NOTCH SIGNALING PATHWAY (PW:0000204)
Description
Notch signaling, a highly conserved cell-cell signaling pathway, exerts an essential regulatory role in gene expression and controls cell fate determination, differentiation, and proliferation. Notch receptors and ligands, four and five respectively in mammals, are single transmembrane proteins connecting the cell-receiving and the cell-sending signal. The DSL domain of Dll/Jag ligands and the EGF-like repeats of Notch receptors mediate the interaction. The journey of Notch from transmembrane receptor to transcriptional regulator in the nucleus involves several processing events and it is heavily regulated. In the ER Notch is O-fucosylated on EGF-like repeats contain consensus O-fucose sites for Pofut1. Members of Fng can elongate the fucose modified residues by addition of N-acetylglycosamine. Glycosylation is important for proper Notch signaling in several ways but the underlying mechanisms remain to be elucidated. Notch is subject to a number of cleavage events designated S1 through S4. In the trans-Golgi during the secretion process, S1 is carried out by a furin-like convertase. The resulting heterodimeric Notch interacts with its ligand with subsequent shedding of the ectodomain and exposure of S2 site, target of ADAM/TACE. The gamma-secretase mediated S3/S4 events lead to release of NICD and translocation to the nucleus. In the absence of Notch, RBPJ (known as CSL) transcription factor recruits co-repressors that associate with histone deacetylase complexes and keep the chromatin in a transcriptional silent mode (different color, human gene)
. NICD displaces the co-repressors to form a ternary complex, with RBPJ and members of Maml that recruits transcription factors to turn on the expression of Hes/Hey target and effector genes. It is important to note that members of Hes and Hey transcriptional regulators are the mediators of Notch downstream effects acting as transcriptional regulators, mostly repression. The mechanisms are not well understood; they are suspected to involve both DNA-dependent and independent events. Maml can also downregulate Notch by participating in the recruitment of kinases; phosphorylated NICD is target to ubiquitination and degradation. Ligands can also exert an inhibitory effect but the mechanisms are poorly understood. Proper Notch signaling is required for many aspects of development; alterations in Notch have been implicated in a number of conditions exemplified by congenital heart diseases, cerebral stroke and cancer.
To see the ontology report for annotations, GViewer and download, click here [click to see associated GO term - GO:0007219 , KEGG map map04330 and entry at Reactome - REACT_299.2 ]...(less)
Pathway Diagram:
Genes in Pathway:
G
Adam10
ADAM metallopeptidase domain 10
ISS ISO
PID RGD
PMID:12354787 PMID:17761886
PID:200015, RGD:1300252 , RGD:2302204
NCBI chr 8:80,226,862...80,358,728
Ensembl chr 8:71,345,837...71,477,889
G
Adam12
ADAM metallopeptidase domain 12
ISO
PID
PID:200015
NCBI chr 1:198,116,968...198,443,680
Ensembl chr 1:188,686,989...189,020,667
G
Adam17
ADAM metallopeptidase domain 17
ISO IEA
KEGG RGD
PMID:17761886
rno:04330, RGD:2302204
NCBI chr 6:46,601,583...46,663,690
Ensembl chr 6:40,872,856...40,920,639
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Aph1a
aph-1 homolog A, gamma secretase subunit
ISO IEA
KEGG PID RGD
PMID:17761886
PID:200015 rno:04330, RGD:2302204
NCBI chr 2:186,123,023...186,130,886
Ensembl chr 2:183,438,434...183,441,955
G
Aph1b
aph-1 homolog B, gamma secretase subunit
ISO IEA
KEGG PID RGD
PMID:17761886
PID:200015 rno:04330, RGD:2302204
NCBI chr 8:76,310,380...76,334,146
Ensembl chr 8:67,429,198...67,450,243
G
Cbl
Cbl proto-oncogene
ISO
PID
PID:200015
NCBI chr 8:53,384,656...53,468,067
Ensembl chr 8:44,489,410...44,571,176
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Ccnd1
cyclin D1
ISO
PID
PID:200015
NCBI chr 1:209,518,288...209,527,986
Ensembl chr 1:200,089,002...200,098,602
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Cdkn1a
cyclin-dependent kinase inhibitor 1A
ISO
PID
PID:200015
NCBI chr20:7,150,820...7,161,373
Ensembl chr20:7,149,217...7,159,585
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Cir1
corepressor interacting with RBPJ, 1
IEA
KEGG
rno:04330
NCBI chr 3:78,566,438...78,596,309
Ensembl chr 3:58,158,951...58,188,789
G
Cntn1
contactin 1
ISO
PID
PID:200015
NCBI chr 7:125,142,638...125,440,397
Ensembl chr 7:123,372,792...123,558,541
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Cntn6
contactin 6
ISO
PID
PID:200015
NCBI chr 4:138,911,090...139,307,339
Ensembl chr 4:137,355,367...137,751,119
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Crebbp
CREB binding protein
IEA
KEGG
rno:04330
NCBI chr10:11,842,307...11,968,266
Ensembl chr10:11,335,953...11,461,888
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Ctbp1
C-terminal binding protein 1
ISO IEA
PID KEGG
PID:200015 rno:04330
NCBI chr14:81,679,956...81,707,331
Ensembl chr14:77,455,696...77,482,821
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Ctbp2
C-terminal binding protein 2
IEA
KEGG
rno:04330
NCBI chr 1:197,208,536...197,348,802
Ensembl chr 1:187,782,682...187,920,222
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Cul1
cullin 1
ISO
PID
PID:200015
NCBI chr 4:77,551,781...77,634,210
Ensembl chr 4:76,551,983...76,627,980
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Dlk1
delta like non-canonical Notch ligand 1
ISO
PID
PID:200015
NCBI chr 6:134,192,491...134,199,779
Ensembl chr 6:128,410,316...128,417,522
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Dll1
delta like canonical Notch ligand 1
TAS IEA ISO
KEGG PID RGD
PMID:14743446 PMID:17761886
PID:200015 rno:04330, RGD:1304491 , RGD:2302204
NCBI chr 1:64,985,161...64,993,274
Ensembl chr 1:56,312,066...56,320,179
G
Dll3
delta like canonical Notch ligand 3
TAS IEA ISO
KEGG PID RGD
PMID:14743446 PMID:17761886
PID:200015 rno:04330, RGD:1304491 , RGD:2302204
NCBI chr 1:92,689,577...92,698,125
Ensembl chr 1:83,562,014...83,569,750
G
Dll4
delta like canonical Notch ligand 4
ISO IEA
KEGG PID RGD
PMID:17761886
PID:200015 rno:04330, RGD:2302204
NCBI chr 3:126,770,945...126,780,769
Ensembl chr 3:106,316,986...106,326,931
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Dner
delta/notch-like EGF repeat containing
ISO
PID
PID:200015
NCBI chr 9:93,035,108...93,350,568
Ensembl chr 9:85,586,987...85,902,637
G
Dnm1
dynamin 1
ISO
PID
PID:200015
NCBI chr 3:36,002,535...36,055,220
Ensembl chr 3:15,604,784...15,648,538
G
Dtx1
deltex E3 ubiquitin ligase 1
ISO
PID
PID:200015
NCBI chr12:41,510,252...41,541,433
Ensembl chr12:35,849,617...35,880,838
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Dtx2
deltex E3 ubiquitin ligase 2
IEA
KEGG
rno:04330
NCBI chr12:26,279,899...26,319,541
Ensembl chr12:20,643,297...20,682,885
G
Dtx3
deltex E3 ubiquitin ligase 3
IEA
KEGG
rno:04330
NCBI chr 7:64,898,693...64,904,636
Ensembl chr 7:63,013,371...63,018,522
G
Dtx3l
deltex E3 ubiquitin ligase 3L
IEA
KEGG
rno:04330
NCBI chr11:78,320,225...78,329,837
Ensembl chr11:64,814,926...64,824,538
G
Dtx4
deltex E3 ubiquitin ligase 4
IEA
KEGG
rno:04330
NCBI chr 1:218,882,391...218,969,837
Ensembl chr 1:209,460,735...209,492,818
G
Dvl1
dishevelled segment polarity protein 1
IEA
KEGG
rno:04330
NCBI chr 5:171,738,911...171,750,967
Ensembl chr 5:166,456,686...166,468,664
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Dvl3
dishevelled segment polarity protein 3
IEA
KEGG
rno:04330
NCBI chr11:93,869,834...93,887,013
Ensembl chr11:80,366,117...80,382,462
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Eno1
enolase 1
ISO
PID
PID:200015
NCBI chr 5:166,002,867...166,014,252
Ensembl chr 5:160,719,951...160,731,336 Ensembl chr 3:160,719,951...160,731,336
G
Ep300
E1A binding protein p300
ISO IEA
PID KEGG
PID:200015 rno:04330
NCBI chr 7:114,987,857...115,058,652
Ensembl chr 7:113,106,247...113,136,088 Ensembl chr 7:113,106,247...113,136,088
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Eps15
epidermal growth factor receptor pathway substrate 15
ISO
PID
PID:200015
NCBI chr 5:129,274,487...129,374,856
Ensembl chr 5:124,045,926...124,146,221
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Fbxw7
F-box and WD repeat domain containing 7
ISO
PID
PID:200015
NCBI chr 2:172,447,738...172,609,591
Ensembl chr 2:170,149,694...170,309,941
G
Furin
furin (paired basic amino acid cleaving enzyme)
ISO
PID
PID:200015
NCBI chr 1:143,757,389...143,770,430
Ensembl chr 1:134,348,144...134,364,314
G
Gata3
GATA binding protein 3
ISO
PID
PID:200015
NCBI chr17:73,544,234...73,575,670
Ensembl chr17:68,643,873...68,665,391
G
Hdac1
histone deacetylase 1
ISO IEA
PID KEGG
PID:200015 rno:04330
NCBI chr 5:147,138,328...147,165,387
Ensembl chr 5:141,853,989...141,881,111
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Hdac1l
histone deacetylase 1-like
IEA
KEGG
rno:04330
NCBI chr 9:87,901,045...87,903,045
Ensembl chr 9:80,453,139...80,454,593
G
Hdac2
histone deacetylase 2
IEA
KEGG
rno:04330
NCBI chr20:42,101,815...42,126,486
Ensembl chr20:40,548,250...40,571,609
G
Hes1
hes family bHLH transcription factor 1
ISO IEA
KEGG RGD
PMID:17586813
rno:04330, RGD:5135539
NCBI chr11:84,210,632...84,213,045
Ensembl chr11:70,705,764...70,708,192
G
Hes5
hes family bHLH transcription factor 5
ISO IEA
KEGG RGD
PMID:17586813
rno:04330, RGD:5135539
NCBI chr 5:170,804,511...170,807,988
Ensembl chr 5:165,522,234...165,523,001
G
Hes7
hes family bHLH transcription factor 7
ISO
RGD
PMID:17586813
RGD:5135539
NCBI chr10:54,322,971...54,327,776
Ensembl chr10:53,825,574...53,828,097
G
Hey1
hes-related family bHLH transcription factor with YRPW motif 1
IDA ISO
RGD
PMID:11741889 PMID:17586813
RGD:70528 , RGD:5135539
NCBI chr 2:95,003,935...95,006,457
Ensembl chr 2:93,095,498...93,100,312
G
Hey2
hes-related family bHLH transcription factor with YRPW motif 2
ISO IDA
RGD
PMID:17586813 PMID:11741889
RGD:5135539 , RGD:70528
NCBI chr 1:28,641,100...28,651,187
Ensembl chr 1:26,822,131...26,832,218
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Heyl
hes-related family bHLH transcription factor with YRPW motif-like
ISO
RGD
PMID:17586813
RGD:5135539
NCBI chr 5:140,793,271...140,810,262
Ensembl chr 5:135,508,160...135,525,152
G
Il4
interleukin 4
ISO
PID
PID:200015
NCBI chr10:38,272,003...38,277,549
Ensembl chr10:37,771,203...37,776,750
G
Itch
itchy E3 ubiquitin protein ligase
ISO
PID
PID:200015
NCBI chr 3:164,102,490...164,193,932
Ensembl chr 3:143,645,637...143,733,543
G
Jag1
jagged canonical Notch ligand 1
IDA IEA ISO IMP
KEGG PID RGD
PMID:7697721 PMID:15057910 PMID:17761886
PID:200015 rno:04330, RGD:69863 , RGD:1334443 , RGD:2302204
NCBI chr 3:144,859,453...144,894,883
Ensembl chr 3:124,406,794...124,442,209
G
Jag2
jagged canonical Notch ligand 2
ISO IEA
KEGG PID RGD
PMID:17761886
PID:200015 rno:04330, RGD:2302204
NCBI chr 6:137,804,133...137,826,738
Ensembl chr 6:131,983,056...132,005,818
G
Kat2a
lysine acetyltransferase 2A
IEA
KEGG
rno:04330
NCBI chr10:86,132,535...86,140,877
Ensembl chr10:85,632,216...85,640,166
G
Kat2b
lysine acetyltransferase 2B
IEA
KEGG
rno:04330
NCBI chr 9:6,799,101...6,903,616
Ensembl chr 9:6,562,288...6,667,064
G
Kdm1a
lysine demethylase 1A
ISO
PID
PID:200015
NCBI chr 5:154,066,436...154,121,913
Ensembl chr 5:148,782,976...148,838,319
G
Lfng
LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase
IDA IEA ISO
KEGG RGD
PMID:12167404 PMID:17761886
rno:04330, RGD:727405 , RGD:2302204
NCBI chr12:19,144,474...19,152,951
Ensembl chr12:14,018,333...14,039,008
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Lnx1
ligand of numb-protein X 1
ISO
PID
PID:200015
NCBI chr14:33,868,517...33,971,217
Ensembl chr14:33,514,436...33,617,086
G
Maml1
mastermind-like transcriptional coactivator 1
ISO IEA
KEGG PID RGD
PMID:17761886
PID:200015 rno:04330, RGD:2302204
NCBI chr10:35,089,715...35,124,100
Ensembl chr10:34,588,646...34,623,338
G
Maml2
mastermind-like transcriptional coactivator 2
ISO IEA
KEGG PID RGD
PMID:17761886
PID:200015 rno:04330, RGD:2302204
NCBI chr 8:18,552,480...18,869,923
Ensembl chr 8:10,268,665...10,587,107
G
Maml3
mastermind-like transcriptional coactivator 3
ISO
RGD
PMID:17761886
RGD:2302204
NCBI chr 2:137,871,267...138,288,615
Ensembl chr 2:135,721,021...136,137,814
G
Mark2
microtubule affinity regulating kinase 2
ISO
PID
PID:200015
NCBI chr 1:213,890,213...213,955,417
Ensembl chr 1:204,461,030...204,525,652
G
Mfap2
microfibril associated protein 2
ISO
PID
PID:200015
NCBI chr 5:158,595,121...158,603,283
Ensembl chr 5:153,314,711...153,320,259
G
Mfap5
microfibril associated protein 5
ISO
PID
PID:200015
NCBI chr 4:157,399,919...157,422,448
Ensembl chr 4:155,727,925...155,750,458
G
Mfng
MFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase
ISS IEA ISO
KEGG RGD
PMID:9187150 PMID:17761886
rno:04330, RGD:1302739 , RGD:2302204
NCBI chr 7:112,191,288...112,209,129
Ensembl chr 7:110,310,812...110,328,653
G
Mib1
MIB E3 ubiquitin protein ligase 1
ISO
PID RGD
PMID:12530964
PID:200015, RGD:1334454
NCBI chr18:2,075,309...2,199,774
Ensembl chr18:1,802,519...1,920,689
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Myc
MYC proto-oncogene, bHLH transcription factor
ISO
PID
PID:200015
NCBI chr 7:95,483,105...95,488,031
Ensembl chr 7:93,593,705...93,598,630
G
Mycbp
Myc binding protein
ISO
PID
PID:200015
NCBI chr 5:141,420,727...141,427,938
Ensembl chr 5:136,135,931...136,145,616
G
Ncor1
nuclear receptor co-repressor 1
ISO
PID
PID:200015
NCBI chr10:47,498,852...47,641,612
Ensembl chr10:46,999,536...47,141,032
G
Ncor2
nuclear receptor co-repressor 2
ISO IEA
PID KEGG
PID:200015 rno:04330
NCBI chr12:37,127,736...37,289,612
Ensembl chr12:31,466,412...31,628,319
G
Ncstn
nicastrin
TAS IEA ISO
KEGG PID RGD
PMID:12736250 PMID:17761886
PID:200015 rno:04330, RGD:724403 , RGD:2302204
NCBI chr13:87,062,827...87,078,839
Ensembl chr13:84,530,440...84,546,454
G
Neurl1
neuralized E3 ubiquitin protein ligase 1
ISO
RGD
PMID:14986688
RGD:1334462
NCBI chr 1:256,008,012...256,094,219
Ensembl chr 1:246,067,100...246,152,903
G
Neurl2
neuralized E3 ubiquitin protein ligase 2
ISO
RGD
PMID:14986688
RGD:1334462
NCBI chr 3:173,985,996...173,988,717
Ensembl chr 3:153,566,660...153,569,380
G
Notch1
notch receptor 1
IDA IEA ISO IMP
KEGG PID RGD
PMID:11900468 PMID:15247148 PMID:15057910 PMID:17761886 PMID:12853432
PID:200015 rno:04330, RGD:724389 , RGD:2306423 , RGD:1334443 , RGD:2302204 , RGD:1358543
NCBI chr 3:29,676,040...29,721,613
Ensembl chr 3:9,278,086...9,323,531
G
Notch2
notch receptor 2
ISO IEA
KEGG PID RGD
PMID:17761886
PID:200015 rno:04330, RGD:2302204
NCBI chr 2:188,299,336...188,432,823
Ensembl chr 2:185,610,589...185,744,088
G
Notch3
notch receptor 3
ISO IEA IDA
KEGG PID RGD
PMID:11971902 PMID:15247148 PMID:17761886
PID:200015 rno:04330, RGD:625426 , RGD:2306423 , RGD:2302204
NCBI chr 7:11,783,550...11,834,585
Ensembl chr 7:11,133,706...11,184,025
G
Notch4
notch receptor 4
IDA IEA ISO
KEGG PID RGD
PMID:10964583 PMID:17761886
PID:200015 rno:04330, RGD:1304484 , RGD:2302204
NCBI chr20:4,164,969...4,189,072
Ensembl chr20:4,160,445...4,184,465
G
Numb
NUMB, endocytic adaptor protein
TAS IEA ISO
KEGG PID RGD
PMID:12500307
PID:200015 rno:04330, RGD:724390
NCBI chr 6:109,162,499...109,284,527
Ensembl chr 6:103,431,400...103,553,354
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Numbl
NUMB-like, endocytic adaptor protein
ISO IEA
KEGG RGD
PMID:15492044
rno:04330, RGD:1334451
NCBI chr 1:91,677,437...91,701,415
Ensembl chr 1:82,550,054...82,573,776
G
Pofut1
protein O-fucosyltransferase 1
ISS ISO
RGD
PMID:14570055 PMID:17761886
RGD:1334453 , RGD:2302204
NCBI chr 3:162,168,855...162,195,798
Ensembl chr 3:141,708,644...141,734,786
G
Psen1
presenilin 1
TAS IEA ISO
KEGG PID RGD
PMID:12736250 PMID:17761886
PID:200015 rno:04330, RGD:724403 , RGD:2302204
NCBI chr 6:109,054,160...109,106,191
Ensembl chr 6:103,323,120...103,371,650
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Psen2
presenilin 2
ISO IEA
KEGG RGD
PMID:17761886
rno:04330, RGD:2302204
NCBI chr13:94,499,451...94,528,419
Ensembl chr13:91,967,983...91,993,174
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Psenen
presenilin enhancer gamma secretase subunit
ISO IEA
KEGG PID RGD
PMID:17761886
PID:200015 rno:04330, RGD:2302204
NCBI chr 1:94,942,348...94,943,545
Ensembl chr 1:85,814,905...85,816,192
G
Ptcra
pre T-cell antigen receptor alpha
IEA
KEGG
rno:04330
NCBI chr 9:21,716,522...21,726,751
Ensembl chr 9:14,218,802...14,229,235
G
Rab11a
RAB11a, member RAS oncogene family
ISO
PID
PID:200015
NCBI chr 8:74,118,922...74,141,760
Ensembl chr 8:65,222,949...65,246,525
G
Rbbp8
RB binding protein 8, endonuclease
ISO
PID
PID:200015
NCBI chr18:3,198,188...3,263,643
Ensembl chr18:2,921,286...2,988,846
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Rbpj
recombination signal binding protein for immunoglobulin kappa J region
IDA IEA ISO
KEGG PID RGD
PMID:15247148
PID:200015 rno:04330, RGD:2306423
NCBI chr14:61,551,366...61,736,220
Ensembl chr14:57,338,507...57,523,353
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Rbpjl
recombination signal binding protein for immunoglobulin kappa J region-like
IEA
KEGG
rno:04330
NCBI chr 3:173,553,389...173,565,869
Ensembl chr 3:153,134,140...153,146,513
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Rbpjl2
recombination signal binding protein for immunoglobulin kappa J region-like 2
IEA
KEGG
rno:04330
NCBI chr 5:10,248,069...10,249,467
Ensembl chr 5:5,464,397...5,466,366
G
Rfng
RFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase
IMP IEA ISO
KEGG RGD
PMID:11165380 PMID:17761886
rno:04330, RGD:633801 , RGD:2302204
NCBI chr10:106,545,543...106,548,644
Ensembl chr10:106,047,221...106,050,345
G
Skp1
S-phase kinase-associated protein 1
ISO
PID
PID:200015
NCBI chr10:36,898,670...36,917,828
Ensembl chr10:36,402,153...36,417,388
G
Skp2
S-phase kinase associated protein 2
ISO
PID
PID:200015
NCBI chr 2:59,888,406...59,916,471
Ensembl chr 2:58,161,229...58,189,338
G
Snw1
SNW domain containing 1
IEA
KEGG
rno:04330
NCBI chr 6:112,826,374...112,850,459
Ensembl chr 6:107,095,457...107,119,536
G
Spen
spen family transcriptional repressor
ISO
PID
PID:200015
NCBI chr 5:159,058,258...159,131,789
Ensembl chr 5:153,776,234...153,848,811
G
Sspo
SCO-spondin
ISO
PID
PID:200015
NCBI chr 4:78,725,829...78,781,330
Ensembl chr 4:77,397,059...77,450,412
G
Yy1
YY1 transcription factor
ISO
PID
PID:200015
NCBI chr 6:133,471,615...133,500,875
Ensembl chr 6:127,707,596...127,732,747
G
Dll1
delta like canonical Notch ligand 1
ISS
paper on the human protein which may be involved in disease
RGD
PMID:10079256
RGD:1304492
NCBI chr 1:64,985,161...64,993,274
Ensembl chr 1:56,312,066...56,320,179
G
Dll3
delta like canonical Notch ligand 3
ISS
paper mentions mutations and diseases, deletion in mice
RGD
PMID:12141422
RGD:1304493
NCBI chr 1:92,689,577...92,698,125
Ensembl chr 1:83,562,014...83,569,750
G
Hey1
hes-related family bHLH transcription factor with YRPW motif 1
ISS
RGD
PMID:12548545
RGD:1334460
NCBI chr 2:95,003,935...95,006,457
Ensembl chr 2:93,095,498...93,100,312
G
Jag1
jagged canonical Notch ligand 1
ISS
RGD
PMID:10964583
RGD:1304484
NCBI chr 3:144,859,453...144,894,883
Ensembl chr 3:124,406,794...124,442,209
G
Jag2
jagged canonical Notch ligand 2
ISS
RGD
PMID:10079256
RGD:1304492
NCBI chr 6:137,804,133...137,826,738
Ensembl chr 6:131,983,056...132,005,818
G
Notch1
notch receptor 1
ISS
RGD
PMID:11900468
RGD:724389
NCBI chr 3:29,676,040...29,721,613
Ensembl chr 3:9,278,086...9,323,531
G
Notch4
notch receptor 4
ISS
RGD
PMID:10964583
RGD:1304484
NCBI chr20:4,164,969...4,189,072
Ensembl chr20:4,160,445...4,184,465
G
Numb
NUMB, endocytic adaptor protein
ISS
RGD
PMID:15492044
RGD:1334451
NCBI chr 6:109,162,499...109,284,527
Ensembl chr 6:103,431,400...103,553,354
G
Pofut1
protein O-fucosyltransferase 1
ISS
RGD
PMID:14570055
RGD:1334453
NCBI chr 3:162,168,855...162,195,798
Ensembl chr 3:141,708,644...141,734,786
G
Hey1
hes-related family bHLH transcription factor with YRPW motif 1
ISS
RGD
PMID:12548545
RGD:1334460
NCBI chr 2:95,003,935...95,006,457
Ensembl chr 2:93,095,498...93,100,312
G
Numb
NUMB, endocytic adaptor protein
ISS
In humans, loss of Numb regulation over Notch is involved in breast cancer.
RGD
PMID:15492044
RGD:1334451
NCBI chr 6:109,162,499...109,284,527
Ensembl chr 6:103,431,400...103,553,354
G
Pofut1
protein O-fucosyltransferase 1
ISS
RGD
PMID:14570055
RGD:1334453
NCBI chr 3:162,168,855...162,195,798
Ensembl chr 3:141,708,644...141,734,786
G
Psen2
presenilin 2
ISO
C. elegans transgenics expressing human wild-type and mutant PSEN2
RGD
PMID:16474849
RGD:2302525
NCBI chr13:94,499,451...94,528,419
Ensembl chr13:91,967,983...91,993,174
G
Dll3
delta like canonical Notch ligand 3
ISS
RGD
PMID:12141422
RGD:1304493
NCBI chr 1:92,689,577...92,698,125
Ensembl chr 1:83,562,014...83,569,750
G
Jag1
jagged canonical Notch ligand 1
ISS
RGD
PMID:15057910
RGD:1334443
NCBI chr 3:144,859,453...144,894,883
Ensembl chr 3:124,406,794...124,442,209
G
Notch1
notch receptor 1
ISS
RGD
PMID:15472075
RGD:1334450
NCBI chr 3:29,676,040...29,721,613
Ensembl chr 3:9,278,086...9,323,531
G
Notch3
notch receptor 3
ISS
RGD
PMID:14667809
RGD:1334442
NCBI chr 7:11,783,550...11,834,585
Ensembl chr 7:11,133,706...11,184,025
Pathway Gene Annotations
Disease Annotations Associated with Genes in the Notch signaling pathway
Adam10 Alzheimer's disease , Alzheimer's disease 18 , Bloom syndrome , Breast Neoplasms , cardiomyopathy , cataract , Cognitive Dysfunction , colorectal cancer , Dowling-Degos disease , Experimental Arthritis , Fibrosis , Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis , genetic disease , IgA glomerulonephritis , kidney failure , Prenatal Exposure Delayed Effects , reticulate acropigmentation of Kitamura , status epilepticus , thoracic aortic aneurysm , traumatic brain injury , ureteral obstruction Adam12 distal 10q deletion syndrome , osteoarthritis , ureteral obstruction Adam17 Alzheimer's disease , atopic dermatitis , Blister , Brain Hypoxia , colitis , congestive heart failure , Experimental Arthritis , Experimental Autoimmune Encephalomyelitis , Experimental Colitis , Experimental Liver Cirrhosis , genetic disease , Kidney Reperfusion Injury , Left Ventricular Hypertrophy , Neonatal Inflammatory Skin and Bowel Disease 1 , NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, NYSTAGMUS, AND SEIZURES , Pneumococcal Meningitis , renal fibrosis , syndromic microphthalmia 5 , thoracic aortic aneurysm , tuberculosis , type 2 diabetes mellitus , ureteral obstruction Aph1a Alzheimer's disease , gastrointestinal stromal tumor , immunodeficiency 42 , MHC class II deficiency , parathyroid carcinoma , severe congenital neutropenia 3 , severe congenital neutropenia 5 Aph1b Alzheimer's disease , Bloom syndrome , colorectal cancer , coronary artery disease , HIV Seropositivity , hypertrophic cardiomyopathy , nemaline myopathy 6 Cbl acute myeloid leukemia , B-Cell Chronic Lymphocytic Leukemia , B-lymphoblastic leukemia/lymphoma with hyperdiploidy , Carotid Artery Injuries , CD3epsilon deficiency , chromosome 11 partial duplication syndrome , colorectal cancer , congenital diaphragmatic hernia , congenital disorder of glycosylation Ij , congenital myasthenic syndrome 13 , congestive heart failure , cryptorchidism , Developmental Disabilities , Dilated Cardiomyopathy with Left Ventricular Noncompaction , Dwarfism , Experimental Arthritis , Experimental Leukemia , Familial Atrial Fibrillation 14 , genetic disease , Growth Disorders , Hematologic Neoplasms , hepatocellular carcinoma , Hereditary Neoplastic Syndromes , hyperglycemia , immunodeficiency 17 , immunodeficiency 18 , immunodeficiency 19 , inflammatory bowel disease 28 , isolated microphthalmia 5 , juvenile myelomonocytic leukemia , long QT syndrome 10 , lung non-small cell carcinoma , Lymphatic Metastasis , lymphopenia , male infertility , malignant ovarian germ cell neoplasm , microcephaly , multiple myeloma , myeloid neoplasm , Myocardial Reperfusion Injury , Neurodevelopmental Disorders , Noonan Like Syndrome , Noonan syndrome , Noonan syndrome 1 , Noonan Syndrome-Like Disorder with or without Juvenile Myelomonocytic Leukemia , osteosarcoma , ovarian germ cell cancer , Peripheral Nerve Injuries , RASopathy , rhabdomyosarcoma , schizophrenia , transient cerebral ischemia , type 1 diabetes mellitus , vasculitis Ccnd1 acute lymphoblastic leukemia , acute myeloid leukemia , adenocarcinoma , adenoid cystic carcinoma , Aicardi-Goutieres Syndrome 3 , angiosarcoma , Animal Mammary Neoplasms , atherosclerosis , B-lymphoblastic leukemia/lymphoma , Bowen's Disease , Brain Neoplasms , Breast Neoplasms , bronchiolo-alveolar adenocarcinoma , Burns , carcinoma , Cecal Neoplasms , cervix uteri carcinoma in situ , Chronic Hepatitis C , colon adenoma , Colonic Neoplasms , colorectal cancer , Colorectal Neoplasms , Disease Progression , ductal carcinoma in situ , Endometrial Neoplasms , Esophageal Neoplasms , esophagus squamous cell carcinoma , Experimental Liver Neoplasms , Experimental Mammary Neoplasms , Experimental Neoplasms , Experimental Seizures , Genomic Instability , head and neck squamous cell carcinoma , hepatocellular carcinoma , high grade glioma , hyperparathyroidism , Hyperplasia , immunodeficiency 90 , impotence , intellectual disability , interstitial cystitis , Intestinal Polyps , invasive lobular carcinoma , Kidney Neoplasms , leukemia , liver cancer , Liver Neoplasms , long QT syndrome , lung adenocarcinoma , Lung Neoplasms , lung non-small cell carcinoma , lung small cell carcinoma , lung squamous cell carcinoma , malignant astrocytoma , mantle cell lymphoma , medulloblastoma , multiple myeloma , Myocardial Ischemia , Nasopharyngeal Neoplasms , Neoplasm Metastasis , Neoplastic Cell Transformation , non-Hodgkin lymphoma , ovarian carcinoma , pancreatic adenocarcinoma , pancreatic cancer , pancreatic ductal adenocarcinoma , pancreatic ductal carcinoma , Pancreatic Intraepithelial Neoplasia , pancreatic solid pseudopapillary carcinoma , papillary thyroid carcinoma , papilloma , penile benign neoplasm , pre-malignant neoplasm , prostate cancer , prostate carcinoma in situ , Prostatic Neoplasms , renal cell carcinoma , Reperfusion Injury , Salivary Gland Neoplasms , squamous cell carcinoma , status epilepticus , Stomach Neoplasms , Thyroid Neoplasms , tongue squamous cell carcinoma , transitional cell carcinoma , urinary bladder cancer , Urologic Neoplasms , Uterine Cervical Neoplasms , von Hippel-Lindau disease Cdkn1a acoustic neuroma , Acute Experimental Pancreatitis , Animal Mammary Neoplasms , Arsenic Poisoning , atrial fibrillation , autosomal dominant polycystic kidney disease , Barrett's esophagus , Bowen's Disease , Brain Injuries , Breast Neoplasms , carcinoma , cervix uteri carcinoma in situ , cholesteatoma of middle ear , chronic obstructive pulmonary disease , Colonic Neoplasms , Congenital Cholesteatoma , Diabetic Nephropathies , ductal carcinoma in situ , Embryo Loss , Endometrial Neoplasms , Esophageal Neoplasms , esophagus squamous cell carcinoma , Experimental Diabetes Mellitus , Experimental Liver Cirrhosis , Experimental Liver Neoplasms , facioscapulohumeral muscular dystrophy , Fuchs' endothelial dystrophy , growth hormone secreting pituitary adenoma , Habitual Abortions , Hearing Loss, Noise-Induced , hepatocellular carcinoma , high grade glioma , human immunodeficiency virus infectious disease , Hyperoxia , Hyperplasia , Hypertrophy , Hypovolemia , Intestinal Neoplasms , inverted papilloma , kidney disease , laryngeal squamous cell carcinoma , Lip Neoplasms , lipoid nephrosis , liver benign neoplasm , Liver Neoplasms , localized scleroderma , Lung Neoplasms , lung non-small cell carcinoma , Lymphatic Metastasis , macular degeneration , malignant mesothelioma , maxillary sinus squamous cell carcinoma , melanoma , Neoplasm Metastasis , ocular hypertension , Oral Lichen Planus , oral mucosa leukoplakia , oral squamous cell carcinoma , Ovarian Neoplasms , pancreatic carcinoma , pancreatic ductal carcinoma , papilloma , Phyllodes Tumor , Pituitary Neoplasms , pre-malignant neoplasm , Premature Aging , primary biliary cholangitis , primary open angle glaucoma , prostate cancer , Prostatic Neoplasms , proteasome-associated autoinflammatory syndrome 1 , psoriasis , pulmonary hypertension , renal hypertension , Reperfusion Injury , retinal degeneration , RETINAL DYSTROPHY WITH INNER RETINAL DYSFUNCTION AND GANGLION CELL ABNORMALITIES , Salivary Gland Neoplasms , sarcoidosis , Sarcopenia , sebaceous gland neoplasm , Sepsis , serous cystadenocarcinoma , Skin Neoplasms , squamous cell carcinoma , stomach carcinoma , Stomach Neoplasms , systemic lupus erythematosus , T-cell non-Hodgkin lymphoma , Thyroid Neoplasms , Tongue Neoplasms , tongue squamous cell carcinoma , transitional cell carcinoma , ulcerative colitis , urinary bladder cancer , Uterine Cervical Neoplasms Cir1 COVID-19 , split hand-foot malformation 5 Cntn1 Ataxia , Compton-North congenital myopathy , genetic disease , Hearing Loss, Noise-Induced Cntn6 adenoid cystic carcinoma , autism spectrum disorder , autistic disorder , Neurodevelopmental Disorders , schizophrenia Crebbp acute lymphoblastic leukemia , acute myeloid leukemia , adenoid cystic carcinoma , Agenesis of Corpus Callosum , alcohol use disorder , Alzheimer's disease , amyotrophic lateral sclerosis type 1 , Au-Kline Syndrome , autism spectrum disorder , Developmental Disabilities , diffuse large B-cell lymphoma , epilepsy , esophagus squamous cell carcinoma , follicular lymphoma , genetic disease , glaucoma , head and neck squamous cell carcinoma , hepatocellular carcinoma , Hirschsprung Disease 1 , Hirschsprung's disease , Huntington's disease , Idiopathic Generalized Epilepsy , intellectual disability , Joint Instability , Kohlschutter-Tonz syndrome , lung adenocarcinoma , Lung Reperfusion Injury , lung small cell carcinoma , lung squamous cell carcinoma , Marfanoid Mental Retardation Syndrome, Autosomal , Menke-Hennekam Syndrome , Menke-Hennekam Syndrome 1 , multiple myeloma , Muscle Hypotonia , myelodysplastic syndrome , Myocardial Reperfusion Injury , Nervous System Malformations , NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES , Neurodevelopmental Disorders , Pectus Carinatum , pre-eclampsia , Prostatic Neoplasms , Rubinstein-Taybi syndrome , scoliosis , Sezary's disease , short-rib thoracic dysplasia 9 with or without polydactyly , squamous cell carcinoma , teratoma , Thumb Deformity , transitional cell carcinoma , urinary bladder cancer , Uterine Cervical Neoplasms Ctbp1 cherubism , Colorectal Neoplasms , genetic disease , HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME , intellectual disability , microcephaly , Wittwer Syndrome , Wolf-Hirschhorn syndrome Ctbp2 Neoplasm Invasiveness , Neoplastic Cell Transformation , Prostatic Neoplasms , Pulmonary Atresia Cul1 cortical dysplasia-focal epilepsy syndrome , Stevens-Johnson syndrome , Weaver syndrome Dlk1 biliary atresia , central precocious puberty , Experimental Autoimmune Encephalomyelitis , Fetal Growth Retardation , genetic disease , hepatocellular carcinoma , high grade glioma , Kagami-Ogata syndrome , myelodysplastic syndrome , Silver-Russell Syndrome 1 Dll1 Brain Neoplasms , Breast Neoplasms , Chronic Pancreatitis , Experimental Autoimmune Encephalomyelitis , genetic disease , holoprosencephaly , NEURODEVELOPMENTAL DISORDER WITH NONSPECIFIC BRAIN ABNORMALITIES AND WITH OR WITHOUT SEIZURES , prostate cancer , temporal arteritis Dll3 Carpenter syndrome 2 , Congenital Abnormalities , congenital hypoplastic anemia , Craniofacial Abnormalities , craniosynostosis 1 , Diamond-Blackfan anemia , dysostosis , genetic disease , LEUKODYSTROPHY AND ACQUIRED MICROCEPHALY WITH OR WITHOUT DYSTONIA , malignant astrocytoma , maple syrup urine disease , maturity-onset diabetes of the young type 1 , osteochondrodysplasia , scoliosis , spondylocostal dysostosis , spondylocostal dysostosis 1 , Spondylocostal Dysostosis, Autosomal Recessive , syndactyly , type 2 diabetes mellitus Dll4 acute kidney failure , Adams-Oliver syndrome , Adams-Oliver Syndrome 6 , atherosclerosis , Bloom syndrome , breast cancer , Breast Neoplasms , Burns , Calcification of Aortic Valve , Cardiomegaly , Choroidal Neovascularization , Choroidal Neovascularization, Experimental , colorectal cancer , diabetes mellitus , diabetic retinopathy , double outlet right ventricle , Experimental Autoimmune Encephalomyelitis , Experimental Autoimmune Uveitis , Focal Nodular Hyperplasia , genetic disease , hemangioblastoma , hemangiopericytoma , high grade glioma , ischemia , limb ischemia , lung adenocarcinoma , lung large cell carcinoma , lung small cell carcinoma , mosaic variegated aneuploidy syndrome 1 , Myocardial Ischemia , Oxygen-Induced Retinopathy , Plaque, Atherosclerotic , polycystic kidney disease , pulmonary hypertension , renal cell carcinoma , retinopathy of prematurity , Surgical Wound , Temporomandibular Joint Osteoarthritis , transient cerebral ischemia , varicose veins , Vascular Malformations , Vascular Neoplasms Dnm1 Alzheimer's disease , cerebellar ataxia , developmental and epileptic encephalopathy , developmental and epileptic encephalopathy 1 , developmental and epileptic encephalopathy 31A , developmental and epileptic encephalopathy 31B , Developmental Disease , Dog Diseases , dystonia , early infantile epileptic encephalopathy , epilepsy , Exercise Intolerance , generalized epilepsy , genetic disease , myoclonic-atonic epilepsy , Neurodevelopmental Disorders , primary coenzyme Q10 deficiency 7 , West syndrome Dtx1 oligodendroglioma , pancreatic ductal carcinoma Dtx2 Brain Neoplasms , Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-MB , genetic disease , pleomorphic xanthoastrocytoma Dtx3 Breast Neoplasms , cataract 15 multiple types , Charcot-Marie-Tooth disease axonal type 2U , familial melanoma , INTERSTITIAL LUNG AND LIVER DISEASE , paraplegia Dtx3l alkaptonuria , familial hypocalciuric hypercalcemia , Primary Lymphedema with Myelodysplasia Dtx4 adenoid cystic carcinoma , intellectual disability , leukocyte adhesion deficiency 3 , pancreatic ductal carcinoma Dvl1 autosomal dominant Robinow syndrome 1 , autosomal dominant Robinow syndrome 2 , chromosome 1p36 deletion syndrome , congenital myasthenic syndrome 8 , DiGeorge syndrome , dilated cardiomyopathy 1LL , disease of mental health , Ehlers-Danlos syndrome spondylodysplastic type 2 , genetic disease , Goldberg-Shprintzen syndrome , Idiopathic Generalized Epilepsy , immunodeficiency 16 , immunodeficiency 38 , Joubert syndrome 25 , myocardial infarction , Neurodevelopmental Disorders , Peroxisome Biogenesis Disorder, Complementation Group 7 , Robinow syndrome , Shprintzen-Goldberg Craniosynostosis Dvl3 3-methylcrotonyl-CoA carboxylase 1 deficiency , autosomal dominant Robinow syndrome 1 , autosomal dominant Robinow syndrome 2 , autosomal dominant Robinow syndrome 3 , congenital disorder of glycosylation Id , Currarino syndrome , Dwarfism , genetic disease , lung cancer , Robinow syndrome Eno1 Acute Coronary Syndrome , adenocarcinoma , Alzheimer's disease , Animal Disease Models , Animal Mammary Neoplasms , Breast Neoplasms , carcinoma , Chemical and Drug Induced Liver Injury , chromosome 1p36 deletion syndrome , COVID-19 , Esophageal Neoplasms , Experimental Mammary Neoplasms , hepatocellular carcinoma , hypertension , lung adenocarcinoma , lung non-small cell carcinoma , male infertility , Mouth Neoplasms , Neoplasm Invasiveness , Neurodevelopmental Disorders , osteoarthritis , osteoporosis , perinatal necrotizing enterocolitis , rheumatoid arthritis , squamous cell carcinoma , Stomach Neoplasms Ep300 adenoid cystic carcinoma , adenylosuccinase lyase deficiency , Agenesis of Corpus Callosum , alcohol use disorder , Alzheimer's disease , autosomal dominant cerebellar ataxia , Brain Hypoxia , breast carcinoma , Breast Neoplasms , cardiac arrest , Cardiomegaly , cardiomyopathy , CHARGE syndrome , clear cell renal cell carcinoma , colon carcinoma , colorectal cancer , colorectal carcinoma , Colorectal Neoplasms , common variable immunodeficiency 4 , congenital diaphragmatic hernia , congenital muscular dystrophy-dystroglycanopathy type A1 , congenital myopathy 5 , congestive heart failure , Craniofacial Abnormalities , developmental and epileptic encephalopathy 18 , Diabetic Nephropathies , diabetic retinopathy , Dwarfism , Endometrial Neoplasms , Endotoxemia , esophagus squamous cell carcinoma , Experimental Diabetes Mellitus , genetic disease , glomerulonephritis , heart disease , hepatoblastoma , hepatocellular carcinoma , hereditary breast ovarian cancer syndrome , Hittner Hirsch Kreh Syndrome , Huntington's disease , Hyperalgesia , hypertension , idiopathic pulmonary fibrosis , intellectual disability , Kidney Reperfusion Injury , lung adenocarcinoma , lung small cell carcinoma , melanoma , membranoproliferative glomerulonephritis , Menke-Hennekam Syndrome 2 , microcephaly , Multicystic Dysplastic Kidney , Multiple Abnormalities , nephronophthisis-like nephropathy 1 , Nervous System Lead Poisoning , Neurodevelopmental Disorders , obesity , Optic Nerve Injuries , Painful Neuropathy , prostate cancer , Reperfusion Injury , Rubinstein-Taybi syndrome , Sepsis , Spinocerebellar Ataxias , squamous cell carcinoma , Stevens-Johnson syndrome , systemic lupus erythematosus , T-cell non-Hodgkin lymphoma , Thumb Deformity , transient cerebral ischemia , transitional cell carcinoma , type 2 diabetes mellitus , urinary bladder cancer Fbxw7 adenoid cystic carcinoma , basal cell carcinoma , Breast Neoplasms , colorectal cancer , developmental delay, hypotonia, and impaired language , Developmental Disabilities , Endometrial Neoplasms , esophagus squamous cell carcinoma , genetic disease , Genomic Instability , high grade glioma , Liver Metastasis , lung squamous cell carcinoma , Neurodevelopmental Disorders , pervasive developmental disorder , skin melanoma , T-cell acute lymphoblastic leukemia Furin Animal Mammary Neoplasms , arteriosclerosis , Bloom syndrome , carcinoma , coronary artery disease , D-2-hydroxyglutaric aciduria 2 , Experimental Diabetes Mellitus , Experimental Mammary Neoplasms Gata3 acute lymphoblastic leukemia , adult T-cell leukemia/lymphoma , Animal Mammary Neoplasms , asthma , B-lymphoblastic leukemia/lymphoma , Bronchial Hyperreactivity , CAKUT , Carcinogenesis , carcinoma , COVID-19 , Delayed Hypersensitivity , end stage renal disease , Eosinophilia , Experimental Mammary Neoplasms , Gastro-Enteropancreatic Neuroendocrine Tumor , genetic disease , Hearing Loss , Hodgkin's lymphoma , hypoparathyroidism , hypoparathyroidism-deafness-renal disease syndrome , Inflammation , Metaplasia , nephrosis , neuroblastoma , Neurodevelopmental Disorders , rheumatoid arthritis , sensorineural hearing loss , Sepsis Hdac1 acute lymphoblastic leukemia , alopecia areata , breast carcinoma , cervix uteri carcinoma in situ , colorectal cancer , demyelinating disease , Endometrial Neoplasms , endometriosis , Experimental Diabetes Mellitus , Fetal Growth Retardation , genetic disease , glaucoma , heart disease , Huntington's disease , multiple sclerosis , myelodysplastic syndrome , Ovarian Neoplasms , pancreatic ductal carcinoma , Pancreatic Intraepithelial Neoplasia , primary pulmonary hypertension , prostate carcinoma in situ , Prostatic Neoplasms , pulmonary hypertension , rheumatoid arthritis , Right Ventricular Hypertrophy , squamous cell carcinoma , Stroke , tauopathy , type 1 diabetes mellitus , type 2 diabetes mellitus , Uterine Cervical Neoplasms Hdac2 acute kidney failure , acute lymphoblastic leukemia , alcohol use disorder , alopecia areata , Alzheimer's disease , anxiety disorder , asthma , body dysmorphic disorder , bronchitis , Cardiomegaly , cervix uteri carcinoma in situ , chronic obstructive pulmonary disease , cognitive disorder , Colonic Neoplasms , Colonic Polyps , Diabetic Nephropathies , Emphysema , Endometrial Neoplasms , endometriosis , Experimental Diabetes Mellitus , Experimental Seizures , familial adenomatous polyposis , fetal alcohol spectrum disorder , Fetal Growth Retardation , genetic disease , hepatocellular carcinoma , liver cirrhosis , melanoma , Memory Disorders , Microsatellite Instability , middle cerebral artery infarction , myeloid leukemia , Ovarian Neoplasms , Peyronie's disease , prostate carcinoma , pulmonary emphysema , pulmonary hypertension , Retina Reperfusion Injury , squamous cell carcinoma , stomach cancer , Stroke , temporal lobe epilepsy , type 1 diabetes mellitus , type 2 diabetes mellitus , Uterine Cervical Neoplasms Hes1 acute kidney failure , amyotrophic lateral sclerosis , Breast Neoplasms , Cardiomegaly , chronic myeloid leukemia , Colonic Neoplasms , diabetes mellitus , diabetic retinopathy , epilepsy , glioblastoma , hemangiopericytoma , Hypertrophic Cicatrix , Lung Neoplasms , lung non-small cell carcinoma , lymphangioleiomyomatosis , meningioma , oligodendroglioma , oral squamous cell carcinoma , pancreatic ductal carcinoma , Primitive Neuroectodermal Tumors , schizophrenia , ureteral obstruction , Uterine Cervical Neoplasms Hes5 Brain Neoplasms , chromosome 1p36 deletion syndrome , diabetes mellitus , dilated cardiomyopathy 1LL , Ehlers-Danlos syndrome spondylodysplastic type 2 , Goldberg-Shprintzen syndrome , immunodeficiency 16 , immunodeficiency 38 , Joubert syndrome 25 , nervous system disease , Neurodevelopmental Disorders , Peroxisome Biogenesis Disorder, Complementation Group 7 , Shprintzen-Goldberg Craniosynostosis Hes7 common variable immunodeficiency , cone-rod dystrophy 6 , craniosynostosis , Diamond-Blackfan anemia , Dwarfism , dyskeratosis congenita , genetic disease , hypophosphatemia , intellectual disability , Li-Fraumeni syndrome , microcephaly , mitral valve insufficiency , osteochondrodysplasia , scoliosis , spondylocostal dysostosis , spondylocostal dysostosis 2 , spondylocostal dysostosis 4 , Spondylocostal Dysostosis, Autosomal Recessive , Sprengel Deformity , very long chain acyl-CoA dehydrogenase deficiency Hey1 amyotrophic lateral sclerosis , atherosclerosis , autism spectrum disorder , Breast Neoplasms , Carotid Artery Injuries , diabetes mellitus , glioblastoma , hemangioblastoma , hemangiopericytoma , Lung Neoplasms , malignant astrocytoma , oligodendroglioma , pancreatic ductal carcinoma , Primitive Neuroectodermal Tumors , pulmonary hypertension , ureteral obstruction Hey2 aortic valve disease , Breast Neoplasms , Brugada syndrome , Carotid Artery Injuries , diabetic retinopathy , hemangiopericytoma , hypertrophic cardiomyopathy , malignant astrocytoma , pancreatic ductal carcinoma , tetralogy of Fallot , ureteral obstruction , varicose veins Heyl Breast Neoplasms , Carotid Artery Injuries , Charcot-Marie-Tooth disease dominant intermediate C Il4 Acute Experimental Pancreatitis , Acute Hepatitis , Acute Lung Injury , acute myocardial infarction , adult T-cell leukemia/lymphoma , allergic contact dermatitis , allergic disease , allergic rhinitis , alopecia universalis , Alzheimer's disease , Anaphylaxis , anogenital venereal wart , anti-basement membrane glomerulonephritis , aspirin-induced respiratory disease , asthma , atopic dermatitis , autistic disorder , autoimmune disease , autoimmune hepatitis , autoimmune thrombocytopenic purpura , autoimmune thyroiditis , Behcet's disease , biliary tract benign neoplasm , Bovine Tuberculosis , Brain Injuries , bronchiolitis obliterans , cardiomyopathy , carotid stenosis , Chemical and Drug Induced Liver Injury , cholestasis , Chromosome Breakage , Chronic Hepatitis B , Chronic Hepatitis C , cognitive disorder , colitis , common cold , contact dermatitis , COVID-19 , cutaneous leishmaniasis , cystic echinococcosis , cystitis , dermatitis , dermatomyositis , drug allergy , Drug Eruptions , Edema , Experimental Arthritis , Experimental Autoimmune Encephalomyelitis , Experimental Autoimmune Uveoretinitis , Experimental Diabetes Mellitus , Experimental Liver Cirrhosis , familial adenomatous polyposis 1 , Fibrosis , Gaucher's disease , Granuloma , Graves' disease , Hand Osteoarthritis , Hemorrhagic Shock , hepatitis B , hepatitis C , Hereditary Neoplastic Syndromes , herpes zoster , high grade glioma , Human Influenza , hypothyroidism , Immediate Hypersensitivity , irritant dermatitis , Kawasaki disease , Knee Osteoarthritis , leishmaniasis , Lung Reperfusion Injury , malignant mesothelioma , Meningococcal Infections , metabolic dysfunction-associated steatotic liver disease , middle cerebral artery infarction , multiple sclerosis , Nematode Infections , nephritis , nephrotic syndrome , Neurodevelopmental Disorders , Otitis Media with Effusion , pancreatic cancer , pancreatic ductal carcinoma , pelvic inflammatory disease , Perennial Allergic Rhinitis , pleural disease , pneumoconiosis , pneumonia , polymyositis , Premature Birth , primary biliary cholangitis , primary cutaneous T-cell non-Hodgkin lymphoma , psoriasis , pulmonary fibrosis , pulmonary hypertension , pulmonary tuberculosis , respiratory allergy , Respiratory Sounds , Respiratory Tract Infections , rhinitis , Rhinosinusitis , Seasonal Allergic Rhinitis , Sepsis , Sjogren's syndrome , Spinal Cord Injuries , Staphylococcal Infections , Stroke , systemic lupus erythematosus , systemic scleroderma , temporal arteritis , toxocariasis , trypanosomiasis , type 1 diabetes mellitus , vitiligo , Weight Loss , Xerostomia Itch genetic disease , glutathione synthetase deficiency , glutatione synthetase deficiency with 5-oxoprolinuria , hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase , long QT syndrome , Multisystem Autoimmune Disease with Facial Dysmorphism , Obesity and Hypopigmentation Jag1 adenoid cystic carcinoma , Alagille syndrome , ALAGILLE SYNDROME 1 , amyotrophic lateral sclerosis , aortic aneurysm , Aortic Coarctation , autism spectrum disorder , Bardet-Biedl syndrome , bone disease , Breast Neoplasms , CAKUT , Carotid Artery Injuries , Charcot-Marie-Tooth Disease Axonal Type 2HH , Chronic Pancreatitis , congenital heart disease , congenital myasthenic syndrome 18 , Corneal Opacity , Deafness , Deafness, Congenital Heart Defects, and Posterior Embryotoxon , developmental and epileptic encephalopathy 12 , diabetic retinopathy , Endometrial Neoplasms , Experimental Arthritis , Experimental Autoimmune Encephalomyelitis , Eye Abnormalities , Facies , Flatfoot , fundus dystrophy , genetic disease , glioblastoma , hepatoblastoma , hepatocellular carcinoma , liver cancer , Lung Neoplasms , multiple sclerosis , osteoarthritis , pancreatic ductal carcinoma , pulmonary fibrosis , Salivary Gland Neoplasms , scoliosis , temporal arteritis , tetralogy of Fallot Jag2 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 27 , Breast Neoplasms , Charcot-Marie-Tooth disease axonal type 2O , Craniofacial Abnormalities , focal segmental glomerulosclerosis 5 , glioblastoma , immunodeficiency 132A , lymphangioleiomyomatosis , pancreatic ductal carcinoma , syndactyly Kat2a hepatitis B , lung non-small cell carcinoma , neural tube defect , Spinocerebellar Ataxias Kat2b 3p deletion syndrome , breast cancer , Coronary Disease , esophagus squamous cell carcinoma , hepatocellular carcinoma , rheumatoid arthritis Kdm1a 3-hydroxy-3-methylglutaryl-CoA lyase deficiency , ACTH-independent Macronodular Adrenal Hyperplasia 3 , alopecia areata , breast cancer , castration-resistant prostate carcinoma , Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features , Colonic Neoplasms , Critical Illness , Developmental Disabilities , diabetic retinopathy , Diamond-Blackfan anemia , Disease Progression , Experimental Melanoma , genetic disease , hepatocellular carcinoma , Hyperplasia , intellectual disability , lung non-small cell carcinoma , melanoma , Neoplasm Invasiveness , schizophrenia , T-cell non-Hodgkin lymphoma , transient cerebral ischemia Lfng genetic disease , immunodeficiency 11A , Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal , spondylocostal dysostosis 2 , spondylocostal dysostosis 3 , Spondylocostal Dysostosis, Autosomal Recessive Lnx1 head and neck squamous cell carcinoma Maml1 amyotrophic lateral sclerosis , Ehlers-Danlos syndrome dermatosparaxis type , frontotemporal dementia and/or amyotrophic lateral sclerosis 1 , prostate cancer , Sotos syndrome Maml2 ataxia telangiectasia , intellectual disability , juvenile rheumatoid arthritis Maml3 adenoid cystic carcinoma , congenital heart disease , sarcoma , sinonasal undifferentiated carcinoma Mark2 adenoid cystic carcinoma , autism spectrum disorder , autistic disorder , Developmental Disease , epilepsy , intellectual disability , leukocyte adhesion deficiency 3 , Salivary Gland Neoplasms Mfap2 chromosome 1p36 deletion syndrome , ovarian cyst Mfap5 connective tissue disease , developmental and epileptic encephalopathy 21 , Familial Thoracic Aortic Aneurysm 9 , Hyperphosphatemic Familial Tumoral Calcinosis 1 , Klippel-Feil syndrome 3 , lymphoproliferative syndrome 2 , peroxisome biogenesis disorder 2B , Temtamy syndrome , thoracic aortic aneurysm Mfng adenylosuccinase lyase deficiency , Emery-Dreifuss muscular dystrophy , myoclonic dystonia 26 , neurodegeneration with brain iron accumulation 2A Mib1 Atrioventricular Septal Defect 5 , autism spectrum disorder , familial hypertrophic cardiomyopathy , genetic disease , intellectual disability , Left Ventricular Noncompaction 7 , Niemann-Pick disease type C1 , Paroxysmal Atrial Fibrillation Myc Aberrant Crypt Foci , acute kidney failure , acute lymphoblastic leukemia , acute myeloid leukemia , acute promyelocytic leukemia , adenocarcinoma , Alcoholic Liver Diseases , angiosarcoma , Animal Disease Models , atherosclerosis , autosomal dominant polycystic kidney disease , autosomal recessive polycystic kidney disease , B-lymphoblastic leukemia/lymphoma , breast cancer , Breast Neoplasms , Burkitt lymphoma , carcinoma , Cardiomegaly , Carotid Artery Injuries , cholesteatoma of middle ear , Chromosome Breakage , chronic lymphocytic leukemia , clear cell renal cell carcinoma , cleft lip , cleft palate , Colonic Neoplasms , Colorectal Neoplasms , coronary restenosis , COVID-19 , demyelinating disease , Diabetic Cardiomyopathies , diffuse large B-cell lymphoma , disease of cellular proliferation , Disease Progression , Ductal Carcinoma , Endometrial Neoplasms , Esophageal Neoplasms , Experimental Diabetes Mellitus , Experimental Liver Cirrhosis , Experimental Liver Neoplasms , Experimental Mammary Neoplasms , glioblastoma , Hemorrhagic Shock , hepatitis C , hepatocellular carcinoma , Hodgkin's lymphoma , hyperparathyroidism , hypertrophic cardiomyopathy , Kidney Reperfusion Injury , Left Ventricular Hypertrophy , leiomyoma , liver cirrhosis , Liver Injury , Liver Neoplasms , lung adenocarcinoma , lung cancer , Lung Neoplasms , lung non-small cell carcinoma , Lung Reperfusion Injury , lung small cell carcinoma , medulloblastoma , Merkel cell carcinoma , myelodysplastic syndrome , Neoplasm Metastasis , Neoplastic Cell Transformation , nephroblastoma , neuroblastoma , neuroectodermal tumor , obesity , osteoporosis , osteosarcoma , Ovarian Neoplasms , pancreatic cancer , pancreatic carcinoma , papillary thyroid carcinoma , polycystic kidney disease , polycystic kidney disease 1 , primary ovarian insufficiency , prolactinoma , prostate adenocarcinoma , prostate cancer , prostate carcinoma in situ , prostatic hypertrophy , Prostatic Neoplasms , pulmonary hypertension , renal cell carcinoma , renal fibrosis , rhabdoid cancer , Sporadic Papillary Renal Cell Carcinoma , squamous cell carcinoma , steatotic liver disease , Stomach Neoplasms , thyroid cancer , Transplant Rejection , trichorhinophalangeal syndrome type I , urinary bladder cancer , Uterine Cervical Neoplasms Mycbp adenoid cystic carcinoma , Charcot-Marie-Tooth disease dominant intermediate C Ncor1 Acute-Phase Reaction , anxiety disorder , Breast Cancer, Familial , Breast Neoplasms , Developmental Disabilities , endometriosis , glioblastoma , Huntington's disease , hypothyroidism , Liver Neoplasms , mitochondrial complex III deficiency nuclear type 1 , mitochondrial complex III deficiency nuclear type 2 , Neonatal Hyperbilirubinemia , polycystic ovary syndrome , Prostatic Neoplasms , transitional cell carcinoma , urinary bladder cancer Ncor2 breast cancer , endometrial carcinoma , Experimental Liver Cirrhosis , multiple myeloma , myelofibrosis , osteoarthritis , Prostatic Neoplasms Ncstn alcohol use disorder , Alzheimer's disease , autoimmune interstitial lung, joint, and kidney disease , chronic myeloid leukemia , Familial Acne Inversa 1 , familial hemiplegic migraine , Familial Hidradenitis Suppurativa , gastrointestinal stromal tumor , genetic disease , parathyroid carcinoma , peroxisome biogenesis disorder 12A , schizophrenia , traumatic brain injury , urinary bladder cancer Neurl1 atrial fibrillation , Colorectal Neoplasms , desmoplastic/nodular medulloblastoma , Experimental Seizures Neurl2 adenosine deaminase deficiency , focal epilepsy , galactosialidosis , T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations Notch1 Adams-Oliver syndrome , Adams-Oliver Syndrome 2 , Adams-Oliver Syndrome 5 , adenoid cystic carcinoma , adenoiditis , adult T-cell leukemia/lymphoma , amyotrophic lateral sclerosis , aortic valve disease , aortic valve disease 1 , ARTERIAL DISSECTION , atherosclerosis , autism spectrum disorder , autosomal dominant intellectual developmental disorder 8 , autosomal dominant nocturnal frontal lobe epilepsy 5 , autosomal recessive limb-girdle muscular dystrophy type 2A , bicuspid aortic valve disease , Breast Neoplasms , Calcification of Aortic Valve , calcinosis , Cardiomegaly , Cardiovascular Abnormalities , Carotid Artery Injuries , Chemical and Drug Induced Liver Injury , cholangiocarcinoma , cholesteatoma of middle ear , Colonic Neoplasms , Congenital Abnormalities , congenital heart disease , connective tissue disease , Craniofacial Abnormalities , developmental and epileptic encephalopathy 14 , Diabetic Cardiomyopathies , Diabetic Foot , diabetic retinopathy , Ehlers-Danlos syndrome classic type 1 , Ehlers-Danlos syndrome hypermobility type , endometrial cancer , epilepsy , esophageal atresia , esophagus squamous cell carcinoma , Experimental Autoimmune Uveitis , Experimental Liver Neoplasms , Focal Nodular Hyperplasia , genetic disease , glioblastoma , heart valve disease , hemangiopericytoma , Hypertrophic Cicatrix , hypoplastic left heart syndrome , Joubert syndrome 1 , keratoacanthoma , Kleefstra syndrome 1 , Leigh disease , lung adenocarcinoma , lung large cell carcinoma , lung small cell carcinoma , lymphoma , malignant astrocytoma , Marfan syndrome , Marfanoid Hypermobility Syndrome , microphthalmia , myeloproliferative neoplasm , Myocardial Ischemia , Neoplastic Cell Transformation , nervous system disease , oral squamous cell carcinoma , pancreatic cancer , pancreatic ductal carcinoma , Peritoneal Diseases , primary coenzyme Q10 deficiency 7 , prion disease , Pulmonary Arterial Hypertension , pulmonary fibrosis , pulmonary hypertension , Rafiq syndrome , retinopathy of prematurity , scoliosis , SHONE COMPLEX , Skin Neoplasms , Splenomegaly , squamous cell carcinoma , Surgical Wound , syndromic microphthalmia 5 , T-cell acute lymphoblastic leukemia , tetralogy of Fallot , thoracic aortic aneurysm , transient cerebral ischemia , tuberous sclerosis 1 , Uterine Cervical Neoplasms , Vascular Malformations Notch2 Acroosteolysis Dominant Type , Alagille syndrome , ALAGILLE SYNDROME 2 , autism spectrum disorder , Breast Neoplasms , CAKUT , Carotid Artery Injuries , esophagus squamous cell carcinoma , Fibrosis , Follicular Cyst , Gastro-Enteropancreatic Neuroendocrine Tumor , genetic disease , glioblastoma , Hajdu-Cheney syndrome , hereditary breast ovarian cancer syndrome , Hirschsprung Disease 1 , Hirschsprung's disease , IgA glomerulonephritis , keratoacanthoma , kidney failure , Lung Neoplasms , malignant astrocytoma , Monoclonal B-Cell Lymphocytosis , multiple myeloma , Neoplasm Invasiveness , PHGDH deficiency , pre-eclampsia , Prenatal Exposure Delayed Effects , primary ovarian insufficiency , Primitive Neuroectodermal Tumors , Skin Neoplasms , squamous cell carcinoma , Stomach Neoplasms , type 2 diabetes mellitus , Uterine Cervical Neoplasms , VACTERL association Notch3 acute lymphoblastic leukemia , Auditory Neuropathy , autism spectrum disorder , breast ductal carcinoma , Breast Neoplasms , CADASIL , CADASIL 1 , CADASIL2 , Carotid Artery Injuries , cerebral cavernous malformation , cerebral infarction , depressive disorder , esophagus squamous cell carcinoma , genetic disease , glioblastoma , hepatocellular carcinoma , infantile myofibromatosis , Infantile Myofibromatosis 1 , Infantile Myofibromatosis 2 , Infarction , invasive ductal carcinoma , lateral meningocele syndrome , Lung Neoplasms , lung non-small cell carcinoma , migraine , migraine with aura , migraine without aura , pancreatic ductal carcinoma , Progressive Psychomotor Deterioration , prostate cancer , Pulmonary Arterial Hypertension , Skin Neoplasms , Sneddon syndrome , squamous cell carcinoma , Stroke , vascular dementia Notch4 AIDS-Associated Nephropathy , alopecia areata , Animal Mammary Neoplasms , arteriosclerosis , arteriovenous malformations of the brain , autism spectrum disorder , Breast Neoplasms , dementia , ductal carcinoma in situ , endometrial cancer , Experimental Mammary Neoplasms , hemangioblastoma , hemangiopericytoma , Hirschsprung's disease , Hypertrophic Cicatrix , multiple sclerosis , pancreatic ductal carcinoma , proteasome-associated autoinflammatory syndrome 1 , rheumatoid arthritis , schizophrenia , Skin Neoplasms , squamous cell carcinoma , syndromic microphthalmia 5 , systemic scleroderma , type 1 diabetes mellitus Numb intellectual disability Numbl Carpenter syndrome 2 , congenital hypoplastic anemia , craniosynostosis 1 , Diamond-Blackfan anemia , maple syrup urine disease Pofut1 Dowling-Degos disease , Dowling-Degos Disease 2 , genetic disease , immunodeficiency-centromeric instability-facial anomalies syndrome 1 Psen1 Alzheimer's disease , Alzheimer's disease 3 , Alzheimer's disease 4 , Alzheimer's Disease, Familial, 3, with Spastic Paraparesis , Alzheimer's Disease, Familial, 3, with Spastic Paraparesis and Apraxia , Alzheimer's Disease, Familial, 3, with Spastic Paraparesis and Unusual Plaques , Amyloid Neuropathies , Amyloid Plaques , amyloidosis , Animal Disease Models , asphyxia neonatorum , cardiomyopathy , cerebral amyloid angiopathy , Cerebral Hemorrhage , cognitive disorder , Cognitive Dysfunction , dilated cardiomyopathy , dilated cardiomyopathy 1U , Familial Acne Inversa 3 , Familial Hidradenitis Suppurativa , frontotemporal dementia , genetic disease , Gliosis , Hallucinations , Hereditary Hemorrhagic Telangiectasia, Type 1 , intellectual disability , Intracranial Hemorrhages , learning disability , Memory Disorders , Nerve Degeneration , Nervous System Malformations , neurodegenerative disease , Pick's disease , Splenomegaly , traumatic brain injury Psen2 Alzheimer's disease , Alzheimer's disease 4 , asphyxia neonatorum , breast cancer , Breast Neoplasms , COVID-19 , dilated cardiomyopathy , dilated cardiomyopathy 1V , gastrointestinal stromal tumor , genetic disease , Huntington's Disease-Like Syndrome , parathyroid carcinoma , Presenile and Senile Dementia , pulmonary fibrosis , Pulmonary Hemorrhage , vascular dementia Psenen Brugada syndrome 5 , dystonia , Familial Acne Inversa 2 , Familial Hidradenitis Suppurativa , hereditary spastic paraplegia 75 Ptcra Immunodeficiency 126 , infantile Refsum disease , polycystic ovary syndrome , Zellweger syndrome Rab11a Bloom syndrome , Chloracne , colorectal cancer , intellectual disability , microcephaly , nemaline myopathy 6 , neuronal ceroid lipofuscinosis , primary microcephaly Rbbp8 COVID-19 , genetic disease , intellectual disability , microcephaly , Microcephaly with Mental Retardation and Digital Anomalies , multiple myeloma , Niemann-Pick disease type C1 , pancreatic carcinoma , Seckel syndrome , Seckel syndrome 2 Rbpj Adams-Oliver syndrome , Adams-Oliver Syndrome 3 , aortic valve disease , dilated cardiomyopathy , endometriosis , genetic disease , maturity-onset diabetes of the young type 1 , multiple sclerosis , rheumatoid arthritis , schizophrenia , type 2 diabetes mellitus Rbpjl adenosine deaminase deficiency , focal epilepsy , maturity-onset diabetes of the young type 1 , T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations , type 2 diabetes mellitus Rfng Weight Gain Skp1 familial adenomatous polyposis 1 , Hereditary Neoplastic Syndromes , Keratoconus 1 , Neurodevelopmental Disorders Skp2 Brain Injuries , breast cancer , cervix uteri carcinoma in situ , diffuse large B-cell lymphoma , disease of cellular proliferation , endometrial hyperplasia , Endometrial Neoplasms , hepatocellular carcinoma , lung small cell carcinoma , Lymphatic Metastasis , medulloblastoma , Neurodevelopmental Disorders , oral squamous cell carcinoma , Ovarian Neoplasms , prostate cancer , prostate carcinoma , renal cell carcinoma , Spine Osteoarthritis , transitional cell carcinoma , Uterine Cervical Neoplasms Snw1 Brain Injuries , breast cancer , breast carcinoma , hepatocellular carcinoma , Optic Nerve Injuries , pancreatic cancer , sciatic neuropathy Spen autism spectrum disorder , brain disease , breast ductal carcinoma , chromosome 1p36 deletion syndrome , Developmental Disease , esophagus squamous cell carcinoma , genetic disease , invasive ductal carcinoma , myoepithelioma , nasopharynx carcinoma , Prostatic Neoplasms , RADIO-TARTAGLIA SYNDROME Yy1 Cardiomegaly , congestive heart failure , Diabetic Nephropathies , disease of cellular proliferation , Disease Progression , GABRIELE-DE VRIES SYNDROME , genetic disease , human immunodeficiency virus infectious disease , hypertrophic cardiomyopathy , intellectual disability , multiple myeloma , Neointima , Neurodevelopmental Disorders , pleuropulmonary blastoma , type 1 diabetes mellitus , Uterine Cervical Neoplasms
3-hydroxy-3-methylglutaryl-CoA lyase deficiency Kdm1a 3-methylcrotonyl-CoA carboxylase 1 deficiency Dvl3 3p deletion syndrome Kat2b Aberrant Crypt Foci Myc acoustic neuroma Cdkn1a Acroosteolysis Dominant Type Notch2 ACTH-independent Macronodular Adrenal Hyperplasia 3 Kdm1a Acute Coronary Syndrome Eno1 Acute Experimental Pancreatitis Cdkn1a , Il4 Acute Hepatitis Il4 acute kidney failure Dll4 , Hdac2 , Hes1 , Myc Acute Lung Injury Il4 acute lymphoblastic leukemia Ccnd1 , Crebbp , Gata3 , Hdac1 , Hdac2 , Myc , Notch3 acute myeloid leukemia Cbl , Ccnd1 , Crebbp , Myc acute myocardial infarction Il4 acute promyelocytic leukemia Myc Acute-Phase Reaction Ncor1 Adams-Oliver syndrome Dll4 , Notch1 , Rbpj Adams-Oliver Syndrome 2 Notch1 Adams-Oliver Syndrome 3 Rbpj Adams-Oliver Syndrome 5 Notch1 Adams-Oliver Syndrome 6 Dll4 adenocarcinoma Ccnd1 , Eno1 , Myc adenoid cystic carcinoma Ccnd1 , Cntn6 , Crebbp , Dtx4 , Ep300 , Fbxw7 , Jag1 , Maml3 , Mark2 , Mycbp , Notch1 adenoiditis Notch1 adenosine deaminase deficiency Neurl2 , Rbpjl adenylosuccinase lyase deficiency Ep300 , Mfng adult T-cell leukemia/lymphoma Gata3 , Il4 , Notch1 Agenesis of Corpus Callosum Crebbp , Ep300 Aicardi-Goutieres Syndrome 3 Ccnd1 AIDS-Associated Nephropathy Notch4 Alagille syndrome Jag1 , Notch2 ALAGILLE SYNDROME 1 Jag1 ALAGILLE SYNDROME 2 Notch2 alcohol use disorder Crebbp , Ep300 , Hdac2 , Ncstn Alcoholic Liver Diseases Myc alkaptonuria Dtx3l allergic contact dermatitis Il4 allergic disease Il4 allergic rhinitis Il4 alopecia areata Hdac1 , Hdac2 , Kdm1a , Notch4 alopecia universalis Il4 Alzheimer's disease Adam10 , Adam17 , Aph1a , Aph1b , Crebbp , Dnm1 , Eno1 , Ep300 , Hdac2 , Il4 , Ncstn , Psen1 , Psen2 Alzheimer's disease 18 Adam10 Alzheimer's disease 3 Psen1 Alzheimer's disease 4 Psen1 , Psen2 Alzheimer's Disease, Familial, 3, with Spastic Paraparesis Psen1 Alzheimer's Disease, Familial, 3, with Spastic Paraparesis and Apraxia Psen1 Alzheimer's Disease, Familial, 3, with Spastic Paraparesis and Unusual Plaques Psen1 Amyloid Neuropathies Psen1 Amyloid Plaques Psen1 amyloidosis Psen1 amyotrophic lateral sclerosis Hes1 , Hey1 , Jag1 , Maml1 , Notch1 amyotrophic lateral sclerosis type 1 Crebbp Anaphylaxis Il4 angiosarcoma Ccnd1 , Myc Animal Disease Models Eno1 , Myc , Psen1 Animal Mammary Neoplasms Ccnd1 , Cdkn1a , Eno1 , Furin , Gata3 , Notch4 anogenital venereal wart Il4 anti-basement membrane glomerulonephritis Il4 anxiety disorder Hdac2 , Ncor1 aortic aneurysm Jag1 Aortic Coarctation Jag1 aortic valve disease Hey2 , Notch1 , Rbpj aortic valve disease 1 Notch1 Arsenic Poisoning Cdkn1a ARTERIAL DISSECTION Notch1 arteriosclerosis Furin , Notch4 arteriovenous malformations of the brain Notch4 asphyxia neonatorum Psen1 , Psen2 aspirin-induced respiratory disease Il4 asthma Gata3 , Hdac2 , Il4 Ataxia Cntn1 ataxia telangiectasia Maml2 atherosclerosis Ccnd1 , Dll4 , Hey1 , Myc , Notch1 atopic dermatitis Adam17 , Il4 atrial fibrillation Cdkn1a , Neurl1 Atrioventricular Septal Defect 5 Mib1 Au-Kline Syndrome Crebbp Auditory Neuropathy Notch3 autism spectrum disorder Cntn6 , Crebbp , Hey1 , Jag1 , Mark2 , Mib1 , Notch1 , Notch2 , Notch3 , Notch4 , Spen autistic disorder Cntn6 , Il4 , Mark2 autoimmune disease Il4 autoimmune hepatitis Il4 autoimmune interstitial lung, joint, and kidney disease Ncstn autoimmune thrombocytopenic purpura Il4 autoimmune thyroiditis Il4 autosomal dominant cerebellar ataxia Ep300 autosomal dominant intellectual developmental disorder 8 Notch1 autosomal dominant nocturnal frontal lobe epilepsy 5 Notch1 autosomal dominant polycystic kidney disease Cdkn1a , Myc autosomal dominant Robinow syndrome 1 Dvl1 , Dvl3 autosomal dominant Robinow syndrome 2 Dvl1 , Dvl3 autosomal dominant Robinow syndrome 3 Dvl3 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 27 Jag2 autosomal recessive limb-girdle muscular dystrophy type 2A Notch1 autosomal recessive polycystic kidney disease Myc B-Cell Chronic Lymphocytic Leukemia Cbl B-lymphoblastic leukemia/lymphoma Ccnd1 , Gata3 , Myc B-lymphoblastic leukemia/lymphoma with hyperdiploidy Cbl Bardet-Biedl syndrome Jag1 Barrett's esophagus Cdkn1a basal cell carcinoma Fbxw7 Behcet's disease Il4 bicuspid aortic valve disease Notch1 biliary atresia Dlk1 biliary tract benign neoplasm Il4 Blister Adam17 Bloom syndrome Adam10 , Aph1b , Dll4 , Furin , Rab11a body dysmorphic disorder Hdac2 bone disease Jag1 Bovine Tuberculosis Il4 Bowen's Disease Ccnd1 , Cdkn1a brain disease Spen Brain Hypoxia Adam17 , Ep300 Brain Injuries Cdkn1a , Il4 , Skp2 , Snw1 Brain Neoplasms Ccnd1 , Dll1 , Dtx2 , Hes5 breast cancer Dll4 , Kat2b , Kdm1a , Myc , Ncor2 , Psen2 , Skp2 , Snw1 Breast Cancer, Familial Ncor1 breast carcinoma Ep300 , Hdac1 , Snw1 breast ductal carcinoma Notch3 , Spen Breast Neoplasms Adam10 , Ccnd1 , Cdkn1a , Dll1 , Dll4 , Dtx3 , Eno1 , Ep300 , Fbxw7 , Hes1 , Hey1 , Hey2 , Heyl , Jag1 , Jag2 , Myc , Ncor1 , Notch1 , Notch2 , Notch3 , Notch4 , Psen2 Bronchial Hyperreactivity Gata3 bronchiolitis obliterans Il4 bronchiolo-alveolar adenocarcinoma Ccnd1 bronchitis Hdac2 Brugada syndrome Hey2 Brugada syndrome 5 Psenen Burkitt lymphoma Myc Burns Ccnd1 , Dll4 CADASIL Notch3 CADASIL 1 Notch3 CADASIL2 Notch3 CAKUT Gata3 , Jag1 , Notch2 Calcification of Aortic Valve Dll4 , Notch1 calcinosis Notch1 Carcinogenesis Gata3 carcinoma Ccnd1 , Cdkn1a , Eno1 , Furin , Gata3 , Myc cardiac arrest Ep300 Cardiomegaly Dll4 , Ep300 , Hdac2 , Hes1 , Myc , Notch1 , Yy1 cardiomyopathy Adam10 , Ep300 , Il4 , Psen1 Cardiovascular Abnormalities Notch1 Carotid Artery Injuries Cbl , Hey1 , Hey2 , Heyl , Jag1 , Myc , Notch1 , Notch2 , Notch3 carotid stenosis Il4 Carpenter syndrome 2 Dll3 , Numbl castration-resistant prostate carcinoma Kdm1a cataract Adam10 cataract 15 multiple types Dtx3 CD3epsilon deficiency Cbl Cecal Neoplasms Ccnd1 central precocious puberty Dlk1 cerebellar ataxia Dnm1 cerebral amyloid angiopathy Psen1 cerebral cavernous malformation Notch3 Cerebral Hemorrhage Psen1 cerebral infarction Notch3 cervix uteri carcinoma in situ Ccnd1 , Cdkn1a , Hdac1 , Hdac2 , Skp2 Charcot-Marie-Tooth Disease Axonal Type 2HH Jag1 Charcot-Marie-Tooth disease axonal type 2O Jag2 Charcot-Marie-Tooth disease axonal type 2U Dtx3 Charcot-Marie-Tooth disease dominant intermediate C Heyl , Mycbp CHARGE syndrome Ep300 Chemical and Drug Induced Liver Injury Eno1 , Il4 , Notch1 cherubism Ctbp1 Chloracne Rab11a cholangiocarcinoma Notch1 cholestasis Il4 cholesteatoma of middle ear Cdkn1a , Myc , Notch1 Choroidal Neovascularization Dll4 Choroidal Neovascularization, Experimental Dll4 chromosome 11 partial duplication syndrome Cbl chromosome 1p36 deletion syndrome Dvl1 , Eno1 , Hes5 , Mfap2 , Spen Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-MB Dtx2 Chromosome Breakage Il4 , Myc Chronic Hepatitis B Il4 Chronic Hepatitis C Ccnd1 , Il4 chronic lymphocytic leukemia Myc chronic myeloid leukemia Hes1 , Ncstn chronic obstructive pulmonary disease Cdkn1a , Hdac2 Chronic Pancreatitis Dll1 , Jag1 clear cell renal cell carcinoma Ep300 , Myc cleft lip Myc cleft palate Myc Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features Kdm1a cognitive disorder Hdac2 , Il4 , Psen1 Cognitive Dysfunction Adam10 , Psen1 colitis Adam17 , Il4 colon adenoma Ccnd1 colon carcinoma Ep300 Colonic Neoplasms Ccnd1 , Cdkn1a , Hdac2 , Hes1 , Kdm1a , Myc , Notch1 Colonic Polyps Hdac2 colorectal cancer Adam10 , Aph1b , Cbl , Ccnd1 , Dll4 , Ep300 , Fbxw7 , Hdac1 , Rab11a colorectal carcinoma Ep300 Colorectal Neoplasms Ccnd1 , Ctbp1 , Ep300 , Myc , Neurl1 common cold Il4 common variable immunodeficiency Hes7 common variable immunodeficiency 4 Ep300 Compton-North congenital myopathy Cntn1 cone-rod dystrophy 6 Hes7 Congenital Abnormalities Dll3 , Notch1 Congenital Cholesteatoma Cdkn1a congenital diaphragmatic hernia Cbl , Ep300 congenital disorder of glycosylation Id Dvl3 congenital disorder of glycosylation Ij Cbl congenital heart disease Jag1 , Maml3 , Notch1 congenital hypoplastic anemia Dll3 , Numbl congenital muscular dystrophy-dystroglycanopathy type A1 Ep300 congenital myasthenic syndrome 13 Cbl congenital myasthenic syndrome 18 Jag1 congenital myasthenic syndrome 8 Dvl1 congenital myopathy 5 Ep300 congestive heart failure Adam17 , Cbl , Ep300 , Yy1 connective tissue disease Mfap5 , Notch1 contact dermatitis Il4 Corneal Opacity Jag1 coronary artery disease Aph1b , Furin Coronary Disease Kat2b coronary restenosis Myc cortical dysplasia-focal epilepsy syndrome Cul1 COVID-19 Cir1 , Eno1 , Gata3 , Il4 , Myc , Psen2 , Rbbp8 Craniofacial Abnormalities Dll3 , Ep300 , Jag2 , Notch1 craniosynostosis Hes7 craniosynostosis 1 Dll3 , Numbl Critical Illness Kdm1a cryptorchidism Cbl Currarino syndrome Dvl3 cutaneous leishmaniasis Il4 cystic echinococcosis Il4 cystitis Il4 D-2-hydroxyglutaric aciduria 2 Furin Deafness Jag1 Deafness, Congenital Heart Defects, and Posterior Embryotoxon Jag1 Delayed Hypersensitivity Gata3 dementia Notch4 demyelinating disease Hdac1 , Myc depressive disorder Notch3 dermatitis Il4 dermatomyositis Il4 desmoplastic/nodular medulloblastoma Neurl1 developmental and epileptic encephalopathy Dnm1 developmental and epileptic encephalopathy 1 Dnm1 developmental and epileptic encephalopathy 12 Jag1 developmental and epileptic encephalopathy 14 Notch1 developmental and epileptic encephalopathy 18 Ep300 developmental and epileptic encephalopathy 21 Mfap5 developmental and epileptic encephalopathy 31A Dnm1 developmental and epileptic encephalopathy 31B Dnm1 developmental delay, hypotonia, and impaired language Fbxw7 Developmental Disabilities Cbl , Crebbp , Fbxw7 , Kdm1a , Ncor1 Developmental Disease Dnm1 , Mark2 , Spen diabetes mellitus Dll4 , Hes1 , Hes5 , Hey1 Diabetic Cardiomyopathies Myc , Notch1 Diabetic Foot Notch1 Diabetic Nephropathies Cdkn1a , Ep300 , Hdac2 , Yy1 diabetic retinopathy Dll4 , Ep300 , Hes1 , Hey2 , Jag1 , Kdm1a , Notch1 Diamond-Blackfan anemia Dll3 , Hes7 , Kdm1a , Numbl diffuse large B-cell lymphoma Crebbp , Myc , Skp2 DiGeorge syndrome Dvl1 dilated cardiomyopathy Psen1 , Psen2 , Rbpj dilated cardiomyopathy 1LL Dvl1 , Hes5 dilated cardiomyopathy 1U Psen1 dilated cardiomyopathy 1V Psen2 Dilated Cardiomyopathy with Left Ventricular Noncompaction Cbl disease of cellular proliferation Myc , Skp2 , Yy1 disease of mental health Dvl1 Disease Progression Ccnd1 , Kdm1a , Myc , Yy1 distal 10q deletion syndrome Adam12 Dog Diseases Dnm1 double outlet right ventricle Dll4 Dowling-Degos disease Adam10 , Pofut1 Dowling-Degos Disease 2 Pofut1 drug allergy Il4 Drug Eruptions Il4 Ductal Carcinoma Myc ductal carcinoma in situ Ccnd1 , Cdkn1a , Notch4 Dwarfism Cbl , Dvl3 , Ep300 , Hes7 dyskeratosis congenita Hes7 dysostosis Dll3 dystonia Dnm1 , Psenen early infantile epileptic encephalopathy Dnm1 Edema Il4 Ehlers-Danlos syndrome classic type 1 Notch1 Ehlers-Danlos syndrome dermatosparaxis type Maml1 Ehlers-Danlos syndrome hypermobility type Notch1 Ehlers-Danlos syndrome spondylodysplastic type 2 Dvl1 , Hes5 Embryo Loss Cdkn1a Emery-Dreifuss muscular dystrophy Mfng Emphysema Hdac2 end stage renal disease Gata3 endometrial cancer Notch1 , Notch4 endometrial carcinoma Ncor2 endometrial hyperplasia Skp2 Endometrial Neoplasms Ccnd1 , Cdkn1a , Ep300 , Fbxw7 , Hdac1 , Hdac2 , Jag1 , Myc , Skp2 endometriosis Hdac1 , Hdac2 , Ncor1 , Rbpj Endotoxemia Ep300 Eosinophilia Gata3 epilepsy Crebbp , Dnm1 , Hes1 , Mark2 , Notch1 esophageal atresia Notch1 Esophageal Neoplasms Ccnd1 , Cdkn1a , Eno1 , Myc esophagus squamous cell carcinoma Ccnd1 , Cdkn1a , Crebbp , Ep300 , Fbxw7 , Kat2b , Notch1 , Notch2 , Notch3 , Spen Exercise Intolerance Dnm1 Experimental Arthritis Adam10 , Adam17 , Cbl , Il4 , Jag1 Experimental Autoimmune Encephalomyelitis Adam17 , Dlk1 , Dll1 , Dll4 , Il4 , Jag1 Experimental Autoimmune Uveitis Dll4 , Notch1 Experimental Autoimmune Uveoretinitis Il4 Experimental Colitis Adam17 Experimental Diabetes Mellitus Cdkn1a , Ep300 , Furin , Hdac1 , Hdac2 , Il4 , Myc Experimental Leukemia Cbl Experimental Liver Cirrhosis Adam17 , Cdkn1a , Il4 , Myc , Ncor2 Experimental Liver Neoplasms Ccnd1 , Cdkn1a , Myc , Notch1 Experimental Mammary Neoplasms Ccnd1 , Eno1 , Furin , Gata3 , Myc , Notch4 Experimental Melanoma Kdm1a Experimental Neoplasms Ccnd1 Experimental Seizures Ccnd1 , Hdac2 , Neurl1 Eye Abnormalities Jag1 Facies Jag1 facioscapulohumeral muscular dystrophy Cdkn1a Familial Acne Inversa 1 Ncstn Familial Acne Inversa 2 Psenen Familial Acne Inversa 3 Psen1 familial adenomatous polyposis Hdac2 familial adenomatous polyposis 1 Il4 , Skp1 Familial Atrial Fibrillation 14 Cbl familial hemiplegic migraine Ncstn Familial Hidradenitis Suppurativa Ncstn , Psen1 , Psenen familial hypertrophic cardiomyopathy Mib1 familial hypocalciuric hypercalcemia Dtx3l familial melanoma Dtx3 Familial Thoracic Aortic Aneurysm 9 Mfap5 fetal alcohol spectrum disorder Hdac2 Fetal Growth Retardation Dlk1 , Hdac1 , Hdac2 Fibrosis Adam10 , Il4 , Notch2 Flatfoot Jag1 focal epilepsy Neurl2 , Rbpjl Focal Nodular Hyperplasia Dll4 , Notch1 focal segmental glomerulosclerosis 5 Jag2 Follicular Cyst Notch2 follicular lymphoma Crebbp frontotemporal dementia Psen1 Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis Adam10 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 Maml1 Fuchs' endothelial dystrophy Cdkn1a fundus dystrophy Jag1 GABRIELE-DE VRIES SYNDROME Yy1 galactosialidosis Neurl2 Gastro-Enteropancreatic Neuroendocrine Tumor Gata3 , Notch2 gastrointestinal stromal tumor Aph1a , Ncstn , Psen2 Gaucher's disease Il4 generalized epilepsy Dnm1 genetic disease Adam10 , Adam17 , Cbl , Cntn1 , Crebbp , Ctbp1 , Dlk1 , Dll1 , Dll3 , Dll4 , Dnm1 , Dtx2 , Dvl1 , Dvl3 , Ep300 , Fbxw7 , Gata3 , Hdac1 , Hdac2 , Hes7 , Itch , Jag1 , Kdm1a , Lfng , Mib1 , Ncstn , Notch1 , Notch2 , Notch3 , Pofut1 , Psen1 , Psen2 , Rbbp8 , Rbpj , Spen , Yy1 Genomic Instability Ccnd1 , Fbxw7 glaucoma Crebbp , Hdac1 glioblastoma Hes1 , Hey1 , Jag1 , Jag2 , Myc , Ncor1 , Notch1 , Notch2 , Notch3 Gliosis Psen1 glomerulonephritis Ep300 glutathione synthetase deficiency Itch glutatione synthetase deficiency with 5-oxoprolinuria Itch Goldberg-Shprintzen syndrome Dvl1 , Hes5 Granuloma Il4 Graves' disease Il4 Growth Disorders Cbl growth hormone secreting pituitary adenoma Cdkn1a Habitual Abortions Cdkn1a Hajdu-Cheney syndrome Notch2 Hallucinations Psen1 Hand Osteoarthritis Il4 head and neck squamous cell carcinoma Ccnd1 , Crebbp , Lnx1 Hearing Loss Gata3 Hearing Loss, Noise-Induced Cdkn1a , Cntn1 heart disease Ep300 , Hdac1 heart valve disease Notch1 hemangioblastoma Dll4 , Hey1 , Notch4 hemangiopericytoma Dll4 , Hes1 , Hey1 , Hey2 , Notch1 , Notch4 Hematologic Neoplasms Cbl Hemorrhagic Shock Il4 , Myc hepatitis B Il4 , Kat2a hepatitis C Il4 , Myc hepatoblastoma Ep300 , Jag1 hepatocellular carcinoma Cbl , Ccnd1 , Cdkn1a , Crebbp , Dlk1 , Eno1 , Ep300 , Hdac2 , Jag1 , Kat2b , Kdm1a , Myc , Notch3 , Skp2 , Snw1 hereditary breast ovarian cancer syndrome Ep300 , Notch2 Hereditary Hemorrhagic Telangiectasia, Type 1 Psen1 Hereditary Neoplastic Syndromes Cbl , Il4 , Skp1 hereditary spastic paraplegia 75 Psenen herpes zoster Il4 high grade glioma Ccnd1 , Cdkn1a , Dlk1 , Dll4 , Fbxw7 , Il4 Hirschsprung Disease 1 Crebbp , Notch2 Hirschsprung's disease Crebbp , Notch2 , Notch4 Hittner Hirsch Kreh Syndrome Ep300 HIV Seropositivity Aph1b Hodgkin's lymphoma Gata3 , Myc holoprosencephaly Dll1 human immunodeficiency virus infectious disease Cdkn1a , Yy1 Human Influenza Il4 Huntington's disease Crebbp , Ep300 , Hdac1 , Ncor1 Huntington's Disease-Like Syndrome Psen2 Hyperalgesia Ep300 hyperglycemia Cbl hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase Itch Hyperoxia Cdkn1a hyperparathyroidism Ccnd1 , Myc Hyperphosphatemic Familial Tumoral Calcinosis 1 Mfap5 Hyperplasia Ccnd1 , Cdkn1a , Kdm1a hypertension Eno1 , Ep300 hypertrophic cardiomyopathy Aph1b , Hey2 , Myc , Yy1 Hypertrophic Cicatrix Hes1 , Notch1 , Notch4 Hypertrophy Cdkn1a hypoparathyroidism Gata3 hypoparathyroidism-deafness-renal disease syndrome Gata3 hypophosphatemia Hes7 hypoplastic left heart syndrome Notch1 hypothyroidism Il4 , Ncor1 HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME Ctbp1 Hypovolemia Cdkn1a Idiopathic Generalized Epilepsy Crebbp , Dvl1 idiopathic pulmonary fibrosis Ep300 IgA glomerulonephritis Adam10 , Notch2 Immediate Hypersensitivity Il4 immunodeficiency 11A Lfng Immunodeficiency 126 Ptcra immunodeficiency 132A Jag2 immunodeficiency 16 Dvl1 , Hes5 immunodeficiency 17 Cbl immunodeficiency 18 Cbl immunodeficiency 19 Cbl immunodeficiency 38 Dvl1 , Hes5 immunodeficiency 42 Aph1a immunodeficiency 90 Ccnd1 immunodeficiency-centromeric instability-facial anomalies syndrome 1 Pofut1 impotence Ccnd1 infantile myofibromatosis Notch3 Infantile Myofibromatosis 1 Notch3 Infantile Myofibromatosis 2 Notch3 infantile Refsum disease Ptcra Infarction Notch3 Inflammation Gata3 inflammatory bowel disease 28 Cbl intellectual disability Ccnd1 , Crebbp , Ctbp1 , Dtx4 , Ep300 , Hes7 , Kdm1a , Maml2 , Mark2 , Mib1 , Numb , Psen1 , Rab11a , Rbbp8 , Yy1 interstitial cystitis Ccnd1 INTERSTITIAL LUNG AND LIVER DISEASE Dtx3 Intestinal Neoplasms Cdkn1a Intestinal Polyps Ccnd1 Intracranial Hemorrhages Psen1 invasive ductal carcinoma Notch3 , Spen invasive lobular carcinoma Ccnd1 inverted papilloma Cdkn1a irritant dermatitis Il4 ischemia Dll4 isolated microphthalmia 5 Cbl Joint Instability Crebbp Joubert syndrome 1 Notch1 Joubert syndrome 25 Dvl1 , Hes5 juvenile myelomonocytic leukemia Cbl juvenile rheumatoid arthritis Maml2 Kagami-Ogata syndrome Dlk1 Kawasaki disease Il4 keratoacanthoma Notch1 , Notch2 Keratoconus 1 Skp1 kidney disease Cdkn1a kidney failure Adam10 , Notch2 Kidney Neoplasms Ccnd1 Kidney Reperfusion Injury Adam17 , Ep300 , Myc Kleefstra syndrome 1 Notch1 Klippel-Feil syndrome 3 Mfap5 Knee Osteoarthritis Il4 Kohlschutter-Tonz syndrome Crebbp laryngeal squamous cell carcinoma Cdkn1a lateral meningocele syndrome Notch3 learning disability Psen1 Left Ventricular Hypertrophy Adam17 , Myc Left Ventricular Noncompaction 7 Mib1 Leigh disease Notch1 leiomyoma Myc leishmaniasis Il4 leukemia Ccnd1 leukocyte adhesion deficiency 3 Dtx4 , Mark2 LEUKODYSTROPHY AND ACQUIRED MICROCEPHALY WITH OR WITHOUT DYSTONIA Dll3 Li-Fraumeni syndrome Hes7 limb ischemia Dll4 Lip Neoplasms Cdkn1a lipoid nephrosis Cdkn1a liver benign neoplasm Cdkn1a liver cancer Ccnd1 , Jag1 liver cirrhosis Hdac2 , Myc Liver Injury Myc Liver Metastasis Fbxw7 Liver Neoplasms Ccnd1 , Cdkn1a , Myc , Ncor1 localized scleroderma Cdkn1a long QT syndrome Ccnd1 , Itch long QT syndrome 10 Cbl lung adenocarcinoma Ccnd1 , Crebbp , Dll4 , Eno1 , Ep300 , Myc , Notch1 lung cancer Dvl3 , Myc lung large cell carcinoma Dll4 , Notch1 Lung Neoplasms Ccnd1 , Cdkn1a , Hes1 , Hey1 , Jag1 , Myc , Notch2 , Notch3 lung non-small cell carcinoma Cbl , Ccnd1 , Cdkn1a , Eno1 , Hes1 , Kat2a , Kdm1a , Myc , Notch3 Lung Reperfusion Injury Crebbp , Il4 , Myc lung small cell carcinoma Ccnd1 , Crebbp , Dll4 , Ep300 , Myc , Notch1 , Skp2 lung squamous cell carcinoma Ccnd1 , Crebbp , Fbxw7 lymphangioleiomyomatosis Hes1 , Jag2 Lymphatic Metastasis Cbl , Cdkn1a , Skp2 lymphoma Notch1 lymphopenia Cbl lymphoproliferative syndrome 2 Mfap5 macular degeneration Cdkn1a male infertility Cbl , Eno1 malignant astrocytoma Ccnd1 , Dll3 , Hey1 , Hey2 , Notch1 , Notch2 malignant mesothelioma Cdkn1a , Il4 malignant ovarian germ cell neoplasm Cbl mantle cell lymphoma Ccnd1 maple syrup urine disease Dll3 , Numbl Marfan syndrome Notch1 Marfanoid Hypermobility Syndrome Notch1 Marfanoid Mental Retardation Syndrome, Autosomal Crebbp maturity-onset diabetes of the young type 1 Dll3 , Rbpj , Rbpjl maxillary sinus squamous cell carcinoma Cdkn1a medulloblastoma Ccnd1 , Myc , Skp2 melanoma Cdkn1a , Ep300 , Hdac2 , Kdm1a membranoproliferative glomerulonephritis Ep300 Memory Disorders Hdac2 , Psen1 meningioma Hes1 Meningococcal Infections Il4 Menke-Hennekam Syndrome Crebbp Menke-Hennekam Syndrome 1 Crebbp Menke-Hennekam Syndrome 2 Ep300 Merkel cell carcinoma Myc metabolic dysfunction-associated steatotic liver disease Il4 Metaplasia Gata3 MHC class II deficiency Aph1a microcephaly Cbl , Ctbp1 , Ep300 , Hes7 , Rab11a , Rbbp8 Microcephaly with Mental Retardation and Digital Anomalies Rbbp8 microphthalmia Notch1 Microsatellite Instability Hdac2 middle cerebral artery infarction Hdac2 , Il4 migraine Notch3 migraine with aura Notch3 migraine without aura Notch3 mitochondrial complex III deficiency nuclear type 1 Ncor1 mitochondrial complex III deficiency nuclear type 2 Ncor1 mitral valve insufficiency Hes7 Monoclonal B-Cell Lymphocytosis Notch2 mosaic variegated aneuploidy syndrome 1 Dll4 Mouth Neoplasms Eno1 Multicystic Dysplastic Kidney Ep300 Multiple Abnormalities Ep300 multiple myeloma Cbl , Ccnd1 , Crebbp , Ncor2 , Notch2 , Rbbp8 , Yy1 multiple sclerosis Hdac1 , Il4 , Jag1 , Notch4 , Rbpj Multisystem Autoimmune Disease with Facial Dysmorphism Itch Muscle Hypotonia Crebbp myelodysplastic syndrome Crebbp , Dlk1 , Hdac1 , Myc myelofibrosis Ncor2 myeloid leukemia Hdac2 myeloid neoplasm Cbl myeloproliferative neoplasm Notch1 myocardial infarction Dvl1 Myocardial Ischemia Ccnd1 , Dll4 , Notch1 Myocardial Reperfusion Injury Cbl , Crebbp myoclonic dystonia 26 Mfng myoclonic-atonic epilepsy Dnm1 myoepithelioma Spen Nasopharyngeal Neoplasms Ccnd1 nasopharynx carcinoma Spen nemaline myopathy 6 Aph1b , Rab11a Nematode Infections Il4 Neointima Yy1 Neonatal Hyperbilirubinemia Ncor1 Neonatal Inflammatory Skin and Bowel Disease 1 Adam17 Neoplasm Invasiveness Ctbp2 , Eno1 , Kdm1a , Notch2 Neoplasm Metastasis Ccnd1 , Cdkn1a , Myc Neoplastic Cell Transformation Ccnd1 , Ctbp2 , Myc , Notch1 nephritis Il4 nephroblastoma Myc nephronophthisis-like nephropathy 1 Ep300 nephrosis Gata3 nephrotic syndrome Il4 Nerve Degeneration Psen1 nervous system disease Hes5 , Notch1 Nervous System Lead Poisoning Ep300 Nervous System Malformations Crebbp , Psen1 neural tube defect Kat2a neuroblastoma Gata3 , Myc neurodegeneration with brain iron accumulation 2A Mfng neurodegenerative disease Psen1 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES Crebbp NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, NYSTAGMUS, AND SEIZURES Adam17 NEURODEVELOPMENTAL DISORDER WITH NONSPECIFIC BRAIN ABNORMALITIES AND WITH OR WITHOUT SEIZURES Dll1 Neurodevelopmental Disorders Cbl , Cntn6 , Crebbp , Dnm1 , Dvl1 , Eno1 , Ep300 , Fbxw7 , Gata3 , Hes5 , Il4 , Skp1 , Skp2 , Yy1 neuroectodermal tumor Myc neuronal ceroid lipofuscinosis Rab11a Niemann-Pick disease type C1 Mib1 , Rbbp8 non-Hodgkin lymphoma Ccnd1 Noonan Like Syndrome Cbl Noonan syndrome Cbl Noonan syndrome 1 Cbl Noonan Syndrome-Like Disorder with or without Juvenile Myelomonocytic Leukemia Cbl obesity Ep300 , Myc Obesity and Hypopigmentation Itch ocular hypertension Cdkn1a oligodendroglioma Dtx1 , Hes1 , Hey1 Optic Nerve Injuries Ep300 , Snw1 Oral Lichen Planus Cdkn1a oral mucosa leukoplakia Cdkn1a oral squamous cell carcinoma Cdkn1a , Hes1 , Notch1 , Skp2 osteoarthritis Adam12 , Eno1 , Jag1 , Ncor2 osteochondrodysplasia Dll3 , Hes7 osteoporosis Eno1 , Myc osteosarcoma Cbl , Myc Otitis Media with Effusion Il4 ovarian carcinoma Ccnd1 ovarian cyst Mfap2 ovarian germ cell cancer Cbl Ovarian Neoplasms Cdkn1a , Hdac1 , Hdac2 , Myc , Skp2 Oxygen-Induced Retinopathy Dll4 Painful Neuropathy Ep300 pancreatic adenocarcinoma Ccnd1 pancreatic cancer Ccnd1 , Il4 , Myc , Notch1 , Snw1 pancreatic carcinoma Cdkn1a , Myc , Rbbp8 pancreatic ductal adenocarcinoma Ccnd1 pancreatic ductal carcinoma Ccnd1 , Cdkn1a , Dtx1 , Dtx4 , Hdac1 , Hes1 , Hey1 , Hey2 , Il4 , Jag1 , Jag2 , Notch1 , Notch3 , Notch4 Pancreatic Intraepithelial Neoplasia Ccnd1 , Hdac1 pancreatic solid pseudopapillary carcinoma Ccnd1 papillary thyroid carcinoma Ccnd1 , Myc papilloma Ccnd1 , Cdkn1a paraplegia Dtx3 parathyroid carcinoma Aph1a , Ncstn , Psen2 Paroxysmal Atrial Fibrillation Mib1 Pectus Carinatum Crebbp pelvic inflammatory disease Il4 penile benign neoplasm Ccnd1 Perennial Allergic Rhinitis Il4 perinatal necrotizing enterocolitis Eno1 Peripheral Nerve Injuries Cbl Peritoneal Diseases Notch1 peroxisome biogenesis disorder 12A Ncstn peroxisome biogenesis disorder 2B Mfap5 Peroxisome Biogenesis Disorder, Complementation Group 7 Dvl1 , Hes5 pervasive developmental disorder Fbxw7 Peyronie's disease Hdac2 PHGDH deficiency Notch2 Phyllodes Tumor Cdkn1a Pick's disease Psen1 Pituitary Neoplasms Cdkn1a Plaque, Atherosclerotic Dll4 pleomorphic xanthoastrocytoma Dtx2 pleural disease Il4 pleuropulmonary blastoma Yy1 Pneumococcal Meningitis Adam17 pneumoconiosis Il4 pneumonia Il4 polycystic kidney disease Dll4 , Myc polycystic kidney disease 1 Myc polycystic ovary syndrome Ncor1 , Ptcra polymyositis Il4 pre-eclampsia Crebbp , Notch2 pre-malignant neoplasm Ccnd1 , Cdkn1a Premature Aging Cdkn1a Premature Birth Il4 Prenatal Exposure Delayed Effects Adam10 , Notch2 Presenile and Senile Dementia Psen2 primary biliary cholangitis Cdkn1a , Il4 primary coenzyme Q10 deficiency 7 Dnm1 , Notch1 primary cutaneous T-cell non-Hodgkin lymphoma Il4 Primary Lymphedema with Myelodysplasia Dtx3l primary microcephaly Rab11a primary open angle glaucoma Cdkn1a primary ovarian insufficiency Myc , Notch2 primary pulmonary hypertension Hdac1 Primitive Neuroectodermal Tumors Hes1 , Hey1 , Notch2 prion disease Notch1 Progressive Psychomotor Deterioration Notch3 prolactinoma Myc prostate adenocarcinoma Myc prostate cancer Ccnd1 , Cdkn1a , Dll1 , Ep300 , Maml1 , Myc , Notch3 , Skp2 prostate carcinoma Hdac2 , Skp2 prostate carcinoma in situ Ccnd1 , Hdac1 , Myc prostatic hypertrophy Myc Prostatic Neoplasms Ccnd1 , Cdkn1a , Crebbp , Ctbp2 , Hdac1 , Myc , Ncor1 , Ncor2 , Spen proteasome-associated autoinflammatory syndrome 1 Cdkn1a , Notch4 psoriasis Cdkn1a , Il4 Pulmonary Arterial Hypertension Notch1 , Notch3 Pulmonary Atresia Ctbp2 pulmonary emphysema Hdac2 pulmonary fibrosis Il4 , Jag1 , Notch1 , Psen2 Pulmonary Hemorrhage Psen2 pulmonary hypertension Cdkn1a , Dll4 , Hdac1 , Hdac2 , Hey1 , Il4 , Myc , Notch1 pulmonary tuberculosis Il4 RADIO-TARTAGLIA SYNDROME Spen Rafiq syndrome Notch1 RASopathy Cbl renal cell carcinoma Ccnd1 , Dll4 , Myc , Skp2 renal fibrosis Adam17 , Myc renal hypertension Cdkn1a Reperfusion Injury Ccnd1 , Cdkn1a , Ep300 respiratory allergy Il4 Respiratory Sounds Il4 Respiratory Tract Infections Il4 reticulate acropigmentation of Kitamura Adam10 Retina Reperfusion Injury Hdac2 retinal degeneration Cdkn1a RETINAL DYSTROPHY WITH INNER RETINAL DYSFUNCTION AND GANGLION CELL ABNORMALITIES Cdkn1a retinopathy of prematurity Dll4 , Notch1 rhabdoid cancer Myc rhabdomyosarcoma Cbl rheumatoid arthritis Eno1 , Gata3 , Hdac1 , Kat2b , Notch4 , Rbpj rhinitis Il4 Rhinosinusitis Il4 Right Ventricular Hypertrophy Hdac1 Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal Lfng Robinow syndrome Dvl1 , Dvl3 Rubinstein-Taybi syndrome Crebbp , Ep300 Salivary Gland Neoplasms Ccnd1 , Cdkn1a , Jag1 , Mark2 sarcoidosis Cdkn1a sarcoma Maml3 Sarcopenia Cdkn1a schizophrenia Cbl , Cntn6 , Hes1 , Kdm1a , Ncstn , Notch4 , Rbpj sciatic neuropathy Snw1 scoliosis Crebbp , Dll3 , Hes7 , Jag1 , Notch1 Seasonal Allergic Rhinitis Il4 sebaceous gland neoplasm Cdkn1a Seckel syndrome Rbbp8 Seckel syndrome 2 Rbbp8 sensorineural hearing loss Gata3 Sepsis Cdkn1a , Ep300 , Gata3 , Il4 serous cystadenocarcinoma Cdkn1a severe congenital neutropenia 3 Aph1a severe congenital neutropenia 5 Aph1a Sezary's disease Crebbp SHONE COMPLEX Notch1 short-rib thoracic dysplasia 9 with or without polydactyly Crebbp Shprintzen-Goldberg Craniosynostosis Dvl1 , Hes5 Silver-Russell Syndrome 1 Dlk1 sinonasal undifferentiated carcinoma Maml3 Sjogren's syndrome Il4 skin melanoma Fbxw7 Skin Neoplasms Cdkn1a , Notch1 , Notch2 , Notch3 , Notch4 Sneddon syndrome Notch3 Sotos syndrome Maml1 Spinal Cord Injuries Il4 Spine Osteoarthritis Skp2 Spinocerebellar Ataxias Ep300 , Kat2a Splenomegaly Notch1 , Psen1 split hand-foot malformation 5 Cir1 spondylocostal dysostosis Dll3 , Hes7 spondylocostal dysostosis 1 Dll3 spondylocostal dysostosis 2 Hes7 , Lfng spondylocostal dysostosis 3 Lfng spondylocostal dysostosis 4 Hes7 Spondylocostal Dysostosis, Autosomal Recessive Dll3 , Hes7 , Lfng Sporadic Papillary Renal Cell Carcinoma Myc Sprengel Deformity Hes7 squamous cell carcinoma Ccnd1 , Cdkn1a , Crebbp , Eno1 , Ep300 , Hdac1 , Hdac2 , Myc , Notch1 , Notch2 , Notch3 , Notch4 Staphylococcal Infections Il4 status epilepticus Adam10 , Ccnd1 steatotic liver disease Myc Stevens-Johnson syndrome Cul1 , Ep300 stomach cancer Hdac2 stomach carcinoma Cdkn1a Stomach Neoplasms Ccnd1 , Cdkn1a , Eno1 , Myc , Notch2 Stroke Hdac1 , Hdac2 , Il4 , Notch3 Surgical Wound Dll4 , Notch1 syndactyly Dll3 , Jag2 syndromic microphthalmia 5 Adam17 , Notch1 , Notch4 systemic lupus erythematosus Cdkn1a , Ep300 , Il4 systemic scleroderma Il4 , Notch4 T-cell acute lymphoblastic leukemia Fbxw7 , Notch1 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations Neurl2 , Rbpjl T-cell non-Hodgkin lymphoma Cdkn1a , Ep300 , Kdm1a tauopathy Hdac1 temporal arteritis Dll1 , Il4 , Jag1 temporal lobe epilepsy Hdac2 Temporomandibular Joint Osteoarthritis Dll4 Temtamy syndrome Mfap5 teratoma Crebbp tetralogy of Fallot Hey2 , Jag1 , Notch1 thoracic aortic aneurysm Adam10 , Adam17 , Mfap5 , Notch1 Thumb Deformity Crebbp , Ep300 thyroid cancer Myc Thyroid Neoplasms Ccnd1 , Cdkn1a Tongue Neoplasms Cdkn1a tongue squamous cell carcinoma Ccnd1 , Cdkn1a toxocariasis Il4 transient cerebral ischemia Cbl , Dll4 , Ep300 , Kdm1a , Notch1 transitional cell carcinoma Ccnd1 , Cdkn1a , Crebbp , Ep300 , Ncor1 , Skp2 Transplant Rejection Myc traumatic brain injury Adam10 , Ncstn , Psen1 trichorhinophalangeal syndrome type I Myc trypanosomiasis Il4 tuberculosis Adam17 tuberous sclerosis 1 Notch1 type 1 diabetes mellitus Cbl , Hdac1 , Hdac2 , Il4 , Notch4 , Yy1 type 2 diabetes mellitus Adam17 , Dll3 , Ep300 , Hdac1 , Hdac2 , Notch2 , Rbpj , Rbpjl ulcerative colitis Cdkn1a ureteral obstruction Adam10 , Adam12 , Adam17 , Hes1 , Hey1 , Hey2 urinary bladder cancer Ccnd1 , Cdkn1a , Crebbp , Ep300 , Myc , Ncor1 , Ncstn Urologic Neoplasms Ccnd1 Uterine Cervical Neoplasms Ccnd1 , Cdkn1a , Crebbp , Hdac1 , Hdac2 , Hes1 , Myc , Notch1 , Notch2 , Skp2 , Yy1 VACTERL association Notch2 varicose veins Dll4 , Hey2 vascular dementia Notch3 , Psen2 Vascular Malformations Dll4 , Notch1 Vascular Neoplasms Dll4 vasculitis Cbl very long chain acyl-CoA dehydrogenase deficiency Hes7 vitiligo Il4 von Hippel-Lindau disease Ccnd1 Weaver syndrome Cul1 Weight Gain Rfng Weight Loss Il4 West syndrome Dnm1 Wittwer Syndrome Ctbp1 Wolf-Hirschhorn syndrome Ctbp1 Xerostomia Il4 Zellweger syndrome Ptcra