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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:microcephaly
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Accession:DOID:10907 term browser browse the term
Definition:A congenital nervous system abnormality that is characterized by a significantly smaller than normal head in infants. (DO)
Synonyms:exact_synonym: Congenital microcephaly;   Microcephalies;   Severe Congenital Microcephalies;   Severe Congenital Microcephaly;   microcephalus;   microencephaly
 narrow_synonym: Classical primary microcephaly;   PRIMARY MICROCEPHALY, RECESSIVE;   PROGRESSIVE MICROCEPHALY
 primary_id: MESH:D008831
 xref: GARD:3603;   GARD:7038;   ICD10CM:Q02;   ICD9CM:742.1;   NCI:C85874
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
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 chr12:35,432,834...35,446,969
Ensembl chr12:36,214,444...36,227,886
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 chr 9:101,834,189...102,005,811
Ensembl chr 9:130,484,333...130,652,941
JBrowse link
G ACADSB acyl-CoA dehydrogenase short/branched chain ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr10:119,565,913...119,612,092
Ensembl chr10:123,839,570...123,886,759
JBrowse link
G ACE angiotensin I converting enzyme ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr17:57,556,294...57,577,294
Ensembl chr17:62,702,341...62,733,853
JBrowse link
G ACTG1 actin gamma 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr17:75,965,911...75,968,822
Ensembl chr17:81,668,221...81,671,087
JBrowse link
G ADAR adenosine deaminase RNA specific ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 1:129,937,993...129,983,747 JBrowse link
G ADARB1 adenosine deaminase RNA specific B1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr21:31,374,841...31,532,721
Ensembl chr21:44,715,931...44,815,748
JBrowse link
G ADAT3 adenosine deaminase tRNA specific 3 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr19:910,954...912,687
Ensembl chr19:1,890,437...1,891,748
JBrowse link
G ADD3 adducin 3 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr10:106,597,693...106,727,494
Ensembl chr10:110,123,270...110,178,671
JBrowse link
G ADGRL2 adhesion G protein-coupled receptor L2 ISO RGD PMID:30340542 RGD:13838661 NCBI chr 1:80,506,240...81,189,353
Ensembl chr 1:83,086,465...83,317,446
JBrowse link
G ADNP activity dependent neuroprotector homeobox ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr20:47,233,696...47,276,075
Ensembl chr20:48,361,043...48,400,387
JBrowse link
G AGT angiotensinogen ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 1:206,252,141...206,263,830
Ensembl chr 1:211,279,015...211,291,044
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 chr  X:100,794,882...100,874,083
Ensembl chr  X:111,253,717...111,332,534
JBrowse link
G ALOXE3 arachidonate epidermal lipoxygenase 3 ISO ClinVar Annotator: match by term: Progressive microcephaly ClinVar PMID:25741868 NCBI chr17:43,539,657...43,562,433
Ensembl chr17:48,271,226...48,293,941
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 chr 1:20,702,509...20,772,301
Ensembl chr 1:21,667,732...21,736,688
JBrowse link
G ALS2 alsin Rho guanine nucleotide exchange factor ALS2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr2B:88,954,167...89,034,764
Ensembl chr2B:207,108,952...207,189,623
JBrowse link
G AMPD2 adenosine monophosphate deaminase 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 1:111,997,440...112,009,662
Ensembl chr 1:111,225,522...111,237,778
JBrowse link
G ANK1 ankyrin 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 8:40,897,879...41,140,290
Ensembl chr 8:38,346,503...38,588,549
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 chr12:130,091,476...130,123,533
Ensembl chr12:134,805,830...134,835,140
JBrowse link
G AP3B2 adaptor related protein complex 3 subunit beta 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr15:62,888,359...62,938,758
Ensembl chr15:80,557,967...80,607,475
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:32979048 NCBI chr 7:92,137,085...92,142,756
Ensembl chr 7:105,570,205...105,575,971
JBrowse link
G ARCN1 archain 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr11:113,411,166...113,441,792
Ensembl chr11:117,341,427...117,371,589
JBrowse link
G ARFGEF2 ARF guanine nucleotide exchange factor 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr20:45,262,330...45,376,237
Ensembl chr20:46,327,753...46,442,518
JBrowse link
G ARHGEF2 Rho/Rac guanine nucleotide exchange factor 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 1:131,282,514...131,326,535
Ensembl chr 1:135,112,040...135,159,299
JBrowse link
G ARID1A AT-rich interaction domain 1A ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:25,960,868...26,047,057
Ensembl chr 1:27,018,616...27,103,239
JBrowse link
G ARID1B AT-rich interaction domain 1B ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 6:154,581,148...155,018,706 JBrowse link
G ARID2 AT-rich interaction domain 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:24728327 PMID:25741868 PMID:28492532 NCBI chr12:42,823,236...43,004,465
Ensembl chr12:43,692,914...43,871,564
JBrowse link
G ARVCF ARVCF delta catenin family member ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr22:2,729,706...2,779,034
Ensembl chr22:18,403,239...18,449,183
JBrowse link
G ASF1A anti-silencing function 1A histone chaperone ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:24824130 NCBI chr 6:116,702,314...116,717,445
Ensembl chr 6:120,843,461...120,858,471
JBrowse link
G ASPM assembly factor for spindle microtubules ISO ClinVar Annotator: match by term: Microcephaly | ClinVar Annotator: match by term: Primary Microcephaly, Recessive ClinVar PMID:19028728 PMID:20301772 PMID:20679666 PMID:22823409 PMID:23611254 More... NCBI chr 1:172,674,890...172,737,426
Ensembl chr 1:176,988,297...177,050,810
JBrowse link
G ASXL1 ASXL transcriptional regulator 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr20:28,647,004...28,727,865
Ensembl chr20:29,774,582...29,850,453
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 chr11:103,109,979...103,256,405
Ensembl chr11:106,584,228...106,727,041
JBrowse link
G ATPAF2 ATP synthase mitochondrial F1 complex assembly factor 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr17:33,256,239...33,280,360
Ensembl chr17:38,203,888...38,224,911
JBrowse link
G ATR ATR serine/threonine kinase ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:139,482,606...139,612,274
Ensembl chr 3:147,075,185...147,196,261
JBrowse link
G ATRX ATRX chromatin remodeler ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:7697714 PMID:23820649 PMID:24690944 PMID:24805811 PMID:25741868 More... NCBI chr  X:66,682,968...66,969,421
Ensembl chr  X:76,795,574...77,083,486
JBrowse link
G B3GALNT2 beta-1,3-N-acetylgalactosaminyltransferase 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:211,006,939...211,064,445
Ensembl chr 1:216,018,886...216,076,060
JBrowse link
G BCAP31 B cell receptor associated protein 31 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr  X:143,265,920...143,274,956
Ensembl chr  X:153,137,992...153,161,628
JBrowse link
G BCL11B BCL11 transcription factor B ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr14:79,795,262...79,898,472 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 chr15:69,407,248...69,508,070
Ensembl chr15:88,607,157...88,707,864
JBrowse link
G BPTF bromodomain PHD finger transcription factor ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr17:61,759,241...61,917,343
Ensembl chr17:66,956,594...67,109,428
JBrowse link
G BUB1B BUB1 mitotic checkpoint serine/threonine kinase B ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr15:19,095,383...19,155,557
Ensembl chr15:37,350,826...37,410,648
JBrowse link
G CALHM4 calcium homeostasis modulator family member 4 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:24824130 NCBI chr 6:114,337,385...114,369,423
Ensembl chr 6:118,482,269...118,512,046
JBrowse link
G CALHM5 calcium homeostasis modulator family member 5 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:24824130 NCBI chr 6:114,319,599...114,325,898
Ensembl chr 6:118,464,517...118,471,411
JBrowse link
G CALHM6 calcium homeostasis modulator family member 6 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:24824130 NCBI chr 6:114,263,062...114,265,898
Ensembl chr 6:118,409,813...118,411,574
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 chr 7:44,930,859...45,040,078
Ensembl chr 7:45,001,267...45,110,342
JBrowse link
G CARS2 cysteinyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr13:91,776,774...91,843,262
Ensembl chr13:110,892,948...110,957,000
JBrowse link
G CASK calcium/calmodulin dependent serine protein kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:19165920 NCBI chr  X:33,967,329...34,374,385
Ensembl chr  X:41,659,295...42,066,570
JBrowse link
G CBL Cbl proto-oncogene ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr11:114,044,996...114,149,204
Ensembl chr11:117,973,187...118,074,671
JBrowse link
G CC2D2A coiled-coil and C2 domain containing 2A ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:9,904,237...10,047,440
Ensembl chr 4:15,204,326...15,349,281
JBrowse link
G CCDC88A coiled-coil domain containing 88A ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr2A:55,445,060...55,576,479
Ensembl chr2A:56,589,221...56,715,362
JBrowse link
G CDC45 cell division cycle 45 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr22:2,239,040...2,279,807
Ensembl chr22:17,913,729...17,955,195
JBrowse link
G CDC6 cell division cycle 6 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr17:16,987,721...17,002,488
Ensembl chr17:17,211,681...17,225,972
JBrowse link
G CDK19 cyclin dependent kinase 19 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 6:108,413,832...108,619,053
Ensembl chr 6:112,483,434...112,686,987
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 chr 9:91,519,179...91,707,469
Ensembl chr 9:119,868,015...120,055,608
JBrowse link
G CDON cell adhesion associated, oncogene regulated ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr11:120,772,160...120,877,529
Ensembl chr11:124,685,084...124,786,091
JBrowse link
G CENPF centromere protein F ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 1:190,170,414...190,231,478
Ensembl chr 1:195,024,877...195,086,518
JBrowse link
G CEP152 centrosomal protein 152 ISO ClinVar Annotator: match by term: Primary Microcephaly, Recessive ClinVar PMID:25741868 NCBI chr15:27,665,278...27,760,808
Ensembl chr15:46,011,447...46,084,233
JBrowse link
G CEP290 centrosomal protein 290 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 PMID:31970223 NCBI chr12:85,589,911...85,683,365
Ensembl chr12:88,896,146...88,988,044
JBrowse link
G CEP63 centrosomal protein 63 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21983783 NCBI chr 3:131,532,450...131,609,240
Ensembl chr 3:139,003,898...139,092,680
JBrowse link
G CEP85L centrosomal protein 85 like ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:24824130 NCBI chr 6:116,270,880...116,461,166
Ensembl chr 6:120,415,944...120,603,797
JBrowse link
G CERT1 ceramide transporter 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 5:39,788,858...39,927,626
Ensembl chr 5:40,400,900...40,539,921
JBrowse link
G CFAP96 cilia and flagella associated protein 96 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 PMID:33473208 NCBI chr 4:177,589,308...177,612,834
Ensembl chr 4:189,805,849...189,828,919
JBrowse link
G CHD2 chromodomain helicase DNA binding protein 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar NCBI chr15:71,568,560...71,713,330
Ensembl chr15:90,781,169...90,903,569
JBrowse link
G CHD7 chromodomain helicase DNA binding protein 7 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 8:57,091,002...57,282,471
Ensembl chr 8:58,816,840...58,945,186
JBrowse link
G CIT citron rho-interacting serine/threonine kinase ISO RGD PMID:10219263 RGD:13204836 NCBI chr12:117,264,627...117,456,069
Ensembl chr12:120,641,747...120,832,511
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 chr2B:8,265,626...8,574,282
Ensembl chr2B:121,840,484...122,102,793
JBrowse link
G CLCN4 chloride voltage-gated channel 4 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr  X:2,787,185...2,867,846
Ensembl chr  X:10,040,067...10,120,991
JBrowse link
G COL4A1 collagen type IV alpha 1 chain ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr13:91,282,617...91,440,187
Ensembl chr13:110,407,009...110,562,529
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 chr 3:48,485,922...48,518,036
Ensembl chr 3:49,568,163...49,598,919
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 chr 3:136,394,480...136,426,544
Ensembl chr 3:143,994,312...144,020,117
JBrowse link
G CPAP centrosome assembly and centriole elongation protein ISO ClinVar Annotator: match by term: Primary Microcephaly, Recessive ClinVar PMID:18414213 PMID:25741868 PMID:28492532 NCBI chr13:6,175,936...6,215,565
Ensembl chr13:24,464,045...24,503,432
JBrowse link
G CPT2 carnitine palmitoyltransferase 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:52,469,416...52,487,166
Ensembl chr 1:54,069,334...54,086,994
JBrowse link
G CSPP1 centrosome and spindle pole associated protein 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:63,607,217...63,739,464
Ensembl chr 8:65,268,837...65,401,069
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 chr21:30,030,359...30,032,899 JBrowse link
G CTBP1 C-terminal binding protein 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 4:1,354,806...1,393,244
Ensembl chr 4:1,238,984...1,266,822
JBrowse link
G CTU2 cytosolic thiouridylase subunit 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:26633546 PMID:27480277 NCBI chr16:69,419,811...69,428,500
Ensembl chr16:89,079,132...89,088,231
JBrowse link
G DCBLD1 discoidin, CUB and LCCL domain containing 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:24824130 NCBI chr 6:115,290,931...115,358,249
Ensembl chr 6:119,434,847...119,519,282
JBrowse link
G DDX11 DEAD/H-box helicase 11 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr12:55,176,165...55,207,123 JBrowse link
G DHCR7 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 chr11:66,450,230...66,464,214
Ensembl chr11:69,721,741...69,735,715
JBrowse link
G DIAPH1 diaphanous related formin 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:24781755 PMID:25558065 PMID:25741868 PMID:28492532 NCBI chr 5:136,876,396...136,980,097 JBrowse link
G DNM1L dynamin 1 like ISO CTD Direct Evidence: marker/mechanism CTD PMID:17460227 NCBI chr12:53,476,553...53,541,421
Ensembl chr12:56,077,504...56,142,376
JBrowse link
G DNMT3A DNA methyltransferase 3 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:30478443 NCBI chr2A:25,229,593...25,344,733
Ensembl chr2A:25,331,095...25,412,605
JBrowse link
G DOCK6 dedicator of cytokinesis 6 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr19:10,747,850...10,811,483
Ensembl chr19:11,459,062...11,513,220
JBrowse link
G DONSON DNA replication fork stabilization factor DONSON ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:27040692 PMID:28191891 PMID:28331220 PMID:28492532 More... NCBI chr21:19,944,692...19,956,140
Ensembl chr21:33,317,841...33,328,132
JBrowse link
G DSE dermatan sulfate epimerase ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:24824130 NCBI chr 6:114,173,641...114,246,129
Ensembl chr 6:118,347,786...118,386,193
JBrowse link
G DYNC1H1 dynein cytoplasmic 1 heavy chain 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23603762 NCBI chr14:82,584,876...82,670,750
Ensembl chr14:102,406,993...102,489,475
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 chr21:23,729,204...23,878,820
Ensembl chr21:37,137,253...37,231,987
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 chr17:12,423,198...12,472,462
Ensembl chr17:12,595,715...12,644,147
JBrowse link
G EIF2B1 eukaryotic translation initiation factor 2B subunit alpha ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr12:121,206,380...121,218,749
Ensembl chr12:125,433,227...125,446,665
JBrowse link
G ELAC2 elaC ribonuclease Z 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr17:38,631,454...38,657,855
Ensembl chr17:43,331,453...43,357,241
JBrowse link
G EMC1 ER membrane protein complex subunit 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:18,176,791...18,210,280
Ensembl chr 1:19,223,355...19,257,835
JBrowse link
G EP300 E1A binding protein p300 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr22:21,986,467...22,076,921
Ensembl chr22:40,079,503...40,168,604
JBrowse link
G EPG5 ectopic P-granules 5 autophagy tethering factor ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr18:39,129,678...39,250,418
Ensembl chr18:42,669,223...42,788,788
JBrowse link
G EPM2A EPM2A glucan phosphatase, laforin ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:143,179,097...143,525,223 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 chr16:12,848,334...12,880,480
Ensembl chr16:14,272,417...14,304,496
JBrowse link
G ERCC6 ERCC excision repair 6, chromatin remodeling factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:10739753 PMID:18628313 NCBI chr10:44,703,720...44,784,948 JBrowse link
G EXT1 exostosin glycosyltransferase 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:24728327 PMID:25741868 PMID:28492532 NCBI chr 8:114,489,325...114,803,763
Ensembl chr 8:117,011,919...117,324,851
JBrowse link
G F8 coagulation factor VIII ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr  X:144,316,192...144,505,773
Ensembl chr  X:154,156,873...154,341,317
JBrowse link
G FAM111A FAM111 trypsin like peptidase A ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr11:54,359,711...54,372,132
Ensembl chr11:57,818,413...57,823,046
JBrowse link
G FAM162B family with sequence similarity 162 member B ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:24824130 NCBI chr 6:114,534,874...114,573,958
Ensembl chr 6:118,704,146...118,717,760
JBrowse link
G FAM184A family with sequence similarity 184 member A ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:24824130 NCBI chr 6:116,768,098...116,957,070
Ensembl chr 6:120,908,644...121,026,173
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 chr16:70,495,310...70,579,275
Ensembl chr16:90,163,950...90,245,147
JBrowse link
G FANCE FA complementation group E ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 6:35,012,076...35,027,018 JBrowse link
G FANCI FA complementation group I ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr15:67,935,882...68,009,033
Ensembl chr15:87,142,871...87,215,271
JBrowse link
G FAT4 FAT atypical cadherin 4 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:117,494,842...117,674,382
Ensembl chr 4:128,637,516...128,814,407
JBrowse link
G FCN3 ficolin 3 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 1:26,620,373...26,636,424
Ensembl chr 1:27,676,866...27,683,861
JBrowse link
G FGF8 fibroblast growth factor 8 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr10:98,372,251...98,378,811
Ensembl chr10:101,844,792...101,853,916
JBrowse link
G FGFRL1 fibroblast growth factor receptor like 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 4:1,125,623...1,142,884
Ensembl chr 4:1,045,583...1,059,936
JBrowse link
G FH fumarate hydratase ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:26467025 PMID:28492532 PMID:30548481 NCBI chr 1:217,059,847...217,081,795
Ensembl chr 1:222,041,142...222,064,212
JBrowse link
G FLNA filamin A ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr  X:143,799,088...143,825,282 JBrowse link
G FOXG1 forkhead box G1 ISO ClinVar Annotator: match by term: Congenital microcephaly ClinVar PMID:25741868
G FRAS1 Fraser extracellular matrix complex subunit 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:45,650,346...46,138,222
Ensembl chr 4:51,500,396...51,981,476
JBrowse link
G FREM1 FRAS1 related extracellular matrix 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 9:14,567,781...14,748,474
Ensembl chr 9:15,081,208...15,253,399
JBrowse link
G FREM2 FRAS1 related extracellular matrix 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr13:19,900,324...20,103,303
Ensembl chr13:38,490,750...38,687,048
JBrowse link
G FRMD4A FERM domain containing 4A ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr10:13,643,371...14,331,368
Ensembl chr10:13,975,845...14,192,399
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 chr 8:7,442,921...7,526,731 JBrowse link
G GATAD1 GATA zinc finger domain containing 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:84,445,039...84,456,781 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 chr17:713,806...721,374
Ensembl chr17:637,677...644,438
JBrowse link
G GLI2 GLI family zinc finger 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr2B:7,665,403...7,922,840
Ensembl chr2B:121,303,831...121,497,442
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 chr16:36,473,852...36,643,789
Ensembl chr16:55,606,920...55,776,619
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 chr 1:490,415...596,826
Ensembl chr 1:1,647,340...1,701,614
JBrowse link
G GOPC golgi associated PDZ and coiled-coil motif containing ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:24824130 NCBI chr 6:115,368,682...115,411,140
Ensembl chr 6:119,509,936...119,552,010
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 chr 6:114,601,360...114,638,286
Ensembl chr 6:118,744,929...118,781,099
JBrowse link
G GRIN2A glutamate ionotropic receptor NMDA type subunit 2A ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr16:8,682,169...9,105,581
Ensembl chr16:9,919,143...10,336,167
JBrowse link
G GRIP1 glutamate receptor interacting protein 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr12:21,841,611...22,562,418
Ensembl chr12:22,744,177...23,069,480
JBrowse link
G HARS1 histidyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 PMID:32333447 NCBI chr 5:136,038,575...136,056,400
Ensembl chr 5:142,154,552...142,172,371
JBrowse link
G HDAC4 histone deacetylase 4 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr2B:126,287,745...126,649,815
Ensembl chr2B:245,123,061...245,427,054
JBrowse link
G HES7 hes family bHLH transcription factor 7 ISO ClinVar Annotator: match by term: Progressive microcephaly ClinVar PMID:25741868 NCBI chr17:43,530,919...43,537,999 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 chr  X:123,609,248...123,650,102
Ensembl chr  X:133,916,681...133,948,197
JBrowse link
G HSPG2 heparan sulfate proteoglycan 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:21,014,951...21,129,937
Ensembl chr 1:21,979,504...22,053,400
JBrowse link
G IBA57 iron-sulfur cluster assembly factor IBA57 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 1:203,566,902...203,577,857 JBrowse link
G IFT122 intraflagellar transport 122 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:126,498,018...126,578,211
Ensembl chr 3:133,851,433...133,930,117
JBrowse link
G IFT140 intraflagellar transport 140 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr16:130,150...232,369
Ensembl chr16:1,566,824...1,658,884
JBrowse link
G IFT74 intraflagellar transport 74 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:26,802,459...26,912,292
Ensembl chr 9:27,415,565...27,514,558
JBrowse link
G IGF1 insulin like growth factor 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr12:99,986,887...100,066,773
Ensembl chr12:103,385,911...103,462,177
JBrowse link
G IQSEC2 IQ motif and Sec7 domain ArfGEF 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr  X:45,447,977...45,535,836
Ensembl chr  X:53,557,563...53,644,737
JBrowse link
G ITGB6 integrin subunit beta 6 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr2B:47,386,913...47,496,491
Ensembl chr2B:164,764,251...164,867,426
JBrowse link
G JARID2 jumonji and AT-rich interaction domain containing 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 6:15,100,415...15,376,505
Ensembl chr 6:15,466,050...15,739,170
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:19632626 More... NCBI chr11:2,469,750...2,874,467 JBrowse link
G KIF11 kinesin family member 11 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr10:89,339,254...89,401,188
Ensembl chr10:92,852,786...92,914,440
JBrowse link
G KIF1C kinesin family member 1C ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr17:5,046,488...5,073,220
Ensembl chr17:5,035,014...5,061,957
JBrowse link
G KIF20B kinesin family member 20B ISO OMIM:251200 | OMIM:604321 | OMIM:604804 | OMIM:608393 | OMIM:608716 | OMIM:612703 MouseDO NCBI chr10:86,428,814...86,501,384
Ensembl chr10:89,968,651...90,041,998
JBrowse link
G KIF23 kinesin family member 23 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:26539891 NCBI chr15:48,364,891...48,399,038
Ensembl chr15:67,135,401...67,169,531
JBrowse link
G KIF2A kinesin family member 2A ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:51,605,954...51,690,921
Ensembl chr 5:53,251,415...53,332,218
JBrowse link
G KIF5C kinesin family member 5C ISO CTD Direct Evidence: marker/mechanism CTD PMID:23603762 NCBI chr2B:10,836,356...10,987,683
Ensembl chr2B:153,235,329...153,387,221
JBrowse link
G KIFBP kinesin family binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:15883926 NCBI chr10:65,455,924...65,484,140
Ensembl chr10:67,989,492...68,017,898
JBrowse link
G KMT2A lysine methyltransferase 2A ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr11:113,273,198...113,364,404
Ensembl chr11:117,204,820...117,290,100
JBrowse link
G KMT2C lysine methyltransferase 2C ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 PMID:39013459 NCBI chr 7:143,714,716...144,016,188
Ensembl chr 7:155,862,610...156,081,043
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 chr12:39,689,463...39,731,904
Ensembl chr12:40,575,083...40,608,661
JBrowse link
G KNL1 kinetochore scaffold 1 ISO ClinVar Annotator: match by term: Primary Microcephaly, Recessive ClinVar PMID:18414213 PMID:25741868 PMID:28492532 NCBI chr15:19,539,264...19,609,593
Ensembl chr15:37,801,705...37,860,858
JBrowse link
G KPNA5 karyopherin subunit alpha 5 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:24824130 NCBI chr 6:114,488,850...114,550,061
Ensembl chr 6:118,641,551...118,684,486
JBrowse link
G LARS1 leucyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:141,562,798...141,631,388
Ensembl chr 5:147,578,042...147,646,834
JBrowse link
G LDLRAD2 low density lipoprotein receptor class A domain containing 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 1:21,005,437...21,014,421
Ensembl chr 1:21,969,991...21,980,470
JBrowse link
G LINS1 lines homolog 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr15:79,293,426...79,328,691
Ensembl chr15:98,583,906...98,616,407
JBrowse link
G LMNB1 lamin B1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 5:122,179,513...122,240,848
Ensembl chr 5:127,949,457...128,010,721
JBrowse link
G LOC100988698 mitochondrial chaperone BCS1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:22277967 PMID:25741868 PMID:28492532 PMID:31316545 PMID:32581362 More... NCBI chr2B:105,917,605...105,921,427
Ensembl chr2B:224,513,223...224,516,856
JBrowse link
G LOC100992172 SBDS ribosome maturation factor ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:12496757 PMID:14749921 PMID:15284109 PMID:15769891 PMID:15860664 More... NCBI chr 7:59,090,343...59,098,332 JBrowse link
G LRP5 LDL receptor related protein 5 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr11:63,396,511...63,534,471
Ensembl chr11:66,735,246...66,839,817
JBrowse link
G MAK16 MAK16 homolog ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 8:32,799,512...32,816,149
Ensembl chr 8:29,986,247...30,002,800
JBrowse link
G MAN1A1 mannosidase alpha class 1A member 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:24824130 NCBI chr 6:116,984,842...117,157,623
Ensembl chr 6:121,127,656...121,298,196
JBrowse link
G MASP1 MBL associated serine protease 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 3:184,241,611...184,317,272
Ensembl chr 3:192,707,784...192,782,196
JBrowse link
G MBD5 methyl-CpG binding domain protein 5 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr2B:11,347,218...11,842,644
Ensembl chr2B:152,754,368...152,874,042
JBrowse link
G MCM4 minichromosome maintenance complex component 4 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:44,387,529...44,404,773
Ensembl chr 8:41,778,247...41,794,783
JBrowse link
G MCM9 minichromosome maintenance 9 homologous recombination repair factor ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:24824130 NCBI chr 6:116,620,188...116,743,435
Ensembl chr 6:120,763,329...120,881,865
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 chr 8:624,877...877,839
Ensembl chr 8:6,409,072...6,646,394
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 chr  X:143,571,864...143,647,192
Ensembl chr  X:153,465,204...153,527,854
JBrowse link
G MED17 mediator complex subunit 17 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr11:88,806,209...88,835,138
Ensembl chr11:92,292,947...92,321,913
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 chr16:2,175,858...2,191,056
Ensembl chr16:3,353,666...3,368,970
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 chr 1:10,729,933...10,764,865
Ensembl chr 1:11,945,880...11,981,077
JBrowse link
G MFSD2A MFSD2 lysolipid transporter A, lysophospholipid ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 1:39,244,438...39,259,156
Ensembl chr 1:40,569,706...40,584,438
JBrowse link
G MIPEP mitochondrial intermediate peptidase ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr13:5,040,237...5,207,674
Ensembl chr13:23,334,267...23,500,582
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 chr17:52,281,443...52,295,919
Ensembl chr17:57,137,254...57,151,328
JBrowse link
G MTFMT mitochondrial methionyl-tRNA formyltransferase ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr15:43,942,227...43,969,182
Ensembl chr15:62,225,620...62,253,612
JBrowse link
G NACC1 nucleus accumbens associated 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr19:12,679,837...12,704,470
Ensembl chr19:13,412,462...13,439,679
JBrowse link
G NAT8L N-acetyltransferase 8 like ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 4:2,201,326...2,211,302 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 chr 8:86,622,797...86,674,202
Ensembl chr 8:88,575,198...88,626,307
JBrowse link
G NEPRO nucleolus and neural progenitor protein ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 3:110,152,415...110,169,736
Ensembl chr 3:117,076,649...117,094,041
JBrowse link
G NF1 neurofibromin 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 PMID:30308447 NCBI chr17:25,425,081...25,703,689
Ensembl chr17:26,160,855...26,439,295
JBrowse link
G NPAS4 neuronal PAS domain protein 4 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr11:61,778,329...61,784,010
Ensembl chr11:65,103,097...65,108,825
JBrowse link
G NSD1 nuclear receptor binding SET domain protein 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 5:172,431,968...172,602,174
Ensembl chr 5:179,499,865...179,666,351
JBrowse link
G NSD2 nuclear receptor binding SET domain protein 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 4:2,009,276...2,119,182
Ensembl chr 4:1,945,307...2,027,425
JBrowse link
G NT5C2 5'-nucleotidase, cytosolic II ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr10:99,687,366...99,790,744
Ensembl chr10:103,148,578...103,251,513
JBrowse link
G NUP188 nucleoporin 188 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:32275884 NCBI chr 9:100,069,656...100,130,521
Ensembl chr 9:128,733,780...128,791,252
JBrowse link
G NUP214 nucleoporin 214 ISO ClinVar Annotator: match by term: Progressive microcephaly ClinVar PMID:25741868 PMID:31178128 NCBI chr 9:102,246,575...102,355,291
Ensembl chr 9:130,893,110...131,001,305
JBrowse link
G NUS1 NUS1 dehydrodolichyl diphosphate synthase subunit ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:24824130 PMID:25741868 NCBI chr 6:115,486,422...115,521,317 JBrowse link
G ORC1 origin recognition complex subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21358633 NCBI chr 1:51,630,344...51,666,327
Ensembl chr 1:53,238,377...53,273,653
JBrowse link
G OTX2 orthodenticle homeobox 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:19965921 PMID:25741868 PMID:28492532 NCBI chr14:37,370,926...37,381,610
Ensembl chr14:55,641,349...55,651,012
JBrowse link
G PAK3 p21 (RAC1) activated kinase 3 ISO ClinVar Annotator: match by term: Microcephaly ClinVar NCBI chr  X:100,060,647...100,345,491
Ensembl chr  X:110,672,664...110,797,992
JBrowse link
G PCLO piccolo presynaptic cytomatrix protein ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:74,714,364...75,126,518 JBrowse link
G PCNT pericentrin ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr21:32,665,361...32,741,592
Ensembl chr21:45,914,665...46,042,990
JBrowse link
G PDGFRB platelet derived growth factor receptor beta ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:145,538,330...145,580,312
Ensembl chr 5:151,543,891...151,585,530
JBrowse link
G PDZD4 PDZ domain containing 4 ISO ClinVar Annotator: match by term: Microcephaly ClinVar NCBI chr  X:143,352,944...143,381,428
Ensembl chr  X:153,240,182...153,267,874
JBrowse link
G PEX1 peroxisomal biogenesis factor 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:84,484,965...84,526,309
Ensembl chr 7:98,081,021...98,122,335
JBrowse link
G PEX16 peroxisomal biogenesis factor 16 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr11:45,864,220...45,872,263
Ensembl chr11:46,355,950...46,364,543
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 chr12:7,318,637...7,340,428
Ensembl chr12:7,235,049...7,255,815
JBrowse link
G PLEKHG2 pleckstrin homology and RhoGEF domain containing G2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr19:36,510,855...36,526,623
Ensembl chr19:45,058,562...45,071,940
JBrowse link
G PLK4 polo like kinase 4 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 4:120,044,423...120,062,544
Ensembl chr 4:131,349,562...131,371,054
JBrowse link
G PLN phospholamban ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:24824130 NCBI chr 6:116,357,335...116,370,382
Ensembl chr 6:120,509,510...120,509,668
JBrowse link
G PNKP polynucleotide kinase 3'-phosphatase ISO CTD Direct Evidence: marker/mechanism CTD PMID:20118933 NCBI chr19:46,874,216...46,880,954
Ensembl chr19:55,790,048...55,796,762
JBrowse link
G POC1A POC1 centriolar protein A ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 3:52,016,372...52,096,073
Ensembl chr 3:53,245,162...53,324,579
JBrowse link
G POLG DNA polymerase gamma, catalytic subunit ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr15:68,008,214...68,028,241
Ensembl chr15:87,214,451...87,234,739
JBrowse link
G POLK DNA polymerase kappa ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 5:39,700,659...39,788,727
Ensembl chr 5:40,311,526...40,401,003
JBrowse link
G PPIL1 peptidylprolyl isomerase like 1 ISO MouseDO NCBI chr 6:36,417,086...36,437,259
Ensembl chr 6:37,612,724...37,632,942
JBrowse link
G PQBP1 polyglutamine binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14634649 PMID:15024694 PMID:16740914 NCBI chr  X:41,188,244...41,200,312
Ensembl chr  X:49,053,030...49,058,585
JBrowse link
G PRDM16 PR/SET domain 16 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:1,730,122...2,100,636
Ensembl chr 1:2,981,667...3,234,251
JBrowse link
G PRKDC protein kinase, DNA-activated, catalytic subunit ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 8:44,201,391...44,386,803
Ensembl chr 8:41,593,029...41,778,299
JBrowse link
G PSAT1 phosphoserine aminotransferase 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 PMID:32077105 PMID:34089226 NCBI chr 9:46,517,253...46,550,018
Ensembl chr 9:77,147,493...77,180,439
JBrowse link
G PTDSS1 phosphatidylserine synthase 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 8:92,886,918...92,959,611
Ensembl chr 8:95,084,103...95,156,104
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:15928039 More... NCBI chr12:110,016,364...110,107,462
Ensembl chr12:113,435,669...113,503,762
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 chr17:76,337,991...76,348,207
Ensembl chr17:82,040,824...82,045,686
JBrowse link
G PYCR2 pyrroline-5-carboxylate reductase 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 1:201,381,270...201,385,703
Ensembl chr 1:206,381,539...206,386,002
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 chr 3:49,020,310...49,029,443
Ensembl chr 3:50,100,216...50,125,112
JBrowse link
G RAB11A RAB11A, member RAS oncogene family ISO ClinVar Annotator: match by term: Congenital microcephaly ClinVar PMID:25741868 NCBI chr15:44,810,880...44,833,438
Ensembl chr15:63,088,084...63,108,077
JBrowse link
G RAB3GAP2 RAB3 GTPase activating non-catalytic protein subunit 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 1:195,720,895...195,842,619
Ensembl chr 1:200,757,097...200,878,819
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 chr17:52,769,446...52,808,467
Ensembl chr17:57,621,552...57,660,701
JBrowse link
G RAG1 recombination activating 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr11:36,483,697...36,546,242
Ensembl chr11:36,412,420...36,422,904
JBrowse link
G RBBP8 RB binding protein 8, endonuclease ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr18:16,181,652...16,274,597
Ensembl chr18:19,811,989...19,903,522
JBrowse link
G RBM28 RNA binding motif protein 28 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 7:120,211,198...120,335,079
Ensembl chr 7:132,955,078...132,988,576
JBrowse link
G RET ret proto-oncogene ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 PMID:30217742 PMID:32164334 NCBI chr10:40,050,396...40,103,629
Ensembl chr10:43,249,468...43,284,331
JBrowse link
G RFX6 regulatory factor X6 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:24824130 NCBI chr 6:114,686,132...114,741,072
Ensembl chr 6:118,828,973...118,883,884
JBrowse link
G RFX7 regulatory factor X7 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr15:35,057,195...35,211,897
Ensembl chr15:53,376,869...53,527,541
JBrowse link
G RNF17 ring finger protein 17 ISO ClinVar Annotator: match by term: Primary Microcephaly, Recessive ClinVar PMID:25741868 NCBI chr13:6,056,496...6,172,231
Ensembl chr13:24,346,898...24,460,945
JBrowse link
G ROS1 ROS proto-oncogene 1, receptor tyrosine kinase ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:24824130 NCBI chr 6:115,095,753...115,234,525
Ensembl chr 6:119,238,419...119,376,053
JBrowse link
G RPGRIP1 RPGR interacting protein 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr14:2,105,703...2,169,362
Ensembl chr14:20,185,236...20,247,064
JBrowse link
G RPGRIP1L RPGRIP1 like ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr16:33,836,361...33,939,265
Ensembl chr16:52,920,796...53,023,174
JBrowse link
G RREB1 ras responsive element binding protein 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:6,945,205...7,089,757
Ensembl chr 6:7,257,875...7,356,544
JBrowse link
G RSPH4A radial spoke head component 4A ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:24824130 NCBI chr 6:114,423,322...114,441,199
Ensembl chr 6:118,568,907...118,585,812
JBrowse link
G RTEL1 regulator of telomere elongation helicase 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 Ensembl chr20:61,581,331...61,618,718 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 chr18:63,381,953...63,584,937
Ensembl chr18:66,674,597...66,874,104
JBrowse link
G RWDD1 RWD domain containing 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:24824130 NCBI chr 6:114,379,178...114,401,570
Ensembl chr 6:118,524,052...118,546,373
JBrowse link
G SALL1 spalt like transcription factor 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr16:31,396,399...31,412,753
Ensembl chr16:50,274,090...50,284,819
JBrowse link
G SAMD9L sterile alpha motif domain containing 9 like ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:85,086,661...85,104,983 JBrowse link
G SBF1 SET binding factor 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:23749797 PMID:25741868 PMID:28492532 NCBI chr22:30,691,976...30,723,128
Ensembl chr22:49,676,467...49,704,633
JBrowse link
G SCAMP4 secretory carrier membrane protein 4 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr19:914,220...925,244
Ensembl chr19:1,893,577...1,904,452
JBrowse link
G SCARF2 scavenger receptor class F member 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868
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 chr2B:53,258,614...53,348,131
Ensembl chr2B:170,736,651...170,822,014
JBrowse link
G SCN4A sodium voltage-gated channel alpha subunit 4 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr17:58,034,146...58,066,644
Ensembl chr17:63,128,550...63,161,043
JBrowse link
G SCN9A sodium voltage-gated channel alpha subunit 9 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr2B:53,468,290...53,643,747
Ensembl chr2B:170,944,974...171,054,013
JBrowse link
G SCRIB scribble planar cell polarity protein ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 8:140,544,797...140,571,078
Ensembl chr 8:143,557,722...143,582,353
JBrowse link
G SEC24C SEC24 homolog C, COPII coat complex component ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr10:70,267,194...70,295,116
Ensembl chr10:72,943,116...72,968,027
JBrowse link
G SETD5 SET domain containing 5 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:9,350,026...9,430,760
Ensembl chr 3:9,592,517...9,672,306
JBrowse link
G SIM1 SIM bHLH transcription factor 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 6:98,221,476...98,301,215
Ensembl chr 6:102,104,783...102,181,062
JBrowse link
G SIN3A SIN3 transcription regulator family member A ISO CTD Direct Evidence: marker/mechanism CTD PMID:27399968 NCBI chr15:54,285,587...54,371,376
Ensembl chr15:73,881,500...73,966,506
JBrowse link
G SLC12A5 solute carrier family 12 member 5 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr20:42,359,005...42,397,412
Ensembl chr20:43,445,182...43,483,132
JBrowse link
G SLC13A5 solute carrier family 13 member 5 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr17:6,721,620...6,751,840
Ensembl chr17:6,709,647...6,738,683
JBrowse link
G SLC1A4 solute carrier family 1 member 4 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr2A:65,051,025...65,086,917
Ensembl chr2A:66,176,925...66,209,615
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 chr17:69,220,073...69,237,067
Ensembl chr17:74,773,341...74,789,699
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 chr 1:42,224,273...42,257,184
Ensembl chr 1:43,600,733...43,634,143
JBrowse link
G SLC35F1 solute carrier family 35 member F1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:24824130 NCBI chr 6:115,718,178...116,127,742
Ensembl chr 6:120,108,341...120,268,465
JBrowse link
G SLX4 SLX4 structure-specific endonuclease subunit ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr16:2,502,334...2,532,172
Ensembl chr16:3,678,018...3,707,842
JBrowse link
G SMARCA2 SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 9:1,818,004...1,997,652
Ensembl chr 9:2,013,237...2,189,409
JBrowse link
G SMARCA4 SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr19:10,515,216...10,616,155
Ensembl chr19:11,250,006...11,334,952
JBrowse link
G SMARCAL1 SNF2 related chromatin remodeling annealing helicase 1 ISO ClinVar Annotator: match by term: Congenital microcephaly ClinVar PMID:11799392 PMID:15880370 PMID:16840568 PMID:17089404 PMID:18805831 More... NCBI chr2B:103,672,934...103,743,802
Ensembl chr2B:222,276,353...222,347,258
JBrowse link
G SMC1A structural maintenance of chromosomes 1A ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:17273969 PMID:19701948 PMID:24124034 PMID:25125236 PMID:25741868 More... NCBI chr  X:45,576,100...45,637,314
Ensembl chr  X:53,697,154...53,745,636
JBrowse link
G SMO smoothened, frizzled class receptor ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 7:121,143,968...121,168,873
Ensembl chr 7:133,668,304...133,693,048
JBrowse link
G SNAP25 synaptosome associated protein 25 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:33299146 NCBI chr20:10,164,236...10,252,856
Ensembl chr20:10,218,358...10,252,841
JBrowse link
G SPOCK1 SPARC (osteonectin), cwcv and kazal like domains proteoglycan 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 5:132,372,283...132,890,168
Ensembl chr 5:138,512,523...138,797,416
JBrowse link
G SPTAN1 spectrin alpha, non-erythrocytic 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:99,674,819...99,755,973
Ensembl chr 9:128,341,739...128,422,971
JBrowse link
G SPTLC1 serine palmitoyltransferase long chain base subunit 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 9:63,087,798...63,174,977 JBrowse link
G SRCAP Snf2 related CREBBP activator protein ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr16:24,229,869...24,271,427
Ensembl chr16:31,065,964...31,106,312
JBrowse link
G STAMBP STAM binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:23542699 NCBI chr2A:73,900,128...73,936,571
Ensembl chr2A:75,410,434...75,451,086
JBrowse link
G STIL STIL centriolar assembly protein ISO ClinVar Annotator: match by term: Primary Microcephaly, Recessive ClinVar NCBI chr 1:46,551,592...46,639,668
Ensembl chr 1:48,072,728...48,137,071
JBrowse link
G STT3A STT3 oligosaccharyltransferase complex catalytic subunit A ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr11:120,412,488...120,440,713
Ensembl chr11:124,325,762...124,353,596
JBrowse link
G STXBP1 syntaxin binding protein 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 9:98,731,527...98,811,608
Ensembl chr 9:127,434,080...127,486,152
JBrowse link
G SVBP small vasohibin binding protein ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:30607023 PMID:31363758 NCBI chr 1:42,105,405...42,115,721
Ensembl chr 1:43,482,870...43,492,577
JBrowse link
G TAF2 TATA-box binding protein associated factor 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 8:116,421,520...116,523,138
Ensembl chr 8:119,170,327...119,271,405
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 chr 6:41,631,483...41,672,988
Ensembl chr 6:42,933,107...42,978,271
JBrowse link
G TAT tyrosine aminotransferase ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr16:53,434,028...53,443,624
Ensembl chr16:71,404,399...71,413,886
JBrowse link
G TBC1D32 TBC1 domain family member 32 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 6:118,884,928...119,139,138
Ensembl chr 6:123,022,008...123,273,810
JBrowse link
G TBCD tubulin folding cofactor D ISO CTD Direct Evidence: marker/mechanism CTD PMID:27666370 PMID:27666374 NCBI chr17:77,170,966...77,371,078
Ensembl chr17:82,971,613...83,158,223
JBrowse link
G TBCE tubulin folding cofactor E ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:210,881,078...211,008,686
Ensembl chr 1:215,929,658...216,020,613
JBrowse link
G TBL2 transducin beta like 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 Ensembl chr 7:80,721,616...80,730,685 JBrowse link
G TBX2 T-box transcription factor 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr17:55,501,932...55,511,537
Ensembl chr17:60,622,098...60,630,189
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 chr18:48,603,069...48,969,010
Ensembl chr18:51,938,357...52,352,030
JBrowse link
G TCOF1 treacle ribosome biogenesis factor 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:145,781,915...145,824,312
Ensembl chr 5:151,786,944...151,825,549
JBrowse link
G TCTN2 tectonic family member 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr12:121,256,675...121,293,997
Ensembl chr12:125,482,294...125,518,903
JBrowse link
G TECPR2 tectonin beta-propeller repeat containing 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr14:82,984,313...83,120,853
Ensembl chr14:102,814,542...102,932,587
JBrowse link
G TELO2 telomere maintenance 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr16:112,856...130,175
Ensembl chr16:1,548,212...1,566,337
JBrowse link
G TERT telomerase reverse transcriptase ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 Ensembl chr 5:1,300,960...1,338,872 JBrowse link
G TFAP2C transcription factor AP-2 gamma ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr20:52,966,907...52,981,024
Ensembl chr20:54,255,489...54,265,432
JBrowse link
G TMEM67 transmembrane protein 67 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 8:90,378,623...90,442,904
Ensembl chr 8:92,324,402...92,387,437
JBrowse link
G TNNT3 troponin T3, fast skeletal type ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr11:1,936,614...1,955,784
Ensembl chr11:1,968,184...1,987,849
JBrowse link
G TRAIP TRAF interacting protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:26595769 NCBI chr 3:49,760,528...49,789,637
Ensembl chr 3:50,996,647...51,025,241
JBrowse link
G TRAPPC3L trafficking protein particle complex subunit 3L ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:24824130 NCBI chr 6:114,303,027...114,355,958
Ensembl chr 6:118,449,441...118,498,836
JBrowse link
G TRIO trio Rho guanine nucleotide exchange factor ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:32581362 NCBI chr 5:14,448,259...14,814,875
Ensembl chr 5:14,423,780...14,654,124
JBrowse link
G TRPS1 transcriptional repressor GATA binding 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 8:112,079,147...112,339,567 JBrowse link
G TSEN2 tRNA splicing endonuclease subunit 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18711368 NCBI chr 3:12,410,885...12,463,932
Ensembl chr 3:12,759,375...12,800,201
JBrowse link
G TSEN34 tRNA splicing endonuclease subunit 34 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18711368 NCBI chr19:51,121,560...51,125,768
Ensembl chr19:59,964,174...59,968,453
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 chr17:69,465,488...69,474,667
Ensembl chr17:75,017,351...75,025,166
JBrowse link
G TTI2 TELO2 interacting protein 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 8:32,813,830...32,828,134
Ensembl chr 8:30,000,487...30,014,742
JBrowse link
G TUBA8 tubulin alpha 8 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 PMID:31481326 NCBI chr22:1,541,154...1,561,852
Ensembl chr22:16,936,405...16,989,730
JBrowse link
G TUBB tubulin beta class I ISO OMIM:251200 | OMIM:604321 | OMIM:604804 | OMIM:608393 | OMIM:608716 | OMIM:612703 MouseDO NCBI chr 6:30,465,367...30,470,451 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 chr19:5,521,425...5,529,958
Ensembl chr19:6,441,323...6,451,785
JBrowse link
G TUBG1 tubulin gamma 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23603762 NCBI chr17:14,701,795...14,707,404
Ensembl chr17:14,925,451...14,931,340
JBrowse link
G TUBGCP5 tubulin gamma complex component 5 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 Ensembl chr15:20,403,757...20,444,851 JBrowse link
G TUBGCP6 tubulin gamma complex component 6 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr22:30,446,242...30,473,635
Ensembl chr22:49,446,405...49,472,463
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 chr15:21,899,611...22,064,606
Ensembl chr15:40,060,111...40,221,725
JBrowse link
G UFSP2 UFM1 specific peptidase 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 PMID:33473208 NCBI chr 4:177,562,642...177,589,312
Ensembl chr 4:189,779,242...189,805,572
JBrowse link
G UNC80 unc-80 homolog, NALCN channel complex subunit ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr2B:97,029,102...97,257,181
Ensembl chr2B:215,434,343...215,660,423
JBrowse link
G VARS1 valyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:30275004 NCBI chr 6:31,438,663...31,456,926
Ensembl chr 6:32,325,931...32,343,276
JBrowse link
G VGLL2 vestigial like family member 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:24824130 NCBI chr 6:115,073,919...115,082,212
Ensembl chr 6:119,215,683...119,223,541
JBrowse link
G VLDLR very low density lipoprotein receptor ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 9:2,428,639...2,463,796
Ensembl chr 9:2,621,199...2,653,980
JBrowse link
G VPS13B vacuolar protein sorting 13 homolog B ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:95,659,443...96,525,316
Ensembl chr 8:97,860,720...98,698,271
JBrowse link
G VPS33B VPS33B late endosome and lysosome associated ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr15:69,691,717...69,715,617
Ensembl chr15:88,888,093...88,912,327
JBrowse link
G VPS53 VPS53 subunit of GARP complex ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr17:400,048...576,119
Ensembl chr17:414,782...604,705
JBrowse link
G WDFY3 WD repeat and FYVE domain containing 3 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 4:39,215,474...39,511,870
Ensembl chr 4:45,170,700...45,361,599
JBrowse link
G WDR11 WD repeat domain 11 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:34413497 NCBI chr10:117,430,788...117,488,778
Ensembl chr10:120,845,695...120,903,540
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 chr19:32,973,725...33,030,297
Ensembl chr19:41,721,281...41,777,038
JBrowse link
G WDR81 WD repeat domain 81 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:32581362 NCBI chr17:1,708,119...1,722,405
Ensembl chr17:1,594,162...1,616,138
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 chr 3:39,079,712...39,089,098 JBrowse link
G YME1L1 YME1 like 1 ATPase ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr10:27,220,951...27,263,841
Ensembl chr10:27,584,099...27,626,453
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 chr 7:67,661,589...67,693,814 JBrowse link
G ZC4H2 zinc finger C4H2-type containing ISO CTD Direct Evidence: marker/mechanism CTD PMID:26056227 NCBI chr  X:54,043,329...54,162,351
Ensembl chr  X:64,121,109...64,182,331
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 chr16:70,478,127...70,498,672
Ensembl chr16:90,147,474...90,165,192
JBrowse link
G ZNF668 zinc finger protein 668 ISO ClinVar Annotator: match by term: Progressive microcephaly ClinVar PMID:26633546 PMID:34313816 NCBI chr16:23,893,617...23,906,552
Ensembl chr16:31,425,412...31,442,494
JBrowse link
G ZUP1 zinc finger containing ubiquitin peptidase 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:24824130 NCBI chr 6:114,443,844...114,477,220
Ensembl chr 6:118,598,031...118,621,081
JBrowse link
3p deletion syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANKRD28 ankyrin repeat domain 28 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 3:15,591,890...15,785,997
Ensembl chr 3:15,932,020...16,057,647
JBrowse link
G BTD biotinidase ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 3:15,526,339...15,575,475
Ensembl chr 3:15,863,489...15,907,497
JBrowse link
G C2H3orf20 chromosome 2 C3orf20 homolog ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 3:14,600,078...14,695,130
Ensembl chr 3:14,936,746...15,034,701
JBrowse link
G CAPN7 calpain 7 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 3:15,131,774...15,177,836
Ensembl chr 3:15,468,890...15,515,528
JBrowse link
G CCDC174 coiled-coil domain containing 174 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 3:14,574,082...14,595,025
Ensembl chr 3:14,913,328...14,934,261
JBrowse link
G CHCHD4 coiled-coil-helix-coiled-coil-helix domain containing 4 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 3:14,030,410...14,043,233
Ensembl chr 3:14,370,854...14,383,660
JBrowse link
G COLQ collagen like tail subunit of asymmetric acetylcholinesterase ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 3:15,373,589...15,447,613
Ensembl chr 3:15,712,630...15,784,299
JBrowse link
G DAZL deleted in azoospermia like ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 3:16,514,327...16,625,601
Ensembl chr 3:16,851,158...16,862,963
JBrowse link
G DPH3 diphthamide biosynthesis 3 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 3:16,183,158...16,190,184
Ensembl chr 3:16,520,076...16,527,196
JBrowse link
G EAF1 ELL associated factor 1 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 3:15,353,459...15,368,579
Ensembl chr 3:15,689,745...15,705,300
JBrowse link
G EFHB EF-hand domain family member B ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 3:19,798,204...19,855,338
Ensembl chr 3:20,128,668...20,184,718
JBrowse link
G FBLN2 fibulin 2 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 3:13,469,679...13,558,241
Ensembl chr 3:13,812,462...13,900,332
JBrowse link
G FGD5 FYVE, RhoGEF and PH domain containing 5 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 3:14,732,712...14,856,251
Ensembl chr 3:15,072,214...15,195,608
JBrowse link
G GALNT15 polypeptide N-acetylgalactosaminyltransferase 15 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 3:16,099,794...16,152,941
Ensembl chr 3:16,436,838...16,494,038
JBrowse link
G GRIP2 glutamate receptor interacting protein 2 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 3:14,411,825...14,525,388
Ensembl chr 3:14,756,638...14,804,952
JBrowse link
G HACL1 2-hydroxyacyl-CoA lyase 1 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 3:15,486,897...15,526,552
Ensembl chr 3:15,823,979...15,863,982
JBrowse link
G HDAC11 histone deacetylase 11 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 3:13,400,788...13,427,010
Ensembl chr 3:13,744,475...13,769,997
JBrowse link
G KAT2B lysine acetyltransferase 2B ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 3:19,956,067...20,070,637
Ensembl chr 3:20,286,865...20,400,770
JBrowse link
G KCNH8 potassium voltage-gated channel subfamily H member 8 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 3:19,063,663...19,461,752
Ensembl chr 3:19,498,421...19,787,890
JBrowse link
G LSM3 LSM3 homolog, U6 small nuclear RNA and mRNA degradation associated ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 3:14,097,035...14,165,942
Ensembl chr 3:14,437,497...14,456,726
JBrowse link
G METTL6 methyltransferase 6, tRNA N3-cytidine ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 3:15,306,890...15,353,505
Ensembl chr 3:15,643,545...15,690,238
JBrowse link
G MRPS25 mitochondrial ribosomal protein S25 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 3:14,934,006...14,989,899
Ensembl chr 3:15,313,061...15,328,594
JBrowse link
G NR2C2 nuclear receptor subfamily 2 group C member 2 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 3:14,869,292...14,973,977
Ensembl chr 3:15,220,110...15,306,242
JBrowse link
G NUP210 nucleoporin 210 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 3:13,236,064...13,339,807
Ensembl chr 3:13,581,763...13,664,011
JBrowse link
G OXNAD1 oxidoreductase NAD binding domain containing 1 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 3:16,190,264...16,277,168
Ensembl chr 3:16,527,259...16,584,621
JBrowse link
G PLCL2 phospholipase C like 2 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 3:16,736,430...17,015,531
Ensembl chr 3:17,154,500...17,351,287
JBrowse link
G PP2D1 protein phosphatase 2C like domain containing 1 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 3:19,903,905...19,930,536
Ensembl chr 3:20,233,831...20,261,322
JBrowse link
G RAB5A RAB5A, member RAS oncogene family ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 3:19,866,110...19,903,701
Ensembl chr 3:20,197,067...20,234,579
JBrowse link
G RBSN rabenosyn, RAB effector ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 3:14,994,647...15,023,733
Ensembl chr 3:15,333,359...15,362,361
JBrowse link
G RFTN1 raftlin, lipid raft linker 1 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 3:16,241,255...16,441,402
Ensembl chr 3:16,578,092...16,778,464
JBrowse link
G SATB1 SATB homeobox 1 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 3:18,267,819...18,368,924
Ensembl chr 3:18,602,204...18,681,211
JBrowse link
G SETD5 SET domain containing 5 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:21681106 NCBI chr 3:9,350,026...9,430,760
Ensembl chr 3:9,592,517...9,672,306
JBrowse link
G SH3BP5 SH3 domain binding protein 5 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 3:15,180,369...15,257,951
Ensembl chr 3:15,517,447...15,594,971
JBrowse link
G SLC6A6 solute carrier family 6 member 6 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 3:14,323,251...14,411,949
Ensembl chr 3:14,663,955...14,752,326
JBrowse link
G TBC1D5 TBC1 domain family member 5 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 3:17,080,589...17,664,776
Ensembl chr 3:17,416,307...17,768,132
JBrowse link
G THUMPD3 THUMP domain 3 tRNA guanosine methyltransferase ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:21681106 NCBI chr 3:9,315,275...9,338,096
Ensembl chr 3:9,557,894...9,581,157
JBrowse link
G TMEM43 transmembrane protein 43 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 3:14,043,369...14,062,064
Ensembl chr 3:14,383,983...14,400,587
JBrowse link
G WNT7A Wnt family member 7A ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 3:13,733,487...13,797,189
Ensembl chr 3:14,077,839...14,138,386
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 chr 3:14,063,499...14,097,023
Ensembl chr 3:14,403,958...14,437,377
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 | ClinVar Annotator: match by term: DCPS-related condition OMIM
ClinVar
PMID:25701870 PMID:25712129 PMID:25741868 PMID:28492532 PMID:30289615 NCBI chr11:121,119,720...121,159,513
Ensembl chr11:125,028,616...125,068,807
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: SLC25A19-related condition | 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 chr17:69,220,073...69,237,067
Ensembl chr17:74,773,341...74,789,699
JBrowse link
Arboleda-Tham syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KAT6A lysine acetyltransferase 6A ISO ClinVar Annotator: match by term: Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome | ClinVar Annotator: match by term: KAT6A syndrome | ClinVar Annotator: match by term: KAT6A-related condition | ClinVar Annotator: match by term: KAT6A-related neurodevelopmental disorder with multiple anomalies OMIM
ClinVar
PMID:17374998 PMID:23431171 PMID:25728775 PMID:25728777 PMID:25741868 More... NCBI chr 8:41,173,833...41,296,547
Ensembl chr 8:38,625,156...38,741,538
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 chr 7:89,811,363...89,831,733
Ensembl chr 7:103,392,540...103,413,046
JBrowse link
G CTLA4 cytotoxic T-lymphocyte associated protein 4 ISO ClinVar Annotator: match by term: Asparagine synthetase deficiency ClinVar PMID:25741868 PMID:28492532 NCBI chr2B:91,054,917...91,106,234
Ensembl chr2B:209,239,417...209,244,498
JBrowse link
autosomal dominant primary 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: Microcephaly 26, primary, autosomal dominant OMIM
ClinVar
PMID:25741868 PMID:32910914 PMID:33033404 NCBI chr 5:122,179,513...122,240,848
Ensembl chr 5:127,949,457...128,010,721
JBrowse link
autosomal dominant primary 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 chr19:1,440,462...1,469,601
Ensembl chr19:2,406,296...2,430,568
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 chr11:14,560,239...14,602,557
Ensembl chr11:14,251,699...14,293,850
JBrowse link
Basel-Vanagaite-Smirin-Yosef syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MED25 mediator complex subunit 25 ISO ClinVar Annotator: match by term: Basel-Vanagaite-Smirin-Yosef syndrome OMIM
ClinVar
PMID:25488817 PMID:25527630 PMID:25741868 PMID:25792360 PMID:28170084 More... NCBI chr19:46,831,190...46,853,367
Ensembl chr19:55,747,722...55,765,942
JBrowse link
Beaulieu-Boycott-Innes Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FBN1 fibrillin 1 ISO ClinVar Annotator: match by term: THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome ClinVar PMID:15241795 PMID:16571647 PMID:16905551 PMID:17701892 PMID:18435798 More... NCBI chr15:27,358,780...27,593,539
Ensembl chr15:45,682,450...45,918,111
JBrowse link
G THOC6 THO complex subunit 6 ISO ClinVar Annotator: match by term: THOC6-related condition | ClinVar Annotator: match by term: THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome OMIM
ClinVar
PMID:16199547 PMID:18414213 PMID:23621916 PMID:25741868 PMID:26739162 More... NCBI chr16:1,965,875...1,969,595
Ensembl chr16:3,138,229...3,141,876
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 chr15:46,148,937...46,207,186
Ensembl chr15:64,419,994...64,477,586
JBrowse link
G ABHD17C abhydrolase domain containing 17C, depalmitoylase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:59,676,295...59,736,771 JBrowse link
G ABHD2 abhydrolase domain containing 2, acylglycerol lipase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:17407155 PMID:28492532 NCBI chr15:67,780,453...67,891,454
Ensembl chr15:86,987,070...87,095,818
JBrowse link
G ACAN aggrecan ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:17407155 PMID:28492532 NCBI chr15:67,492,494...67,563,265
Ensembl chr15:86,733,853...86,771,420
JBrowse link
G ACSBG1 acyl-CoA synthetase bubblegum family member 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:57,098,752...57,164,119
Ensembl chr15:76,064,937...76,128,835
JBrowse link
G ADAM10 ADAM metallopeptidase domain 10 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:37,562,930...37,717,175
Ensembl chr15:55,873,606...56,027,188
JBrowse link
G ADAMTS7 ADAM metallopeptidase with thrombospondin type 1 motif 7 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:61,291,451...61,295,148 JBrowse link
G ADAMTSL3 ADAMTS like 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:61,567,731...61,953,255
Ensembl chr15:81,538,868...81,920,292
JBrowse link
G ADPGK ADP dependent glucokinase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:51,669,462...51,702,439
Ensembl chr15:70,429,956...70,462,444
JBrowse link
G AEN apoptosis enhancing nuclease ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:67,237,871...67,321,808
Ensembl chr15:86,518,204...86,529,579
JBrowse link
G AFG2B AFG2 AAA ATPase homolog B ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:24,350,226...24,369,308
Ensembl chr15:42,681,127...42,699,801
JBrowse link
G AGBL1 AGBL carboxypeptidase 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:64,774,408...65,603,628
Ensembl chr15:84,048,348...84,938,150
JBrowse link
G AKAP13 A-kinase anchoring protein 13 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:64,076,422...64,438,109
Ensembl chr15:83,387,667...83,651,362
JBrowse link
G ALDH1A2 aldehyde dehydrogenase 1 family member A2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:36,925,443...37,038,288
Ensembl chr15:55,237,101...55,557,168
JBrowse link
G ALPK3 alpha kinase 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:63,484,027...63,541,021 JBrowse link
G ANKDD1A ankyrin repeat and death domain containing 1A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:43,851,575...43,898,578
Ensembl chr15:62,137,207...62,181,984
JBrowse link
G ANKRD34C ankyrin repeat domain 34C ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:58,246,752...58,267,478
Ensembl chr15:77,220,348...77,221,955
JBrowse link
G ANKRD63 ankyrin repeat domain 63 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:19,212,457...19,217,434 JBrowse link
G ANP32A acidic nuclear phosphoprotein 32 family member A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:47,736,770...47,778,763
Ensembl chr15:66,502,285...66,511,637
JBrowse link
G ANPEP alanyl aminopeptidase, membrane ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:17407155 PMID:28492532 NCBI chr15:68,479,349...68,509,238
Ensembl chr15:87,681,826...87,703,713
JBrowse link
G ANXA2 annexin A2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:39,322,303...39,371,565
Ensembl chr15:57,625,425...57,674,250
JBrowse link
G AP3B2 adaptor related protein complex 3 subunit beta 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:62,888,359...62,938,758
Ensembl chr15:80,557,967...80,607,475
JBrowse link
G AP3S2 adaptor related protein complex 3 subunit sigma 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:17407155 PMID:28492532 NCBI chr15:68,524,982...68,583,917 JBrowse link
G AP4E1 adaptor related protein complex 4 subunit epsilon 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:29,857,818...29,957,158
Ensembl chr15:48,195,581...48,288,895
JBrowse link
G APH1B aph-1 homolog B, gamma-secretase subunit ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:42,224,593...42,256,202
Ensembl chr15:60,520,031...60,551,599
JBrowse link
G AQP9 aquaporin 9 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:37,107,061...37,154,887
Ensembl chr15:55,418,767...55,466,541
JBrowse link
G AQR aquarius intron-binding spliceosomal factor ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:13,774,234...13,891,046
Ensembl chr15:32,036,653...32,149,157
JBrowse link
G ARID3B AT-rich interaction domain 3B ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:53,482,870...53,542,063
Ensembl chr15:73,104,984...73,159,422
JBrowse link
G ARIH1 ariadne RBR E3 ubiquitin protein ligase 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:51,423,132...51,534,278
Ensembl chr15:70,187,722...70,297,226
JBrowse link
G ARNT2 aryl hydrocarbon receptor nuclear translocator 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:59,376,993...59,573,925 JBrowse link
G ARPIN actin related protein 2/3 complex inhibitor ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:17407155 PMID:28492532
G ARPP19 cAMP regulated phosphoprotein 19 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:31,488,156...31,510,404
Ensembl chr15:49,813,447...49,835,051
JBrowse link
G ATOSA atos homolog A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:31,522,297...31,620,560
Ensembl chr15:49,848,026...49,944,808
JBrowse link
G ATP8B4 ATPase phospholipid transporting 8B4 (putative) ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:28,803,848...29,060,526
Ensembl chr15:47,129,277...47,389,559
JBrowse link
G AVEN apoptosis and caspase activation inhibitor ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:12,379,221...12,574,147 JBrowse link
G B2M beta-2-microglobulin ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:23,668,108...23,674,791
Ensembl chr15:41,836,345...41,842,991
JBrowse link
G BAHD1 bromo adjacent homology domain containing 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:19,376,233...19,404,699
Ensembl chr15:37,630,476...37,657,918
JBrowse link
G BBS4 Bardet-Biedl syndrome 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:51,601,526...51,656,460
Ensembl chr15:70,362,261...70,416,964
JBrowse link
G BCL2A1 BCL2 related protein A1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:58,925,853...58,935,122
Ensembl chr15:77,882,940...77,893,628
JBrowse link
G BCL2L10 BCL2 like 10 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:31,049,509...31,057,273
Ensembl chr15:49,376,576...49,380,109
JBrowse link
G BLM BLM RecQ like helicase ISO ClinVar Annotator: match by term: BLM-related condition | 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 chr15:69,407,248...69,508,070
Ensembl chr15:88,607,157...88,707,864
JBrowse link
G BLOC1S6 biogenesis of lysosomal organelles complex 1 subunit 6 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:24,469,225...24,553,163
Ensembl chr15:42,862,112...42,882,316
JBrowse link
G BMF Bcl2 modifying factor ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:19,026,053...19,047,008
Ensembl chr15:37,281,655...37,302,075
JBrowse link
G BNC1 basonuclin zinc finger protein 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:62,316,229...62,345,123
Ensembl chr15:81,146,417...81,174,007
JBrowse link
G BNIP2 BCL2 interacting protein 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:38,628,798...38,659,161
Ensembl chr15:56,933,697...56,964,044
JBrowse link
G BTBD1 BTB domain containing 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:62,535,893...62,589,656
Ensembl chr15:80,904,436...80,957,494
JBrowse link
G BUB1B BUB1 mitotic checkpoint serine/threonine kinase B ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:19,095,383...19,155,557
Ensembl chr15:37,350,826...37,410,648
JBrowse link
G C16H15orf39 chromosome 16 C15orf39 homolog ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:54,142,547...54,152,833
Ensembl chr15:73,753,921...73,767,224
JBrowse link
G C16H15orf40 chromosome 16 C15orf40 homolog ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:62,594,213...62,601,425
Ensembl chr15:80,879,368...80,899,648
JBrowse link
G C16H15orf48 chromosome 16 C15orf48 homolog ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:24,378,440...24,381,280
Ensembl chr15:42,709,122...42,727,209
JBrowse link
G C16H15orf61 chromosome 16 C15orf61 homolog ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:46,471,604...46,477,100
Ensembl chr15:64,740,039...64,746,144
JBrowse link
G C16H15orf62 chromosome 16 C15orf62 homolog ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:19,709,049...19,713,564
Ensembl chr15:37,963,669...37,964,196
JBrowse link
G C2CD4A C2 calcium dependent domain containing 4A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:41,020,652...41,031,100 JBrowse link
G C2CD4B C2 calcium dependent domain containing 4B ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:41,113,568...41,125,725 JBrowse link
G CA12 carbonic anhydrase 12 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:42,270,188...42,328,952
Ensembl chr15:60,565,592...60,624,008
JBrowse link
G CALML4 calmodulin like 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:47,140,272...47,155,700
Ensembl chr15:65,409,732...65,424,852
JBrowse link
G CATSPER2 cation channel sperm associated 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 Ensembl chr15:40,769,539...40,795,723 JBrowse link
G CCDC32 coiled-coil domain containing 32 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:19,466,344...19,510,553
Ensembl chr15:37,726,474...37,763,602
JBrowse link
G CCDC33 coiled-coil domain containing 33 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:53,158,057...53,278,500
Ensembl chr15:72,800,067...72,899,576
Ensembl chr15:72,800,067...72,899,576
JBrowse link
G CCDC9B coiled-coil domain containing 9B ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:19,265,502...19,275,023
Ensembl chr15:37,520,475...37,529,968
JBrowse link
G CCNB2 cyclin B2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:38,075,106...38,095,699
Ensembl chr15:56,382,391...56,402,299
JBrowse link
G CCNDBP1 cyclin D1 binding protein 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:22,146,561...22,156,570
Ensembl chr15:40,301,401...40,311,443
JBrowse link
G CCPG1 cell cycle progression 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:34,324,670...34,382,141
Ensembl chr15:52,647,392...52,701,880
JBrowse link
G CD276 CD276 molecule ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:52,594,719...52,625,047 JBrowse link
G CDAN1 codanin 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:21,684,234...21,697,840
Ensembl chr15:39,838,604...39,851,562
JBrowse link
G CDIN1 CDAN1 interacting nuclease 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:15,503,685...15,734,015
Ensembl chr15:33,762,079...33,990,777
JBrowse link
G CEMIP cell migration inducing hyaluronidase 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:59,760,481...59,932,698
Ensembl chr15:78,810,600...78,888,723
JBrowse link
G CEP152 centrosomal protein 152 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:27,665,278...27,760,808
Ensembl chr15:46,011,447...46,084,233
JBrowse link
G CFAP161 cilia and flagella associated protein 161 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:60,113,489...60,134,987
Ensembl chr15:79,075,432...79,090,283
JBrowse link
G CGNL1 cingulin like 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:36,344,222...36,518,235
Ensembl chr15:54,669,190...54,831,595
JBrowse link
G CHAC1 ChaC glutathione specific gamma-glutamylcyclotransferase 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:19,895,554...19,898,672
Ensembl chr15:38,145,730...38,148,698
JBrowse link
G CHP1 calcineurin like EF-hand protein 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:20,172,874...20,223,382
Ensembl chr15:38,418,815...38,467,681
JBrowse link
G CHRM5 cholinergic receptor muscarinic 5 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:12,478,656...12,575,512
Ensembl chr15:31,406,198...31,407,796
JBrowse link
G CHRNA3 cholinergic receptor nicotinic alpha 3 subunit ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:57,523,553...57,550,228
Ensembl chr15:76,487,710...76,512,044
JBrowse link
G CHRNA5 cholinergic receptor nicotinic alpha 5 subunit ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:57,493,730...57,530,463
Ensembl chr15:76,455,165...76,486,376
JBrowse link
G CHRNB4 cholinergic receptor nicotinic beta 4 subunit ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:57,552,697...57,570,828
Ensembl chr15:76,515,455...76,532,712
JBrowse link
G CHST14 carbohydrate sulfotransferase 14 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:19,407,477...19,409,645
Ensembl chr15:37,660,621...37,661,622
JBrowse link
G CIAO2A cytosolic iron-sulfur assembly component 2A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:43,025,577...43,047,013
Ensembl chr15:61,317,188...61,338,337
JBrowse link
G CIB1 calcium and integrin binding 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:17407155 PMID:28492532 NCBI chr15:68,919,377...68,923,213 JBrowse link
G CIB2 calcium and integrin binding family member 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:57,033,782...57,060,650
Ensembl chr15:75,998,797...76,025,485
JBrowse link
G CILP cartilage intermediate layer protein ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:44,142,312...44,159,395
Ensembl chr15:62,425,780...62,441,214
JBrowse link
G CIMAP1C ciliary microtubule associated protein 1C ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:54,630,808...54,636,066
Ensembl chr15:74,225,859...74,229,571
JBrowse link
G CLK3 CDC like kinase 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:53,550,793...53,576,744
Ensembl chr15:73,181,664...73,196,148
JBrowse link
G CLN6 CLN6 transmembrane ER protein ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:47,156,583...47,215,805
Ensembl chr15:65,425,472...65,985,242
JBrowse link
G CLPX caseinolytic mitochondrial matrix peptidase chaperone subunit X ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:44,088,070...44,128,730
Ensembl chr15:62,374,068...62,412,746
JBrowse link
G COMMD4 COMM domain containing 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:54,252,289...54,256,637
Ensembl chr15:73,848,231...73,852,531
JBrowse link
G COPS2 COP9 signalosome subunit 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:28,073,237...28,103,615
Ensembl chr15:46,396,077...46,426,396
JBrowse link
G CORO2B coronin 2B ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:47,536,641...47,685,357
Ensembl chr15:66,370,374...66,452,545
JBrowse link
G CPEB1 cytoplasmic polyadenylation element binding protein 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:62,949,264...63,053,994
Ensembl chr15:80,443,096...80,526,948
JBrowse link
G CPLX3 complexin 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:53,769,138...53,774,330
Ensembl chr15:73,386,826...73,391,991
JBrowse link
G CRABP1 cellular retinoic acid binding protein 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:57,269,794...57,277,697
Ensembl chr15:76,234,401...76,242,311
JBrowse link
G CRTC3 CREB regulated transcription coactivator 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:17407155 PMID:28492532 NCBI chr15:69,217,679...69,333,897
Ensembl chr15:88,427,468...88,533,593
JBrowse link
G CSK C-terminal Src kinase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:53,724,814...53,745,710
Ensembl chr15:73,342,703...73,363,476
JBrowse link
G CSNK1G1 casein kinase 1 gamma 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:43,117,845...43,302,134
Ensembl chr15:61,410,414...61,594,180
JBrowse link
G CSPG4 chondroitin sulfate proteoglycan 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:54,583,010...54,621,240
Ensembl chr15:74,177,909...74,200,498
JBrowse link
G CTDSPL2 CTD small phosphatase like 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:23,384,416...23,483,508
Ensembl chr15:41,554,276...41,654,736
JBrowse link
G CTSH cathepsin H ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:57,893,379...57,917,194
Ensembl chr15:76,852,668...76,876,976
JBrowse link
G CTXN2 cortexin 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:27,127,250...27,152,785
Ensembl chr15:45,474,588...45,474,833
JBrowse link
G CYP11A1 cytochrome P450 family 11 subfamily A member 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:53,280,110...53,310,868
Ensembl chr15:72,901,286...72,931,164
JBrowse link
G CYP19A1 cytochrome P450 family 19 subfamily A member 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:30,152,924...30,282,854
Ensembl chr15:48,486,688...48,521,554
JBrowse link
G CYP1A1 cytochrome P450 family 1 subfamily A member 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:53,664,968...53,672,277
Ensembl chr15:73,284,566...73,290,636
JBrowse link
G CYP1A2 cytochrome P450 family 1 subfamily A member 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:53,692,877...53,699,279
Ensembl chr15:73,311,720...73,319,447
JBrowse link
G DAPK2 death associated protein kinase 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:42,860,484...42,999,489
Ensembl chr15:61,152,553...61,284,990
JBrowse link
G DENND4A DENN domain containing 4A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:44,600,897...44,734,150
Ensembl chr15:62,882,496...63,012,979
JBrowse link
G DET1 DET1 partner of COP1 E3 ubiquitin ligase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:67,203,101...67,238,185
Ensembl chr15:86,411,937...86,444,789
JBrowse link
G DIS3L DIS3 like exosome 3'-5' exoribonuclease ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:45,246,867...45,287,521
Ensembl chr15:63,523,512...63,563,813
JBrowse link
G DISP2 dispatched RND transporter family member 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:19,292,340...19,305,143
Ensembl chr15:37,548,049...37,559,623
JBrowse link
G DLL4 delta like canonical Notch ligand 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:19,871,584...19,881,817
Ensembl chr15:38,121,574...38,129,471
JBrowse link
G DMXL2 Dmx like 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:30,386,009...30,557,976
Ensembl chr15:48,719,150...48,890,708
JBrowse link
G DNAAF4 dynein axonemal assembly factor 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:34,382,064...34,469,432
Ensembl chr15:52,711,349...52,791,281
JBrowse link
G DNAJA4 DnaJ heat shock protein family (Hsp40) member A4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:57,193,545...57,211,518
Ensembl chr15:76,158,155...76,176,089
JBrowse link
G DNAJC17 DnaJ heat shock protein family (Hsp40) member C17 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:19,708,842...19,748,136
Ensembl chr15:37,960,965...37,999,674
JBrowse link
G DPH6 diphthamine biosynthesis 6 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:14,293,746...14,469,331
Ensembl chr15:32,554,276...32,729,455
JBrowse link
G DPP8 dipeptidyl peptidase 8 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:44,385,877...44,461,092
Ensembl chr15:62,666,088...62,740,504
JBrowse link
G DTWD1 DTW domain containing 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:28,578,698...28,602,840
Ensembl chr15:46,902,304...46,926,401
JBrowse link
G DUOX1 dual oxidase 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:24,077,557...24,113,206
Ensembl chr15:42,431,595...42,467,943
JBrowse link
G DUOX2 dual oxidase 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:24,040,513...24,061,758
Ensembl chr15:42,395,135...42,414,281
JBrowse link
G DUOXA1 dual oxidase maturation factor 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:24,064,967...24,077,641
Ensembl chr15:42,418,234...42,430,749
JBrowse link
G DUOXA2 dual oxidase maturation factor 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:24,061,922...24,066,016
Ensembl chr15:42,415,195...42,418,974
JBrowse link
G DUT deoxyuridine triphosphatase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:27,280,025...27,292,003
Ensembl chr15:45,603,807...45,616,022
JBrowse link
G EDC3 enhancer of mRNA decapping 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:53,577,101...53,642,504
Ensembl chr15:73,196,823...73,262,214
JBrowse link
G EFL1 elongation factor like GTPase 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:61,111,244...61,243,724 JBrowse link
G EHD4 EH domain containing 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:20,840,517...20,926,900
Ensembl chr15:39,010,302...39,086,713
JBrowse link
G EID1 EP300 interacting inhibitor of differentiation 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:27,827,790...27,829,493 JBrowse link
G EIF2AK4 eukaryotic translation initiation factor 2 alpha kinase 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:18,871,867...18,973,380
Ensembl chr15:37,120,044...37,229,211
JBrowse link
G EIF3J eukaryotic translation initiation factor 3 subunit J ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:23,493,363...23,518,705 JBrowse link
G ELL3 elongation factor for RNA polymerase II 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:22,732,742...22,737,522
Ensembl chr15:40,821,759...40,827,070
JBrowse link
G EMC4 ER membrane protein complex subunit 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:12,734,031...12,739,345
Ensembl chr15:31,568,622...31,573,547
JBrowse link
G EMC7 ER membrane protein complex subunit 7 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:12,593,498...12,611,409
Ensembl chr15:31,428,591...31,446,290
JBrowse link
G EPB42 erythrocyte membrane protein band 4.2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:22,157,831...22,183,254
Ensembl chr15:40,313,462...40,337,458
JBrowse link
G ETFA electron transfer flavoprotein subunit alpha ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:55,128,686...55,227,369
Ensembl chr15:74,720,198...74,818,494
JBrowse link
G EXD1 exonuclease 3'-5' domain containing 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:20,124,681...20,172,875
Ensembl chr15:38,373,481...38,418,179
JBrowse link
G FAH fumarylacetoacetate hydrolase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:59,121,657...59,155,229
Ensembl chr15:78,048,571...78,115,098
JBrowse link
G FAM219B family with sequence similarity 219 member B ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:53,840,510...53,847,389
Ensembl chr15:73,457,762...73,464,661
JBrowse link
G FAM227B family with sequence similarity 227 member B ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:28,454,626...28,578,566
Ensembl chr15:46,614,922...46,896,481
JBrowse link
G FAM81A family with sequence similarity 81 member A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:38,408,682...38,493,751
Ensembl chr15:56,716,721...56,799,249
JBrowse link
G FAM98B family with sequence similarity 98 member B ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:17,383,298...17,415,682 JBrowse link
G FANCI FA complementation group I ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:17407155 PMID:28492532 NCBI chr15:67,935,882...68,009,033
Ensembl chr15:87,142,871...87,215,271
JBrowse link
G FBN1 fibrillin 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:27,358,780...27,593,539
Ensembl chr15:45,682,450...45,918,111
JBrowse link
G FBXL22 F-box and leucine rich repeat protein 22 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:42,543,909...42,548,938
Ensembl chr15:60,837,032...60,841,829
JBrowse link
G FBXO22 F-box protein 22 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:54,817,076...54,849,271
Ensembl chr15:74,410,213...74,441,609
JBrowse link
G FEM1B fem-1 homolog B ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:47,236,920...47,254,878
Ensembl chr15:66,005,614...66,024,007
JBrowse link
G FES FES proto-oncogene, tyrosine kinase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:69,576,936...69,588,834
Ensembl chr15:88,774,965...88,786,965
JBrowse link
G FGF7 fibroblast growth factor 7 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:28,378,339...28,442,800
Ensembl chr15:46,702,119...46,770,163
JBrowse link
G FOXB1 forkhead box B1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:38,979,727...38,983,040
Ensembl chr15:57,284,077...57,285,054
JBrowse link
G FRMD5 FERM domain containing 5 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:22,830,850...23,161,693
Ensembl chr15:40,919,053...41,250,981
JBrowse link
G FSD2 fibronectin type III and SPRY domain containing 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:62,790,477...62,842,838
Ensembl chr15:80,657,013...80,684,790
JBrowse link
G FSIP1 fibrous sheath interacting protein 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:18,540,424...18,722,868 JBrowse link
G FURIN furin, paired basic amino acid cleaving enzyme ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:69,560,774...69,576,007
Ensembl chr15:88,763,269...88,774,023
JBrowse link
G GABPB1 GA binding protein transcription factor subunit beta 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:29,223,588...29,303,863
Ensembl chr15:47,547,202...47,600,234
JBrowse link
G GALK2 galactokinase 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:28,103,719...28,278,718
Ensembl chr15:46,440,759...46,600,440
JBrowse link
G GATM glycine amidinotransferase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:24,309,045...24,326,673
Ensembl chr15:42,639,597...42,657,209
JBrowse link
G GCHFR GTP cyclohydrolase I feedback regulator ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:19,704,891...19,708,686
Ensembl chr15:37,957,109...37,960,973
JBrowse link
G GCNT3 glucosaminyl (N-acetyl) transferase 3, mucin type ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:38,580,509...38,589,223
Ensembl chr15:56,892,716...56,894,032
JBrowse link
G GDPGP1 GDP-D-glucose phosphorylase 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:17407155 PMID:28492532 NCBI chr15:68,923,301...68,931,353
Ensembl chr15:88,132,147...88,133,304
JBrowse link
G GJD2 gap junction protein delta 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:13,668,639...13,672,691
Ensembl chr15:31,928,157...31,931,474
JBrowse link
G GLCE glucuronic acid epimerase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:48,110,725...48,222,251
Ensembl chr15:66,979,271...66,995,646
JBrowse link
G GLDN gliomedin ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:30,285,743...30,352,403
Ensembl chr15:48,619,452...48,685,616
JBrowse link
G GNB5 G protein subunit beta 5 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:31,061,310...31,122,427
Ensembl chr15:49,388,026...49,452,123
JBrowse link
G GOLGA6B golgin A6 family member B ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:51,553,289...51,584,844 JBrowse link
G GOLM2 golgi membrane protein 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:23,248,227...23,372,928
Ensembl chr15:41,418,910...41,542,748
JBrowse link
G GPR176 G protein-coupled receptor 176 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:18,739,092...18,858,618
Ensembl chr15:36,995,149...37,007,073
JBrowse link
G GRAMD2A GRAM domain containing 2A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:51,111,249...51,148,379
Ensembl chr15:69,874,593...69,912,241
JBrowse link
G GREM1 gremlin 1, DAN family BMP antagonist ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:11,213,870...11,230,619 JBrowse link
G GTF2A2 general transcription factor IIA subunit 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:38,608,360...38,627,156
Ensembl chr15:56,913,452...56,932,052
JBrowse link
G HACD3 3-hydroxyacyl-CoA dehydratase 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:44,473,542...44,520,885
Ensembl chr15:62,752,762...62,799,950
JBrowse link
G HAPLN3 hyaluronan and proteoglycan link protein 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:17407155 PMID:28492532 NCBI chr15:67,565,957...67,584,352
Ensembl chr15:86,773,882...86,792,120
JBrowse link
G HAUS2 HAUS augmin like complex subunit 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:21,510,173...21,531,733
Ensembl chr15:39,666,043...39,683,322
JBrowse link
G HCN4 hyperpolarization activated cyclic nucleotide gated potassium channel 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:52,231,906...52,285,220
Ensembl chr15:70,997,020...71,042,285
JBrowse link
G HDC histidine decarboxylase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:29,188,296...29,212,327
Ensembl chr15:47,510,629...47,534,577
JBrowse link
G HDDC3 HD domain containing 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:69,623,932...69,628,130 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 chr15:42,555,131...42,785,228
Ensembl chr15:60,848,493...61,017,244
JBrowse link
G HEXA hexosaminidase subunit alpha ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:51,235,123...51,326,832
Ensembl chr15:70,057,943...70,090,688
Ensembl chr15:70,057,943...70,090,688
JBrowse link
G HMG20A high mobility group 20A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:56,348,298...56,413,106
Ensembl chr15:72,137,714...72,202,149
JBrowse link
G HOMER2 homer scaffold protein 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:62,617,905...62,762,903
Ensembl chr15:80,737,570...80,784,729
JBrowse link
G HYKK hydroxylysine kinase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:57,435,833...57,465,557
Ensembl chr15:76,400,131...76,428,844
JBrowse link
G HYPK huntingtin interacting protein K ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:22,760,593...22,762,059
Ensembl chr15:40,850,849...40,852,835
JBrowse link
G ICE2 interactor of little elongation complex ELL subunit 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:39,393,556...39,452,395
Ensembl chr15:57,695,137...57,754,285
JBrowse link
G IDH2 isocitrate dehydrogenase (NADP(+)) 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:17407155 PMID:28492532 NCBI chr15:68,771,050...68,790,523
Ensembl chr15:87,972,889...87,991,276
JBrowse link
G IDH3A isocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:57,078,588...57,099,934
Ensembl chr15:76,043,311...76,064,634
JBrowse link
G IGDCC3 immunoglobulin superfamily DCC subclass member 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:44,272,875...44,324,328
Ensembl chr15:62,554,128...62,604,748
JBrowse link
G IGDCC4 immunoglobulin superfamily DCC subclass member 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:44,327,428...44,369,024
Ensembl chr15:62,608,243...62,642,881
JBrowse link
G IL16 interleukin 16 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:60,181,827...60,299,406
Ensembl chr15:79,122,988...79,250,861
JBrowse link
G IMP3 IMP U3 small nucleolar ribonucleoprotein 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:54,547,455...54,548,633
Ensembl chr15:74,141,156...74,141,710
JBrowse link
G INO80 INO80 complex ATPase subunit ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:19,920,980...20,058,117
Ensembl chr15:38,170,982...38,307,311
JBrowse link
G INSYN1 inhibitory synaptic factor 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:52,650,196...52,663,270
Ensembl chr15:71,405,502...71,418,269
JBrowse link
G INTS14 integrator complex subunit 14 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:44,521,277...44,552,780
Ensembl chr15:62,800,351...62,831,946
JBrowse link
G IQCH IQ motif containing H ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:46,206,780...46,457,549
Ensembl chr15:64,477,650...64,720,706
JBrowse link
G IQGAP1 IQ motif containing GTPase activating protein 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:17407155 PMID:28492532 NCBI chr15:69,076,025...69,190,082
Ensembl chr15:88,276,851...88,388,594
JBrowse link
G IREB2 iron responsive element binding protein 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:57,367,314...57,430,322
Ensembl chr15:76,331,610...76,394,476
JBrowse link
G ISG20 interferon stimulated exonuclease gene 20 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:67,328,334...67,345,085
Ensembl chr15:86,536,647...86,553,751
JBrowse link
G ISL2 ISL LIM homeobox 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:55,250,837...55,257,775
Ensembl chr15:74,843,797...74,848,635
JBrowse link
G ISLR immunoglobulin superfamily containing leucine rich repeat ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:53,112,206...53,115,367
Ensembl chr15:72,736,331...72,737,617
JBrowse link
G ISLR2 immunoglobulin superfamily containing leucine rich repeat 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:53,066,685...53,075,324 JBrowse link
G ITGA11 integrin subunit alpha 11 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:47,260,931...47,390,062
Ensembl chr15:66,031,201...66,128,985
JBrowse link
G ITPKA inositol-trisphosphate 3-kinase A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:20,434,532...20,444,389
Ensembl chr15:38,675,600...38,684,779
JBrowse link
G IVD isovaleryl-CoA dehydrogenase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:19,342,283...19,372,465
Ensembl chr15:37,596,688...37,609,902
JBrowse link
G KATNBL1 katanin regulatory subunit B1 like 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:12,650,139...12,719,655
Ensembl chr15:31,484,885...31,554,402
JBrowse link
G KBTBD13 kelch repeat and BTB domain containing 13 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:44,016,331...44,019,797
Ensembl chr15:62,300,878...62,302,254
JBrowse link
G KIF23 kinesin family member 23 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:48,364,891...48,399,038
Ensembl chr15:67,135,401...67,169,531
JBrowse link
G KIF7 kinesin family member 7 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:17407155 PMID:28492532 NCBI chr15:68,312,064...68,349,864
Ensembl chr15:87,529,290...87,553,445
JBrowse link
G KLHL25 kelch like family member 25 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:64,448,130...64,486,254
Ensembl chr15:83,670,090...83,671,859
JBrowse link
G KNL1 kinetochore scaffold 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:19,539,264...19,609,593
Ensembl chr15:37,801,705...37,860,858
JBrowse link
G KNSTRN kinetochore localized astrin (SPAG5) binding protein ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:19,316,854...19,328,425 JBrowse link
G LACTB lactamase beta ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:42,069,069...42,089,329
Ensembl chr15:60,365,427...60,385,179
JBrowse link
G LARP6 La ribonucleoprotein 6, translational regulator ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:49,781,184...49,803,856
Ensembl chr15:68,547,937...68,552,899
JBrowse link
G LCMT2 leucine carboxyl methyltransferase 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:22,288,992...22,291,814
Ensembl chr15:40,444,633...40,446,693
JBrowse link
G LCTL lactase like ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:45,495,650...45,514,096
Ensembl chr15:63,769,946...63,787,409
JBrowse link
G LDHAL6B lactate dehydrogenase A like 6B ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:38,176,451...38,179,189
Ensembl chr15:56,484,343...56,485,488
JBrowse link
G LEO1 LEO1 homolog, Paf1/RNA polymerase II complex component ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:30,879,431...30,913,361
Ensembl chr15:49,208,132...49,241,055
JBrowse link
G LINC02694 long intergenic non-protein coding RNA 2694 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:17,625,792...17,629,200 JBrowse link
G LINGO1 leucine rich repeat and Ig domain containing 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:56,424,422...56,747,075
Ensembl chr15:72,328,079...72,347,016
JBrowse link
G LIPC lipase C, hepatic type ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:37,363,507...37,537,723
Ensembl chr15:55,814,017...55,847,005
JBrowse link
G LMAN1L lectin, mannose binding 1 like ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:53,754,682...53,768,324
Ensembl chr15:73,373,160...73,386,050
JBrowse link
G LOC100981651 chromosome 15 C15orf54 homolog ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:18,194,424...18,195,749 JBrowse link
G LOC100984344 calpain-3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:21,227,371...21,372,406
Ensembl chr15:39,476,302...39,528,820
Ensembl chr15:39,476,302...39,528,820
JBrowse link
G LOC100987752 actin alpha cardiac muscle 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:13,707,475...13,712,905
Ensembl chr15:31,966,278...31,971,782
JBrowse link
G LOC100988094 cytochrome c oxidase subunit 5A, mitochondrial ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:53,860,721...53,878,699 JBrowse link
G LOC100991599 creatine kinase U-type, mitochondrial ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:22,654,349...22,660,890 JBrowse link
G LOC117975990 golgin subfamily A member 8B ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:12,895,442...12,917,196 JBrowse link
G LOC129392921 sodium/nucleoside cotransporter 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:63,551,499...63,613,461
Ensembl chr15:82,875,339...82,935,762
Ensembl chr15:82,875,339...82,935,762
JBrowse link
G LOXL1 lysyl oxidase like 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:52,835,675...52,861,324 JBrowse link
G LPCAT4 lysophosphatidylcholine acyltransferase 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:12,869,782...12,878,350
Ensembl chr15:31,704,297...31,712,779
JBrowse link
G LRRC49 leucine rich repeat containing 49 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:49,841,934...50,023,736
Ensembl chr15:68,589,175...68,769,334
JBrowse link
G LRRC57 leucine rich repeat containing 57 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:21,499,139...21,510,154
Ensembl chr15:39,659,387...39,666,068
JBrowse link
G LTK leukocyte receptor tyrosine kinase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:20,444,471...20,455,586
Ensembl chr15:38,685,255...38,695,381
JBrowse link
G LYSMD2 LysM domain containing 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:30,661,922...30,690,653 JBrowse link
G MAN2A2 mannosidase alpha class 2A member 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:69,595,318...69,614,255
Ensembl chr15:88,795,543...88,810,497
JBrowse link
G MAN2C1 mannosidase alpha class 2C member 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:54,272,142...54,285,102
Ensembl chr15:73,868,134...73,880,704
JBrowse link
G MAP1A microtubule associated protein 1A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:22,472,641...22,493,293
Ensembl chr15:40,627,099...40,647,752
JBrowse link
G MAP2K1 mitogen-activated protein kinase kinase 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:45,337,117...45,438,826
Ensembl chr15:63,613,961...63,714,161
JBrowse link
G MAP2K5 mitogen-activated protein kinase kinase 5 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:46,493,139...46,760,271
Ensembl chr15:64,761,394...65,029,655
JBrowse link
G MAPDA N6-Methyl-AMP deaminase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:22,291,939...22,315,830
Ensembl chr15:40,451,403...40,468,241
JBrowse link
G MAPK6 mitogen-activated protein kinase 6 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:30,946,218...31,007,987
Ensembl chr15:49,273,095...49,335,754
JBrowse link
G MAPKBP1 mitogen-activated protein kinase binding protein 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:20,713,859...20,768,224 JBrowse link
G MEGF11 multiple EGF like domains 11 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:44,836,750...45,208,674
Ensembl chr15:63,116,564...63,204,508
JBrowse link
G MEIS2 Meis homeobox 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:15,814,739...16,025,512
Ensembl chr15:34,072,665...34,282,477
JBrowse link
G MESD mesoderm development LRP chaperone ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:59,959,985...59,970,904
Ensembl chr15:78,914,991...78,926,612
JBrowse link
G MESP1 mesoderm posterior bHLH transcription factor 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:17407155 PMID:28492532 NCBI chr15:68,440,626...68,441,935
Ensembl chr15:87,645,768...87,647,210
JBrowse link
G MESP2 mesoderm posterior bHLH transcription factor 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:17407155 PMID:28492532 NCBI chr15:68,470,528...68,473,209 JBrowse link
G MEX3B mex-3 RNA binding family member B ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:61,025,026...61,029,324
Ensembl chr15:82,172,946...82,180,581
JBrowse link
G MFAP1 microfibril associated protein 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:22,764,678...22,784,934
Ensembl chr15:40,856,392...40,875,376
JBrowse link
G MFGE8 milk fat globule EGF and factor V/VIII domain containing ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:17407155 PMID:28492532 NCBI chr15:67,587,360...67,602,029
Ensembl chr15:86,795,135...86,809,876
JBrowse link
G MGA MAX dimerization protein MGA ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:20,560,842...20,710,269
Ensembl chr15:38,839,708...38,948,847
JBrowse link
G MINAR1 membrane integral NOTCH2 associated receptor 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:58,402,688...58,445,461
Ensembl chr15:77,361,433...77,402,124
JBrowse link
G MINDY2 MINDY lysine 48 deubiquitinase 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:37,737,665...37,831,501
Ensembl chr15:56,047,970...56,134,203
JBrowse link
G MNS1 meiosis specific nuclear structural 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:35,377,490...35,433,871
Ensembl chr15:53,714,110...53,750,050
JBrowse link
G MORF4L1 mortality factor 4 like 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:57,844,220...57,869,139
Ensembl chr15:76,772,007...76,829,259
JBrowse link
G MPI mannose phosphate isomerase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:53,832,088...53,841,832
Ensembl chr15:73,449,439...73,457,205
JBrowse link
G MRPL46 mitochondrial ribosomal protein L46 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:67,151,616...67,159,521
Ensembl chr15:86,359,188...86,367,113
JBrowse link
G MRPS11 mitochondrial ribosomal protein S11 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:67,159,746...67,172,891
Ensembl chr15:86,367,127...86,377,728
JBrowse link
G MTFMT mitochondrial methionyl-tRNA formyltransferase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:43,942,227...43,969,182
Ensembl chr15:62,225,620...62,253,612
JBrowse link
G MTHFS methenyltetrahydrofolate synthetase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:58,810,966...58,864,831
Ensembl chr15:77,770,216...77,822,206
JBrowse link
G MYEF2 myelin expression factor 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:27,086,001...27,127,313
Ensembl chr15:45,412,593...45,443,600
JBrowse link
G MYO1E myosin IE ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:38,106,599...38,343,040
Ensembl chr15:56,413,570...56,649,722
JBrowse link
G MYO5A myosin VA ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:31,246,192...31,470,040
Ensembl chr15:49,578,491...49,704,319
JBrowse link
G MYO5C myosin VC ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:31,133,566...31,235,074
Ensembl chr15:49,459,741...49,549,752
JBrowse link
G MYO9A myosin IXA ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:50,771,747...51,069,700
Ensembl chr15:69,541,318...69,760,771
JBrowse link
G MYZAP myocardial zonula adherens protein ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:36,560,355...36,653,881
Ensembl chr15:54,873,644...54,997,202
JBrowse link
G NDUFAF1 NADH:ubiquinone oxidoreductase complex assembly factor 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:20,326,486...20,341,156
Ensembl chr15:38,569,731...38,583,872
JBrowse link
G NEDD4 NEDD4 E3 ubiquitin protein ligase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:34,798,880...34,963,823
Ensembl chr15:53,118,411...53,283,076
JBrowse link
G NEIL1 nei like DNA glycosylase 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:54,263,424...54,271,601
Ensembl chr15:73,858,910...73,867,474
JBrowse link
G NEO1 neogenin 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:51,968,238...52,221,116
Ensembl chr15:70,789,035...70,977,178
JBrowse link
G NGRN neugrin, neurite outgrowth associated ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:17407155 PMID:28492532 NCBI chr15:68,954,039...68,960,612
Ensembl chr15:88,156,109...88,162,659
JBrowse link
G NMB neuromedin B ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:63,322,869...63,326,989 JBrowse link
G NOP10 NOP10 ribonucleoprotein ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:12,850,708...12,852,171
Ensembl chr15:31,684,833...31,686,305
JBrowse link
G NOX5 NADPH oxidase 5 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:47,961,085...48,003,529
Ensembl chr15:66,734,521...66,777,037
JBrowse link
G NPTN neuroplastin ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:52,470,545...52,544,046
Ensembl chr15:71,229,992...71,269,579
JBrowse link
G NR2E3 nuclear receptor subfamily 2 group E member 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:50,759,707...50,767,703
Ensembl chr15:69,525,351...69,533,034
JBrowse link
G NRG4 neuregulin 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:54,849,104...54,972,379
Ensembl chr15:74,449,691...74,518,748
JBrowse link
G NSMCE2 NSE2 (MMS21) homolog, SMC5-SMC6 complex SUMO ligase ISO OMIM:210900 MouseDO NCBI chr 8:121,777,986...122,052,094
Ensembl chr 8:124,529,268...124,803,114
JBrowse link
G NTRK3 neurotrophic receptor tyrosine kinase 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:66,566,219...66,953,279
Ensembl chr15:85,776,832...86,157,204
JBrowse link
G NUSAP1 nucleolar and spindle associated protein 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:20,273,953...20,322,512
Ensembl chr15:38,517,591...38,564,695
JBrowse link
G NUTM1 NUT midline carcinoma family member 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:12,852,280...12,868,873
Ensembl chr15:31,686,443...31,703,128
JBrowse link
G OAZ2 ornithine decarboxylase antizyme 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:43,629,712...43,645,426
Ensembl chr15:61,919,532...61,933,821
JBrowse link
G OIP5 Opa interacting protein 5 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:20,250,339...20,273,856
Ensembl chr15:38,494,534...38,517,300
JBrowse link
G ONECUT1 one cut homeobox 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:31,694,830...31,727,644
Ensembl chr15:50,016,010...50,053,062
JBrowse link
G PAK6 p21 (RAC1) activated kinase 6 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:19,173,171...19,211,572
Ensembl chr15:37,453,802...37,465,119
JBrowse link
G PAK6-AS1 PAK6 antisense RNA 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:19,184,775...19,187,261 JBrowse link
G PAQR5 progestin and adipoQ receptor family member 5 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:48,248,552...48,357,205
Ensembl chr15:67,082,077...67,127,765
JBrowse link
G PARP16 poly(ADP-ribose) polymerase family member 16 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:44,163,785...44,231,895
Ensembl chr15:62,485,144...62,513,722
JBrowse link
G PARP6 poly(ADP-ribose) polymerase family member 6 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:51,191,718...51,223,312
Ensembl chr15:69,955,568...69,987,061
JBrowse link
G PATL2 PAT1 homolog 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:23,622,330...23,667,962
Ensembl chr15:41,790,682...41,801,825
JBrowse link
G PCLAF PCNA clamp associated factor ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:43,311,115...43,331,979
Ensembl chr15:61,602,830...61,617,303
JBrowse link
G PDCD7 programmed cell death 7 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:44,057,667...44,073,812 JBrowse link
G PDE8A phosphodiesterase 8A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:63,649,336...63,805,613
Ensembl chr15:82,971,986...83,127,957
JBrowse link
G PDIA3 protein disulfide isomerase family A member 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:22,706,520...22,731,672
Ensembl chr15:40,794,144...40,821,763
JBrowse link
G PEAK1 pseudopodium enriched atypical kinase 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:56,038,568...56,348,118 JBrowse link
G PEX11A peroxisomal biogenesis factor 11 alpha ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:17407155 PMID:28492532 NCBI chr15:68,375,201...68,384,440
Ensembl chr15:87,581,564...87,590,684
JBrowse link
G PGBD4 piggyBac transposable element derived 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:12,611,489...12,617,110 JBrowse link
G PIAS1 protein inhibitor of activated STAT 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:47,006,718...47,141,035
Ensembl chr15:65,276,530...65,410,105
JBrowse link
G PIERCE2 piercer of microtubule wall 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:34,379,792...34,390,023
Ensembl chr15:52,702,057...52,712,290
JBrowse link
G PIF1 PIF1 5'-to-3' DNA helicase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:43,756,605...43,766,631
Ensembl chr15:62,041,461...62,052,311
JBrowse link
G PIGB phosphatidylinositol glycan anchor biosynthesis class B ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:34,288,600...34,325,079
Ensembl chr15:52,611,474...52,647,797
JBrowse link
G PKM pyruvate kinase M1/2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:51,149,584...51,182,193
Ensembl chr15:69,913,455...69,945,832
JBrowse link
G PLA2G4D phospholipase A2 group IVD ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:21,021,875...21,048,848
Ensembl chr15:39,182,100...39,208,996
JBrowse link
G PLA2G4E phospholipase A2 group IVE ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:20,937,573...20,975,388
Ensembl chr15:39,095,777...39,165,161
JBrowse link
G PLA2G4F phospholipase A2 group IVF ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:21,095,474...21,110,983
Ensembl chr15:39,253,819...39,271,482
JBrowse link
G PLCB2 phospholipase C beta 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:19,218,329...19,241,977
Ensembl chr15:37,476,699...37,496,813
JBrowse link
G PLEKHO2 pleckstrin homology domain containing O2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:43,782,812...43,808,969
Ensembl chr15:62,052,563...62,093,865
JBrowse link
G PLIN1 perilipin 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:17407155 PMID:28492532 NCBI chr15:68,357,815...68,375,062
Ensembl chr15:87,565,468...87,577,301
JBrowse link
G PML PML nuclear body scaffold ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:52,903,874...52,955,151
Ensembl chr15:71,658,884...71,710,883
JBrowse link
G POLG DNA polymerase gamma, catalytic subunit ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:17407155 PMID:28492532 NCBI chr15:68,008,214...68,028,241
Ensembl chr15:87,214,451...87,234,739
JBrowse link
G POLR2M RNA polymerase II subunit M ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:36,674,521...36,685,343
Ensembl chr15:54,873,644...54,997,202
JBrowse link
G PPCDC phosphopantothenoylcysteine decarboxylase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:53,963,001...54,001,550
Ensembl chr15:73,579,583...73,606,834
JBrowse link
G PPIB peptidylprolyl isomerase B ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:43,108,139...43,115,470
Ensembl chr15:61,400,272...61,406,758
JBrowse link
G PPIP5K1 diphosphoinositol pentakisphosphate kinase 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:22,495,159...22,553,264 JBrowse link
G PPP1R14D protein phosphatase 1 regulatory inhibitor subunit 14D ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:19,756,077...19,786,920
Ensembl chr15:38,007,632...38,022,094
JBrowse link
G PRC1 protein regulator of cytokinesis 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:69,659,420...69,687,707
Ensembl chr15:88,856,323...88,884,071
JBrowse link
G PRTG protogenin ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:34,579,267...34,715,039
Ensembl chr15:52,910,486...53,032,562
JBrowse link
G PSMA4 proteasome 20S subunit alpha 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:57,468,590...57,477,390
Ensembl chr15:76,431,890...76,440,655
JBrowse link
G PSTPIP1 proline-serine-threonine phosphatase interacting protein 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 Ensembl chr15:75,533,114...75,552,365 JBrowse link
G PTPN9 protein tyrosine phosphatase non-receptor type 9 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:54,382,689...54,489,942
Ensembl chr15:73,978,147...74,034,204
JBrowse link
G PYGO1 pygopus family PHD finger 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:34,509,787...34,556,686
Ensembl chr15:52,838,651...52,879,630
JBrowse link
G RAB11A RAB11A, member RAS oncogene family ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:44,810,880...44,833,438
Ensembl chr15:63,088,084...63,108,077
JBrowse link
G RAB27A RAB27A, member RAS oncogene family ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:34,174,491...34,263,045
Ensembl chr15:52,498,202...52,529,984
JBrowse link
G RAB8B RAB8B, member RAS oncogene family ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:42,136,776...42,214,792
Ensembl chr15:60,432,749...60,510,547
JBrowse link
G RAD51 RAD51 recombinase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:19,638,310...19,672,474
Ensembl chr15:37,891,056...37,925,207
JBrowse link
G RAMAC RNA guanine-7 methyltransferase activating subunit ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:62,613,027...62,617,863
Ensembl chr15:80,876,487...80,881,337
JBrowse link