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HISTONE MODIFICATION PATHWAY (PW:0001338)

View Ontology Report

Description

Epigenetic changes, the modification and remodeling of chromatin, play a key role in the differential expression of genes. Chromatin modification and remodeling directly affect the relative relaxation or compaction of chromatin and thus, the extent to which DNA replication, transcription, damage response and repair, associated RNA processing and splicing are promoted or are silenced, respectively. The basic unit of chromatin is the nucleosome - it consists of 145-147 base pairs of DNA wrapped ar

Pathway Diagram:

Elsevier Inc. arginine lysine chromatin remodeling pathway DNA modification pathway phosphoSTY methylarginine ubiquitinlysine methyllysine acetyllysine histone chaperones Kdeubiquitinases ---> ubiquitinlysine COMPASS complexes ---> lysine PRC2 complex ---> lysine gene expression histone octamer Rme-readers P-readers Kdeubiquitinases Kdemethylases Kme-readers Kac-readers Kdeacetylases Kacetylases ---> gene expression P-readers ---- phosphoSTY Kacetylases ---> lysine Kacetylases methylarginine ---- Rme-readers PRC1 complex ---> lysine acetyllysine ---- Kac-readers Kme-readers ---- methyllysine histone chaperones ---- histone octamer histone chaperones ---- PTM histone octamer Kdeacetylases ---> acetyllysine Kdemethylases ---> methyllysine Kme-readers ---> gene expression Kac-readers ---> gene expression Rmethylases Rmethylases ---> arginine unmodified-Kreaders lncRNAs, chromatin modification ---> gene expression lncRNAs, chromatin modification PTM histone octamer Kmehylases Kmehylases ---> lysine lysine ---- unmodified-Kreaders COMPASS complexes PRC1 complex PRC2 complex PRC1 complex ---| gene expression COMPASS complexes --+> gene expression PRC2 complex ---| gene expression Kdeubiquitinases --+> gene expression Kdeacetylases ---| gene expression
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Genes in Pathway:


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histone modification pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aebp2 AE binding protein 2 ISO RGD PMID:24148750 RGD:9479059 NCBI chr 4:173,527,881...173,566,033
Ensembl chr 4:173,528,344...173,593,100
JBrowse link
G Aplf aprataxin and PNKP like factor ISO RGD PMID:23288364 RGD:9068945 NCBI chr 4:120,070,471...120,122,656
Ensembl chr 4:120,070,471...120,122,633
JBrowse link
G Asf1a anti-silencing function 1A histone chaperone ISO RGD PMID:23288364 RGD:9068945 NCBI chr20:32,893,962...32,908,808
Ensembl chr20:32,893,573...32,908,808
JBrowse link
G Asf1b anti-silencing function 1B histone chaperone ISO RGD PMID:23288364 RGD:9068945 NCBI chr19:24,181,024...24,195,604
Ensembl chr19:24,181,028...24,195,549
JBrowse link
G Ash1l ASH1 like histone lysine methyltransferase ISO RGD PMID:23200123 RGD:7242632 NCBI chr 2:174,346,267...174,483,057
Ensembl chr 2:174,346,150...174,483,055
JBrowse link
G Ash2l ASH2 like histone lysine methyltransferase complex subunit ISO RGD PMID:22663077 RGD:9479053 NCBI chr16:66,242,205...66,264,064
Ensembl chr16:66,242,212...66,264,061
JBrowse link
G Bap1 Brca1 associated protein 1 ISO RGD PMID:24647359 RGD:9479061 NCBI chr16:6,446,709...6,455,535
Ensembl chr16:6,446,709...6,455,535
JBrowse link
G Birc5 baculoviral IAP repeat-containing 5 ISO RGD PMID:23642229 RGD:9479074 NCBI chr10:103,072,530...103,081,382
Ensembl chr10:103,073,408...103,081,380
JBrowse link
G Bmi1 BMI1 proto-oncogene, polycomb ring finger ISO RGD PMID:23473600 PMID:25065329 RGD:9479058, RGD:9479060 NCBI chr17:81,332,175...81,341,625
Ensembl chr17:81,332,214...81,388,690
JBrowse link
G Bptf bromodomain PHD finger transcription factor ISO RGD PMID:24686119 PMID:23642229 RGD:9479075, RGD:9479074 NCBI chr10:91,980,279...92,082,731
Ensembl chr10:91,982,758...92,082,769
JBrowse link
G Brcc3 BRCA1/BRCA2-containing complex subunit 3 ISO RGD PMID:24647359 RGD:9479061 NCBI chr 9:1,986,942...1,989,484
Ensembl chr 9:1,986,575...1,991,080
JBrowse link
G Brd1 bromodomain containing 1 ISO RGD PMID:24686119 RGD:9479075 NCBI chr 7:119,774,187...119,822,032
Ensembl chr 7:119,774,188...119,822,031
JBrowse link
G Brd2 bromodomain containing 2 ISO RGD PMID:24686119 RGD:9479075 NCBI chr20:4,727,078...4,735,389
Ensembl chr20:4,728,151...4,735,388
JBrowse link
G Brd3 bromodomain containing 3 ISO RGD PMID:24686119 RGD:9479075 NCBI chr 3:10,773,163...10,829,675
Ensembl chr 3:10,775,272...10,829,577
JBrowse link
G Brd4 bromodomain containing 4 ISO RGD PMID:24686119 RGD:9479075 NCBI chr 7:11,216,446...11,296,029
Ensembl chr 7:11,216,446...11,295,539
JBrowse link
G Brd7 bromodomain containing 7 ISO RGD PMID:24686119 RGD:9479075 NCBI chr19:18,708,792...18,737,497
Ensembl chr19:18,709,022...18,737,494
JBrowse link
G Brdt bromodomain testis associated ISO RGD PMID:24686119 RGD:9479075 NCBI chr14:2,387,372...2,445,857
Ensembl chr14:2,387,796...2,445,842
JBrowse link
G Brf1 BRF1, RNA polymerase III transcription initiation factor subunit ISO RGD PMID:23642229 RGD:9479074 NCBI chr 6:132,034,378...132,081,313
Ensembl chr 6:132,037,272...132,081,278
JBrowse link
G Carm1 coactivator-associated arginine methyltransferase 1 ISO RGD PMID:24583552 RGD:9479047 NCBI chr 8:20,097,262...20,141,950
Ensembl chr 8:20,097,254...20,147,689
JBrowse link
G Cbx2 chromobox 2 ISO RGD PMID:23473600 PMID:25065329 RGD:9479058, RGD:9479060 NCBI chr10:104,278,517...104,287,384
Ensembl chr10:104,278,549...104,287,383
JBrowse link
G Cbx4 chromobox 4 ISO RGD PMID:23473600 PMID:25065329 RGD:9479058, RGD:9479060 NCBI chr10:104,337,140...104,343,210
Ensembl chr10:104,336,876...104,356,706
JBrowse link
G Cbx5 chromobox 5 ISO RGD PMID:23642229 RGD:9479074 NCBI chr 7:134,333,165...134,376,102
Ensembl chr 7:134,331,335...134,375,022
JBrowse link
G Cbx6 chromobox 6 ISO RGD PMID:23473600 PMID:25065329 RGD:9479058, RGD:9479060 NCBI chr 7:111,372,979...111,383,026
Ensembl chr 7:111,372,980...111,383,091
JBrowse link
G Cbx7 chromobox 7 ISO RGD PMID:23473600 PMID:25065329 RGD:9479058, RGD:9479060 NCBI chr 7:111,460,656...111,479,231
Ensembl chr 7:111,460,656...111,477,973
JBrowse link
G Cbx8 chromobox 8 ISO RGD PMID:23473600 PMID:25065329 RGD:9479058, RGD:9479060 NCBI chr10:104,294,518...104,296,956
Ensembl chr10:104,294,518...104,297,024
JBrowse link
G Chaf1a chromatin assembly factor 1 subunit A ISO RGD PMID:23288364 RGD:9068945 NCBI chr 9:873,953...900,701
Ensembl chr 9:874,051...900,654
JBrowse link
G Chaf1b chromatin assembly factor 1 subunit B ISO RGD PMID:23288364 RGD:9068945 NCBI chr11:33,200,894...33,221,076
Ensembl chr11:33,200,981...33,221,070
JBrowse link
G Chd1 chromodomain helicase DNA binding protein 1 ISO RGD PMID:23642229 RGD:9479074 NCBI chr 1:56,661,743...56,729,119
Ensembl chr 1:56,664,054...56,728,125
JBrowse link
G Crebbp CREB binding protein ISO RGD PMID:21151613 PMID:24686119 RGD:9104959, RGD:9479075 NCBI chr10:11,335,551...11,461,888
Ensembl chr10:11,335,953...11,461,888
JBrowse link
G Cxxc1 CXXC finger protein 1 ISO RGD PMID:22663077 RGD:9479053 NCBI chr18:67,813,185...67,818,556
Ensembl chr18:67,813,206...67,818,551
JBrowse link
G Daxx death-domain associated protein ISO RGD PMID:23288364 RGD:9068945 NCBI chr20:4,970,090...4,976,145
Ensembl chr20:4,970,092...4,975,843
JBrowse link
G Dot1l DOT1 like histone lysine methyltransferase ISO RGD PMID:23200123 RGD:7242632 NCBI chr 7:8,918,764...8,959,474
Ensembl chr 7:8,917,786...8,956,475
JBrowse link
G Dpf3 double PHD fingers 3 ISO RGD PMID:23642229 RGD:9479074 NCBI chr 6:102,841,403...103,125,558
Ensembl chr 6:102,846,029...103,125,493
JBrowse link
G Dpy30 dpy-30 histone methyltransferase complex regulatory subunit ISO RGD PMID:22663077 RGD:9479053 NCBI chr 6:21,120,947...21,141,720
Ensembl chr 6:21,120,947...21,141,432
JBrowse link
G Eed embryonic ectoderm development ISO RGD PMID:23473600 PMID:24148750 RGD:9479058, RGD:9479059 NCBI chr 1:143,867,875...143,895,008
Ensembl chr 1:143,867,875...143,894,974
JBrowse link
G Ehmt1 euchromatic histone lysine methyltransferase 1 ISO RGD PMID:23200123 RGD:7242632 NCBI chr 3:7,580,680...7,729,046
Ensembl chr 3:7,580,683...7,729,007
JBrowse link
G Ehmt2 euchromatic histone lysine methyltransferase 2 ISO RGD PMID:23200123 PMID:23642229 RGD:7242632, RGD:9479074 NCBI chr20:3,919,623...3,936,751
Ensembl chr20:3,919,624...3,941,547
JBrowse link
G Ep300 E1A binding protein p300 ISO RGD PMID:21151613 RGD:9104959 NCBI chr 7:113,108,476...113,178,529
Ensembl chr 7:113,106,247...113,136,088
Ensembl chr 7:113,106,247...113,136,088
JBrowse link
G Ezh1 enhancer of zeste 1 polycomb repressive complex 2 subunit ISO RGD PMID:23473600 PMID:24148750 RGD:9479058, RGD:9479059 NCBI chr10:86,126,023...86,162,001
Ensembl chr10:86,126,015...86,161,921
JBrowse link
G Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit ISO RGD PMID:23200123 PMID:23473600 PMID:24148750 RGD:7242632, RGD:9479058, RGD:9479059 NCBI chr 4:76,624,399...76,687,362
Ensembl chr 4:76,624,399...76,687,362
JBrowse link
G H2ax H2A.X variant histone ISO RGD PMID:24614311 RGD:9075965 NCBI chr 8:44,671,907...44,673,262
Ensembl chr 8:44,671,786...44,673,239
JBrowse link
G H2az1 H2A.Z variant histone 1 ISO RGD PMID:24696452 RGD:9074213 NCBI chr 2:226,355,668...226,357,984
Ensembl chr 2:226,355,708...226,358,485
JBrowse link
G H3f3a H3.3 histone A ISO RGD PMID:24614311 RGD:9075965 NCBI chr13:92,533,289...92,544,902
Ensembl chr13:92,533,298...92,544,908
JBrowse link
G H3f3b H3.3 histone B ISO RGD PMID:24614311 RGD:9075965 NCBI chr10:101,256,484...101,258,716
Ensembl chr10:101,256,480...101,258,709
JBrowse link
G Hat1 histone acetyltransferase 1 ISO RGD PMID:21151613 RGD:9104959 NCBI chr 3:56,217,344...56,265,021
Ensembl chr 3:56,217,342...56,275,517
JBrowse link
G Hcfc1 host cell factor C1 ISO RGD PMID:22663077 RGD:9479053 NCBI chr  X:151,687,779...151,712,688
Ensembl chr  X:151,687,779...151,712,638
JBrowse link
G Hdac1 histone deacetylase 1 ISO RGD PMID:21151613 RGD:9104959 NCBI chr 5:141,853,992...141,881,057
Ensembl chr 5:141,853,989...141,881,111
JBrowse link
G Hdac10 histone deacetylase 10 ISO RGD PMID:21151613 RGD:9104959 NCBI chr 7:120,199,126...120,205,850
Ensembl chr 7:120,199,129...120,204,228
JBrowse link
G Hdac11 histone deacetylase 11 ISO RGD PMID:21151613 RGD:9104959 NCBI chr 4:123,645,873...123,667,407
Ensembl chr 4:123,650,157...123,667,405
JBrowse link
G Hdac2 histone deacetylase 2 ISO RGD PMID:21151613 RGD:9104959 NCBI chr20:40,548,244...40,571,609
Ensembl chr20:40,548,250...40,571,609
JBrowse link
G Hdac3 histone deacetylase 3 ISO RGD PMID:21151613 RGD:9104959 NCBI chr18:29,770,637...29,789,850
Ensembl chr18:29,770,636...29,793,856
JBrowse link
G Hdac4 histone deacetylase 4 ISO RGD PMID:21151613 RGD:9104959 NCBI chr 9:92,503,467...92,750,164
Ensembl chr 9:92,507,611...92,750,164
JBrowse link
G Hdac5 histone deacetylase 5 ISO RGD PMID:21151613 RGD:9104959 NCBI chr10:87,152,978...87,187,921
Ensembl chr10:87,152,978...87,188,235
JBrowse link
G Hdac6 histone deacetylase 6 ISO RGD PMID:21151613 RGD:9104959 NCBI chr  X:14,550,645...14,572,445
Ensembl chr  X:14,551,044...14,572,441
JBrowse link
G Hdac7 histone deacetylase 7 ISO RGD PMID:21151613 RGD:9104959 NCBI chr 7:128,923,918...128,961,926
Ensembl chr 7:128,923,920...128,962,072
JBrowse link
G Hdac8 histone deacetylase 8 ISO RGD PMID:21151613 RGD:9104959 NCBI chr  X:67,385,288...67,593,014
Ensembl chr  X:67,385,289...67,592,923
JBrowse link
G Hdac9 histone deacetylase 9 ISO RGD PMID:21151613 RGD:9104959 NCBI chr 6:50,762,074...51,624,311
Ensembl chr 6:50,763,590...51,625,333
JBrowse link
G Hira histone cell cycle regulator ISO RGD PMID:23288364 RGD:9068945 NCBI chr11:82,024,469...82,133,212
Ensembl chr11:82,024,469...82,133,529
JBrowse link
G Hjurp Holliday junction recognition protein ISO RGD PMID:23288364 RGD:9068945 NCBI chr 9:88,853,379...88,867,730
Ensembl chr 9:88,853,386...88,867,728
JBrowse link
G Ing2 inhibitor of growth family, member 2 ISO RGD PMID:23642229 RGD:9479074 NCBI chr16:44,573,592...44,584,180
Ensembl chr16:44,575,597...44,583,482
JBrowse link
G Jarid2 jumonji and AT-rich interaction domain containing 2 ISO RGD PMID:23473600 PMID:24148750 RGD:9479058, RGD:9479059 NCBI chr17:19,777,487...19,957,696
Ensembl chr17:19,777,266...19,955,690
JBrowse link
G Jmjd1c jumonji domain containing 1C ISO RGD PMID:23200123 RGD:7242632 NCBI chr20:21,332,147...21,494,220
Ensembl chr20:21,332,147...21,463,122
JBrowse link
G Kat2a lysine acetyltransferase 2A ISO RGD PMID:21151613 PMID:23642229 RGD:9104959, RGD:9479074 NCBI chr10:85,632,216...85,640,561
Ensembl chr10:85,632,216...85,640,166
JBrowse link
G Kat2b lysine acetyltransferase 2B ISO RGD PMID:21151613 RGD:9104959 NCBI chr 9:6,562,525...6,667,064
Ensembl chr 9:6,562,288...6,667,064
JBrowse link
G Kat5 lysine acetyltransferase 5 ISO RGD PMID:21151613 RGD:9104959 NCBI chr 1:202,895,751...202,903,178
Ensembl chr 1:202,895,751...202,903,458
JBrowse link
G Kat6a lysine acetyltransferase 6A ISO RGD PMID:21151613 RGD:9104959 NCBI chr16:69,084,914...69,165,923
Ensembl chr16:69,084,914...69,163,606
JBrowse link
G Kat6b lysine acetyltransferase 6B ISO RGD PMID:21151613 RGD:9104959 NCBI chr15:2,638,885...2,811,977
Ensembl chr15:2,639,200...2,812,316
JBrowse link
G Kat7 lysine acetyltransferase 7 ISO RGD PMID:21151613 RGD:9104959 NCBI chr10:80,221,519...80,255,590
Ensembl chr10:80,221,524...80,255,567
JBrowse link
G Kat8 lysine acetyltransferase 8 ISO RGD PMID:21151613 RGD:9104959 NCBI chr 1:182,524,355...182,536,638
Ensembl chr 1:182,515,327...182,536,633
JBrowse link
G Kdm1a lysine demethylase 1A ISO RGD PMID:23200123 RGD:7242632 NCBI chr 5:148,782,976...148,838,319
Ensembl chr 5:148,782,976...148,838,319
JBrowse link
G Kdm1b lysine demethylase 1B ISO RGD PMID:23200123 RGD:7242632 NCBI chr17:17,602,961...17,643,865
Ensembl chr17:17,602,961...17,643,800
JBrowse link
G Kdm2a lysine demethylase 2A ISO RGD PMID:23200123 RGD:7242632 NCBI chr 1:201,612,427...201,682,359
Ensembl chr 1:201,612,453...201,680,787
JBrowse link
G Kdm2b lysine demethylase 2B ISO RGD PMID:23200123 RGD:7242632 NCBI chr12:33,566,530...33,701,366
Ensembl chr12:33,574,657...33,701,355
JBrowse link
G Kdm3a lysine demethylase 3A ISO RGD PMID:23200123 RGD:7242632 NCBI chr 4:103,630,907...103,675,073
Ensembl chr 4:103,630,908...103,675,073
JBrowse link
G Kdm3b lysine demethylase 3B ISO RGD PMID:23200123 RGD:7242632 NCBI chr18:26,380,859...26,436,701
Ensembl chr18:26,380,964...26,436,628
JBrowse link
G Kdm4a lysine demethylase 4A ISO RGD PMID:23200123 PMID:24035451 PMID:23642229 RGD:7242632, RGD:9479148, RGD:9479074 NCBI chr 5:131,672,754...131,719,534
Ensembl chr 5:131,672,754...131,719,501
JBrowse link
G Kdm4b lysine demethylase 4B ISO RGD PMID:23200123 RGD:7242632 NCBI chr 9:1,158,737...1,237,233
Ensembl chr 9:1,158,752...1,236,543
JBrowse link
G Kdm4c lysine demethylase 4C ISO RGD PMID:23200123 RGD:7242632 NCBI chr 5:88,100,710...88,306,821
Ensembl chr 5:88,100,733...88,306,818
JBrowse link
G Kdm4d lysine demethylase 4D ISO RGD PMID:23200123 RGD:7242632 NCBI chr 8:11,279,756...11,304,920
Ensembl chr 8:11,268,859...11,305,290
JBrowse link
G Kdm5a lysine demethylase 5A ISO RGD PMID:23200123 RGD:7242632 NCBI chr 4:153,565,909...153,643,912
Ensembl chr 4:153,565,846...153,642,422
JBrowse link
G Kdm5b lysine demethylase 5B ISO RGD PMID:23200123 RGD:7242632 NCBI chr13:46,001,589...46,073,868
Ensembl chr13:46,002,542...46,073,872
JBrowse link
G Kdm5c lysine demethylase 5C ISO RGD PMID:23200123 RGD:7242632 NCBI chr  X:21,345,459...21,387,045
Ensembl chr  X:21,345,481...21,381,870
JBrowse link
G Kdm5d lysine demethylase 5D ISO RGD PMID:23200123 RGD:7242632 NCBI chr  Y:527,069...624,019
Ensembl chr  Y:530,401...624,018
JBrowse link
G Kdm6a lysine demethylase 6A ISO RGD PMID:22663077 PMID:23200123 RGD:7242632 RGD:9479053 NCBI chr  X:4,337,466...4,477,100
Ensembl chr  X:4,337,750...4,477,062
JBrowse link
G Kdm6b lysine demethylase 6B ISO RGD PMID:23200123 RGD:7242632 NCBI chr10:54,120,716...54,142,212
Ensembl chr10:54,121,848...54,130,794
JBrowse link
G Kdm7a lysine demethylase 7A ISO RGD PMID:23200123 RGD:7242632 NCBI chr 4:67,899,407...67,974,264
Ensembl chr 4:67,904,307...67,966,998
JBrowse link
G Kdm8 lysine demethylase 8 ISO RGD PMID:23200123 RGD:7242632 NCBI chr 1:180,013,969...180,028,829
Ensembl chr 1:180,020,656...180,028,841
JBrowse link
G Kmt2a lysine methyltransferase 2A ISO RGD PMID:23200123 PMID:22663077 RGD:7242632, RGD:9479053 NCBI chr 8:45,116,763...45,193,320
Ensembl chr 8:45,118,814...45,193,181
JBrowse link
G Kmt2b lysine methyltransferase 2B ISO RGD PMID:23200123 RGD:7242632 NCBI chr 1:85,821,700...85,840,987
Ensembl chr 1:85,821,753...85,841,326
JBrowse link
G Kmt2c lysine methyltransferase 2C ISO RGD PMID:23200123 PMID:22663077 RGD:7242632, RGD:9479053 NCBI chr 4:9,620,638...9,834,787
Ensembl chr 4:9,609,627...9,833,539
JBrowse link
G Kmt2d lysine methyltransferase 2D ISO RGD PMID:23200123 PMID:22663077 RGD:7242632, RGD:9479053 NCBI chr 7:129,980,744...130,022,088
Ensembl chr 7:129,962,887...130,020,325
JBrowse link
G Kmt2e lysine methyltransferase 2E ISO RGD PMID:23200123 RGD:7242632 NCBI chr 4:11,658,218...11,727,373
Ensembl chr 4:11,658,979...11,727,373
JBrowse link
G Kmt5a lysine methyltransferase 5A ISO RGD PMID:23200123 RGD:7242632 NCBI chr12:32,139,353...32,167,777
Ensembl chr12:32,139,178...32,162,711
JBrowse link
G Kmt5al1 lysine methyltransferase 5A like 1 ISO RGD PMID:23200123 RGD:7242632 NCBI chr 2:142,289,672...142,292,195 JBrowse link
G Kmt5b lysine methyltransferase 5B ISO RGD PMID:23200123 RGD:7242632 NCBI chr 1:201,000,444...201,049,819
Ensembl chr 1:201,000,444...201,049,819
JBrowse link
G Kmt5c lysine methyltransferase 5C ISO RGD PMID:23200123 RGD:7242632 NCBI chr 1:69,099,531...69,107,145
Ensembl chr 1:69,099,539...69,107,145
JBrowse link
G L3mbtl1 L3MBTL histone methyl-lysine binding protein 1 ISO RGD PMID:23642229 RGD:9479074 NCBI chr 3:151,597,903...151,633,657
Ensembl chr 3:151,602,980...151,631,233
JBrowse link
G Lbr lamin B receptor ISO RGD PMID:24035451 RGD:9479148 NCBI chr13:93,539,386...93,564,026
Ensembl chr13:93,538,920...93,564,017
JBrowse link
G LOC100911617 protein arginine N-methyltransferase 6-like ISO RGD PMID:24583552 RGD:9479047
G Macroh2a1 macroH2A.1 histone ISO RGD PMID:24696452 RGD:9074213 NCBI chr17:8,479,331...8,542,071
Ensembl chr17:8,479,372...8,542,072
JBrowse link
G Macroh2a2 macroH2A.2 histone ISO RGD PMID:24696452 RGD:9074213 NCBI chr20:29,678,194...29,727,867
Ensembl chr20:29,678,222...29,727,891
JBrowse link
G Mcph1 microcephalin 1 ISO RGD PMID:23642229 RGD:9479074 NCBI chr16:71,021,855...71,224,067
Ensembl chr16:71,024,588...71,224,122
JBrowse link
G Mdc1 mediator of DNA damage checkpoint 1 ISO RGD PMID:23642229 RGD:9479074 NCBI chr20:2,893,693...2,912,394
Ensembl chr20:2,895,505...2,910,240
JBrowse link
G Men1 menin 1 ISO RGD PMID:22663077 RGD:9479053 NCBI chr 1:203,638,905...203,644,871
Ensembl chr 1:203,639,000...203,644,871
JBrowse link
G Mtf2 metal response element binding transcription factor 2 ISO RGD PMID:23473600 PMID:24148750 RGD:9479058, RGD:9479059 NCBI chr14:1,639,256...1,683,513
Ensembl chr14:1,640,746...1,683,524
JBrowse link
G Mysm1 myb-like, SWIRM and MPN domains 1 ISO RGD PMID:24647359 RGD:9479061 NCBI chr 5:109,761,345...109,826,652
Ensembl chr 5:109,776,286...109,819,967
JBrowse link
G Nap1l1 nucleosome assembly protein 1-like 1 ISO RGD PMID:23288364 RGD:9068945 NCBI chr 7:46,933,278...46,957,853
Ensembl chr 7:46,933,356...46,956,593
JBrowse link
G Nasp nuclear autoantigenic sperm protein ISO RGD PMID:23288364 RGD:9068945 NCBI chr 5:130,057,363...130,083,003
Ensembl chr 5:130,057,363...130,082,928
JBrowse link
G Ncoa6 nuclear receptor coactivator 6 ISO RGD PMID:22663077 RGD:9479053 NCBI chr 3:143,890,896...143,961,916
Ensembl chr 3:143,890,896...143,952,268
JBrowse link
G Nsd1 nuclear receptor binding SET domain protein 1 ISO RGD PMID:23200123 RGD:7242632 NCBI chr17:9,311,963...9,426,373
Ensembl chr17:9,315,237...9,425,358
JBrowse link
G Nsd3 nuclear receptor binding SET domain protein 3 ISO RGD PMID:23200123 RGD:7242632 NCBI chr16:66,354,030...66,466,202
Ensembl chr16:66,358,973...66,465,423
JBrowse link
G Orc1 origin recognition complex, subunit 1 ISO RGD PMID:23642229 RGD:9479074 NCBI chr 5:123,324,273...123,348,375
Ensembl chr 5:123,324,315...123,348,375
JBrowse link
G Pagr1 Paxip1-associated glutamate-rich protein 1 ISO RGD PMID:22663077 RGD:9479053 NCBI chr 1:181,622,698...181,625,024 JBrowse link
G Paxip1 PAX interacting protein 1 ISO RGD PMID:22663077 RGD:9479053 NCBI chr 4:7,525,132...7,576,659
Ensembl chr 4:7,525,004...7,576,548
JBrowse link
G Pbrm1 polybromo 1 ISO RGD PMID:24686119 RGD:9479075 NCBI chr16:6,213,507...6,312,895
Ensembl chr16:6,213,300...6,311,780
JBrowse link
G Pcgf1 polycomb group ring finger 1 ISO RGD PMID:23473600 PMID:25065329 RGD:9479058, RGD:9479060 NCBI chr 4:115,576,165...115,587,019
Ensembl chr 4:115,583,867...115,587,008
JBrowse link
G Pcgf2 polycomb group ring finger 2 ISO RGD PMID:23473600 PMID:25065329 RGD:9479058 RGD:9479060 NCBI chr10:82,682,563...82,694,563
Ensembl chr10:82,683,553...82,693,406
JBrowse link
G Pcgf3 polycomb group ring finger 3 ISO RGD PMID:23473600 PMID:25065329 RGD:9479058, RGD:9479060 NCBI chr14:1,237,594...1,291,717
Ensembl chr14:1,233,947...1,291,793
JBrowse link
G Pcgf5 polycomb group ring finger 5 ISO RGD PMID:23473600 PMID:25065329 RGD:9479058, RGD:9479060 NCBI chr 1:234,063,854...234,180,022
Ensembl chr 1:234,063,892...234,175,315
JBrowse link
G Pcgf6 polycomb group ring finger 6 ISO RGD PMID:23473600 PMID:25065329 RGD:9479058, RGD:9479060 NCBI chr 1:245,925,354...245,944,964
Ensembl chr 1:245,925,360...245,944,914
JBrowse link
G Phc1 polyhomeotic homolog 1 ISO RGD PMID:23473600 PMID:25065329 RGD:9479058, RGD:9479060 NCBI chr 4:155,510,274...155,532,636
Ensembl chr 4:155,510,274...155,533,959
JBrowse link
G Phc2 polyhomeotic homolog 2 ISO RGD PMID:23473600 PMID:25065329 RGD:9479058, RGD:9479060 NCBI chr 5:141,000,604...141,099,268
Ensembl chr 5:141,050,842...141,099,268
JBrowse link
G Phc3 polyhomeotic homolog 3 ISO RGD PMID:23473600 PMID:25065329 RGD:9479058, RGD:9479060 NCBI chr 2:112,408,709...112,483,719
Ensembl chr 2:112,408,531...112,476,540
JBrowse link
G Phf1 PHD finger protein 1 ISO RGD PMID:23473600 PMID:24148750 PMID:24035451 PMID:23642229 RGD:9479058, RGD:9479059, RGD:9479148, RGD:9479074 NCBI chr20:5,017,765...5,022,872
Ensembl chr20:5,017,893...5,022,871
JBrowse link
G Phf19 PHD finger protein 19 ISO RGD PMID:23473600 PMID:24148750 PMID:24035451 PMID:23642229 RGD:9479058, RGD:9479059, RGD:9479148, RGD:9479074 NCBI chr 3:18,175,281...18,197,289
Ensembl chr 3:18,175,282...18,196,405
JBrowse link
G Phf2 PHD finger protein 2 ISO RGD PMID:23200123 RGD:7242632 NCBI chr17:15,783,221...15,851,209
Ensembl chr17:15,781,864...15,851,208
JBrowse link
G Phf8 PHD finger protein 8 ISO RGD PMID:23200123 RGD:7242632 NCBI chr  X:20,524,103...20,623,459
Ensembl chr  X:20,524,558...20,623,410
JBrowse link
G Prdm16 PR/SET domain 16 ISO RGD PMID:23200123 RGD:7242632 NCBI chr 5:164,879,864...165,203,986
Ensembl chr 5:164,880,587...165,203,601
JBrowse link
G Prdm2 PR/SET domain 2 ISO RGD PMID:23200123 RGD:7242632 NCBI chr 5:155,421,066...155,531,884
Ensembl chr 5:155,422,134...155,531,825
JBrowse link
G Prdm6 PR/SET domain 6 ISO RGD PMID:23200123 RGD:7242632 NCBI chr18:46,904,115...47,008,482
Ensembl chr18:46,904,127...47,007,823
JBrowse link
G Prdm8 PR/SET domain 8 ISO RGD PMID:23200123 RGD:7242632 NCBI chr14:11,403,202...11,424,059
Ensembl chr14:11,404,407...11,410,993
JBrowse link
G Prdm9 PR/SET domain 9 ISO RGD PMID:23200123 RGD:7242632 NCBI chr 1:56,505,579...56,525,726
Ensembl chr 1:56,505,579...56,525,652
JBrowse link
G Prmt1 protein arginine methyltransferase 1 ISO RGD PMID:24583552 RGD:9479047 NCBI chr 1:95,458,853...95,468,176
Ensembl chr 1:95,458,850...95,468,345
JBrowse link
G Prmt2 protein arginine methyltransferase 2 ISO RGD PMID:24583552 RGD:9479047 NCBI chr20:12,394,748...12,420,643
Ensembl chr20:12,394,798...12,420,643
JBrowse link
G Prmt5 protein arginine methyltransferase 5 ISO RGD PMID:24583552 RGD:9479047 NCBI chr15:27,968,893...27,978,291
Ensembl chr15:27,968,910...27,978,296
JBrowse link
G Prmt6 protein arginine methyltransferase 6 ISO RGD PMID:24583552 RGD:9479047 NCBI chr 2:197,927,750...197,932,760
Ensembl chr 2:197,927,220...197,933,648
JBrowse link
G Prmt7 protein arginine methyltransferase 7 ISO RGD PMID:24583552 RGD:9479047 NCBI chr19:34,110,724...34,161,531
Ensembl chr19:34,110,747...34,162,577
JBrowse link
G Rag2 recombination activating 2 ISO RGD PMID:23642229 RGD:9479074 NCBI chr 3:87,902,373...87,910,227
Ensembl chr 3:87,902,238...87,911,066
JBrowse link
G Rbbp4 RB binding protein 4, chromatin remodeling factor ISO RGD PMID:23473600 PMID:24148750 RGD:9479058, RGD:9479059 NCBI chr 5:141,655,863...141,675,157
Ensembl chr 5:141,638,421...141,675,284
JBrowse link
G Rbbp5 RB binding protein 5, histone lysine methyltransferase complex subunit ISO RGD PMID:22663077 RGD:9479053 NCBI chr13:43,912,254...43,939,107
Ensembl chr13:43,912,254...43,939,107
JBrowse link
G Rbbp7 RB binding protein 7, chromatin remodeling factor ISO RGD PMID:23473600 PMID:24148750 RGD:9479058, RGD:9479059 NCBI chr  X:31,913,080...31,931,245
Ensembl chr  X:31,913,081...31,931,226
JBrowse link
G Ring1 ring finger protein 1 ISO RGD PMID:23473600 PMID:25065329 RGD:9479058, RGD:9479060 NCBI chr20:4,830,120...4,833,623
Ensembl chr20:4,830,053...4,833,620
JBrowse link
G Rnf2 ring finger protein 2 ISO RGD PMID:23473600 PMID:25065329 RGD:9479058, RGD:9479060 NCBI chr13:63,553,964...63,584,047
Ensembl chr13:63,554,862...63,583,099
JBrowse link
G Setd1a SET domain containing 1A, histone lysine methyltransferase ISO RGD PMID:22663077 PMID:23200123 RGD:7242632 RGD:9479053 NCBI chr 1:182,386,197...182,411,695
Ensembl chr 1:182,388,060...182,411,090
JBrowse link
G Setd1b SET domain containing 1B, histone lysine methyltransferase ISO RGD PMID:22663077 PMID:23200123 RGD:7242632 RGD:9479053 NCBI chr12:33,395,963...33,421,671
Ensembl chr12:33,396,120...33,426,934
JBrowse link
G Setd2 SET domain containing 2, histone lysine methyltransferase ISO RGD PMID:23200123 RGD:7242632 NCBI chr 8:110,511,808...110,597,475
Ensembl chr 8:110,511,772...110,597,489
JBrowse link
G Setd7 SET domain containing 7, histone lysine methyltransferase ISO RGD PMID:23200123 RGD:7242632 NCBI chr 2:135,562,683...135,605,468
Ensembl chr 2:135,562,683...135,605,468
JBrowse link
G Setdb1 SET domain bifurcated histone lysine methyltransferase 1 ISO RGD PMID:23200123 RGD:7242632 NCBI chr 2:182,898,738...182,930,283
Ensembl chr 2:182,898,738...182,930,506
JBrowse link
G Sgf29 SAGA complex associated factor 29 ISO RGD PMID:24035451 PMID:23642229 RGD:9479148, RGD:9479074 NCBI chr 1:181,238,458...181,271,931
Ensembl chr 1:181,238,468...181,274,781
JBrowse link
G Sirt1 sirtuin 1 ISO RGD PMID:21151613 RGD:9104959 NCBI chr20:25,307,225...25,329,273
Ensembl chr20:25,306,917...25,329,260
JBrowse link
G Sirt2 sirtuin 2 ISO RGD PMID:21151613 RGD:9104959 NCBI chr 1:84,053,883...84,076,975
Ensembl chr 1:84,052,903...84,076,975
JBrowse link
G Sirt3 sirtuin 3 ISO RGD PMID:21151613 RGD:9104959 NCBI chr 1:195,942,066...195,964,472
Ensembl chr 1:195,942,073...195,964,808
JBrowse link
G Sirt4 sirtuin 4 ISO RGD PMID:21151613 RGD:9104959 NCBI chr12:41,125,533...41,139,440
Ensembl chr12:41,131,262...41,139,439
JBrowse link
G Sirt5 sirtuin 5 ISO RGD PMID:21151613 RGD:9104959 NCBI chr17:21,310,028...21,337,137
Ensembl chr17:21,310,028...21,337,101
JBrowse link
G Sirt6 sirtuin 6 ISO RGD PMID:21151613 RGD:9104959 NCBI chr 7:8,082,312...8,087,776
Ensembl chr 7:8,082,364...8,098,914
JBrowse link
G Sirt7 sirtuin 7 ISO RGD PMID:21151613 RGD:9104959 NCBI chr10:105,896,476...105,903,301
Ensembl chr10:105,896,476...105,903,172
JBrowse link
G Smarca2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 ISO RGD PMID:24686119 RGD:9479075 NCBI chr 1:224,191,125...224,358,640
Ensembl chr 1:224,191,125...224,358,684
JBrowse link
G Smarca4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 ISO RGD PMID:24686119 RGD:9479075 NCBI chr 8:20,167,717...20,258,975
Ensembl chr 8:20,167,717...20,258,975
JBrowse link
G Smyd1 SET and MYND domain containing 1 ISO RGD PMID:23200123 RGD:7242632 NCBI chr 4:103,195,330...103,252,989
Ensembl chr 4:103,200,322...103,311,766
JBrowse link
G Smyd2 SET and MYND domain containing 2 ISO RGD PMID:23200123 RGD:7242632 NCBI chr13:101,425,270...101,466,576
Ensembl chr13:101,425,273...101,466,576
JBrowse link
G Smyd3 SET and MYND domain containing 3 ISO RGD PMID:23200123 RGD:7242632 NCBI chr13:90,709,263...91,266,209
Ensembl chr13:90,709,270...91,266,253
JBrowse link
G Spin1 spindlin 1 ISO RGD PMID:24035451 RGD:9479148 NCBI chr17:14,055,685...14,105,366
Ensembl chr17:14,055,689...14,105,411
JBrowse link
G Ssrp1 structure specific recognition protein 1 ISO RGD PMID:23288364 RGD:9068945 NCBI chr 3:70,124,371...70,134,481
Ensembl chr 3:70,118,655...70,134,482
JBrowse link
G Supt16h SPT16 homolog, facilitates chromatin remodeling subunit ISO RGD PMID:23288364 RGD:9068945 NCBI chr15:24,867,697...24,904,818
Ensembl chr15:24,866,489...24,904,846
JBrowse link
G Suv39h1 SUV39H1 histone lysine methyltransferase ISO RGD PMID:23200123 RGD:7242632 NCBI chr  X:14,421,028...14,433,993
Ensembl chr  X:14,421,109...14,433,982
JBrowse link
G Suv39h1-ps1 SUV39H1 histone lysine methyltransferase, pseudogene 1 ISO RGD PMID:23200123 RGD:7242632 NCBI chr  X:141,792,589...141,795,257 JBrowse link
G Suv39h2 SUV39H2 histone lysine methyltransferase ISO RGD PMID:23200123 RGD:7242632 NCBI chr17:74,756,290...74,775,332
Ensembl chr17:74,756,306...74,775,332
JBrowse link
G Suz12 SUZ12 polycomb repressive complex 2 subunit ISO RGD PMID:23473600 PMID:24148750 RGD:9479058, RGD:9479059 NCBI chr10:64,967,035...65,012,916
Ensembl chr10:64,966,967...65,012,738
JBrowse link
G Taf1 TATA-box binding protein associated factor 1 ISO RGD PMID:23642229 PMID:24686119 RGD:9479074, RGD:9479075 NCBI chr  X:66,640,915...66,716,543
Ensembl chr  X:66,640,982...66,716,543
JBrowse link
G Tdrd3 tudor domain containing 3 ISO RGD PMID:24035451 PMID:23211769 RGD:9479148, RGD:9479163 NCBI chr15:63,340,531...63,497,208
Ensembl chr15:63,341,235...63,476,110
JBrowse link
G Tp53bp1 tumor protein p53 binding protein 1 ISO RGD PMID:24035451 PMID:23642229 RGD:9479148, RGD:9479074 NCBI chr 3:108,166,574...108,270,229
Ensembl chr 3:108,169,980...108,269,822
JBrowse link
G Trim24 tripartite motif-containing 24 ISO RGD PMID:23642229 RGD:9479074 NCBI chr 4:66,567,342...66,692,029
Ensembl chr 4:66,566,686...66,717,241
JBrowse link
G Trim33 tripartite motif-containing 33 ISO RGD PMID:23642229 PMID:24686119 RGD:9479074, RGD:9479075 NCBI chr 2:190,812,329...190,892,663
Ensembl chr 2:190,807,243...190,888,814
JBrowse link
G Uhrf1 ubiquitin-like with PHD and ring finger domains 1 ISO RGD PMID:24035451 PMID:23642229 RGD:9479148, RGD:9479074 NCBI chr 9:1,133,117...1,154,639
Ensembl chr 9:1,134,909...1,154,631
JBrowse link
G Usp12 ubiquitin specific peptidase 12 ISO RGD PMID:24647359 RGD:9479061 NCBI chr12:8,309,845...8,363,686
Ensembl chr12:8,309,750...8,363,656
JBrowse link
G Usp16 ubiquitin specific peptidase 16 ISO RGD PMID:24647359 RGD:9479061 NCBI chr11:26,681,359...26,711,313
Ensembl chr11:26,681,414...26,710,539
JBrowse link
G Usp21 ubiquitin specific peptidase 21 ISO RGD PMID:24647359 RGD:9479061 NCBI chr13:83,702,672...83,709,215
Ensembl chr13:83,702,631...83,708,717
JBrowse link
G Usp22 ubiquitin specific peptidase 22 ISO RGD PMID:24647359 RGD:9479061 NCBI chr10:45,828,619...45,855,468
Ensembl chr10:45,828,622...45,855,497
JBrowse link
G Usp3 ubiquitin specific peptidase 3 ISO RGD PMID:24647359 RGD:9479061 NCBI chr 8:67,078,249...67,154,109
Ensembl chr 8:67,079,927...67,154,111
JBrowse link
G Usp44 ubiquitin specific peptidase 44 ISO RGD PMID:24647359 RGD:9479061 NCBI chr 7:28,364,169...28,412,039
Ensembl chr 7:28,364,033...28,410,053
JBrowse link
G Uty ubiquitously transcribed tetratricopeptide repeat containing, Y-linked ISO RGD PMID:22663077 PMID:23200123 RGD:9479053, RGD:7242632 NCBI chr  Y:942,838...1,105,313
Ensembl chr  Y:924,168...1,103,422
JBrowse link
G Wdr5 WD repeat domain 5 ISO RGD PMID:22663077 PMID:23642229 RGD:9479053, RGD:9479074 NCBI chr 3:10,836,964...10,856,682
Ensembl chr 3:10,837,025...10,856,671
JBrowse link
G Wdr82 WD repeat domain 82 ISO RGD PMID:22663077 RGD:9479053 NCBI chr 8:106,814,569...106,834,535
Ensembl chr 8:106,814,569...106,834,438
JBrowse link
G Ywhaz tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta ISO RGD PMID:23642229 RGD:9479074 NCBI chr 7:67,941,353...67,963,651
Ensembl chr 7:67,940,017...67,963,668
JBrowse link

Pathway Gene Annotations

Disease Annotations Associated with Genes in the histone modification pathway
Disease TermsGene Symbols
3-Hydroxy-3-Methylglutaryl-CoA Lyase DeficiencyKdm1a
3p deletion syndromeHdac11 , Kat2b
46,XY sex reversal 5Cbx2
abdominal aortic aneurysmEzh2
abdominal obesity-metabolic syndromeSirt3
Abnormal ReflexesKdm5c
acanthosis nigricansPrmt7
acute biphenotypic leukemiaDot1l
Acute ErythroleukemiaKmt2a
acute kidney failureHdac2 , Hdac3 , Hdac5 , Sirt1
Acute Lung InjurySirt2
acute lymphoblastic leukemiaCrebbp , Ehmt1 , Ehmt2 , Ezh2 , Hdac1 , Hdac2 , Hdac4 , Kdm2b , Kdm3b , Kdm6a , Kmt2a , Uty
acute megakaryocytic leukemiaBirc5 , Ezh2
acute monocytic leukemiaKmt2a
acute myeloid leukemiaBmi1 , Brd4 , Brd7 , Crebbp , Ehmt2 , Ezh2 , Kat6a , Kmt2a , Kmt2b , Kmt2c , Nsd1
acute myelomonocytic leukemiaKmt2a
acute necrotizing pancreatitisBirc5
acute pancreatitisBirc5 , Bmi1
acute promyelocytic leukemiaBirc5 , Kmt2e
Adams-Oliver Syndrome 5Ehmt1
adenocarcinomaBirc5 , Hdac3 , Kmt2a , Kmt2c
adenoid cystic carcinomaBap1 , Brd1 , Crebbp , Ep300 , Jmjd1c , Kat6a , Kdm6a , Kdm6b , Kmt2c , Nsd1 , Setd2 , Smarca2 , Uhrf1
adenomaMen1 , Suz12
adenylosuccinase lyase deficiencyCbx6 , Cbx7 , Ep300
adjustment disorderHdac5
adrenal cortical adenomaMen1
adrenocortical carcinomaBap1 , Birc5 , Daxx , H3f3a , Kmt2a , Men1 , Smarca4
adrenoleukodystrophyBrcc3 , Hcfc1
adult T-cell leukemia/lymphomaBirc5
Agenesis of Corpus CallosumCrebbp , Ep300 , Setd2
Aicardi-Goutieres syndromeKat5
Aicardi-Goutieres Syndrome 3Kat5 , Kdm2a , Kmt5b
alcohol use disorderCrebbp , Ep300 , Hdac2
alopeciaBrd4
alopecia areataEhmt2 , Hdac1 , Hdac2 , Hdac7 , Kdm1a , Kdm4a , Kdm4b , Kdm4c , Kdm5a
alpha-mannosidosisCarm1 , Smarca4
Alzheimer's diseaseBptf , Crebbp , Ep300 , Hdac2 , Sirt1 , Sirt3
amenorrheaChaf1a , Sirt6 , Smyd3
amphetamine abuseHdac8 , Prdm2 , Smyd3
amyotrophic lateral sclerosisBptf , Hdac4 , Sirt1 , Smarca4
amyotrophic lateral sclerosis type 1Chaf1b , Crebbp
Anadysplasia-Like, Spontaneously Remitting Spondylometaphyseal DysplasiaLbr
AnaphylaxisHdac3
androgen insensitivity syndromeKat7
AngiofibromaMen1
Animal Mammary NeoplasmsH3f3b , Ywhaz
ankylosing spondylitisKdm5a
anxiety disorderHdac2 , Kdm3b
aortic aneurysmHdac4
aortic valve stenosisJarid2
appendiceal neoplasmDaxx , Nap1l1
ArachnodactylyKat6b
Arboleda-Tham syndromeKat6a
Arnold-Chiari MalformationSmarca2
asphyxiating thoracic dystrophyLbr
asphyxiating thoracic dystrophy 1Lbr
asthmaCarm1 , Hdac2 , Prmt1 , Prmt2 , Prmt5
ataxia telangiectasiaHdac4 , Kdm4d
atherosclerosisHdac4 , Hdac9 , Sirt1
Atkin SyndromeKdm5c
atrial fibrillationDpf3 , Kdm1b , Sirt1 , Usp3
atrial heart septal defectCrebbp , Hdac8 , Smarca4
Au-Kline SyndromeCrebbp
Auriculocondylar Syndrome 4Hdac9
autism spectrum disorderAsh1l , Brd1 , Crebbp , Eed , Hdac10 , Hira , Jarid2 , Jmjd1c , Kat6a , Kdm3b , Kdm5b , Kdm6a , Kmt2a , Kmt2b , Kmt2c , Kmt2d , Kmt2e , Kmt5b , Pagr1 , Phf2 , Setd2 , Sgf29 , Smarca2 , Taf1
autistic disorderAsf1a , Bptf , Brcc3 , Chd1 , Ehmt1 , Hcfc1 , Hdac6 , Hdac8 , Hira , Jarid2 , Jmjd1c , Kdm4c , Kdm5c , Kdm5d , Kdm6a , Kmt2a , Kmt2b , Kmt2c , Kmt2e , Nsd1 , Pagr1 , Paxip1 , Phf8 , Prmt2 , Prmt6 , Rbbp5 , Rbbp7 , Setd1a , Setd2 , Setdb1 , Smarca4 , Suv39h1 , Suv39h1-ps1 , Taf1 , Uty
autoimmune diseaseSirt1
autoimmune interstitial lung, joint, and kidney diseaseUsp21
Autoinflammation with Infantile EnterocolitisDpy30
autosomal dominant cerebellar ataxiaEp300
autosomal dominant dyskeratosis congenita 1Phc3
autosomal dominant dyskeratosis congenita 6Prmt7
autosomal dominant intellectual developmental disorderJarid2
autosomal dominant intellectual developmental disorder 26Kmt2d
autosomal dominant intellectual developmental disorder 31Kdm3b
autosomal dominant intellectual developmental disorder 40Kmt2e
autosomal dominant intellectual developmental disorder 5Daxx , Phf1 , Ring1
autosomal dominant intellectual developmental disorder 51Kmt5b
autosomal dominant intellectual developmental disorder 52Ash1l
Autosomal Dominant Intellectual Developmental Disorder 65Kdm4b
Autosomal Dominant Intellectual Developmental Disorder 68Kmt2b
autosomal dominant intellectual developmental disorder 7Chaf1b
Autosomal Dominant Intellectual Developmental Disorder 70Jmjd1c , Setd2 , Sirt1
autosomal dominant intellectual developmental disorder 8Ehmt1
autosomal dominant polycystic kidney diseaseBrd4
autosomal recessive intellectual developmental disorder 65Kdm5b
Axenfeld-Rieger syndrome type 3Prmt2
azoospermiaBrdt
B-cell lymphomaBrd2 , Cbx7 , Ezh2 , Kat5
B-lymphoblastic leukemia/lymphomaBrd2
Bardet-Biedl syndromeKat5 , Men1
Barth syndromeBrcc3 , Hcfc1
basal cell carcinomaBap1
Beckwith-Wiedemann syndromeNsd1
benign familial infantile epilepsyJmjd1c
Bethlem Myopathy 1AHdac4
bilateral breast cancerSmarca4
Binge DrinkingSirt1
bipolar disorderBrd1 , Hdac5 , Kat6b
bladder exstrophy-epispadias-cloacal exstrophy complexKdm5b
bladder urothelial carcinomaBirc5 , Kdm6a
blepharophimosisKat6b , Smarca2
blepharophimosis-impaired intellectual development syndromeSmarca2
Bloom syndromeTp53bp1 , Usp3
body dysmorphic disorderHdac2
bone giant cell tumorH3f3a
Bone Marrow Failure Syndrome 4Mysm1
Bone NeoplasmsBap1
brachydactylyHdac4 , Prmt7
brachydactyly type E1Hdac4
Brachydactyly, Type EHdac4
brain gliomaBirc5
Brain HypoxiaEp300
Brain Hypoxia-IschemiaDaxx , Hdac3
brain infarctionSirt1
Brain InjuriesBirc5 , Sirt1
Brain NeoplasmsH3f3a , Sirt1
brain small vessel disease 1Kat6b
Brain-Lung-Thyroid SyndromePrmt5 , Supt16h
branched-chain keto acid dehydrogenase kinase deficiencyKat8 , Setd1a
BRANCHIAL ARCH ABNORMALITIES, CHOANAL ATRESIA, ATHELIA, HEARING LOSS, AND HYPOTHYROIDISM SYNDROMEKmt2d
breast cancerAsf1b , Cbx7 , Kat2b , Kat5 , Kat6b , Kat7 , Kat8 , Kdm1a , Kdm3b , Kdm4a , Kdm4b , Kdm4c , Kdm5a , Kdm5b , Kdm5c , Kdm6a , Kdm8 , Kmt2b , Kmt2d , Kmt2e , L3mbtl1 , Mcph1 , Ncoa6 , Smarca4
breast carcinomaBirc5 , Cbx7 , Ep300 , Hdac1 , Kdm6b , Kmt2d , Mdc1
Breast NeoplasmsBap1 , Birc5 , Brf1 , Ep300 , Ezh2 , H2ax , Kat6a , Kdm4c , Kdm5b , Kmt2d , Mcph1 , Setd2 , Sirt1 , Tp53bp1 , Uty
bronchitisHdac2
Brugada syndrome 5Kmt2b
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1H3f3a
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2H3f3b
Burkitt lymphomaSmarca4
CAKUTKat6b , Kmt2d
Carcinoid TumorMen1
carcinomaH3f3b , Ywhaz
cardiac amyloidosisCrebbp
cardiac arrestEp300
Cardiac FibrosisHira
CardiomegalyBrf1 , Ep300 , Hdac2 , Hdac8 , Kat8 , Kdm4a , Sirt1 , Sirt4 , Sirt6
cardiomyopathyEp300 , Ncoa6
CardiotoxicitySirt6
Carotid Artery InjuriesHdac4
Carotid AtherosclerosisKmt2d , Sirt1
castration-resistant prostate carcinomaAsf1b , Chd1 , Kdm1a , Trim24
cavernous sinus meningiomaKmt2d
CD3epsilon deficiencyH2ax , Kmt2a
CD8 Deficiency, FamilialKdm3a
Central Nervous System NeoplasmsBap1
cerebellar hypoplasiaSetd2
cerebellofaciodental syndromeBrf1
cerebral creatine deficiency syndrome 1Brcc3 , Hcfc1
Cerebral HemorrhageKat6b
cerebral palsySmarca4 , Suz12
cervical cancerKdm3a , Kmt2a , Kmt2e , Mdc1
cervix uteri carcinoma in situHdac1 , Hdac2 , Hdac6
Charcot-Marie-Tooth disease axonal type 2OBrf1
Charcot-Marie-Tooth disease dominant intermediate BCarm1 , Smarca4
Charcot-Marie-Tooth disease dominant intermediate CKdm4a , Nasp , Phc2
Charcot-Marie-Tooth disease type 1Jmjd1c
Charcot-Marie-Tooth disease type 2Ash1l
CHARGE syndromeEp300 , Kdm6a , Kmt2d
Chemical and Drug Induced Liver InjuryBrd4 , H2ax , Sgf29
cherubismPcgf3
childhood absence epilepsyYwhaz
childhood acute megakaryoblastic leukemiaSetd2
choanal atresiaKmt2d
cholangiocarcinomaBap1 , Ezh2 , Hdac6 , Kmt2c , Pbrm1
cholestasisKmt2b
chondroblastomaH3f3b
chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmiaHdac6
choroid plexus carcinomaNsd1
chromophobe renal cell carcinomaBirc5
Chromosome 11, Partial Trisomy 11qH2ax , Kmt2a
chromosome 13q14 deletion syndromeTdrd3
chromosome 16p11.2 deletion syndrome, 593-kbPagr1
chromosome 16p11.2 duplication syndromePagr1
chromosome 1p36 deletion syndromePrdm16 , Prdm2
chromosome 22q11.2 deletion syndrome, distalHira
chromosome 22q11.2 microduplication syndromeHira
chromosome 22q13 duplication syndromeHdac10
chromosome 2q37 deletion syndromeHdac4
Chromosome 5, Trisomy 5qNsd1
chromosome 9p deletion syndromeKdm4c , Smarca2
Chromosome AberrationsKmt2a
Chromosome BreakageEhmt2 , Ezh2 , H2ax , Suv39h1 , Suv39h1-ps1
chronic myeloid leukemiaBirc5 , Ezh2
chronic myelomonocytic leukemiaEzh2 , Kdm6a
chronic obstructive pulmonary diseaseHdac2 , Hdac8
Chronic PancreatitisBmi1 , Rnf2
clear cell adenocarcinomaCbx7 , Daxx
clear cell renal cell carcinomaBap1 , Birc5 , Ep300 , Kat8 , Pbrm1 , Setd2
cleft palatePrmt1 , Smarca4
Cleft Palate, Psychomotor Retardation, and Distinctive Facial FeaturesKdm1a
cocaine dependenceSirt1 , Sirt2
Cocaine-Related DisordersEhmt2 , Hdac4 , Hdac5 , Prmt6 , Smarca4
Coffin-Siris syndromeKdm8 , Smarca2 , Smarca4
Coffin-Siris syndrome 1Smarca2 , Smarca4
Coffin-Siris syndrome 4Smarca4
cognitive disorderHdac2 , Setd7
Cohen syndromeYwhaz
Cohen-Gibson SyndromeEed
colitisSirt1
colon adenocarcinomaDaxx , Kdm6a
colon cancerBrd4 , Chaf1a , Ezh2 , Kdm3a , Kdm5c , Ncoa6
colon carcinomaEp300 , Kmt2d
Colonic NeoplasmsBap1 , Birc5 , Brd4 , Hdac2 , Kdm1a , Kdm5b , Men1 , Tp53bp1 , Uhrf1
Colonic PolypsHdac2
colorectal adenocarcinomaEzh2 , Kmt2b
colorectal adenomaEzh2
colorectal cancerBirc5 , Brf1 , Ep300 , Ezh2 , Hdac1 , Hdac3 , Hdac5 , Hdac7 , Kdm3b , Kdm4b , Kdm5c , Kdm6a , Pbrm1 , Setd2 , Tp53bp1 , Usp3
colorectal carcinomaBmi1 , Brd7 , Cbx7 , Ep300 , Ezh2
Colorectal NeoplasmsBirc5 , Cbx5 , Chd1 , Crebbp , Dot1l , Ehmt2 , Ep300 , Kdm2a , Kdm4b , Kdm5b , Nap1l1
combined cellular and humoral immune defects with granulomasRag2
common variable immunodeficiencyKdm6b , Rag2
common variable immunodeficiency 4Ep300
Complement Component C1s DeficiencyKmt2d
cone-rod dystrophy 13Supt16h
congenital diaphragmatic herniaBap1 , Ep300
congenital disorder of glycosylation IaaAsf1a
congenital disorder of glycosylation IgBrd1 , Hdac10
congenital disorder of glycosylation InBap1 , Pbrm1 , Wdr82
congenital disorder of glycosylation type IIbPcgf1
congenital disorder of glycosylation type IImHdac6 , Suv39h1 , Suv39h1-ps1
congenital heart diseasePrdm6 , Taf1 , Wdr5
Congenital Lower Urinary Tract ObstructionPrdm6
congenital myopathy 5Bap1
Congenital Upper Extremity DeformitiesEzh2
congestive heart failureBirc5 , Ep300 , Ezh2 , Kat8 , Kdm2a , Sirt1 , Sirt3
connective tissue diseaseLbr
contact dermatitisHdac4
ContracturePrdm2
Cornelia de Lange syndromeBrd4
Cornelia de Lange syndrome 1Brd4 , Hdac8 , Kmt2a
Cornelia de Lange syndrome 2Kdm5c , Phf8
Cornelia de Lange syndrome 5Hdac8
Cornelia de Lange Syndrome 6Brd4
coronary artery diseasePrdm16
Coronary DiseaseKat2b
coronin-1A deficiencyPagr1
cortical dysplasia-focal epilepsy syndromeEzh2
COVID-19Birc5 , Ezh2 , Hjurp , Orc1 , Pcgf5 , Prdm8
Craniofacial AbnormalitiesEp300
craniosynostosisEzh2 , Kat6b
Craniosynostosis Syndrome, Autosomal RecessiveKat6a
Critical IllnessKdm1a
Crohn's diseasePbrm1
cryptorchidismKat6b , Kdm5a
D-2-hydroxyglutaric aciduria 1Hdac4
Dandy-Walker syndromeKmt2d , Setd2
DehydrationYwhaz
demyelinating diseaseHdac1 , Sirt1
depressive disorderHdac5
descending colon cancerKdm5c
developmental and epileptic encephalopathyNasp
developmental and epileptic encephalopathy 12Prmt1
developmental and epileptic encephalopathy 14Brd3 , Ehmt1 , Wdr5
developmental and epileptic encephalopathy 18Ep300
developmental and epileptic encephalopathy 54Smyd3
developmental and epileptic encephalopathy 66Brf1
developmental and epileptic encephalopathy 92Kmt2c
DEVELOPMENTAL DELAY WITH VARIABLE INTELLECTUAL DISABILITY AND DYSMORPHIC FACIESJarid2
Developmental DisabilitiesAsh1l , Ash2l , Bptf , Chaf1b , Crebbp , Ehmt1 , H3f3a , H3f3b , Hdac8 , Kat6a , Kat6b , Kdm1a , Kdm2b , Kdm3b , Kdm6a , Kmt2b , Kmt2c , Kmt2e , Kmt5b , Mcph1 , Pcgf2 , Setd1b , Smarca4 , Suz12
Developmental DiseaseAsh1l , Brd4 , Dot1l , Kat6b , Kdm3b , Kdm4b , Kdm5b , Kdm5c , Kdm6b , Kmt2a , Setd1a , Setd2 , Smarca2 , Suz12
dextrocardiaSupt16h
Diabetes ComplicationsHdac4
diabetes mellitusSirt1
Diabetic NephropathiesEp300 , Hdac2 , Hdac4 , Hdac5 , Kdm6a , Prmt1
diabetic retinopathyEp300 , Kdm1a , Mysm1 , Sgf29 , Sirt1
Diamond-Blackfan anemiaKdm6b , Suv39h1 , Suv39h1-ps1
Diets-Jongmans SyndromeKdm3b
diffuse large B-cell lymphomaCrebbp , Ezh2 , Kmt2d , Prmt5
diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtypeKdm5b
DiGeorge syndromeHira , Kat6a
dilated cardiomyopathyHdac6 , Ncoa6 , Prdm16
dilated cardiomyopathy 1ADot1l
dilated cardiomyopathy 1LLPrdm16
Dilated Cardiomyopathy with Left Ventricular NoncompactionPrdm16
disease of cellular proliferationKdm6a
disease of mental healthBrd4
Disease ProgressionBmi1 , Hdac3 , Hdac6 , Kdm1a
disorder of sexual developmentCbx2
drug-induced hearing lossSirt3
ductal carcinoma in situBirc5
duodenal gastrinomaMen1
DwarfismBrd4 , Ep300 , H2ax , Kmt2a , Mcph1 , Orc1 , Prmt7
DysarthriaKmt2b
dyskeratosis congenitaBrcc3 , Hcfc1 , Kdm6b
dystoniaKmt2b , Pcgf1
dystonia 28 childhood-onsetKmt2b
early infantile epileptic encephalopathyNasp
early myoclonic encephalopathyJmjd1c
early-onset epilepsy 2Setd1a
eating disorderHdac4
eccrine porocarcinomaKmt2d
Ehlers-Danlos syndrome classic type 1Brd3 , Wdr5
Ehlers-Danlos syndrome dermatosparaxis typeNsd1
Ehlers-Danlos syndrome spondylodysplastic type 2Nsd1 , Prdm16
embryonal rhabdomyosarcomaSetd2
Emery-Dreifuss muscular dystrophyBrcc3 , Hcfc1
EmphysemaHdac2
endometrial cancerMcph1
endometrial carcinomaHdac3
endometrial hyperplasiaBirc5
Endometrial NeoplasmsBirc5 , Ep300 , Ezh2 , Hdac1 , Hdac2 , Suz12
Endometrioid CarcinomasBirc5 , Daxx
endometriosisBirc5 , Ezh2 , Hdac1 , Hdac2 , Hdac3 , Ncoa6
endomyocardial fibrosisSirt4 , Sirt6
EndotoxemiaEp300
Enteropathy-Associated T-Cell LymphomaSetd2
EosinophiliaRag2
epilepsyAsf1a , Ash1l , Crebbp , Ehmt1 , Hira , Kat6b , Kdm3b , Kdm5a , Kdm5c , Kdm6b , Kmt2d , Kmt2e , Nsd1 , Setd1a , Setd1b , Setd2 , Sirt1 , Smarca4
episodic ataxia type 2Carm1 , Smarca4
episodic kinesigenic dyskinesia 1Pagr1
esophageal carcinomaEp300
Esophageal NeoplasmsSmyd2
esophagus squamous cell carcinomaBmi1 , Cbx8 , Crebbp , Ehmt1 , Ehmt2 , Ep300 , Ezh2 , Kat2b , Kdm4c , Kdm5b , Kdm6a , Kmt2c , Kmt2d , Pagr1 , Uty
estrogen-receptor positive breast cancerCarm1
Ewing sarcomaBap1 , Kdm3a
Experimental ArthritisHdac6 , Rag2
Experimental Autoimmune EncephalomyelitisSirt1
Experimental Autoimmune MyocarditisSirt1
Experimental ColitisEzh2
Experimental Diabetes MellitusEp300 , Ezh2 , Hdac1 , Hdac2 , Hdac4 , Kdm6a , Kmt5c , Sirt1 , Smarca4
Experimental LeukemiaCbx7
Experimental Liver CirrhosisBirc5 , Sirt1 , Trim24 , Ywhaz
Experimental Liver NeoplasmsBirc5 , Hat1 , Kat6a
Experimental Mammary NeoplasmsH2ax , H3f3b , Ywhaz
Experimental MelanomaKdm1a , Kdm4c
Experimental NeoplasmsHdac6
extrahepatic bile duct adenocarcinomaBap1 , Pbrm1
extrahepatic cholestasisSetd7
exudative vitreoretinopathy 1Eed
Facial AsymmetrySmarca4
familial adenomatous polyposisHdac2
familial adenomatous polyposis 1Chd1 , Hdac3 , Kdm3b , Macroh2a1 , Prdm6
familial adult myoclonic epilepsy 5Kdm5b , Rbbp5
Familial Amyloid PolyneuropathiesCrebbp
familial cold autoinflammatory syndrome 4Dpy30
familial hypercholesterolemiaCarm1 , Smarca4
familial hyperlipidemiaPrmt7
familial hypertrophic cardiomyopathyPrdm16
familial melanomaBap1
Familial Prostate CancerKdm2a
Fanconi syndromePhc3
favismBrcc3 , Hcfc1
Female InfertilityNasp
fetal alcohol spectrum disorderEhmt2 , Hdac2 , Hdac4 , Setd7
Fetal Growth RetardationHdac1 , Hdac2 , Orc1
FG Syndrome 1Taf1
fibromaBrf1
FibrosisHdac3 , Hdac4 , Sirt1 , Sirt6
focal epilepsyL3mbtl1
focal segmental glomerulosclerosis 5Brf1
follicular lymphomaCrebbp , Ezh2 , Kmt2d
Follicular Thyroid CancerCbx7
frontometaphyseal dysplasiaHcfc1
gangliogliomaBap1
gastric adenocarcinomaCrebbp , Kmt2d
gastrinomaMen1
Gastro-Enteropancreatic Neuroendocrine TumorDaxx
gastrointestinal lymphomaKmt2d
Gastrointestinal Motility DisordersHdac8
gastrointestinal stromal tumorAsh1l , H3f3a , Kdm5b , Lbr , Men1 , Rbbp5 , Rnf2 , Setd2 , Setdb1 , Smyd2 , Smyd3 , Usp21
Generalized EpilepsyPrmt7
generalized epilepsy with febrile seizures plus 9Setd1a
genetic diseaseAebp2 , Aplf , Asf1a , Asf1b , Ash1l , Ash2l , Bap1 , Birc5 , Bptf , Brd1 , Brd2 , Brd3 , Brd4 , Brd7 , Brdt , Brf1 , Carm1 , Cbx2 , Cbx4 , Cbx6 , Cbx7 , Cbx8 , Chaf1a , Chaf1b , Chd1 , Crebbp , Cxxc1 , Daxx , Dot1l , Dpf3 , Eed , Ehmt1 , Ehmt2 , Ep300 , Ezh1 , Ezh2 , H3f3a , H3f3b , Hat1 , Hcfc1 , Hdac1 , Hdac10 , Hdac11 , Hdac2 , Hdac3 , Hdac4 , Hdac5 , Hdac6 , Hdac7 , Hdac8 , Hdac9 , Hira , Hjurp , Ing2 , Jarid2 , Jmjd1c , Kat2a , Kat2b , Kat5 , Kat6a , Kat6b , Kat7 , Kat8 , Kdm1a , Kdm1b , Kdm2a , Kdm2b , Kdm3a , Kdm3b , Kdm4a , Kdm4b , Kdm4c , Kdm4d , Kdm5a , Kdm5b , Kdm5c , Kdm6a , Kdm6b , Kdm7a , Kdm8 , Kmt2a , Kmt2b , Kmt2c , Kmt2d , Kmt2e , Kmt5a , Kmt5b , Kmt5c , L3mbtl1 , Lbr , Macroh2a1 , Macroh2a2 , Mcph1 , Mdc1 , Men1 , Mtf2 , Mysm1 , Nap1l1 , Nasp , Ncoa6 , Nsd1 , Nsd3 , Orc1 , Pagr1 , Paxip1 , Pcgf1 , Pcgf2 , Pcgf3 , Pcgf5 , Pcgf6 , Phc1 , Phc2 , Phc3 , Phf1 , Phf19 , Phf2 , Phf8 , Prdm16 , Prdm2 , Prdm6 , Prdm8 , Prdm9 , Prmt1 , Prmt2 , Prmt5 , Prmt6 , Prmt7 , Rag2 , Rbbp4 , Rbbp5 , Rbbp7 , Ring1 , Rnf2 , Setd1a , Setd1b , Setd2 , Setd7 , Setdb1 , Sgf29 , Sirt1 , Sirt2 , Sirt3 , Sirt4 , Sirt5 , Sirt6 , Sirt7 , Smarca2 , Smarca4 , Smyd1 , Smyd2 , Smyd3 , Spin1 , Ssrp1 , Supt16h , Suv39h1 , Suv39h1-ps1 , Suv39h2 , Suz12 , Taf1 , Tdrd3 , Tp53bp1 , Trim24 , Trim33 , Uhrf1 , Usp12 , Usp16 , Usp21 , Usp22 , Usp3 , Usp44 , Uty , Wdr5 , Wdr82
Genetic Predisposition to DiseaseBap1
Genitopatellar SyndromeKat6b
Genomic InstabilitySirt1
Germ Cell and Embryonal NeoplasmsBirc5 , Phc1
gestational diabetesMen1 , Sirt3
GigantismNsd1
glaucomaCrebbp , Hdac1
glioblastomaBmi1 , Brd2 , Brd4 , Brd7 , Cbx6 , Cbx7 , Cbx8 , Chaf1b , Crebbp , Ezh2 , H2ax , H3f3a , Suz12 , Tp53bp1
glomerulonephritisEp300
GlucagonomaMen1
glucose intoleranceSirt1
glutaric acidemia ICarm1 , Smarca4
glycine encephalopathyKdm4c
glycogen storage disease IbH2ax , Kmt2a
glycogen storage disease VKat5 , Men1
Glycogen Storage Disease XIIPagr1
gonadal dysgenesisCbx2
Greenberg dysplasiaLbr
GRN-related frontotemporal lobar degeneration with TDP43 inclusionsHdac5
growth hormone secreting pituitary adenomaMen1
head and neck cancerKdm4c
Head and Neck NeoplasmsBap1
head and neck squamous cell carcinomaCrebbp , Ep300
heart diseaseEp300 , Hdac1 , Hdac3 , Sirt1
Heavy Metal ToxicityDaxx , Kdm3b
Hemorrhagic ShockSirt1
hepatitis BKat2a
hepatoblastomaEp300 , Jmjd1c , Nap1l1
hepatocellular adenomaCarm1
hepatocellular carcinomaAsf1b , Birc5 , Bmi1 , Carm1 , Cbx2 , Cbx4 , Cbx7 , Chaf1b , Crebbp , Ep300 , Ezh2 , Hdac2 , Hdac4 , Hjurp , Kat2b , Kdm1a , Kdm3a , Kdm5c , Kdm6a , Kdm8 , Kmt2a , Kmt2b , Kmt2c , Orc1 , Smarca4 , Trim24 , Uhrf1 , Ywhaz
Hereditary Angiopathy with Nephropathy, Aneurysms, and Muscle CrampsKat6b
hereditary breast ovarian cancer syndromeEed , Ep300 , Prdm9
Hereditary Neoplastic SyndromesBap1 , Brcc3 , Chd1 , Ezh2 , Hdac3 , Kdm3b , Macroh2a1 , Men1 , Nsd1 , Prdm6 , Smarca4
hereditary spastic paraplegia 30Hdac4
hereditary spastic paraplegia 4Dpy30
hereditary spastic paraplegia 47Trim33
hereditary spastic paraplegia 54Ash2l , Nsd3
hereditary spastic paraplegia 75Kmt2b
hereditary spastic paraplegia 8Nsd1
hiatus herniaPhf2
high grade gliomaBap1 , Birc5 , Bmi1 , Brd7 , Chaf1a , Chaf1b , H3f3a , Hdac3 , Kat6b , Kdm5b , Kmt2d , Men1 , Setdb1 , Sirt2 , Suv39h1 , Suv39h1-ps1 , Suz12
Hirschsprung Disease 1Crebbp
Hirschsprung's diseaseAebp2 , Bmi1 , Crebbp , Hdac8
HirsutismKdm5c , Kmt2a , Smarca2
histiocytic sarcomaRag2 , Suv39h2
Hittner Hirsch Kreh SyndromeEp300
holocarboxylase synthetase deficiencyChaf1b
holoprosencephaly 2Nsd1
holoprosencephaly 3Paxip1
human immunodeficiency virus infectious diseaseKmt2e , Sirt1
Huntington's diseaseCrebbp , Ep300 , Hdac1 , Hdac3 , Hdac7 , Kdm5c , Setdb1 , Sirt1
hydrocephalusSetd2
Hydrops FetalisNsd1 , Suz12
HyperalgesiaEp300 , Men1
hyperinsulinismBrd2
hyperparathyroidismMen1
Hyperparathyroidism 1Men1
Hyperparathyroidism 3Men1
Hyperphosphatemic Familial Tumoral Calcinosis 1Kdm5a , Phc1
HyperplasiaBrd4 , Kdm1a
HypertelorismNsd1
hypertensionEp300 , H2ax , Hdac6 , Hdac8 , Sirt6 , Ywhaz
Hypertensive NephropathySirt6
hypertrophic cardiomyopathyKat8 , Usp3
HypertrophySirt1
HypoalgesiaHdac4
hypogonadotropic hypogonadism 2 with or without anosmiaAsh2l , Nsd3
Hypokalemic Periodic Paralysis, Type 1Kdm5b , Rbbp5
hypoparathyroidism-deafness-renal disease syndromeSuv39h2
hypospadiasKat6b
HypoxiaKdm3a , Nap1l1
ichthyosis vulgarisLbr
idiopathic generalized epilepsyCrebbp
idiopathic pulmonary fibrosisBrd4 , Ehmt2 , Ep300 , Setd2
idiopathic scoliosisPrmt5
IMAGAWA-MATSUMOTO SYNDROMESuz12
immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndromeHdac6 , Suv39h1 , Suv39h1-ps1
Immunodeficiency 104Rag2
IMMUNODEFICIENCY 15Kat6a
immunodeficiency 15BKat6a
immunodeficiency 16Prdm16
immunodeficiency 17H2ax , Kmt2a
immunodeficiency 18H2ax , Kmt2a
immunodeficiency 19H2ax , Kmt2a
immunodeficiency 33Brcc3 , Hcfc1
immunodeficiency 38Prdm16
immunodeficiency 39Sirt3
immunodeficiency 42Ash1l , Setdb1
immunodeficiency 51Hira
impotenceHdac3 , Hdac4 , Sirt1
infertilityEhmt2
inflammatory bowel disease 28H2ax , Kmt2a
inherited metabolic disorderHcfc1
Insulin ResistancePrmt7 , Sirt1 , Sirt4
insulinomaMen1
Intellectual Developmental Disorder with Seizures and Language DelaySetd1b
intellectual disabilityAsf1a , Ash1l , Bptf , Brd1 , Brd4 , Brf1 , Crebbp , Cxxc1 , Dpf3 , Eed , Ehmt1 , Ep300 , Hcfc1 , Hdac10 , Hdac4 , Hdac8 , Hira , Jarid2 , Kat5 , Kat6a , Kat6b , Kdm1a , Kdm2a , Kdm4d , Kdm5a , Kdm5b , Kdm5c , Kdm6a , Kdm6b , Kmt2a , Kmt2b , Kmt2c , Kmt2d , Kmt5b , Mcph1 , Men1 , Nsd1 , Pcgf2 , Phc1 , Phf8 , Prmt7 , Rag2 , Setd1a , Setd2 , Smarca2 , Smarca4 , Ssrp1 , Taf1
intermittent claudicationSirt2
Intervertebral Disc DisplacementKmt2d
Intestinal Carcinoid TumorsNap1l1
intestinal volvulusHdac8
intracranial aneurysmKmt2d
intrahepatic cholangiocarcinomaBap1 , Kdm5c , Pbrm1
intrahepatic cholestasis of pregnancyHdac3
invasive ductal carcinomaEzh2
iron deficiency anemiaKat5
islet cell tumorDaxx
isolated microphthalmia 5H2ax , Kmt2a
Joubert syndrome 1Ehmt1
Joubert syndrome 22Hjurp
Joubert syndrome 25Prdm16
Juberg Hayward SyndromeHcfc1
juvenile myelomonocytic leukemiaEzh2
juvenile myoclonic epilepsyBrd2
juvenile rheumatoid arthritisJmjd1c , Kat6b
Kabuki syndromeKdm6a , Kmt2d
Kabuki Syndrome 1Hcfc1 , Kdm6a , Kmt2a , Kmt2b , Kmt2d
Kabuki Syndrome 2Kdm6a
Kaposi's sarcomaBptf
KBG syndromeKat6b
Kidney NeoplasmsBap1 , Birc5
Kidney Reperfusion InjuryBmi1 , Daxx , Eed , Ep300 , Ezh2 , H2ax , Kmt2a , Sirt1 , Suz12
Klatskin's tumorKmt2c
Kleefstra syndromeEhmt1
Kleefstra syndrome 1Brd3 , Ehmt1 , Kmt2c , Wdr5
Kleefstra syndrome 2Kmt2c
Kohlschutter-Tonz syndromeCrebbp
KURY-ISIDOR SYNDROMEBap1
Language Development DisordersKmt5b
language disorderKmt2a
laryngeal carcinomaKmt2c
Left Ventricular HypertrophyBrd4 , Ezh2 , Pbrm1 , Sirt1 , Sirt6 , Smarca4
left ventricular noncompactionPrdm16
Leigh diseaseBrd3 , Wdr5
leiomyomaEzh2 , Kat6b
lethal congenital glycogen storage disease of heartKmt2c
leukemiaBap1 , Daxx , Kmt2a , Kmt2e , Setd2
leukocyte adhesion deficiency 3Men1
leukodystrophyMen1
LeukoencephalopathiesKmt2e
Leydig cell tumorPrmt5
Li-Fraumeni syndromeKdm6b
LI-GHORBANI-WEISZ-HUBSHMAN SYNDROMEKat8
lipomaBap1 , Men1
liver benign neoplasmCbx7 , H2ax , Kmt5c
liver cancerSetd2
liver cirrhosisHdac2
Liver InjurySirt1
Liver MetastasisDaxx
Liver NeoplasmsAsh1l , Bap1 , Hcfc1
Liver Reperfusion InjuryH2ax , Sirt1
long QT syndromeKmt2c , Ncoa6 , Sirt6
long QT syndrome 10H2ax , Kmt2a
lung adenocarcinomaBap1 , Birc5 , Cbx5 , Cbx7 , Crebbp , Dot1l , Ehmt2 , Ep300 , Ezh2 , Kmt2c , Setd2
lung cancerEzh2 , Kdm4a , Kdm4b , Kdm6a , Kmt2d , Ncoa6 , Setdb1
Lung Carcinoid TumorsMen1
lung carcinomaMdc1
Lung InjurySirt1
lung metastasisPagr1
Lung NeoplasmsBap1 , Birc5 , Cbx5 , Cbx7 , Ehmt2
lung non-small cell carcinomaBirc5 , Brd7 , Ezh2 , Hdac3 , Kat2a , Kdm1a , Kdm2a , Kdm3b , Kdm5a , Kdm6a , Kmt2c , Kmt2d , Pbrm1 , Smarca4 , Tp53bp1
lung non-squamous non-small cell carcinomaDaxx
Lung Reperfusion InjuryCrebbp
lung small cell carcinomaCrebbp , Ep300 , Kdm6a , Kmt2a , Kmt2d , Pbrm1 , Smarca4
lung squamous cell carcinomaBirc5 , Crebbp , Ep300 , Kmt2d
Luo-Schoch-Yamamoto syndromeRnf2
Luscan-Lumish SyndromeSetd2
Lymphatic Malformation 10Mcph1
Lymphatic MetastasisBirc5 , Brd7 , Ehmt2 , Kmt2d , Pagr1 , Tp53bp1
lymphoid leukemiaKmt2a
lymphomaEzh2 , Kmt2d
lymphopeniaLbr , Mysm1
lysinuric protein intolerancePrmt5
macular degenerationSirt1
Maffucci syndromeKdm4c
male infertilityKmt2d
malignant astrocytomaBrd7
Malignant Granular Cell TumorBrd7
malignant mesotheliomaBap1 , Hdac4 , Kat5 , Setd2 , Setdb1 , Smarca2
malignant peripheral nerve sheath tumorKdm4b
malignant pleural mesotheliomaBap1 , Birc5 , Ezh2 , Kdm6a , Setd2
Marfanoid Mental Retardation Syndrome, AutosomalCrebbp , Ehmt1 , Nsd1 , Taf1
maturity-onset diabetes of the young type 1Sirt2
medulloblastomaBap1 , Brd2 , Brd3 , Brd4 , Crebbp , Ehmt1 , Ep300 , Kat6a , Kdm4b , Kdm4c , Prmt5 , Smarca4
megacolonHira , Kmt2c , Mdc1
Meier-Gorlin syndromeOrc1
Meier-Gorlin syndrome 1Orc1
melanomaAsf1a , Brd2 , Brd4 , Crebbp , Ehmt2 , Ep300 , Hdac2 , Hdac3 , Hdac6 , Kdm1a , Kdm4a , Kdm4b , Kdm4c , Kdm7a , Setdb1 , Suz12
Melnick-Needles syndromeHcfc1
membranoproliferative glomerulonephritisEp300
Memory DisordersChd1 , Hdac2
meningiomaBap1 , Kmt2d
Menke-Hennekam SyndromeCrebbp
Menke-Hennekam Syndrome 1Crebbp
Menke-Hennekam Syndrome 2Ep300
Mental Retardation, Autosomal Recessive 53Pcgf3
MesotheliomaBap1 , Birc5
metabolic dysfunction-associated steatotic liver diseaseEzh2 , Rag2 , Sirt1 , Sirt2 , Sirt3 , Sirt4 , Sirt6
Metabolic SyndromeHdac3 , Sirt1
metachromatic leukodystrophyBrd1 , Hcfc1 , Hdac10
MetaplasiaRag2
methylmalonic acidemia and homocysteinemia cblX typeHcfc1
methylmalonic aciduria and homocystinuria type cblCHcfc1
Methylmalonyl-CoA Epimerase DeficiencyPcgf1
MHC class II deficiencyAsh1l , Setdb1
microcephalyAsf1a , Bptf , Brd4 , Ep300 , Hdac4 , Jarid2 , Kmt2a , Kmt2c , Kmt2d , Mcph1 , Nsd1 , Orc1 , Prdm16 , Smarca2 , Smarca4
microcephaly and chorioretinopathy 1Tp53bp1
microcephaly and chorioretinopathy 3Tp53bp1
Micronuclei, Chromosome-DefectiveH2ax
Microsatellite InstabilityHdac2 , Setd2
middle cerebral artery infarctionHdac2 , Hdac4 , Hdac5 , Hdac9 , Sirt1
migrainePrdm16
mouth diseaseChaf1a , Chaf1b
Mouth NeoplasmsSirt3
Mucinous CystadenomaDaxx
mucoepidermoid carcinomaBap1
multicentric Castleman diseaseKmt2b
Multicystic Dysplastic KidneyEp300
Multiple AbnormalitiesEp300 , H3f3a
multiple endocrine neoplasiaMen1
multiple endocrine neoplasia type 1Men1
multiple myelomaBap1 , Cbx7 , Crebbp , Hdac4 , Kdm5c , Kmt2c , Kmt2d , Prmt5
multiple sclerosisHdac1 , Jarid2
myelodysplastic syndromeBap1 , Bmi1 , Crebbp , Ezh2 , Hdac1 , Kmt2e , Macroh2a1
myelodysplastic/myeloproliferative neoplasmEzh2
myelofibrosisEzh2 , Kmt2a
myeloid leukemiaCbx7 , Hdac2 , Kmt2a , Kmt2e , Nsd3
myeloid leukemia associated with Down SyndromeEzh2
Myeloid Leukemia, Accelerated PhaseBmi1
myeloid neoplasmEzh2
myocardial infarctionBirc5 , Kdm5b , Kdm6a , Sirt1 , Sirt3
Myocardial Reperfusion InjuryBrd4 , Crebbp , H2ax , Hdac3 , Sirt1 , Suv39h1
Myoclonic EpilepsiesPrmt7
nasopharynx carcinomaEzh2 , Kdm3a , Kmt2c
nemaline myopathy 6Usp3
Neoplasm InvasivenessHdac3 , Kdm1a
Neoplasm MetastasisBrd4 , Cbx4 , Cbx5 , Daxx , Ehmt2 , Ezh2 , Hdac3 , Kdm6a , Kmt2b , Kmt2d , Sirt1
Neoplasm Recurrence, LocalH2ax , Ywhaz
Neoplastic Cell TransformationEhmt2 , Ezh2 , Suv39h1 , Suv39h1-ps1
Neoplastic ProcessesChaf1b
Neovascularization, PathologicBmi1
nephroblastomaKdm4d
nephrocalcinosisBrd4
nephrogenic diabetes insipidusSirt1
nephronophthisisKat6b
nephronophthisis 14Brd7
nephronophthisis-like nephropathy 1Ep300
Nerve DegenerationSirt1
Nerve Sheath NeoplasmsEed , Suz12
Nervous System Lead PoisoningEp300
Nervous System MalformationsCrebbp , Kmt2d , Mcph1
neural tube defectKat2a , Kdm2b , Kmt5b
neurilemmomaEed , Suz12
neuroblastomaChaf1a , Men1 , Nsd1 , Smarca4
neurodegeneration with brain iron accumulation 5Hdac6 , Suv39h1 , Suv39h1-ps1
neurodegenerative diseaseSirt1
NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIESHdac4
neurodevelopmental disorder with dysmorphic facies and distal limb anomaliesBptf , Setd1a
neurodevelopmental disorder with dysmorphic facies and thin corpus callosumSupt16h
NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIESKat5
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIESCrebbp , Smarca2
neurodevelopmental disorder with speech impairment and dysmorphic faciesSetd1a
Neurodevelopmental DisordersAsh1l , Bap1 , Bptf , Brd4 , Cbx5 , Chd1 , Crebbp , Dot1l , Ehmt1 , Ep300 , Ezh1 , Ezh2 , H3f3a , Hcfc1 , Hdac3 , Hdac4 , Hdac8 , Hira , Jarid2 , Jmjd1c , Kat5 , Kat6a , Kat6b , Kdm3b , Kdm4b , Kdm5c , Kdm6a , Kdm6b , Kmt2a , Kmt2c , Kmt2d , Kmt2e , Kmt5b , Macroh2a1 , Nsd1 , Pagr1 , Phf2 , Prdm16 , Prdm6 , Prdm9 , Prmt7 , Rbbp7 , Setd1a , Setd1b , Setd2 , Smarca2 , Smarca4 , Smyd3 , Supt16h , Suz12 , Wdr5 , Ywhaz
neuroendocrine tumorBap1 , Daxx , Men1
neurofibromaKdm6b , Suz12
neuronal ceroid lipofuscinosisSgf29
neuronal ceroid lipofuscinosis 1Sirt1
neutropeniaUsp3
Nevi and MelanomasBap1
Nevus, Epithelioid and Spindle CellBap1
Nicolaides-Baraitser syndromeSmarca2
non-Hodgkin lymphomaEzh2 , Kmt2a
non-syndromic X-linked intellectual disability 1Kdm5c
nonprogressive cerebellar ataxia with mental retardationPrdm16 , Smyd3
Noonan syndromeKat6b
O'Donnell-Luria-Rodan SyndromeKmt2e
obesityBrd2 , Ep300 , Hdac4 , Kdm3a , Prmt7 , Sirt1 , Sirt3 , Sirt6 , Smarca4
Occupational DiseasesBrcc3
ocular melanomaBap1
Ohdo syndrome, SBBYS variantKat6b , Smarca2
oligospermiaBrdt
Ollier diseaseKdm4c
Omenn syndromeRag2
Optic Nerve InjuriesEp300
oral mucosa leukoplakiaH2ax
oral squamous cell carcinomaBirc5 , Cbx2 , Chaf1b , Daxx , Ezh2 , H2ax , Kmt2d , Mcph1
Osteoarthritis, HipHdac9
osteochondrodysplasiaKdm6a , Prmt7
osteoporosisSirt1
osteosarcomaBmi1 , Brd4 , Ezh2 , Hdac6 , Sirt1
otopalatodigital syndrome type 2Hcfc1
ovarian cancerHdac3 , Men1 , Nasp , Trim24 , Trim33
ovarian carcinomaEhmt2 , Hdac3
Ovarian NeoplasmsBap1 , Birc5 , Ezh2 , Hdac1 , Hdac2 , Hdac6 , Mcph1 , Smarca4 , Tp53bp1
ovarian small cell carcinomaSmarca4
ovary epithelial cancerBrd7 , Daxx
Painful NeuropathyEp300
pancreatic adenocarcinomaBirc5
pancreatic cancerBap1 , Daxx , Ezh2 , Men1 , Nap1l1 , Pbrm1 , Smarca4 , Tp53bp1
pancreatic ductal carcinomaBmi1 , Cbx7 , Hdac1 , Kdm2b , Men1 , Rnf2
pancreatic endocrine carcinomaDaxx
Pancreatic Intraepithelial NeoplasiaBmi1 , Cbx7 , Hdac1
papillary renal cell carcinomaBirc5
paragangliomaBap1
ParakeratosisSuv39h2
ParalysisSirt1
paraplegiaAsh2l , Brcc3 , Dpy30 , Hcfc1 , Kdm5c , Nsd3
Parasitic Liver DiseasesKmt2c
parathyroid adenomaMen1
parathyroid carcinomaAsh1l , H3f3a , Kdm5b , Lbr , Rbbp5 , Rnf2 , Setdb1 , Smyd2 , Smyd3 , Usp21
patent ductus arteriosusPrdm6
Patent Ductus Arteriosus 3Prdm6
Pelger-Huet anomalyLbr
PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIESLbr
Peritoneal AdhesionsEzh2
periventricular nodular heterotopiaBrcc3 , Hcfc1
Periventricular Nodular Heterotopia 4Hcfc1
Perlman syndromeHjurp
Peroxisome Biogenesis Disorder, Complementation Group 7Prdm16
Peyronie's diseaseHdac2
Phelan-McDermid syndromeBrd1 , Hdac10
photosensitivity diseaseBrd2
Phyllodes TumorKmt2d , Setd2
Pigmented NevusSuz12
Pilarowski-Bjornsson SyndromeChd1
pituitary adenoma 5Men1
Pituitary NeoplasmsMen1
Pituitary Stalk Interruption SyndromeSmarca2
pituitary-dependent Cushing's diseaseMen1
pityriasis rubra pilarisCbx2 , Cbx4 , Cbx8
pleomorphic xanthoastrocytomaHdac9 , Kdm7a , Kmt2e , Trim24
Pneumococcal PneumoniaSirt1
pneumoniaSirt1
Polyarteritis Nodosa, Childhood-OnsetHira
polycystic kidney diseaseHdac6
Polycystic Liver Disease 1Hdac6
PolyploidyH2ax
Pontine Microangiopathy and Leukoencephalopathy, Autosomal DominantKat6b
pre-eclampsiaCrebbp , Nsd1
pre-malignant neoplasmSuv39h1
Precocious PubertyKdm6a
prediabetes syndromeSirt3
Pregnancy in DiabeticsBrcc3
PresbycusisSirt3
primary autosomal recessive microcephalyMcph1
primary autosomal recessive microcephaly 1Mcph1
primary autosomal recessive microcephaly 11Phc1
primary biliary cholangitisLbr
primary coenzyme Q10 deficiency 7Brd3 , Ehmt1 , Wdr5
primary hyperoxaluria type 1Hdac4
primary hyperparathyroidismMen1
primary immunodeficiency diseaseHira
primary ovarian insufficiencyBrd3 , Brdt , Sirt6
primary ovarian insufficiency 16Prdm9
primary pulmonary hypertensionHdac1 , Hdac4 , Hdac5
progeriaSirt6
Progressive Microcephaly with Seizures and Cerebral and Cerebellar AtrophySetd2
progressive myoclonus epilepsyPrdm8
progressive myoclonus epilepsy 10Prdm8
Progressive Myoclonus Epilepsy 12Prmt7
progressive myoclonus epilepsy 9Dot1l
prolactinomaMen1
prostate cancerBirc5 , Cbx5 , Cbx7 , Chaf1b , Chd1 , Daxx , Ep300 , Ezh2 , Hira , Kat7 , Kdm3a , Kdm4a , Kdm4b , Kdm4c , Kdm5a , Kdm5b , Kdm6a , Kmt2a , Kmt2b , Kmt2c , Kmt2d , Kmt2e , Kmt5a , Phf2 , Phf8 , Setdb1 , Sirt1 , Smarca2 , Smarca4
prostate carcinomaHdac2 , Hdac3
prostate carcinoma in situCarm1 , Hdac1
Prostatic NeoplasmsAsh1l , Bap1 , Birc5 , Brd4 , Carm1 , Chd1 , Crebbp , Dot1l , Ezh2 , Hdac1 , Hdac6 , Kat5 , Kat6a , Kdm6a , Kmt2a , Kmt2c , Kmt2d , Setd2 , Setdb1 , Sirt1 , Smarca4 , Uty
proteasome-associated autoinflammatory syndrome 1Brd2 , Daxx , Ehmt2 , Phf1 , Ring1
psoriasisCarm1
pulmonary emphysemaHdac2
pulmonary fibrosisBrd4
pulmonary hypertensionBirc5 , Brd4 , Hdac1 , Hdac2 , Hdac3 , Hdac4 , Hdac5 , Kdm5b , Tp53bp1
purine nucleoside phosphorylase deficiencySupt16h
Rafiq syndromeBrd3 , Ehmt1 , Wdr5
RASopathyH2ax , Kdm7a , Kmt2a , Trim33
recombinase activating gene 2 deficiencyRag2
rectum adenocarcinomaKdm6a
Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular MalformationsKat5 , Kdm2a , Kmt5b
Refractory AnemiaBirc5
Refractory Anemia with Excess of BlastsBirc5
renal carcinomaMcph1
renal cell carcinomaBap1 , Birc5 , Kdm4c , Kdm5c , Kdm6a , Kdm6b , Pbrm1 , Setd2 , Uty
renal hypoplasiaKat6b , Prmt7
renal Wilms' tumorBmi1 , Ezh2 , Suz12
renovascular hypertensionHdac8
Reperfusion InjuryBirc5 , Ep300 , Sirt7
restrictive cardiomyopathyPrdm16
Retina Reperfusion InjuryHdac2 , Rnf2
retinal arterial tortuosityKat6b
retinal degenerationHdac4
retinal diseaseSirt1
retinoblastomaKdm1b
RetrognathiaLbr
Rett syndromeSetdb1
Reynolds SyndromeLbr
Rhabdoid Tumor Predisposition Syndrome 2Smarca4
rheumatoid arthritisHdac1 , Kat2b , Kmt2c
Right Ventricular HypertrophyHdac1 , Hdac5
Rigidity and Multifocal Seizure Syndrome, Lethal NeonatalPagr1
Rubinstein Taybi like SyndromeKmt2a , Kmt2d
Rubinstein-Taybi syndromeCrebbp , Ep300
Salivary Gland NeoplasmsChaf1b
sarcomaSmarca4
schizophreniaAsh2l , Brd1 , Ehmt1 , H2ax , Hira , Kdm1a , Kdm2b , Kdm5c , Kmt5b , Pagr1 , Setd1a , Setdb1 , Sgf29 , Ywhaz
scoliosisCrebbp
seminomaPrmt5
senile cataractSirt1
sensorineural hearing lossBrf1
SepsisEp300 , Hdac4 , Hdac6
Serous CystadenomaDaxx
severe combined immunodeficiencyKdm2b , Rag2
severe combined immunodeficiency with sensitivity to ionizing radiationSuv39h2
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positiveRag2
severe congenital encephalopathy due to MECP2 mutationHcfc1
severe congenital neutropenia 3Ash1l , Setdb1
severe congenital neutropenia 5Ash1l , Setdb1
Sezary's diseaseCrebbp , Kmt2c , Kmt2d , Smarca4
Short Stature, Brachydactyly, Intellectual Developmental Disability, and SeizuresPrmt7
short-rib thoracic dysplasia 9 with or without polydactylyCrebbp
skin melanomaChaf1b , Crebbp , Ezh2
Skin NeoplasmsNsd1
small cell carcinomaBirc5 , Smarca4
Smith-Magenis syndromeKdm5c , Kmt2d
Sotos syndromeNsd1
Sotos syndrome 1Nsd1
Specific Granule DeficiencyPrmt5
spermatogenic failure 21Brdt
spina bifidaRnf2 , Suz12
Spinal Cord InjuriesKdm6b
spinal muscular atrophyHdac4
Spinocerebellar AtaxiasEp300 , Kat2a
SplenomegalyBrcc3 , Hcfc1
split hand-foot malformation 5Hat1
spondylocostal dysostosis 5Pagr1
squamous cell carcinomaBirc5 , Crebbp , Ep300 , Hdac1 , Hdac2 , Kmt2c , Sirt3
status epilepticusH2ax
steatotic liver diseasePrmt7 , Sirt1 , Sirt6 , Sirt7
Stevens-Johnson syndromeEp300
STING-associated vasculopathy with onset in infancyKdm3b
Stolerman neurodevelopmental syndromeKdm6b
stomach cancerCbx7 , Daxx , Ezh2 , Hdac2 , Kdm4b , Kdm5c , Kdm6a , Kmt2c , Kmt2d , Setd2
stomach carcinomaBirc5 , Cbx7 , Kdm4a , Kdm4c , Kdm5a , Kmt2c , Mdc1
Stomach NeoplasmsBap1 , Birc5 , Hdac3 , Kmt2a , Kmt2c
strabismusSmarca4
StrokeHdac1 , Hdac2 , Hdac4 , Hdac9
syndromic intellectual disabilityBrd4 , Hdac4 , Kat6a
syndromic X-linked intellectual disability Claes-Jensen typeKdm5c
syndromic X-linked intellectual disability Lubs typeHcfc1 , Hdac6 , Hdac8 , Kdm5c , Kdm6a , Phf8 , Rbbp7 , Suv39h1 , Suv39h1-ps1 , Taf1
syndromic X-linked intellectual disability Siderius typePhf8
Syndromic X-Linked Mental Retardation 33Taf1
systemic lupus erythematosusChaf1a , Ep300 , Lbr
systemic sclerodermaHdac5 , Sirt1 , Sirt7
T-cell acute lymphoblastic leukemiaEzh2 , Smarca4
T-cell non-Hodgkin lymphomaCbx7 , Ep300 , Kdm1a , Kdm2b , Kdm4c , Kmt2d
tauopathyHdac1
TelecanthusKat6b
temporal lobe epilepsyHdac2
teratomaCrebbp , Setd2 , Suz12
Testicular Germ Cell TumorBirc5
Testicular NeoplasmsBap1
tetralogy of FallotHira , Phc1
Thoracic NeoplasmsSmarca4
thrombosisSirt1
Thumb DeformityCrebbp , Ep300
thymomaBap1 , Birc5 , Pbrm1
thyroid gland anaplastic carcinomaCbx7
thyroid gland carcinomaBirc5
thyroid gland Hurthle cell carcinomaCbx7
thyroid gland papillary carcinomaBrd4 , Cbx7 , Kmt2d
Thyroid NeoplasmsBrd4 , Prdm2 , Trim24
torsion dystonia 6Kat6a
transient cerebral ischemiaDaxx , Eed , Ep300 , H2ax , Kdm1a , Kmt2a , Sirt6
transitional cell carcinomaBirc5 , Brd4 , Cbx7 , Crebbp , Daxx , Ep300 , Kdm6a , Kmt2a , Kmt2c
Transplant RejectionEzh2
transthyretin amyloidosisCrebbp
TremorAsf1a
trichodontoosseous syndromeKat7
Triple Negative Breast NeoplasmsPrmt5
triple-receptor negative breast cancerKdm6a
tuberous sclerosis 1Brd3 , Wdr5
Tumor Predisposition SyndromeBap1
Tumor Predisposition Syndrome 1Bap1
Turnpenny-Fry SyndromePcgf2
type 1 diabetes mellitusHdac1 , Hdac2 , Hdac3
type 2 diabetes mellitusEp300 , Hdac1 , Hdac2 , Kmt2d , Ncoa6 , Sirt1 , Sirt2 , Sirt3
urinary bladder cancerBap1 , Birc5 , Bptf , Cbx7 , Crebbp , Ep300 , Ezh2 , Hdac4 , Kdm4a , Kdm4b , Kdm5b , Kdm6a , Kmt2a , Kmt2c , Kmt2d , Prdm2
Urologic NeoplasmsBirc5
Usher syndromeHdac6
Uterine Cervical NeoplasmsBirc5 , Crebbp , Ep300 , Hdac1 , Hdac2 , Hdac6
Uterine NeoplasmsBap1
uveal melanomaBap1 , Kdm5b
variegate porphyriaUsp21
Vein of Galen AneurysmKat6a , Kmt2d , Smarca2
velocardiofacial syndromeHira
Ventricular Dysfunction, LeftSirt1 , Sirt6
Ventricular RemodelingSirt6
ventricular septal defectSmarca4
VentriculomegalySetd2
very long chain acyl-CoA dehydrogenase deficiencyKdm6b
vesicoureteral refluxKat6b
Vesicular StomatitisEhmt2
vipomaMen1
visual epilepsyBrd1 , Hdac2 , Hdac4 , Kdm3b , Kmt2d , Ywhaz
Volvulus Of MidgutHdac8
Waardenburg syndromeAebp2
Wallerian DegenerationSirt1
Weaver syndromeEzh2 , Nsd1 , Suz12
Weight GainEzh2
Weight LossHdac3 , Sirt4
Wiedemann-Steiner syndromeKmt2a
Wilson-Turner syndromeHdac8
withdrawal disorderKdm4c
Wolff-Parkinson-White syndromePrdm16
X-linked dystonia-parkinsonismTaf1
X-linked epilepsy with variable learning disabilities and behavior disordersHdac6 , Suv39h1 , Suv39h1-ps1
X-Linked Intellectual Developmental DisordersHcfc1
X-linked severe combined immunodeficiencyTaf1
X-linked severe congenital neutropeniaHdac6 , Suv39h1 , Suv39h1-ps1
Y-linked spermatogenic failure 2Kdm5d
YOU-HOOVER-FONG SYNDROMEJmjd1c
Pathway Annotations Associated with Genes in the histone modification pathway
Pathway TermsGene Symbols
ADP-ribosylation pathway, mono and poly-ribosylationAplf
aldosterone signaling pathwayCrebbp , Daxx
altered SWI/SNF family mediated chromatin remodeling pathwayPbrm1 , Smarca4
amyotrophic lateral sclerosis pathwayDaxx
androgen signaling pathwayCarm1 , Crebbp , Ep300 , Prmt1
ataxia telangiectasia-mutated (ATM) signaling pathwayBrcc3 , H2ax , Kat5 , Kdm4a , L3mbtl1 , Mdc1 , Tp53bp1 , Usp16 , Usp3 , Usp44
calcium/calmodulin dependent kinase 2 signaling pathwayHdac4 , Hdac5
carnitine biosynthetic pathwaySetd7
cell cycle pathway, mitoticCrebbp , Ep300 , Hdac1 , Hdac2 , Ywhaz
CHD family mediated chromatin remodeling pathwayHdac1 , Hdac2 , Rbbp4 , Rbbp7
cholesterol biosynthetic pathwayLbr
chronic myeloid leukemia pathwayHdac1 , Hdac2
cisplatin drug pathwaySsrp1
colorectal cancer pathwayBirc5
cortisol signaling pathwayCrebbp , Ep300 , Kat2b , Smarca4
DNA modification pathwayCxxc1 , Kdm2a , Kdm2b , Kmt2a , Kmt2c , Uhrf1
estrogen signaling pathwayCarm1 , Crebbp , Ep300 , Ncoa6 , Prmt1
forkhead class A signaling pathwayCrebbp , Ep300
granulocyte-macrophage colony-stimulating factor signaling pathwayYwhaz
Hedgehog signaling pathwayCrebbp , Hdac1 , Hdac2 , Rbbp4 , Rbbp7
histone modification pathwayAebp2 , Aplf , Asf1a , Asf1b , Ash1l , Ash2l , Bap1 , Birc5 , Bmi1 , Bptf , Brcc3 , Brd1 , Brd2 , Brd3 , Brd4 , Brd7 , Brdt , Brf1 , Carm1 , Cbx2 , Cbx4 , Cbx5 , Cbx6 , Cbx7 , Cbx8 , Chaf1a , Chaf1b , Chd1 , Crebbp , Cxxc1 , Daxx , Dot1l , Dpf3 , Dpy30 , Eed , Ehmt1 , Ehmt2 , Ep300 , Ezh1 , Ezh2 , H2ax , H2az1 , H3f3a , H3f3b , Hat1 , Hcfc1 , Hdac1 , Hdac10 , Hdac11 , Hdac2 , Hdac3 , Hdac4 , Hdac5 , Hdac6 , Hdac7 , Hdac8 , Hdac9 , Hira , Hjurp , Ing2 , Jarid2 , Jmjd1c , Kat2a , Kat2b , Kat5 , Kat6a , Kat6b , Kat7 , Kat8 , Kdm1a , Kdm1b , Kdm2a , Kdm2b , Kdm3a , Kdm3b , Kdm4a , Kdm4b , Kdm4c , Kdm4d , Kdm5a , Kdm5b , Kdm5c , Kdm5d , Kdm6a , Kdm6b , Kdm7a , Kdm8 , Kmt2a , Kmt2b , Kmt2c , Kmt2d , Kmt2e , Kmt5a , Kmt5al1 , Kmt5b , Kmt5c , L3mbtl1 , Lbr , LOC100911617 , Macroh2a1 , Macroh2a2 , Mcph1 , Mdc1 , Men1 , Mtf2 , Mysm1 , Nap1l1 , Nasp , Ncoa6 , Nsd1 , Nsd3 , Orc1 , Pagr1 , Paxip1 , Pbrm1 , Pcgf1 , Pcgf2 , Pcgf3 , Pcgf5 , Pcgf6 , Phc1 , Phc2 , Phc3 , Phf1 , Phf19 , Phf2 , Phf8 , Prdm16 , Prdm2 , Prdm6 , Prdm8 , Prdm9 , Prmt1 , Prmt2 , Prmt5 , Prmt6 , Prmt7 , Rag2 , Rbbp4 , Rbbp5 , Rbbp7 , Ring1 , Rnf2 , Setd1a , Setd1b , Setd2 , Setd7 , Setdb1 , Sgf29 , Sirt1 , Sirt2 , Sirt3 , Sirt4 , Sirt5 , Sirt6 , Sirt7 , Smarca2 , Smarca4 , Smyd1 , Smyd2 , Smyd3 , Spin1 , Ssrp1 , Supt16h , Suv39h1 , Suv39h1-ps1 , Suv39h2 , Suz12 , Taf1 , Tdrd3 , Tp53bp1 , Trim24 , Trim33 , Uhrf1 , Usp12 , Usp16 , Usp21 , Usp22 , Usp3 , Usp44 , Uty , Wdr5 , Wdr82 , Ywhaz
homocysteine metabolic pathwayCarm1 , Dot1l , Prmt1 , Prmt5 , Prmt6 , Setdb1 , Suv39h2
Huntington's disease pathwayCrebbp , Ep300 , Hdac1 , Hdac2
hypoxia inducible factor pathwayCrebbp , Ep300 , Hdac7 , Sirt1
influenza A pathwayCrebbp , Ep300
INO80 family mediated chromatin remodeling pathwayKat5
insulin responsive facilitative sugar transporter mediated glucose transport pathwayYwhaz
insulin-like growth factor signaling pathwayYwhaz
interleukin-3 signaling pathwayHdac1 , Ywhaz
ISWI family mediated chromatin remodeling pathwayBptf , Rbbp4 , Rbbp7
Jak-Stat signaling pathwayCrebbp , Ep300
long term potentiationCrebbp , Ep300
lysine degradation pathwayAsh1l , Dot1l , Ehmt1 , Ehmt2 , Kmt2d , Kmt2e , Kmt5a , Kmt5b , Kmt5c , Nsd1 , Nsd3 , Setd2 , Setd7 , Setdb1 , Suv39h1 , Suv39h2
methionine cycle/metabolic pathwayCarm1 , Dot1l , Ezh2 , Kmt5a , Prmt1 , Prmt2 , Prmt5 , Prmt6 , Prmt7 , Setd7 , Setdb1 , Smyd2 , Suv39h1 , Suv39h1-ps1 , Suv39h2
mitogen activated protein kinase signaling pathwayDaxx
mTOR signaling pathwayYwhaz
neurotrophic factor signaling pathwayYwhaz
non-homologous end joining pathway of double-strand break repairAplf , Tp53bp1
Notch signaling pathwayCrebbp , Ep300 , Hdac1 , Hdac2 , Kat2a , Kat2b , Kdm1a
nuclear factor, erythroid 2 like 2 signaling pathwayCrebbp
p53 signaling pathwayCrebbp , Daxx , Ep300 , Hdac1 , Kat2a , Kat2b , Kat5 , Kat8 , Kmt5a , Prmt5 , Setd7 , Sirt1 , Smyd2
pancreatic cancer pathwayPbrm1 , Smarca4
phosphatidylinositol 3-kinase-Akt signaling pathwayYwhaz
platelet-derived growth factor signaling pathwayYwhaz
primary immunodeficiency pathwayRag2
prostate cancer pathwayCrebbp , Ep300
renal cell carcinoma pathwayCrebbp , Ep300 , Kdm5c , Kdm6a , Pbrm1 , Setd2 , Uty
retinoic acid signaling pathwayTrim24
RNA polymerase I transcription pathwayCrebbp , Sirt1 , Sirt7 , Ssrp1 , Supt16h
RNA polymerase II transcription elongation pathwaySsrp1 , Supt16h
RNA polymerase II transcription initiation pathwayKat2a , Kat2b , Sgf29 , Taf1 , Usp22 , Wdr5
RNA polymerase III transcription pathwayBrf1
RNA transport pathwayPrmt5
Sirtuin mediated pathwaySirt1 , Sirt2 , Sirt3 , Sirt4 , Sirt5 , Sirt6 , Sirt7
SWI/SNF family mediated chromatin remodeling pathwayBrd7 , Dpf3 , Pbrm1 , Smarca2 , Smarca4
systemic lupus erythematosus pathwayH2ax , H2az1 , H3f3b , Macroh2a1 , Macroh2a2
transforming growth factor-beta Smad dependent signaling pathwayCrebbp , Daxx
transforming growth factor-beta superfamily mediated signaling pathwayCrebbp , Ep300
tuberculosis pathwayCrebbp , Ep300
type II interferon signaling pathwayCrebbp , Ep300
Wnt signaling pathwayCrebbp , Ep300
Wnt signaling, canonical pathwayCrebbp , Smarca4
Wnt signaling, non-canonical pathwaySetdb1
Phenotype Annotations Associated with Genes in the histone modification pathway

References Associated with the histone modification pathway:

Ontology Path Diagram:

paths to the root
paths to the root

Import into Pathway Studio: