-ray repair cross complementing 4 ISO ClinVar Annotator: match by term: Short stature, microcephaly, and endocrine dysfunction | ClinVar Annotator: match by term: XRCC4-related condition OMIM
ClinVar		 PMID:16199547 PMID:18695064 PMID:24033266 PMID:24389050 PMID:25558065 More... NCBI chrNW_004936469:2,248,367...2,495,215
Ensembl chrNW_004936469:2,248,039...2,495,226 		JBrowse link
SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Csgalnact1 chondroitin sulfate N-acetylgalactosaminyltransferase 1 ISO ClinVar Annotator: match by term: Skeletal dysplasia, mild, with joint laxity and advanced bone age OMIM
ClinVar		 PMID:25741868 PMID:27599773 PMID:28492532 PMID:31325655 PMID:31705726 NCBI chrNW_004936555:3,639,459...3,807,483
Ensembl chrNW_004936555:3,637,630...3,807,488 		JBrowse link
Snijders Blok-Campeau Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chd3 chromodomain helicase DNA binding protein 3 ISO ClinVar Annotator: match by term: Snijders Blok-Campeau syndrome OMIM
ClinVar		 PMID:22495309 PMID:25363768 PMID:25741868 PMID:28135719 PMID:28191890 More... NCBI chrNW_004936595:1,131,198...1,154,615
Ensembl chrNW_004936595:1,130,078...1,157,822 		JBrowse link
G Naa38 N-alpha-acetyltransferase 38, NatC auxiliary subunit ISO ClinVar Annotator: match by term: Snijders Blok-Campeau syndrome ClinVar PMID:25741868 NCBI chrNW_004936595:1,100,774...1,101,909
Ensembl chrNW_004936595:1,098,424...1,102,508 		JBrowse link
spastic tetraplegia, thin corpus callosum, and progressive microcephaly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc1a4 solute carrier family 1 member 4 ISO ClinVar Annotator: match by term: Spastic tetraplegia, thin corpus callosum, and progressive microcephaly OMIM
ClinVar		 PMID:2837306 PMID:25741868 PMID:25930971 PMID:26041762 PMID:26138499 More... NCBI chrNW_004936491:9,761,002...9,790,535
Ensembl chrNW_004936491:9,760,952...9,790,536 		JBrowse link
spondyloepimetaphyseal dysplasia, Genevieve-type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nans N-acetylneuraminate synthase ISO ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia, Genevieve type OMIM
ClinVar		 PMID:15726110 PMID:25741868 PMID:27213289 PMID:28492532 PMID:34163424 NCBI chrNW_004936524:6,772,831...6,791,854
Ensembl chrNW_004936524:6,772,796...6,791,902 		JBrowse link
G Trim14 tripartite motif containing 14 ISO ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia, Genevieve type ClinVar PMID:15726110 PMID:25741868 PMID:27213289 PMID:28492532 PMID:34163424 NCBI chrNW_004936524:6,797,788...6,816,582
Ensembl chrNW_004936524:6,797,762...6,816,607 		JBrowse link
Stromme syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cenpf centromere protein F ISO ClinVar Annotator: match by term: Stromme syndrome OMIM
ClinVar		 PMID:8261651 PMID:25564561 PMID:25741868 PMID:25741878 PMID:26820108 More... NCBI chrNW_004936628:3,642,281...3,695,262
Ensembl chrNW_004936628:3,643,000...3,695,221 		JBrowse link
syndromic microphthalmia 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hmgb3 high mobility group box 3 ISO OMIM NCBI chrNW_004936714:1,523,016...1,527,301 JBrowse link
syndromic X-linked intellectual disability Najm type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp6ap2 ATPase H+ transporting accessory protein 2 ISO ClinVar Annotator: match by term: Intellectual disability, CASK-related, X-linked ClinVar PMID:23901204 PMID:28492532 NCBI chrNW_004936502:7,206,226...7,232,798
Ensembl chrNW_004936502:7,206,172...7,233,912 		JBrowse link
G Bcor BCL6 corepressor ISO ClinVar Annotator: match by term: Intellectual disability, CASK-related, X-linked ClinVar PMID:23901204 PMID:28492532 NCBI chrNW_004936502:6,764,043...6,812,194
Ensembl chrNW_004936502:6,764,907...6,792,916 		JBrowse link
G Cask calcium/calmodulin dependent serine protein kinase ISO ClinVar Annotator: match by term: Intellectual disability, CASK-related, X-linked | ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Najm type OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:19165920 More... NCBI chrNW_004936502:7,933,312...8,281,492
Ensembl chrNW_004936502:7,937,146...8,281,492 		JBrowse link
G CXHXorf38 chromosome X CXorf38 homolog ISO ClinVar Annotator: match by term: Intellectual disability, CASK-related, X-linked ClinVar PMID:23901204 PMID:28492532 NCBI chrNW_004936502:7,260,094...7,278,416
Ensembl chrNW_004936502:7,259,928...7,278,725 		JBrowse link
G Ddx3x DEAD-box helicase 3 X-linked ISO ClinVar Annotator: match by term: Intellectual disability, CASK-related, X-linked ClinVar PMID:23901204 PMID:28492532 NCBI chrNW_004936502:7,770,896...7,820,555
Ensembl chrNW_004936502:7,804,824...7,820,569 		JBrowse link
G Gpr34 G protein-coupled receptor 34 ISO ClinVar Annotator: match by term: Intellectual disability, CASK-related, X-linked ClinVar PMID:19165920 PMID:20029458 PMID:21735175 PMID:21954287 PMID:22452838 More... NCBI chrNW_004936502:8,070,824...8,078,273
Ensembl chrNW_004936502:8,076,590...8,077,714 		JBrowse link
G Gpr82 G protein-coupled receptor 82 ISO ClinVar Annotator: match by term: Intellectual disability, CASK-related, X-linked ClinVar PMID:19165920 PMID:20029458 PMID:21735175 PMID:21954287 PMID:22452838 More... NCBI chrNW_004936502:8,100,698...8,102,349
Ensembl chrNW_004936502:8,098,580...8,102,349 		JBrowse link
G Ldlr low density lipoprotein receptor ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Najm type ClinVar PMID:1301956 PMID:9654205 PMID:9974426 PMID:11139254 PMID:11317361 More... NCBI chrNW_004936659:1,259,405...1,300,545
Ensembl chrNW_004936659:1,259,369...1,302,294 		JBrowse link
G Med14 mediator complex subunit 14 ISO ClinVar Annotator: match by term: Intellectual disability, CASK-related, X-linked ClinVar PMID:23901204 PMID:28492532 NCBI chrNW_004936502:7,280,606...7,350,750
Ensembl chrNW_004936502:7,280,534...7,350,435 		JBrowse link
G Mpc1l mitochondrial pyruvate carrier 1 like ISO ClinVar Annotator: match by term: Intellectual disability, CASK-related, X-linked ClinVar PMID:23901204 PMID:28492532 NCBI chrNW_004936502:7,256,149...7,256,553
Ensembl chrNW_004936502:7,256,149...7,256,553 		JBrowse link
G Nyx nyctalopin ISO ClinVar Annotator: match by term: Intellectual disability, CASK-related, X-linked ClinVar PMID:23901204 PMID:28492532 NCBI chrNW_004936502:7,890,582...7,909,157
Ensembl chrNW_004936502:7,890,535...7,910,986 		JBrowse link
G Usp9x ubiquitin specific peptidase 9 X-linked ISO ClinVar Annotator: match by term: Intellectual disability, CASK-related, X-linked ClinVar PMID:23901204 PMID:28492532 NCBI chrNW_004936502:7,649,808...7,732,731
Ensembl chrNW_004936502:7,649,842...7,735,382 		JBrowse link
syndromic X-linked intellectual disability Turner type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aff2 ALF transcription elongation factor 2 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, TURNER TYPE ClinVar PMID:25741868 NCBI chrNW_004936513:414,839...893,670
Ensembl chrNW_004936513:414,574...893,676 		JBrowse link
G Camta1 calmodulin binding transcription activator 1 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, TURNER TYPE ClinVar PMID:25741868 NCBI chrNW_004936623:1,759,052...2,265,466
Ensembl chrNW_004936623:1,526,171...2,266,124 		JBrowse link
G Huwe1 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 ISO ClinVar Annotator: match by term: HUWE1-related condition | ClinVar Annotator: match by term: HUWE1-related neurodevelopmental disorder | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, TURNER TYPE | ClinVar Annotator: match by term: Intellectual disability, X-linked syndromic, Turner type OMIM
ClinVar		 PMID:6107045 PMID:7943042 PMID:7943044 PMID:9536098 PMID:16700052 More... NCBI chrNW_004936751:478,978...622,818
Ensembl chrNW_004936751:478,300...622,820 		JBrowse link
G Ski SKI proto-oncogene ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, TURNER TYPE ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936737:1,223,653...1,274,664
Ensembl chrNW_004936737:1,222,341...1,276,631 		JBrowse link
Tenorio Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rnf125 ring finger protein 125 ISO ClinVar Annotator: match by term: RNF125-related condition | ClinVar Annotator: match by term: Tenorio syndrome OMIM
ClinVar		 PMID:25196541 PMID:25741868 PMID:28492532 PMID:34196401 NCBI chrNW_004936682:1,228,903...1,268,651
Ensembl chrNW_004936682:1,231,823...1,268,657 		JBrowse link
Tessadori-van Haaften Neurodevelopmental Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC101957180 histone H4 ISO ClinVar Annotator: match by term: Tessadori-van Haaften neurodevelopmental syndrome 1 ClinVar PMID:28920961 NCBI chrNW_004936671:3,139,838...3,140,223 JBrowse link
G LOC101972801 histone H4 ISO ClinVar Annotator: match by term: Tessadori-van Haaften neurodevelopmental syndrome 1 OMIM
ClinVar		 PMID:15808514 PMID:19818714 PMID:25741868 PMID:28920961 NCBI chrNW_004936671:1,953,045...1,953,612 JBrowse link
THAUVIN-ROBINET-FAIVRE SYNDROME term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fibp FGF1 intracellular binding protein ISO ClinVar Annotator: match by term: Thauvin-Robinet-Faivre syndrome OMIM
ClinVar		 PMID:25741868 PMID:26660953 PMID:27183861 NCBI chrNW_004936599:3,652,889...3,657,171
Ensembl chrNW_004936599:3,652,839...3,660,645 		JBrowse link
Tsukahara Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Znf407 zinc finger protein 407 ISO ClinVar Annotator: match by term: Radioulnar synostosis with microcephaly, short stature, scoliosis, and mental retardation ClinVar PMID:25741868 NCBI chrNW_004936616:3,525,483...3,947,163
Ensembl chrNW_004936616:3,525,246...3,921,359 		JBrowse link
tuberous sclerosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bmp4 bone morphogenetic protein 4 ISO protein:decreased expression, altered localization:cerebral cortex: RGD PMID:22752548 RGD:9068443 NCBI chrNW_004936697:1,054,237...1,061,468
Ensembl chrNW_004936697:1,056,636...1,061,468 		JBrowse link
G Eif4ebp1 eukaryotic translation initiation factor 4E binding protein 1 treatment ISO RGD PMID:12384518 RGD:1549429 NCBI chrNW_004936710:1,446,030...1,461,945 JBrowse link
G Flna filamin A ISO protein:increased expression:prefrontal cortex (human) RGD PMID:25277454 RGD:11565117 NCBI chrNW_004936809:1,097,288...1,123,206
Ensembl chrNW_004936809:1,097,294...1,123,201 		JBrowse link
G Ifng interferon gamma ISO CTD Direct Evidence: therapeutic CTD PMID:16845661 NCBI chrNW_004936545:6,139,130...6,144,543
Ensembl chrNW_004936545:6,139,116...6,148,452 		JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO protein:increased expression:cerebral cortex RGD PMID:22459050 RGD:8547829 NCBI chrNW_004936514:7,038,240...7,045,873
Ensembl chrNW_004936514:7,037,639...7,045,793 		JBrowse link
G Pkd1 polycystin 1, transient receptor potential channel interacting ISO ClinVar Annotator: match by term: Tuberous sclerosis syndrome ClinVar NCBI chrNW_004936694:1,923,383...1,958,160
Ensembl chrNW_004936694:1,930,621...1,957,179 		JBrowse link
G Tsc1 TSC complex subunit 1 susceptibility ISO DNA:nonsense mutations, deletion: :multiple
ClinVar Annotator: match by term: Cortical tubers | ClinVar Annotator: match by term: Tuberous sclerosis | ClinVar Annotator: match by term: Tuberous sclerosis syndrome		 RGD
ClinVar		 PMID:9242607 PMID:9328481 PMID:9536098 PMID:9803264 PMID:9863590 More... RGD:1624196 NCBI chrNW_004936487:19,331,183...19,386,841
Ensembl chrNW_004936487:19,331,194...19,386,892 		JBrowse link
G Tsc2 TSC complex subunit 2 ISO ClinVar Annotator: match by term: Cortical tubers | ClinVar Annotator: match by term: Tuberous sclerosis | ClinVar Annotator: match by term: Tuberous sclerosis syndrome ClinVar PMID:1112665 PMID:1520333 PMID:1870099 PMID:2039137 PMID:2903760 More... NCBI chrNW_004936694:1,958,152...1,993,373
Ensembl chrNW_004936694:1,958,154...1,993,363 		JBrowse link
tuberous sclerosis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca2 ATP binding cassette subfamily A member 2 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chrNW_004936669:922,978...941,996
Ensembl chrNW_004936669:926,622...942,167 		JBrowse link
G Abo ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chrNW_004936570:1,315,192...1,322,719 JBrowse link
G Adamts13 ADAM metallopeptidase with thrombospondin type 1 motif 13 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chrNW_004936669:3,449,259...3,478,471
Ensembl chrNW_004936669:3,456,494...3,478,512 		JBrowse link
G Adamtsl2 ADAMTS like 2 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chrNW_004936669:3,363,991...3,397,099
Ensembl chrNW_004936669:3,363,867...3,397,402 		JBrowse link
G Agpat2 1-acylglycerol-3-phosphate O-acyltransferase 2 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chrNW_004936669:1,185,204...1,198,972
Ensembl chrNW_004936669:1,195,365...1,202,042 		JBrowse link
G Ajm1 apical junction component 1 homolog ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chrNW_004936669:1,065,901...1,075,493
Ensembl chrNW_004936669:1,069,266...1,072,187 		JBrowse link
G Ak8 adenylate kinase 8 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936487:19,212,155...19,321,601
Ensembl chrNW_004936487:19,209,958...19,319,932 		JBrowse link
G Barhl1 BarH like homeobox 1 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chrNW_004936487:19,112,479...19,119,677
Ensembl chrNW_004936487:19,111,726...19,119,677 		JBrowse link
G Brd3 bromodomain containing 3 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chrNW_004936669:2,993,284...3,023,185
Ensembl chrNW_004936669:2,993,187...3,021,200 		JBrowse link
G C8g complement C8 gamma chain ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chrNW_004936669:985,318...988,600
Ensembl chrNW_004936669:985,295...988,726
Ensembl chrNW_004936669:985,295...988,726 		JBrowse link
G Cacfd1 calcium channel flower domain containing 1 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chrNW_004936669:3,439,174...3,448,637
Ensembl chrNW_004936669:3,441,018...3,448,669 		JBrowse link
G Camsap1 calmodulin regulated spectrin associated protein 1 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chrNW_004936669:1,785,229...1,831,876
Ensembl chrNW_004936669:1,770,870...1,831,930 		JBrowse link
G Card9 caspase recruitment domain family member 9 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chrNW_004936669:1,428,208...1,438,012
Ensembl chrNW_004936669:1,429,594...1,438,005 		JBrowse link
G Cel carboxyl ester lipase ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chrNW_004936487:19,463,219...19,472,029
Ensembl chrNW_004936487:19,463,182...19,469,900 		JBrowse link
G Cfap77 cilia and flagella associated protein 77 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chrNW_004936487:18,986,966...19,103,044
Ensembl chrNW_004936487:18,986,966...19,103,044 		JBrowse link
G Clic3 chloride intracellular channel 3 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chrNW_004936669:947,743...950,539
Ensembl chrNW_004936669:948,667...950,539 		JBrowse link
G Col5a1 collagen type V alpha 1 chain ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chrNW_004936669:2,474,381...2,613,541
Ensembl chrNW_004936669:2,476,818...2,580,891 		JBrowse link
G Dbh dopamine beta-hydroxylase ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chrNW_004936669:3,302,014...3,326,233
Ensembl chrNW_004936669:3,301,802...3,320,643 		JBrowse link
G Ddx31 DEAD-box helicase 31 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chrNW_004936487:19,123,422...19,179,285
Ensembl chrNW_004936487:19,123,577...19,179,117 		JBrowse link
G Dipk1b divergent protein kinase domain 1B ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chrNW_004936669:1,159,711...1,165,667
Ensembl chrNW_004936669:1,158,819...1,164,194 		JBrowse link
G Dnlz DNL-type zinc finger ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chrNW_004936669:1,438,129...1,439,909
Ensembl chrNW_004936669:1,438,227...1,439,814 		JBrowse link
G Dpp7 dipeptidyl peptidase 7 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chrNW_004936669:868,889...872,982
Ensembl chrNW_004936669:869,067...872,885 		JBrowse link
G Edf1 endothelial differentiation related factor 1 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chrNW_004936669:1,051,137...1,055,168
Ensembl chrNW_004936669:1,051,137...1,055,168 		JBrowse link
G Egfl7 EGF like domain multiple 7 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chrNW_004936669:1,199,416...1,211,367 JBrowse link
G Entpd2 ectonucleoside triphosphate diphosphohydrolase 2 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chrNW_004936669:901,192...906,765
Ensembl chrNW_004936669:901,104...906,782 		JBrowse link
G Entr1 endosome associated trafficking regulator 1 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chrNW_004936669:1,396,733...1,403,927 JBrowse link
G Fam163b family with sequence similarity 163 member B ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chrNW_004936669:3,337,490...3,363,077
Ensembl chrNW_004936669:3,360,236...3,361,686 		JBrowse link
G Fbxw5 F-box and WD repeat domain containing 5 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chrNW_004936669:988,615...993,053
Ensembl chrNW_004936669:988,963...993,843 		JBrowse link
G Fut7 fucosyltransferase 7 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chrNW_004936669:914,520...920,481
Ensembl chrNW_004936669:919,206...920,341 		JBrowse link
G Gbgt1 globoside alpha-1,3-N-acetylgalactosaminyltransferase 1 (FORS blood group) ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chrNW_004936487:19,520,232...19,529,199
Ensembl chrNW_004936487:19,519,092...19,529,102 		JBrowse link
G Gfi1b growth factor independent 1B transcriptional repressor ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936487:19,414,135...19,417,465
Ensembl chrNW_004936487:19,414,135...19,417,465 		JBrowse link
G Glt6d1 glycosyltransferase 6 domain containing 1 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chrNW_004936669:1,945,250...1,952,652
Ensembl chrNW_004936669:1,945,250...1,952,652 		JBrowse link
G Gpsm1 G protein signaling modulator 1 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chrNW_004936669:1,442,550...1,469,563
Ensembl chrNW_004936669:1,440,902...1,463,944 		JBrowse link
G Grin1 glutamate ionotropic receptor NMDA type subunit 1 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chrNW_004936669:814,330...838,881
Ensembl chrNW_004936669:814,330...839,208 		JBrowse link
G Gtf3c4 general transcription factor IIIC subunit 4 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936487:19,183,596...19,202,407 JBrowse link
G Gtf3c5 general transcription factor IIIC subunit 5 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chrNW_004936487:19,438,537...19,455,712
Ensembl chrNW_004936487:19,440,222...19,458,552 		JBrowse link
G Inpp5e inositol polyphosphate-5-phosphatase E ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chrNW_004936669:1,377,005...1,385,287 JBrowse link
G Kcnt1 potassium sodium-activated channel subfamily T member 1 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chrNW_004936669:1,834,879...1,867,572
Ensembl chrNW_004936669:1,834,582...1,871,791 		JBrowse link
G Lcn1 lipocalin 1 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chrNW_004936669:1,996,399...2,000,130 JBrowse link
G Lcn10 lipocalin 10 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chrNW_004936669:1,147,791...1,150,313
Ensembl chrNW_004936669:1,147,791...1,150,313 		JBrowse link
G Lcn15 lipocalin 15 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chrNW_004936669:1,125,407...1,129,016
Ensembl chrNW_004936669:1,125,316...1,130,443 		JBrowse link
G Lcn6 lipocalin 6 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chrNW_004936669:1,143,840...1,146,461
Ensembl chrNW_004936669:1,143,840...1,146,529 		JBrowse link
G Lcn8 lipocalin 8 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chrNW_004936669:1,131,292...1,134,313
Ensembl chrNW_004936669:1,131,292...1,133,597 		JBrowse link
G Lcn9 lipocalin 9 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chrNW_004936669:1,930,222...1,932,053 JBrowse link
G Lcnl1 lipocalin like 1 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chrNW_004936669:957,801...960,114 JBrowse link
G Lhx3 LIM homeobox 3 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chrNW_004936669:1,561,433...1,573,074
Ensembl chrNW_004936669:1,564,102...1,573,047 		JBrowse link
G LOC101971854 surfeit locus protein 1 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chrNW_004936669:3,527,741...3,532,087
Ensembl chrNW_004936669:3,527,761...3,534,586 		JBrowse link
G Mamdc4 MAM domain containing 4 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chrNW_004936669:1,055,181...1,063,638
Ensembl chrNW_004936669:1,056,583...1,064,320 		JBrowse link
G Man1b1 mannosidase alpha class 1B member 1 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chrNW_004936669:855,349...867,763
Ensembl chrNW_004936669:855,340...871,516 		JBrowse link
G Med22 mediator complex subunit 22 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chrNW_004936669:3,535,646...3,541,643
Ensembl chrNW_004936669:3,535,640...3,542,338 		JBrowse link
G Mrps2 mitochondrial ribosomal protein S2 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chrNW_004936669:2,064,046...2,066,136
Ensembl chrNW_004936669:2,064,016...2,066,247 		JBrowse link
G Mymk myomaker, myoblast fusion factor ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chrNW_004936669:3,404,729...3,413,123
Ensembl chrNW_004936669:3,404,704...3,413,136 		JBrowse link
G Nacc2 NACC family member 2 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chrNW_004936669:1,670,798...1,703,757
Ensembl chrNW_004936669:1,670,423...1,703,781 		JBrowse link
G Notch1 notch receptor 1 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chrNW_004936669:1,292,016...1,334,061
Ensembl chrNW_004936669:1,292,088...1,332,428 		JBrowse link
G Npdc1 neural proliferation, differentiation and control 1 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chrNW_004936669:908,261...913,964
Ensembl chrNW_004936669:908,461...914,205 		JBrowse link
G Olfm1 olfactomedin 1 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chrNW_004936669:2,291,328...2,314,414
Ensembl chrNW_004936669:2,291,228...2,314,148 		JBrowse link
G Paxx PAXX non-homologous end joining factor ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chrNW_004936669:951,256...952,804
Ensembl chrNW_004936669:951,261...952,769 		JBrowse link
G Phpt1 phosphohistidine phosphatase 1 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chrNW_004936669:1,065,901...1,067,214
Ensembl chrNW_004936669:1,065,900...1,067,214 		JBrowse link
G Pierce1 piercer of microtubule wall 1 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chrNW_004936669:2,067,544...2,072,052
Ensembl chrNW_004936669:2,067,612...2,071,788 		JBrowse link
G Pmpca peptidase, mitochondrial processing subunit alpha ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chrNW_004936669:1,385,010...1,395,715
Ensembl chrNW_004936669:1,386,817...1,395,597 		JBrowse link
G Ppp1r26 protein phosphatase 1 regulatory subunit 26 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chrNW_004936669:2,074,225...2,081,872
Ensembl chrNW_004936669:2,075,659...2,079,459 		JBrowse link
G Ptgds prostaglandin D2 synthase ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chrNW_004936669:961,246...964,584
Ensembl chrNW_004936669:961,034...965,136 		JBrowse link
G Qsox2 quiescin sulfhydryl oxidase 2 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chrNW_004936669:1,542,607...1,561,118
Ensembl chrNW_004936669:1,542,607...1,565,688 		JBrowse link
G Rabl6 RAB, member RAS oncogene family like 6 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chrNW_004936669:1,075,556...1,102,404
Ensembl chrNW_004936669:1,075,218...1,102,404 		JBrowse link
G Ralgds ral guanine nucleotide dissociation stimulator ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chrNW_004936487:19,475,361...19,501,347
Ensembl chrNW_004936487:19,476,205...19,495,105 		JBrowse link
G Rexo4 REX4 homolog, 3'-5' exonuclease ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chrNW_004936669:3,479,778...3,504,938
Ensembl chrNW_004936669:3,481,294...3,491,572 		JBrowse link
G Rpl7a ribosomal protein L7a ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chrNW_004936669:3,532,139...3,534,586
Ensembl chrNW_004936669:3,532,139...3,534,586 		JBrowse link
G Rxra retinoid X receptor alpha ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chrNW_004936669:2,735,111...2,763,060
Ensembl chrNW_004936669:2,738,448...2,763,070 		JBrowse link
G Sapcd2 suppressor APC domain containing 2 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chrNW_004936669:888,911...893,981
Ensembl chrNW_004936669:888,580...893,987 		JBrowse link
G Sardh sarcosine dehydrogenase ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chrNW_004936669:3,244,302...3,297,906
Ensembl chrNW_004936669:3,243,762...3,297,905 		JBrowse link
G Sec16a SEC16 homolog A, endoplasmic reticulum export factor ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chrNW_004936669:1,344,019...1,375,483
Ensembl chrNW_004936669:1,343,879...1,375,508 		JBrowse link
G Setx senataxin ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chrNW_004936487:18,858,384...18,945,253
Ensembl chrNW_004936487:18,855,744...18,944,158 		JBrowse link
G Slc2a6 solute carrier family 2 member 6 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chrNW_004936669:3,432,206...3,438,849
Ensembl chrNW_004936669:3,432,188...3,442,531 		JBrowse link
G Snapc4 small nuclear RNA activating complex polypeptide 4 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chrNW_004936669:1,405,306...1,428,222
Ensembl chrNW_004936669:1,405,275...1,425,248 		JBrowse link
G Sohlh1 spermatogenesis and oogenesis specific basic helix-loop-helix 1 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chrNW_004936669:1,901,892...1,912,184 JBrowse link
G Spaca9 sperm acrosome associated 9 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936487:19,322,207...19,331,434
Ensembl chrNW_004936487:19,322,201...19,330,245 		JBrowse link
G Stkld1 serine/threonine kinase like domain containing 1 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chrNW_004936669:3,492,507...3,511,297
Ensembl chrNW_004936669:3,492,615...3,509,583 		JBrowse link
G Surf2 surfeit 2 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chrNW_004936669:3,524,070...3,527,697
Ensembl chrNW_004936669:3,522,845...3,527,644 		JBrowse link
G Surf4 surfeit 4 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chrNW_004936669:3,518,616...3,523,808
Ensembl chrNW_004936669:3,518,420...3,523,798 		JBrowse link
G Surf6 surfeit 6 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chrNW_004936669:3,543,250...3,548,756
Ensembl chrNW_004936669:3,542,644...3,548,762 		JBrowse link
G Tmem141 transmembrane protein 141 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chrNW_004936669:1,102,653...1,115,411
Ensembl chrNW_004936669:1,114,321...1,115,474 		JBrowse link
G Tmem250 transmembrane protein 250 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chrNW_004936669:1,625,459...1,628,801
Ensembl chrNW_004936669:1,626,877...1,627,296 		JBrowse link
G Traf2 TNF receptor associated factor 2 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chrNW_004936669:1,004,891...1,034,913
Ensembl chrNW_004936669:1,003,528...1,029,249 		JBrowse link
G Tsc1 TSC complex subunit 1 treatment ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 OMIM
ClinVar
RGD		 PMID:9242607 PMID:9328481 PMID:9536098 PMID:9803264 PMID:9863590 More... RGD:11570507 NCBI chrNW_004936487:19,331,183...19,386,841
Ensembl chrNW_004936487:19,331,194...19,386,892 		JBrowse link
G Tsc2 TSC complex subunit 2 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:10205261 PMID:17304050 PMID:21520333 PMID:25741868 PMID:27859028 More... NCBI chrNW_004936694:1,958,152...1,993,373
Ensembl chrNW_004936694:1,958,154...1,993,363 		JBrowse link
G Ttf1 transcription termination factor 1 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chrNW_004936487:18,956,364...18,983,850
Ensembl chrNW_004936487:18,956,899...18,983,888 		JBrowse link
G Uap1l1 UDP-N-acetylglucosamine pyrophosphorylase 1 like 1 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chrNW_004936669:878,938...884,469
Ensembl chrNW_004936669:876,803...884,560 		JBrowse link
G Ubac1 UBA domain containing 1 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chrNW_004936669:1,742,065...1,759,119
Ensembl chrNW_004936669:1,741,751...1,759,117 		JBrowse link
G Vav2 vav guanine nucleotide exchange factor 2 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chrNW_004936669:3,062,538...3,234,167
Ensembl chrNW_004936669:3,112,499...3,232,212 		JBrowse link
G Wdr5 WD repeat domain 5 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chrNW_004936669:2,943,759...2,959,788
Ensembl chrNW_004936669:2,943,656...2,958,409 		JBrowse link
tuberous sclerosis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Baiap3 BAI1 associated protein 3 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chrNW_004936694:2,542,521...2,556,540
Ensembl chrNW_004936694:2,543,195...2,556,540 		JBrowse link
G Bricd5 BRICHOS domain containing 5 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:25741868 NCBI chrNW_004936694:1,836,566...1,838,950
Ensembl chrNW_004936694:1,837,357...1,838,819 		JBrowse link
G C1qtnf8 C1q and TNF related 8 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chrNW_004936501:53,208...54,391 JBrowse link
G Cacna1h calcium voltage-gated channel subunit alpha1 H ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chrNW_004936694:2,702,224...2,724,574 JBrowse link
G Caskin1 CASK interacting protein 1 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:25741868 NCBI chrNW_004936694:1,856,529...1,868,107
Ensembl chrNW_004936694:1,856,603...1,866,617 		JBrowse link
G Ccdc154 coiled-coil domain containing 154 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chrNW_004936694:2,468,281...2,475,901
Ensembl chrNW_004936694:2,468,281...2,475,487 		JBrowse link
G Ccdc78 coiled-coil domain containing 78 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chrNW_004936501:289,765...294,272 JBrowse link
G Chtf18 chromosome transmission fidelity factor 18 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chrNW_004936501:232,387...240,866 JBrowse link
G Ciao3 cytosolic iron-sulfur assembly component 3 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chrNW_004936501:277,525...286,929
Ensembl chrNW_004936501:277,518...286,932 		JBrowse link
G Clcn7 chloride voltage-gated channel 7 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chrNW_004936694:2,444,321...2,467,734
Ensembl chrNW_004936694:2,444,343...2,467,733 		JBrowse link
G Cramp1 cramped chromatin regulator homolog 1 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:20498439 PMID:28492532 PMID:29932062 NCBI chrNW_004936694:2,284,315...2,341,033
Ensembl chrNW_004936694:2,287,663...2,341,030 		JBrowse link
G CUNH16orf91 chromosome unknown C16orf91 homolog ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chrNW_004936694:2,484,092...2,485,012
Ensembl chrNW_004936694:2,483,632...2,485,712 		JBrowse link
G Dnase1l2 deoxyribonuclease 1 like 2 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:25741868 NCBI chrNW_004936694:1,808,184...1,810,735
Ensembl chrNW_004936694:1,808,463...1,810,019 		JBrowse link
G E4f1 E4F transcription factor 1 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:25741868 NCBI chrNW_004936694:1,811,131...1,829,193
Ensembl chrNW_004936694:1,809,882...1,829,157 		JBrowse link
G Eci1 enoyl-CoA delta isomerase 1 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:25741868 NCBI chrNW_004936694:1,794,673...1,807,306
Ensembl chrNW_004936694:1,794,670...1,807,299 		JBrowse link
G Eme2 essential meiotic structure-specific endonuclease subunit 2 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:20498439 PMID:28492532 PMID:29932062 NCBI chrNW_004936694:2,217,352...2,220,556
Ensembl chrNW_004936694:2,217,811...2,220,432 		JBrowse link
G Fahd1 fumarylacetoacetate hydrolase domain containing 1 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:20498439 PMID:28492532 PMID:29932062 NCBI chrNW_004936694:2,179,730...2,181,296 JBrowse link
G Fbxl16 F-box and leucine rich repeat protein 16 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chrNW_004936501:308,682...320,774
Ensembl chrNW_004936501:308,531...319,055 		JBrowse link
G Gfer growth factor, augmenter of liver regeneration ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:10205261 PMID:16114042 PMID:17287951 PMID:17304050 PMID:20498439 More... NCBI chrNW_004936694:2,051,362...2,053,812
Ensembl chrNW_004936694:2,051,325...2,053,818 		JBrowse link
G Gng13 G protein subunit gamma 13 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chrNW_004936501:230,439...232,426
Ensembl chrNW_004936501:232,009...232,413 		JBrowse link
G Gnptg N-acetylglucosamine-1-phosphate transferase subunit gamma ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chrNW_004936694:2,529,634...2,540,474
Ensembl chrNW_004936694:2,529,640...2,540,328 		JBrowse link
G Hagh hydroxyacylglutathione hydrolase ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:20498439 PMID:28492532 PMID:29932062 NCBI chrNW_004936694:2,181,475...2,200,469
Ensembl chrNW_004936694:2,181,501...2,194,007 		JBrowse link
G Haghl hydroxyacylglutathione hydrolase like ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chrNW_004936501:286,958...290,062
Ensembl chrNW_004936501:287,013...290,062 		JBrowse link
G Hs3st6 heparan sulfate-glucosamine 3-sulfotransferase 6 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:20498439 PMID:25741868 PMID:28492532 More... Ensembl chrNW_004936694:2,100,040...2,105,658 JBrowse link
G Ifng interferon gamma ISO OMIM NCBI chrNW_004936545:6,139,130...6,144,543
Ensembl chrNW_004936545:6,139,116...6,148,452 		JBrowse link
G Ift140 intraflagellar transport 140 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:20498439 PMID:28492532 PMID:29932062 NCBI chrNW_004936694:2,344,448...2,419,396
Ensembl chrNW_004936694:2,344,283...2,423,520 		JBrowse link
G Igfals insulin like growth factor binding protein acid labile subunit ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:20498439 PMID:28492532 PMID:29932062 NCBI chrNW_004936694:2,205,294...2,207,343
Ensembl chrNW_004936694:2,204,182...2,207,328 		JBrowse link
G Jmjd8 jumonji domain containing 8 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chrNW_004936501:327,053...328,789
Ensembl chrNW_004936501:327,150...328,720 		JBrowse link
G Jpt2 Jupiter microtubule associated homolog 2 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:20498439 PMID:28492532 PMID:29932062 NCBI chrNW_004936694:2,265,360...2,283,887
Ensembl chrNW_004936694:2,265,360...2,283,878 		JBrowse link
G Lmf1 lipase maturation factor 1 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chrNW_004936501:138,470...200,120
Ensembl chrNW_004936501:140,661...204,127 		JBrowse link
G Mapk8ip3 mitogen-activated protein kinase 8 interacting protein 3 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:20498439 PMID:28492532 PMID:29932062 NCBI chrNW_004936694:2,223,020...2,263,388
Ensembl chrNW_004936694:2,222,996...2,263,390 		JBrowse link
G Mcrip2 MAPK regulated corepressor interacting protein 2 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chrNW_004936501:360,671...365,512
Ensembl chrNW_004936501:360,688...365,497 		JBrowse link
G Meiob meiosis specific with OB-fold ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:20498439 PMID:25741868 PMID:28492532 More... NCBI chrNW_004936694:2,099,967...2,176,279 JBrowse link
G Metrn meteorin, glial cell differentiation regulator ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chrNW_004936501:295,970...301,344
Ensembl chrNW_004936501:294,359...296,020
Ensembl chrNW_004936501:294,359...296,020 		JBrowse link
G Mettl26 methyltransferase like 26 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chrNW_004936501:368,532...371,075
Ensembl chrNW_004936501:368,775...371,075 		JBrowse link
G Mlst8 MTOR associated protein, LST8 homolog ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:25741868 NCBI chrNW_004936694:1,839,135...1,849,307
Ensembl chrNW_004936694:1,834,701...1,842,719 		JBrowse link
G Mrps34 mitochondrial ribosomal protein S34 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:20498439 PMID:28492532 PMID:29932062 NCBI chrNW_004936694:2,220,492...2,221,716
Ensembl chrNW_004936694:2,220,475...2,221,714 		JBrowse link
G Msrb1 methionine sulfoxide reductase B1 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:20498439 PMID:25741868 PMID:28492532 More... NCBI chrNW_004936694:2,086,573...2,090,752
Ensembl chrNW_004936694:2,086,822...2,089,932 		JBrowse link
G Ndufb10 NADH:ubiquinone oxidoreductase subunit B10 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:10205261 PMID:16114042 PMID:17287951 PMID:17304050 PMID:20498439 More... NCBI chrNW_004936694:2,073,481...2,075,989
Ensembl chrNW_004936694:2,073,354...2,076,043 		JBrowse link
G Nherf2 NHERF family PDZ scaffold protein 2 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:10205261 PMID:16114042 PMID:17287951 PMID:17304050 PMID:20498439 More... NCBI chrNW_004936694:2,000,977...2,006,102
Ensembl chrNW_004936694:2,000,854...2,006,567 		JBrowse link
G Nme3 NME/NM23 nucleoside diphosphate kinase 3 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:20498439 PMID:28492532 PMID:29932062 NCBI chrNW_004936694:2,222,055...2,222,977
Ensembl chrNW_004936694:2,221,915...2,222,814 		JBrowse link
G Noxo1 NADPH oxidase organizer 1 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:10205261 PMID:16114042 PMID:17287951 PMID:17304050 PMID:20498439 More... NCBI chrNW_004936694:2,054,429...2,060,098
Ensembl chrNW_004936694:2,057,836...2,059,891 		JBrowse link
G Npw neuropeptide W ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:10205261 PMID:16114042 PMID:17287951 PMID:17304050 PMID:20498439 More... NCBI chrNW_004936694:2,017,040...2,019,583 JBrowse link
G Nthl1 nth like DNA glycosylase 1 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:10205261 PMID:16114042 PMID:17287951 PMID:17304050 PMID:20498439 More... NCBI chrNW_004936694:1,993,443...2,000,323
Ensembl chrNW_004936694:1,993,443...2,000,333 		JBrowse link
G Nubp2 NUBP iron-sulfur cluster assembly factor 2, cytosolic ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:20498439 PMID:28492532 PMID:29932062 NCBI chrNW_004936694:2,208,102...2,211,910
Ensembl chrNW_004936694:2,208,518...2,211,653 		JBrowse link
G Pgp phosphoglycolate phosphatase ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:25741868 NCBI chrNW_004936694:1,834,016...1,836,359 JBrowse link
G Pigq phosphatidylinositol glycan anchor biosynthesis class Q ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chrNW_004936501:415,232...429,902
Ensembl chrNW_004936501:414,905...429,600 		JBrowse link
G Pkd1 polycystin 1, transient receptor potential channel interacting ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:9829910 PMID:10205261 PMID:11112665 PMID:15024740 PMID:15874888 More... NCBI chrNW_004936694:1,923,383...1,958,160
Ensembl chrNW_004936694:1,930,621...1,957,179 		JBrowse link
G Ptx4 pentraxin 4 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chrNW_004936694:2,435,291...2,439,837
Ensembl chrNW_004936694:2,436,755...2,441,802 		JBrowse link
G Rab26 RAB26, member RAS oncogene family ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:25741868 NCBI chrNW_004936694:1,896,360...1,902,272
Ensembl chrNW_004936694:1,893,076...1,902,605 		JBrowse link
G Rab40c RAB40C, member RAS oncogene family ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chrNW_004936501:375,663...409,243
Ensembl chrNW_004936501:373,859...409,267 		JBrowse link
G Rhbdl1 rhomboid like 1 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chrNW_004936501:332,838...335,057
Ensembl chrNW_004936501:332,512...335,276 		JBrowse link
G Rhot2 ras homolog family member T2 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chrNW_004936501:336,506...341,671 JBrowse link
G Rnf151 ring finger protein 151 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:10205261 PMID:16114042 PMID:17287951 PMID:17304050 PMID:20498439 More... NCBI chrNW_004936694:2,066,869...2,069,537 JBrowse link
G Rpl3l ribosomal protein L3 like ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:10205261 PMID:16114042 PMID:17287951 PMID:17304050 PMID:20498439 More... NCBI chrNW_004936694:2,078,903...2,086,333
Ensembl chrNW_004936694:2,078,903...2,086,354 		JBrowse link
G Rps2 ribosomal protein S2 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:10205261 PMID:16114042 PMID:17287951 PMID:17304050 PMID:20498439 More... NCBI chrNW_004936694:2,071,295...2,073,409 JBrowse link
G Rpusd1 RNA pseudouridine synthase domain containing 1 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chrNW_004936501:241,190...244,180
Ensembl chrNW_004936501:241,232...244,366 		JBrowse link
G Serpinc1 serpin family C member 1 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:21264449 PMID:23932013 PMID:25298121 PMID:28492532 NCBI chrNW_004936481:13,981,014...13,993,750
Ensembl chrNW_004936481:13,981,019...13,993,634 		JBrowse link
G Sox8 SRY-box transcription factor 8 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chrNW_004936501:128,386...132,648
Ensembl chrNW_004936501:127,703...132,704 		JBrowse link
G Spsb3 splA/ryanodine receptor domain and SOCS box containing 3 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:20498439 PMID:28492532 PMID:29932062 NCBI chrNW_004936694:2,212,022...2,217,409
Ensembl chrNW_004936694:2,212,299...2,217,140 		JBrowse link
G Sstr5 somatostatin receptor 5 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chrNW_004936501:60,812...63,149
Ensembl chrNW_004936501:62,031...63,122 		JBrowse link
G Stub1 STIP1 homology and U-box containing protein 1 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chrNW_004936501:328,767...330,963
Ensembl chrNW_004936501:326,451...330,983 		JBrowse link
G Syngr3 synaptogyrin 3 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:10205261 PMID:16114042 PMID:17287951 PMID:17304050 PMID:20498439 More... NCBI chrNW_004936694:2,043,646...2,047,897
Ensembl chrNW_004936694:2,043,657...2,047,883 		JBrowse link
G Tbl3 transducin beta like 3 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:10205261 PMID:16114042 PMID:17287951 PMID:17304050 PMID:20498439 More... NCBI chrNW_004936694:2,060,218...2,066,525
Ensembl chrNW_004936694:2,060,220...2,066,575 		JBrowse link
G Telo2 telomere maintenance 2 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chrNW_004936694:2,418,223...2,433,630
Ensembl chrNW_004936694:2,419,855...2,433,767 		JBrowse link
G Tmem204 transmembrane protein 204 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:20498439 PMID:28492532 PMID:29932062 NCBI chrNW_004936694:2,382,672...2,402,798
Ensembl chrNW_004936694:2,382,662...2,402,981 		JBrowse link
G Traf7 TNF receptor associated factor 7 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:25741868 NCBI chrNW_004936694:1,868,309...1,886,772 JBrowse link
G Tsc2 TSC complex subunit 2 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 OMIM
ClinVar		 PMID:3 PMID:1112665 PMID:1520333 PMID:1870099 PMID:2039137 More... NCBI chrNW_004936694:1,958,152...1,993,373
Ensembl chrNW_004936694:1,958,154...1,993,363 		JBrowse link
G Tsr3 TSR3 ribosome maturation factor ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chrNW_004936694:2,540,446...2,542,666
Ensembl chrNW_004936694:2,540,444...2,542,666 		JBrowse link
G Ube2i ubiquitin conjugating enzyme E2 I ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chrNW_004936694:2,561,701...2,571,284
Ensembl chrNW_004936694:2,561,681...2,576,647 		JBrowse link
G Unkl unk like zinc finger ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chrNW_004936694:2,492,102...2,529,662
Ensembl chrNW_004936694:2,492,102...2,527,305 		JBrowse link
G Wdr24 WD repeat domain 24 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chrNW_004936501:321,877...326,984
Ensembl chrNW_004936501:321,924...327,253 		JBrowse link
G Wdr90 WD repeat domain 90 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chrNW_004936501:342,376...359,853
Ensembl chrNW_004936501:342,664...359,776 		JBrowse link
G Wfikkn1 WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 1 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chrNW_004936501:371,328...375,271
Ensembl chrNW_004936501:371,384...373,859 		JBrowse link
G Znf598 zinc finger protein 598, E3 ubiquitin ligase ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:10205261 PMID:16114042 PMID:17287951 PMID:17304050 PMID:20498439 More... NCBI chrNW_004936694:2,019,714...2,035,885
Ensembl chrNW_004936694:2,023,806...2,036,864 		JBrowse link
Warburg micro syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rab18 RAB18, member RAS oncogene family ISO ClinVar Annotator: match by term: Warburg micro syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936613:1,875,366...1,909,080 JBrowse link
G Rab3gap1 RAB3 GTPase activating protein catalytic subunit 1 ISO ClinVar Annotator: match by term: Warburg micro syndrome ClinVar PMID:25741868 PMID:26467025 PMID:28492532 PMID:35196747 NCBI chrNW_004936469:40,642,240...40,727,831
Ensembl chrNW_004936469:40,641,928...40,727,837 		JBrowse link
G Rab3gap2 RAB3 GTPase activating non-catalytic protein subunit 2 ISO ClinVar Annotator: match by term: Warburg micro syndrome ClinVar PMID:28492532 NCBI chrNW_004936650:1,944,291...2,054,847
Ensembl chrNW_004936650:1,944,346...2,056,665 		JBrowse link
G Tbc1d20 TBC1 domain family member 20 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004936485:18,034,776...18,055,741
Ensembl chrNW_004936485:18,034,732...18,055,767 		JBrowse link
Warburg micro syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rab3gap1 RAB3 GTPase activating protein catalytic subunit 1 ISO ClinVar Annotator: match by term: RAB3GAP1-related condition | ClinVar Annotator: match by term: Warburg micro syndrome 1 OMIM
ClinVar		 PMID:8249951 PMID:9536098 PMID:15216543 PMID:15696165 PMID:16199547 More... NCBI chrNW_004936469:40,642,240...40,727,831
Ensembl chrNW_004936469:40,641,928...40,727,837 		JBrowse link
Warburg micro syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rab3gap2 RAB3 GTPase activating non-catalytic protein subunit 2 ISO ClinVar Annotator: match by term: MICRO SYNDROME 2 | ClinVar Annotator: match by term: Warburg micro syndrome 2 OMIM
ClinVar		 PMID:16199547 PMID:20967465 PMID:23420520 PMID:24033266 PMID:25741868 More... NCBI chrNW_004936650:1,944,291...2,054,847
Ensembl chrNW_004936650:1,944,346...2,056,665 		JBrowse link
Warburg micro syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rab18 RAB18, member RAS oncogene family ISO ClinVar Annotator: match by term: Warburg micro syndrome 3 OMIM
ClinVar		 PMID:21473985 PMID:23420520 PMID:25741868 PMID:28492532 PMID:29300443 NCBI chrNW_004936613:1,875,366...1,909,080 JBrowse link
Warburg micro syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tbc1d20 TBC1 domain family member 20 ISO ClinVar Annotator: match by term: Warburg micro syndrome 4 OMIM
ClinVar		 PMID:24239381 PMID:25741868 PMID:32740904 NCBI chrNW_004936485:18,034,776...18,055,741
Ensembl chrNW_004936485:18,034,732...18,055,767 		JBrowse link
Warburton Anyane Yeboa Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bub1b BUB1 mitotic checkpoint serine/threonine kinase B ISO ClinVar Annotator: match by term: Warburton-Anyane-Yeboa syndrome ClinVar PMID:24728327 PMID:25741868 PMID:28492532 NCBI chrNW_004936471:3,631,760...3,696,024
Ensembl chrNW_004936471:3,633,536...3,695,684 		JBrowse link
Webb-Dattani Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arnt2 aryl hydrocarbon receptor nuclear translocator 2 ISO ClinVar Annotator: match by term: Webb-Dattani syndrome OMIM
ClinVar		 PMID:24022475 PMID:25741868 PMID:28492532 NCBI chrNW_004936483:20,041,712...20,218,853
Ensembl chrNW_004936483:20,041,657...20,218,965 		JBrowse link
Wiedemann-Steiner syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arid1b AT-rich interaction domain 1B ISO ClinVar Annotator: match by term: Wiedemann-Steiner syndrome ClinVar NCBI chrNW_004936489:8,811,094...9,202,423
Ensembl chrNW_004936489:9,087,697...9,205,203 		JBrowse link
G Chd7 chromodomain helicase DNA binding protein 7 ISO ClinVar Annotator: match by term: Wiedemann-Steiner syndrome ClinVar NCBI chrNW_004936496:12,381,225...12,505,121
Ensembl chrNW_004936496:12,381,126...12,505,150 		JBrowse link
G Kmt2a lysine methyltransferase 2A ISO ClinVar Annotator: match by term: KMT2A-related condition | ClinVar Annotator: match by term: Wiedemann-Steiner syndrome OMIM
ClinVar		 PMID:5519603 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 More... NCBI chrNW_004936542:3,480,071...3,566,823
Ensembl chrNW_004936542:3,391,774...3,562,147 		JBrowse link
G Smc1a structural maintenance of chromosomes 1A ISO ClinVar Annotator: match by term: Wiedemann-Steiner syndrome ClinVar PMID:25574841 NCBI chrNW_004936751:332,351...388,756
Ensembl chrNW_004936751:349,597...388,755 		JBrowse link
X-linked VACTERL association term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Baz1a bromodomain adjacent to zinc finger domain 1A ISO ClinVar Annotator: match by term: VATER/VACTERL association with CNS malformations ClinVar NCBI chrNW_004936494:8,968,704...9,080,620
Ensembl chrNW_004936494:8,968,704...9,080,620 		JBrowse link
G Fancb FA complementation group B ISO ClinVar Annotator: match by term: VACTERL ASSOCIATION, X-LINKED | ClinVar Annotator: match by term: VACTERL association, X-linked, with or without hydrocephalus | ClinVar Annotator: match by term: VACTERL-H | ClinVar Annotator: match by term: VACTERL-H, X-LINKED | ClinVar Annotator: match by term: X-linked VACTERL-H syndrome ClinVar PMID:24033266 PMID:25741868 PMID:28492532 PMID:32546565 NCBI chrNW_004936470:4,305,220...4,323,456
Ensembl chrNW_004936470:4,305,740...4,323,374 		JBrowse link
G Fancl FA complementation group L ISO ClinVar Annotator: match by term: VACTERL association, X-linked, with or without hydrocephalus ClinVar PMID:19405097 PMID:23613520 PMID:25741868 PMID:25754594 PMID:28492532 More... NCBI chrNW_004936491:4,057,312...4,119,966
Ensembl chrNW_004936491:4,029,388...4,119,976 		JBrowse link
G Pten phosphatase and tensin homolog ISO ClinVar Annotator: match by term: VACTERL-H | ClinVar Annotator: match by term: Vater association with macrocephaly and ventriculomegaly ClinVar PMID:10866302 PMID:11748304 PMID:17526800 PMID:17526801 PMID:17942903 More... NCBI chrNW_004936735:1,252,414...1,338,318
Ensembl chrNW_004936735:1,252,414...1,338,323 		JBrowse link
G Sall1 spalt like transcription factor 1 ISO ClinVar Annotator: match by term: VACTERL-H ClinVar PMID:25741868 NCBI chrNW_004936475:4,106,663...4,121,356
Ensembl chrNW_004936475:4,106,084...4,121,413 		JBrowse link
G Zic3 Zic family member 3 ISO ClinVar Annotator: match by term: VACTERL association with hydrocephaly, X-linked | ClinVar Annotator: match by term: VACTERL association, X-linked, with or without hydrocephalus OMIM
ClinVar		 PMID:2629409 PMID:10980576 PMID:14681828 PMID:17764085 PMID:23427188 More... NCBI chrNW_004936513:9,780,895...9,792,865
Ensembl chrNW_004936513:9,786,709...9,793,077 		JBrowse link
Zaki syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wls Wnt ligand secretion mediator ISO ClinVar Annotator: match by term: Zaki syndrome OMIM
ClinVar		 PMID:25741868 PMID:34587386 NCBI chrNW_004936591:3,537,981...3,639,774
Ensembl chrNW_004936591:3,537,981...3,639,774 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    disease of anatomical entity 14117
      nervous system disease 12341
        Nervous System Malformations 2280
          complex cortical dysplasia with other brain malformations 1547
            Malformations of Cortical Development, Group I 1335
              Cerebellar Granule Cell Hypertrophy and Megalencephaly 0
              Focal Cortical Dysplasia of Taylor + 5
              Macrocephaly + 81
              microcephaly + 1105
              tuberous sclerosis + 168
Path 2
Term Annotations click to browse term
  disease 16465
    Developmental Disease 16381
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 16324
        genetic disease 16311
          monogenic disease 9607
            autosomal genetic disease 8891
              autosomal dominant disease 5828
                complex cortical dysplasia with other brain malformations 1547
                  Malformations of Cortical Development, Group I 1335
                    Cerebellar Granule Cell Hypertrophy and Megalencephaly 0
                    Focal Cortical Dysplasia of Taylor + 5
                    Macrocephaly + 81
                    microcephaly + 1105
                    tuberous sclerosis + 168
paths to the root