Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	1029
Gene name	Cyclin dependent kinase inhibitor 2A
Gene symbol	CDKN2A
Synonyms (NCBI Gene)	ARFCAI2CDK4ICDKN2CMM2INK4INK4AMLMMTS-1MTS1P14P14ARFP16P16-INK4AP16INK4P16INK4AP19P19ARFTP16
Chromosome	9
Chromosome location	9p21.3
Summary	This gene generates several transcript variants which differ in their first exons. At least three alternatively spliced variants encoding distinct proteins have been reported, two of which encode structurally related isoforms known to function as inhibito

101

Show/Hide all (101)

SNP ID	Visualize variation	Clinical significance	Consequence
rs1800586	C>A,G,T	Conflicting-interpretations-of-pathogenicity, likely-benign, pathogenic, uncertain-significance	5 prime UTR variant, upstream transcript variant, intron variant, genic upstream transcript variant, non coding transcript variant
rs4987127	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign, benign	Missense variant, 3 prime UTR variant, coding sequence variant, non coding transcript variant, synonymous variant
rs6413463	A>G,T	Conflicting-interpretations-of-pathogenicity, likely-benign, benign	Missense variant, 3 prime UTR variant, coding sequence variant, non coding transcript variant, synonymous variant
rs6413464	C>A,G	Likely-pathogenic, benign-likely-benign, uncertain-significance, benign	Missense variant, 3 prime UTR variant, coding sequence variant, non coding transcript variant
rs11552822	C>A,T	Likely-pathogenic, conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, 3 prime UTR variant, non coding transcript variant, coding sequence variant
rs11552823	G>A,C	Pathogenic, uncertain-significance	3 prime UTR variant, missense variant, non coding transcript variant, synonymous variant, coding sequence variant
rs34170727	G>A,C,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, 3 prime UTR variant, non coding transcript variant, coding sequence variant
rs34968276	G>A,C,T	Likely-pathogenic, likely-benign, uncertain-significance	Non coding transcript variant, missense variant, coding sequence variant, stop gained, 3 prime UTR variant, synonymous variant
rs36204594	G>A,T	Likely-pathogenic, uncertain-significance	Non coding transcript variant, missense variant, coding sequence variant, 3 prime UTR variant, synonymous variant
rs45456595	C>G	Likely-benign, conflicting-interpretations-of-pathogenicity, benign, uncertain-significance	Missense variant, genic upstream transcript variant, coding sequence variant, intron variant
rs45476696	C>A,T	Likely-pathogenic, pathogenic, uncertain-significance	Non coding transcript variant, missense variant, coding sequence variant, stop gained, 3 prime UTR variant
rs104894094	C>A,G,T	Risk-factor, pathogenic, uncertain-significance	Coding sequence variant, non coding transcript variant, 3 prime UTR variant, missense variant
rs104894095	C>G,T	Likely-pathogenic, risk-factor, pathogenic	Coding sequence variant, non coding transcript variant, 3 prime UTR variant, missense variant
rs104894097	C>A,G,T	Likely-pathogenic, pathogenic, uncertain-significance, risk-factor, pathogenic-likely-pathogenic	Non coding transcript variant, genic upstream transcript variant, intron variant, coding sequence variant, missense variant
rs104894098	A>T	Risk-factor, pathogenic	Coding sequence variant, non coding transcript variant, 3 prime UTR variant, missense variant
rs104894099	A>C,T	Risk-factor, likely-pathogenic, uncertain-significance, pathogenic	Coding sequence variant, non coding transcript variant, 3 prime UTR variant, missense variant
rs104894104	G>A,T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, 3 prime UTR variant, missense variant
rs104894109	C>A,T	Likely-pathogenic, risk-factor, pathogenic, uncertain-significance	3 prime UTR variant, non coding transcript variant, synonymous variant, coding sequence variant, missense variant
rs113798404	C>G,T	Risk-factor	Coding sequence variant, non coding transcript variant, 3 prime UTR variant, missense variant
rs121913381	C>A,T	Likely-pathogenic, uncertain-significance	Coding sequence variant, non coding transcript variant, 3 prime UTR variant, missense variant
rs121913382	C>A,T	Likely-pathogenic	3 prime UTR variant, non coding transcript variant, stop gained, coding sequence variant, missense variant
rs121913383	C>A	Likely-pathogenic	3 prime UTR variant, non coding transcript variant, stop gained, coding sequence variant, missense variant
rs121913384	C>A,G,T	Likely-pathogenic, uncertain-significance	3 prime UTR variant, non coding transcript variant, stop gained, coding sequence variant, missense variant
rs121913385	G>A,C	Likely-pathogenic, uncertain-significance	Coding sequence variant, non coding transcript variant, 3 prime UTR variant, missense variant
rs121913386	G>A,T	Likely-pathogenic, uncertain-significance	3 prime UTR variant, non coding transcript variant, synonymous variant, coding sequence variant, missense variant
rs121913387	G>A,C	Pathogenic, likely-pathogenic, uncertain-significance	3 prime UTR variant, non coding transcript variant, stop gained, coding sequence variant, missense variant
rs121913388	G>A,C	Risk-factor, likely-pathogenic, uncertain-significance	3 prime UTR variant, non coding transcript variant, stop gained, coding sequence variant, missense variant
rs121913389	C>T	Likely-pathogenic	3 prime UTR variant, non coding transcript variant, stop gained, coding sequence variant, missense variant
rs137854597	C>T	Risk-factor	Coding sequence variant, non coding transcript variant, 3 prime UTR variant, missense variant
rs137854599	C>G,T	Conflicting-interpretations-of-pathogenicity, risk-factor, pathogenic, uncertain-significance	3 prime UTR variant, non coding transcript variant, synonymous variant, coding sequence variant, missense variant
rs141798398	G>A,T	Uncertain-significance, pathogenic	Intron variant, genic upstream transcript variant, stop gained, missense variant, non coding transcript variant, coding sequence variant
rs146179135	C>A,G,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, non coding transcript variant, 3 prime UTR variant, coding sequence variant
rs199888003	C>T	Conflicting-interpretations-of-pathogenicity, benign	Coding sequence variant, non coding transcript variant, 3 prime UTR variant, synonymous variant, missense variant
rs199907548	A>C,G	Conflicting-interpretations-of-pathogenicity, likely-pathogenic, uncertain-significance	Intron variant, non coding transcript variant, genic upstream transcript variant, missense variant, coding sequence variant
rs200863613	C>A,T	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, 3 prime UTR variant, non coding transcript variant, coding sequence variant
rs370823171	C>G,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Synonymous variant, missense variant, coding sequence variant, 3 prime UTR variant, non coding transcript variant
rs372266620	G>A,C,T	Benign-likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity, benign	Synonymous variant, missense variant, coding sequence variant, 3 prime UTR variant, non coding transcript variant
rs372670098	T>C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Synonymous variant, missense variant, coding sequence variant, 3 prime UTR variant, non coding transcript variant
rs387906410	GC>AG	Risk-factor, pathogenic	Missense variant, 3 prime UTR variant, non coding transcript variant, coding sequence variant
rs398123152	->C	Pathogenic	Coding sequence variant, intron variant, genic upstream transcript variant, frameshift variant, non coding transcript variant
rs529380972	C>G	Likely-benign, benign, conflicting-interpretations-of-pathogenicity	Intron variant
rs559848002	T>C,G	Conflicting-interpretations-of-pathogenicity, likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant, 3 prime UTR variant, synonymous variant
rs575031539	C>G,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, synonymous variant, non coding transcript variant, 3 prime UTR variant, coding sequence variant
rs587776716	CGGGTCGGGTGAGAGTGGC>-	Risk-factor, pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant, 3 prime UTR variant
rs587778189	T>A,C,G	Uncertain-significance, not-provided, conflicting-interpretations-of-pathogenicity, likely-pathogenic	Missense variant, non coding transcript variant, genic upstream transcript variant, coding sequence variant, intron variant
rs587780668	GGCTCCATGCTGCTCCCCGCCGCC>-,GGCTCCATGCTGCTCCCCGCCGCCGGCTCCATGCTGCTCCCCGCCGCC	Uncertain-significance, pathogenic-likely-pathogenic, likely-pathogenic, risk-factor	5 prime UTR variant, upstream transcript variant, initiator codon variant, non coding transcript variant, inframe deletion, genic upstream transcript variant, inframe insertion, intron variant
rs587782206	CCAG>-	Pathogenic	Non coding transcript variant, genic upstream transcript variant, coding sequence variant, frameshift variant, intron variant
rs587782792	T>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-pathogenic	Missense variant, non coding transcript variant, synonymous variant, 3 prime UTR variant, coding sequence variant
rs730881672	->GCC	Pathogenic	Non coding transcript variant, genic upstream transcript variant, inframe insertion, coding sequence variant, intron variant
rs730881673	->T,TT	Pathogenic	Non coding transcript variant, genic upstream transcript variant, coding sequence variant, intron variant, stop gained
rs730881674	GTGAGAGTGGCGGGGTCGG>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant, 3 prime UTR variant
rs730881675	TCGTGCACGGGTCG>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant, 3 prime UTR variant
rs730881677	C>A,G,T	Not-provided, pathogenic	Splice acceptor variant
rs746834149	C>A,G,T	Uncertain-significance, likely-pathogenic	Missense variant, non coding transcript variant, genic upstream transcript variant, coding sequence variant, intron variant
rs749714198	G>A	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant, 3 prime UTR variant
rs754806883	C>A,G,T	Uncertain-significance, likely-pathogenic	Missense variant, 3 prime UTR variant, synonymous variant, coding sequence variant, non coding transcript variant
rs756750256	T>C,G	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Missense variant, 3 prime UTR variant, synonymous variant, coding sequence variant, non coding transcript variant
rs762397298	G>A,C,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	3 prime UTR variant, coding sequence variant, non coding transcript variant, synonymous variant, missense variant
rs768966657	->ACG	Pathogenic, likely-pathogenic	3 prime UTR variant, coding sequence variant, inframe insertion, non coding transcript variant
rs771138120	G>A,C,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	3 prime UTR variant, coding sequence variant, non coding transcript variant, synonymous variant, missense variant
rs786204195	G>A,T	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant, genic upstream transcript variant, intron variant
rs864622263	A>C,G,T	Uncertain-significance, pathogenic	Coding sequence variant, missense variant, non coding transcript variant, genic upstream transcript variant, intron variant
rs864622636	G>A,T	Uncertain-significance, pathogenic	Coding sequence variant, missense variant, non coding transcript variant, genic upstream transcript variant, stop gained, intron variant
rs876658220	T>-	Likely-pathogenic	3 prime UTR variant, coding sequence variant, non coding transcript variant, frameshift variant
rs876658511	TGGGCTCCGCGCCGTGGAGCAGCAGCAGCTCCGCCACT>-	Pathogenic	3 prime UTR variant, coding sequence variant, non coding transcript variant, frameshift variant
rs876658534	GC>AA	Likely-pathogenic	3 prime UTR variant, coding sequence variant, missense variant, non coding transcript variant
rs876658556	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, genic upstream transcript variant, stop gained, intron variant
rs876660436	G>A,C,T	Likely-pathogenic, pathogenic	3 prime UTR variant, coding sequence variant, missense variant, non coding transcript variant
rs878853644	C>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, genic upstream transcript variant, splice donor variant, frameshift variant, intron variant
rs878853647	C>G,T	Pathogenic	Synonymous variant, 3 prime UTR variant, coding sequence variant, missense variant, non coding transcript variant
rs878853650	A>G	Likely-pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant, genic upstream transcript variant, intron variant
rs886041162	GC>-	Pathogenic	3 prime UTR variant, coding sequence variant, non coding transcript variant, frameshift variant
rs1057519852	C>T	Likely-pathogenic, pathogenic	Coding sequence variant, stop gained, synonymous variant, non coding transcript variant, 3 prime UTR variant
rs1057519881	T>C	Likely-pathogenic	Missense variant, coding sequence variant, synonymous variant, non coding transcript variant, 3 prime UTR variant
rs1057519882	C>A	Likely-pathogenic	Genic upstream transcript variant, intron variant, missense variant, coding sequence variant, non coding transcript variant
rs1057519883	C>G,T	Likely-pathogenic	Missense variant, coding sequence variant, synonymous variant, non coding transcript variant, 3 prime UTR variant
rs1060501260	G>A,C	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant, synonymous variant, non coding transcript variant, 3 prime UTR variant
rs1060501263	C>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, 3 prime UTR variant
rs1060501265	A>G	Likely-pathogenic	Genic upstream transcript variant, intron variant, missense variant, coding sequence variant, splice donor variant
rs1060501266	T>C	Likely-pathogenic, pathogenic	Non coding transcript variant, genic downstream transcript variant, intron variant, 3 prime UTR variant
rs1060504181	C>G,T	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, synonymous variant, non coding transcript variant, 3 prime UTR variant
rs1064794292	C>T	Likely-pathogenic	Genic upstream transcript variant, intron variant, missense variant, coding sequence variant, non coding transcript variant
rs1131691186	C>A,G,T	Likely-pathogenic, uncertain-significance, conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, intron variant, missense variant, coding sequence variant, non coding transcript variant
rs1131691187	G>-	Pathogenic	Genic upstream transcript variant, intron variant, coding sequence variant, stop gained, non coding transcript variant
rs1131691188	->C	Pathogenic	Genic upstream transcript variant, intron variant, frameshift variant, coding sequence variant, non coding transcript variant
rs1554653915	GCGCAGGTACCGT>CGCATC	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant, 3 prime UTR variant
rs1554653956	CCAGGTCCACGGGCAG>-	Likely-pathogenic	Terminator codon variant, non coding transcript variant, coding sequence variant, frameshift variant, 3 prime UTR variant
rs1554653976	->GGGC	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant, 3 prime UTR variant
rs1554654052	C>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant, 3 prime UTR variant
rs1554654224	T>C,G	Not-provided, likely-pathogenic	Splice acceptor variant
rs1554656253	G>A,C,T	Likely-benign, pathogenic	Non coding transcript variant, synonymous variant, coding sequence variant, stop gained, genic upstream transcript variant, intron variant
rs1554656411	C>A	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained, genic upstream transcript variant, intron variant
rs1554656624	C>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant, genic upstream transcript variant, intron variant
rs1563888944	->TC	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant, 3 prime UTR variant
rs1563889584	G>-	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant, 3 prime UTR variant
rs1563889847	->T	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant, 3 prime UTR variant
rs1563892715	A>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant, genic upstream transcript variant, intron variant
rs1587330284	AGTCCTCACC>-	Likely-pathogenic	3 prime UTR variant, intron variant, coding sequence variant, splice donor variant, non coding transcript variant
rs1587332314	A>G	Likely-pathogenic	3 prime UTR variant, synonymous variant, missense variant, coding sequence variant, non coding transcript variant
rs1587332338	C>-	Pathogenic	3 prime UTR variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1587340291	AGT>C	Pathogenic	Intron variant, genic upstream transcript variant, frameshift variant, coding sequence variant, non coding transcript variant

Show/Hide all (33)

miRTarBase ID	miRNA	Experiments	Reference
MIRT004362	hsa-miR-24-3p	qRT-PCRWestern blot	18365017
MIRT004362	hsa-miR-24-3p	qRT-PCRWestern blot	18365017
MIRT004489	hsa-let-7g-5p	qRT-PCRLuciferase reporter assayWestern blot	20309945
MIRT004709	hsa-miR-125b-5p	Western blot	20347935
MIRT006071	hsa-miR-492	MicroarrayqRT-PCR	21319197
MIRT006368	hsa-miR-10b-5p	Luciferase reporter assayWestern blot	21471404
MIRT006071	hsa-miR-492	MicroarrayqRT-PCR	21319197
MIRT006368	hsa-miR-10b-5p	Luciferase reporter assayWestern blot	21471404
MIRT006071	hsa-miR-492	MicroarrayqRT-PCR	21319197
MIRT006368	hsa-miR-10b-5p	Luciferase reporter assayWestern blot	21471404
MIRT020886	hsa-miR-155-5p	Proteomics	18668040
MIRT022931	hsa-miR-124-3p	Proteomics;Microarray	18668037
MIRT004489	hsa-let-7g-5p	Western blot;qRT-PCR;Proteomics;Other	20309945
MIRT024932	hsa-miR-215-5p	Microarray	19074876
MIRT025556	hsa-miR-34a-5p	Western blot	21128241
MIRT026702	hsa-miR-192-5p	Microarray	19074876
MIRT004362	hsa-miR-24-3p	Reporter assay;Other	18365017
MIRT031803	hsa-miR-16-5p	Proteomics	18668040
MIRT006368	hsa-miR-10b-5p	CLASH	23622248
MIRT044426	hsa-miR-320a	CLASH	23622248
MIRT044426	hsa-miR-320a	CLASH	23622248
MIRT039976	hsa-miR-615-3p	CLASH	23622248
MIRT038476	hsa-miR-296-3p	CLASH	23622248
MIRT038036	hsa-miR-423-5p	CLASH	23622248
MIRT037910	hsa-miR-455-3p	CLASH	23622248
MIRT004709	hsa-miR-125b-5p	ImmunoprecipitationLuciferase reporter assayWestern blot	23585871
MIRT756205	hsa-miR-663a	qRT-PCR	36275892
MIRT1556166	hsa-miR-1203	CLIP-seq
MIRT1556167	hsa-miR-2467-5p	CLIP-seq
MIRT1556168	hsa-miR-365	CLIP-seq
MIRT1556169	hsa-miR-4737	CLIP-seq
MIRT1556170	hsa-miR-485-5p	CLIP-seq
MIRT1556171	hsa-miR-604	CLIP-seq

Show/Hide all (28)

Transcription factor	Regulation	Reference
DDB1	Unknown	19208841
DNMT1	Repression	17934516
DNMT1	Unknown	17490527
DNMT3A	Unknown	17490527
E2F1	Activation	11705881;12695664;12766778;15716352;22621932
EAPP	Repression	15716352
ETS1	Unknown	17370299
ETS2	Unknown	17370299
EZH2	Repression	23289480
FOXM1	Repression	22461910
HDAC1	Unknown	23455154
HDAC3	Repression	18558095
HDAC4	Repression	18558095
HDAC9	Activation	19122829
JUNB	Unknown	17370299
MTA1	Activation	21555589
RB1CC1	Unknown	21637919
SMARCA1	Activation	14604992
SMARCA4	Activation	14604992
SMARCB1	Activation	14604992
SP1	Activation	21830402
SP1	Unknown	10649433;17370299
SP3	Unknown	10649433;17370299
TBX2	Repression	15300007;20624445
TBX3	Repression	15300007;20624445
TBX5	Activation	20802524
ZBTB7A	Repression	17189472
ZNF148	Unknown	20230874

110

Show/Hide all (110)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IDA	10353611
GO:0000209	Process	Protein polyubiquitination	IDA	18305112
GO:0000422	Process	Autophagy of mitochondrion	IMP	25217637
GO:0001953	Process	Negative regulation of cell-matrix adhesion	IMP	10205165
GO:0002039	Function	P53 binding	IPI	9529249
GO:0003677	Function	DNA binding	IEA
GO:0003723	Function	RNA binding	HDA	22681889
GO:0004861	Function	Cyclin-dependent protein serine/threonine kinase inhibitor activity	IBA
GO:0004861	Function	Cyclin-dependent protein serine/threonine kinase inhibitor activity	IDA	7739547, 8259215
GO:0004861	Function	Cyclin-dependent protein serine/threonine kinase inhibitor activity	IEA
GO:0004861	Function	Cyclin-dependent protein serine/threonine kinase inhibitor activity	TAS	10208428
GO:0005515	Function	Protein binding	IPI	9529249, 9751050, 11278317, 12581788, 12740913, 15232106, 15989956, 16173922, 16957780, 17110379, 17289033, 17486078, 17517622, 17658461, 17909018, 17955473, 18305112, 18583933, 19057511, 19149898, 19166854, 20208519, 20713054, 21555589, 21988832, 23455922, 23602568, 24855949, 24981
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	11800646, 16243918
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA	10360174, 17110379, 18305112
GO:0005654	Component	Nucleoplasm	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005730	Component	Nucleolus	IDA	10360174, 16173922, 17110379, 18305112, 22094112, 27323397
GO:0005730	Component	Nucleolus	IEA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	16243918
GO:0005737	Component	Cytoplasm	IEA
GO:0005739	Component	Mitochondrion	IEA
GO:0005739	Component	Mitochondrion	IMP	25217637
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0005829	Component	Cytosol	TAS
GO:0006364	Process	RRNA processing	IEA
GO:0006915	Process	Apoptotic process	IEA
GO:0007265	Process	Ras protein signal transduction	IEP	9054499
GO:0008285	Process	Negative regulation of cell population proliferation	IBA
GO:0008285	Process	Negative regulation of cell population proliferation	IDA	15149599, 17569660
GO:0008285	Process	Negative regulation of cell population proliferation	IEA
GO:0008285	Process	Negative regulation of cell population proliferation	IMP	7603984, 16243918, 16901784
GO:0008544	Process	Epidermis development	IEA
GO:0009303	Process	RRNA transcription	IEA
GO:0010468	Process	Regulation of gene expression	IEA
GO:0010628	Process	Positive regulation of gene expression	IDA	17310983
GO:0016604	Component	Nuclear body	IDA	10360174
GO:0016925	Process	Protein sumoylation	TAS
GO:0019789	Function	SUMO transferase activity	EXP	15355988
GO:0019901	Function	Protein kinase binding	IPI	8259215
GO:0030216	Process	Keratinocyte differentiation	IEA
GO:0030308	Process	Negative regulation of cell growth	IDA	10208428
GO:0030575	Process	Nuclear body organization	EXP	10360174
GO:0030889	Process	Negative regulation of B cell proliferation	ISS
GO:0031647	Process	Regulation of protein stability	IEP	10360174
GO:0031647	Process	Regulation of protein stability	ISS
GO:0031648	Process	Protein destabilization	IDA	9529249
GO:0032991	Component	Protein-containing complex	IDA	9529249
GO:0033088	Process	Negative regulation of immature T cell proliferation in thymus	ISS
GO:0033235	Process	Positive regulation of protein sumoylation	IMP	19057511
GO:0033598	Process	Mammary gland epithelial cell proliferation	IEA
GO:0033600	Process	Negative regulation of mammary gland epithelial cell proliferation	IEA
GO:0034393	Process	Positive regulation of smooth muscle cell apoptotic process	IEA
GO:0034393	Process	Positive regulation of smooth muscle cell apoptotic process	ISS	20381282
GO:0034504	Process	Protein localization to nucleus	IDA	10360174
GO:0035019	Process	Somatic stem cell population maintenance	IEA
GO:0035985	Component	Senescence-associated heterochromatin focus	IDA	16901784
GO:0042593	Process	Glucose homeostasis	IEA
GO:0043065	Process	Positive regulation of apoptotic process	IMP	22094112
GO:0043517	Process	Positive regulation of DNA damage response, signal transduction by p53 class mediator	IDA	9529249
GO:0043616	Process	Keratinocyte proliferation	IEA
GO:0045736	Process	Negative regulation of cyclin-dependent protein serine/threonine kinase activity	IDA	7739547
GO:0045786	Process	Negative regulation of cell cycle	IEA
GO:0045892	Process	Negative regulation of DNA-templated transcription	IMP	16901784
GO:0045893	Process	Positive regulation of DNA-templated transcription	IDA	17569660
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	17569660
GO:0046822	Process	Regulation of nucleocytoplasmic transport	IEA
GO:0046825	Process	Regulation of protein export from nucleus	IMP	10360174
GO:0048103	Process	Somatic stem cell division	ISS
GO:0050821	Process	Protein stabilization	IDA	9529249, 10360174, 17310983
GO:0051059	Function	NF-kappaB binding	IPI	10353611
GO:0051726	Process	Regulation of cell cycle	IDA	8259215, 9529249, 15149599
GO:0051726	Process	Regulation of cell cycle	IEA
GO:0051726	Process	Regulation of cell cycle	IEA
GO:0051726	Process	Regulation of cell cycle	IMP	16243918
GO:0051882	Process	Mitochondrial depolarization	IMP	25217637
GO:0055104	Function	Ligase inhibitor activity	IDA	9529249
GO:0055105	Function	Ubiquitin-protein transferase inhibitor activity	ISS
GO:0060057	Process	Apoptotic process involved in mammary gland involution	IEA
GO:0060058	Process	Positive regulation of apoptotic process involved in mammary gland involution	IEA
GO:0061629	Function	RNA polymerase II-specific DNA-binding transcription factor binding	IPI	19057511
GO:0070301	Process	Cellular response to hydrogen peroxide	IEA
GO:0070534	Process	Protein K63-linked ubiquitination	IDA	18305112
GO:0090398	Process	Cellular senescence	IEA
GO:0090398	Process	Cellular senescence	IEA
GO:0090398	Process	Cellular senescence	IMP	14966292, 16243918
GO:0090399	Process	Replicative senescence	IMP	14720514
GO:0090402	Process	Oncogene-induced cell senescence	IEA
GO:0097190	Process	Apoptotic signaling pathway	IMP	12082630
GO:0097371	Function	MDM2/MDM4 family protein binding	IPI	9529249, 10801444, 16173922
GO:0097718	Function	Disordered domain specific binding	IPI	12630860
GO:1900182	Process	Positive regulation of protein localization to nucleus	IDA	16173922
GO:1901798	Process	Positive regulation of signal transduction by p53 class mediator	IDA	16173922
GO:1902570	Process	Protein localization to nucleolus	EXP	10801444
GO:1903051	Process	Negative regulation of proteolysis involved in protein catabolic process	IEA
GO:1903051	Process	Negative regulation of proteolysis involved in protein catabolic process	IMP	25217637
GO:1903214	Process	Regulation of protein targeting to mitochondrion	IMP	25217637
GO:1904667	Process	Negative regulation of ubiquitin protein ligase activity	IDA	18560357
GO:1990000	Process	Amyloid fibril formation	IDA	12630860
GO:1990000	Process	Amyloid fibril formation	IMP	12630860
GO:1990948	Function	Ubiquitin ligase inhibitor activity	IDA	18560357
GO:2000045	Process	Regulation of G1/S transition of mitotic cell cycle	IBA
GO:2000045	Process	Regulation of G1/S transition of mitotic cell cycle	IDA	10208428
GO:2000059	Process	Negative regulation of ubiquitin-dependent protein catabolic process	IDA	16173922, 18560357
GO:2000059	Process	Negative regulation of ubiquitin-dependent protein catabolic process	IEA
GO:2000111	Process	Positive regulation of macrophage apoptotic process	IEA
GO:2000111	Process	Positive regulation of macrophage apoptotic process	ISS	20381282
GO:2000435	Process	Negative regulation of protein neddylation	IDA	18560357

MIM	HGNC	e!Ensembl
600160	1787	ENSG00000147889

P42771

Protein name

Cyclin-dependent kinase inhibitor 2A (Cyclin-dependent kinase 4 inhibitor A) (CDK4I) (Multiple tumor suppressor 1) (MTS-1) (p16-INK4a) (p16-INK4) (p16INK4A)

Protein function

Acts as a negative regulator of the proliferation of normal cells by interacting strongly with CDK4 and CDK6. This inhibits their ability to interact with cyclins D and to phosphorylate the retinoblastoma protein. {ECO:0000269|PubMed:16782892, E

PDB

1A5E , 1BI7 , 1DC2 , 2A5E , 7OZT

Family and domains

Tissue specificity

TISSUE SPECIFICITY: Widely expressed but not detected in brain or skeletal muscle. Isoform 3 is pancreas-specific. {ECO:0000269|PubMed:10445844}.

Sequence

MEPAAGSSMEPSADWLATAAARGRVEEVRALLEAGALPNAPNSYGRRPIQVMMMGSARVA
ELLLLHGAEPNCADPATLTRPVHDAAREGFLDTLVVLHRAGARLDVRDAWGRLPVDLAEE
LGHRDVARYLRAAAGGTRGSNHARIDAAEGPSDIPD

Sequence length

156

Q8N726

Protein name

Tumor suppressor ARF (Alternative reading frame) (ARF) (Cyclin-dependent kinase inhibitor 2A) (p14ARF)

Protein function

Capable of inducing cell cycle arrest in G1 and G2 phases. Acts as a tumor suppressor. Binds to MDM2 and blocks its nucleocytoplasmic shuttling by sequestering it in the nucleolus. This inhibits the oncogenic action of MDM2 by blocking MDM2-indu

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF07392	P19Arf_N	4 → 54	Cyclin-dependent kinase inhibitor 2a p19Arf N-terminus	Family

Sequence

MVRRFLVTLRIRRACGPPRVRVFVVHIPRLTGEWAAPGAPAAVALVLMLLRSQRLGQQPL
PRRPGHDDGQRPSGGAAAAPRRGAQLRRPRHSHPTRARRCPGGLPGHAGGAAPGRGAAGR
ARCLGPSARGPG

Sequence length

132

Interactions

View interactions

	KEGG		Reactome
	Endocrine resistance Platinum drug resistance Cell cycle p53 signaling pathway Cellular senescence Cushing syndrome Human cytomegalovirus infection Human T-cell leukemia virus 1 infection Pathways in cancer Viral carcinogenesis MicroRNAs in cancer Pancreatic cancer Glioma Melanoma Bladder cancer Chronic myeloid leukemia Non-small cell lung cancer Hepatocellular carcinoma		Apoptotic factor-mediated response Oxidative Stress Induced Senescence Senescence-Associated Secretory Phenotype (SASP) Oncogene Induced Senescence SUMOylation of DNA damage response and repair proteins SUMOylation of transcription factors Regulation of TP53 Degradation Cyclin D associated events in G1 Stabilization of p53 Transcriptional Regulation by VENTX Regulation of RUNX3 expression and activity Evasion of Oncogene Induced Senescence Due to Defective p16INK4A binding to CDK4 Evasion of Oncogene Induced Senescence Due to Defective p16INK4A binding to CDK4 and CDK6 Evasion of Oxidative Stress Induced Senescence Due to Defective p16INK4A binding to CDK4 Evasion of Oxidative Stress Induced Senescence Due to Defective p16INK4A binding to CDK4 and CDK6 Defective Intrinsic Pathway for Apoptosis Due to p14ARF Loss of Function Evasion of Oncogene Induced Senescence Due to p14ARF Defects Evasion of Oxidative Stress Induced Senescence Due to p14ARF Defects

2848

Show/Hide Causal Diseases (24)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Acute lymphoid leukemia	Likely pathogenic	rs2489277337, rs2489276701	RCV003444128 RCV003444129
CDKN2A-related disorder	Likely pathogenic; Pathogenic	rs587780668, rs730881674, rs1800586, rs104894094, rs104894095, rs141798398	RCV004754304 RCV003895073 RCV004754323 RCV004754252 RCV004754253 RCV003396344
Embryonal rhabdomyosarcoma	Likely pathogenic	rs1819713922	RCV006254253
Familial melanoma	Likely pathogenic; Pathogenic	rs2131148082, rs2131095862, rs2131112280, rs2131113797, rs2131148302, rs2131147969, rs2131148812, rs587780668, rs1819949737, rs1317637377, rs2131148531, rs2131096682, rs2131147945, rs587782083, rs587782206 View all (82 more)	RCV001368663 RCV001389216 RCV001380818 RCV001380650 RCV001385044 RCV002026032 RCV001992217 RCV000122949 RCV001916136 RCV001942064 RCV002041568 RCV001966514 RCV001986397 RCV000638995 RCV000458116 RCV000687345 RCV001239877 RCV000458351 RCV000161946 RCV001850264 RCV001225200 RCV000168189 RCV000232355 RCV001220072 RCV003746642 RCV000168272 RCV003074637 RCV003058215 RCV002824664 RCV002810716 RCV002938678 RCV000198192 RCV000206296 RCV000206427 RCV000554207 RCV000472170 RCV000471227 RCV000685369 RCV000229122 RCV000234329 RCV000234305 RCV005101031 RCV002512955 RCV000196633 RCV000205342 RCV000472219 RCV000227154 RCV000545232 RCV000471463 RCV000122946 RCV001239756 RCV003585387 RCV003585423 RCV003585616 RCV003584334 RCV003584386 RCV003746843 RCV003747360 RCV003746085 RCV003746237 RCV002524693 RCV003584593 RCV001239759 RCV000638957 RCV000460188 RCV000465157 RCV000466313 RCV000457482 RCV000459258 RCV000692301 RCV000807478 RCV000638987 RCV000638989 RCV002527070 RCV000528787 RCV000549066 RCV000541791 RCV000525976 RCV000543773 RCV000532665 RCV001382593 RCV001377736 RCV000698266 RCV000687200 RCV000638996 RCV000702250 RCV000686351 RCV000705257 RCV000694543 RCV000693768 RCV000692157 RCV000817300 RCV002535739 RCV000798145 RCV000811410 RCV000804158 RCV000817019 RCV001034206 RCV001034096 RCV001034207 RCV001055189 RCV001062903 RCV001378150 RCV001245432 RCV000525168 RCV005094344
Familial meningioma	Likely pathogenic	rs749714198	RCV005645086
Familial pancreatic carcinoma	Likely pathogenic; Pathogenic	rs730881674, rs1554654224	RCV005055353 RCV004760628
Gastric cancer	Pathogenic	rs1819949737, rs1482483082, rs864622636, rs1554656253	RCV005868442 RCV003164561 RCV005893712 RCV005902039
Glioma susceptibility 1	Likely pathogenic; Pathogenic	rs1060501262	RCV005899447
Hereditary cancer-predisposing syndrome	Pathogenic; Likely pathogenic	rs2131112280, rs398123152, rs2131147969, rs587780668, rs1819949737, rs2131147945, rs587782083, rs587782206, rs587782792, rs2489291666, rs2489290856, rs121913381, rs730881675, rs730881674, rs730881677 View all (61 more)	RCV004951655 RCV001524193 RCV002407276 RCV000163609 RCV002370509 RCV002407255 RCV000130579 RCV000130872 RCV000132342 RCV002355181 RCV002353994 RCV000160422 RCV000160406 RCV000493242 RCV000160412 RCV000160403 RCV000493169 RCV002387233 RCV002389912 RCV000162477 RCV000165798 RCV000167463 RCV002412994 RCV002408254 RCV002430503 RCV002446216 RCV002437664 RCV001183314 RCV000223581 RCV000221580 RCV000493865 RCV000218034 RCV000213802 RCV000222672 RCV000214923 RCV000213270 RCV000213788 RCV000220239 RCV000580515 RCV000561506 RCV003186853 RCV003186854 RCV001186483 RCV000115334 RCV000160421 RCV000167312 RCV000160413 RCV000494082 RCV000573952 RCV000219725 RCV003387334 RCV003387338 RCV005537594 RCV004520409 RCV004520411 RCV002323583 RCV001184202 RCV002411285 RCV001022735 RCV000775814 RCV000580123 RCV000571231 RCV002395167 RCV001025782 RCV000493771 RCV000494450 RCV000494445 RCV000492886 RCV002395198 RCV001027038 RCV002456105 RCV000570486 RCV000561416 RCV000565411 RCV000584101 RCV001012299 RCV000775634 RCV004949899 RCV006386984 RCV005306166 RCV002336628 RCV001025672 RCV005791978 RCV002411904 RCV000166566
Lip and oral cavity carcinoma	Likely pathogenic; Pathogenic	rs121913388, rs121913389, rs1819713922	RCV001255666 RCV001255669 RCV001255665
Lymphoma	Pathogenic	rs730881677	RCV005901908
Malignant tumor of esophagus	Likely pathogenic; Pathogenic	rs1060501266, rs730881677, rs1554656253	RCV005899449 RCV005901907 RCV005902038
Malignant tumor of urinary bladder	Pathogenic	rs121913387, rs730881677	RCV003332170 RCV005901906
Melanoma	Pathogenic; Likely pathogenic	rs1819949737, rs1800586, rs864622636, rs104894094, rs763804037, rs730881677, rs1554654224	RCV005868443 RCV002243829 RCV005893713 RCV000415140 RCV006254378 RCV005899660 RCV005898536 RCV005901909
Melanoma and neural system tumor syndrome	Likely pathogenic; Pathogenic	rs587780668, rs587782792, rs730881674, rs1800586, rs768966657, rs45476696, rs864622636, rs876660436, rs876658220, rs587778189, rs878853647, rs104894094, rs104894095, rs104894097, rs104894098 View all (10 more)	RCV002498582 RCV003474789 RCV003474829 RCV000763194 RCV003474844 RCV003474952 RCV003474986 RCV003475031 RCV003475002 RCV003475024 RCV004567708 RCV003473075 RCV003473076 RCV000763193 RCV003473078 RCV002496319 RCV003475645 RCV003475646 RCV003476034 RCV003476033 RCV003476185 RCV003476184 RCV003476189 RCV004568800 RCV004569210 RCV002506392 RCV003472005 RCV003472216
Melanoma, cutaneous malignant, susceptibility to, 2	Likely pathogenic; Pathogenic	rs587780668, rs1800586, rs878853647, rs121913388, rs587776716, rs104894094, rs104894095, rs104894097, rs104894098, rs104894099, rs104894109, rs137854599, rs2489291220, rs1060501266, rs1060501262, rs730881673, rs754806883 View all (2 more)	RCV000010023 RCV000763194 RCV000680454 RCV000010012 RCV000010013 RCV000010018 RCV000010021 RCV000010022 RCV000010027 RCV000010030 RCV000010032 RCV000010033 RCV004555919 RCV001849376 RCV001613294 RCV005398892 RCV002506392
Melanoma-pancreatic cancer syndrome	Pathogenic; Likely pathogenic	rs2131112280, rs398123152, rs587780668, rs587782206, rs2489290856, rs730881675, rs730881674, rs730881673, rs1800586, rs1060501265, rs587778189, rs2489292482, rs2131095688, rs45476696, rs864622636 View all (30 more)	RCV004793474 RCV005867145 RCV002498582 RCV005867919 RCV005869805 RCV000576843 RCV002288679 RCV005867963 RCV000576396 RCV005869820 RCV005867977 RCV005869825 RCV005248755 RCV000576665 RCV005868109 RCV005629514 RCV003316206 RCV003316223 RCV005868126 RCV003140341 RCV005600850 RCV005870108 RCV000010015 RCV000010019 RCV005364874 RCV000410204 RCV000576733 RCV000409228 RCV005357105 RCV003315501 RCV003316927 RCV003316976 RCV005629562 RCV005398594 RCV005355808 RCV000988152 RCV001310108 RCV005869511 RCV002272262 RCV000030680 RCV005869598 RCV005869632 RCV005398892 RCV002506392 RCV005870853 RCV001310109 RCV005870892 RCV005867850 RCV001523808
Neoplasm	Pathogenic; Likely pathogenic	rs587782206, rs864622636, rs876658220, rs121913388, rs121913389, rs121913387, rs730881673, rs141798398, rs1587330312, rs1820531050	RCV004668793 RCV005230085 RCV006273641 RCV005229774 RCV006273727 RCV000430418 RCV006273910 RCV005231320 RCV004669113 RCV004671215
Ovarian neoplasm	Pathogenic	rs1800586	RCV002243829
Pancreatic adenocarcinoma	Pathogenic	rs864622636, rs121913384	RCV005893711 RCV005900732
Spindle cell sarcoma	Pathogenic	rs1819949737	RCV006254314
Squamous cell carcinoma of the head and neck	Pathogenic; Likely pathogenic	rs1554653922, rs587778189, rs121913384, rs730881677	RCV005930375 RCV005895043 RCV005900731 RCV005901904
Squamous cell lung carcinoma	Pathogenic; Likely pathogenic	rs587782206, rs730881677, rs1554654224, rs1554656253	RCV001250938 RCV005899659 RCV005898535 RCV005901905 RCV005902037
Thyroid cancer, nonmedullary, 1	Likely pathogenic	rs1060501265	RCV005931902 RCV005899448

Show/Hide Unknown Diseases (13)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Alveolar rhabdomyosarcoma	Conflicting classifications of pathogenicity	rs11552822	RCV006253912
Atypical endometrial hyperplasia	Uncertain significance	rs1819723898	RCV003327300
Cervical cancer	Uncertain significance; Benign; Likely benign	rs2131079543, rs144481587	RCV005911368 RCV005887901
Clear cell carcinoma of kidney	Conflicting classifications of pathogenicity	rs45476696	RCV005900187
Colon adenocarcinoma	Uncertain significance	rs1057519882	RCV005934691
Hepatocellular carcinoma	-; Conflicting classifications of pathogenicity	rs1554654224, rs529380972	RCV005914513 RCV001258294
Hereditary cancer	Uncertain significance; Conflicting classifications of pathogenicity	rs372481694, rs104894097	RCV005229904 RCV005230384
Li-Fraumeni syndrome	Benign; Likely benign; Conflicting classifications of pathogenicity	rs144481587, rs201208890, rs191394143, rs529380972, rs372266620, rs764244718, rs116150891, rs3731249, rs1334828764	RCV005359075 RCV005359113 RCV005359211 RCV005359227 RCV005361193 RCV005361205 RCV005357251 RCV005357252 RCV005359592
Maffucci syndrome	Conflicting classifications of pathogenicity; Uncertain significance	rs199888003, rs751809654	RCV002467577 RCV002468426
Osteoblastic osteosarcoma	Conflicting classifications of pathogenicity	rs199907548	RCV000761151
Ovarian cancer	Conflicting classifications of pathogenicity	rs373407950, rs754806883	RCV003153415 RCV003153831
Retinoblastoma	Uncertain significance	rs1563888782	RCV000761090
Uterine corpus endometrial carcinoma	Benign; Likely benign	rs144481587	RCV005887902

Show/Hide Text Mining Associations (821)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
3 Hydroxy 3 Methylglutaryl CoA Lyase Deficiency	Associate	14982841
Abdominal Injuries	Associate	23154831
Aberrant Crypt Foci	Associate	12000733
Abnormalities Drug Induced	Associate	19131428, 24399002, 27568665
Abortion Habitual	Associate	39941094
Acrospiroma	Associate	27159948
Acute Disease	Associate	7742529
Adenocarcinoma	Associate	10601379, 12149142, 15098254, 15612080, 15785933, 16163549, 16598757, 16731604, 17072968, 17326708, 18410530, 18663352, 18831746, 19043591, 19366452 View all (31 more)
Adenocarcinoma	Inhibit	18296270, 21857254, 22908062, 26192918, 30375264
Adenocarcinoma	Stimulate	24258618, 26910219, 30946937
Adenocarcinoma Bronchiolo Alveolar	Associate	18296270
Adenocarcinoma Follicular	Associate	17117177
Adenocarcinoma in Situ	Associate	17192788
Adenocarcinoma Mucinous	Associate	16118624, 29793804, 32641744, 38369337
Adenocarcinoma of Lung	Associate	15266335, 15612080, 18927117, 21731750, 22460425, 25890228, 26069186, 27903974, 31017733, 31698633, 32445554, 33219256, 33960703, 35029906, 35253368, 36163168, 37801862, 37897649 View all (3 more)
Adenocarcinoma of Lung	Inhibit	32111252
Adenoma	Inhibit	10793069
Adenoma	Associate	11040180, 11549606, 17072968, 17117177, 17143260, 17641414, 20208994, 20653064, 22727996, 22908062, 23361049, 24178677, 25216220, 28600574, 30111351, 30578081, 34092617, 34762658 View all (3 more)
Adenoma	Stimulate	27976639, 33416096
Adenoma Islet Cell	Associate	10411935
Adenoma Liver Cell	Associate	12117890
Adenoma Pleomorphic	Associate	21732778, 23354794, 23900873, 33941588
Adenoma Villous	Associate	20653064
Adenomatous Polyposis Coli	Associate	21469422
Adenomyoma	Stimulate	33459390
Adenomyosis	Associate	16616093, 37019419
Adenosarcoma	Associate	35876683
Adenosarcoma of the uterus	Associate	35876683
Adrenocortical Carcinoma	Associate	25078331, 35462410, 37026918, 37997497
Agnosia	Associate	26560893
Aicardi Syndrome	Associate	29430168
Alagille Syndrome	Associate	37099537
Alcohol Related Disorders	Associate	36611155
Allan Herndon Dudley syndrome	Stimulate	38379276
Alopecia	Associate	17989730, 24244503, 25647436, 29267490
Alzheimer Disease	Associate	18761660, 24742402, 26510741, 36012652, 9176387
Alzheimer Disease	Inhibit	34219731
Ameloblastoma	Associate	24969987
amyloidosis IX	Associate	12610506
Amyotrophic Lateral Sclerosis	Associate	26210997
Anal Canal Carcinoma	Associate	25271758
Anemia	Associate	24344027
Aneuploidy	Associate	10319873, 25407517, 32698529
Aneurysm	Associate	21775993
Angina Unstable	Associate	35437049
Anhedonia	Associate	17459456
Anodontia	Associate	36351537, 36835617
Anophthalmia with pulmonary hypoplasia	Associate	23565280, 30836094, 35941161, 36717525, 37200008
Anus Diseases	Associate	24021343
Anus Neoplasms	Associate	18349847, 23018436, 24021343, 24817381, 25465729, 26457030, 32585996, 34310698
Anxiety	Associate	23185405
Anxiety Disorders	Associate	24302590
Aortic Aneurysm	Associate	19343170
Aortic Aneurysm Abdominal	Associate	24365123, 34062172
Aortic Aneurysm Thoracic	Associate	36291095
Aortic Valve Insufficiency	Stimulate	37500054
Appendiceal Neoplasms	Associate	31784493
Arteriolosclerosis	Associate	24135527
Arthritis Psoriatic	Associate	12507899
Arthritis Rheumatoid	Associate	16802342, 37547319
Asthma	Associate	37102654
Astrocytoma	Associate	10665922, 10764044, 11278920, 12548606, 14565158, 15367334, 15970925, 17493032, 20730472, 21113787, 21636552, 23721661, 24345274, 25853694, 26317630 View all (23 more)
Astrocytoma	Inhibit	21470325, 28181325
Ataxia Telangiectasia	Inhibit	11825926, 7606004, 7994022
Ataxia Telangiectasia	Associate	23687089, 24025864, 32345961, 32928147, 7632931, 9446664
Atelosteogenesis type 1	Associate	24353325
Atherosclerosis	Associate	17351341, 19343170, 21151960, 22706276, 24599170, 27539542, 27773886, 27905995, 36633253, 37117763
Atresia of small intestine	Associate	30375264
Atrial Fibrillation	Associate	32358844
Atrophy	Associate	14717921, 17183247, 19246640
Atypical Squamous Cells of the Cervix	Associate	15782067, 15858126, 16467166, 17230296, 21442767, 22299207, 24175764, 26335500, 29924960, 31752941, 39941094
Atypical Squamous Cells of the Cervix	Stimulate	29895125
Autoimmune Diseases	Associate	36267464
Bantu siderosis	Associate	22412179
Barrett Esophagus	Associate	10319873, 10601379, 15017433, 17326708, 18538141, 18831746, 19043591, 19584833, 19670330, 20576920, 20927195, 24025864, 25280564, 26068095, 26104750 View all (4 more)
Basal cell carcinoma infundibulocystic	Associate	36348437
Basaloid Follicular Hamartoma Syndrome Generalized Autosomal Dominant	Associate	25885064, 30312320, 36243680
Biliary Tract Neoplasms	Associate	12107841, 15471559, 33754015, 37341068, 9414654
Blast Crisis	Associate	15755284, 24673583
Blister	Associate	18466028
Bone Diseases	Associate	9309118
Bowen's Disease	Associate	27342647, 27833960, 35466139
Bowen's Disease	Stimulate	38527980
Brain Diseases	Associate	35908805
Brain Neoplasms	Associate	11101148, 15779580, 21381012, 24968695, 31287555, 33871399, 34864569, 34948172, 37527678, 37572870, 40721593
Brain Neoplasms	Stimulate	28445153
Branchioma	Associate	19365840, 29764277
Breast Neoplasms	Associate	10376981, 11839581, 15050918, 15318938, 15879498, 16766534, 16869768, 18006786, 18174243, 18519679, 18936692, 19125298, 19131428, 19240236, 19509227 View all (67 more)
Breast Neoplasms	Stimulate	21488187, 36203222
Breast Neoplasms	Inhibit	32067956
Brenner Tumor	Associate	23887305, 31695154, 33077920
Burkitt Lymphoma	Associate	16158958, 9473234
Buschke Lowenstein Tumor	Associate	34710998
Calcinosis	Stimulate	28192277
Calcinosis Cutis	Inhibit	11520274
Calcinosis Cutis	Associate	20683407, 23122366, 32657779, 38393464, 8611425
Carcinogenesis	Associate	10389982, 10535995, 10620109, 10830779, 11079730, 11676855, 11749694, 11819863, 12000709, 12046062, 12181248, 12632489, 12716465, 12717828, 15112341 View all (70 more)
Carcinogenesis	Inhibit	12907744, 17079452, 20884963, 24302590, 32521925
Carcinoid Tumor	Inhibit	11231488
Carcinoid Tumor	Associate	26008974
Carcinoma	Associate	11819820, 21113787, 25884453, 29615459, 29691299, 29788963, 30051528, 32879414, 34312479
Carcinoma	Inhibit	20884963, 33664427
Carcinoma Acinar Cell	Associate	29109526
Carcinoma Adenoid Cystic	Associate	15959912, 22157933, 23778141, 29430168
Carcinoma Adenosquamous	Associate	19270646
Carcinoma Basal Cell	Associate	10998150, 12485439, 15257310, 18760195, 19578363, 22082146, 23599161, 27039730, 29405243
Carcinoma Ductal	Associate	18936692, 24373193
Carcinoma Ductal	Stimulate	24146864
Carcinoma Ductal Breast	Associate	12010891, 26125737
Carcinoma Endometrioid	Associate	10682682, 21709441, 22027748, 26132201, 28155970, 33459390, 37773079, 39748714, 40462124
Carcinoma Endometrioid	Inhibit	20015385
Carcinoma Endometrioid	Stimulate	27902476
Carcinoma Hepatocellular	Associate	11286481, 11511787, 11953887, 12433278, 14507645, 14966347, 15112341, 16014626, 16254459, 17690210, 18161048, 19567783, 20079733, 22320884, 22860085 View all (30 more)
Carcinoma Hepatocellular	Inhibit	20569442
Carcinoma in Situ	Inhibit	10535995
Carcinoma in Situ	Associate	12368185, 15257310, 23724131, 26206555
Carcinoma Intraductal Noninfiltrating	Associate	15318938, 16869768, 17996643, 18936692, 20427430, 21756866, 21920875, 24093668, 24146864, 24978026, 25711229, 34001017
Carcinoma Large Cell	Associate	15154011, 16862075, 20032395, 26430808, 35477295
Carcinoma Large Cell	Inhibit	21857254
Carcinoma Merkel Cell	Associate	18219279, 26981779, 28359267, 36602798
Carcinoma Neuroendocrine	Associate	34401980, 35596001
Carcinoma Non Small Cell Lung	Associate	10063314, 10376986, 10574258, 11843312, 12149144, 14693837, 15042681, 16533425, 16598757, 16598760, 16705311, 17094392, 17449943, 17923752, 18449464 View all (25 more)
Carcinoma Non Small Cell Lung	Inhibit	15976342
Carcinoma Ovarian Epithelial	Associate	10471040, 17692085, 24913706, 24936796, 26043844, 26191276, 27770808, 31659108, 38012622
Carcinoma Pancreatic Ductal	Associate	12000709, 15985168, 16127777, 19006382, 21063957, 21469422, 22782330, 25156567, 25240578, 26669280, 27486979, 28007776, 28145465, 28720843, 28726808 View all (33 more)
Carcinoma Pancreatic Ductal	Stimulate	35445726
Carcinoma Papillary	Associate	17117177, 19564843, 22027748, 29034342, 29652189, 36192513, 37389960
Carcinoma Papillary	Stimulate	22766790
Carcinoma Renal Cell	Associate	11159196, 11749694, 17201148, 21330832, 22521293, 25137021, 25853938, 27144525, 28251886, 29135120, 33157048, 33547292, 33664427, 33932757, 34331411 View all (10 more)
Carcinoma Renal Cell	Stimulate	29076874
Carcinoma Renal Cell	Inhibit	32111252, 34687579, 7591954
Carcinoma Signet Ring Cell	Associate	11819820, 15818729, 37355152
Carcinoma Small Cell	Associate	15309021, 29788963, 30918106
Carcinoma Small Cell	Stimulate	16862075
Carcinoma Squamous Cell	Associate	10646891, 11267938, 11710944, 12499437, 12648234, 15140233, 15257310, 15309021, 15373786, 15785933, 16100457, 16358814, 16390241, 16445657, 16598757 View all (117 more)
Carcinoma Squamous Cell	Stimulate	15858126, 21819702, 29076874, 35920973
Carcinoma Squamous Cell	Inhibit	21857254, 28679648, 39222919
Carcinoma Transitional Cell	Associate	11045568, 11747331, 15161057
Carcinoma Verrucous	Inhibit	19465901
Carcinoma Verrucous	Associate	24350715, 27644660
Carcinosarcoma	Stimulate	27902476
Carcinosarcoma	Associate	38146588
Cardiomyopathy Dilated	Associate	36305972
Cardiomyopathy infantile histiocytoid	Inhibit	17117177
Cardiovascular Diseases	Associate	23134948, 28192277
Carotid Artery Diseases	Associate	24599170
Carotid Stenosis	Associate	24599170
Cartilage Diseases	Stimulate	30219053
Cell Transformation Neoplastic	Associate	14585358, 32024378
Cell Transformation Viral	Associate	11849214
Central Nervous System Infections	Associate	35701666, 38183430
Central Nervous System Neoplasms	Associate	35904890, 37947008
Cerebral Infarction	Associate	22776031, 28716248, 28975602, 29881905
Cerebral Small Vessel Diseases	Associate	22621687, 28975602
Chagas Disease	Associate	19414370
Cholangiocarcinoma	Associate	11034592, 12213730, 15467712, 22429346, 24186137, 24563076, 25536104, 27009864, 29484968, 29848569, 31659107, 33765338, 34810298, 35986087
Cholangitis Sclerosing	Associate	24390753, 34608877, 35897137
Cholestasis Extrahepatic	Associate	16390235
Chondrosarcoma	Associate	11332612, 18624751, 19336518, 25432631, 31604924, 31615936, 36926116
Chondrosarcoma	Inhibit	17559135
Chordoma	Associate	18071362, 21602918, 23019410, 24983247, 27072194, 36657718, 37434245
Chordoma	Inhibit	31916407
Choriocarcinoma	Associate	15507671, 23065465
Choroidal Effusions	Associate	32678499
Chromosomal Instability	Associate	17474983
Chromosome 4 monosomy 4p14 p16	Associate	11874489
Chromosome Aberrations	Associate	17440616
Chromosome Aberrations	Inhibit	20032395
Chromosome Deletion	Inhibit	35738002, 38641323
Chromosome Disorders	Associate	17201183, 36124964
Chronic Disease	Associate	7742529
Cleft Lip	Stimulate	39343816
Cleft Soft Palate	Associate	23504914
Cleidocranial Dysplasia	Associate	18203189
Cognition Disorders	Associate	27029014, 31654269
Cognition Disorders	Stimulate	31868677
Colitis Associated Neoplasms	Associate	16820088
Colitis Ulcerative	Associate	15292938, 16820088, 25076849, 33046033
Colonic Diseases	Associate	18555778
Colonic Neoplasms	Associate	11040180, 11232644, 11696421, 15860770, 18767147, 19331161, 23310950, 30897785, 32420374, 32727450
Colorectal Neoplasms	Associate	10639144, 11106567, 11232644, 11549606, 11819863, 12460469, 12499439, 12569385, 12716465, 12970888, 12973852, 14562378, 15122305, 15257310, 15476557 View all (81 more)
Colorectal Neoplasms	Stimulate	17641414, 35429970, 36444588
Colorectal Neoplasms Hereditary Nonpolyposis	Associate	19383812, 19690970, 28135145, 29791078, 38271656
Condylomata Acuminata	Associate	34710998, 40204208, 9846965
Congenital contractural arachnodactyly	Associate	34608877
Conjunctival Diseases	Associate	34779821
Conjunctival Neoplasms	Associate	16540490, 26400483
Corneal Endothelial Cell Loss	Inhibit	22310292
Coronary Aneurysm	Stimulate	28192277
Coronary Artery Disease	Associate	19343170, 21307941, 21971053, 22706276, 22768093, 23091611, 23104008, 23199516, 24573017, 24725463, 28107200, 31653960, 34615528, 38003316
Coronary Artery Disease Autosomal Dominant 1	Associate	22216278
Coronary Disease	Associate	18340101, 18599554, 21347282, 22152955, 22768093, 27594927, 37852142
COVID 19	Associate	37533853
Craniopharyngioma	Associate	35707464
Cystadenoma	Associate	24913706
Cystic Fibrosis	Associate	32792597
Cysts	Associate	26253305, 27647802
Cytokine Release Syndrome	Stimulate	25076849, 31970439
Cytokine Release Syndrome	Associate	30476917
Death	Associate	11958372, 17451198, 18418463, 22115925, 24104554, 25339028, 39354528, 9166859
Death	Inhibit	36284309
Deglutition Disorders	Associate	29281874
Dendritic Cell Sarcoma Follicular	Associate	26564005, 28621320, 37994105
Dental Caries	Associate	22726540
Dental Plaque	Associate	10793068
Depressive Disorder	Associate	23185405, 29349527
Depressive Disorder Major	Stimulate	23185405
Depressive Disorder Major	Associate	40149491
Dermatitis Atopic 1	Associate	37860000
Dermatofibrosarcoma	Associate	27256159, 35441365
Dextrocardia	Associate	8933346
Diabetes Gestational	Associate	25437179, 29544538
Diabetes Mellitus	Inhibit	12753296
Diabetes Mellitus	Associate	17463249, 18544707, 23197849, 26542317, 27486979, 30457165, 33490239
Diabetes Mellitus	Stimulate	37758806
Diabetes Mellitus Type 1	Inhibit	31299986
Diabetes Mellitus Type 2	Associate	17463248, 18368387, 18426861, 18461161, 18469204, 18633108, 18694974, 18768588, 19033397, 19228808, 19324937, 19343170, 19401414, 19862325, 20142250 View all (30 more)
Diabetic Nephropathies	Inhibit	12753296
Diarrhea 5 With Tufting Enteropathy Congenital	Associate	18708411, 21569495, 26137587, 35435356, 36149153, 36444605, 37820765
Diffuse Intrinsic Pontine Glioma	Inhibit	21138945
Diffuse Intrinsic Pontine Glioma	Associate	24076776, 32680567
Diffuse Neurofibrillary Tangles with Calcification	Associate	9176387
DiGeorge Syndrome	Inhibit	23661601
Digestive System Neoplasms	Associate	15173226
Digital Dermatitis	Associate	36319567
Disease	Associate	23154831, 24039221, 24401183, 9116295
Disease Progression	Associate	40141436
Down Syndrome	Associate	34140950, 38513239
Drug Hypersensitivity	Associate	29229598
Drug Related Side Effects and Adverse Reactions	Associate	17611411, 29983352, 31839602
Dykes Markes Harper syndrome	Associate	27090891, 37314514
Dyskinesias	Associate	24372672, 38530109
Dyslipidemias	Associate	26334876
Dysplastic Nevus Syndrome	Associate	10400925, 11500806, 11815963, 12115352, 12910525, 14584079, 15339339, 16358814, 18813118, 19035275, 21436693, 22178590, 25845251, 26111702, 31923587, 35123577, 36656212, 38554332 View all (3 more)
Eccrine Porocarcinoma	Associate	27159948
Ectodermal Dysplasia	Associate	15959912
Ectodermal Dysplasia	Stimulate	38206516
Ectromelia	Associate	8933346
Emphysema	Associate	19723343
Empyema Pleural	Associate	17428253
Encephalitis Herpes Simplex	Associate	20069634, 29895125
Encephalitis Herpes Simplex	Stimulate	27479745
Endodermal Sinus Tumor	Associate	31375771
Endometrial Hyperplasia	Associate	10682682, 21731750, 21920875, 30430425
Endometrial Neoplasms	Associate	10682682, 11570574, 12920579, 16928264, 19347018, 19366452, 20173732, 20534993, 20683407, 21851624, 22027748, 22114462, 23361049, 23719407, 26132201 View all (14 more)
Endometrial Neoplasms	Inhibit	20015385, 34380970
Endometrial Stromal Tumors	Associate	23221606, 36788095
Endometriosis	Associate	11163832, 16616093, 30946310, 35269619
Enhanced S Cone Syndrome	Inhibit	37770427
Eosinophilic Esophagitis	Associate	35437997
Ependymoma	Associate	14578171, 14631364, 37322295, 37947008
Epidermal Nevus	Associate	38555263
Epidermolysis Bullosa Dystrophica	Associate	15373786
Epidermolysis bullosa with pyloric atresia	Associate	20044755
Epileptic Syndromes	Associate	38138255
Epstein Barr Virus Infections	Associate	12460459, 16619489, 20978327, 24294363, 26560893, 28581676, 32374757, 37847488
Esophageal Achalasia	Associate	19414370, 20163722
Esophageal Diseases	Associate	35352503
Esophageal Neoplasms	Associate	11315260, 11815963, 12046062, 16163549, 17348438, 20388212, 21155014, 22219599, 22430803, 22726540, 23361049, 25280564, 25361631, 27893424, 29771415 View all (4 more)
Esophageal Neoplasms	Inhibit	15726543
Esophageal Squamous Cell Carcinoma	Associate	11079730, 11599796, 17094449, 17970080, 19137073, 20388212, 21150312, 21155014, 22450065, 22938432, 23244153, 23310950, 23448401, 25164462, 25239644 View all (15 more)
Esophagitis	Associate	22726540
Esthesioneuroblastoma Olfactory	Associate	28495808
Fallopian Tube Diseases	Associate	17192788
Familial cylindromatosis	Associate	30717762, 33826001
Fasciitis	Associate	34381187
Fatigue	Associate	29983352
Fatty Liver	Stimulate	36072934
Fetal Growth Retardation	Associate	19359039
Fibrocartilaginous embolism	Associate	33090381
Fibroma	Stimulate	17559135
Fibrosarcoma	Associate	21263217
Fibrosis	Associate	11171828, 12433278, 14717921, 17183247, 22236010, 31638980, 35718445, 38289501
Flatfoot	Associate	10417291
Focal Epithelial Hyperplasia	Associate	19035275, 21359449
Fractures Spontaneous	Stimulate	17487846
Fragile X Syndrome	Associate	27716889
Frailty	Associate	26692418, 26731175
Fraser Syndrome	Associate	19435948
Fuchs' Endothelial Dystrophy	Associate	23132454
Gallbladder Neoplasms	Associate	15655836, 18081229, 18158568, 25066711, 26617872, 30908307, 33813726, 34970422
Ganglioglioma	Associate	18371186, 29880043, 34355449
Gastritis	Associate	22558275
Gastroesophageal Reflux	Associate	24481601
Gastrointestinal Neoplasms	Associate	12973852, 16163549, 22534780, 25417611
Gastrointestinal Stromal Tumors	Inhibit	15181453
Gastrointestinal Stromal Tumors	Associate	15929122, 18813351, 19585585, 20872974, 22666745, 28270683
GATA2 Deficiency	Associate	11676855, 12823347
Genetic Diseases Inborn	Inhibit	15282669
Genetic Diseases Inborn	Associate	19110720
Genital Neoplasms Female	Associate	9159345
Gestational Trophoblastic Disease	Associate	15507671
Gingival Overgrowth	Associate	23803025
Glassy cell carcinoma of the cervix	Associate	14584070
Glaucoma	Associate	37345431
Glaucoma Open Angle	Associate	29104244
Glioblastoma	Associate	10653004, 10665922, 11068994, 11303791, 12173338, 17493032, 18691268, 18816605, 19435819, 20406234, 20822523, 21365010, 21713760, 21884817, 22046342 View all (41 more)
Glioblastoma	Inhibit	18981259, 19478948, 27172220, 34496929
Glioma	Associate	11278920, 11572856, 12173338, 12698196, 14583787, 16247447, 16986124, 19578367, 20154338, 20462933, 20822523, 20847058, 21029244, 21356187, 21470325 View all (49 more)
Glioma	Inhibit	19718409, 7887443
Gliosarcoma	Associate	10666371, 26443480, 31073965, 34504233
Gliosarcoma	Stimulate	20642852
Glomerulonephritis	Associate	14717921
Glomerulonephritis Membranous	Inhibit	16002406
Glomus Tumor	Associate	10079377
Glucose Intolerance	Associate	29544538
Glucosephosphate Dehydrogenase Deficiency	Associate	35725923
Glutaric Acidemia I	Associate	25882375, 30758123
Graft vs Host Disease	Associate	36470572
Granuloma	Stimulate	36183172
Granulosa Cell Tumor	Associate	32203090, 37565864
Growth Disorders	Associate	16723698
Growth Hormone Secreting Pituitary Adenoma	Associate	33416096
Haspeslagh Fryns Muelenaere syndrome	Associate	17149367
Head and Neck Neoplasms	Associate	10574255, 11207046, 16760277, 16948516, 17003776, 18178632, 20186832, 21063414, 22157933, 22430803, 22735904, 23444219, 24706381, 24710824, 24786473 View all (15 more)
Headache	Associate	26400483
Hearing Loss	Associate	39329776
Heart Diseases	Associate	22398292
Heart Failure	Associate	28980705
Heart Neoplasms	Associate	16163549
Heat Stroke	Associate	39955869
Helicobacter Infections	Associate	19596974, 22558275
Hemangioendothelioma Epithelioid	Associate	31577358, 37980390
Hemangioma	Associate	30070315, 35815421
Hemangioma capillary infantile	Associate	30070315
Hemangiopericytoma	Inhibit	18459177
Hemangiosarcoma	Inhibit	22310292
Hemangiosarcoma	Associate	23599148, 26440310
Hematologic Neoplasms	Associate	12213729, 7632963
Hemolytic Uremic Syndrome	Stimulate	28192277, 39510246
Hepatitis B	Associate	24254306, 26339389
Hepatitis B	Inhibit	7606004
Hepatitis C	Inhibit	10793069
Hepatitis Chronic	Associate	11171828
Hepatitis E	Associate	33009979
Hereditary Angioedema Types I and II	Associate	28658331
Hereditary Breast and Ovarian Cancer Syndrome	Associate	19450526, 21488187, 25064638, 30128536, 37706649, 9990866
Hereditary leiomyomatosis and renal cell cancer	Associate	19099554, 21174181, 33528622
Hereditary pancreatitis	Associate	11815963, 32113160
Histidinemia	Associate	34826742
Histiocytic Sarcoma	Associate	30626916
Histiocytoma Angiomatoid Fibrous	Inhibit	35347249
Histiocytoma Benign Fibrous	Associate	21649526
Histiocytoma Malignant Fibrous	Associate	17094467, 27152444
HIV Infections	Associate	22398292, 22738669, 26457030, 28019088, 29023464, 35027434
HIV Infections	Inhibit	22850945
Hodgkin Disease	Associate	11830490, 12213729, 19099554, 21174181, 24294363, 34807923, 39195213
Human Herpesvirus Type 6 Integrated	Associate	11559808
Huntington Disease	Associate	24742402, 33156570
Hutchinson's Melanotic Freckle	Associate	33910831
Hydatidiform Mole	Associate	15507671, 23065465
Hydatidiform Mole Invasive	Associate	23065465
Hydrocephalus	Associate	23900873
Hyperoxia	Associate	30508396
Hyperplasia	Associate	18466028, 26542317
Hypersensitivity Immediate	Associate	15339339, 30803219, 31976596
Hypertension	Associate	36862882
Hypertrophy	Associate	31638980, 32513152
Hypoglycemia	Associate	18633108
Hypomagnesemia primary	Associate	20069634, 22273477, 22850945, 26379150, 27509952, 28658133, 28730227, 29023464, 29895125, 33247678, 37302113, 37960754, 39712018
Hypopharyngeal Neoplasms	Associate	17786935, 20376678, 25640361, 30391364, 30552415
Hypotonia Cystinuria Syndrome	Inhibit	35738002
Hypotrichosis	Stimulate	27902476
Hypoxia	Associate	26498684
Hypoxia	Inhibit	9528826
Hypoxia Brain	Associate	26498684, 30646538
Ichthyosis prematurity syndrome	Inhibit	33455051
Ichthyosis X Linked	Associate	10077528, 31443718
Idiopathic Pulmonary Fibrosis	Associate	12169206, 30111332, 32851507, 33432658, 33705361, 35672770, 38215148
Idiopathic Pulmonary Fibrosis	Stimulate	27362652, 28860144
Immunoglobulin G4 Related Disease	Associate	10098732
Infarction	Associate	15932947, 29675777
Infections	Associate	11559808, 21330832, 24035114, 30134232, 32304153
Infections	Stimulate	35477295
Inferior Wall Myocardial Infarction	Stimulate	15932947
Inflammation	Associate	19043591, 20435884, 25076849, 25845251, 31096432, 31432701, 31831137, 33068091, 34074656, 35227955, 36042612, 36267464, 37950153, 38289501
Inflammation	Inhibit	33550279
Inflammatory Bowel Diseases	Associate	40149491
Infratentorial Neoplasms	Inhibit	28548702
Insulinoma	Associate	32103422
Intellectual Disability	Associate	16258260
Intervertebral Disc Degeneration	Stimulate	17498290
Intervertebral disc disease	Inhibit	32513152
Intestinal Diseases	Associate	24509200
Intestinal Neoplasms	Associate	18622497, 37845622
Intracranial Aneurysm	Associate	18997786, 22776031
Ischemia	Associate	20543577
Keloid	Associate	36183172
Keratoacanthoma	Associate	16390241, 26319365, 26402814
Keratosis	Associate	20383119, 26319365
Keratosis Actinic	Associate	15257310, 38527980
Keratosis Seborrheic	Associate	28410231
Keratosis Seborrheic	Inhibit	38527980
Kidney Calculi	Stimulate	34745087
Kidney Diseases	Stimulate	17183247
Kidney Failure Chronic	Associate	20225325, 20572035, 23310950
Kidney Neoplasms	Associate	11159196, 24970693, 35478773
Kidney Neoplasms	Inhibit	32111252
Kidney Tubular Necrosis Acute	Associate	22521293
Kininogen Deficiency High Molecular Weight and Low Molecular Weight	Associate	15650057
Kotzot Richter syndrome	Associate	31467127, 9531609
Lactic Acidosis Congenital Infantile Due To LAD Deficiency	Associate	40149491
Langerhans Cell Sarcoma	Associate	33410565
Laryngeal Neoplasms	Inhibit	11825926
Laryngeal Neoplasms	Associate	15083191, 17641416, 28849066, 29034342, 34538114
Leiomyoma	Stimulate	22233735
Leiomyoma	Inhibit	25607395
Leiomyoma	Associate	32372565
Leiomyomatosis	Associate	32341498, 32372565
Leiomyosarcoma	Inhibit	20884963
Leiomyosarcoma	Associate	23178314, 23334251, 25607395, 26261614, 28283584, 33788262
Lentigo	Associate	30279727
Leprosy Lepromatous	Associate	22144494
Lesch Nyhan Syndrome	Associate	19761686
Leukemia	Associate	11676855, 11750096, 18668134, 19737931, 22549447, 23828551, 24443786, 24528084, 34369425, 7795238, 7994022
Leukemia	Inhibit	7919362, 9166859
Leukemia B Cell	Associate	10666188, 18765795, 24673583
Leukemia Biphenotypic Acute	Associate	11380466, 26868379
Leukemia Biphenotypic Acute	Inhibit	7632963
Leukemia Large Granular Lymphocytic	Associate	37986346
Leukemia Lymphocytic Chronic B Cell	Associate	12393524, 12973852, 18166798, 24004666, 24421328, 31467127, 35845961, 7795238, 9375748, 9531609
Leukemia Lymphocytic Chronic B Cell	Inhibit	7632963
Leukemia Lymphoid	Associate	12228235, 14536079, 7919362
Leukemia Lymphoma Adult T Cell	Associate	10378889, 12846894, 19710698, 29084771, 7742529
Leukemia Lymphoma Adult T Cell	Inhibit	7632963
Leukemia Monocytic Acute	Associate	24727659
Leukemia Myelogenous Chronic BCR ABL Positive	Associate	12644017, 20082691, 24528084, 24673583, 35421941, 7718873
Leukemia Myelogenous Chronic BCR ABL Positive	Inhibit	7632963, 7919362
Leukemia Myeloid	Associate	16766511, 18519632, 18668134
Leukemia Myeloid Acute	Associate	19144660, 19556423, 22581002, 24164743, 24528084, 38513239, 39473411, 7544647, 7632963
Leukemia Myeloid Acute	Inhibit	19667402, 19748549, 20157576, 7919362
Leukemia Myelomonocytic Juvenile	Associate	26720758
Leukemia Plasma Cell	Associate	9012694
Leukemia Prolymphocytic T Cell	Associate	16565223, 20974048, 9375748
Leukemia Promyelocytic Acute	Associate	12899712
Leukemia T Cell	Associate	19737931
Leukemia T Cell	Inhibit	9422538
Leukoplakia	Associate	26960457
Leukoplakia Oral	Associate	18163473, 34409799, 35488777
Li Fraumeni Syndrome	Associate	32191290
Lichen Planus Oral	Associate	26398519, 32521925, 33274608
Lichen Planus Oral	Stimulate	29924765
Lichen Sclerosus et Atrophicus	Associate	18047520
Lipoma	Associate	31387607
Liposarcoma	Associate	23832711, 31387607, 31443718, 32175898, 35862385, 36464833, 37585199
Liver Cirrhosis	Associate	11953887, 14966347
Liver Neoplasms	Associate	31077599
Lobomycosis	Associate	36183172
Lumbar Stenosis Familial	Associate	31638980
Lumbar Stenosis Familial	Stimulate	32513152
Lung Diseases	Associate	22134685, 25064638, 32618129
Lung Diseases Interstitial	Associate	30111332, 35672770
Lung Neoplasms	Associate	10469971, 10535995, 11414196, 12169206, 15481085, 15976342, 16533425, 17876837, 18332107, 18449464, 18751376, 19181417, 19375815, 19472407, 19525976 View all (31 more)
Lung Neoplasms	Inhibit	14693837, 18379362, 19478948, 20407446, 33155773
Lupus Erythematosus Systemic	Associate	25986394
Lupus Erythematosus Systemic	Stimulate	28471483
Lymphatic Metastasis	Associate	11843312, 20572035, 22114462, 22588195, 22695536, 22786759, 23448401, 23497965, 24752007, 24817951, 26881928, 27072243, 27411473, 31492932, 31662516 View all (4 more)
Lymphatic Metastasis	Inhibit	16127777, 16390235, 17970080, 22860091, 22948376, 25890228, 26125737
Lymphatic Metastasis	Stimulate	17970082, 37652496
Lymphoma	Associate	10477703, 10520030, 10848787, 10854221, 11121148, 14536079, 15832193, 16369970, 21088137, 24815991, 26702065, 28002793, 30723112, 33509441, 34448823 View all (12 more)
Lymphoma	Inhibit	10793069, 9736037
Lymphoma B Cell	Associate	10477703, 10520030, 11438467, 11830494, 24030746, 26599546, 31738823, 32981916, 9473234
Lymphoma B Cell	Inhibit	12060387, 23559850
Lymphoma B Cell Marginal Zone	Associate	14976529, 15832193, 16357845, 22742986, 27102345, 36995085
Lymphoma B Cell Marginal Zone	Inhibit	16648871
Lymphoma Follicular	Associate	11756183, 24388756, 24832791, 27750045, 30446494, 9531609
Lymphoma Follicular	Inhibit	9736037
Lymphoma Large B Cell Diffuse	Associate	11756145, 12393524, 15886317, 16357845, 18287131, 18539616, 19020554, 20435884, 21504712, 22975378, 26780579, 28479318, 28804123, 29713087, 30723112 View all (6 more)
Lymphoma Large B Cell Diffuse	Inhibit	9736037
Lymphoma Large Cell Anaplastic	Associate	12213729, 9531609
Lymphoma Mantle Cell	Associate	11035575, 12683869, 15718413, 16690963, 18984860, 19477219, 19594747, 26022239, 29769262, 31808882, 37605345, 8978301, 9531609
Lymphoma Non Hodgkin	Associate	10848787, 10854221, 11874489, 12213729, 19383911, 22203921, 25667294, 28371465, 30059451, 30062862, 33153497, 34308104, 34694416, 7544647, 7632961, 7670111, 9490271, 9531609, 9616165 View all (4 more)
Lymphoma Non Hodgkin	Inhibit	12692043, 14976529, 7632963, 9736037
Lymphoma Non Hodgkin	Stimulate	21363920
Lymphoma Primary Cutaneous Anaplastic Large Cell	Associate	11121148
Lymphoma Primary Cutaneous Anaplastic Large Cell	Inhibit	20118908
Lymphoma T Cell	Associate	10477703, 7632961
Lymphoma T Cell Cutaneous	Associate	20118908
Lymphoma T Cell Peripheral	Associate	30782609, 33054126, 37078708, 37986346
Lymphoproliferative Disorders	Inhibit	10793069
Lymphoproliferative Disorders	Associate	25523612, 9326203
Malignant mesenchymal tumor	Associate	32889887
Malignant Teratocarcinosarcoma	Associate	35632780
Mandibular Injuries	Associate	35503452
MASS syndrome	Associate	32385140, 33896386
Mastocytosis	Associate	27333655
Medulloblastoma	Associate	15029256, 38289501
Melanocytic nevus syndrome congenital	Associate	37235909
Melanoma	Associate	10390011, 10400925, 10417291, 10620109, 10620111, 10732752, 10869234, 11104570, 11243640, 11500805, 11500806, 11506491, 11511314, 11518711, 11556834 View all (198 more)
Melanoma	Inhibit	15111324, 19158841, 19212341, 23253087, 23851445, 9856841
Melanoma astrocytoma syndrome	Associate	15937071, 24884915, 28699883, 37585199
Melanoma Cutaneous Malignant	Associate	10620111, 10732752, 10874641, 12107107, 12844286, 12910525, 15030338, 16374456, 17167857, 17218939, 18178632, 18612309, 18803811, 19158841, 19626699 View all (29 more)
Melanoma Pancreatic Cancer Syndrome	Associate	11815963, 12454511, 32941720, 35123577
Meningeal Carcinomatosis	Stimulate	20642852
Meningeal Carcinomatosis	Associate	24039221
Meningeal Neoplasms	Associate	32711494, 37548547
Meningioma	Associate	11485924, 25648363, 25993161, 26943583, 28699883, 33087175, 37014425, 37093270, 37947008
Meningioma	Inhibit	11958372
Mesothelioma	Associate	12589646, 12659954, 18379362, 25798586, 26918730, 27181379, 28283772, 32678499, 36901697, 37295554, 37400148, 37916370, 38017544
Mesothelioma	Inhibit	19478948, 22065079
Mesothelioma Malignant	Associate	12589646, 12659954, 16867217, 17270034, 17636483, 20081810, 20591913, 21642991, 22146010, 23450849, 23975423, 26057448, 26288396, 26291840, 26493618 View all (18 more)
Mesothelioma Malignant	Inhibit	18327208, 28704762, 34580349
Metaplasia	Associate	17192788, 17429140
Microsatellite Instability	Associate	10830779, 19761686, 21336261
Mitochondrial Diseases	Associate	22429346
Mixed Tumor Malignant	Associate	33068091
Mixed Tumor Mullerian	Associate	16803529
Monoclonal Gammopathy of Undetermined Significance	Associate	11418489, 15197802, 16840723, 17213358
Mouth Diseases	Associate	16411180, 16799478, 18719739, 21423154, 22395505, 22726540, 24146864, 26379150, 27588487, 27976639, 29684357, 30666677, 32841926, 33274608, 34319047 View all (5 more)
Mouth Diseases	Inhibit	24991542
Mouth Neoplasms	Associate	15731778, 16449996, 17179983, 17893905, 18719739, 19846940, 21569495, 25523612, 26137587, 27644660, 28836534, 29037125, 30926069, 31013839, 31835136 View all (5 more)
Mucoepidermoid Tumor	Associate	19827123
Multiple Myeloma	Associate	10397739, 11418489, 12199782, 12433679, 15197802, 16840723, 17213358, 18577263, 22984542, 23285118, 23301219, 23831116, 24987674, 29110637, 30280787 View all (11 more)
Multiple Sclerosis	Associate	38359693
Muscle Neoplasms	Associate	20683150
Muscular Disorders Atrophic	Stimulate	15888044
Muscular Dystrophy Congenital Megaconial Type	Associate	11332612
Mycosis Fungoides	Associate	10793068, 11850526, 11874489, 30144205
Mycosis Fungoides	Inhibit	20118908, 27473081
Myelodysplastic Syndromes	Associate	17577921, 18316853, 19144660, 19748549, 32372504, 34915860
Myeloproliferative Disorder Chronic with Eosinophilia	Associate	20591913
Myocardial Infarction	Associate	17351341, 21775993, 22776031, 24725463
Myoepithelioma	Inhibit	18604193
Myopathy Granulovacuolar Lobular with Electrical Myotonia	Associate	9176387
Myotonic Dystrophy	Associate	19246640, 29273724
Nasopharyngeal Carcinoma	Associate	11932901, 12181248, 17201146, 18751390, 19430707, 19757421, 21535891, 24751144, 25109634, 26294655, 26560893, 28445979, 28581676, 28851814, 30950204, 31270100, 31350975, 9546345 View all (3 more)
Nasopharyngeal Neoplasms	Associate	23289480, 26560893, 31270100
Necrosis	Associate	28686646, 31832685
Neoplasm Invasiveness	Associate	15098254, 15339339, 16390235, 21436693, 23303027, 25502898, 25523612, 27509952, 29034342, 29949150, 37787303, 38017544, 38135704
Neoplasm Invasiveness	Stimulate	19035275, 21756866
Neoplasm Metastasis	Associate	10535995, 11079730, 15655836, 16258509, 16534497, 17451198, 17641416, 18813351, 19757421, 20569442, 20703244, 22132162, 22786759, 22860091, 23497965 View all (32 more)
Neoplasm Metastasis	Inhibit	11511787, 17634487, 18650488, 22695536, 28179162, 37572870
Neoplasm Metastasis	Stimulate	20427430, 21572403, 23894465
Neoplasm Residual	Associate	25240578
Neoplasms	Inhibit	10022885, 10027410, 10063314, 10077528, 10098732, 10409753, 10446200, 10471040, 10535995, 10567880, 10594749, 10601379, 10620109, 10734227, 10793069 View all (400 more)
Neoplasms	Associate	10079377, 10207115, 10319873, 10329596, 10376969, 10376981, 10378889, 10389982, 10393843, 10400925, 10433931, 10465111, 10469971, 10574255, 10595915 View all (805 more)
Neoplasms	Stimulate	15339339, 23057811, 23663293, 29074172, 29703236, 30545241, 30571736, 31903158, 34452401
Neoplasms Adipose Tissue	Associate	28419547, 28473239
Neoplasms Basal Cell	Associate	21427726
Neoplasms Cystic Mucinous and Serous	Stimulate	16648864, 27902476
Neoplasms Cystic Mucinous and Serous	Associate	17429140, 23303027, 23558569, 27260518, 27926776, 34380970, 39748714
Neoplasms Germ Cell and Embryonal	Inhibit	9284835
Neoplasms Glandular and Epithelial	Associate	18816605, 19256755, 23299542, 24336157, 39748714
Neoplasms Glandular and Epithelial	Stimulate	21915330
Neoplasms Mesothelial	Associate	32036091
Neoplasms Radiation Induced	Inhibit	19718409
Neoplasms Radiation Induced	Associate	34545083, 34545084, 36788076
Neoplasms Second Primary	Associate	21381012
Neoplasms Squamous Cell	Associate	10389982, 18719739, 19924135, 20090212, 21225495, 21427726, 21436693, 21900200, 23244153, 24710824, 25115387, 25674264, 25885064, 27509952, 28353639 View all (6 more)
Neoplasms Unknown Primary	Associate	34302033
Neoplastic Cells Circulating	Associate	32314030
Neoplastic Syndromes Hereditary	Associate	11815963, 15304098, 20068151, 25236571, 25647737, 31203567, 33827469, 35777164, 9818027
Nephritis Interstitial	Associate	17183247
Nerve Sheath Neoplasms	Associate	28699883
Nervous System Neoplasms	Associate	17035234, 18551412
Neuralgia	Associate	29099504, 29141020, 34202213
Neurilemmoma	Associate	18551412, 35723634
Neuroblastoma	Associate	11481496, 15305192, 15390183, 18664255, 19466588, 20145180, 25028366, 36941772
Neurodegenerative Diseases	Associate	34219731
Neuroectodermal Tumor Melanotic	Associate	27519597
Neuroectodermal Tumors	Associate	16783165
Neuroectodermal Tumors Primitive	Associate	21798848, 28008994
Neuroectodermal Tumors Primitive Peripheral	Associate	36913073
Neuroendocrine Tumors	Associate	15154011, 16258509, 18646189, 26674347, 28008994, 29486199, 33005981
Neuroendocrine Tumors	Stimulate	29555602
Neurofibroma	Associate	10595918, 36866403, 37585199
Neurofibromatosis 1	Associate	11406645, 14565158
Neurofibromatosis 2	Associate	10595918
Neurofibrosarcoma	Associate	10595915, 11406645, 18650488, 25240281, 26191206, 26645727, 30864974, 32590748, 33707600, 34461930, 34816314, 36269225, 37246765, 37947008
Neurofibrosarcoma	Inhibit	10595918, 25189642
Neuroma Acoustic	Associate	36546557
Neurotoxicity Syndromes	Associate	30615147
Nevus	Associate	10417291, 10620111, 12406345, 12799637, 12910525, 15304099, 18025365, 19212341, 22311377, 23253087, 23361049, 28830827, 30566178, 31001908
Nevus Epithelioid and Spindle Cell	Associate	15111324, 34075771
Nevus Epithelioid and Spindle Cell	Inhibit	31719662
Nevus Pigmented	Associate	17578512, 21336261, 27152444, 9620301
Niemann Pick Disease Type C	Associate	19757421
Niemann Pick Disease Type C	Inhibit	23161911
NOG Related Symphalangism Spectrum Disorder	Associate	11747331
Non alcoholic Fatty Liver Disease	Associate	33508742
Non Muscle Invasive Bladder Neoplasms	Inhibit	12073046
Non Muscle Invasive Bladder Neoplasms	Associate	30258198, 31028363, 34697907, 34953602, 36198773, 37389960, 37787303, 9436977
Nonsyndromic Deafness	Associate	27152444
Nonsyndromic Holoprosencephaly	Associate	37132663
Obesity	Associate	18469204, 24058506, 33203726, 36585923
Obesity	Inhibit	21968977, 28630279
Oculocutaneous albinism type 2	Stimulate	15339339
Oculocutaneous albinism type 2	Associate	31976596
Oculopalatocerebral Syndrome	Associate	27040135
Odontogenic Cysts	Associate	14987156
Oligodendroglioma	Associate	10433931, 23071531, 26206478, 29489901, 31832685, 37032198, 37574201
Oncogene Addiction	Associate	22908062, 25674264, 33550279
Oncogene Addiction	Stimulate	29603831
Optic Nerve Glioma	Associate	20068183
Oral Submucous Fibrosis	Associate	27497264, 38050610, 38384018
Oropharyngeal Neoplasms	Associate	18474878, 20186832, 20423915, 22907805, 24104554, 24344027, 24706381, 24782031, 24962247, 25154822, 25544647, 25556463, 25619363, 25687724, 25752384 View all (29 more)
Oropharyngeal Neoplasms	Stimulate	21572403, 26411881
Osteoarthritis	Stimulate	30219053, 35776529
Osteoarthritis	Associate	32329817, 36817415
Osteogenesis imperfecta type 3	Associate	10620111
Osteoporosis	Associate	32662244, 37117763
Osteosarcoma	Associate	10207115, 11152455, 17611411, 21263217, 26261680, 30774116, 32191290, 35503452, 35689249, 36967449, 9782052
Osteosarcoma	Inhibit	19478948, 30643010, 9665476
Ovarian Cysts	Associate	17429140
Ovarian Diseases	Associate	10077528, 24913706, 30946310
Ovarian Diseases	Inhibit	9159345
Ovarian Neoplasms	Associate	10077528, 10471040, 11163832, 16773633, 16928264, 17134697, 17242700, 19258477, 20233889, 21131918, 21278246, 22174824, 23011824, 23303027, 23558569 View all (16 more)
Ovarian Neoplasms	Inhibit	17409409, 20179198
Paget Disease Extramammary	Associate	27159948
Pain	Associate	34216483
Pancreatic Cyst	Associate	26253305
Pancreatic Diseases	Associate	12610506
Pancreatic Intraductal Neoplasms	Associate	12010891, 28776573, 35013462
Pancreatic Neoplasms	Associate	10880379, 11161385, 11753042, 11815963, 12454511, 12610506, 12898359, 12910525, 14501508, 14584079, 14679123, 15173226, 15985168, 16127777, 16258260 View all (89 more)
Pancreatic Neoplasms	Inhibit	15832197, 22293850
Pancreatitis	Associate	25064638, 36269225
Papilloma	Associate	17367326, 17488337, 20549141, 22157933, 24372672, 26514506, 27342647, 31732387, 33203919, 39712018, 39929151
Papilloma Inverted	Associate	24039221
Papillomavirus Infections	Associate	15492761, 15858126, 16415792, 18032825, 21225495, 21330832, 22070675, 22273477, 23086695, 23403821, 23724131, 24037287, 24046371, 24820457, 25544708 View all (28 more)
Papillomavirus Infections	Inhibit	28155253
Papillomavirus Infections	Stimulate	35632780
Parathyroid Neoplasms	Associate	20208994, 21638518, 23715670, 28600574
Parkinson Disease	Associate	21871868, 24139521, 24742402, 31868677, 32868381, 34645462
Penile Diseases	Associate	18047520
Penile Neoplasms	Associate	18047520, 23341933, 26794389, 30312320, 31032357, 31856740, 32374757, 33092608, 36243680
Peri Implantitis	Associate	36267464
Peritoneal Neoplasms	Associate	31570769
Peritonitis	Inhibit	18327208, 36138075
Peritonitis	Associate	20081810, 24817951, 25798586, 26493618, 29048728, 31570769, 34448823, 37453150
Personality Disorders	Inhibit	17451198, 9531609
Personality Disorders	Associate	21900200
Personality Disorders	Stimulate	24146864
Peutz Jeghers Syndrome	Associate	26191312
Pharyngeal Neoplasms	Associate	33068091
Pheochromocytoma	Inhibit	19110720
Pheochromocytoma	Associate	19110720, 23785438
Philadelphia Chromosome	Associate	23521501, 27090891, 30190342
Phimosis	Associate	32374757
Phyllodes Tumor	Associate	37240386
Phyllodes Tumor of the Prostate	Associate	23916291
Pigmentation Disorders	Associate	20574843, 20876876, 25592620
Pinealoma	Associate	21798848
Pituitary Neoplasms	Associate	24198235, 31109334
Plasmacytoma	Associate	30572945, 9116295
Pleural Diseases	Associate	25889843, 26853494
Pleural Effusion	Associate	16983705, 17675763, 29656754, 32678499
Pleural Effusion Malignant	Associate	17675763, 18055295, 23736021
Polycythemia Vera	Stimulate	11369633
Polypoidal Choroidal Vasculopathy	Associate	9490271
Polyposis Syndrome Hereditary Mixed 1	Associate	27976639
Polyps	Associate	11839573, 24152881, 28081334
Poroma	Associate	27159948
Post Infectious Disorders	Inhibit	31243333
Posterior Capsular Rupture Ocular	Associate	22948376
Postoperative Hemorrhage	Associate	37548547
Pre Eclampsia	Inhibit	36834513
Precancerous Conditions	Associate	11286481, 19035275, 20019239, 21729305, 25557267, 27479745, 29190817, 31619262
Precancerous Conditions	Stimulate	16415792, 38527980
Precancerous Conditions	Inhibit	26338965
Precursor B Cell Lymphoblastic Leukemia Lymphoma	Associate	11895806, 17940204, 28481918, 30874617
Precursor Cell Lymphoblastic Leukemia Lymphoma	Associate	10090949, 10733508, 10854221, 11154239, 11278393, 11380395, 11441822, 11895806, 12870051, 15716599, 17008550, 18838613, 19737931, 20435627, 20453839 View all (27 more)
Precursor Cell Lymphoblastic Leukemia Lymphoma	Inhibit	23521501, 7632963, 7727766, 7833469, 7919362, 7994022, 8874207
Precursor T Cell Lymphoblastic Leukemia Lymphoma	Associate	11260073, 11278393, 11380395, 11380466, 11441822, 15713800, 15724842, 16192589, 20124220, 23521501, 25903014, 26463672, 32345961, 33306218, 36270471 View all (10 more)
Precursor T Cell Lymphoblastic Leukemia Lymphoma	Inhibit	15282669, 19478948, 19602459, 19737931, 26206799
Prediabetic State	Associate	26334876
Primary Myelofibrosis	Associate	11849214
Progeria	Stimulate	28192277
Prolactinoma	Associate	28438863
Prostatic Intraepithelial Neoplasia	Associate	16799475
Prostatic malacoplakia associated with prostatic abscess	Stimulate	37004506
Prostatic Neoplasms	Associate	16799475, 17634487, 18225581, 18670647, 20053773, 22221586, 23193118, 23585871, 25203674, 27268646, 27356744, 27444279, 31111520, 33522043, 35638715 View all (7 more)
Prostatic Neoplasms Castration Resistant	Associate	26603105
Prostatic stromal proliferation of uncertain malignant potential	Associate	21359449, 33164635, 36444605
Prostatitis	Associate	11943705, 12149142, 39873988
Proteinuria	Associate	17183247, 18768588
Pruritic urticarial papules plaques of pregnancy	Associate	27333655
Psychological Distress	Associate	14570874
Pterygium	Associate	17149367, 35435356
Pulmonary Disease Chronic Obstructive	Associate	22818553, 22829758, 30230590, 31481045, 32460521, 34831227, 38110986
Pulmonary Disease Chronic Obstructive	Stimulate	34456628
Pulmonary Emphysema	Associate	31481045
Pulmonary Sclerosing Hemangioma	Associate	21649526
Radiation Injuries	Inhibit	31243333
Rectal Neoplasms	Associate	26335606, 29949150
Renal cell carcinoma 1	Associate	29895125
Renal Insufficiency Chronic	Associate	28192277
Retinal Dysplasia	Associate	15017433, 16232183, 16948516, 17394499, 17549669, 18163473, 18538141, 19035275, 19584833, 20544710, 21436693, 21569495, 24853183, 25682992, 26068095 View all (8 more)
Retinoblastoma	Stimulate	11719516
Retinoblastoma	Associate	12610506, 15976342, 16880792, 17634487, 18047520, 18644346, 22278416, 22336108, 24046371, 25499675, 27527160, 29016839, 34187205, 35792876, 9774662
Rhabdoid Tumor	Associate	20212451, 21666498, 21871868
Rhabdomyosarcoma	Associate	10098732, 34325314, 36941772, 36966552
Rhabdomyosarcoma Alveolar	Associate	23469153, 37315267
Rhinitis Allergic	Associate	31096432, 33325534
Ring chromosome 4 syndrome	Associate	8933346
Rufous oculocutaneous albinism	Stimulate	15339339, 28658331
Rufous oculocutaneous albinism	Associate	27644676, 31976596
Salivary Gland Adenoma Pleomorphic	Associate	21063414, 21732778, 23354794
Salivary Gland Neoplasms	Associate	16760277, 23145162, 26247885
Sarcoma	Associate	11815963, 14584079, 16258501, 17094467, 23071715, 29099504, 31189996, 33963205, 34202213, 34302054, 35689249, 37585199, 40462124, 9916925
Sarcoma	Inhibit	19478948, 20884963
Sarcoma Alveolar Soft Part	Associate	32127467
Sarcoma Clear Cell	Associate	15298727, 35347249
Sarcoma Endometrial Stromal	Associate	32385140, 36788095
Sarcoma Ewing	Associate	11520274, 21559395, 25010205, 25223734
Sarcoma Kaposi	Associate	34448823
Schistosomiasis	Associate	15590562, 8900425
Schwannomatosis	Associate	32281771
Scleroderma Systemic	Associate	25986394, 36183172
Seckel syndrome 1	Associate	23401567
Seizures	Associate	37527678
Seminoma	Inhibit	9284835
Sex Cord Gonadal Stromal Tumors	Associate	36180576
Sezary Syndrome	Associate	11874489, 20118908, 26551670
Sick Sinus Syndrome	Associate	20473870, 33963001
Sick Sinus Syndrome	Stimulate	22986510
Sinonasal undifferentiated carcinoma	Stimulate	21805120
Sinonasal undifferentiated carcinoma	Associate	29547549, 33203919
Sjogren's Syndrome	Associate	29984480, 32159757
Skin Diseases	Associate	25735349
Skin Neoplasms	Associate	15160522, 18760195, 21209038, 24742402, 27039730
Sleep Apnea Obstructive	Associate	31552414
Sleep Deprivation	Stimulate	26336034
Sleep Disorders Circadian Rhythm	Associate	29848569, 31261650, 33669021
Sleep Initiation and Maintenance Disorders	Associate	22046342
Small Cell Lung Carcinoma	Associate	15022286, 20082263, 26008974, 26647789, 34719665, 38206516
Smoke Inhalation Injury	Associate	21487403
Smooth Muscle Tumor	Associate	25607395
Soft Tissue Neoplasms	Associate	35933574
Solitary Fibrous Tumor Pleural	Associate	23627453, 31371807
Solitary Fibrous Tumors	Associate	23627453
Spastic paraplegia 11 autosomal recessive	Associate	9436977
Specific Language Disorder	Associate	34473724
Spinal Dysraphism	Associate	34488370
Spinal Stenosis	Associate	32513152
Squamous Cell Carcinoma of Head and Neck	Associate	10389982, 11806150, 11825926, 15083191, 16467168, 17003776, 17079134, 17893905, 18708411, 20225325, 20473870, 20564751, 21359449, 21381012, 21448927 View all (169 more)
Squamous Cell Carcinoma of Head and Neck	Inhibit	11101148, 24425785, 24991542, 29097782, 29500045, 34409799
Squamous Cell Carcinoma of Head and Neck	Stimulate	20423915, 25536600, 27865363, 36826072
Squamous Intraepithelial Lesions	Associate	15098254, 16116604, 16467166, 17230296, 18300235, 20069634, 20544710, 20809026, 21103617, 21330832, 21442767, 22203921, 22299207, 22524808, 22675168 View all (25 more)
Squamous Intraepithelial Lesions	Stimulate	22080060, 24399002, 30545241
Status Asthmaticus	Associate	37860000
Stomach Diseases	Associate	12973852, 37845622
Stomach Neoplasms	Inhibit	10830779
Stomach Neoplasms	Associate	11819820, 12163364, 12194996, 12460459, 12632489, 12632492, 12695555, 12717828, 12746473, 12824886, 14556664, 15534905, 15818729, 16163549, 16224153 View all (51 more)
Stomach Neoplasms	Stimulate	37505170
Stomatitis	Associate	28445979
Stroke	Associate	19343170, 22776031, 32141564
Sunburn	Associate	31371819
Supratentorial Neoplasms	Associate	25586788
Synovitis	Associate	36817415
Syringoma	Associate	27159948
Tarlov Cysts	Inhibit	21469422
Telomeric 22q13 Monosomy Syndrome	Associate	17428253, 23185405
Teratoma	Associate	25735349
Teratoma Ovarian	Associate	25735349
Tertiary Lymphoid Structures	Associate	11819820, 37148002
Testicular Germ Cell Tumor	Inhibit	9284835
Testicular Neoplasms	Associate	32928147, 39300957
Tetra amelia with ectodermal dysplasia and lacrimal duct abnormalities	Associate	16184585
Thinness	Associate	36221425
Thrombosis	Inhibit	24398474
Thymic epithelial tumor	Associate	26537237, 27844328, 36307042, 37703595
Thymoma	Associate	24974848, 26537237, 28179162, 37703595, 37749819
Thymus Neoplasms	Associate	34583424
Thyroid Cancer Papillary	Associate	23497965, 26446458, 35718445, 37560303
Thyroid Carcinoma Anaplastic	Inhibit	22688732
Thyroid Carcinoma Anaplastic	Associate	28489587, 29615459, 30758123, 31235699
Thyroid Carcinoma Papillary With Papillary Renal Neoplasia	Associate	24302621
Thyroid Neoplasms	Associate	17117177, 19589279, 23218882, 26422859, 27507052, 28042956, 31235699, 35459137
Thyroid Nodule	Associate	37560303
Thyrotropin Biologically Inactive	Associate	19485966
Tongue Diseases	Associate	26057450
Tongue Neoplasms	Associate	23504914, 25339028, 33146897, 34216483
Tongue Neoplasms	Stimulate	27086486
Tonsillar Neoplasms	Associate	12598309, 19305381, 23504914, 24752007, 25687724, 29048728, 35632780
Tooth Loss	Stimulate	21423154
Trichodysplasia Xeroderma	Associate	25291363
Triple Negative Breast Neoplasms	Associate	23887295, 24096545, 24146864, 25056374, 28248879, 28445153, 30003738, 30060056, 34922607, 36052076, 36870308
Triple Negative Breast Neoplasms	Inhibit	26339389
Tubular Sweat Gland Adenomas	Associate	27159948
Tufted angioma	Stimulate	22766790
Turcot syndrome	Associate	30578081, 34473724
Tyrosinemias	Associate	20422055
Uniparental Disomy	Inhibit	25903014
Uniparental Disomy	Associate	30616092, 31734631, 37801862
Upton Young syndrome	Associate	16880792, 29405243, 30791119
Urethral Diseases	Associate	25069600, 29642177
Urethral Neoplasms	Associate	16775427, 18334837, 20890425, 22419364, 22685613, 22761304, 24302621, 25069600, 25224768, 26651075, 28371465, 34074656, 35699000, 37787303, 37938166, 9439683 View all (1 more)
Urethritis	Associate	29487377
Urinary Bladder Diseases	Associate	14692829
Urinary Bladder Diseases	Stimulate	23899065
Urinary Bladder Neoplasms	Associate	10376969, 10393843, 11045568, 12073046, 15226775, 15507675, 15790699, 15897688, 19924441, 20683150, 21523718, 22419364, 22761304, 23356517, 23899065 View all (24 more)
Urinary Bladder Neoplasms	Inhibit	15590562, 18234962
Urologic Neoplasms	Associate	34980126
Uterine Cervical Diseases	Associate	12911724, 15785933, 18300235, 18466028, 25069600, 25845251, 38527989
Uterine Cervical Dysplasia	Associate	12000709, 12499437, 12598309, 15098254, 15492761, 15502810, 15785933, 15832197, 15858126, 16100457, 16445657, 16467166, 16998595, 17029280, 17334990 View all (54 more)
Uterine Cervical Dysplasia	Stimulate	15339339, 38527980
Uterine Cervical Dysplasia	Inhibit	23828315
Uterine Cervical Neoplasms	Associate	10535995, 12911724, 15143339, 15339339, 15502810, 15858126, 16803511, 17029280, 17359536, 19256750, 21245294, 21436693, 21729305, 21747645, 22072122 View all (47 more)
Uterine Cervical Neoplasms	Stimulate	16415792, 24302179
Uterine Cervicitis	Associate	12499437, 15098254, 15211472, 15502810, 16411180, 16415792, 17029280, 17230296, 18466028, 19256755, 20069634, 20809026, 22524808, 24322019, 24925218 View all (19 more)
Uterine Diseases	Associate	17429140, 22766790, 24878818, 32300484, 36221425
Uveal melanoma	Associate	10732752, 18205010, 25787093
Vaginal Neoplasms	Associate	24525695
Vascular Calcification	Associate	24725463, 27773886, 27905995
Vascular Diseases	Associate	22776031
Vascular Ring	Associate	31638980, 32513152
Vascular System Injuries	Inhibit	24398474
Vasculitis Leukocytoclastic Cutaneous	Associate	15140233, 18712977, 26429157
Vasculitis Leukocytoclastic Cutaneous	Inhibit	16989737
VATER association	Associate	21469422
Venous Thromboembolism	Associate	36435047
Virus Diseases	Associate	22034884, 33073644, 33098030
Vitiligo	Stimulate	23555779
Vulvar Neoplasms	Associate	25605180, 27411473, 28884278, 31970493, 40198066
Vulvar Neoplasms	Inhibit	9159345
Waardenburg syndrome type 4	Associate	21627359
Werner Syndrome	Associate	12615976
Wilms Tumor	Associate	20569696, 22534780, 35436013, 40340749
X Linked Combined Immunodeficiency Diseases	Associate	37938166
Xeroderma Pigmentosum	Associate	12485439
Xeroderma Pigmentosum Complementation Group C	Associate	12485439

CDKN2A (cyclin dependent kinase inhibitor 2A)