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	1499
Gene name	Catenin beta 1
Gene symbol	CTNNB1
Synonyms (NCBI Gene)	CTNNBEVR7MRD19NEDSDVarmadillo
Chromosome	3
Chromosome location	3p22.1
Summary	The protein encoded by this gene is part of a complex of proteins that constitute adherens junctions (AJs). AJs are necessary for the creation and maintenance of epithelial cell layers by regulating cell growth and adhesion between cells. The encoded prot

Show/Hide all (89)

SNP ID	Visualize variation	Clinical significance	Consequence
rs28931588	G>A,C,T	Pathogenic, other, likely-pathogenic	Missense variant, coding sequence variant
rs28931589	G>A,C,T	Uncertain-significance, pathogenic, other, likely-pathogenic	Missense variant, coding sequence variant
rs77064436	T>C,G	Likely-pathogenic	Coding sequence variant, missense variant
rs121913228	T>C,G	Likely-pathogenic	Missense variant, coding sequence variant
rs121913394	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs121913395	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs121913396	A>C,G,T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs121913399	G>A,C	Likely-pathogenic	Missense variant, coding sequence variant
rs121913400	C>A,G,T	Pathogenic, pathogenic-likely-pathogenic, likely-pathogenic, other	Missense variant, coding sequence variant
rs121913403	C>A,G,T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs121913407	T>C,G	Pathogenic, pathogenic-likely-pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs121913409	C>A,G,T	Pathogenic, pathogenic-likely-pathogenic, likely-pathogenic, other	Missense variant, coding sequence variant
rs121913412	A>C,G,T	Pathogenic, conflicting-interpretations-of-pathogenicity, likely-pathogenic, other	Missense variant, coding sequence variant
rs121913413	C>A,T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs121913416	TTAGTCACTGGCAGCAACAGTCTTACCTGGACTCTGGAATCCATTCTGGTG>-	Likely-pathogenic	Inframe deletion, coding sequence variant
rs121913417	GGCAGCAACAGTCTTACCTGGACT>-	Likely-pathogenic	Inframe deletion, coding sequence variant
rs376393123	C>G,T	Pathogenic	Missense variant, coding sequence variant, stop gained
rs397514554	C>T	Pathogenic	Coding sequence variant, stop gained
rs398122907	TTCT>-	Pathogenic	Coding sequence variant, frameshift variant
rs483352717	G>A	Likely-pathogenic	Coding sequence variant, synonymous variant
rs587776850	TCT>-	Other, pathogenic	Coding sequence variant, inframe deletion
rs587777412	->A	Pathogenic	Coding sequence variant, frameshift variant
rs748294403	C>A,T	Pathogenic	Stop gained, coding sequence variant, synonymous variant
rs748653573	C>A,T	Pathogenic	Missense variant, intron variant, coding sequence variant
rs750402920	T>C,G	Pathogenic	Stop gained, coding sequence variant, synonymous variant
rs775104326	C>A,T	Pathogenic	Coding sequence variant, stop gained, synonymous variant
rs778624338	C>A,T	Pathogenic	Coding sequence variant, stop gained, synonymous variant
rs797044875	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs863224864	T>G	Likely-pathogenic	Missense variant, coding sequence variant
rs864309577	C>T	Pathogenic	Stop gained, coding sequence variant
rs886039332	C>T	Pathogenic, likely-pathogenic	Stop gained, coding sequence variant
rs886041281	->A	Pathogenic	Stop gained, coding sequence variant
rs886041444	CT>-	Pathogenic	Frameshift variant, coding sequence variant
rs886041553	G>A	Pathogenic	Stop gained, coding sequence variant
rs1057519379	->C	Pathogenic	Frameshift variant, coding sequence variant
rs1057519380	->TAGCTATCGTTCTTTT	Pathogenic	Intron variant, stop gained, coding sequence variant
rs1057519836	A>C,G,T	Likely-pathogenic	Missense variant, coding sequence variant
rs1057519837	C>G,T	Likely-pathogenic	Missense variant, coding sequence variant
rs1057519886	T>A,C,G	Likely-pathogenic	Missense variant, coding sequence variant
rs1057520556	A>T	Pathogenic	Stop gained, coding sequence variant
rs1057520730	T>A	Pathogenic	Stop gained, coding sequence variant
rs1057521882	G>C	Likely-pathogenic	Splice acceptor variant, intron variant
rs1064793509	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs1064793948	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs1064796240	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1064796453	C>A,T	Pathogenic	Stop gained, synonymous variant, coding sequence variant
rs1064796646	G>C	Pathogenic	Intron variant
rs1131691585	C>G	Likely-pathogenic	Intron variant
rs1131691736	AGCTGCTATG>-	Pathogenic	Frameshift variant, coding sequence variant
rs1131692181	C>T	Pathogenic	Stop gained, coding sequence variant
rs1369821061	C>A,T	Pathogenic	Synonymous variant, coding sequence variant, stop gained
rs1553630279	C>T	Pathogenic	Stop gained, coding sequence variant
rs1553630304	->CAAGATGATGCAGAACTTGCCACACGTGCAATCCCTGAACTGAC	Pathogenic	Inframe insertion, stop gained, coding sequence variant
rs1553630458	TC>-	Pathogenic	Frameshift variant, coding sequence variant
rs1553630472	C>T	Pathogenic	Stop gained, coding sequence variant
rs1553630507	ACA>CC	Pathogenic	Frameshift variant, coding sequence variant
rs1553630789	A>G	Pathogenic	Splice acceptor variant
rs1553630795	->G	Pathogenic	Frameshift variant, coding sequence variant
rs1553631770	A>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1553631783	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1553631845	CT>G	Pathogenic	Frameshift variant, coding sequence variant
rs1553631860	C>T	Pathogenic	Stop gained, coding sequence variant
rs1553631896	->A	Pathogenic	Frameshift variant, coding sequence variant
rs1553632001	G>C	Pathogenic	Synonymous variant, coding sequence variant
rs1553632357	G>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1553632361	AG>-	Pathogenic	Frameshift variant, coding sequence variant
rs1553632412	G>A	Pathogenic	Stop gained, coding sequence variant
rs1553632414	T>C,G	Pathogenic	Splice donor variant
rs1559468403	G>C	Pathogenic	Splice donor variant
rs1559470315	CCACAAGCAG>T	Likely-pathogenic	Inframe indel, coding sequence variant
rs1559474040	C>T	Pathogenic	Stop gained, coding sequence variant
rs1559474311	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1559474364	A>T	Pathogenic	Stop gained, coding sequence variant
rs1559474557	C>T	Pathogenic	Stop gained, coding sequence variant
rs1559474966	C>T	Pathogenic	Stop gained, coding sequence variant
rs1559477241	G>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1559478415	->A	Pathogenic	Frameshift variant, intron variant, coding sequence variant
rs1575315766	->T	Pathogenic	Frameshift variant, coding sequence variant
rs1575316657	->G	Pathogenic	Frameshift variant, coding sequence variant
rs1575317915	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1575320216	ATCT>-	Pathogenic	Frameshift variant, coding sequence variant
rs1575328856	CTGTCTTT>-	Pathogenic	Frameshift variant, coding sequence variant
rs1575329479	CTTC>-	Pathogenic	Frameshift variant, coding sequence variant
rs1575330336	->T	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1575333081	->A	Pathogenic	Frameshift variant, coding sequence variant
rs1575334103	G>T	Pathogenic	Stop gained, coding sequence variant
rs1575334396	->TG	Pathogenic	Frameshift variant, coding sequence variant
rs1575337368	->C	Pathogenic	Frameshift variant, intron variant, coding sequence variant
rs1575339920	A>-	Likely-pathogenic	Frameshift variant, intron variant, coding sequence variant

314

Show/Hide all (314)

miRTarBase ID	miRNA	Experiments	Reference
MIRT001175	hsa-miR-200a-3p	qRT-PCRLuciferase reporter assayWestern blot	19703993
MIRT001175	hsa-miR-200a-3p	qRT-PCRLuciferase reporter assayWestern blot	19703993
MIRT001175	hsa-miR-200a-3p	Luciferase reporter assay	19703993
MIRT001175	hsa-miR-200a-3p	Luciferase reporter assayqRT-PCRWestern blot	19931509
MIRT001557	hsa-miR-155-5p	pSILAC	18668040
MIRT007031	hsa-miR-214-3p	Luciferase reporter assay	23068095
MIRT001175	hsa-miR-200a-3p	Reporter assay;Western blot;qRT-PCR	19931509
MIRT001557	hsa-miR-155-5p	Proteomics;Other	18668040
MIRT022723	hsa-miR-124-3p	Proteomics;Microarray	18668037
MIRT024185	hsa-miR-221-3p	Sequencing	20371350
MIRT025403	hsa-miR-34a-5p	Proteomics	21566225
MIRT025403	hsa-miR-34a-5p	Proteomics	21566225
MIRT028521	hsa-miR-30a-5p	Proteomics	18668040
MIRT043472	hsa-miR-331-3p	CLASH	23622248
MIRT037926	hsa-miR-532-3p	CLASH	23622248
MIRT037700	hsa-miR-744-5p	CLASH	23622248
MIRT036496	hsa-miR-1226-3p	CLASH	23622248
MIRT001175	hsa-miR-200a-3p	Luciferase reporter assayqRT-PCRWestern blot	22211245
MIRT001175	hsa-miR-200a-3p	FlowLuciferase reporter assayWestern blot	22211245
MIRT053427	hsa-miR-512-5p	Microarray	23807165
MIRT053731	hsa-miR-624-3p	Microarray	22942087
MIRT007031	hsa-miR-214-3p	FlowLuciferase reporter assayqRT-PCRWestern blot	22962603
MIRT054050	hsa-miR-34a-3p	Luciferase reporter assayWestern blot	22421157
MIRT054050	hsa-miR-34a-3p	Luciferase reporter assayWestern blot	22421157
MIRT054051	hsa-miR-34b-5p	Luciferase reporter assayWestern blot	22421157
MIRT054051	hsa-miR-34b-5p	Luciferase reporter assayWestern blot	22421157
MIRT054052	hsa-miR-34c-3p	Luciferase reporter assayWestern blot	22421157
MIRT054052	hsa-miR-34c-3p	Luciferase reporter assayWestern blot	22421157
MIRT307297	hsa-miR-548l	HITS-CLIP	23313552
MIRT704447	hsa-miR-875-5p	HITS-CLIP	23313552
MIRT704446	hsa-miR-3973	HITS-CLIP	23313552
MIRT704445	hsa-miR-520g-3p	HITS-CLIP	23313552
MIRT704444	hsa-miR-520h	HITS-CLIP	23313552
MIRT704443	hsa-miR-3688-5p	HITS-CLIP	23313552
MIRT704442	hsa-miR-891a-3p	HITS-CLIP	23313552
MIRT704441	hsa-miR-3144-3p	HITS-CLIP	23313552
MIRT704440	hsa-miR-7108-5p	HITS-CLIP	23313552
MIRT704439	hsa-miR-4474-3p	HITS-CLIP	23313552
MIRT704438	hsa-miR-607	HITS-CLIP	23313552
MIRT704437	hsa-miR-2113	HITS-CLIP	23313552
MIRT704436	hsa-miR-5010-3p	HITS-CLIP	23313552
MIRT524299	hsa-miR-142-3p	PAR-CLIP	20371350
MIRT307327	hsa-miR-7849-3p	PAR-CLIP	20371350
MIRT091934	hsa-miR-5586-3p	PAR-CLIP	20371350
MIRT091935	hsa-miR-8062	PAR-CLIP	20371350
MIRT209910	hsa-miR-4255	PAR-CLIP	20371350
MIRT091932	hsa-miR-4765	PAR-CLIP	20371350
MIRT091926	hsa-miR-183-3p	PAR-CLIP	20371350
MIRT091931	hsa-miR-3591-5p	PAR-CLIP	20371350
MIRT524299	hsa-miR-142-3p	PAR-CLIP	20371350
MIRT091934	hsa-miR-5586-3p	PAR-CLIP	20371350
MIRT091935	hsa-miR-8062	PAR-CLIP	20371350
MIRT209910	hsa-miR-4255	PAR-CLIP	20371350
MIRT091932	hsa-miR-4765	PAR-CLIP	20371350
MIRT091926	hsa-miR-183-3p	PAR-CLIP	20371350
MIRT091931	hsa-miR-3591-5p	PAR-CLIP	20371350
MIRT524299	hsa-miR-142-3p	PAR-CLIP	23446348
MIRT091934	hsa-miR-5586-3p	PAR-CLIP	23446348
MIRT091935	hsa-miR-8062	PAR-CLIP	23446348
MIRT209910	hsa-miR-4255	PAR-CLIP	23446348
MIRT091932	hsa-miR-4765	PAR-CLIP	23446348
MIRT091931	hsa-miR-3591-5p	PAR-CLIP	23446348
MIRT001175	hsa-miR-200a-3p	Luciferase reporter assay	26878281
MIRT001175	hsa-miR-200a-3p	Luciferase reporter assay	26878281
MIRT731452	hsa-miR-370-3p	Luciferase reporter assay	27138069
MIRT731452	hsa-miR-370-3p	Luciferase reporter assay	27138069
MIRT732085	hsa-miR-375	Luciferase reporter assay	28158288
MIRT732085	hsa-miR-375	Luciferase reporter assay	28158288
MIRT732180	hsa-miR-3162-3p	Luciferase reporter assayqRT-PCRWestern blot	26959414
MIRT732180	hsa-miR-3162-3p	Luciferase reporter assayqRT-PCRWestern blot	26959414
MIRT732180	hsa-miR-3162-3p	Luciferase reporter assayqRT-PCRWestern blot	26959414
MIRT732180	hsa-miR-3162-3p	Luciferase reporter assayqRT-PCRWestern blot	26959414
MIRT755393	hsa-miR-181a-5p	Luciferase reporter assayWestern blot	28086904
MIRT755393	hsa-miR-181a-5p	Luciferase reporter assayWestern blot	28086904
MIRT001175	hsa-miR-200a-3p	ImmunocytochemistryLuciferase reporter assayqRT-PCRWestern blot	28302418
MIRT001175	hsa-miR-200a-3p	ImmunocytochemistryLuciferase reporter assayqRT-PCRWestern blot	28302418
MIRT001175	hsa-miR-200a-3p	ImmunocytochemistryLuciferase reporter assayqRT-PCRWestern blot	28302418
MIRT001175	hsa-miR-200a-3p	ImmunocytochemistryLuciferase reporter assayqRT-PCRWestern blot	28302418
MIRT007031	hsa-miR-214-3p	Luciferase reporter assayqRT-PCRWestern blot	26807179
MIRT025403	hsa-miR-34a-5p	qRT-PCRWestern blotting	33740991
MIRT524299	hsa-miR-142-3p	Immunocytochemistry (ICC)Immunohistochemistry (IHC)Luciferase reporter assayqRT-PCRWestern blotting	33643894
MIRT735887	hsa-miR-139-5p	Luciferase reporter assayWestern blottingMicroarrayImmunohistochemistry (IHC)ImmunofluorescenceChIP-seqqRT-PCRin vivo gain/loss-of-function experiments	32641995
MIRT735887	hsa-miR-139-5p	Luciferase reporter assayWestern blottingMicroarrayImmunohistochemistry (IHC)ImmunofluorescenceChIP-seqqRT-PCRin vivo gain/loss-of-function experiments	32641995
MIRT735887	hsa-miR-139-5p	Luciferase reporter assayWestern blottingMicroarrayImmunohistochemistry (IHC)ImmunofluorescenceChIP-seqqRT-PCRIn situ hybridization	32641995
MIRT736768	hsa-miR-496	Luciferase reporter assayWestern blottingImmunoprecipitaion (IP)ImmunofluorescenceqRT-PCRIn situ hybridization	32318572
MIRT524299	hsa-miR-142-3p	Luciferase reporter assayWestern blottingqRT-PCR	32983253
MIRT307297	hsa-miR-548l	HITS-CLIP	23313552
MIRT704447	hsa-miR-875-5p	HITS-CLIP	23313552
MIRT704446	hsa-miR-3973	HITS-CLIP	23313552
MIRT704445	hsa-miR-520g-3p	HITS-CLIP	23313552
MIRT704444	hsa-miR-520h	HITS-CLIP	23313552
MIRT704443	hsa-miR-3688-5p	HITS-CLIP	23313552
MIRT704442	hsa-miR-891a-3p	HITS-CLIP	23313552
MIRT704441	hsa-miR-3144-3p	HITS-CLIP	23313552
MIRT704440	hsa-miR-7108-5p	HITS-CLIP	23313552
MIRT704439	hsa-miR-4474-3p	HITS-CLIP	23313552
MIRT704438	hsa-miR-607	HITS-CLIP	23313552
MIRT704437	hsa-miR-2113	HITS-CLIP	23313552
MIRT704436	hsa-miR-5010-3p	HITS-CLIP	23313552
MIRT524299	hsa-miR-142-3p	PAR-CLIP	20371350
MIRT307327	hsa-miR-7849-3p	PAR-CLIP	20371350
MIRT091934	hsa-miR-5586-3p	PAR-CLIP	20371350
MIRT091935	hsa-miR-8062	PAR-CLIP	20371350
MIRT209910	hsa-miR-4255	PAR-CLIP	20371350
MIRT091932	hsa-miR-4765	PAR-CLIP	20371350
MIRT091926	hsa-miR-183-3p	PAR-CLIP	20371350
MIRT091931	hsa-miR-3591-5p	PAR-CLIP	20371350
MIRT524299	hsa-miR-142-3p	PAR-CLIP	20371350
MIRT091934	hsa-miR-5586-3p	PAR-CLIP	20371350
MIRT091935	hsa-miR-8062	PAR-CLIP	20371350
MIRT209910	hsa-miR-4255	PAR-CLIP	20371350
MIRT091932	hsa-miR-4765	PAR-CLIP	20371350
MIRT091926	hsa-miR-183-3p	PAR-CLIP	20371350
MIRT091931	hsa-miR-3591-5p	PAR-CLIP	20371350
MIRT524299	hsa-miR-142-3p	PAR-CLIP	23446348
MIRT091934	hsa-miR-5586-3p	PAR-CLIP	23446348
MIRT091935	hsa-miR-8062	PAR-CLIP	23446348
MIRT209910	hsa-miR-4255	PAR-CLIP	23446348
MIRT091932	hsa-miR-4765	PAR-CLIP	23446348
MIRT091931	hsa-miR-3591-5p	PAR-CLIP	23446348
MIRT755393	hsa-miR-181a-5p	Luciferase reporter assayqRT-PCRImmunofluorescence	35336965
MIRT756433	hsa-miR-146a-5p	qRT-PCR	36415628
MIRT914938	hsa-miR-1233	CLIP-seq
MIRT914939	hsa-miR-1324	CLIP-seq
MIRT914940	hsa-miR-1972	CLIP-seq
MIRT914941	hsa-miR-3129-3p	CLIP-seq
MIRT914942	hsa-miR-3619-3p	CLIP-seq
MIRT914943	hsa-miR-3682-5p	CLIP-seq
MIRT914944	hsa-miR-4251	CLIP-seq
MIRT914945	hsa-miR-4303	CLIP-seq
MIRT914946	hsa-miR-4329	CLIP-seq
MIRT914947	hsa-miR-4438	CLIP-seq
MIRT914948	hsa-miR-4453	CLIP-seq
MIRT914949	hsa-miR-4490	CLIP-seq
MIRT914950	hsa-miR-4496	CLIP-seq
MIRT914951	hsa-miR-4503	CLIP-seq
MIRT914952	hsa-miR-4535	CLIP-seq
MIRT914953	hsa-miR-4538	CLIP-seq
MIRT914954	hsa-miR-4687-5p	CLIP-seq
MIRT914955	hsa-miR-4690-3p	CLIP-seq
MIRT914956	hsa-miR-4705	CLIP-seq
MIRT914957	hsa-miR-4762-3p	CLIP-seq
MIRT914958	hsa-miR-4776-5p	CLIP-seq
MIRT914959	hsa-miR-5095	CLIP-seq
MIRT914960	hsa-miR-545	CLIP-seq
MIRT914961	hsa-miR-548an	CLIP-seq
MIRT914962	hsa-miR-548g	CLIP-seq
MIRT914963	hsa-miR-582-3p	CLIP-seq
MIRT914964	hsa-miR-618	CLIP-seq
MIRT914965	hsa-miR-624	CLIP-seq
MIRT914966	hsa-miR-634	CLIP-seq
MIRT914967	hsa-miR-127-5p	CLIP-seq
MIRT914968	hsa-miR-1276	CLIP-seq
MIRT914969	hsa-miR-141	CLIP-seq
MIRT914970	hsa-miR-200a	CLIP-seq
MIRT914971	hsa-miR-214	CLIP-seq
MIRT914972	hsa-miR-300	CLIP-seq
MIRT914973	hsa-miR-302f	CLIP-seq
MIRT914974	hsa-miR-3122	CLIP-seq
MIRT914975	hsa-miR-3137	CLIP-seq
MIRT914976	hsa-miR-3161	CLIP-seq
MIRT914977	hsa-miR-330-3p	CLIP-seq
MIRT914978	hsa-miR-3619-5p	CLIP-seq
MIRT914979	hsa-miR-381	CLIP-seq
MIRT914980	hsa-miR-3913-5p	CLIP-seq
MIRT914981	hsa-miR-3942-3p	CLIP-seq
MIRT914982	hsa-miR-4274	CLIP-seq
MIRT914983	hsa-miR-4282	CLIP-seq
MIRT914949	hsa-miR-4490	CLIP-seq
MIRT914984	hsa-miR-450b-3p	CLIP-seq
MIRT914985	hsa-miR-4519	CLIP-seq
MIRT914986	hsa-miR-4539	CLIP-seq
MIRT914987	hsa-miR-4635	CLIP-seq
MIRT914988	hsa-miR-4666-3p	CLIP-seq
MIRT914989	hsa-miR-4718	CLIP-seq
MIRT914990	hsa-miR-4731-3p	CLIP-seq
MIRT914991	hsa-miR-4753-3p	CLIP-seq
MIRT914992	hsa-miR-4768-5p	CLIP-seq
MIRT914993	hsa-miR-4789-5p	CLIP-seq
MIRT914994	hsa-miR-4796-5p	CLIP-seq
MIRT914995	hsa-miR-4801	CLIP-seq
MIRT914961	hsa-miR-548an	CLIP-seq
MIRT914962	hsa-miR-548g	CLIP-seq
MIRT914996	hsa-miR-548n	CLIP-seq
MIRT914997	hsa-miR-548t	CLIP-seq
MIRT914998	hsa-miR-561	CLIP-seq
MIRT914999	hsa-miR-578	CLIP-seq
MIRT915000	hsa-miR-581	CLIP-seq
MIRT914963	hsa-miR-582-3p	CLIP-seq
MIRT915001	hsa-miR-640	CLIP-seq
MIRT915002	hsa-miR-657	CLIP-seq
MIRT915003	hsa-miR-761	CLIP-seq
MIRT915004	hsa-miR-769-3p	CLIP-seq
MIRT915005	hsa-miR-888	CLIP-seq
MIRT914967	hsa-miR-127-5p	CLIP-seq
MIRT914969	hsa-miR-141	CLIP-seq
MIRT1971412	hsa-miR-150	CLIP-seq
MIRT914970	hsa-miR-200a	CLIP-seq
MIRT914971	hsa-miR-214	CLIP-seq
MIRT914973	hsa-miR-302f	CLIP-seq
MIRT914975	hsa-miR-3137	CLIP-seq
MIRT1971413	hsa-miR-3149	CLIP-seq
MIRT914977	hsa-miR-330-3p	CLIP-seq
MIRT914978	hsa-miR-3619-5p	CLIP-seq
MIRT914982	hsa-miR-4274	CLIP-seq
MIRT914985	hsa-miR-4519	CLIP-seq
MIRT914987	hsa-miR-4635	CLIP-seq
MIRT1971414	hsa-miR-4668-3p	CLIP-seq
MIRT914989	hsa-miR-4718	CLIP-seq
MIRT914991	hsa-miR-4753-3p	CLIP-seq
MIRT1971415	hsa-miR-483-3p	CLIP-seq
MIRT1971416	hsa-miR-526b	CLIP-seq
MIRT915000	hsa-miR-581	CLIP-seq
MIRT1971417	hsa-miR-627	CLIP-seq
MIRT915002	hsa-miR-657	CLIP-seq
MIRT1971418	hsa-miR-668	CLIP-seq
MIRT915003	hsa-miR-761	CLIP-seq
MIRT914938	hsa-miR-1233	CLIP-seq
MIRT914967	hsa-miR-127-5p	CLIP-seq
MIRT914939	hsa-miR-1324	CLIP-seq
MIRT914969	hsa-miR-141	CLIP-seq
MIRT914940	hsa-miR-1972	CLIP-seq
MIRT914970	hsa-miR-200a	CLIP-seq
MIRT914971	hsa-miR-214	CLIP-seq
MIRT914974	hsa-miR-3122	CLIP-seq
MIRT1971413	hsa-miR-3149	CLIP-seq
MIRT914977	hsa-miR-330-3p	CLIP-seq
MIRT2207001	hsa-miR-3591-3p	CLIP-seq
MIRT914978	hsa-miR-3619-5p	CLIP-seq
MIRT914980	hsa-miR-3913-5p	CLIP-seq
MIRT914981	hsa-miR-3942-3p	CLIP-seq
MIRT2207002	hsa-miR-412	CLIP-seq
MIRT914947	hsa-miR-4438	CLIP-seq
MIRT914949	hsa-miR-4490	CLIP-seq
MIRT2207003	hsa-miR-4509	CLIP-seq
MIRT914984	hsa-miR-450b-3p	CLIP-seq
MIRT914987	hsa-miR-4635	CLIP-seq
MIRT914954	hsa-miR-4687-5p	CLIP-seq
MIRT914955	hsa-miR-4690-3p	CLIP-seq
MIRT914956	hsa-miR-4705	CLIP-seq
MIRT914991	hsa-miR-4753-3p	CLIP-seq
MIRT914992	hsa-miR-4768-5p	CLIP-seq
MIRT914959	hsa-miR-5095	CLIP-seq
MIRT1971416	hsa-miR-526b	CLIP-seq
MIRT914960	hsa-miR-545	CLIP-seq
MIRT914961	hsa-miR-548an	CLIP-seq
MIRT914962	hsa-miR-548g	CLIP-seq
MIRT2207004	hsa-miR-550b	CLIP-seq
MIRT915000	hsa-miR-581	CLIP-seq
MIRT914963	hsa-miR-582-3p	CLIP-seq
MIRT914964	hsa-miR-618	CLIP-seq
MIRT1971417	hsa-miR-627	CLIP-seq
MIRT914966	hsa-miR-634	CLIP-seq
MIRT915002	hsa-miR-657	CLIP-seq
MIRT2207005	hsa-miR-660	CLIP-seq
MIRT915003	hsa-miR-761	CLIP-seq
MIRT915004	hsa-miR-769-3p	CLIP-seq
MIRT1971412	hsa-miR-150	CLIP-seq
MIRT914972	hsa-miR-300	CLIP-seq
MIRT914979	hsa-miR-381	CLIP-seq
MIRT914981	hsa-miR-3942-3p	CLIP-seq
MIRT2207002	hsa-miR-412	CLIP-seq
MIRT914988	hsa-miR-4666-3p	CLIP-seq
MIRT1971414	hsa-miR-4668-3p	CLIP-seq
MIRT914990	hsa-miR-4731-3p	CLIP-seq
MIRT914993	hsa-miR-4789-5p	CLIP-seq
MIRT914994	hsa-miR-4796-5p	CLIP-seq
MIRT914995	hsa-miR-4801	CLIP-seq
MIRT1971415	hsa-miR-483-3p	CLIP-seq
MIRT1971416	hsa-miR-526b	CLIP-seq
MIRT914999	hsa-miR-578	CLIP-seq
MIRT915000	hsa-miR-581	CLIP-seq
MIRT1971417	hsa-miR-627	CLIP-seq
MIRT915001	hsa-miR-640	CLIP-seq
MIRT1971418	hsa-miR-668	CLIP-seq
MIRT915000	hsa-miR-581	CLIP-seq
MIRT914944	hsa-miR-4251	CLIP-seq
MIRT914945	hsa-miR-4303	CLIP-seq
MIRT914946	hsa-miR-4329	CLIP-seq
MIRT914955	hsa-miR-4690-3p	CLIP-seq
MIRT914957	hsa-miR-4762-3p	CLIP-seq
MIRT914966	hsa-miR-634	CLIP-seq
MIRT914972	hsa-miR-300	CLIP-seq
MIRT2510204	hsa-miR-3121-3p	CLIP-seq
MIRT914941	hsa-miR-3129-3p	CLIP-seq
MIRT2207001	hsa-miR-3591-3p	CLIP-seq
MIRT2510205	hsa-miR-3613-3p	CLIP-seq
MIRT914942	hsa-miR-3619-3p	CLIP-seq
MIRT914979	hsa-miR-381	CLIP-seq
MIRT914950	hsa-miR-4496	CLIP-seq
MIRT914951	hsa-miR-4503	CLIP-seq
MIRT914952	hsa-miR-4535	CLIP-seq
MIRT914988	hsa-miR-4666-3p	CLIP-seq
MIRT914990	hsa-miR-4731-3p	CLIP-seq
MIRT2510206	hsa-miR-4733-5p	CLIP-seq
MIRT914958	hsa-miR-4776-5p	CLIP-seq
MIRT914993	hsa-miR-4789-5p	CLIP-seq
MIRT914994	hsa-miR-4796-5p	CLIP-seq
MIRT914995	hsa-miR-4801	CLIP-seq
MIRT2207004	hsa-miR-550b	CLIP-seq
MIRT2207005	hsa-miR-660	CLIP-seq
MIRT2510204	hsa-miR-3121-3p	CLIP-seq
MIRT914941	hsa-miR-3129-3p	CLIP-seq
MIRT2207001	hsa-miR-3591-3p	CLIP-seq
MIRT2510205	hsa-miR-3613-3p	CLIP-seq
MIRT914942	hsa-miR-3619-3p	CLIP-seq
MIRT914950	hsa-miR-4496	CLIP-seq
MIRT914951	hsa-miR-4503	CLIP-seq
MIRT914952	hsa-miR-4535	CLIP-seq
MIRT2510206	hsa-miR-4733-5p	CLIP-seq
MIRT914958	hsa-miR-4776-5p	CLIP-seq
MIRT914994	hsa-miR-4796-5p	CLIP-seq
MIRT2207004	hsa-miR-550b	CLIP-seq
MIRT2207005	hsa-miR-660	CLIP-seq

Show/Hide all (10)

Transcription factor	Regulation	Reference
AR	Activation	18535113
ESR1	Repression	16628468
LEF1	Unknown	11326276
NELFCD	Repression	20735431
NKX2-5	Unknown	19479054
SIRT1	Repression	22245592
SOX6	Repression	21084391
TCF7L2	Unknown	24317174
TP53	Repression	19411072
ZNF24	Activation	24224020

363

Show/Hide all (363)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IEA
GO:0000165	Process	MAPK cascade	IEA
GO:0000209	Process	Protein polyubiquitination	IDA	29374064
GO:0000578	Process	Embryonic axis specification	IEA
GO:0000791	Component	Euchromatin	IDA	22723415
GO:0000791	Component	Euchromatin	IEA
GO:0000902	Process	Cell morphogenesis	IEA
GO:0000922	Component	Spindle pole	IEA
GO:0001221	Function	Transcription coregulator binding	IEA
GO:0001221	Function	Transcription coregulator binding	ISS
GO:0001222	Function	Transcription corepressor binding	IPI	30097457
GO:0001501	Process	Skeletal system development	IEA
GO:0001569	Process	Branching involved in blood vessel morphogenesis	IEA
GO:0001570	Process	Vasculogenesis	IEA
GO:0001649	Process	Osteoblast differentiation	IEA
GO:0001649	Process	Osteoblast differentiation	IMP	24023731
GO:0001658	Process	Branching involved in ureteric bud morphogenesis	IEA
GO:0001701	Process	In utero embryonic development	IEA
GO:0001702	Process	Gastrulation with mouth forming second	IEA
GO:0001706	Process	Endoderm formation	IEA
GO:0001708	Process	Cell fate specification	IEA
GO:0001711	Process	Endodermal cell fate commitment	IEA
GO:0001764	Process	Neuron migration	IEA
GO:0001822	Process	Kidney development	IEA
GO:0001837	Process	Epithelial to mesenchymal transition	TAS	14679171
GO:0001840	Process	Neural plate development	IEA
GO:0001894	Process	Tissue homeostasis	IEA
GO:0001944	Process	Vasculature development	IEA
GO:0002052	Process	Positive regulation of neuroblast proliferation	IEA
GO:0002052	Process	Positive regulation of neuroblast proliferation	ISS
GO:0002053	Process	Positive regulation of mesenchymal cell proliferation	IEA
GO:0002062	Process	Chondrocyte differentiation	IEA
GO:0002089	Process	Lens morphogenesis in camera-type eye	IEA
GO:0003151	Process	Outflow tract morphogenesis	IEA
GO:0003151	Process	Outflow tract morphogenesis	ISS
GO:0003266	Process	Regulation of secondary heart field cardioblast proliferation	IEA
GO:0003338	Process	Metanephros morphogenesis	IEA
GO:0003340	Process	Negative regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis	IEA
GO:0003682	Function	Chromatin binding	IEA
GO:0003682	Function	Chromatin binding	ISS
GO:0003713	Function	Transcription coactivator activity	IBA
GO:0003713	Function	Transcription coactivator activity	IDA	9065402, 11751639, 12651860, 18193033, 22187462
GO:0003713	Function	Transcription coactivator activity	IEA
GO:0003713	Function	Transcription coactivator activity	IMP	12949260, 15905404
GO:0005102	Function	Signaling receptor binding	IPI	30683932
GO:0005515	Function	Protein binding	IPI	7890674, 8638126, 8663237, 9264463, 9601641, 9632714, 9707618, 10706604, 10725230, 10773885, 10825188, 10987273, 11401320, 11533658, 11590244, 11713475, 11713476, 11751639, 11790773, 11955446, 12297051, 12370829, 12408824, 12421363, 12734196, 12820959, 12927518, 14595118, 14600025, 1
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	9707618, 10980594, 15040835, 16858403, 18193033, 18756595, 18787224, 19095296, 19187541, 20123964, 28829046, 29367600, 29739711, 29910125
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005667	Component	Transcription regulator complex	IDA	11751639
GO:0005667	Component	Transcription regulator complex	IEA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	7806582, 9707618, 11793365, 12138115, 12937339, 12970740, 18787224, 19095296, 19591802, 22294297, 22467863, 29739711, 29910125
GO:0005737	Component	Cytoplasm	IEA
GO:0005813	Component	Centrosome	IDA	18086858, 20300119
GO:0005813	Component	Centrosome	IEA
GO:0005829	Component	Cytosol	IDA	10980594, 19187541, 20123964
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IEA
GO:0005886	Component	Plasma membrane	IDA	11790773, 12138115, 12970740
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0005911	Component	Cell-cell junction	IDA	19151727, 19996314
GO:0005911	Component	Cell-cell junction	IEA
GO:0005912	Component	Adherens junction	IBA
GO:0005912	Component	Adherens junction	IDA	10403777, 10725230, 18086858, 19101069, 20086044, 22855531
GO:0005912	Component	Adherens junction	IEA
GO:0005912	Component	Adherens junction	IMP	22294297
GO:0005916	Component	Fascia adherens	IEA
GO:0005923	Component	Bicellular tight junction	IEA
GO:0005925	Component	Focal adhesion	HDA	21423176
GO:0005929	Component	Cilium	IDA
GO:0005938	Component	Cell cortex	IDA	19038973
GO:0006351	Process	DNA-templated transcription	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IEA
GO:0006366	Process	Transcription by RNA polymerase II	IEA
GO:0007155	Process	Cell adhesion	IEA
GO:0007155	Process	Cell adhesion	IMP	19101069
GO:0007160	Process	Cell-matrix adhesion	IEA
GO:0007173	Process	Epidermal growth factor receptor signaling pathway	IDA	18356165
GO:0007268	Process	Chemical synaptic transmission	IEA
GO:0007398	Process	Ectoderm development	IEA
GO:0007399	Process	Nervous system development	IEA
GO:0007403	Process	Glial cell fate determination	IEA
GO:0007405	Process	Neuroblast proliferation	IEA
GO:0007507	Process	Heart development	IEA
GO:0008104	Process	Intracellular protein localization	IEA
GO:0008283	Process	Cell population proliferation	IEA
GO:0008284	Process	Positive regulation of cell population proliferation	IEA
GO:0008284	Process	Positive regulation of cell population proliferation	ISS
GO:0008285	Process	Negative regulation of cell population proliferation	IDA	12970740
GO:0008543	Process	Fibroblast growth factor receptor signaling pathway	IEA
GO:0009410	Process	Response to xenobiotic stimulus	IEP	18291362
GO:0009948	Process	Anterior/posterior axis specification	IEA
GO:0009950	Process	Dorsal/ventral axis specification	IEA
GO:0009953	Process	Dorsal/ventral pattern formation	IEA
GO:0009954	Process	Proximal/distal pattern formation	IEA
GO:0010463	Process	Mesenchymal cell proliferation	IEA
GO:0010467	Process	Gene expression	IEA
GO:0010468	Process	Regulation of gene expression	IEA
GO:0010628	Process	Positive regulation of gene expression	IEA
GO:0010629	Process	Negative regulation of gene expression	IEA
GO:0010717	Process	Regulation of epithelial to mesenchymal transition	IMP	29910125
GO:0010718	Process	Positive regulation of epithelial to mesenchymal transition	IGI	23983127
GO:0010718	Process	Positive regulation of epithelial to mesenchymal transition	IMP	17072303
GO:0010909	Process	Positive regulation of heparan sulfate proteoglycan biosynthetic process	IMP	15853773
GO:0014704	Component	Intercalated disc	IEA
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	ISS
GO:0016055	Process	Wnt signaling pathway	IEA
GO:0016323	Component	Basolateral plasma membrane	IDA	24862762
GO:0016323	Component	Basolateral plasma membrane	IEA
GO:0016327	Component	Apicolateral plasma membrane	IEA
GO:0016328	Component	Lateral plasma membrane	IDA	12072559, 22855531
GO:0016328	Component	Lateral plasma membrane	IEA
GO:0016331	Process	Morphogenesis of embryonic epithelium	IEA
GO:0016342	Component	Catenin complex	IBA
GO:0016342	Component	Catenin complex	IDA	7650039, 18593713, 20302655, 28051089
GO:0016342	Component	Catenin complex	IEA
GO:0016525	Process	Negative regulation of angiogenesis	IEA
GO:0016525	Process	Negative regulation of angiogenesis	ISS
GO:0016600	Component	Flotillin complex	IEA
GO:0016922	Function	Nuclear receptor binding	IBA
GO:0016922	Function	Nuclear receptor binding	IEA
GO:0016922	Function	Nuclear receptor binding	IPI	12799378
GO:0016922	Function	Nuclear receptor binding	TAS	16344550
GO:0019827	Process	Stem cell population maintenance	TAS	22723415
GO:0019899	Function	Enzyme binding	IEA
GO:0019899	Function	Enzyme binding	IPI	11533658, 18356165
GO:0019900	Function	Kinase binding	IPI	8638126
GO:0019901	Function	Protein kinase binding	IEA
GO:0019902	Function	Phosphatase binding	IPI	20123964
GO:0019903	Function	Protein phosphatase binding	IBA
GO:0019903	Function	Protein phosphatase binding	IEA
GO:0021819	Process	Layer formation in cerebral cortex	IEA
GO:0021854	Process	Hypothalamus development	IEA
GO:0022009	Process	Central nervous system vasculogenesis	IEA
GO:0022405	Process	Hair cycle process	IEA
GO:0030018	Component	Z disc	IEA
GO:0030027	Component	Lamellipodium	IEA
GO:0030054	Component	Cell junction	IDA	19038973, 20412773
GO:0030054	Component	Cell junction	TAS	17047063
GO:0030097	Process	Hemopoiesis	IEA
GO:0030154	Process	Cell differentiation	IEA
GO:0030182	Process	Neuron differentiation	IEA
GO:0030217	Process	T cell differentiation	IEA
GO:0030316	Process	Osteoclast differentiation	IEA
GO:0030324	Process	Lung development	IEA
GO:0030331	Function	Nuclear estrogen receptor binding	IPI	15304487
GO:0030539	Process	Male genitalia development	IEA
GO:0030855	Process	Epithelial cell differentiation	IEA
GO:0030856	Process	Regulation of epithelial cell differentiation	IEA
GO:0030858	Process	Positive regulation of epithelial cell differentiation	IEA
GO:0030877	Component	Beta-catenin destruction complex	IDA	8638126, 16188939, 18593713
GO:0030877	Component	Beta-catenin destruction complex	IEA
GO:0030900	Process	Forebrain development	IEA
GO:0030901	Process	Midbrain development	IEA
GO:0030902	Process	Hindbrain development	IEA
GO:0030997	Process	Regulation of centriole-centriole cohesion	IDA	18086858
GO:0031016	Process	Pancreas development	IEA
GO:0031069	Process	Hair follicle morphogenesis	IEA
GO:0031253	Component	Cell projection membrane	IEA
GO:0031396	Process	Regulation of protein ubiquitination	IMP	15829978
GO:0031528	Component	Microvillus membrane	IEA
GO:0031625	Function	Ubiquitin protein ligase binding	EXP	12820959
GO:0031641	Process	Regulation of myelination	IEA
GO:0032212	Process	Positive regulation of telomere maintenance via telomerase	IEA
GO:0032212	Process	Positive regulation of telomere maintenance via telomerase	ISS
GO:0032331	Process	Negative regulation of chondrocyte differentiation	IEA
GO:0032355	Process	Response to estradiol	IDA	15304487
GO:0032968	Process	Positive regulation of transcription elongation by RNA polymerase II	IEA
GO:0032991	Component	Protein-containing complex	IDA	22083958
GO:0032993	Component	Protein-DNA complex	IDA	10825188
GO:0033077	Process	T cell differentiation in thymus	IEA
GO:0033234	Process	Negative regulation of protein sumoylation	IDA	22155184
GO:0034112	Process	Positive regulation of homotypic cell-cell adhesion	IGI	20123964
GO:0034332	Process	Adherens junction organization	IEA
GO:0034333	Process	Adherens junction assembly	IMP	20086044, 20123964
GO:0034394	Process	Protein localization to cell surface	IMP	20086044
GO:0034750	Component	Scrib-APC-beta-catenin complex	IEA
GO:0035050	Process	Embryonic heart tube development	IEA
GO:0035112	Process	Genitalia morphogenesis	IEA
GO:0035115	Process	Embryonic forelimb morphogenesis	IEA
GO:0035116	Process	Embryonic hindlimb morphogenesis	IEA
GO:0035315	Process	Hair cell differentiation	TAS	19251162
GO:0035995	Process	Detection of muscle stretch	TAS	30568254
GO:0036023	Process	Embryonic skeletal limb joint morphogenesis	IEA
GO:0036023	Process	Embryonic skeletal limb joint morphogenesis	ISS
GO:0036064	Component	Ciliary basal body	IDA
GO:0036520	Process	Astrocyte-dopaminergic neuron signaling	IEA
GO:0042127	Process	Regulation of cell population proliferation	IEA
GO:0042129	Process	Regulation of T cell proliferation	IEA
GO:0042475	Process	Odontogenesis of dentin-containing tooth	IEA
GO:0042733	Process	Embryonic digit morphogenesis	IEA
GO:0042734	Component	Presynaptic membrane	IEA
GO:0042981	Process	Regulation of apoptotic process	IEA
GO:0042995	Component	Cell projection	IEA
GO:0043065	Process	Positive regulation of apoptotic process	IDA	12651860, 12970740
GO:0043066	Process	Negative regulation of apoptotic process	IMP	12154096
GO:0043066	Process	Negative regulation of apoptotic process	TAS	23164821
GO:0043161	Process	Proteasome-mediated ubiquitin-dependent protein catabolic process	IDA	29374064
GO:0043296	Component	Apical junction complex	IEA
GO:0043410	Process	Positive regulation of MAPK cascade	IEA
GO:0043524	Process	Negative regulation of neuron apoptotic process	IEA
GO:0043525	Process	Positive regulation of neuron apoptotic process	IDA	19591802
GO:0043588	Process	Skin development	IEA
GO:0044325	Function	Transmembrane transporter binding	IPI	19996314
GO:0044331	Process	Cell-cell adhesion mediated by cadherin	IMP	18593713
GO:0044338	Process	Canonical Wnt signaling pathway involved in mesenchymal stem cell differentiation	IEA
GO:0045177	Component	Apical part of cell	IEA
GO:0045202	Component	Synapse	IEA
GO:0045202	Component	Synapse	ISS
GO:0045211	Component	Postsynaptic membrane	IEA
GO:0045294	Function	Alpha-catenin binding	IBA
GO:0045294	Function	Alpha-catenin binding	IEA
GO:0045294	Function	Alpha-catenin binding	IPI	7650039, 7890674, 23136403
GO:0045296	Function	Cadherin binding	HDA	25468996
GO:0045296	Function	Cadherin binding	IBA
GO:0045296	Function	Cadherin binding	IEA
GO:0045296	Function	Cadherin binding	IPI	18287330, 18593713
GO:0045453	Process	Bone resorption	IEA
GO:0045595	Process	Regulation of cell differentiation	IEA
GO:0045596	Process	Negative regulation of cell differentiation	IEA
GO:0045597	Process	Positive regulation of cell differentiation	NAS	24847765
GO:0045603	Process	Positive regulation of endothelial cell differentiation	IEA
GO:0045667	Process	Regulation of osteoblast differentiation	IEA
GO:0045669	Process	Positive regulation of osteoblast differentiation	IEA
GO:0045670	Process	Regulation of osteoclast differentiation	IEA
GO:0045671	Process	Negative regulation of osteoclast differentiation	IEA
GO:0045743	Process	Positive regulation of fibroblast growth factor receptor signaling pathway	IEA
GO:0045765	Process	Regulation of angiogenesis	TAS	18756595
GO:0045766	Process	Positive regulation of angiogenesis	IEA
GO:0045892	Process	Negative regulation of DNA-templated transcription	IEA
GO:0045892	Process	Negative regulation of DNA-templated transcription	IMP	19653274
GO:0045893	Process	Positive regulation of DNA-templated transcription	IDA	12970740, 18787224
GO:0045893	Process	Positive regulation of DNA-templated transcription	IEA
GO:0045893	Process	Positive regulation of DNA-templated transcription	IMP	12949260
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IBA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	9065402, 11751639, 12651860, 14660579, 18193033
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IMP	15592430, 19328798
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	ISS
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	TAS	24115276, 24431302
GO:0045976	Process	Negative regulation of mitotic cell cycle, embryonic	IEA
GO:0045976	Process	Negative regulation of mitotic cell cycle, embryonic	ISS
GO:0046332	Function	SMAD binding	IPI	18593713
GO:0048145	Process	Regulation of fibroblast proliferation	TAS	16858403
GO:0048469	Process	Cell maturation	IEA
GO:0048471	Component	Perinuclear region of cytoplasm	IDA	19038973
GO:0048489	Process	Synaptic vesicle transport	IEA
GO:0048513	Process	Animal organ development	IEA
GO:0048538	Process	Thymus development	IEA
GO:0048568	Process	Embryonic organ development	IEA
GO:0048599	Process	Oocyte development	IEA
GO:0048617	Process	Embryonic foregut morphogenesis	IEA
GO:0048643	Process	Positive regulation of skeletal muscle tissue development	IEA
GO:0048660	Process	Regulation of smooth muscle cell proliferation	IMP	17122440
GO:0048664	Process	Neuron fate determination	IEA
GO:0048709	Process	Oligodendrocyte differentiation	IEA
GO:0048715	Process	Negative regulation of oligodendrocyte differentiation	IEA
GO:0050767	Process	Regulation of neurogenesis	NAS	23377854
GO:0050767	Process	Regulation of neurogenesis	TAS	24431302
GO:0050768	Process	Negative regulation of neurogenesis	IEA
GO:0050808	Process	Synapse organization	IEA
GO:0050982	Process	Detection of mechanical stimulus	IEA
GO:0051145	Process	Smooth muscle cell differentiation	IEA
GO:0051450	Process	Myoblast proliferation	IEA
GO:0051884	Process	Regulation of timing of anagen	IEA
GO:0051963	Process	Regulation of synapse assembly	IEA
GO:0060066	Process	Oviduct development	IEA
GO:0060070	Process	Canonical Wnt signaling pathway	IBA
GO:0060070	Process	Canonical Wnt signaling pathway	IDA	10644691, 11751639, 12937339, 19187541
GO:0060070	Process	Canonical Wnt signaling pathway	IEA
GO:0060070	Process	Canonical Wnt signaling pathway	IGI	27846906
GO:0060070	Process	Canonical Wnt signaling pathway	IMP	12154096, 17072303, 18193033, 24023731
GO:0060070	Process	Canonical Wnt signaling pathway	ISS
GO:0060070	Process	Canonical Wnt signaling pathway	TAS	23164821
GO:0060173	Process	Limb development	IEA
GO:0060231	Process	Mesenchymal to epithelial transition	IMP	29910125
GO:0060439	Process	Trachea morphogenesis	IEA
GO:0060440	Process	Trachea formation	IEA
GO:0060441	Process	Epithelial tube branching involved in lung morphogenesis	IEA
GO:0060479	Process	Lung cell differentiation	IEA
GO:0060484	Process	Lung-associated mesenchyme development	IEA
GO:0060487	Process	Lung epithelial cell differentiation	IEA
GO:0060492	Process	Lung induction	IEA
GO:0060742	Process	Epithelial cell differentiation involved in prostate gland development	IEA
GO:0060767	Process	Epithelial cell proliferation involved in prostate gland development	IEA
GO:0060769	Process	Positive regulation of epithelial cell proliferation involved in prostate gland development	IEA
GO:0060789	Process	Hair follicle placode formation	IEA
GO:0060856	Process	Establishment of blood-brain barrier	IEA
GO:0060916	Process	Mesenchymal cell proliferation involved in lung development	IEA
GO:0061047	Process	Positive regulation of branching involved in lung morphogenesis	IEA
GO:0061154	Process	Endothelial tube morphogenesis	IMP	20123964
GO:0061198	Process	Fungiform papilla formation	IEA
GO:0061549	Process	Sympathetic ganglion development	IEA
GO:0061549	Process	Sympathetic ganglion development	ISS
GO:0061550	Process	Cranial ganglion development	IEA
GO:0061629	Function	RNA polymerase II-specific DNA-binding transcription factor binding	IDA	12651860, 18193033, 18579517
GO:0061629	Function	RNA polymerase II-specific DNA-binding transcription factor binding	IEA
GO:0061629	Function	RNA polymerase II-specific DNA-binding transcription factor binding	IPI	15905404, 18936100, 19443654
GO:0070062	Component	Extracellular exosome	HDA	19199708
GO:0070161	Component	Anchoring junction	IEA
GO:0070369	Component	Beta-catenin-TCF7L2 complex	IDA	9065401, 9065402, 12651860
GO:0070411	Function	I-SMAD binding	IPI	18593713
GO:0070602	Process	Regulation of centromeric sister chromatid cohesion	IEA
GO:0070602	Process	Regulation of centromeric sister chromatid cohesion	IMP	20300119
GO:0071363	Process	Cellular response to growth factor stimulus	IMP	16858403
GO:0071664	Component	Catenin-TCF7L2 complex	IEA
GO:0071681	Process	Cellular response to indole-3-methanol	IDA	10868478
GO:0071681	Process	Cellular response to indole-3-methanol	IEA
GO:0071944	Component	Cell periphery	IDA	19038973
GO:0072033	Process	Renal vesicle formation	IEA
GO:0072053	Process	Renal inner medulla development	IEA
GO:0072054	Process	Renal outer medulla development	IEA
GO:0072079	Process	Nephron tubule formation	IEA
GO:0072089	Process	Stem cell proliferation	IEA
GO:0072182	Process	Regulation of nephron tubule epithelial cell differentiation	IEA
GO:0072182	Process	Regulation of nephron tubule epithelial cell differentiation	ISS
GO:0072497	Process	Mesenchymal stem cell differentiation	IEA
GO:0072497	Process	Mesenchymal stem cell differentiation	IMP	24023731
GO:0090090	Process	Negative regulation of canonical Wnt signaling pathway	IEA
GO:0090279	Process	Regulation of calcium ion import	IDA	19996314
GO:0090425	Process	Acinar cell differentiation	IEA
GO:0090575	Component	RNA polymerase II transcription regulator complex	IEA
GO:0097091	Process	Synaptic vesicle clustering	IEA
GO:0097190	Process	Apoptotic signaling pathway	IEA
GO:0097718	Function	Disordered domain specific binding	IEA
GO:0098609	Process	Cell-cell adhesion	IBA
GO:0098609	Process	Cell-cell adhesion	IEA
GO:0098685	Component	Schaffer collateral - CA1 synapse	IEA
GO:0098831	Component	Presynaptic active zone cytoplasmic component	IEA
GO:0098978	Component	Glutamatergic synapse	IEA
GO:0099092	Component	Postsynaptic density, intracellular component	IEA
GO:0140297	Function	DNA-binding transcription factor binding	IEA
GO:0140297	Function	DNA-binding transcription factor binding	IPI	20123964
GO:0140297	Function	DNA-binding transcription factor binding	ISS
GO:1901331	Process	Positive regulation of odontoblast differentiation	IEA
GO:1903377	Process	Negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway	IEA
GO:1904888	Process	Cranial skeletal system development	IEA
GO:1904948	Process	Midbrain dopaminergic neuron differentiation	IEA
GO:1904948	Process	Midbrain dopaminergic neuron differentiation	ISS
GO:1905555	Process	Positive regulation of blood vessel branching	IMP	20123964
GO:1990138	Process	Neuron projection extension	IMP	19830702
GO:1990226	Function	Histone methyltransferase binding	IEA
GO:1990226	Function	Histone methyltransferase binding	ISS
GO:1990403	Process	Embryonic brain development	IEA
GO:1990711	Component	Beta-catenin-ICAT complex	IEA
GO:1990791	Process	Dorsal root ganglion development	IEA
GO:1990907	Component	Beta-catenin-TCF complex	IDA	28296634
GO:1990907	Component	Beta-catenin-TCF complex	IEA
GO:1990907	Component	Beta-catenin-TCF complex	IPI	11955446, 18936100, 20123964
GO:1990909	Component	Wnt signalosome	IEA
GO:1990909	Component	Wnt signalosome	NAS	24115276
GO:1990963	Process	Establishment of blood-retinal barrier	IEA
GO:2000008	Process	Regulation of protein localization to cell surface	IDA	19996314
GO:2000017	Process	Positive regulation of determination of dorsal identity	IEA
GO:2000179	Process	Positive regulation of neural precursor cell proliferation	IEA
GO:2000288	Process	Positive regulation of myoblast proliferation	IEA
GO:2000648	Process	Positive regulation of stem cell proliferation	IEA
GO:2001234	Process	Negative regulation of apoptotic signaling pathway	IEA

MIM	HGNC	e!Ensembl
116806	2514	ENSG00000168036

P35222

Protein name

Catenin beta-1 (Beta-catenin)

Protein function

Key downstream component of the canonical Wnt signaling pathway (PubMed:17524503, PubMed:18077326, PubMed:18086858, PubMed:18957423, PubMed:21262353, PubMed:22155184, PubMed:22647378, PubMed:22699938). In the absence of Wnt, forms a complex with

PDB

1G3J , 1JDH , 1JPW , 1LUJ , 1P22 , 1QZ7 , 1T08 , 1TH1 , 2G57 , 2GL7 , 2Z6H , 3DIW , 3FQN , 3FQR , 3SL9 , 3SLA , 3TX7 , 4DJS , 6M90 , 6M91 , 6M92 , 6M93 , 6M94 , 6O9B , 6O9C , 6WLX , 6WNX , 7AFW , 7AR4 , 7UWI , 7UWO , 7ZRB , 8EI9 , 8EIA , 8EIB , 8EIC , 8RU3 , 8RU4 , 8VME , 8VMF , 8Y0G , 8Y0P , 8Y14 , 8Z0U , 8Z10 , 8Z5J , 8Z61

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00514	Arm	224 → 263	Armadillo/beta-catenin-like repeat	Repeat
PF00514	Arm	350 → 390	Armadillo/beta-catenin-like repeat	Repeat
PF00514	Arm	431 → 473	Armadillo/beta-catenin-like repeat	Repeat
PF00514	Arm	583 → 623	Armadillo/beta-catenin-like repeat	Repeat

Tissue specificity

TISSUE SPECIFICITY: Expressed in several hair follicle cell types: basal and peripheral matrix cells, and cells of the outer and inner root sheaths. Expressed in colon. Present in cortical neurons (at protein level). Expressed in breast cancer tissues (at

Sequence

MATQADLMELDMAMEPDRKAAVSHWQQQSYLDSGIHSGATTTAPSLSGKGNPEEEDVDTS
QVLYEWEQGFSQSFTQEQVADIDGQYAMTRAQRVRAAMFPETLDEGMQIPSTQFDAAHPT
NVQRLAEPSQMLKHAVVNLINYQDDAELATRAIPELTKLLNDEDQVVVNKAAVMVHQLSK
KEASRHAIMRSPQMVSAIVRTMQNTNDVETARCTAGTLHNLSHHREGLLAIFKSGGIPAL
VKMLGSPVDSVLFYAITTLHNLLLHQEGAKMAVRLAGGLQKMVALLNKTNVKFLAITTDC
LQILAYGNQESKLIILASGGPQALVNIMRTYTYEKLLWTTSRVLKVLSVCSSNKPAIVEA
GGMQALGLHLTDPSQRLVQNCLWTLRNLSDAATKQEGMEGLLGTLVQLLGSDDINVVTCA
AGILSNLTCNNYKNKMMVCQVGGIEALVRTVLRAGDREDITEPAICALRHLTSRHQEAEM
AQNAVRLHYGLPVVVKLLHPPSHWPLIKATVGLIRNLALCPANHAPLREQGAIPRLVQLL
VRAHQDTQRRTSMGGTQQQFVEGVRMEEIVEGCTGALHILARDVHNRIVIRGLNTIPLFV
QLLYSPIENIQRVAAGVLCELAQDKEAAEAIEAEGATAPLTELLHSRNEGVATYAAAVLF
RMSEDKPQDYKKRLSVELTSSLFRTEPMAWNETADLGLDIGAQGEPLGYRQDDPSYRSFH
SGGYGQDALGMDPMMEHEMGGHHPGADYPVDGLPDLGHAQDLMDGLPPGDSNQLAWFDTD
L

Sequence length

781

Interactions

View interactions

	KEGG		Reactome
	Rap1 signaling pathway Wnt signaling pathway Hippo signaling pathway Focal adhesion Adherens junction Signaling pathways regulating pluripotency of stem cells Leukocyte transendothelial migration Melanogenesis Thyroid hormone signaling pathway Cushing syndrome Alcoholic liver disease Alzheimer disease Pathways of neurodegeneration - multiple diseases Bacterial invasion of epithelial cells Salmonella infection Hepatitis C Human cytomegalovirus infection Human papillomavirus infection Kaposi sarcoma-associated herpesvirus infection Pathways in cancer Proteoglycans in cancer Colorectal cancer Endometrial cancer Prostate cancer Thyroid cancer Basal cell carcinoma Breast cancer Hepatocellular carcinoma Gastric cancer Arrhythmogenic right ventricular cardiomyopathy Fluid shear stress and atherosclerosis		Degradation of beta-catenin by the destruction complex Beta-catenin phosphorylation cascade TCF dependent signaling in response to WNT Formation of the beta-catenin:TCF transactivating complex LRR FLII-interacting protein 1 (LRRFIP1) activates type I IFN production Apoptotic cleavage of cell adhesion proteins Deactivation of the beta-catenin transactivating complex Synthesis, secretion, and inactivation of Glucagon-like Peptide-1 (GLP-1) Ca2+ pathway Adherens junctions interactions Binding of TCF/LEF:CTNNB1 to target gene promoters Disassembly of the destruction complex and recruitment of AXIN to the membrane VEGFR2 mediated vascular permeability Myogenesis Misspliced GSK3beta mutants stabilize beta-catenin S33 mutants of beta-catenin aren't phosphorylated S37 mutants of beta-catenin aren't phosphorylated S45 mutants of beta-catenin aren't phosphorylated T41 mutants of beta-catenin aren't phosphorylated RHO GTPases activate IQGAPs Transcriptional Regulation by VENTX InlA-mediated entry of Listeria monocytogenes into host cells RUNX3 regulates WNT signaling

377

Show/Hide Causal Diseases (54)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Abnormal lung growth, pulmonary hypertension, microcephaly, and spasticity	Pathogenic	rs886039332	RCV000984346
Abnormality of the nervous system	Likely pathogenic	rs2125645060	RCV001814516
Absent speech	Likely pathogenic	rs1553632357	RCV000626747
Adamantinous craniopharyngioma	Pathogenic; Likely pathogenic	rs121913400, rs121913396, rs121913403, rs121913412, rs28931588, rs28931589, rs121913413, rs121913399	RCV006253629 RCV006253632 RCV006253636 RCV006253641 RCV006253645 RCV006253647 RCV006253652 RCV006253654 RCV006253657 RCV006253662 RCV006253987 RCV006253992
Adrenal cortex carcinoma	Pathogenic; Likely pathogenic	rs587776850, rs121913412	RCV006253627 RCV006253639
Adrenal cortex neoplasm	Pathogenic	rs121913400	RCV004808527
Atypical endometrial hyperplasia	Likely pathogenic	rs121913412	RCV003327294
Autosomal dominant polycystic liver disease	Likely pathogenic	rs2078513943	RCV001844881
Calcifying nested epithelial stromal tumor of the liver	Likely pathogenic	rs121913412	RCV006253643
Carcinoma of colon	Pathogenic	rs587776850, rs121913400	RCV000019137 RCV000019138
Colorectal cancer	Pathogenic; Likely pathogenic	rs2078201673, rs2125623951, rs28931589, rs2078362331	RCV002246440 RCV002249849 RCV006252603 RCV001253306
Conspicuously happy disposition	Pathogenic	rs2078133150	RCV001849805
CTNNB1-related disorder	Likely pathogenic; Pathogenic	rs797044875, rs775104326, rs886041281, rs1559477241, rs2125646355, rs758207378, rs2470787406, rs2470790178, rs2470857399, rs748294403	RCV004745260 RCV003417867 RCV003417873 RCV003416754 RCV003406134 RCV003402881 RCV003406094 RCV003402772 RCV004546847 RCV004545777
CTNNB1-related syndromic intellectual disability	Likely pathogenic	rs2078356915	RCV001095731
Desmoid disease, hereditary	Likely pathogenic	rs121913413	RCV004562216
Desmoid tumor	Likely pathogenic; Pathogenic	rs121913412, rs121913409, rs121913407	RCV003447477 RCV006253666 RCV006253669
Desmoid tumor caused by somatic mutation	Likely pathogenic	rs121913412	RCV000019143
Developmental disorder	Pathogenic	rs1553631860	RCV003126902
Embryonal rhabdomyosarcoma	Pathogenic; Likely pathogenic	rs587776850, rs121913412, rs121913413, rs121913409, rs121913407	RCV006253628 RCV006253640 RCV006253660 RCV006253665 RCV006253668
Embryonal tumor with multilayered rosettes	Likely pathogenic; Pathogenic	rs121913403, rs121913400, rs121913413, rs121913409	RCV006253635 RCV006253651 RCV006253656 RCV006253661 RCV006253667
Exudative vitreoretinopathy 1	Pathogenic	rs1057519379, rs1057519380	RCV000416683 RCV000416893
Exudative vitreoretinopathy 7	Pathogenic; Likely pathogenic	rs2078435023, rs1057519380, rs886039332, rs1553631770	RCV001330863 RCV000495836 RCV001335878 RCV001283821
Gallbladder cancer	Pathogenic	rs121913409	RCV001374445
Glioma	Pathogenic	rs121913409	RCV006253664
Global developmental delay	Likely pathogenic; Pathogenic	rs748294403, rs1553632357	RCV002463684 RCV000626747
Hepatoblastoma	Likely pathogenic; Pathogenic	rs121913412, rs28931588, rs28931589, rs121913413	RCV000019142 RCV000019144 RCV000019146 RCV006253659
Hepatocellular carcinoma	Pathogenic; Likely pathogenic	rs121913409, rs121913407, rs778624338, rs1553631896, rs1575320216, rs1575330336	RCV000019153 RCV000019154 RCV000987258 RCV000987260 RCV000987259 RCV000987261
Imperforate anus	Likely pathogenic	rs1553632357	RCV000626747
Intellectual disability	Pathogenic; Likely pathogenic	rs886039332, rs1064796453, rs1553631860, rs1575333081, rs2078151677, rs2078196892	RCV001260751 RCV005625632 RCV001260750 RCV000851507 RCV001260752 RCV001260749
Juvenile nasopharyngeal angiofibroma	Pathogenic	rs28931588	RCV002221234
Malignant tumor of urinary bladder	Pathogenic	rs121913400, rs121913399	RCV003332083 RCV003332169
Medulloblastoma	Pathogenic	rs28931588, rs121913400, rs28931589	RCV000437074 RCV000019148 RCV000443977
Medulloblastoma non-WNT/non-SHH	Likely pathogenic	rs121913412	RCV006253642
Medulloblastoma non-WNT/non-SHH group 3	Pathogenic	rs28931588	RCV006253986
Medulloblastoma WNT activated	Likely pathogenic; Pathogenic	rs121913396, rs121913403, rs28931588, rs121913400, rs28931589	RCV006253630 RCV006253634 RCV006253644 RCV006253650 RCV006253653 RCV006253655
Microcephalic primordial dwarfism, Alazami type	Pathogenic	rs1553631860	RCV002286777
Microcephaly	Likely pathogenic	rs1553632357	RCV000626747
Neoplasm	Pathogenic; Likely pathogenic	rs587776850, rs121913412, rs28931588, rs121913400, rs121913403, rs121913409, rs121913407	RCV004668736 RCV005229818 RCV004668737 RCV005229819 RCV006273062 RCV005229820 RCV004668738
Nephroblastoma	Pathogenic	rs587776850, rs121913409	RCV000505566 RCV000505673
Neurodevelopmental delay	Pathogenic	rs2125640691	RCV002274330
Neurodevelopmental disorder	Pathogenic	rs1553631860	RCV001374918
Nonpapillary renal cell carcinoma	Pathogenic	rs2125619553	RCV005925385
Ovarian neoplasm	Likely pathogenic; Pathogenic	rs121913403	RCV000019141
Pilomatrixoma	Pathogenic; Likely pathogenic	rs121913400, rs121913396, rs121913403, rs28931588, rs28931589, rs121913413	RCV000019139 RCV000019140 RCV000030945 RCV000128842 RCV000019147 RCV000019149 RCV000019151 RCV000019152
Prostate cancer	Likely pathogenic	rs28931589	RCV000149120
Rhabdomyosarcoma	Pathogenic	rs121913400	RCV006253649
See cases	Likely pathogenic	rs2125623412	RCV001420336
serous cystadenoma/endometrioid carcinoma	Likely pathogenic; Pathogenic	rs121913403	RCV006253637
Sertoli cell tumor	Likely pathogenic; Pathogenic	rs121913396	RCV006253633
Sertoli-Leydig cell tumor	Likely pathogenic; Pathogenic	rs121913396	RCV006253631
Severe intellectual disability-progressive spastic diplegia syndrome	Likely pathogenic; Pathogenic	rs2125623360, rs2125623075, rs2125644627, rs2078436466, rs2125617859, rs2125637461, rs878960699, rs1212452748, rs2078362215, rs2125647138, rs2125622579, rs2125619523, rs2125617589, rs587777412, rs2125638080 View all (61 more)	RCV005057352 RCV001788510 RCV001528147 RCV001766048 RCV001775250 RCV001775293 RCV001775340 RCV001775373 RCV001775399 RCV001775420 RCV001800251 RCV001808987 RCV001843753 RCV000119827 RCV002251085 RCV002272973 RCV002287867 RCV002290219 RCV002291361 RCV002310599 RCV002472213 RCV002472288 RCV004784067 RCV002512429 RCV002470806 RCV003314046 RCV000199502 RCV000495846 RCV003148236 RCV003153211 RCV000234865 RCV003223479 RCV003226727 RCV000415150 RCV000495849 RCV000985149 RCV001265460 RCV003147435 RCV003230970 RCV003236503 RCV003328078 RCV003397188 RCV003985117 RCV003405190 RCV003484460 RCV003494069 RCV004594706 RCV003991723 RCV003991990 RCV004594738 RCV001253207 RCV000851495 RCV000495837 RCV000500221 RCV000678281 RCV000032858 RCV000032859 RCV000032860 RCV001265236 RCV000677414 RCV000677408 RCV000678968 RCV000679960 RCV000681631 RCV000735215 RCV000735236 RCV000824816 RCV004796335 RCV000995750 RCV000995751 RCV001265237 RCV001169957 RCV001195546 RCV001253425 RCV001258339 RCV003336365
Solid pseudopapillary neoplasm of the pancreas	Likely pathogenic; Pathogenic	rs121913403, rs28931589, rs121913413, rs28931588, rs121913399	RCV006253638 RCV006253648 RCV006253658 RCV006253663 RCV006253988 RCV006253993
Synovial sarcoma	Likely pathogenic	rs28931589	RCV006253646
Teratoma	Likely pathogenic	rs1553632357	RCV000626747

Show/Hide Unknown Diseases (22)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Benign	rs2293302	RCV005909743
Cervical cancer	Benign	rs2293302	RCV005909747
Cholangiocarcinoma	Benign	rs2293302, rs3774369	RCV005909756 RCV005922949
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Benign	rs2293302	RCV005909759
Craniopharyngioma	other	rs121913400	RCV006253989
Familial cancer of breast	Benign; Likely benign	rs2276826	RCV005927895
Familial pancreatic carcinoma	Benign	rs2293302	RCV005909750
Gastric cancer	Benign; Likely benign	rs2293302, rs3774369, rs2276826	RCV005909752 RCV005922947 RCV005927898
Increased bone mineral density	Uncertain significance	rs2125624604	RCV003985140
Juvenile type testicular granulosa cell tumor	other	rs121913400	RCV006253991
Lung cancer	Benign	rs2293302	RCV005909757
Lymphoma	Benign	rs2293302	RCV005909753
Malignant tumor of esophagus	Benign; Likely benign	rs2293302, rs2276826	RCV005909745 RCV005927897
Ovarian cancer	Benign	rs2293302	RCV005909748
Ovarian serous cystadenocarcinoma	Benign; Likely benign; Uncertain significance	rs2293302, rs2276826, rs2078482400	RCV005909754 RCV005927899 RCV005909305
Papillary renal cell carcinoma type 1	other	rs1553631848	RCV000505598
Sarcoma	Benign	rs2293302	RCV005909751
Thymoma	Benign	rs2293302	RCV005909755
Thyroid cancer, nonmedullary, 1	Uncertain significance; Benign; Likely benign	rs2078134906, rs2276826	RCV005925693 RCV005927900
Uterine carcinosarcoma	Benign	rs3774369	RCV005922948
Uterine corpus endometrial carcinoma	Benign; Likely benign	rs2293302, rs2276826	RCV005909758 RCV005927901
Uveal melanoma	Benign	rs2293302	RCV005909749

Show/Hide Text Mining Associations (779)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Abdominal Neoplasms	Associate	33213169
Abdominal Pain	Associate	37358854
Aberrant Crypt Foci	Stimulate	38554332
Abortion Habitual	Associate	30806528
Abortion Spontaneous	Associate	30806528
Accidental Injuries	Associate	16367920
Achalasia Addisonianism Alacrimia syndrome	Associate	28527916
Acth Independent Macronodular Adrenal Hyperplasia	Associate	21252250
ACTH Secreting Pituitary Adenoma	Associate	33287648, 34534321, 34852451, 35928898
Acute Disease	Stimulate	18711353
Acute Disease	Associate	32362107
Acute Kidney Injury	Associate	29131245, 35239776
Adenocarcinoma	Associate	10789716, 11021815, 12439911, 14710233, 14752418, 15452164, 16479254, 16948518, 17143261, 19653727, 20447711, 20682711, 20855955, 21574102, 23686669 View all (35 more)
Adenocarcinoma Bronchiolo Alveolar	Associate	12707032
Adenocarcinoma Mucinous	Associate	10391090, 12439911, 19448592, 26894286, 33451982, 37347751
Adenocarcinoma of Lung	Associate	18399550, 22016777, 22975805, 23702845, 24498085, 26268703, 26860078, 27896272, 28077118, 28746919, 29311567, 29525983, 30841451, 31235588, 31386689 View all (18 more)
Adenocarcinoma of Lung	Stimulate	26416062, 34764821
Adenoma	Inhibit	11238046
Adenoma	Associate	11707154, 12117880, 12740349, 14710233, 15972967, 16496320, 17143260, 17641414, 18419788, 18541010, 18992165, 19173296, 19448592, 19745699, 20196079 View all (32 more)
Adenoma	Stimulate	14645698, 27563825, 34148984
Adenoma Liver Cell	Associate	16496320, 20393147, 23084586, 24743216, 26205181, 26961851, 27469330, 27939373, 28323122, 29256857, 29687774, 30052636, 30218633, 30306412, 31570768, 34148984, 37169258 View all (2 more)
Adenoma Liver Cell	Stimulate	25071913
Adenoma Pleomorphic	Associate	16648762, 21553343, 25076852, 33077317
Adenomatous Polyposis Coli	Associate	10027390, 10924409, 11092973, 11226285, 11437403, 11437404, 11572874, 11696422, 11707154, 11707392, 11752446, 11940574, 12057910, 12117880, 12771132 View all (59 more)
Adenomatous Polyposis Coli	Inhibit	10318916, 10514384, 10607566, 10702403, 11263497, 11402061, 16705313, 18076571, 20043299, 21279955, 24240237, 29304823, 31540078, 32076059, 35617032, 9601641 View all (1 more)
Adenomatous Polyposis Coli	Stimulate	14970870, 28731177
Adenomatous Polyps	Associate	11238048, 17278192, 9176391
Adrenal Cortex Neoplasms	Associate	26515592, 29371329, 32522271, 33716050
Adrenal Gland Neoplasms	Associate	37129912
Adrenocortical Adenoma	Associate	18419788, 34489873, 34863285
Adrenocortical Carcinoma	Associate	22427816, 22496620, 24755523, 25078331, 25490274, 26515592, 27468715, 27589897, 27705928, 29283884, 29872083, 31561992, 31725643, 32522271, 32875319 View all (9 more)
Adrenoleukodystrophy	Associate	23437103
Aicardi Syndrome	Associate	26011570
Airway Obstruction	Associate	28883453
Alopecia	Associate	19141591, 27472703, 32412314, 35862273, 36813838
Alzheimer Disease	Associate	16306047, 20515496, 32035419, 36480537, 38069323
Ameloblastoma	Associate	14578169, 28390135, 28658279, 29388014, 32985799, 35840721
Amyotrophic Lateral Sclerosis	Associate	35750046, 36653804
Amyotrophic lateral sclerosis 1	Associate	36736597
Anemia	Associate	37358854
Anemia Aplastic	Associate	34821370
Anemia Sickle Cell	Associate	28277286
Angelman Syndrome	Associate	30257870
Angina Stable	Associate	24390670, 24788118
Angiofibroma	Associate	11238055, 14567719, 26572152
Anodontia	Associate	30910249, 33115416
Anophthalmia with pulmonary hypoplasia	Associate	25747895, 36171592, 39358545
Antley Bixler Syndrome Phenotype	Associate	26515592
Aortic Aneurysm Abdominal	Associate	35096137
Aortic Aneurysm Thoracic	Stimulate	37894814
Aortic Valve Calcification of	Associate	35109802
Aplasia of Lacrimal and Salivary Glands	Associate	19893038
Apraxias	Associate	26968164
Arrhythmogenic Right Ventricular Dysplasia	Associate	32046637, 32768677, 33670616, 37595583
Arthritis Juvenile	Associate	24782191
Arthritis Rheumatoid	Associate	31178673, 31854447, 33145365, 33463122, 34854396, 36596012
Ascites	Associate	26658453
Asthma	Associate	35000533
Astigmatism	Associate	33350591
Astrocytoma	Associate	20182836, 22806482, 22919349, 23328978, 26654598
Atherosclerosis	Associate	18703780
Atresia of small intestine	Associate	11788563, 16501564
Atrial Fibrillation	Associate	30760287, 31545578, 35510412
Atrophy	Associate	21719789
Attenuated familial adenomatous polyposis	Associate	10924409
Autism Spectrum Disorder	Associate	27378147, 28575650, 31551593
Autistic Disorder	Associate	22495309, 23160955, 28559284, 32619517, 39395167
Autoimmune polyendocrinopathy syndrome type 1	Associate	27767239
Bacterial Infections	Inhibit	37285354
Barrett Esophagus	Associate	26297437, 30144514, 30841855, 34818353
Basal cell carcinoma infundibulocystic	Associate	23071867
Basaloid Follicular Hamartoma Syndrome Generalized Autosomal Dominant	Associate	35972041
Behcet Syndrome	Associate	32811806
Beta ketothiolase deficiency	Stimulate	21049553
Bicuspid Aortic Valve Disease	Associate	29426841
Bile Duct Diseases	Associate	36480093
Bile Duct Neoplasms	Associate	31231124
Biliary Atresia	Associate	34392560
Biliary Fistula	Associate	34997170
Biliary Tract Neoplasms	Associate	24594839, 35121803, 37341068
Bipolar Disorder	Associate	25041379, 29507296, 33398088
Bipolar Disorder	Stimulate	30280518
Birt Hogg Dube Syndrome	Associate	40677928
Blast Crisis	Associate	32517078
Blast Injuries	Associate	21669058
Blue cone monochromatism	Stimulate	35349735
Bone Diseases	Associate	16007344, 17900349, 20843343, 23281130, 25999350, 29158412, 29301038, 35184390, 35487243
Bone Diseases Metabolic	Associate	26332075
Bone Neoplasms	Associate	35454175
Bone Neoplasms	Stimulate	35676319
Bowen's Disease	Stimulate	14633602
Brain Diseases	Associate	20515496
Brain Edema	Associate	36402441
Brain Neoplasms	Associate	17905526, 21196339, 24933634, 25970776, 27613837, 29753700, 34986841, 36435833, 37920971
Breast Carcinoma In Situ	Associate	11322170, 22080244, 23837653
Breast Neoplasms	Associate	10759547, 11328805, 12398896, 12439718, 12750294, 12907143, 15082903, 15139049, 16003740, 17050667, 17897439, 18059161, 18059186, 18271926, 18283316 View all (172 more)
Breast Neoplasms	Stimulate	21665913
Bronchiolitis Obliterans Syndrome	Associate	19893038, 33758171
Bronchopulmonary Dysplasia	Associate	27941077
Brugada Syndrome	Associate	37226398, 37679791
Bursitis	Associate	34304709
Calcifying Epithelial Odontogenic Tumor	Associate	28658279, 33994539
Calcinosis	Associate	22874762, 24788418, 33713163, 36009051, 36281932
Calcinosis Cutis	Inhibit	12888830
Calcinosis Cutis	Associate	15316903, 16740029, 19244247, 19461076, 21574102, 22053859, 24317053, 24358122, 26400846, 28054945, 32099096, 34257613
Cap Myopathy	Associate	19233958, 23475579
Capillary Malformation Arteriovenous Malformation	Associate	35613831
Carcinogenesis	Associate	10595907, 10817505, 11021815, 11161379, 11226285, 11570580, 11792709, 11893906, 11920497, 11953860, 12378619, 12398896, 12402302, 12466115, 12466281 View all (153 more)
Carcinoid Tumor	Associate	15712207, 17320529, 22825745, 25413006, 29327707
Carcinoma	Associate	11238046, 24511551, 32784485
Carcinoma Acinar Cell	Associate	11891193, 11943721, 19720778, 26245749
Carcinoma Adenoid Cystic	Associate	12368205, 15195113, 32650834, 39780157
Carcinoma Basal Cell	Associate	12707032, 14633602, 23284750, 24398989, 33972406
Carcinoma Basal Cell	Stimulate	26503156, 36961748
Carcinoma Ductal	Associate	19751508, 21935866, 30760857, 32758244
Carcinoma Ductal Breast	Associate	19751508, 19789364, 21935866
Carcinoma Embryonal	Associate	31417131
Carcinoma Endometrioid	Associate	10391090, 10433945, 16461565, 18607832, 23295859, 23765252, 25214561, 25624430, 26431491, 28174789, 29795437, 30315273, 30782821, 33811207, 34420090 View all (4 more)
Carcinoma Hepatocellular	Associate	10487827, 10595907, 10665646, 10980116, 11570580, 11752456, 11819825, 12200448, 12460462, 12692418, 12799639, 15832407, 16124056, 16496320, 17275129 View all (280 more)
Carcinoma Hepatocellular	Stimulate	23463346, 30218633, 31878795, 34469466, 37494555
Carcinoma in Situ	Associate	21935866, 23837653
Carcinoma Intraductal Noninfiltrating	Associate	21935866
Carcinoma Large Cell	Associate	15712207
Carcinoma Lobular	Associate	23782331
Carcinoma Merkel Cell	Associate	19396152
Carcinoma Neuroendocrine	Associate	19396152
Carcinoma Non Small Cell Lung	Associate	10070329, 11328840, 11857309, 11882822, 12414510, 19609729, 21336184, 22721621, 22872573, 23042269, 23580348, 23648139, 24040438, 24454854, 24895061 View all (68 more)
Carcinoma Non Small Cell Lung	Stimulate	22528942
Carcinoma Non Small Cell Lung	Inhibit	25396757
Carcinoma Ovarian Epithelial	Associate	11531253, 16461565, 23605324, 24499657, 24816687, 26175151, 28332316, 28535511, 31337688, 32156068, 32681294, 33760208, 33804458, 34413913, 34590923 View all (4 more)
Carcinoma Pancreatic Ductal	Associate	20529828, 22925330, 25799022, 26224368, 26240024, 27411302, 29386088, 32149084, 35673567, 36171592, 40274200
Carcinoma Papillary	Associate	11092973, 17873895, 30616515
Carcinoma Renal Cell	Associate	15330191, 16983094, 17873895, 19349352, 20074327, 20514858, 23094073, 23708097, 23975733, 24504440, 24914205, 25313256, 25658088, 25757764, 27589897 View all (27 more)
Carcinoma Signet Ring Cell	Associate	16948518, 26509912
Carcinoma Small Cell	Associate	25413006
Carcinoma Squamous Cell	Associate	11271788, 12086851, 12707032, 14633602, 14752418, 15806138, 18455580, 18671846, 22526207, 22721621, 23778524, 23826417, 23999979, 24282295, 24715170 View all (19 more)
Carcinoma Transitional Cell	Associate	18751438, 26192362
Carcinoma Verrucous	Associate	21206167
Carcinosarcoma	Associate	19389926, 30194005, 32209061, 32623745
Cardiomyopathies	Associate	29207102
Cardiomyopathy Dilated	Associate	17719840, 33407844
Cardiovascular Abnormalities	Associate	36555252
Cardiovascular Diseases	Associate	25919636
Cartilage Diseases	Associate	28259981, 31366320, 32650720, 39940775, 40243895
Celiac Disease	Associate	28664941
Cell Transformation Neoplastic	Associate	12200448, 21303971, 23592547, 25301365, 28902356, 36209503, 38005222
Cell Transformation Neoplastic	Stimulate	33994850
Central Nervous System Cysts	Associate	37530890
Central Nervous System Neoplasms	Associate	17905526
Cerebral Palsy	Associate	33350591, 36083290
Char syndrome	Associate	33000225
Chediak Higashi Syndrome	Associate	26478006
Chemical and Drug Induced Liver Injury	Associate	29106686, 36076262, 36569862, 37358854
Chlamydia Infections	Associate	34568091
Cholangiocarcinoma	Associate	16311342, 22664794, 24549785, 24816558, 24889489, 25632187, 26056085, 26310932, 26501139, 29408647, 33436545, 33468537, 34181351, 34509526, 34799729 View all (10 more)
Cholangitis Sclerosing	Associate	34997170
Cholecystitis	Inhibit	16309224
Cholestasis	Associate	21615622
Chondrosarcoma	Associate	25144498, 25262277, 26888362, 29484408, 31180539
Chondrosarcoma	Stimulate	35676319
Chordoma	Associate	11729215, 24983247, 26888362
Choreoathetosis Hypothyroidism And Neonatal Respiratory Distress	Associate	24209998
Choriocarcinoma	Associate	16467170, 30958882
Choristoma	Associate	33442732
Choristoma	Stimulate	35327987
Chromosomal Instability	Stimulate	16815967
Chromosomal Instability	Associate	35349735
Chromosome 1q21.1 Deletion Syndrome 1.35 Mb	Associate	26222673, 39963032
Chronic Disease	Associate	34220309
Chronic Kidney Disease Mineral and Bone Disorder	Associate	19095956, 25919636, 28493902, 31102786
Chronic Kidney Disease Mineral and Bone Disorder	Stimulate	28343144
Classical Lissencephalies and Subcortical Band Heterotopias	Associate	28380362
Clear cell metastatic renal cell carcinoma	Associate	34257613
Cleft Lip	Associate	24442519
Cleft Palate	Stimulate	31419083
Clubfoot	Associate	19169765
Cognition Disorders	Associate	36229517
Colitis	Associate	33300557, 37477088
Colitis Ulcerative	Associate	11920497, 24118792, 24379584
Colitis Ulcerative	Stimulate	23967107
Colonic Diseases	Associate	21205744, 27406052, 27462886, 29482503
Colonic Neoplasms	Associate	10699468, 11021815, 11470825, 11572874, 11696421, 11752446, 11857309, 12057910, 14645698, 15492751, 15795286, 16501564, 16570344, 16815967, 17210682 View all (22 more)
Colonic Polyps	Associate	27406052, 9176391
Colonic Polyps	Stimulate	31781302
Colorectal Neoplasms	Associate	10318916, 10347231, 10362114, 10507776, 10514384, 10607566, 10646887, 10737795, 10817505, 10896949, 11470825, 11526241, 11707154, 11752446, 11920497 View all (520 more)
Colorectal Neoplasms	Stimulate	18219106, 21577209, 23573286, 24622886
Colorectal Neoplasms Hereditary Nonpolyposis	Associate	11733361, 23760948, 24415879, 28548127, 29371329, 32102509, 32376735, 33115416, 34003820
Congenital Abnormalities	Associate	17219201, 33084842
Congenital Hereditary and Neonatal Diseases and Abnormalities	Associate	19169765
Congenital myasthenic syndrome ib	Associate	33721619, 39768127
Contracture	Associate	19169765
Corneal Endothelial Cell Loss	Associate	30272329
Coronary Artery Disease	Associate	38139440, 38581999
Coronary Disease	Associate	38139440
COVID 19	Associate	36229517, 39301288
Coxa Magna	Associate	35538460, 37076124
Craniofacial Abnormalities	Associate	38296633
Craniopharyngioma	Associate	12466115, 14578169, 18540944, 21761366, 22086512, 23344868, 24413733, 25412847, 26198262, 26927026, 28486603, 28709442, 29509940, 30616515, 30919136 View all (4 more)
Crohn Disease	Associate	22393312, 23967107, 31729323
Crohn Disease	Inhibit	36444838
Cushing Syndrome	Associate	18419788, 34489873
Cystadenoma Serous	Associate	22158988
Cystic Fibrosis	Associate	31664087
Cysts	Associate	20616171, 26253305, 36810626
Cytokine Release Syndrome	Associate	34220309
Cytomegalovirus Infections	Associate	23071438
Deafness Autosomal Dominant 1	Associate	16803534
Death	Associate	19915524, 35750046
Death	Inhibit	27411302
Dementia	Associate	35327643
Dermatitis	Associate	27769064
Desmoid disease hereditary	Associate	11796830, 15054469, 15542524, 15913427, 17090192, 18587328, 18832571, 22766794, 23035734, 23913621, 23960186, 24390670, 24788118, 26171757, 26686699 View all (20 more)
Desmoid Tumors	Associate	39881334
Developmental Defects of Enamel	Associate	27218469
Developmental Disabilities	Associate	26968164, 27915094, 28867142, 33264726, 33350591, 36083290, 37895192, 38225558, 38364504, 39951836
Diabetes Gestational	Associate	32434530, 37608294
Diabetes Mellitus	Associate	25811776, 27411103, 27838104, 29135090, 29749571, 37246239, 37728820
Diabetes Mellitus Type 1	Associate	34697343
Diabetes Mellitus Type 2	Associate	19732438, 26083111, 27484798, 30212457, 38096208
Diabetic Angiopathies	Associate	24227537
Diabetic Foot	Associate	34483150
Diabetic Nephropathies	Associate	26697505, 31957842
Diarrhea 5 With Tufting Enteropathy Congenital	Associate	26241451, 26537717
Diastrophic dysplasia	Associate	16942611
Digestive System Diseases	Associate	34105295
Disease	Associate	10749862, 24788118, 28088268, 36229517
Disease	Inhibit	11533074
Disease	Stimulate	17888028
Disease Progression	Associate	24390670, 24788118
Disorders of Sex Development	Associate	26573569
DNA Repair Deficiency Disorders	Associate	32376735
Drug Related Side Effects and Adverse Reactions	Associate	21126356, 24926961, 25068516, 25590830, 25643607, 25733818, 27769064, 29515000, 34389725
Duane Retraction Syndrome	Associate	27049492
Duodenitis	Associate	15623495, 32770675
Dupuytren Contracture	Associate	16942611, 18958538, 20676061
Dyskinesias	Associate	26241451, 34564680
Dysplastic Nevus Syndrome	Associate	29731265
Dystonia	Associate	36153650
Dystonic Disorders	Associate	17962810, 28418912
Dystonic Disorders	Stimulate	18711353
Ectodermal Dysplasia	Associate	11891193, 24143938, 27468715, 27589897, 32875319, 35563746, 38296633
Ectrodactyly Ectodermal Dysplasia And Cleft Lip Palate Syndrome 1	Associate	22653804, 30782821, 36695555
Edema	Associate	20574529
Embolism	Associate	28126478
Embolism Fat	Associate	30046100
Encephalitis Tick Borne	Associate	34083737
Endocrine Gland Neoplasms	Associate	16731593
Endocrine System Diseases	Associate	27196739, 32875319
Endometrial Hyperplasia	Associate	11161379, 19329935, 24289604, 25144715, 30782821
Endometrial Neoplasms	Associate	10076565, 11161379, 12015762, 12497652, 12708483, 15111320, 15361208, 15736420, 15806138, 16803534, 17219201, 17504383, 18431720, 18607832, 19056846 View all (44 more)
Endometrial Neoplasms	Inhibit	26367784
Endometrial Stromal Tumors	Associate	18376386, 19898427, 30610106, 32982173, 37584555
Endometriosis	Associate	19898423, 24661731, 29462326, 29630856, 30428062, 31560827, 32667746, 33305626, 33817715, 35012617, 35327987, 36991319, 37867352
Eosinophilic Esophagitis	Associate	35239721
Ependymoma	Associate	19536879
Epstein Barr Virus Infections	Associate	17663505, 22723903
Esophageal and Gastric Varices	Associate	36264285
Esophageal Neoplasms	Associate	14752418, 17309796, 17552014, 19448414, 20236666, 20868558, 22246236, 22938416, 24022664, 24073846, 25888911, 26647768, 26722596, 26738870, 27600761 View all (16 more)
Esophageal Squamous Cell Carcinoma	Associate	12532436, 15484291, 17309796, 17552014, 18455580, 19448414, 20193114, 20491588, 20603606, 21049553, 21525190, 22870241, 25217103, 25375090, 26045816 View all (30 more)
Esophagitis	Associate	22870241
Essential Hypertension	Associate	32392180
Esthesioneuroblastoma Olfactory	Associate	29324814
Exanthema	Associate	37358854
Exfoliation Syndrome	Associate	24143938
Exocrine Pancreatic Insufficiency	Associate	26240024
Exostoses	Stimulate	35676319
Eye Abnormalities	Associate	33350591
Familial cylindromatosis	Associate	14633602
Familial Exudative Vitreoretinopathies	Associate	20159112, 27316669, 28211206, 28575650, 32420371, 33350591, 33655927, 35417085, 36153650, 36790797, 37089697, 37252707, 40011896
Familial Primary Pulmonary Hypertension	Associate	27188753
Fanconi Anemia	Associate	24469828
Fasciitis	Associate	18587328, 27713418, 31827231
Fatty Liver	Associate	27907035
Fatty Liver Alcoholic	Associate	33992698
Fetal Alcohol Spectrum Disorders	Associate	26340334, 29198828
Fetal Growth Retardation	Associate	36524356
Fibrocartilaginous embolism	Associate	31343104, 31481088, 32016951
Fibrocystic Breast Disease	Associate	33382535
Fibrolamellar hepatocellular carcinoma	Associate	36000549
Fibroma	Associate	20693983, 23027341, 37252415
Fibromatosis Abdominal	Associate	20197769
Fibromatosis Aggressive	Associate	10655994, 11437409, 15375433, 16007344, 18832571, 21931686, 23960186, 24390670, 25074465, 25174682, 26171757, 26686699, 27062580, 27565718, 27713418 View all (24 more)
Fibrosis	Associate	21816937, 22328118, 22475572, 24040439, 24465439, 26517016, 26697505, 26797284, 27586205, 28578904, 29131245, 29749571, 33214068, 35312232, 37629065
Fibrosis	Stimulate	34469466
Fibrous Dysplasia of Bone	Associate	29158412, 37108778
Fibrous Dysplasia of Bone	Stimulate	35454175
Focal Cortical Dysplasia	Associate	40055364
Focal Nodular Hyperplasia	Associate	18466996
Fractures Bone	Associate	28547961, 33357212
Fractures Spontaneous	Associate	28547961
Frontonasal dysplasia	Associate	38296633
Frontotemporal Dementia	Stimulate	36578035
Frontotemporal Dementia	Associate	38110419
Gallbladder Neoplasms	Associate	16309224, 23319036, 24739824, 26715268, 32839463, 34362903, 35900539, 36656209
Gardner Syndrome	Associate	34725446, 35613831
Gastritis	Inhibit	24528029
Gastritis	Associate	25967717
Gastritis Atrophic	Inhibit	24528029
Gastro enteropancreatic neuroendocrine tumor	Associate	26684240, 30033597
Gastroesophageal Reflux	Associate	14970870, 24481601
Gastrointestinal Neoplasms	Associate	11238048, 21447180, 25333257, 33130557
Gastrointestinal Stromal Tumors	Associate	33048845
Gaucher Disease	Associate	29198828, 29301038
Gaucher like disease	Associate	18466996
Genetic Diseases Inborn	Associate	29156563, 30807699, 38364504
Giant Cell Tumor of Bone	Associate	28547961, 35927428
Giant Cell Tumors	Stimulate	35676319
Glaucoma	Associate	39337505
Glioblastoma	Associate	18242184, 21321483, 23295773, 23319157, 23761169, 23776187, 23826359, 25197356, 25349993, 26108996, 26271668, 26473829, 26654598, 27345717, 28086236 View all (26 more)
Glioma	Associate	21321483, 22093097, 23696788, 23761169, 24083766, 24740456, 24913705, 25007077, 25345514, 26108996, 26317904, 26397053, 26473829, 26654598, 26708597 View all (55 more)
Glioma	Inhibit	29463646
Glomerulonephritis	Associate	28578904
Glomerulonephritis IGA	Associate	20485333, 27730700, 32791747
Glucose Intolerance	Associate	27411103
Glucose Metabolism Disorders	Associate	29749571
Glucosephosphate Dehydrogenase Deficiency	Associate	26366417
Goiter Multinodular 2	Associate	19101982
Granulosa cell tumor of the ovary	Associate	30390643
Growth Disorders	Associate	31309540
Growth Hormone Secreting Pituitary Adenoma	Associate	31432167
HAIR AN syndrome	Associate	23543667
Hamartoma	Associate	25690258
Hamartoma Syndrome Multiple	Associate	22520842, 32875319
Haspeslagh Fryns Muelenaere syndrome	Associate	21179427
Head and Neck Neoplasms	Associate	16648762, 23730900, 25524937, 31833149, 37445628
Hearing Loss Unilateral	Associate	40302475
Heart Defects Congenital	Associate	33084842
Heart Diseases	Stimulate	10749862
Helicobacter Infections	Stimulate	24528029
Hemangioma	Associate	35815421
Hemangiopericytoma	Associate	25431235, 25482924, 27325236
Hematologic Neoplasms	Associate	17949810, 21318952
Hemimegalencephaly	Associate	16196383
Hemorrhage	Associate	27939373
Hepatitis Alcoholic	Associate	36882021
Hepatitis B	Associate	27276713, 30111572
Hepatitis B Chronic	Stimulate	30268125
Hepatitis C	Associate	10595907
Hepatitis C Chronic	Associate	27276713
Hepatoblastoma	Associate	10934159, 12466281, 12649343, 17962810, 21992464, 25695679, 26715116, 27910913, 28277286, 28851352, 28923827, 32189106, 32240714, 33125945, 33651649 View all (7 more)
Hepatorenal form of glycogen storage disease	Associate	20447711
Hereditary Angioedema Type III	Inhibit	17852416
Hereditary Breast and Ovarian Cancer Syndrome	Associate	11437404, 12398896, 23890219, 38195458
Hereditary Breast and Ovarian Cancer Syndrome	Stimulate	22392736
Hernia Inguinal	Associate	31910207
Hip Fractures	Associate	34946961
Histiocytoma Benign Fibrous	Associate	17473941
Histiocytoma Malignant Fibrous	Associate	10189891, 12204056
HIV Infections	Associate	23152614, 35891449, 37981694
Holt Oram syndrome	Associate	34494093
Homozygous 11p15 p14 Deletion Syndrome	Associate	29058986
Hydatidiform Mole	Inhibit	16467170
Hydatidiform Mole	Associate	16565489
Hyperaldosteronism	Associate	26252618, 26397949, 26815163, 28102204, 28405879, 30085035, 31000732, 33287648, 34385710, 40302475
Hyperekplexia	Associate	26968164
Hyperexplexia hereditary	Associate	26968164
Hyperglycemic Hyperosmolar Nonketotic Coma	Associate	33847472
Hypermethioninemia	Associate	38003292
Hyperopia	Associate	33350591
Hyperparathyroidism 2	Associate	35454175
Hyperparathyroidism Primary	Associate	18541010, 27760455
Hyperplasia	Associate	24913829, 35410639
Hypersensitivity Delayed	Associate	33084842
Hypersensitivity Immediate	Associate	37328769
Hypertension	Associate	28102204, 28416583
Hypertension Pulmonary	Associate	31309540
Hypertrophy	Associate	22513174, 26123554, 35946454
Hypotrichosis	Associate	34545858
Hypoxia	Stimulate	20336693, 24301659, 24423919, 27656836, 27941077, 32216582, 36093941
Hypoxia	Inhibit	21466614, 25347326, 27036044, 27093376
Hypoxia	Associate	21906872, 26965643, 28126478, 29207102, 29348564, 32426814, 32481626, 32608501, 34484235, 37394639, 37943631, 37967992, 38010845, 38626328
Hypoxia Brain	Associate	24036252, 24042437, 25347326, 30864710, 31410187
Hypoxia Brain	Stimulate	24347249, 24423919, 31562861, 38626328
Ichthyosis Bullosa of Siemens	Associate	34859100
Ichthyosis X Linked	Associate	22120905
Idiopathic Noncirrhotic Portal Hypertension	Associate	32806748
Idiopathic Pulmonary Fibrosis	Associate	12707032, 20061390, 20650998, 22642910, 26545977, 26997628, 27586205, 32362107
Idiopathic Pulmonary Fibrosis	Stimulate	18478089
Immune System Diseases	Associate	35349735
Impotence Vasculogenic	Associate	32035486
Infarction Anterior Cerebral Artery	Associate	27468715
Infections	Associate	19091460, 21881052, 37092550
Infections	Inhibit	23071438
Infertility	Associate	30806528
Inflammation	Associate	14563838, 16407243, 16496320, 22156527, 22520842, 23226522, 23935909, 24040439, 24549785, 24961358, 25360740, 26205181, 27175588, 28059551, 28112190 View all (22 more)
Inflammation	Inhibit	27417573, 33387144, 35085379
Inflammatory Bowel Diseases	Associate	10700430, 20208143, 30186819
Inflammatory Bowel Diseases	Stimulate	18711353
Inflammatory Breast Neoplasms	Associate	25928084
Intellectual Disability	Associate	26340334, 26968164, 27915094, 28575650, 30929091, 38364504
Intervertebral Disc Degeneration	Associate	28332316, 31481088, 32016951, 33090383, 34015763, 35960109, 36746221, 37031322
Intestinal Diseases	Inhibit	16080494
Intestinal Diseases	Associate	32669593
Intestinal Neoplasms	Associate	10604738, 18455124, 24516707
Irritable Bowel Syndrome	Stimulate	30186819
Irritable Bowel Syndrome	Associate	33843785
Joint Diseases	Associate	25811776
Keratoacanthoma	Associate	36051475
Keratoconus	Associate	33288782
Keratosis Actinic	Associate	38527980
Kidney Diseases	Associate	20381006, 21816937, 24040439, 24465439, 26697505, 28578904, 37108249
Kidney Diseases Cystic	Associate	23001567
Kidney Failure Chronic	Associate	23337059
Kidney Neoplasms	Associate	22180573, 25757764, 29633893, 29991691, 31486486, 33846795, 34974812, 35147974
Kidney Tubular Necrosis Acute	Associate	29131245
Kimura Disease	Associate	36480093
Klatskin Tumor	Associate	26972709
Language Development Disorders	Associate	26968164, 30929091, 36790797
Laryngeal Neoplasms	Associate	24833089, 28122350
Lead Poisoning Nervous System	Stimulate	18438861
Leiomyoma	Associate	22768200, 24534281, 26820714, 29348564, 30458994, 31761932, 32892998, 33036796, 34614511, 35118811, 39519092
Leiomyosarcoma	Associate	23334251
Lesch Nyhan Syndrome	Associate	21305049, 34464028
Leukemia	Associate	12130512, 15306667, 19101069, 20797387, 20835687, 21669058, 22207684, 22858986, 23519466, 23707389, 24086728, 24339928, 25248926, 25622682, 26147002 View all (5 more)
Leukemia B Cell	Associate	22672427
Leukemia Biphenotypic Acute	Associate	17156404, 37542030
Leukemia Lymphocytic Chronic B Cell	Associate	14973184, 19745069, 20011538, 22235315, 24778153, 27086035, 27835591, 29945498, 38139452
Leukemia Lymphoma Adult T Cell	Associate	33562071, 35041720
Leukemia Mast Cell	Associate	17949810
Leukemia Myelogenous Chronic BCR ABL Positive	Stimulate	15257703
Leukemia Myelogenous Chronic BCR ABL Positive	Associate	15306667, 15380509, 17318191, 19837975, 21906872, 22240607, 22823957, 23519466, 23707389, 24339928, 26147002, 26202934, 26716419, 32225105, 32563150, 37350410 View all (1 more)
Leukemia Myeloid	Associate	12130512, 18483256, 30630973
Leukemia Myeloid Acute	Associate	19127593, 20795789, 21669058, 22706399, 22858986, 24498085, 25622682, 26592252, 27248172, 28361855, 28445932, 30556883, 30630973, 31167387, 31173171 View all (14 more)
Leukemia Prolymphocytic T Cell	Associate	22672427, 27651098
Leukemia T Cell	Associate	36520954
Leukemic Infiltration	Associate	21935866
Leukoencephalopathies	Associate	35325079
Leukoplakia Oral	Associate	17922924, 26537717
Lichen Planus Oral	Associate	39327577
Limb girdle muscular dystrophy type 2A	Associate	19015733
Liposarcoma	Associate	12204056, 22300273
Liver Cirrhosis	Stimulate	30268125
Liver Cirrhosis	Associate	30326962
Liver Diseases	Associate	30268125, 32317078
Liver Failure	Associate	34235224, 35338348
Liver Neoplasms	Associate	12466281, 16124056, 23822752, 26571119, 28284560, 32148378, 38285876
Liver Neoplasms	Inhibit	27881216
Lung Diseases	Associate	18219106, 25413006, 31309540, 32457348, 33300106
Lung Injury	Associate	36069235
Lung Neoplasms	Associate	19154401, 19609729, 22276175, 22806826, 24454854, 24498333, 24933634, 26416062, 26823848, 27014877, 27642589, 28259951, 28849055, 28883453, 29141249 View all (45 more)
Lupus Erythematosus Systemic	Associate	37108249
Lupus Nephritis	Stimulate	24465439
Lupus Nephritis	Associate	31298388
Lymphatic Diseases	Associate	33761659
Lymphatic Metastasis	Inhibit	10070329, 24197976, 9484818
Lymphatic Metastasis	Associate	12439911, 12888830, 15316903, 15712207, 17278192, 18461655, 20491588, 20529814, 21574102, 22528942, 23238650, 23661344, 23767917, 24187464, 24415879 View all (16 more)
Lymphatic Metastasis	Stimulate	14645698
Lymphedema	Associate	30947262
Lymphoma	Associate	15195109, 31210316, 32597418
Lymphoma B Cell	Associate	15195109, 19091460
Lymphoma Large B Cell Diffuse	Associate	26776161, 31237044, 33054136, 34565287, 34743203, 35713434, 38250157, 39261532
Lymphoma Large Cell Anaplastic	Associate	20971814, 29609590
Lymphoma Mantle Cell	Associate	18787224, 22485149, 26048374, 26227550, 27430213
Lymphoma Non Hodgkin	Associate	11927008, 21263251, 25169533, 30593147
Lymphoma Primary Effusion	Stimulate	12829841
Lymphoma Primary Effusion	Associate	19608668
Lymphoma T Cell	Associate	12824925, 16479254, 37106379
Lymphoma T Cell	Stimulate	22528942
Lymphoma T Cell Cutaneous	Associate	15195109, 20559121
Lymphoma T Cell Peripheral	Associate	12707037
Macular Degeneration	Associate	26246285, 35714567
Magnesium Deficiency	Inhibit	33210606
Malignant mesenchymal tumor	Associate	15375433, 34440820
Malignant Teratocarcinosarcoma	Associate	27137987, 29736797, 34106411, 34667073
Mandibulofacial Dysostosis	Associate	34106411
Marfan Syndrome	Associate	37894814
MASS syndrome	Associate	32385140
Mast Cell Activation Disorders	Associate	31683769
Maturity Onset Diabetes of the Young Type 3	Associate	20393147
Medulloblastoma	Associate	10666372, 15446583, 15508347, 19293793, 20921458, 21358093, 22820256, 22832583, 23094051, 23135025, 23525311, 24791927, 25054898, 25229241, 26290144 View all (14 more)
Melanoma	Associate	10027390, 10621837, 10699468, 14633602, 15987741, 16116595, 16371504, 18563180, 21577209, 21829575, 22234612, 22536370, 22685558, 22895053, 23462101 View all (39 more)
Melanoma	Stimulate	31338875
Melanoma	Inhibit	35563300
Melanoma Cutaneous Malignant	Associate	29664013, 32483240, 33204327
Meningioma	Associate	19703993, 20574529, 25864108, 27292269, 30849635
Mental Disorders	Associate	23211630, 36153650
Mesothelioma	Associate	11070089, 11437403
Mesothelioma Malignant	Associate	22135721, 25364818
Metabolic Diseases	Associate	21521850, 23442321, 32811441
Metabolic Syndrome	Associate	26797284, 40243895
Microcephaly	Associate	26968164, 27915094, 30929091, 31309540, 38364504
Microcephaly	Stimulate	34741399
Microphthalmos	Associate	35246174
Microsatellite Instability	Associate	12015762, 20696052, 30458818, 30910249, 31221124, 33115416
Migraine Disorders	Associate	35546551
Mitochondrial Diseases	Associate	24303084
Mixed Tumor Malignant	Associate	37285266
Mohr Tranebjaerg syndrome	Associate	35241028
Mouth Diseases	Associate	23626717, 32092099
Mouth Neoplasms	Associate	17764575, 20302655, 21781452, 23840677, 23999978, 24261884, 34564680, 36231010, 37203400
Mouth Neoplasms	Inhibit	23936352
Moyamoya Disease	Associate	23518061
Mucositis	Associate	37358854
Multiple Myeloma	Associate	15067127, 18575761, 19018094, 19270264, 20846389, 23155232, 25046247, 28099937, 28467797, 29212806, 31322175, 31506802, 32347936, 33469678, 34216957, 34584036, 37239457, 40650009 View all (3 more)
Multiple Sclerosis	Associate	35085379
Multiple Sclerosis Relapsing Remitting	Associate	32386505
Muscle Hypotonia	Associate	27915094, 38364504
Muscle Spasticity	Associate	27915094, 31309540
Muscular Dystrophy Facioscapulohumeral	Associate	29329560
Myelodysplastic Syndromes	Associate	18217891, 22706399, 26521017, 36291656
Myelodysplastic Syndromes	Inhibit	26078714
Myeloproliferative Disorder Chronic with Eosinophilia	Associate	22135721
Myocardial Infarction	Associate	27391264
Myocardial Ischemia	Associate	40620566
Myopathies Structural Congenital	Associate	38358183
Myopia	Associate	35586671
Myotonic Dystrophy	Associate	32155193
Myotonic Dystrophy	Stimulate	33077317
Nasal Polyps	Associate	28059551
Nasopharyngeal Carcinoma	Associate	19448422, 21240516, 21336584, 23573286, 24073846, 25297925, 26497204, 27769064, 29917194, 30075814, 30396174, 30779075, 30896882, 31841193, 32138771 View all (7 more)
Nasopharyngeal Neoplasms	Associate	33724059
Nasopharyngitis	Associate	27769064
Necrosis	Associate	29131245
Neointima	Associate	35410639
Neoplasm Invasiveness	Associate	15054469, 23936352, 26617850, 30782821
Neoplasm Metastasis	Associate	10817505, 11035789, 12467060, 12771132, 15810077, 15823129, 16731593, 17278192, 17695516, 18219106, 18455580, 18630466, 19202075, 19396152, 19413886 View all (171 more)
Neoplasm Metastasis	Stimulate	15316903, 22053859, 22168803, 36181462, 37092550
Neoplasm Metastasis	Inhibit	32453708, 9484818
Neoplasms	Associate	10027390, 10070329, 10076565, 10189891, 10206308, 10362114, 10391090, 10433945, 10487827, 10595907, 10607566, 10666372, 10681434, 10702403, 10759547 View all (867 more)
Neoplasms	Inhibit	10347231, 14719508, 17334348, 18445773, 19789364, 20514858, 21087614, 22049531, 23406730, 23633104, 24327474, 25537506, 25989272, 29341468, 31285588 View all (7 more)
Neoplasms	Stimulate	24317053, 25883172, 26416062, 30842215, 33947326, 33986121, 34148984, 35054980, 35676319, 36345011
Neoplasms Adipose Tissue	Associate	25518011
Neoplasms Basal Cell	Associate	24143938
Neoplasms Cystic Mucinous and Serous	Associate	10391090, 16461565, 23122366, 23174937, 24639398, 28664938
Neoplasms Germ Cell and Embryonal	Associate	20178649, 30390643
Neoplasms Glandular and Epithelial	Associate	15257703, 15806138, 25482924, 35239776, 36480093
Neoplasms Mesothelial	Associate	16240396, 22135721
Neoplasms Neuroepithelial	Associate	19633924
Neoplasms Squamous Cell	Associate	22341307, 25120767, 25524937, 27322774, 27498289, 34878149
Neoplastic Syndromes Hereditary	Associate	22520842
Nephrotic Syndrome	Associate	29131245
Nerve Degeneration	Associate	18266928, 30935413, 32035419, 33398088, 34941945, 35750046, 37629065
Nervous System Diseases	Associate	29198828, 34941945
Neurilemmoma	Associate	22247700
Neuroblastoma	Associate	11232642, 17873895, 22298956, 24561119, 25266063, 26340334, 26517508, 27531891, 29203817, 29505958, 30389710, 30868061, 32210188, 34011046
Neurocognitive Disorders	Associate	23152614
Neurocytoma	Associate	40154600
Neurodegenerative Diseases	Associate	20515496, 23152614, 30935413, 35487243, 36229517, 38110419
Neuroectodermal Tumors Primitive	Associate	19293793, 23591193
Neuroectodermal Tumors Primitive Peripheral	Associate	19293793, 23591193
Neuroendocrine Tumors	Associate	15712207, 23127113, 24700283, 25098665, 27784972
Neurofibromatosis 2	Stimulate	22247700
Neurofibromatosis 2	Associate	27345717
Neurofibrosarcoma	Associate	23434321
Neuroinflammatory Diseases	Associate	32035419
Neurotoxicity Syndromes	Associate	34831151
Neutropenia	Associate	37358854
Neutropenia Severe Congenital Autosomal Recessive 3	Associate	23382209
Nevus	Associate	28935960
NOG Related Symphalangism Spectrum Disorder	Associate	12799639
Non alcoholic Fatty Liver Disease	Associate	28796060, 29749571, 37494555
Non Muscle Invasive Bladder Neoplasms	Associate	26932430, 30509050, 35008872
Non Radiographic Axial Spondyloarthritis	Associate	36613445
Nonseminomatous germ cell tumor	Associate	27461702
Nonsyndromic Holoprosencephaly	Associate	18199528
Norrie disease	Associate	35328049
Obesity	Associate	18325910, 21521850, 23273980, 23442321, 32811441
Obesity	Inhibit	26045339
Ocular Motility Disorders	Associate	34088995
Oculocerebrorenal Syndrome	Associate	35349735
Odontodysplasia	Associate	35443664, 38574817
Odontogenic Cyst Calcifying	Associate	14578169, 38574817
Odontogenic Tumors	Associate	24664543
Odontoma	Associate	27586205, 28390135, 38133085
Olfaction Disorders	Associate	38369189
Oligodendroglioma	Associate	23474492
Oral Submucous Fibrosis	Associate	27497264
Oropharyngeal Neoplasms	Associate	20215420, 22507326
Osteoarthritis	Associate	17900349, 19810105, 20650323, 22127703, 22513174, 23237804, 23603903, 23748413, 24034904, 24819053, 26071314, 26318657, 26352263, 27999816, 28085114 View all (8 more)
Osteoarthritis	Stimulate	26123554, 29257245
Osteoarthritis Knee	Associate	31560818, 35137918
Osteoarthropathy Primary Hypertrophic	Associate	20042673
Osteoblastoma	Associate	24236197
Osteochondroma	Associate	23971040, 25498973
Osteochondroma	Stimulate	35676319
Osteogenesis Imperfecta	Associate	32757296, 33179111, 34078411
Osteoma	Associate	24236197, 34725446
Osteonecrosis	Associate	18288545, 25060766, 30808872
Osteoporosis	Associate	20843343, 25815782, 25957414, 26914116, 29164587, 35758378, 36451445, 36595228, 36736279, 37654220
Osteoporotic Fractures	Inhibit	39285416
Osteosarcoma	Associate	12402302, 20926002, 22006429, 23291185, 23971040, 24236197, 24714960, 24942472, 27455247, 28059051, 28081736, 28539830, 28770967, 29055954, 29523223 View all (27 more)
Osteosarcoma	Stimulate	35676319
Ovarian Diseases	Associate	14520463, 18500270, 19349352, 31560827, 36318113
Ovarian Neoplasms	Associate	10391090, 10433945, 11943708, 14520463, 15233950, 15823129, 16461565, 16479254, 19202075, 19820688, 20583256, 21518759, 21799864, 22120905, 22536442 View all (67 more)
Ovarian Neoplasms	Stimulate	15542433
Pancreatic Cyst	Associate	26253305, 31576098
Pancreatic Neoplasms	Associate	11943721, 12532469, 15696124, 15810077, 16756720, 17632456, 19608876, 21448903, 21987623, 22041584, 22158988, 22925330, 23359139, 23416978, 24156409 View all (41 more)
Pancreatic Neoplasms	Inhibit	17334348
Pancreatic Neoplasms	Stimulate	21196815
Pancreatitis	Associate	26572077
Pancreatoblastoma	Associate	11696422, 11891193, 11943721, 15696124, 24658583, 31581358
Papillomavirus Infections	Associate	23778524, 31437519, 32164487, 32794417
Parathyroid Neoplasms	Associate	18541010, 21078161, 23764768, 34054720, 37065733
Parkinson Disease	Associate	31582965, 34941945, 35269707, 36869069
Patterned dystrophy of retinal pigment epithelium	Associate	25604686
Perinephritis	Associate	29371329
Peripheral Arterial Disease	Associate	27351373
Peritoneal Fibrosis	Associate	37335673
Peritoneal Neoplasms	Associate	19688824
Peritonitis	Associate	12890743, 33144643
Personality Disorders	Associate	24358122, 31235588, 32240714, 35744950, 39229919
Personality Disorders	Inhibit	35563300
Pheochromocytoma	Associate	35269556
Pigmentation Disorders	Associate	25980672, 27918305, 37049801
Pigmented Nodular Adrenocortical Disease Primary 1	Associate	18419788
Pilomatrixoma	Associate	14633602, 15140206, 28658279, 32155193, 33099480, 33526526, 35613831, 37649312
Pituitary ACTH Hypersecretion	Associate	34489873
Pituitary Neoplasms	Associate	31604907, 35928898, 39290194
Placenta Diseases	Associate	34220309
Plagiocephaly and X linked mental retardation	Associate	38364504
Plasmacytoma	Associate	32197208
Pleural Diseases	Associate	22135721
Pleurisy	Associate	22135721
Pneumonia Aspiration	Associate	24481601
Pneumonia Pneumocystis	Associate	26198262
Polycystic Kidney Autosomal Dominant	Associate	14718571, 35122417
Polycystic Ovary Syndrome	Associate	35758378, 39912710
Polyposis Gastric	Associate	27406052
Polyposis Of Gastric Fundus Without Polyposis Coli	Associate	11238048, 12414520, 19918330, 36042639
Polyposis Syndrome Hereditary Mixed 1	Associate	16705313, 21170265
Polyps	Associate	11238048, 12377817, 20876524, 24925057, 27406052
Porphyria Cutanea Tarda	Associate	33000217
Posterior Capsular Rupture Ocular	Associate	38222447
Postoperative Nausea and Vomiting	Associate	37358854
Precancerous Conditions	Associate	11752446, 17710160, 17922924, 31067445, 31576098, 32794417, 32815451, 34275925
Precursor Cell Lymphoblastic Leukemia Lymphoma	Associate	12130512, 17148581, 19101069, 28440457
Precursor T Cell Lymphoblastic Leukemia Lymphoma	Associate	15257703, 17614820, 18217891, 24708856, 36597789
Pregnancy in Diabetics	Associate	37172903
Primary cortisol resistance	Associate	34534321
Prodromal Symptoms	Associate	20028760, 27498289, 30910249
Prostate cancer familial	Associate	29095436
Prostatic Intraepithelial Neoplasia	Associate	23844214, 25360740, 27067790
Prostatic Neoplasms	Associate	10206308, 11792709, 16334164, 17522055, 17979146, 18218096, 18561248, 19001380, 19233958, 19850036, 20537156, 21880738, 22276222, 22493441, 22820499 View all (45 more)
Prostatic Neoplasms	Inhibit	20454608
Prostatic Neoplasms	Stimulate	28697756
Prostatic Neoplasms Castration Resistant	Associate	26000489, 27148695, 29895194, 30620391, 30928160, 31176623, 35131873, 37047425
Prostatic stromal proliferation of uncertain malignant potential	Associate	39327577
Prostatitis	Associate	12063252, 12799378, 15316903, 25360740, 27196755, 30700322
Psoriasis	Associate	31089877
Pterygium	Associate	17360734, 25053875
Pterygium	Inhibit	36242878
Pulmonary Arterial Hypertension	Associate	26787464, 27188753
Pulmonary Blastoma	Associate	38235566
Pulmonary Disease Chronic Obstructive	Inhibit	21490961, 34105356
Pulmonary Disease Chronic Obstructive	Associate	21908588, 21980461, 28883453, 29765214, 33045470, 34125980, 34561292, 37936118
Pulmonary Fibrosis	Associate	22241478, 33707405
Pulmonary Sclerosing Hemangioma	Associate	27601661
Pyruvate Carboxylase Deficiency Disease	Associate	22393312
Q Fever	Associate	31293984
Radiation Injuries	Associate	34268939
Rectal Diseases	Associate	20002690
Rectal Neoplasms	Associate	16397240, 21975680, 24629143, 26134512, 28811361, 35762092, 38232812
Recurrence	Associate	32539220
Renal cell carcinoma 1	Stimulate	25609022
Renal Insufficiency Chronic	Associate	23935909, 27312441, 28343144, 28578904
Reperfusion Injury	Associate	30931679, 31284268
Respiratory Distress Syndrome Newborn	Associate	30536330
Respiratory System Abnormalities	Associate	36790797
Respiratory Tract Diseases	Associate	33951416
Respiratory Tract Infections	Associate	12057910, 35484165
Retinal Diseases	Associate	33350591
Retinal Dysplasia	Associate	12414520, 12740349, 17922924, 19448414, 24925057, 25029906, 26537717, 27767239, 28664941, 29148535, 31199922, 33300557, 34564680, 35246174
Retinal Dysplasia	Stimulate	26241451
Retinal Nonattachment Nonsyndromic Congenital	Associate	35246174
Retinoblastoma	Associate	26662307, 28550678, 29287592, 30024609, 31033463, 32277664, 32561925, 34268999, 35297943, 39738380
Rett Syndrome	Associate	36555252
Rhabdomyosarcoma	Associate	23999248, 35796028, 39368853
Rhabdomyosarcoma Alveolar	Associate	23999248
Rhabdomyosarcoma Embryonal	Associate	22142829, 23999248
Rotator Cuff Tear Arthropathy	Associate	40243895
Rufous oculocutaneous albinism	Associate	12439911, 28328801
Salivary Duct Calculi	Associate	36480093
Salivary Gland Neoplasms	Associate	24853424, 32650834
Sarcoidosis	Associate	21146388
Sarcoma	Associate	15913453, 24019980, 32461620, 39778225
Sarcoma Alveolar Soft Part	Associate	35628499
Sarcoma Endometrial Stromal	Associate	15375433, 18376386, 19898427, 32385140
Sarcoma Ewing	Associate	29386236, 32544094
Sarcoma Ewing	Stimulate	35676319
Sarcoma Kaposi	Associate	15855650, 29131245
Sarcoma Synovial	Associate	10189891, 15375433, 16740029, 24294365, 26842923, 27325236, 27334220, 36920288
Scalp ear nipple syndrome	Associate	33000225
Schilbach Rott Syndrome Ocular Hypotelorism Submucosal Cleft Palate and Hypospadias	Associate	24925057
Schizophrenia	Associate	25041379, 29507296, 30280518
Schizophrenia	Stimulate	30280518
Scleroderma Systemic	Associate	22328118, 31178673, 37587067, 38570030
Sclerosis	Associate	26034868, 29236566
Scoliosis	Associate	32448279, 37031322, 37302424
Seminoma	Associate	27461702
Seminoma	Inhibit	30390643
Sepsis	Associate	35239776
Sertoli Cell Tumor	Associate	26034868, 36180576, 36906070, 37189109
Sex Cord Gonadal Stromal Tumors	Associate	26034868, 36180576, 37871653
Sexual Dysfunction Physiological	Associate	26448925
Shwachman Diamond Syndrome	Associate	33221336
Sinonasal undifferentiated carcinoma	Associate	23633104, 32818509, 38369189
Sinusitis	Associate	35154161
Skin Diseases	Associate	20559121
Skin Neoplasms	Associate	14633602, 23690679, 28300597
Small Cell Lung Carcinoma	Associate	15712207, 19609729, 19812504, 35838343
Smooth Muscle Tumor	Associate	24586847
Soft Tissue Neoplasms	Associate	10189891, 15054469
Solitary Fibrous Tumors	Associate	15375433, 15913427, 22135721, 27325236, 28887603
Spinocerebellar Degenerations	Associate	28675510
Spondylitis Ankylosing	Associate	31656088
Squamous Cell Carcinoma of Head and Neck	Associate	11271788, 12888830, 19915524, 20028760, 21206167, 22197995, 22507326, 22526207, 23406730, 23519607, 23703614, 23730900, 23999978, 24511551, 24722213 View all (51 more)
Squamous Cell Carcinoma of Head and Neck	Stimulate	37445628
Squamous Intraepithelial Lesions	Associate	10433943
Squamous Intraepithelial Lesions	Stimulate	31374065
Stevens Johnson Syndrome	Associate	31929762
Stiff Person Syndrome	Associate	26968164
Stiff Skin Syndrome	Associate	27082570, 30482161, 30547685
Stomach Diseases	Associate	12439911, 16948518, 24528029, 36064550
Stomach Neoplasms	Associate	10604738, 11125285, 11747475, 12439911, 12460462, 16830381, 17149756, 17663505, 17982235, 18330950, 19051296, 19060929, 19413886, 19688824, 19798449 View all (118 more)
Stomatitis	Associate	26537717, 27769064
Strabismus	Associate	33350591
Stroke	Associate	22167233, 30760287
Subarachnoid Hemorrhage	Associate	36402441
Supraglottitis	Associate	36149200
Syndactyly Cenani Lenz type	Associate	20381006
Syndrome	Associate	26968164
Syndrome	Inhibit	37895192
Synovial Cyst	Associate	39229919
Tarlov Cysts	Associate	23844214
Tertiary Lymphoid Structures	Associate	15139049, 20529814, 22012768, 25413006
Testicular Germ Cell Tumor	Associate	30390643, 35575252
Tetralogy of Fallot	Associate	37749917
Thecoma	Associate	37335673
Thrombosis	Associate	28323122
Thymoma	Associate	34135467
Thyroid Cancer Papillary	Associate	11092973, 19223551, 21814573, 25547151, 26416247, 27713418, 28277188, 29243023, 29630517, 30165731, 30272290, 30534810, 32198408, 32291398, 32373973 View all (6 more)
Thyroid Carcinoma Anaplastic	Associate	25576899, 31077090, 36773307, 37351847, 39376176
Thyroid Neoplasms	Associate	11092973, 11238046, 23979959, 25576899, 33125134, 35198054, 35442371, 35795862, 36820560
Thyroiditis	Associate	20067378
Tibial Meniscus Injuries	Associate	35733354
Tn Syndrome	Associate	24209998
Tongue Neoplasms	Associate	11206273, 23103626, 26036631
Triple Negative Breast Neoplasms	Associate	22649545, 24143235, 24188694, 25068292, 25848952, 27208794, 27281609, 27902969, 28247948, 28423652, 28674186, 30941948, 31059004, 31298383, 31390375 View all (24 more)
Trophoblastic Neoplasms	Associate	37608294
Tuberculosis Meningeal	Stimulate	32002283
Tuberculosis Multidrug Resistant	Associate	20193114, 22823957, 32426817
Tuberculosis Pulmonary	Associate	28333932, 36569862
Tuberous Sclerosis	Associate	27918305
Turcot syndrome	Associate	10666372, 28961847, 32293346, 32620917
Typical Teratoid Rhabdoid Tumor	Associate	22180295
Ulcer	Associate	11953860
Uniparental Disomy	Stimulate	27213811
Upton Young syndrome	Associate	10621837
Urethral Neoplasms	Associate	12618884, 12799639, 21533174, 26039708, 26614845, 28088268, 30509050, 31348552, 33289586
Urethritis	Associate	33214068
Urinary Bladder Diseases	Associate	16367920
Urinary Bladder Neoplasms	Associate	22049531, 23226455, 26069102, 26173102, 26192362, 26369384, 26541358, 26614845, 26643891, 26684800, 26932430, 28081738, 28199978, 28337959, 29250666 View all (31 more)
Urinary Bladder Neoplasms	Stimulate	28705118
Urologic Neoplasms	Associate	20421722, 22951176, 25349215
Uterine Cervical Dysplasia	Associate	23826417, 24289604, 32533343, 34257574
Uterine Cervical Neoplasms	Associate	10780674, 11893906, 21873353, 23301094, 23819460, 25973056, 26560046, 27081037, 27513465, 28448437, 28902356, 29079964, 29115417, 29271990, 29363722 View all (33 more)
Uterine Cervical Neoplasms	Inhibit	14675348
Uterine Cervical Neoplasms	Stimulate	27843945
Uterine Cervicitis	Associate	35144405, 37981694
Uterine Diseases	Associate	25144715, 26722510, 35327987
Uterine Neoplasms	Associate	32388637
Uveal melanoma	Associate	31960425, 33579337, 33721449
Van der Woude syndrome	Associate	24442519
Varicose Ulcer	Associate	15330191
Vascular Calcification	Associate	22874762, 27082570, 36930472, 37728820
Vascular Diseases	Associate	30272329
Vascular System Injuries	Associate	28173817, 35410639
VATER association	Associate	24516707
Ventricular Dysfunction Left	Associate	22475572
Virus Diseases	Associate	14663138, 35216447, 38203386
Vision Disorders	Associate	30929091, 33350591, 35246174
Vitiligo	Associate	30206310
Vitreoretinopathy Proliferative	Associate	33350591, 33759344
von Hippel Lindau Disease	Associate	25313256
Vulvar Neoplasms	Associate	23778524, 23826417
Wilms Tumor	Associate	12761165, 12890743, 15579438, 17172473, 17551084, 17873895, 18618575, 19416806, 20332316, 22081130, 22409817, 22437966, 22470196, 23333300, 25331950 View all (10 more)
Wilms Tumor	Inhibit	20696052
Wolf Hirschhorn Syndrome	Associate	22028615
Zinc Deficiency Neonatal due to Low Breast Milk Zinc	Associate	18716167

CTNNB1 (catenin beta 1)