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

Gene Gene information from NCBI Gene database. Gene SNPs Transcription factors Other IDs Associated diseases
Entrez ID	1956
Gene name	Epidermal growth factor receptor
Gene symbol	EGFR
Synonyms (NCBI Gene)	ERBBERBB1ERRPHER1NISBD2NNCISPIG61mENA
Chromosome	7
Chromosome location	7p11.2
Summary	The protein encoded by this gene is a transmembrane glycoprotein that is a member of the protein kinase superfamily. This protein is a receptor for members of the epidermal growth factor family. EGFR is a cell surface protein that binds to epidermal growt

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SNP ID	Visualize variation	Clinical significance	Consequence
rs28929495	G>A,C,T	Pathogenic, likely-pathogenic, not-provided, drug-response	Missense variant, genic downstream transcript variant, coding sequence variant
rs121434568	T>A,G	Drug-response, pathogenic, likely-pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs121913229	G>C	Uncertain-significance, likely-pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs121913231	C>T	Likely-pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs121913418	G>A,T	Uncertain-significance, likely-pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs121913420	G>A	Likely-pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs121913421	GGAATTAAGAGAAGC>-	Drug-response	Genic downstream transcript variant, inframe deletion, coding sequence variant
rs121913422	AATTAAGAGAAGCAACAT>-	Drug-response	Genic downstream transcript variant, inframe indel, coding sequence variant
rs121913424	AATTAAGAGAAGCAACATCT>TC	Drug-response	Genic downstream transcript variant, inframe indel, coding sequence variant
rs121913425	AATTAAGAGAAGCAA>-	Drug-response	Genic downstream transcript variant, inframe indel, coding sequence variant
rs121913427	G>A,C	Not-provided, likely-pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs121913428	G>A,C	Pathogenic, likely-pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs121913430	G>A	Likely-pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs121913433	A>G	Likely-pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs121913434	C>G,T	Drug-response	Genic downstream transcript variant, missense variant, coding sequence variant
rs121913435	ATTAAGAGAAG>GC	Drug-response	Genic downstream transcript variant, inframe indel, coding sequence variant
rs121913436	TTAAGAGAA>-	Drug-response	Genic downstream transcript variant, inframe deletion, coding sequence variant
rs121913438	TAAGAGAAGCAACATCTC>-	Drug-response	Genic downstream transcript variant, inframe indel, coding sequence variant
rs121913440	TTAAGAGAAGCAACATCT>-	Drug-response	Genic downstream transcript variant, inframe deletion, coding sequence variant
rs121913442	TAAGAGAAGCAACAT>-	Drug-response	Genic downstream transcript variant, inframe deletion, coding sequence variant
rs121913443	C>A,T	Likely-benign, uncertain-significance, likely-pathogenic	Genic downstream transcript variant, synonymous variant, missense variant, coding sequence variant
rs121913444	T>A,C,G	Uncertain-significance, drug-response, pathogenic, likely-pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs121913446	C>T	Likely-pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs121913463	TCTCCGAAAGCCAACAAGGAAATC>-	Drug-response	Genic downstream transcript variant, inframe deletion, coding sequence variant
rs121913464	C>A	Likely-pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs121913466	T>C	Likely-pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs121913467	G>A	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained
rs139236063	G>C,T	Likely-pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs139429793	G>A	Pathogenic	Missense variant, coding sequence variant
rs146795390	G>A	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs149840192	C>A,T	Likely-pathogenic	Coding sequence variant, intron variant, missense variant
rs150036236	G>A	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs397509368	TTAAGAGAAGCAA>C	Drug-response	Genic downstream transcript variant, coding sequence variant, inframe indel
rs397517085	A>C,G,T	Drug-response, uncertain-significance	Missense variant, genic downstream transcript variant, coding sequence variant
rs397517086	AAC>-	Pathogenic	Genic downstream transcript variant, coding sequence variant, inframe indel
rs397517094	CAAGGAATTAAGAGAAGC>AAA	Likely-pathogenic	Genic downstream transcript variant, inframe deletion, coding sequence variant
rs397517097	T>C	Likely-pathogenic, uncertain-significance	Missense variant, genic downstream transcript variant, coding sequence variant
rs397517098	TAAGAGAAG>-	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, inframe indel
rs397517127	G>C,T	Pathogenic, uncertain-significance	Missense variant, genic downstream transcript variant, coding sequence variant
rs483352805	G>A	Drug-response	Genic downstream transcript variant, missense variant, coding sequence variant
rs483352808	G>A	Drug-response	Genic downstream transcript variant, missense variant, coding sequence variant
rs606231253	G>A	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs727503014	ATCAAGGAATTAAGAGAAGC>GTCAA	Drug-response	Coding sequence variant, inframe indel, genic downstream transcript variant
rs727503015	AATTAAGAGAAG>CAC,CCC	Drug-response	Coding sequence variant, inframe indel, genic downstream transcript variant
rs727503016	AATTAAGAGAAGCAA>TTC	Drug-response	Coding sequence variant, inframe indel, genic downstream transcript variant
rs727504232	ATCTCCGAAAGCCAACAAGGAAAT>-	Drug-response	Coding sequence variant, genic downstream transcript variant, inframe deletion
rs727504233	GAATTAAGAGAAGCA>-	Drug-response	Coding sequence variant, genic downstream transcript variant, inframe deletion
rs727504256	G>A	Drug-response	Coding sequence variant, missense variant, genic downstream transcript variant
rs727504257	ATTAAGAGAAGCAA>GC	Drug-response	Coding sequence variant, inframe indel, genic downstream transcript variant
rs727504258	AATTAAGAGAAGCAACATC>T	Drug-response	Coding sequence variant, inframe indel, genic downstream transcript variant
rs727504266	GGAATTAAG>-	Drug-response	Coding sequence variant, genic downstream transcript variant, inframe deletion
rs727504278	TTAAGAGAAG>C	Drug-response	Coding sequence variant, inframe indel, genic downstream transcript variant
rs727504281	GGAATTAAGAGAAG>AATTC	Drug-response	Coding sequence variant, inframe indel, genic downstream transcript variant
rs727504282	AATTAAGAGAAGCAACATCTC>TCT	Drug-response	Coding sequence variant, inframe indel, genic downstream transcript variant
rs727504316	C>T	Drug-response	Coding sequence variant, missense variant, genic downstream transcript variant
rs727504324	CAAGGAATTAAGAGAAGCA>-	Drug-response	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs727504326	->AAAATTCCCGTCGCTA	Drug-response	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs727504332	GGAATTAAGAGAAGCAA>AATTC	Drug-response	Coding sequence variant, inframe indel, genic downstream transcript variant
rs727504339	TTAAGAGAAGCAACATCTC>A,CAAT	Drug-response	Coding sequence variant, inframe indel, genic downstream transcript variant
rs727504395	ACATCTCCGAAAGCCAACAAGGAAATC>GAT	Drug-response	Coding sequence variant, inframe indel, genic downstream transcript variant
rs727504402	GAATTAAGAGAAGCAAC>AT	Drug-response	Coding sequence variant, inframe indel, genic downstream transcript variant
rs727504414	TTAAGAGAAGCAACATCTCCGAAAGC>ACGAGAGA	Drug-response	Coding sequence variant, inframe indel, genic downstream transcript variant
rs727504428	CAAGGAATTAAGAGAAGCAAC>AAAGTT	Drug-response	Coding sequence variant, inframe indel, genic downstream transcript variant
rs727504444	AATTAAGAGA>C	Drug-response	Coding sequence variant, inframe indel, genic downstream transcript variant
rs769696078	G>A	Likely-pathogenic	Coding sequence variant, intron variant, missense variant
rs886037891	G>T	Pathogenic	Missense variant, coding sequence variant
rs909905659	G>A,T	Likely-pathogenic	Genic downstream transcript variant, missense variant, stop gained, coding sequence variant, intron variant
rs1057519760	A>G	Likely-pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs1057519794	G>A	Likely-pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs1057519828	G>A	Likely-pathogenic	Missense variant, coding sequence variant, intron variant
rs1057519829	A>C,G	Likely-pathogenic	Missense variant, coding sequence variant, intron variant
rs1057519830	C>T	Likely-pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs1057519848	TG>GT	Likely-pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs1057519887	GC>AA,AT	Likely-pathogenic	Missense variant, coding sequence variant, intron variant
rs1057519888	A>G	Likely-pathogenic	Missense variant, coding sequence variant, intron variant
rs1057520037	G>C	Likely-pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant

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miRTarBase ID	miRNA	Experiments	Reference
MIRT002289	hsa-miR-7-5p	real-time RT-PCRReporter assayWestern blot	18483236
MIRT002289	hsa-miR-7-5p	Luciferase reporter assay	18483236
MIRT002289	hsa-miR-7-5p	Luciferase reporter assay	18483236
MIRT002289	hsa-miR-7-5p	Luciferase reporter assay	18483236
MIRT002289	hsa-miR-7-5p	Western blot	18483236
MIRT006585	hsa-miR-128-3p	Luciferase reporter assay	18304967
MIRT002289	hsa-miR-7-5p	Luciferase reporter assay	19033458
MIRT002289	hsa-miR-7-5p	Luciferase reporter assay	19029026
MIRT002289	hsa-miR-7-5p	Luciferase reporter assay	18483236
MIRT006585	hsa-miR-128-3p	Review	20130964
MIRT003325	hsa-miR-145-5p	Review	20026422
MIRT004730	hsa-miR-146a-5p	qRT-PCRWestern blot	20124483
MIRT001470	hsa-miR-16-5p	pSILAC	18668040
MIRT001370	hsa-miR-1-3p	pSILAC	18668040
MIRT002289	hsa-miR-7-5p	Luciferase reporter assayqRT-PCRWestern blot	19073608
MIRT002289	hsa-miR-7-5p	Luciferase reporter assayqRT-PCRWestern blot	19073608
MIRT002289	hsa-miR-7-5p	Luciferase reporter assayqRT-PCRWestern blot	19073608
MIRT002289	hsa-miR-7-5p	Luciferase reporter assayqRT-PCRWestern blot	19073608
MIRT002289	hsa-miR-7-5p	Luciferase reporter assayqRT-PCRWestern blot	19073608
MIRT002289	hsa-miR-7-5p	Luciferase reporter assayqRT-PCRWestern blot	19073608
MIRT005807	hsa-miR-21-5p	Luciferase reporter assayMicroarrayWestern blot	20864407
MIRT002289	hsa-miR-7-5p	Luciferase reporter assayMicroarrayWestern blot	20864407
MIRT006330	hsa-miR-542-5p	Luciferase reporter assayqRT-PCRWestern blot	22426479
MIRT004730	hsa-miR-146a-5p	Luciferase reporter assayWestern blot	21632853
MIRT004730	hsa-miR-146a-5p	Luciferase reporter assayWestern blot	21632853
MIRT006330	hsa-miR-542-5p	Luciferase reporter assayqRT-PCRWestern blot	22426479
MIRT004730	hsa-miR-146a-5p	Luciferase reporter assayqRT-PCRWestern blot	22161865
MIRT004730	hsa-miR-146a-5p	Luciferase reporter assayWestern blot	21632853
MIRT006330	hsa-miR-542-5p	Luciferase reporter assayqRT-PCRWestern blot	22426479
MIRT004730	hsa-miR-146a-5p	Luciferase reporter assayqRT-PCRWestern blot	22161865
MIRT003325	hsa-miR-145-5p	MicroarrayqRT-PCRWestern blot	21289483
MIRT007032	hsa-miR-133a-3p	Luciferase reporter assay	23069713
MIRT007069	hsa-miR-133b	FlowIn situ hybridizationLuciferase reporter assayqRT-PCRWestern blot	22883469
MIRT007360	hsa-miR-27a-3p	Luciferase reporter assay	23559009
MIRT018378	hsa-miR-335-5p	Microarray	18185580
MIRT020911	hsa-miR-155-5p	Proteomics	18668040
MIRT004730	hsa-miR-146a-5p	Western blot	19190326
MIRT001370	hsa-miR-1-3p	Proteomics;Other	18668040
MIRT002289	hsa-miR-7-5p	Microarray	17612493
MIRT002289	hsa-miR-7-5p	Reporter assay;Western blot;qRT-PCR;Other	18483236
MIRT002289	hsa-miR-7-5p	Reporter assay;Western blot;qRT-PCR;Microarray;Other	19073608
MIRT028600	hsa-miR-30a-5p	Proteomics	18668040
MIRT005807	hsa-miR-21-5p	Western blot;Other	20048743
MIRT001470	hsa-miR-16-5p	Proteomics;Other	18668040
MIRT002289	hsa-miR-7-5p	Western blot	22853714
MIRT004353	hsa-miR-128-3p	Western blot	22853714
MIRT035541	hsa-let-7a-5p	Luciferase reporter assay	23032975
MIRT036702	hsa-miR-301b-3p	CLASH	23622248
MIRT007069	hsa-miR-133b	Luciferase reporter assayWestern blot	22407299
MIRT007069	hsa-miR-133b	Luciferase reporter assayWestern blot	22407299
MIRT007032	hsa-miR-133a-3p	Luciferase reporter assayWestern blot	22407299
MIRT007032	hsa-miR-133a-3p	Luciferase reporter assayWestern blot	22407299
MIRT002289	hsa-miR-7-5p	ImmunohistochemistryIn situ hybridizationqRT-PCRWestern blot	24816687
MIRT007032	hsa-miR-133a-3p	Luciferase reporter assayqRT-PCR	24816813
MIRT007360	hsa-miR-27a-3p	Luciferase reporter assayqRT-PCRWestern blot	23650389
MIRT007360	hsa-miR-27a-3p	Luciferase reporter assayqRT-PCRWestern blot	23650389
MIRT007360	hsa-miR-27a-3p	Luciferase reporter assayqRT-PCRWestern blot	23650389
MIRT007360	hsa-miR-27a-3p	Luciferase reporter assayqRT-PCRWestern blot	23650389
MIRT007032	hsa-miR-133a-3p	FlowLuciferase reporter assayqRT-PCRWestern blot	23786162
MIRT002289	hsa-miR-7-5p	Luciferase reporter assayMicroarrayqRT-PCRWestern blot	23115635
MIRT002289	hsa-miR-7-5p	Luciferase reporter assayMicroarrayqRT-PCRWestern blot	24573489
MIRT002289	hsa-miR-7-5p	Luciferase reporter assayMicroarrayqRT-PCRWestern blot	24573489
MIRT002289	hsa-miR-7-5p	Luciferase reporter assayMicroarrayqRT-PCRWestern blot	24573489
MIRT054243	hsa-miR-574-3p	Luciferase reporter assayMicroarrayqRT-PCRWestern blot	23554959
MIRT004730	hsa-miR-146a-5p	Western blotqRT-PCR	23555954
MIRT054487	hsa-miR-219a-5p	Luciferase reporter assayMicroarrayWestern blotqRT-PCR	23690991
MIRT054487	hsa-miR-219a-5p	Luciferase reporter assayMicroarrayWestern blotqRT-PCR	23690991
MIRT054661	hsa-miR-302b-3p	Luciferase reporter assayqRT-PCRWestern blot	24083596
MIRT054661	hsa-miR-302b-3p	Luciferase reporter assayqRT-PCRWestern blot	24083596
MIRT004730	hsa-miR-146a-5p	Luciferase reporter assayQRTPCRWestern blot	24839931
MIRT054888	hsa-miR-125a-5p	qRT-PCRWestern blot	24484870
MIRT002289	hsa-miR-7-5p	Luciferase reporter assay	23319046
MIRT002289	hsa-miR-7-5p	Luciferase reporter assay	23319046
MIRT002289	hsa-miR-7-5p	FlowqRT-PCRWestern blot	24134702
MIRT002289	hsa-miR-7-5p	FlowqRT-PCRWestern blot	24134702
MIRT002289	hsa-miR-7-5p	FlowqRT-PCRWestern blot	24134702
MIRT438024	hsa-miR-218-5p	Luciferase reporter assay	24368849
MIRT002289	hsa-miR-7-5p	FlowqRT-PCRWestern blot	24134702
MIRT002289	hsa-miR-7-5p	FlowqRT-PCRWestern blot	24134702
MIRT002289	hsa-miR-7-5p	FlowqRT-PCRWestern blot	24134702
MIRT438024	hsa-miR-218-5p	Luciferase reporter assay	24368849
MIRT438024	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT438024	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT002289	hsa-miR-7-5p	Luciferase reporter assayqRT-PCRWestern blot	25475098
MIRT002289	hsa-miR-7-5p	Luciferase reporter assayqRT-PCRWestern blot	25475098
MIRT002289	hsa-miR-7-5p	Luciferase reporter assayqRT-PCRWestern blot	25475098
MIRT002289	hsa-miR-7-5p	Luciferase reporter assayqRT-PCRWestern blot	25475098
MIRT007069	hsa-miR-133b	Luciferase reporter assayWestern blot	26617770
MIRT007069	hsa-miR-133b	Luciferase reporter assayWestern blot	26617770
MIRT731611	hsa-miR-2861	Luciferase reporter assayWestern blot	27364926
MIRT731611	hsa-miR-2861	Luciferase reporter assayWestern blot	27364926
MIRT007032	hsa-miR-133a-3p	Luciferase reporter assayWestern blot	26134491
MIRT007032	hsa-miR-133a-3p	Luciferase reporter assayWestern blot	26134491
MIRT731713	hsa-miR-132-3p	ImmunohistochemistryLuciferase reporter assayqRT-PCRWestern blot	26452132
MIRT731713	hsa-miR-132-3p	ImmunohistochemistryLuciferase reporter assayqRT-PCRWestern blot	26452132
MIRT731713	hsa-miR-132-3p	ImmunohistochemistryLuciferase reporter assayqRT-PCRWestern blot	26452132
MIRT731713	hsa-miR-132-3p	ImmunohistochemistryLuciferase reporter assayqRT-PCRWestern blot	26452132
MIRT732238	hsa-miR-875-5p	Luciferase reporter assayWestern blot	27302926
MIRT732238	hsa-miR-875-5p	Luciferase reporter assayWestern blot	27302926
MIRT732244	hsa-miR-7-1-3p	MicroarrayqRT-PCRWestern blot	27448964
MIRT732244	hsa-miR-7-1-3p	MicroarrayqRT-PCRWestern blot	27448964
MIRT004730	hsa-miR-146a-5p	ImmunohistochemistryLuciferase reporter assayqRT-PCRWestern blot	27818285
MIRT732238	hsa-miR-875-5p	ImmunofluorescenceLuciferase reporter assayqRT-PCRWestern blot	28274892
MIRT737367	hsa-miR-3622b-5p	Luciferase reporter assay	27611943
MIRT737367	hsa-miR-3622b-5p	Luciferase reporter assay	27611943
MIRT737367	hsa-miR-3622b-5p	Luciferase reporter assay	27611943
MIRT737367	hsa-miR-3622b-5p	Luciferase reporter assay	27611943
MIRT737367	hsa-miR-3622b-5p	Luciferase reporter assay	27611943
MIRT737367	hsa-miR-3622b-5p	Luciferase reporter assay	27611943
MIRT438024	hsa-miR-218-5p	Luciferase reporter assayqRT-PCRWestern blot	27057632
MIRT438024	hsa-miR-218-5p	Luciferase reporter assayqRT-PCRWestern blot	27057632
MIRT438024	hsa-miR-218-5p	Luciferase reporter assayqRT-PCRWestern blot	27057632
MIRT734664	hsa-miR-133a-5p	Western blot	27465833
MIRT737349	hsa-miR-137	Luciferase reporter assayWestern blot	28386374
MIRT737349	hsa-miR-137	Luciferase reporter assayWestern blot	28386374
MIRT020911	hsa-miR-155-5p	ImmunofluorescenceLuciferase reporter assayMicroarrayqRT-PCRWestern blotting	33474615
MIRT732647	hsa-miR-608	qRT-PCR	33523578
MIRT733293	hsa-miR-128-2-5p	Immunohistochemistry (IHC)qRT-PCR	31638205
MIRT005807	hsa-miR-21-3p	qRT-PCR	34208765
MIRT007360	hsa-miR-27a-3p	qRT-PCR	34208765
MIRT733417	hsa-miR-181a-5p	qRT-PCR	34208765
MIRT733444	hsa-miR-200b-3p	Luciferase reporter assayqRT-PCRWestern blotting	32708220
MIRT054487	hsa-miR-219a-5p	ImmunofluorescenceqRT-PCRWestern blotting	34113391
MIRT733741	hsa-miR-646	Luciferase reporter assayMicroarrayqRT-PCRWestern blotting	33335643
MIRT004730	hsa-miR-146a-5p	Luciferase reporter assayqRT-PCRWestern blotting	33317606
MIRT734078	hsa-miR-557	Luciferase reporter assayMicroarrayqRT-PCRWestern blotting	31933947
MIRT734109	hsa-miR-138-5p	Luciferase reporter assayWestern blottingImmunohistochemistry (IHC)qRT-PCRFlow cytometry	33209893
MIRT007032	hsa-miR-133a-3p	Luciferase reporter assayqRT-PCRWestern blotting	32764884
MIRT734189	hsa-miR-634	ELISAImmunofluorescenceLuciferase reporter assayqRT-PCRWestern blotting	33294587
MIRT734191	hsa-miR-3934-5p	FACSMicroarrayWestern blotting	33605506
MIRT004730	hsa-miR-146a-5p	ImmunofluorescenceImmunohistochemistry (IHC)Luciferase reporter assayqRT-PCRWestern blotting	33317606
MIRT734664	hsa-miR-133a-5p	Luciferase reporter assay	31736422
MIRT734684	hsa-miR-21-3p	MicroarrayELISA	31727077
MIRT734685	hsa-miR-146a-3p	MicroarrayELISA	31727077
MIRT734686	hsa-miR-146b-3p	MicroarrayELISA	31727077
MIRT054243	hsa-miR-574-3p	qRT-PCR	33194623
MIRT006330	hsa-miR-542-5p	qRT-PCRFlow cytometry	33173276
MIRT007069	hsa-miR-133b	Immunohistochemistry (IHC)qRT-PCRELISA	33211633
MIRT736365	hsa-miR-486-3p	Luciferase reporter assayWestern blottingImmunohistochemistry (IHC)qRT-PCR	32313144
MIRT736523	hsa-miR-193a-3p	Luciferase reporter assayWestern blotting	34288281
MIRT002289	hsa-miR-7-5p	Western blottingqRT-PCR	32592373
MIRT054888	hsa-miR-125a-5p	Western blottingqRT-PCR	34081797
MIRT736883	hsa-miR-145-3p	Western blottingqRT-PCR	34081797
MIRT736883	hsa-miR-145-3p	qRT-PCR	31554377
MIRT054888	hsa-miR-125a-5p	qRT-PCRELISA	31759360
MIRT736974	hsa-miR-802	Luciferase reporter assayWestern blottingImmunohistochemistry (IHC)Translational profilingin vitro cullelar assaysqRT-PCRin vivo gain/loss-of-function experiments	32210368
MIRT736982	hsa-miR-4328	MicroarrayImmunohistochemistry (IHC)	32170146
MIRT736523	hsa-miR-193a-3p	Luciferase reporter assayWestern blottingFlow cytometry	34288281
MIRT737297	hsa-miR-9-3p	Luciferase reporter assayWestern blottingqRT-PCR	32772818
MIRT737349	hsa-miR-137	Western blottingMicroarrayqRT-PCRFlow cytometryELISA	32627038
MIRT737365	hsa-miR-200c-3p	Western blottingRNA-seqqRT-PCR	32417760
MIRT737367	hsa-miR-3622b-5p	Luciferase reporter assayWestern blottingRNA-seq	32371581
MIRT007360	hsa-miR-27a-3p	Luciferase reporter assayWestern blottingqRT-PCR	32039029
MIRT756070	hsa-miR-377-3p	Luciferase reporter assayqRT-PCR	34668101
MIRT756387	hsa-miR-370-3p	Luciferase reporter assayWestern blottingqRT-PCRImmunoprecipitaion (IP)	34618022
MIRT954740	hsa-miR-103a	CLIP-seq
MIRT954741	hsa-miR-107	CLIP-seq
MIRT954742	hsa-miR-1183	CLIP-seq
MIRT954743	hsa-miR-1275	CLIP-seq
MIRT954744	hsa-miR-1323	CLIP-seq
MIRT954745	hsa-miR-2277-3p	CLIP-seq
MIRT954746	hsa-miR-2278	CLIP-seq
MIRT954747	hsa-miR-3120-3p	CLIP-seq
MIRT954748	hsa-miR-3129-3p	CLIP-seq
MIRT954749	hsa-miR-3144-5p	CLIP-seq
MIRT954750	hsa-miR-3150a-3p	CLIP-seq
MIRT954751	hsa-miR-3170	CLIP-seq
MIRT954752	hsa-miR-3175	CLIP-seq
MIRT954753	hsa-miR-3191	CLIP-seq
MIRT954754	hsa-miR-342-5p	CLIP-seq
MIRT954755	hsa-miR-3647-3p	CLIP-seq
MIRT954756	hsa-miR-3929	CLIP-seq
MIRT954757	hsa-miR-3942-3p	CLIP-seq
MIRT954758	hsa-miR-4260	CLIP-seq
MIRT954759	hsa-miR-4261	CLIP-seq
MIRT954760	hsa-miR-433	CLIP-seq
MIRT954761	hsa-miR-4419b	CLIP-seq
MIRT954762	hsa-miR-4428	CLIP-seq
MIRT954763	hsa-miR-4478	CLIP-seq
MIRT954764	hsa-miR-4509	CLIP-seq
MIRT954765	hsa-miR-451b	CLIP-seq
MIRT954766	hsa-miR-4651	CLIP-seq
MIRT954767	hsa-miR-4652-5p	CLIP-seq
MIRT954768	hsa-miR-4664-5p	CLIP-seq
MIRT954769	hsa-miR-4665-5p	CLIP-seq
MIRT954770	hsa-miR-4682	CLIP-seq
MIRT954771	hsa-miR-4688	CLIP-seq
MIRT954772	hsa-miR-4696	CLIP-seq
MIRT954773	hsa-miR-4735-5p	CLIP-seq
MIRT954774	hsa-miR-4775	CLIP-seq
MIRT954775	hsa-miR-4803	CLIP-seq
MIRT954776	hsa-miR-548o	CLIP-seq
MIRT954777	hsa-miR-590-3p	CLIP-seq
MIRT954778	hsa-miR-607	CLIP-seq
MIRT954779	hsa-miR-875-3p	CLIP-seq
MIRT954780	hsa-miR-939	CLIP-seq
MIRT954781	hsa-miR-4436a	CLIP-seq
MIRT1982758	hsa-miR-105	CLIP-seq
MIRT1982759	hsa-miR-128	CLIP-seq
MIRT1982760	hsa-miR-133a	CLIP-seq
MIRT954746	hsa-miR-2278	CLIP-seq
MIRT1982761	hsa-miR-27a	CLIP-seq
MIRT1982762	hsa-miR-27b	CLIP-seq
MIRT1982763	hsa-miR-3136-5p	CLIP-seq
MIRT1982764	hsa-miR-3674	CLIP-seq
MIRT954757	hsa-miR-3942-3p	CLIP-seq
MIRT954762	hsa-miR-4428	CLIP-seq
MIRT1982765	hsa-miR-4439	CLIP-seq
MIRT1982766	hsa-miR-4502	CLIP-seq
MIRT1982767	hsa-miR-4513	CLIP-seq
MIRT1982768	hsa-miR-4728-3p	CLIP-seq
MIRT1982769	hsa-miR-579	CLIP-seq
MIRT1982770	hsa-miR-622	CLIP-seq
MIRT1982758	hsa-miR-105	CLIP-seq
MIRT1982759	hsa-miR-128	CLIP-seq
MIRT2217637	hsa-miR-1587	CLIP-seq
MIRT1982761	hsa-miR-27a	CLIP-seq
MIRT1982762	hsa-miR-27b	CLIP-seq
MIRT2217638	hsa-miR-299-3p	CLIP-seq
MIRT2217639	hsa-miR-3147	CLIP-seq
MIRT2217640	hsa-miR-3652	CLIP-seq
MIRT2217641	hsa-miR-3977	CLIP-seq
MIRT2217642	hsa-miR-4253	CLIP-seq
MIRT2217643	hsa-miR-4265	CLIP-seq
MIRT2217644	hsa-miR-4296	CLIP-seq
MIRT2217645	hsa-miR-4322	CLIP-seq
MIRT2217646	hsa-miR-4417	CLIP-seq
MIRT2217647	hsa-miR-4425	CLIP-seq
MIRT2217648	hsa-miR-4430	CLIP-seq
MIRT2217649	hsa-miR-4492	CLIP-seq
MIRT2217650	hsa-miR-4498	CLIP-seq
MIRT2217651	hsa-miR-450b-3p	CLIP-seq
MIRT2217652	hsa-miR-4656	CLIP-seq
MIRT2217653	hsa-miR-4675	CLIP-seq
MIRT2217654	hsa-miR-4687-3p	CLIP-seq
MIRT2217655	hsa-miR-4709-3p	CLIP-seq
MIRT2217656	hsa-miR-4741	CLIP-seq
MIRT2217657	hsa-miR-4767	CLIP-seq
MIRT2217658	hsa-miR-502-5p	CLIP-seq
MIRT2217659	hsa-miR-513a-5p	CLIP-seq
MIRT2217660	hsa-miR-762	CLIP-seq
MIRT2217661	hsa-miR-769-3p	CLIP-seq
MIRT2387248	hsa-miR-1269	CLIP-seq
MIRT2387249	hsa-miR-1269b	CLIP-seq
MIRT2387250	hsa-miR-1288	CLIP-seq
MIRT2387251	hsa-miR-4515	CLIP-seq
MIRT2387252	hsa-miR-4740-5p	CLIP-seq
MIRT2387253	hsa-miR-4788	CLIP-seq

Show/Hide all (33)

Transcription factor	Regulation	Reference
AR	Activation	11556855;21613411
BCL3	Activation	17881446
BRCA1	Repression	21396117
CREBBP	Unknown	21464950
EGR1	Activation	11830539
ESR1	Unknown	12421825
HDAC1	Repression	22025675
HDAC3	Unknown	21464950
HOXB7	Activation	21690342
JUN	Activation	10803405
JUNB	Activation	10803405
KLF10	Repression	22025675
LRRFIP1	Repression	14522076
MTA1	Activation	11948399
NFKB1	Activation	17881446
NFKB1	Unknown	14678988
NR3C2	Activation	17692454
PGR	Unknown	22542550
PML	Repression	12673202;9819401
PPARG	Repression	15486348
RELA	Activation	17881446
SP1	Repression	18202149
SP1	Unknown	10830317;18575762;19538880;21464950
STAT1	Unknown	10558875;22693070
STAT3	Activation	21590492;23504318
TFAP2A	Unknown	8621697
TP53	Activation	10029407
TSG101	Repression	19154774
VDR	Repression	16087726
VDR	Unknown	15218361
WT1	Repression	9291179
YBX1	Activation	17875215;19648825
YY1	Activation	22580610

156

Show/Hide all (156)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	IEA
GO:0000165	Process	MAPK cascade	IEA
GO:0000166	Function	Nucleotide binding	IEA
GO:0000902	Process	Cell morphogenesis	IEA
GO:0001503	Process	Ossification	NAS	12925580
GO:0001618	Function	Virus receptor activity	IEA
GO:0001892	Process	Embryonic placenta development	IEA
GO:0001934	Process	Positive regulation of protein phosphorylation	IDA	20551055
GO:0001942	Process	Hair follicle development	IEA
GO:0003682	Function	Chromatin binding	IDA	20551055
GO:0003690	Function	Double-stranded DNA binding	NAS	6325948
GO:0004672	Function	Protein kinase activity	IEA
GO:0004709	Function	MAP kinase kinase kinase activity	NAS	15542601
GO:0004713	Function	Protein tyrosine kinase activity	IDA	2472218, 9890893, 17115032, 17599051
GO:0004713	Function	Protein tyrosine kinase activity	IEA
GO:0004713	Function	Protein tyrosine kinase activity	IMP	14702346, 20878056
GO:0004713	Function	Protein tyrosine kinase activity	TAS	16076471
GO:0004714	Function	Transmembrane receptor protein tyrosine kinase activity	IBA
GO:0004714	Function	Transmembrane receptor protein tyrosine kinase activity	IEA
GO:0004714	Function	Transmembrane receptor protein tyrosine kinase activity	TAS
GO:0004888	Function	Transmembrane signaling receptor activity	IDA	7736574
GO:0005006	Function	Epidermal growth factor receptor activity	IDA	12828935
GO:0005006	Function	Epidermal growth factor receptor activity	IDA	2176151, 11336639, 12435727, 17115032
GO:0005006	Function	Epidermal growth factor receptor activity	IEA
GO:0005006	Function	Epidermal growth factor receptor activity	IMP	22732145
GO:0005006	Function	Epidermal growth factor receptor activity	NAS	2790960, 6325948
GO:0005515	Function	Protein binding	IPI	2176151, 2790960, 7518560, 7542744, 7657591, 7685104, 7693694, 7797556, 7993895, 8034616, 8305738, 8621392, 8887653, 8940013, 9020117, 9050838, 9135143, 9355745, 9419975, 9506989, 9544989, 9852145, 10026169, 10229072, 10572067, 10805725, 11279102, 11896612, 12070153, 12297049, 1229705
GO:0005524	Function	ATP binding	IEA
GO:0005576	Component	Extracellular region	IEA
GO:0005615	Component	Extracellular space	NAS	9103388
GO:0005634	Component	Nucleus	IDA	12828935, 17115032, 20551055
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IDA	7588596, 12435727, 22298428
GO:0005768	Component	Endosome	IDA	16554368
GO:0005768	Component	Endosome	IDA	14702346, 17182860, 22732145
GO:0005768	Component	Endosome	IEA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005794	Component	Golgi apparatus	IDA
GO:0005794	Component	Golgi apparatus	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	11331309, 11336639, 15611079
GO:0005886	Component	Plasma membrane	IDA	15465819, 20462955, 22298428, 22732145
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0005925	Component	Focal adhesion	HDA	21423176
GO:0005929	Component	Cilium	IDA
GO:0007165	Process	Signal transduction	IDA	10572067
GO:0007165	Process	Signal transduction	IEA
GO:0007165	Process	Signal transduction	TAS
GO:0007166	Process	Cell surface receptor signaling pathway	IDA	7736574
GO:0007169	Process	Cell surface receptor protein tyrosine kinase signaling pathway	IEA
GO:0007173	Process	Epidermal growth factor receptor signaling pathway	IBA
GO:0007173	Process	Epidermal growth factor receptor signaling pathway	IDA	7736574, 8663461
GO:0007173	Process	Epidermal growth factor receptor signaling pathway	IDA	9890893, 12435727, 12828935, 24854121
GO:0007173	Process	Epidermal growth factor receptor signaling pathway	IEA
GO:0007173	Process	Epidermal growth factor receptor signaling pathway	IMP	8253073
GO:0007173	Process	Epidermal growth factor receptor signaling pathway	IMP	17655843, 18483258, 20878056
GO:0007173	Process	Epidermal growth factor receptor signaling pathway	TAS
GO:0007435	Process	Salivary gland morphogenesis	IEA
GO:0007611	Process	Learning or memory	ISS
GO:0008283	Process	Cell population proliferation	IEA
GO:0008284	Process	Positive regulation of cell population proliferation	IDA	7736574
GO:0008284	Process	Positive regulation of cell population proliferation	IEA
GO:0008284	Process	Positive regulation of cell population proliferation	IMP	27057632
GO:0008544	Process	Epidermis development	IEA
GO:0009925	Component	Basal plasma membrane	IBA
GO:0009986	Component	Cell surface	IDA	25666625
GO:0009986	Component	Cell surface	IEA
GO:0010008	Component	Endosome membrane	IDA	22719997
GO:0010008	Component	Endosome membrane	IEA
GO:0010008	Component	Endosome membrane	TAS
GO:0016020	Component	Membrane	IDA	12435727
GO:0016020	Component	Membrane	IEA
GO:0016301	Function	Kinase activity	IEA
GO:0016323	Component	Basolateral plasma membrane	IDA	12646923
GO:0016323	Component	Basolateral plasma membrane	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0019899	Function	Enzyme binding	IPI	12009895
GO:0019900	Function	Kinase binding	IPI	18722344, 22732145
GO:0019903	Function	Protein phosphatase binding	IPI	15899872, 28759036
GO:0021795	Process	Cerebral cortex cell migration	IEA
GO:0030054	Component	Cell junction	IDA
GO:0030139	Component	Endocytic vesicle	IEA
GO:0030182	Process	Neuron differentiation	IBA
GO:0030296	Function	Protein tyrosine kinase activator activity	IDA	2176151, 11336639
GO:0030307	Process	Positive regulation of cell growth	IDA	15467833
GO:0030335	Process	Positive regulation of cell migration	IMP	12435727, 25678558
GO:0030669	Component	Clathrin-coated endocytic vesicle membrane	TAS
GO:0031625	Function	Ubiquitin protein ligase binding	IPI	23418353
GO:0031901	Component	Early endosome membrane	IDA	17714434
GO:0031965	Component	Nuclear membrane	IEA
GO:0032587	Component	Ruffle membrane	IDA	11331309
GO:0032991	Component	Protein-containing complex	IDA	20878056
GO:0033138	Process	Positive regulation of peptidyl-serine phosphorylation	IMP	20878056
GO:0036064	Component	Ciliary basal body	IDA
GO:0038134	Process	ERBB2-EGFR signaling pathway	IDA	11336639
GO:0038134	Process	ERBB2-EGFR signaling pathway	IEA
GO:0042059	Process	Negative regulation of epidermal growth factor receptor signaling pathway	IEA
GO:0042059	Process	Negative regulation of epidermal growth factor receptor signaling pathway	TAS
GO:0042127	Process	Regulation of cell population proliferation	IEA
GO:0042177	Process	Negative regulation of protein catabolic process	IDA	17115032
GO:0042327	Process	Positive regulation of phosphorylation	IDA	15082764
GO:0042802	Function	Identical protein binding	IPI	16777603, 17148612, 18042729, 19563760, 19650109, 20007378, 20029029, 20359299, 21278786, 21480528, 21482778, 22232519, 22579287, 23273428, 23374349, 23436906, 23636329, 24135280, 28988771, 31980649, 35512704, 38572507
GO:0043066	Process	Negative regulation of apoptotic process	IBA
GO:0043066	Process	Negative regulation of apoptotic process	IMP	18070883
GO:0043235	Component	Receptor complex	IBA
GO:0043235	Component	Receptor complex	IDA	23382219
GO:0043235	Component	Receptor complex	IEA
GO:0043410	Process	Positive regulation of MAPK cascade	IBA
GO:0043410	Process	Positive regulation of MAPK cascade	IDA	24854121
GO:0043491	Process	Phosphatidylinositol 3-kinase/protein kinase B signal transduction	IMP	18483258
GO:0045121	Component	Membrane raft	IDA	12009895
GO:0045121	Component	Membrane raft	ISS
GO:0045296	Function	Cadherin binding	HDA	25468996
GO:0045739	Process	Positive regulation of DNA repair	IDA	17115032
GO:0045740	Process	Positive regulation of DNA replication	IDA	17115032
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	20551055
GO:0046718	Process	Symbiont entry into host cell	IEA
GO:0048146	Process	Positive regulation of fibroblast proliferation	IEA
GO:0048408	Function	Epidermal growth factor binding	IBA
GO:0048408	Function	Epidermal growth factor binding	IEA
GO:0048471	Component	Perinuclear region of cytoplasm	IEA
GO:0048471	Component	Perinuclear region of cytoplasm	IMP	24854121
GO:0048546	Process	Digestive tract morphogenesis	IEA
GO:0050673	Process	Epithelial cell proliferation	IEA
GO:0050679	Process	Positive regulation of epithelial cell proliferation	IBA
GO:0050679	Process	Positive regulation of epithelial cell proliferation	IDA	10572067
GO:0050679	Process	Positive regulation of epithelial cell proliferation	IEA
GO:0050679	Process	Positive regulation of epithelial cell proliferation	IEA
GO:0050730	Process	Regulation of peptidyl-tyrosine phosphorylation	IMP	12435727
GO:0051015	Function	Actin filament binding	IDA	14702346
GO:0051117	Function	ATPase binding	ISS
GO:0051205	Process	Protein insertion into membrane	TAS	12435727
GO:0051897	Process	Positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IMP	17655843
GO:0060571	Process	Morphogenesis of an epithelial fold	IEA
GO:0061029	Process	Eyelid development in camera-type eye	IEA
GO:0070141	Process	Response to UV-A	IDA	18483258
GO:0070374	Process	Positive regulation of ERK1 and ERK2 cascade	IDA	20551055
GO:0070374	Process	Positive regulation of ERK1 and ERK2 cascade	IEA
GO:0070374	Process	Positive regulation of ERK1 and ERK2 cascade	IMP	21673316
GO:0070435	Component	Shc-EGFR complex	ISS
GO:0071230	Process	Cellular response to amino acid stimulus	IEA
GO:0071363	Process	Cellular response to growth factor stimulus	IEA
GO:0071364	Process	Cellular response to epidermal growth factor stimulus	ISS
GO:0071392	Process	Cellular response to estradiol stimulus	IDA	20551055
GO:0090037	Process	Positive regulation of protein kinase C signaling	IDA	22732145
GO:0090263	Process	Positive regulation of canonical Wnt signaling pathway	IMP	20302655
GO:0097489	Component	Multivesicular body, internal vesicle lumen	IDA	17714434
GO:0097708	Component	Intracellular vesicle	IDA	11331309
GO:0098609	Process	Cell-cell adhesion	IMP	12435727
GO:1900087	Process	Positive regulation of G1/S transition of mitotic cell cycle	IMP	18483258
GO:1902895	Process	Positive regulation of miRNA transcription	IMP	21673316
GO:1903078	Process	Positive regulation of protein localization to plasma membrane	IDA	22732145
GO:1905208	Process	Negative regulation of cardiocyte differentiation	IMP	23069713

MIM	HGNC	e!Ensembl
131550	3236	ENSG00000146648

P00533

Protein name

Epidermal growth factor receptor (EC 2.7.10.1) (Proto-oncogene c-ErbB-1) (Receptor tyrosine-protein kinase erbB-1)

Protein function

Receptor tyrosine kinase binding ligands of the EGF family and activating several signaling cascades to convert extracellular cues into appropriate cellular responses (PubMed:10805725, PubMed:27153536, PubMed:2790960, PubMed:35538033). Known lig

PDB

1IVO , 1M14 , 1M17 , 1MOX , 1NQL , 1XKK , 1YY9 , 1Z9I , 2EB2 , 2EB3 , 2GS2 , 2GS6 , 2GS7 , 2ITN , 2ITO , 2ITP , 2ITQ , 2ITT , 2ITU , 2ITV , 2ITW , 2ITX , 2ITY , 2ITZ , 2J5E , 2J5F , 2J6M , 2JIT , 2JIU , 2JIV , 2KS1 , 2M0B , 2M20 , 2N5S , 2RF9 , 2RFD , 2RFE , 2RGP , 3B2U , 3B2V , 3BEL , 3BUO , 3C09 , 3G5V , 3G5Y , 3GOP , 3GT8 , 3IKA , 3LZB , 3NJP , 3OB2

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01030	Recep_L_domain	57 → 168	Receptor L domain	Repeat
PF00757	Furin-like	177 → 338	Furin-like cysteine rich region	Domain
PF01030	Recep_L_domain	361 → 481	Receptor L domain	Repeat
PF14843	GF_recep_IV	505 → 637	Growth factor receptor domain IV	Domain
PF07714	PK_Tyr_Ser-Thr	712 → 968	Protein tyrosine and serine/threonine kinase	Domain

Tissue specificity

TISSUE SPECIFICITY: Ubiquitously expressed. Isoform 2 is also expressed in ovarian cancers. {ECO:0000269|PubMed:17671655}.

Sequence

MRPSGTAGAALLALLAALCPASRALEEKKVCQGTSNKLTQLGTFEDHFLSLQRMFNNCEV
VLGNLEITYVQRNYDLSFLKTIQEVAGYVLIALNTVERIPLENLQIIRGNMYYENSYALA
VLSNYDANKTGLKELPMRNLQEILHGAVRFSNNPALCNVESIQWRDIVSSDFLSNMSMDF
QNHLGSCQKCDPSCPNGSCWGAGEENCQKLTKIICAQQCSGRCRGKSPSDCCHNQCAAGC
TGPRESDCLVCRKFRDEATCKDTCPPLMLYNPTTYQMDVNPEGKYSFGATCVKKCPRNYV
VTDHGSCVRACGADSYEMEEDGVRKCKKCEGPCRKVCNGIGIGEFKDSLSINATNIKHFK
NCTSISGDLHILPVAFRGDSFTHTPPLDPQELDILKTVKEITGFLLIQAWPENRTDLHAF
ENLEIIRGRTKQHGQFSLAVVSLNITSLGLRSLKEISDGDVIISGNKNLCYANTINWKKL
FGTSGQKTKIISNRGENSCKATGQVCHALCSPEGCWGPEPRDCVSCRNVSRGRECVDKCN
LLEGEPREFVENSECIQCHPECLPQAMNITCTGRGPDNCIQCAHYIDGPHCVKTCPAGVM
GENNTLVWKYADAGHVCHLCHPNCTYGCTGPGLEGCPTNGPKIPSIATGMVGALLLLLVV
ALGIGLFMRRRHIVRKRTLRRLLQERELVEPLTPSGEAPNQALLRILKETEFKKIKVLGS
GAFGTVYKGLWIPEGEKVKIPVAIKELREATSPKANKEILDEAYVMASVDNPHVCRLLGI
CLTSTVQLITQLMPFGCLLDYVREHKDNIGSQYLLNWCVQIAKGMNYLEDRRLVHRDLAA
RNVLVKTPQHVKITDFGLAKLLGAEEKEYHAEGGKVPIKWMALESILHRIYTHQSDVWSY
GVTVWELMTFGSKPYDGIPASEISSILEKGERLPQPPICTIDVYMIMVKCWMIDADSRPK
FRELIIEFSKMARDPQRYLVIQGDERMHLPSPTDSNFYRALMDEEDMDDVVDADEYLIPQ
QGFFSSPSTSRTPLLSSLSATSNNSTVACIDRNGLQSCPIKEDSFLQRYSSDPTGALTED
SIDDTFLPVPEYINQSVPKRPAGSVQNPVYHNQPLNPAPSRDPHYQDPHSTAVGNPEYLN
TVQPTCVNSTFDSPAHWAQKGSHQISLDNPDYQQDFFPKEAKPNGIFKGSTAENAEYLRV
APQSSEFIGA

Sequence length

1210

Interactions

View interactions

4643

Show/Hide Causal Diseases (14)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Cowden syndrome 1	Pathogenic	rs886037891	RCV000256393
EGFR-related lung cancer	Pathogenic; Likely pathogenic	rs1785702810, rs1787407972, rs748491031, rs1785628941, rs1166325650, rs1787409872, rs2128965518, rs1034084415, rs2128971690, rs2128958231, rs2128935161, rs776490661, rs2128951424, rs2128969953, rs2128968655 View all (34 more)	RCV001315475 RCV001324044 RCV001315217 RCV001349471 RCV001350939 RCV001348004 RCV001367318 RCV001363825 RCV001950696 RCV001992419 RCV001967377 RCV001958963 RCV002014890 RCV001926874 RCV002016203 RCV001960534 RCV001956085 RCV002006009 RCV001998103 RCV001849972 RCV002686081 RCV002820383 RCV002851315 RCV002881477 RCV002876392 RCV002913948 RCV003022506 RCV003046266 RCV003040387 RCV003039372 RCV003536070 RCV003536269 RCV003536255 RCV003536241 RCV003536481 RCV003536561 RCV003536886 RCV003649773 RCV003650941 RCV003650897 RCV003652484 RCV003653932 RCV003651660 RCV003651711 RCV003852327 RCV003875200 RCV001236060 RCV001246909 RCV001302655 RCV001307555 RCV001307449
Inflammatory skin and bowel disease, neonatal, 2	Pathogenic	rs606231253	RCV000144851
Lip and oral cavity carcinoma	Likely pathogenic	rs1786518484	RCV001255641
Lung adenocarcinoma	Pathogenic; Likely pathogenic	rs727504233, rs727504258, rs121913440, rs121913442, rs121913444, rs2535499036, rs397517100, rs2534769494, rs2128964427, rs1292517709, rs2128954790, rs121913438, rs1554350382, rs397517127	RCV003998240 RCV003998243 RCV003998241 RCV003998242 RCV000420876 RCV004009742 RCV004009743 RCV004009744 RCV004009745 RCV004009746 RCV004009747 RCV003996103 RCV000595622 RCV003996408
Lung cancer	Pathogenic	rs2534769431	RCV003326089
Malignant tumor of urinary bladder	Pathogenic	rs2128946294, rs2128964585, rs2128946276, rs2128958225	RCV003332958 RCV003332959 RCV003332981 RCV003332982
Neoplasm	Likely pathogenic; Pathogenic	rs727504258, rs121913438, rs121913428, rs121913465	RCV005229986 RCV005229814 RCV004668759 RCV004668760
Non-small cell lung carcinoma	Pathogenic; Likely pathogenic	rs28929495, rs397517086, rs121913428, rs397517094, rs397517098, rs397517106, rs121913465, rs397517108, rs397517111, rs397517112, rs397517114, rs397517116, rs1554350366, rs397517127, rs1584238193	RCV000038380 RCV000038375 RCV000038379 RCV000038381 RCV000038389 RCV000038393 RCV000038404 RCV000038407 RCV000038408 RCV000038413 RCV000038414 RCV000038416 RCV000038418 RCV000038419 RCV000038435 RCV000790622
Nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, somatic	Likely pathogenic; Pathogenic	rs121913438, rs28929495	RCV000018082 RCV000018086
Ovarian cancer	Likely pathogenic	rs140516819	RCV003154747
Squamous cell carcinoma of the head and neck	Likely pathogenic	rs28929495	RCV000114405
Thyroid cancer, nonmedullary, 1	Likely pathogenic	rs1166325650, rs2535549224	RCV005911179 RCV005928656
Tyrosine kinase inhibitor response	Pathogenic; Likely pathogenic	rs727504233, rs727504258, rs121913440, rs121913442, rs121913444, rs121913438	RCV000154199 RCV000154239 RCV000154231 RCV000154236 RCV000150630 RCV000154194

Show/Hide Unknown Diseases (30)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Adenocarcinoma of lung, response to tyrosine kinase inhibitor in, somatic	drug response	rs121434568	RCV000018084
Cerebral arteriovenous malformation	Conflicting classifications of pathogenicity	rs909905659	RCV000656335
Cerebral palsy	Conflicting classifications of pathogenicity	rs1444692842	RCV001796440
Cervical cancer	Benign; Likely benign	rs17336800	RCV005906975
Cholangiocarcinoma	Benign	rs2227983	RCV003311680
Clear cell carcinoma of kidney	Uncertain significance; Likely benign	rs753319070, rs140117937	RCV005912566 RCV005906988
Colon adenocarcinoma	Uncertain significance	rs778075962	RCV005913589
Diffuse midline glioma, H3 K27-altered	Conflicting classifications of pathogenicity; Uncertain significance	rs587778250, rs2128973145, rs35918369, rs182857647	RCV003313038 RCV003314259 RCV003315251 RCV003313173
Diffuse midline glioma, H3 K27M-mutant	drug response; -; Uncertain significance	rs727504263, rs1057519829, rs149840192, rs139236063, rs769696078, rs1554350381	RCV006253838 RCV006254506 RCV006253982 RCV006253985 RCV006254003 RCV006254005 RCV006253746
Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype	-; Uncertain significance; Conflicting classifications of pathogenicity	rs1057519829, rs149840192, rs139236063, rs1051753269, rs1554350381, rs397517126, rs567477136, rs1785212573	RCV006254505 RCV006253981 RCV006253984 RCV006254001 RCV006254004 RCV006253745 RCV006253747 RCV006254241 RCV006254264
EGFR-related disorder	Conflicting classifications of pathogenicity; Benign; Likely benign; Uncertain significance; drug response	rs199796955, rs17336988, rs775317295, rs149995949, rs762946118, rs772130986, rs138847501, rs747143752, rs143770509, rs45621033, rs372471129, rs764064214, rs778199483, rs544240809, rs759622671 View all (46 more)	RCV003938650 RCV003918873 RCV004753298 RCV003946060 RCV004753309 RCV003938748 RCV003965895 RCV003900637 RCV003946205 RCV004753347 RCV003956106 RCV003980449 RCV003956109 RCV004731159 RCV003966031 RCV003948556 RCV004753355 RCV003956133 RCV003956199 RCV003948540 RCV003948554 RCV003418350 RCV003913473 RCV003905146 RCV003975068 RCV003415924 RCV004753399 RCV003941270 RCV003403894 RCV003984273 RCV003391559 RCV004752879 RCV003970057 RCV004752710 RCV003894014 RCV003904558 RCV003902002 RCV003901377 RCV003937076 RCV003904927 RCV004753001 RCV003938208 RCV003948057 RCV003978095 RCV004753181 RCV004753182 RCV004753195 RCV003411967 RCV004753192 RCV004731085 RCV003396659 RCV004753188 RCV004753193 RCV003898199 RCV004753230 RCV003945920 RCV004753243 RCV003398985 RCV004753265 RCV003953643 RCV004753275
Endometrial carcinoma	Benign; Likely benign; not provided; Uncertain significance	rs104886012, rs104886014, rs104886026	RCV000119350 RCV000119352 RCV000119366
erlotinib response - Efficacy	drug response	rs121434569	RCV000211319
Familial cancer of breast	not provided	rs104886013	RCV000119351
Gastric cancer	Likely benign	rs148679319	RCV005912703
gefitinib response - Efficacy	drug response	rs121434568, rs121434569	RCV000211323 RCV001787805
Glioblastoma multiforme, somatic	-	rs1562805765, rs1562805773	RCV004813256 RCV004813255
Hepatocellular carcinoma	Benign	rs6970262	RCV005923755
Hereditary breast ovarian cancer syndrome	Uncertain significance	rs1249939049	RCV001374494
Hereditary cancer	Conflicting classifications of pathogenicity; Uncertain significance	rs150423237, rs144496976, rs149174093, rs773596817, rs200664836, rs17336639, rs143152775, rs764290273, rs1562783502, rs138193597, rs1215679186, rs1292517709, rs575565383, rs866928399, rs149248025 View all (5 more)	RCV000709010 RCV000709017 RCV000709022 RCV000709001 RCV000709003 RCV000709004 RCV000709006 RCV000709007 RCV000709009 RCV000709011 RCV000709012 RCV000709015 RCV000709016 RCV000709018 RCV000709019 RCV000709020 RCV000709023 RCV003492217 RCV003492230 RCV003492235
Hereditary cancer-predisposing syndrome	Conflicting classifications of pathogenicity; Uncertain significance; Likely benign; Benign; drug response	rs749433287, rs760228905, rs374986786, rs1794582450, rs1794781796, rs1271819892, rs1785138281, rs771929085, rs755972013, rs1178642122, rs377567759, rs751667594, rs577648478, rs768627073, rs1785823081 View all (999 more)	RCV005821969 RCV005330681 RCV005809536 RCV005550262 RCV005821975 RCV005550273 RCV005330702 RCV005550264 RCV004951543 RCV002258205 RCV005330690 RCV005330704 RCV005550266 RCV004035008 RCV004951544 RCV005821965 RCV005330697 RCV005550268 RCV005821974 RCV005550269 RCV002258203 RCV006391908 RCV004951549 RCV005550256 RCV005330680 RCV005330693 RCV005330687 RCV005330689 RCV005821966 RCV005330684 RCV005330677 RCV005809538 RCV005550265 RCV005330683 RCV005562689 RCV005550276 RCV005330691 RCV006391901 RCV005550267 RCV005330700 RCV004951512 RCV005330694 RCV004951519 RCV005550271 RCV005330713 RCV005330726 RCV006391932 RCV005809561 RCV005550291 RCV005330720 RCV005330723 RCV005550300 RCV005330738 RCV005330742 RCV005330712 RCV006391940 RCV005330737 RCV005330735 RCV005330741 RCV005821995 RCV005809562 RCV006391931 RCV006391943 RCV005550287 RCV006391926 RCV005550289 RCV005330732 RCV005550292 RCV005330725 RCV005821982 RCV006391930 RCV005330724 RCV005562708 RCV006391944 RCV005330714 RCV004951577 RCV005330729 RCV005330722 RCV005821998 RCV005550293 RCV005330718 RCV005330719 RCV005330711 RCV004951576 RCV002258220 RCV005822013 RCV005330768 RCV004951614 RCV005330783 RCV005822001 RCV005330773 RCV005809586 RCV005550311 RCV005562719 RCV005330758 RCV005550318 RCV005330761 RCV005330759 RCV005330774 RCV006391977 RCV005550312 RCV005550317 RCV004951605 RCV006391962 RCV002258221 RCV005330767 RCV005562731 RCV005330754 RCV005550323 RCV006391968 RCV005809583 RCV005330752 RCV005550316 RCV005550314 RCV005330779 RCV005550315 RCV005809588 RCV005822003 RCV005330766 RCV005550322 RCV004036975 RCV005330747 RCV005550320 RCV005330762 RCV005330765 RCV005330781 RCV005550313 RCV005330750 RCV005822008 RCV005330751 RCV005550310 RCV005330749 RCV005330764 RCV004951626 RCV005330757 RCV006391980 RCV005330804 RCV005330807 RCV005550334 RCV006391987 RCV006391992 RCV005330794 RCV005330802 RCV004951675 RCV004951686 RCV005550325 RCV005330790 RCV005330805 RCV004951713 RCV004951689 RCV004951707 RCV004951714 RCV005330806 RCV002258231 RCV004951695 RCV005822019 RCV004951698 RCV005330801 RCV004951696 RCV005562746 RCV005562738 RCV004951673 RCV004038129 RCV004616722 RCV004038149 RCV004951701 RCV004951708 RCV005330791 RCV004951687 RCV005330809 RCV002259115 RCV004951706 RCV005330836 RCV004951766 RCV004951738 RCV005330830 RCV005330838 RCV002258252 RCV006392000 RCV005330835 RCV005822021 RCV004951730 RCV002258250 RCV002258243 RCV004951753 RCV005330816 RCV005330823 RCV004951764 RCV002258249 RCV005330820 RCV005330833 RCV004951729 RCV005330819 RCV002258265 RCV005550349 RCV002258260 RCV005550350 RCV005550340 RCV005330840 RCV004951769 RCV006392003 RCV004951755 RCV005330832 RCV005330812 RCV002259123 RCV005330839 RCV005330821 RCV004951762 RCV004951737 RCV004951742 RCV005562757 RCV004951754 RCV005330825 RCV002258244 RCV005330824 RCV002258247 RCV004951722 RCV004038424 RCV005330817 RCV005330822 RCV005822022 RCV005330815 RCV002258259 RCV005330829 RCV004951757 RCV004951733 RCV004951744 RCV004951808 RCV005330852 RCV005330851 RCV002259129 RCV005550357 RCV006392023 RCV002258273 RCV005550358 RCV005330854 RCV005550365 RCV005330853 RCV005550360 RCV002258268 RCV006392012 RCV004951819 RCV005330855 RCV005550367 RCV005330857 RCV004951785 RCV005330843 RCV002258277 RCV002258269 RCV005550366 RCV004951810 RCV006392017 RCV004951817 RCV005550355 RCV005330847 RCV004038605 RCV005330844 RCV002258272 RCV004951818 RCV005550364 RCV005822023 RCV005330845 RCV005330841 RCV004951792 RCV004951786 RCV005822024 RCV004951823 RCV005330875 RCV005330871 RCV004946704 RCV004946694 RCV004946700 RCV002258284 RCV005330879 RCV004951824 RCV005330873 RCV005550370 RCV005330865 RCV005822028 RCV005564869 RCV004946692 RCV004946679 RCV004951830 RCV006392027 RCV006392034 RCV006392033 RCV005330866 RCV005330867 RCV005330874 RCV005550372 RCV005330864 RCV005822029 RCV005330872 RCV005550377 RCV002258286 RCV005330862 RCV005564862 RCV005809595 RCV004946671 RCV002259133 RCV002258293 RCV004946697 RCV005330861 RCV004946699 RCV004037275 RCV004037428 RCV004037391 RCV002259135 RCV004946686 RCV005330877 RCV004946687 RCV002259136 RCV005822031 RCV006392025 RCV004951831 RCV004946681 RCV002258295 RCV004946695 RCV005550375 RCV004946677 RCV004951829 RCV005330878 RCV004946710 RCV002258298 RCV002259139 RCV004946712 RCV004946709 RCV004946708 RCV004946711 RCV002258299 RCV005330882 RCV004946713 RCV004037945 RCV005550392 RCV005330905 RCV005330908 RCV005552421 RCV002444563 RCV004616957 RCV005552553 RCV005552610 RCV005330951 RCV005331054 RCV006396778 RCV005552502 RCV005552589 RCV005552590 RCV004946778 RCV005331078 RCV005331139 RCV005564955 RCV004946948 RCV005331087 RCV005331055 RCV002258333 RCV005331056 RCV005552587 RCV005331117 RCV006396885 RCV005811785 RCV005565070 RCV005331064 RCV005330956 RCV005822118 RCV005552522 RCV005331035 RCV005824140 RCV004948182 RCV005328210 RCV006392117 RCV005330976 RCV005331060 RCV005824155 RCV005331061 RCV005552565 RCV006396793 RCV005331017 RCV005331015 RCV005565103 RCV005822089 RCV002257418 RCV005549912 RCV004948189 RCV005328211 RCV002257419 RCV002257420 RCV002257421 RCV005328212 RCV004948190 RCV002258795 RCV002258796 RCV004948191 RCV004948192 RCV005822121 RCV005331016 RCV004946873 RCV005565048 RCV005552570 RCV005824208 RCV005330982 RCV006396757 RCV006396798 RCV006396760 RCV005824185 RCV005328214 RCV005330994 RCV004946809 RCV005330981 RCV005331020 RCV005824162 RCV005552547 RCV005552485 RCV005552518 RCV005331026 RCV005824186 RCV005552455 RCV005330950 RCV005809671 RCV005331076 RCV005824166 RCV004946787 RCV005565065 RCV005552582 RCV006392110 RCV005330966 RCV005330984 RCV005331025 RCV005552603 RCV005809644 RCV005331077 RCV005824190 RCV005824191 RCV005822115 RCV005330986 RCV006392196 RCV005552554 RCV005824188 RCV005565116 RCV002258331 RCV005331106 RCV002259147 RCV005552552 RCV005824214 RCV005552520 RCV006396817 RCV006396865 RCV006392143 RCV006392145 RCV006392146 RCV005552493 RCV005331100 RCV005331081 RCV005822084 RCV005565038 RCV005331135 RCV005824192 RCV005330992 RCV005552524 RCV005331144 RCV005552474 RCV005331057 RCV005331088 RCV005330990 RCV004946894 RCV005824138 RCV006396818 RCV005552436 RCV005565026 RCV005824218 RCV006396872 RCV005330957 RCV005552437 RCV005552631 RCV005822087 RCV004946985 RCV002258313 RCV005822074 RCV005330996 RCV005822127 RCV005824144 RCV004946765 RCV005331014 RCV005331125 RCV006392123 RCV005552526 RCV005330962 RCV005809676 RCV005552528 RCV005552499 RCV005331001 RCV005552442 RCV005330968 RCV005552467 RCV005330998 RCV005824148 RCV005331105 RCV005552619 RCV005330967 RCV005331006 RCV005564987 RCV005331042 RCV006392224 RCV005824153 RCV005824151 RCV005331080 RCV005552470 RCV004946906 RCV005824152 RCV005331053 RCV006396852 RCV005552599 RCV005330985 RCV005552549 RCV004946769 RCV005330933 RCV005552443 RCV005331051 RCV005824154 RCV006396777 RCV005552556 RCV005552446 RCV005552534 RCV005552562 RCV005552628 RCV004947055 RCV004948635 RCV006396904 RCV006396901 RCV006396933 RCV005824256 RCV006396924 RCV005824236 RCV004616999 RCV004947108 RCV005333189 RCV004616979 RCV005552668 RCV005333198 RCV004947151 RCV005552660 RCV005552637 RCV005333194 RCV005333190 RCV005333191 RCV004616977 RCV005333216 RCV004947101 RCV006396917 RCV005333196 RCV005333210 RCV004947122 RCV006396943 RCV005333183 RCV006396936 RCV005565139 RCV004947117 RCV005333214 RCV004947136 RCV005333192 RCV005552657 RCV005552670 RCV004616991 RCV004948648 RCV005824263 RCV005824251 RCV006396897 RCV005333202 RCV002258389 RCV004947114 RCV005333200 RCV005333174 RCV005552638 RCV005333195 RCV005552658 RCV005824237 RCV005333154 RCV005552655 RCV005333155 RCV005333156 RCV005333171 RCV005824244 RCV005333150 RCV005824250 RCV004947069 RCV004947071 RCV005333146 RCV005333157 RCV005824245 RCV005824249 RCV005552662 RCV006396919 RCV005565133 RCV005824254 RCV006396946 RCV004947079 RCV005333203 RCV005552656 RCV005824246 RCV005333180 RCV005552648 RCV005552651 RCV005552669 RCV005333213 RCV005565173 RCV004947124 RCV002258383 RCV005552634 RCV002258685 RCV002259273 RCV002258686 RCV002259274 RCV002258687 RCV002258689 RCV002258690 RCV002258691 RCV002258692 RCV002258693 RCV005549915 RCV006396974 RCV005552690 RCV005333245 RCV005552693 RCV005824286 RCV002373718 RCV005333445 RCV005552875 RCV005333500 RCV005333513 RCV005333504 RCV004949001 RCV005333509 RCV006381860 RCV005333525 RCV005333517 RCV005333530 RCV005554885 RCV005333538 RCV006381851 RCV005552899 RCV005333522 RCV005333529 RCV005333514 RCV005812064 RCV005824472 RCV005333536 RCV005812070 RCV005554908 RCV005333564 RCV005824488 RCV005554901 RCV005333558 RCV005333559 RCV005333554 RCV005811881 RCV005333252 RCV005824297 RCV005811893 RCV006396991 RCV005333257 RCV005824295 RCV005333253 RCV005333262 RCV005552701 RCV005333263 RCV004948720 RCV005811904 RCV005552723 RCV005333289 RCV005333297 RCV006397040 RCV005333287 RCV005333295 RCV005824319 RCV005333282 RCV005552738 RCV005552747 RCV005333307 RCV005333302 RCV006397052 RCV004948737 RCV006397059 RCV005824329 RCV005552756 RCV005333324 RCV005333322 RCV005552765 RCV005824345 RCV005333329 RCV005552766 RCV005333320 RCV005333321 RCV005552760 RCV005333327 RCV006397097 RCV005333335 RCV005811941 RCV006397118 RCV005824359 RCV005552780 RCV005552781 RCV005824352 RCV005333339 RCV005824358 RCV005824361 RCV005552770 RCV006397109 RCV005333348 RCV002257485 RCV006397130 RCV005565305 RCV005552788 RCV005552789 RCV005552796 RCV005333353 RCV005552793 RCV005552794 RCV005824365 RCV005333390 RCV006397165 RCV005333404 RCV006397193 RCV005552841 RCV005824409 RCV005333423 RCV005824411 RCV006397208 RCV005567357 RCV005552850 RCV005824416 RCV005333440 RCV005333442 RCV005552857 RCV005812110 RCV004948241 RCV004948239 RCV002257619 RCV004948240 RCV006381982 RCV005554946 RCV006382019 RCV006382021 RCV005554962 RCV005824547 RCV005554964 RCV006382041 RCV005333617 RCV005567536 RCV005567545 RCV006382053 RCV005333629 RCV006382055 RCV006382060 RCV005325747 RCV005567555 RCV005824566 RCV005554987 RCV005812169 RCV005325752 RCV005325753 RCV006382069 RCV006382070 RCV005824577 RCV005325760 RCV005325758 RCV005325759 RCV006382075 RCV005325763 RCV006382079 RCV005812173 RCV005325764 RCV005824581 RCV005554997 RCV005555002 RCV006382085 RCV006382086 RCV006382088 RCV005812179 RCV005325769 RCV006382087 RCV005824586 RCV005824587 RCV005824590 RCV005567581 RCV006382091 RCV005555006 RCV005555007 RCV005555005 RCV004950587 RCV005328250 RCV004948270 RCV004948271 RCV002257659 RCV004948273 RCV005325778 RCV006382114 RCV006382112 RCV004373959 RCV005824601 RCV005325786 RCV006382118 RCV005824600 RCV005555017 RCV005325789 RCV005824603 RCV006382127 RCV005325796 RCV005325807 RCV005325811 RCV005325800 RCV005325801 RCV005328251 RCV002257660 RCV006382142 RCV004948268 RCV004948269 RCV004948272 RCV005328249 RCV004948274 RCV005328252 RCV005328253 RCV004946915 RCV005826607 RCV005555045 RCV005826608 RCV005826612 RCV005567658 RCV006382178 RCV005555049 RCV005555050 RCV006382181 RCV005826613 RCV005826615 RCV005555058 RCV005325858 RCV005555071 RCV006382213 RCV005328198 RCV006382215 RCV001015308 RCV005325872 RCV005826634 RCV005567699 RCV005555076 RCV005826640 RCV006382227 RCV005826632 RCV005826639 RCV005325880 RCV005555082 RCV005826641 RCV005555075 RCV005325882 RCV004521346 RCV006389518 RCV005809276 RCV005809277 RCV006383853 RCV005328259 RCV002258997 RCV004948144 RCV005328202 RCV002257377 RCV004948145 RCV002257378 RCV004018872 RCV004948146 RCV005549907 RCV004948147 RCV004948148 RCV002257379 RCV005328203 RCV004948149 RCV002257380 RCV002257381 RCV002257925 RCV005328352 RCV004948564 RCV002259011 RCV004949880 RCV002259012 RCV004949881 RCV004949882 RCV005328368 RCV004949883 RCV005328369 RCV004949884 RCV005328370 RCV005328371 RCV002257952 RCV005328372 RCV005328373 RCV005821767 RCV004949885 RCV002257953 RCV002258000 RCV004950026 RCV002258002 RCV002258005 RCV005328451 RCV004950094 RCV004950095 RCV006387043 RCV002258025 RCV004950035 RCV004950032 RCV002258034 RCV004950037 RCV002258029 RCV002259053 RCV004950044 RCV004950047 RCV002258044 RCV004950046 RCV004950042 RCV005328441 RCV004950068 RCV004950075 RCV002258067 RCV002259064 RCV004950104 RCV005328458 RCV005328459 RCV005821851 RCV005328460 RCV005550084 RCV002258107 RCV004950227 RCV005821865 RCV004950181 RCV005328480 RCV004950232 RCV005550109 RCV004950180 RCV005328511 RCV005328495 RCV004950240 RCV005328516 RCV005328470 RCV005550097 RCV005328488 RCV005328517 RCV004950238 RCV004950222 RCV005328473 RCV006387098 RCV004950204 RCV005328524 RCV005328498 RCV005328528 RCV004950137 RCV005550125 RCV004950125 RCV005328509 RCV005328475 RCV004950162 RCV005328465 RCV005328518 RCV005328501 RCV005328527 RCV002259075 RCV005328485 RCV004950226 RCV005328472 RCV005550100 RCV005328513 RCV005328467 RCV002258128 RCV004950189 RCV004950135 RCV004950147 RCV004950230 RCV004950224 RCV005328491 RCV005550117 RCV004031592 RCV004950191 RCV002258106 RCV004950134 RCV005328497 RCV005550118 RCV002259077 RCV005328531 RCV005821869 RCV005550120 RCV005328479 RCV005328512 RCV005821879 RCV005550095 RCV002258090 RCV004030677 RCV004950185 RCV005550098 RCV005328496 RCV005550094 RCV005328483 RCV005328525 RCV005328522 RCV004950177 RCV005328526 RCV005328507 RCV005550101 RCV005328482 RCV005328468 RCV006387113 RCV005550119 RCV005550126 RCV005550188 RCV005550182 RCV004951352 RCV005328601 RCV005550191 RCV006387210 RCV005550183 RCV005328588 RCV005821919 RCV005550177 RCV005328583 RCV004950350 RCV002259089 RCV002258154 RCV005550179 RCV006387190 RCV005328573 RCV005328585 RCV002259088 RCV005550168 RCV005328586 RCV004950349 RCV005328579 RCV005328580 RCV004033892 RCV005328591 RCV005328587 RCV005328581 RCV005328592 RCV005328576 RCV005550165 RCV005328582 RCV004950331 RCV005328575 RCV005328589 RCV005328596 RCV005328593 RCV005328594 RCV006387188 RCV006387183 RCV005809481 RCV005328630 RCV005562630 RCV004951402 RCV005550193 RCV005550209 RCV004951395 RCV005328636 RCV004951387 RCV005328623 RCV006387227 RCV005328631 RCV005550215 RCV005328637 RCV005328635 RCV004951377 RCV005809486 RCV005328628 RCV004951376 RCV005562622 RCV005550213 RCV005550194 RCV005550211 RCV005328612 RCV005550204 RCV004951399 RCV004951414 RCV002258171 RCV005809478 RCV004951360 RCV005821938 RCV005328616 RCV004951370 RCV005328622 RCV005328633 RCV005550208 RCV005550199 RCV005550196 RCV005411689 RCV005328610 RCV005821931 RCV005821930 RCV005550216 RCV005328617 RCV005550210 RCV005328629 RCV005550206 RCV004951390 RCV002258169 RCV002259097 RCV005550207 RCV005328627 RCV005328646 RCV005821946 RCV005328649 RCV005328653 RCV005328660 RCV005550218 RCV005809490 RCV005328647 RCV002258174 RCV005328648 RCV002258170 RCV005328611 RCV005328659 RCV005821949 RCV004035595 RCV005328666 RCV002258180 RCV005550240 RCV005328690 RCV005550242 RCV005328670 RCV004951490 RCV005328669 RCV005328668 RCV005328676 RCV004951468 RCV006391857 RCV005328679 RCV005821956 RCV006391884 RCV005809516 RCV005328684 RCV005328681 RCV005328682 RCV005330675 RCV005328673 RCV005328672 RCV005562665 RCV005328677 RCV005550243 RCV005328675 RCV005550249
IDH-wildtype glioblastoma	-	rs149840192	RCV006253983
Lung carcinoma	drug response; Conflicting classifications of pathogenicity; Uncertain significance; Benign; Likely benign	rs397517085, rs147149347, rs864621996, rs142442994, rs121434568, rs1050171, rs397517128, rs148934350, rs397517138, rs375919121, rs758945260, rs144943614, rs952307505, rs1489158055, rs895139219 View all (9 more)	RCV000207006 RCV000206947 RCV000206923 RCV000332908 RCV000987885 RCV000206908 RCV000321080 RCV000206918 RCV000987884 RCV000987886 RCV000987872 RCV000987873 RCV000987878 RCV000987880 RCV000987883 RCV000987870 RCV000987871 RCV000987874 RCV000987875 RCV000987876 RCV000987877 RCV000987879 RCV000987881 RCV000987882 RCV000987887 RCV000987888
Malignant tumor of esophagus	Uncertain significance	rs760471492	RCV005923937
Nonpapillary renal cell carcinoma	Conflicting classifications of pathogenicity; Uncertain significance; Benign; Likely benign	rs774963273, rs2072454, rs17336800	RCV005922833 RCV005931758 RCV005906974
Ovarian serous cystadenocarcinoma	Uncertain significance; Likely benign; Benign	rs1484032303, rs2072454, rs758314765, rs17336800	RCV005924259 RCV005931759 RCV005934702 RCV005906977
Sarcoma	Benign; Likely benign; Conflicting classifications of pathogenicity	rs17336800, rs754578411	RCV005906976 RCV005908988
See cases	Uncertain significance; Conflicting classifications of pathogenicity	rs571613855, rs587778247, rs17289589	RCV002253189 RCV002252567 RCV002252310
Squamous cell carcinoma	Uncertain significance	rs1443442951, rs2534825523, rs528919345	RCV003129616 RCV003129637 RCV003129689
Squamous cell lung carcinoma	Benign; Conflicting classifications of pathogenicity	rs1050171, rs150036236	RCV001250942 RCV000677875

Show/Hide Text Mining Associations (875)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
3 Methylglutaconic Aciduria Type I	Associate	19686285
Achalasia Addisonianism Alacrimia syndrome	Associate	22431556
Acidemia isovaleric	Associate	33533191
Acne Vulgaris	Associate	34025636
Acquired ichthyosis	Associate	24691054, 36303457
Acquired Immunodeficiency Syndrome	Associate	21083371
Acrocephalosyndactylia	Associate	33592873
Acrospiroma	Associate	19252473
ACTH Secreting Pituitary Adenoma	Associate	35563252
Acute Coronary Syndrome	Associate	18664296
Acute Kidney Injury	Associate	33436543
Acute Lung Injury	Associate	36344490
Adenocarcinoma	Associate	10037277, 12377812, 1419612, 1457340, 15329413, 15956035, 16014883, 16052218, 16189154, 16521222, 16533793, 16552419, 16598760, 16731604, 16825506 View all (352 more)
Adenocarcinoma	Stimulate	26230859, 27322143, 28220630, 34234879, 36845145
Adenocarcinoma Bronchiolo Alveolar	Associate	16189154, 17409999, 17410000, 17591931, 17618248, 18161663, 18448997, 18978572, 19179908, 19844187, 20512074, 21422434, 22237264, 23287850, 25684509 View all (4 more)
Adenocarcinoma Follicular	Associate	1699752, 26617848
Adenocarcinoma in Situ	Associate	17618248, 23242438, 30797486, 31446140, 33706781, 36325966, 36578104, 37004157
Adenocarcinoma Mucinous	Associate	19479974, 21057220, 22732796, 24002608, 25813151, 26992209, 28940943, 29698701, 30298562, 30648815, 32747123
Adenocarcinoma Mucinous	Inhibit	25550848
Adenocarcinoma Of Esophagus	Associate	16521222
Adenocarcinoma of Lung	Associate	15696205, 15737014, 15851406, 15920544, 16049312, 16052218, 16189154, 16219624, 16533793, 16552419, 16619582, 16931592, 17045698, 17096850, 17189989 View all (905 more)
Adenocarcinoma of Lung	Inhibit	23709419, 28436422
Adenocarcinoma Papillary	Associate	23242438, 25550848, 28383802, 29090842
Adenoma	Associate	10686540, 21102417, 24287797, 25675982, 26037168, 26617848, 29149105, 34941983, 35260162, 35563252, 37482844
Adenoma	Stimulate	15098012
Adenoma Islet Cell	Inhibit	25277177
Adenoma Oxyphilic	Associate	22161775
Adenoma Pleomorphic	Associate	16552419, 20107421, 21626008, 26682906, 29675860, 35743969, 36115683, 36243681, 37614204
Adenomatous Polyposis Coli	Associate	26198262, 7793821
Adrenal Cortex Neoplasms	Associate	23139256, 23725124
Adrenocortical Adenoma	Associate	24457059
Adrenocortical Carcinoma	Associate	20693985, 24457059, 25078331, 35462410
Aicardi Syndrome	Associate	20824717
AIDS Arteritis Central Nervous System	Associate	35862191
Airway Obstruction	Associate	24126395
Albinism Oculocutaneous	Associate	19826477
Allan Herndon Dudley syndrome	Associate	36429891
Allergic Fungal Sinusitis	Associate	28398769
Alopecia	Associate	24691054
Alveolar Bone Loss	Associate	33917440
Alzheimer Disease	Associate	22801742, 24628925, 30026459, 31989994, 35715361, 37010714, 37819172, 39273172
Ameloblastoma	Associate	22300665, 24374844, 25099616, 25991665, 35484883
Amyloid Neuropathies	Associate	35715361
Amyotrophic Lateral Sclerosis	Associate	37682161
Anal Canal Carcinoma	Associate	20459770
Androgen Insensitivity Syndrome	Associate	28859123, 35641658
Anemia	Associate	35659581, 36253772
Aneuploidy	Associate	17643093, 21102417, 2372483, 24344012, 29335443, 34303217
Aneuploidy	Stimulate	20082448
Aneurysm	Associate	29165337
Angina Stable	Associate	19204206, 23559153, 29328373, 29516969, 35645132, 37723846
Anodontia	Associate	20579378, 28911955
Anophthalmia with pulmonary hypoplasia	Associate	22761868
Anorexia	Associate	34577852
Anus Neoplasms	Associate	24021343, 28126304, 29624161, 29700411
Apical Hypertrophic Cardiomyopathy	Stimulate	35674115
Apparent mineralocorticoid excess	Associate	32355271
Arsenic Poisoning	Associate	31864032
Arteriosclerosis	Associate	19840952
Arthritis	Associate	24385683
Arthritis Experimental	Associate	21107284
Arthritis Psoriatic	Associate	8980296
Arthritis Rheumatoid	Associate	17082220, 28173856, 28700691, 30091955, 32840301, 34918712
Ascites	Associate	22430797
Asthma	Associate	15502346, 15929951, 30478434, 35473352, 38375886
Asthma	Stimulate	15860714
Astrocytoma	Associate	10987838, 12569609, 1503912, 16133418, 17327574, 18507036, 18949739, 19127042, 19224764, 19603027, 19767728, 20639215, 21455841, 23595626, 23737970 View all (7 more)
Ataxia	Associate	36082650
Ataxia Telangiectasia	Associate	29849821
Atelosteogenesis type 2	Associate	34116229
Atherosclerosis	Associate	18664296, 34020127
Atresia of small intestine	Associate	26892442
Atrial Fibrillation	Associate	34938350
Atrophy	Associate	23107432
Atypical Squamous Cells of the Cervix	Associate	32367600
Autism Spectrum Disorder	Associate	27571009, 37108604
Azoospermia	Associate	36969237
Back Pain	Associate	24195468, 35365042
Bacterial Infections	Associate	17220369, 40275124
Barrett Esophagus	Associate	16521222, 16857803, 23273065, 25740071, 29991802, 35437997, 36604181
Basal cell carcinoma infundibulocystic	Stimulate	30864368
Basal Cell Carcinoma Nonsyndromic	Associate	25605142
Basaloid Follicular Hamartoma Syndrome Generalized Autosomal Dominant	Associate	26060045
Behcet Syndrome	Associate	23625463
Beta ketothiolase deficiency	Associate	32790013
Bicuspid Aortic Valve Disease	Associate	29165337
Bile Duct Neoplasms	Associate	36317517
Biliary Atresia	Associate	16739351
Biliary Tract Neoplasms	Associate	19201881, 19777609, 21087480, 22210086, 25217982, 32323774
Bipolar Disorder	Associate	18317468
Blood Coagulation Disorders	Associate	36174772
Bohring syndrome	Associate	28388586
Bone Diseases	Associate	19648884, 32747123, 39245880
Bone Diseases	Stimulate	29858031
Brain Diseases	Associate	24197981, 26469914, 31944608, 35088537, 35365042, 35857126, 36534728, 36596729, 40075375
Brain Injuries Traumatic	Associate	22543850
Brain Neoplasms	Associate	16097449, 1671751, 17867825, 19622585, 20031968, 20595147, 20604919, 20627894, 20730556, 22429330, 23129122, 23134665, 23180004, 24419416, 24679729 View all (71 more)
Brain Neoplasms	Inhibit	29110584
Brain Neoplasms	Stimulate	31882734
Breast Neoplasms	Associate	10903426, 10908152, 11087732, 11238942, 11484962, 11500850, 11692142, 11751923, 11796827, 11825114, 11859072, 11863114, 12031094, 12037031, 12134064 View all (415 more)
Breast Neoplasms	Inhibit	19307053, 25150698, 25826086, 38189813
Breast Neoplasms	Stimulate	19771133, 20385028, 21761335, 23082819, 24124521, 28629477, 30736768, 33340635, 9708917
Breast Neoplasms Male	Associate	19442295, 1949915, 22527098, 23308200, 27765917
Bronchial Diseases	Associate	12762344
Bronchiolitis Obliterans Syndrome	Associate	31665560
Bronchitis	Associate	23551418
Bronchitis Chronic	Associate	14988406
CADASIL	Associate	35641310, 35862191
Calcinosis	Associate	16900093
Calcinosis Cutis	Associate	15220376, 15335267, 15865067, 15920550, 17649779, 18822183, 19702827, 19935791, 23226389, 24285021, 24609222, 25781862, 26850068, 26892442, 27639677 View all (16 more)
Calcinosis Cutis	Inhibit	24653752, 30837448
Calcinosis Cutis	Stimulate	30833579
Cap Myopathy	Associate	18386291, 2478180
Carcinogenesis	Associate	10473632, 10686540, 11351043, 14520458, 15140260, 15365565, 1557402, 15867774, 16112910, 16505275, 16521222, 16619503, 16965395, 17533150, 17909029 View all (92 more)
Carcinogenesis	Stimulate	20424164
Carcinoid Tumor	Associate	15502346, 15920550, 16424381, 16612146, 23139256
Carcinoma	Associate	11786405, 11920518, 15305194, 17663798, 17671194, 17823122, 19224764, 20820870, 22523351, 23917679, 25563452, 26125777, 31776927, 33373269, 7977648, 8538164 View all (1 more)
Carcinoma Acinar Cell	Associate	32727606
Carcinoma Adenoid Cystic	Associate	18542074, 20824717, 21047402, 21320355, 23496982, 23942070, 27461660, 29109770, 29954240, 33172898
Carcinoma Adenoid Cystic	Stimulate	25997612
Carcinoma Adenosquamous	Associate	17186532, 17238183, 19563658, 22228640, 22896669, 22996376, 23037472, 23769878, 24351833, 26068980, 26923333, 27623437, 31221183, 32151507, 32367600 View all (7 more)
Carcinoma Adenosquamous	Stimulate	19270646
Carcinoma Basal Cell	Stimulate	18559090, 36737799
Carcinoma Basal Cell	Associate	18752048, 19434314, 23762360, 23873690, 25605142, 27285994, 28120452, 28388586, 30173251, 32382535, 35564692
Carcinoma Bronchogenic	Associate	25926253
Carcinoma Ductal	Associate	15649255, 16311351
Carcinoma Ductal Breast	Associate	15649255, 29937187
Carcinoma Embryonal	Associate	12783324, 16729016, 18660793
Carcinoma Endometrioid	Associate	19604315, 32994315
Carcinoma Hepatocellular	Associate	11355950, 16936701, 16937526, 17150109, 17583545, 17623837, 19145479, 19835603, 20856226, 21245850, 22210086, 22860012, 23220047, 23285165, 23785399 View all (60 more)
Carcinoma Hepatocellular	Inhibit	24886097, 31465839
Carcinoma Hepatocellular	Stimulate	34592904
Carcinoma in Situ	Associate	12762344, 16158937, 23927961
Carcinoma Intraductal Noninfiltrating	Associate	16528377, 22315424, 28634007, 30962452
Carcinoma Large Cell	Associate	16552419, 17238183, 21272159, 22836289, 23196793, 23518631, 23738762, 24351833, 25700797, 26430808, 26486077, 28768973, 30978501
Carcinoma Lobular	Associate	8254086
Carcinoma Merkel Cell	Associate	18408656, 28359267
Carcinoma Mucoepidermoid	Associate	23361279, 23933559, 24351833, 26575266, 33581505
Carcinoma Neuroendocrine	Associate	25700797, 28538405, 28768973, 30550363, 32762742, 35016432, 38591867
Carcinoma Non Small Cell Lung	Associate	10190311, 10761709, 14679115, 14679116, 14704124, 15015570, 15118073, 15365565, 15378500, 15611511, 15712203, 15728811, 15802268, 15851406, 15897464 View all (2428 more)
Carcinoma Non Small Cell Lung	Stimulate	16705311
Carcinoma Non Small Cell Lung	Inhibit	17409827, 19884854, 27457475, 30034220, 30049184, 30285266, 30704458, 33546082, 36705363, 36997606, 37187027, 37291860, 37907645, 37984347, 38054663
Carcinoma Ovarian Epithelial	Associate	11328410, 15571614, 17330838, 18182111, 18559505, 18628764, 24816687, 25520097, 26261554, 28009971, 28646172, 29996940, 31001917, 32660222, 36580004, 38250760 View all (1 more)
Carcinoma Pancreatic Ductal	Associate	16497872, 17726239, 18254976, 18505086, 20430737, 22045191, 22086503, 24048788, 25121413, 25679210, 26251290, 27187683, 27259358, 27391842, 28352075 View all (4 more)
Carcinoma Pancreatic Ductal	Stimulate	20473902, 26339400
Carcinoma Papillary	Associate	1699752, 23529321, 23917679, 26718882
Carcinoma Papillary	Stimulate	22161775
Carcinoma Renal Cell	Associate	11328410, 11720477, 12944410, 14520458, 15220376, 15956968, 16052341, 16158924, 17465216, 18928570, 19747398, 19884559, 21949687, 22025615, 22161775 View all (34 more)
Carcinoma Renal Cell	Stimulate	14520461
Carcinoma Small Cell	Associate	24422746, 24828667, 24986561, 26424310, 27488410, 28193529, 28723866, 28838401, 29317428, 30217489, 31063862, 31959344, 32179180, 35793695
Carcinoma Squamous Cell	Associate	11275796, 14708611, 14739904, 1503897, 15205458, 15365562, 15466396, 15692721, 15865067, 15920558, 16547470, 16582597, 16648870, 17186532, 17238183 View all (149 more)
Carcinoma Squamous Cell	Stimulate	21598042, 21819702, 7507302, 8679464
Carcinoma Squamous Cell	Inhibit	30837448
Carcinoma Transitional Cell	Associate	1712624, 1713019
Carcinoma Transitional Cell	Stimulate	30296252
Carcinosarcoma	Associate	14611676, 37530323, 37837329
Cardiomegaly	Associate	36046382
Cardiomyopathy Dilated 1l	Associate	36005198
Cardiomyopathy Dilated 1l	Inhibit	36005198
Cardiovascular Diseases	Associate	36146910, 37543587
Cartilage Diseases	Associate	24385683
Celiac Disease	Associate	21364874, 23966426, 24204586, 36611909
Cell Transformation Neoplastic	Associate	11087732
Cell Transformation Viral	Associate	39353908
Cementoma	Associate	20956971
Central Nervous System Diseases	Associate	19692934, 22733536, 24105277, 28376735, 33112047
Central Nervous System Infections	Associate	37678673
Central Nervous System Neoplasms	Associate	26681766
Cerebral Infarction	Associate	35140708, 35862191
Cerebral Small Vessel Diseases	Associate	35862191
Cerebrospinal Fluid Rhinorrhea	Associate	33122107
Cerulean cataract	Stimulate	11494118
Cerulean cataract	Associate	16648870, 8644846
Cheilitis glandularis	Stimulate	28285559
Chemical and Drug Induced Liver Injury	Associate	17106442, 29110841, 30139222
Chest Pain	Associate	24691054, 35343187
Cholangiocarcinoma	Associate	15855163, 16032426, 16846514, 18087285, 19414361, 20565817, 21472131, 21492330, 21673683, 22591401, 23139256, 23704979, 24186137, 24550739, 25815516 View all (13 more)
Cholelithiasis	Associate	17148666
Cholelithiasis	Inhibit	18285671
Cholesteatoma	Associate	14620675, 24311896
Cholesteatoma Middle Ear	Associate	14620675
Chondrosarcoma	Stimulate	24748236
Chondrosarcoma	Associate	26214645
Chordoma	Associate	20164240, 20670138, 23559153, 24621885, 28272674, 28753113, 30322893, 34550531, 35896603, 37024492
Choreoathetosis Hypothyroidism And Neonatal Respiratory Distress	Associate	29037198
Choriocarcinoma	Associate	12124830
Choriocarcinoma	Stimulate	20608935
Choroidal Effusions	Associate	35347923
Choroiditis	Associate	21738104
Chromosome 1q21.1 Deletion Syndrome 1.35 Mb	Associate	24986561
Chromosome 7 monosomy	Associate	21252859, 25611230
Chromosome Aberrations	Associate	17643093, 27578512
Chromosome Deletion	Associate	36622089
Cleft Lip	Associate	30411541
Cleft Palate	Associate	30411541
Cockayne Syndrome	Associate	24743307
Colitis Associated Neoplasms	Associate	39370253
Colitis Ulcerative	Associate	23825635, 33299870, 37960728, 39252247
Colonic Neoplasms	Associate	10686540, 12824187, 14742435, 16886596, 17264401, 18032824, 18700047, 19233916, 19584170, 19795022, 19997103, 23572025, 2365825, 24894453, 25987127 View all (7 more)
Colorectal Neoplasms	Associate	10362109, 12748850, 1419612, 14684586, 14742435, 14966913, 15010475, 15075253, 15143334, 15304500, 15832190, 15888451, 15908435, 15923435, 15980160 View all (469 more)
Colorectal Neoplasms	Stimulate	15598946, 17109495
Colorectal Neoplasms	Inhibit	20007841, 23173730, 24788807, 25568935, 25823645, 28432610, 28446505, 28593995, 28797274, 29703606, 35915157, 36779536, 36921693, 37628934
Colorectal Neoplasms Hereditary Nonpolyposis	Associate	35638907
Coma	Associate	34766562
Compassion Fatigue	Associate	25135958
Complement Component 7 Deficiency	Associate	24922009, 32384877
Congenital disorder of glycosylation type 1B	Associate	30559455, 32093629
Conjunctival Diseases	Associate	32833992
Conjunctival Neoplasms	Associate	20498858
Corneal Neovascularization	Associate	34587359, 35608132
Coronary Artery Disease	Stimulate	12869389
Coronary Artery Disease	Associate	29328373
Coronary Artery Disease	Inhibit	31886261
Coronary Disease	Associate	33849106
Corticobasal Degeneration	Associate	28271184
Cough	Associate	31779047
COVID 19	Associate	32497778, 32691695, 32805728, 34020127, 34045585, 34322810, 34931923, 35855804, 35938548, 36174772, 37936693
COVID 19	Stimulate	34135558, 35816430
Craniopharyngioma	Associate	25990246
Crazy paving pattern	Associate	17409892, 25361983, 31710020, 36029220
Cryptococcosis	Associate	36450693
Cryptogenic Organizing Pneumonia	Stimulate	23841084
Cystic Fibrosis	Associate	16928707, 18757521, 21193404, 29351448, 35412656
Cystic Fibrosis	Stimulate	32927759
Cysts	Associate	18587325
Cytokine Release Syndrome	Associate	23566546
Cytokine Release Syndrome	Stimulate	35491845
Deafness Autosomal Recessive 53	Stimulate	33925065
Death	Inhibit	15378500, 18453539
Death	Associate	17351259, 23154553, 24064329, 24285021, 25679210, 27160084, 27294665, 28446533, 32912174, 33831609, 34436667, 34706519, 34740925, 35292755, 36188649
Death	Stimulate	23775802
Degloving Injuries	Associate	26988277
Dementia	Associate	35327643, 37920971
Dental Caries	Associate	30352571
Dentigerous Cyst	Associate	23207846
Depressive Disorder	Inhibit	21807767
Depressive Disorder	Associate	31022775, 35870967, 37340599
Depressive Disorder Major	Inhibit	21807767
Dermatitis	Associate	27206134
Dermatitis Atopic	Associate	33289509
Dermatitis Contact	Associate	20981109
Dermatofibrosarcoma	Associate	22523339, 32956651
Desmoid disease hereditary	Associate	19242968
Developmental Disabilities	Associate	18505685
Diabetes Gestational	Associate	20144210, 26302821, 33890634
Diabetes Mellitus	Stimulate	27411924
Diabetes Mellitus	Inhibit	37182870
Diabetes Mellitus Type 1	Associate	33827531, 35650387, 36303457
Diabetes Mellitus Type 2	Associate	33212505, 34402100, 35222283
Diabetic Nephropathies	Associate	37789280
Diabetic Retinopathy	Associate	25997411, 40214234
Diarrhea	Associate	16052341, 17410005, 18309947, 20159991, 20621735, 26988277, 30512189, 32634610, 34577852, 35291829, 35343187, 35659581, 35798241, 36729110, 36813747 View all (4 more)
Diarrhea	Stimulate	38171775
Diarrhea 5 With Tufting Enteropathy Congenital	Associate	24201754
Diffuse Intrinsic Pontine Glioma	Associate	24076776, 33539525
Disease	Stimulate	17888028
Disease	Associate	19204206, 21157973, 23059777, 23407558, 24039221, 26790969, 27061536, 28843359, 29110716, 29516969, 32229189, 32581041, 33247670, 35201951, 35611637, 37096765, 37221352, 37914594, 9062361 View all (4 more)
Disease	Inhibit	30120912
Disease Progression	Stimulate	19850643
Disease Progression	Associate	23059777, 26262682, 26577492, 26790969, 27145431, 29516969, 30444875, 30927306, 32162810, 33203645, 37096765
Disease Progression	Inhibit	27381430, 35614407
Disorders of Sex Development	Associate	27255162
Disseminated Intravascular Coagulation	Associate	28730909
Dizziness	Associate	30851728, 32393286
DNA Virus Infections	Associate	31875360, 8128479
Donohue Syndrome	Associate	2808704
Doyne honeycomb retinal dystrophy	Associate	33909993
Drug Eruptions	Associate	25219648
Drug Hypersensitivity	Associate	20040267, 26186355
Drug Related Side Effects and Adverse Reactions	Associate	1512230, 19305165, 20159991, 20961434, 21740526, 22117530, 22389159, 22486600, 22986230, 22990204, 23036052, 23200832, 23213241, 2420787, 25227813 View all (18 more)
Drug Related Side Effects and Adverse Reactions	Inhibit	19305165, 25247711, 25383627, 27467256, 32577785, 35470756
Drug Related Side Effects and Adverse Reactions	Stimulate	34123574, 34290709
Drug Resistant Epilepsy	Associate	20925915
Duodenal Neoplasms	Associate	28794362
Duodenal Ulcer	Associate	9176072
Dyskinesias	Associate	19623652
Dysplastic Nevus Syndrome	Associate	20332305, 29966661, 31421471, 34402100, 36604181, 37817274
Dysplastic Nevus Syndrome	Stimulate	33274363
Dyspnea	Associate	29178024, 30817606, 35343086, 35343187, 36905787
Ectodermal Dysplasia	Associate	35563746
Edema	Associate	27578512
Embolism	Associate	27261103, 34107910
Emphysema	Associate	35081265
Endocarditis Non Infective	Associate	33752413, 37143409
Endocrine Gland Neoplasms	Associate	31182586
Endocrine System Diseases	Associate	22854050, 23039365, 37460683, 38160230
Endodermal Sinus Tumor	Associate	12783324
Endodermal Sinus Tumor	Stimulate	20608935
Endometrial Hyperplasia	Associate	17618248, 18448997, 19179908, 19844187, 20512074, 30121391, 32599981
Endometrial Neoplasms	Associate	15280405, 16140938, 1687493, 16905765, 18334972, 19088718, 19604315, 19917135, 20218740, 20564127, 20579378, 20664599, 22393970, 22540299, 22885469 View all (5 more)
Endometriosis	Associate	15749523, 25658832, 28187748, 31027056, 32762950, 9086334
Enhanced S Cone Syndrome	Associate	37770427
Enteritis	Associate	28953659, 35901658
Enterocolitis Necrotizing	Inhibit	22675459
Eosinophilic Esophagitis	Associate	35437997, 35839075
Ependymoma	Associate	20713864, 33085768
Epidermolysis Bullosa Dystrophica	Associate	31796084
Epidermolysis Bullosa Simplex	Associate	34643242
Epidermolysis bullosa with pyloric atresia	Inhibit	27164304
Erectile Dysfunction	Associate	30333254
Esophageal Achalasia	Associate	20163722
Esophageal and Gastric Varices	Associate	36264285
Esophageal Neoplasms	Inhibit	10037277
Esophageal Neoplasms	Associate	10908564, 16357520, 16425431, 16857803, 19136271, 20620594, 22555809, 23874846, 2420787, 25550802, 26681028, 27420968, 28777832, 29516969, 32068233 View all (8 more)
Esophageal Squamous Cell Carcinoma	Associate	17622245, 18405350, 20036807, 20534479, 22389159, 22450065, 22845557, 22870241, 23207070, 23232108, 23244191, 23274581, 23426935, 23874846, 24052437 View all (36 more)
Esophageal Squamous Cell Carcinoma	Stimulate	24131756
Esophageal Stenosis	Associate	34263613
Esophagitis	Associate	22870241, 35564692
Esthesioneuroblastoma Olfactory	Associate	29324814
Exanthema	Associate	16052341, 17409827, 20621735, 20961434, 22271877, 24691054, 30512189, 30540703, 30557370, 33153894, 34577852, 34953403, 35291829, 35659581, 35696748, 36813747, 38064607, 39739938 View all (3 more)
Exanthema	Stimulate	32788540, 33087401
Eyelid Neoplasms	Associate	28174788
Familial cylindromatosis	Associate	29884612
Familial paroxysmal dystonia	Associate	25180832
Farber Lipogranulomatosis	Associate	27046167
Fatigue	Associate	23980091, 28758857, 36905787, 38064607
Femoral Fractures Distal	Associate	26045851
Fetal Macrosomia	Associate	26302821
Fever	Inhibit	26654941
Fever of Unknown Origin	Associate	37922692
Fibrolamellar hepatocellular carcinoma	Associate	22872444, 28486549
Fibrosarcoma	Associate	35032896, 39577666
Fibrosis	Associate	15780084, 19535569, 23597419, 26064952, 28336963, 29247171, 34070150, 35176481, 35850069, 36174772, 37418274
Fibrosis	Stimulate	23841084
Fibrous Dysplasia Polyostotic	Associate	35348294
Focal cortical dysplasia of Taylor	Associate	30568293
Focal Nodular Hyperplasia	Stimulate	28947799
Focal Nodular Hyperplasia	Associate	32058355
Folate Malabsorption Hereditary	Associate	34445544
Folliculitis	Associate	30557370
Fractures Spontaneous	Associate	29849818
Gallbladder Neoplasms	Associate	18825277, 20961434, 25004291, 26320430, 27461681, 27644637, 29352306, 34171432, 34798839, 35196196, 38092180
Gallstones	Stimulate	17148666
Gallstones	Inhibit	18285671
Gallstones	Associate	26320430
Gardner Syndrome	Associate	26755002
Gastritis	Inhibit	12641822
Gastritis	Associate	34471638
Gastritis Atrophic	Inhibit	12641822
Gastro enteropancreatic neuroendocrine tumor	Associate	26684240
Gastroesophageal Reflux	Associate	27387915, 36092955
Gastrointestinal Diseases	Stimulate	17330838
Gastrointestinal Diseases	Associate	39739938
Gastrointestinal Neoplasms	Associate	16857803, 19331154, 24960403, 26059438
Gastrointestinal Stromal Tumors	Associate	17359542, 17643098, 19298600, 22654456, 25557174
Genetic Diseases Inborn	Associate	24346091
Gestational Trophoblastic Disease	Associate	9119881
Glaucoma Open Angle	Associate	29452408
Glioblastoma	Associate	10576656, 10645226, 10653004, 10764044, 11087732, 11092616, 11302335, 11302336, 11302337, 11351043, 11511795, 11550311, 11916499, 12754350, 14701753 View all (342 more)
Glioblastoma	Stimulate	15090567, 22794670, 27797218, 33892666
Glioblastoma	Inhibit	25277177, 25787115
Glioma	Associate	10595738, 11092616, 11770895, 15184909, 15197348, 15279711, 1557402, 1563013, 15701286, 16112910, 16212813, 16645215, 1693434, 17189383, 17226962 View all (140 more)
Glioma	Inhibit	33892666
Glioma of Brain Familial	Associate	21455841
Gliosarcoma	Associate	26045851, 26443480, 31073965, 34504233, 35381788
Gliosis	Inhibit	21468591
Glomerulonephritis IGA	Associate	32791747
Glomerulonephritis IGA	Stimulate	40214391
Glomerulonephritis Membranous	Inhibit	32094923
Glucosephosphate Dehydrogenase Deficiency	Associate	26366417
Glycogen Storage Disease IIIA	Associate	39732365
Glycogen Storage Disease IIIB	Associate	26047516, 30045314, 30253083, 33183013, 34116229, 35739536
Glycogen Storage Disease Type IV	Associate	25851627, 28538405, 35477147
Graft vs Host Disease	Associate	30425334
Granulosa cell tumor of the ovary	Associate	12796025
Graves Ophthalmopathy	Associate	40299971
Growth Factors Combined Defect of	Associate	33260345
Guillain Barre Syndrome	Associate	34763483
Hamartoma Syndrome Multiple	Associate	27900366, 28320414
Hamman Rich Syndrome	Associate	28446533
Hand Foot Syndrome	Associate	37723837
Head and Neck Neoplasms	Associate	10206306, 11920518, 11986789, 12915878, 15205458, 15829495, 16510606, 17189989, 17431120, 18316548, 18507008, 18832597, 19074873, 19568408, 20237991 View all (51 more)
Head and Neck Neoplasms	Stimulate	11875748, 39369912
Head and Neck Neoplasms	Inhibit	25563452
Headache	Associate	34766562, 37463768
Hearing Loss Noise Induced	Associate	33242228
Heart Arrest	Associate	35343187
Heart Diseases	Associate	22732799, 24691054, 31315351, 34402100
Heart Failure	Associate	23975515, 31419239, 37092838
Helicobacter Infections	Associate	12641822
Helicobacter Infections	Stimulate	9176072
Hemangioblastoma	Associate	20730556, 26768750, 7639324
Hematologic Neoplasms	Associate	11843246
Hematuria Benign Familial	Stimulate	12915878
Hemoptysis	Associate	35343086
Hemorrhage	Associate	20708924, 22294255
Hepatitis B	Associate	16936701, 19434314, 27472239
Hepatitis B	Stimulate	19442295
Hepatitis C	Associate	27137988, 28507206, 30782931
Hepatitis E	Associate	26369702
Hepatoblastoma	Associate	27910913
Hereditary Angioedema Type III	Inhibit	19423651
Hereditary Breast and Ovarian Cancer Syndrome	Associate	15480434, 16238103, 17164758, 17369752, 17598908, 17663798, 18505086, 18698037, 21574647, 22523339, 26580964, 27488410, 28775148, 28947780, 30139236, 30394935, 35290621, 36916425 View all (3 more)
Hereditary Breast and Ovarian Cancer Syndrome	Stimulate	35865143
Hereditary leiomyomatosis and renal cell cancer	Associate	1936340
Heredodegenerative Disorders Nervous System	Associate	36183486
Herpes Zoster	Associate	34322810
Histiocytoma Malignant Fibrous	Associate	15154665, 15254554, 15274392, 19940402
HIV Infections	Associate	20498858, 34714196
Huntington Disease	Associate	22974559
Hydatidiform Mole	Associate	11737472, 22684234
Hydrothorax	Associate	25635424, 35365042
Hyperandrogenism	Associate	32289280
Hyperglycemia	Associate	35526510
Hyperimmunoglobulin G1(A1) Syndrome	Associate	26247526
Hyperplasia	Associate	14988406, 21505178, 27709733, 3182322, 36867212, 37340599
Hypersensitivity	Associate	20195171
Hypersensitivity Immediate	Associate	20579378, 30872465, 40157900
Hypersensitivity Immediate	Inhibit	29701925
Hypertension	Associate	33410885, 33635564, 35524294, 36862882
Hypertension Pulmonary	Associate	25925667, 29845760, 35674115
Hypertrophy	Associate	14988406, 24554716
Hypesthesia	Associate	28758857, 31088573
Hypogonadism	Associate	30098700
Hypokalemia	Associate	35659581
Hypopharyngeal Neoplasms	Associate	22452803, 30365065
Hypoxia	Stimulate	17425591, 17670948, 20395290, 20861305, 23185433, 28038470, 28330951, 29123322, 29845760, 30487162, 31776131, 35634326, 35674115, 40244269
Hypoxia	Associate	20942457, 21966417, 22411794, 22420963, 22863020, 23589494, 23636329, 23696831, 23867129, 25860915, 26032726, 26207380, 26467103, 27625398, 27802455 View all (11 more)
Hypoxia Brain	Stimulate	17670948, 20395290, 23185433, 37377902
Hypoxia Brain	Associate	22420963, 23636329, 26849233, 28188223, 28330951, 28801308, 29845760, 29866927, 32823915, 34290709, 35674115
Ichthyosis	Associate	1532884
Idiopathic Noncirrhotic Portal Hypertension	Associate	30864368
Idiopathic Pulmonary Fibrosis	Stimulate	23841084
Idiopathic Pulmonary Fibrosis	Associate	27350261, 30810067, 32426915, 34315881
Idiopathic Pulmonary Fibrosis	Inhibit	27575421
Immune dysfunction with T cell inactivation due to calcium entry defect 1	Associate	36154925
Immune System Diseases	Associate	35241046
Immunoglobulin G4 Related Disease	Associate	33775999
Immunologic Deficiency Syndromes	Associate	35839075
Infections	Associate	18276593, 27223085
Infectious Mononucleosis	Associate	36154925
Infertility	Associate	32289280, 36303457
Inflammation	Associate	15929951, 17148666, 17977827, 18276593, 18664296, 20962773, 22693070, 22952984, 23688423, 24082147, 24268047, 24434780, 24691054, 24978309, 25684939 View all (22 more)
Inflammation	Stimulate	16932740, 32927759
Inflammatory Bowel Diseases	Associate	22301110, 26787018
Inflammatory Breast Neoplasms	Associate	17351259, 17700572, 19902352, 20406946, 20503407, 21360074, 21559822, 23280128, 23647160, 26821068, 28270211, 28426875, 29879283, 30086764, 37048158
Influenza Human	Associate	23731466
Insulin Resistance	Associate	32651353, 36411648
Intervertebral Disc Degeneration	Associate	24173697
Intestinal Diseases	Associate	7819044
Intestinal Neoplasms	Associate	37306349
Intestinal Perforation	Associate	22606320
Intracranial Arterial Diseases	Associate	35201951
Intrahepatic Cholestasis of Pregnancy	Associate	35643225
Keratoconus	Associate	31467338
Keratoderma Palmoplantar	Associate	36116508
Keratosis Actinic	Associate	20156290
Keratosis Seborrheic	Associate	1532884, 20064244, 21078999
Kidney Diseases	Associate	15780084, 26064952, 31419239, 34501555
Kidney Failure Chronic	Associate	23468851, 28537806, 29164298, 31906817
Kidney Neoplasms	Inhibit	17465216
Kidney Neoplasms	Associate	19603096, 20359967, 24652385, 25789858, 30770799, 30941984, 31672701, 32413049, 34399807, 36933996, 39780215
Kininogen Deficiency High Molecular Weight and Low Molecular Weight	Associate	15832192
Laryngeal Neoplasms	Associate	10096253, 23775802, 23867129, 25008564, 25736926, 29938470
Laryngeal Web Familial	Associate	19673037
Lead Poisoning	Associate	34501555
Leigh syndrome French Canadian type	Associate	25692143
Leiomyoma	Associate	15749523, 1936340, 31468104
Leiomyoma of vulva and esophagus	Associate	22252115
Leiomyosarcoma	Associate	15772959, 23334251, 29295562
Leukemia	Associate	26633023
Leukemia Lymphocytic Chronic B Cell	Associate	22479527, 26870997, 28346673
Leukemia Myelogenous Chronic BCR ABL Positive	Associate	21501493, 22511990, 23806289, 27196940
Leukemia Myeloid Accelerated Phase	Associate	23867129
Leukemia Myeloid Acute	Associate	23974111, 26744873, 27488458, 29781401, 32587297, 34193978, 37629110
Leukemia Plasma Cell	Associate	35610009
Leukemia Promyelocytic Acute	Associate	32755558
Leukoencephalopathies	Associate	35862191
Leukoencephalopathies	Stimulate	38054663
Leukopenia	Associate	37557185
Leukoplakia	Associate	23492901, 29516925
Leukoplakia Oral	Associate	23492901, 35488777
Li Fraumeni Syndrome	Associate	24835218, 32179180
Lichen Planus Oral	Associate	24880441
Lichenoid Eruptions	Associate	24880441
Lipoma	Associate	37194849
Liposarcoma Myxoid	Associate	20522586
Liver Diseases	Associate	24186137, 27336603, 29807405, 30139222
Liver Failure	Associate	23114924, 30139222, 34235224
Liver Failure	Stimulate	23867504
Liver Neoplasms	Associate	24886097
Long QT Syndrome	Associate	35798241
Long Qt Syndrome 3 6	Associate	28006816
Lown Ganong Levine Syndrome	Associate	18000506, 18191993, 18701186, 32285618, 33548986, 35607295
Lung Diseases	Associate	20975376, 23787800, 23922022, 25219648, 26823294, 27072258, 27580550, 27625398, 28188223, 28387300, 30109777, 30342483, 30872465, 32367600, 33080701 View all (10 more)
Lung Diseases	Inhibit	30837448
Lung Diseases Interstitial	Stimulate	21791074, 23592411, 23841084, 29327061
Lung Diseases Interstitial	Associate	24819665, 25669832, 27350261, 28221867, 28794368, 29936470, 30192383, 30506897, 31584970, 32374485, 32927121, 32999231, 34807270, 35798241, 36049654, 36890493, 37169657, 37991747 View all (3 more)
Lung Injury	Associate	38228746
Lung Neoplasms	Associate	10471051, 10823420, 12077147, 14739904, 15118073, 15258328, 15329413, 15737014, 15841079, 15870831, 16049312, 16052218, 16329133, 16334162, 16357520 View all (823 more)
Lung Neoplasms	Inhibit	24662823, 24908424, 37187027, 37898846
Lung Neoplasms	Stimulate	25640358, 28974261
Lupus Erythematosus Systemic	Associate	37072752
Lupus Nephritis	Associate	36335193
Lymphangioleiomyomatosis	Associate	36231025
Lymphangitis	Associate	30516345
Lymphatic Metastasis	Associate	10096253, 15712203, 16963112, 17211865, 18316548, 18473353, 19331236, 19487967, 20062009, 20181250, 20430737, 21276138, 21414214, 22086503, 22126484 View all (36 more)
Lymphatic Metastasis	Stimulate	15598946, 18087285, 18505086, 18700025, 22537942, 23220854, 23608326, 24052437, 24131756, 26099724, 27488595, 29665129, 35241559
Lymphatic Metastasis	Inhibit	20096104
Lymphedema Hereditary IB	Associate	36085020
Lymphoblastic Transformation Inhibition of	Inhibit	36117171
Lymphoma	Associate	35806064
Lymphoma B Cell	Associate	22231447, 33627783, 35806064
Lymphoma Follicular	Associate	36918771
Lymphoma Large B Cell Diffuse	Associate	32186759
Lymphoma Large Cell Anaplastic	Associate	34654390
Lymphoma Mantle Cell	Associate	16052218, 29973234
Lymphoma Non Hodgkin	Stimulate	18519768, 27559738
Lymphoma Non Hodgkin	Associate	22203921, 24885312, 26755002, 27977780, 28187748, 35332092, 35563452, 36720762, 39684714
Lysosomal Storage Diseases	Associate	22259051
Macular Edema	Stimulate	16311351
malar rash	Associate	39327682
Malignant mesenchymal tumor	Associate	15254554
Mallory Weiss Syndrome	Stimulate	20620594
Mammary Analogue Secretory Carcinoma	Associate	31502214
Mammary Neoplasms Animal	Associate	20424164, 2687875, 27569656, 3034598
MASS syndrome	Associate	26045851
Mastocytosis Systemic	Associate	35491845
Maxillary Sinus Neoplasms	Associate	20961443
Medulloblastoma	Associate	16097449, 17039417, 19417143, 23762360, 24986561, 25052069, 26496080
Melanoma	Associate	11494118, 15580309, 16116595, 19213840, 20216471, 21078678, 21738104, 22249266, 23444215, 24200969, 24709886, 25243790, 25339196, 25742786, 25749811 View all (25 more)
Melanoma Cutaneous Malignant	Associate	25243790, 34087900
Meningeal Carcinomatosis	Associate	1739615, 17917328, 19596957, 23804027, 26334749, 27580550, 30851728, 30943730, 31910497, 31929495, 33112047, 34240806
Meningeal Neoplasms	Associate	21610522, 25247337, 29604399, 31777268, 32616581, 32634610, 32711494, 37591896, 38227738, 40439479
Meningioma	Associate	19940402, 20509969, 22623992, 24608452, 30594554, 31077268
Mental Disorders	Associate	34766562
Mesothelioma	Stimulate	14692808
Mesothelioma	Associate	16077404, 20942962, 2372497, 24762959, 36471440, 7947089
Mesothelioma Malignant	Associate	14692808, 15756029, 15867774, 16077404, 16206294, 19781955, 20122271, 20942962, 21124760, 21774103, 21970874, 23558893, 2372497, 30499112, 31752449, 36683050 View all (1 more)
Metaplasia	Associate	28731047
Microsatellite Instability	Associate	23565769, 32264863, 35474354
Microsatellite Instability	Stimulate	28591715
Microsatellite Instability	Inhibit	31924107
Mitochondrial Diseases	Associate	36999607
Monoclonal Gammopathy of Undetermined Significance	Associate	30134812
Mouth Diseases	Associate	17096152, 18379350, 21990607, 35488777
Mouth Diseases	Stimulate	20332305
Mouth Neoplasms	Associate	12915878, 16007067, 16799709, 18347929, 20302655, 20332305, 20570883, 21304522, 22825335, 23806066, 24412287, 24928086, 25029526, 25799278, 26462152 View all (9 more)
Mucocutaneous Lymph Node Syndrome	Associate	30654760
Mucopolysaccharidosis III	Associate	34750392
Mucopolysaccharidosis IV	Associate	40439479
Multiple Myeloma	Associate	14576062, 15735670, 16732320, 22359328, 25894462, 26496024, 27246973, 28492226, 34592762
Multiple Pulmonary Nodules	Associate	20087229, 29247171
Multiple Trauma	Associate	27246973
Myasthenia Gravis	Stimulate	7629292
Myeloproliferative Disorder Chronic with Eosinophilia	Associate	23018906, 28618947
Myocardial Infarction	Associate	29328373
Myocardial Ischemia	Associate	22732799
Myoepithelioma	Associate	32505185
Myofibrillar Myopathy	Associate	34830320
Myopia	Associate	35586671
Myotonia with Skeletal Abnormalities and Mental Retardation	Associate	26790969
Myotonic Dystrophy	Associate	30130447, 36230978
Myxoma	Associate	26563368
Nasal Polyps	Associate	27285994, 29746583
Nasopharyngeal Carcinoma	Associate	10665644, 15796181, 17881446, 19756373, 21388911, 24499623, 25536598, 25963410, 27671677, 28256603, 28581676, 29582644, 29973197, 33875643, 34268932 View all (6 more)
Nasopharyngeal Carcinoma	Stimulate	7769701
Nausea	Associate	38064607
Necrosis	Associate	23619604
Nemaline myopathy 5	Associate	29849818, 32790013
Neoplasm Invasiveness	Associate	16424897, 18379350, 20473902, 24551297, 32616581, 3426916, 37121213, 7819039
Neoplasm Metastasis	Associate	10556937, 10985391, 14706341, 15073595, 15220376, 15335267, 15802268, 15867774, 16007067, 16619582, 16739351, 16865406, 17541441, 17579627, 18166836 View all (333 more)
Neoplasm Metastasis	Stimulate	11494118, 17607370, 23867504, 24052437, 29858031, 31129149, 36572759, 40604601
Neoplasm Metastasis	Inhibit	17465216, 23558893, 25057166, 30679310, 36284372, 36862005
Neoplasm Recurrence Local	Associate	23174717, 36149029, 37248810
Neoplasm Residual	Associate	34798865
Neoplasms	Associate	10037277, 10096969, 10190311, 10214946, 10329596, 10436007, 10645226, 10888627, 10908564, 10995035, 11000224, 11087732, 11116146, 11226409, 11302336 View all (1997 more)
Neoplasms	Inhibit	11546792, 18304967, 18650488, 22847020, 23633104, 23991224, 25106647, 25158139, 25417703, 25758528, 27761967, 29580950, 29899551, 30075033, 30462160 View all (9 more)
Neoplasms	Stimulate	16082192, 19145479, 19525925, 20151982, 20424164, 20620594, 20693797, 20820870, 21431872, 22493441, 23167414, 23370473, 23785399, 23942070, 24321281 View all (28 more)
Neoplasms Basal Cell	Associate	7819052
Neoplasms by Histologic Type	Associate	35641204
Neoplasms Cystic Mucinous and Serous	Associate	11371228, 12377812, 19272638, 20495538, 26254613
Neoplasms Germ Cell and Embryonal	Associate	12124830, 12796025, 28320414
Neoplasms Glandular and Epithelial	Associate	25219648, 34031426, 38591867
Neoplasms Mesothelial	Associate	14692808
Neoplasms Multiple Primary	Associate	21102417
Neoplasms Nerve Tissue	Associate	30689692
Neoplasms Second Primary	Associate	36717819
Neoplasms Squamous Cell	Associate	15253134, 15986037, 16023108, 17283074, 20635059, 22825335, 2372483, 23827819, 25348872, 25348954, 25886585, 27092882, 28859471, 29143497, 29914238 View all (9 more)
Neoplasms Unknown Primary	Associate	21598042, 29443782, 29973234
Neoplastic Syndromes Hereditary	Associate	24736066
Neovascularization Pathologic	Associate	38087190
Nephritis Interstitial	Stimulate	40214391
Nephroma Mesoblastic	Associate	29915264, 35032896
Nephrosis Lipoid	Associate	27165055
Netherton Syndrome	Stimulate	27353319
Neural crest tumor	Associate	27438149
Neuralgia	Associate	26475804, 33771774, 36116508
Neuroblastoma	Associate	18927293, 19414383, 21225506, 21268077, 22990745, 25756510, 26687764, 27216155, 27353319, 30964607, 31475882, 35008802, 35563171
Neuroectodermal Tumors Primitive	Associate	24986561
Neuroendocrine Tumors	Associate	15920550, 23676460, 28538405, 30896637, 35609408, 36307041, 38086335
Neurofibromatosis 1	Associate	34948100
Neurofibromatosis 2	Stimulate	20511180
Neurofibrosarcoma	Associate	17558420, 18448562, 18650488, 18927496, 19246520, 22222570, 22259051, 24341609, 25189642, 37837931
Neurofibrosarcoma	Stimulate	34948100
Neuroma Acoustic	Associate	18670322, 20511180, 21659924, 22222570
Nevus	Associate	35793695
Nevus Pigmented	Associate	1629628, 7963661
Niemann Pick Disease Type C	Associate	35778755
Non alcoholic Fatty Liver Disease	Associate	26845596
Non functioning pancreatic endocrine tumor	Associate	15920550
Non Muscle Invasive Bladder Neoplasms	Associate	19171060, 21308147, 24631944, 27438149, 27626805, 32978523, 33024200, 36737799
Nonseminomatous germ cell tumor	Associate	12796025
Nonsyndromic Holoprosencephaly	Associate	33428063
Obesity	Associate	35027437
Oculocutaneous albinism type 2	Inhibit	19088718
Oculocutaneous albinism type 2	Associate	32340810
Odontogenic Tumors	Associate	21053110
Oligodendroglioma	Stimulate	18507036
Oligodendroglioma	Associate	18544654, 19934553, 21839716
Oligomenorrhea	Associate	32289280
Oligospermia	Associate	8174734
Oncogene Addiction	Associate	29133945
Optic Nerve Glioma	Associate	18234969, 7917918
Organizing Pneumonia	Associate	32999231
Oropharyngeal Neoplasms	Associate	17121883, 17848274, 18474878, 20647773, 22907805, 26949921, 29232380, 30289952, 30414263, 31187548, 33428063, 37081578
Osteoarthritis	Associate	31886203
Osteoarthropathy Primary Hypertrophic	Associate	38358227
Osteoporosis	Associate	26914116, 32620113, 36755691, 38509680
Osteoporotic Fractures	Stimulate	36755691
Osteosarcoma	Associate	16007579, 17184803, 18704985, 25227664, 25551557, 26526352, 29617357, 29751634, 31960764, 33432347, 33917440, 33960631, 34335109, 40676084
Otitis Media	Inhibit	23576001
Otitis Media	Associate	31882485
Ovarian Diseases	Associate	32762950, 37598177, 37883761, 9701727
Ovarian Neoplasms	Associate	10098742, 1457340, 15571614, 15599381, 16554736, 16983702, 17179151, 17433065, 17475671, 17595771, 18182111, 18191993, 18519753, 18559505, 18628764 View all (78 more)
Ovarian Neoplasms	Stimulate	31129149
Overweight	Associate	34836017
Pachyonychia Congenita	Associate	36116508
Pancreatic Carcinoma	Associate	15920550
Pancreatic Intraductal Neoplasms	Associate	12377812
Pancreatic Neoplasms	Stimulate	10615931, 9665487
Pancreatic Neoplasms	Associate	11286473, 11371228, 11469683, 12910515, 15801978, 15970678, 16082196, 16311341, 16575403, 16857803, 17457047, 18676769, 19034673, 19645012, 20124483 View all (60 more)
Pancreatic Neoplasms	Inhibit	27354262
Pancreatitis	Associate	34257550
Pancreatitis Chronic	Associate	15166955
Papilloma	Stimulate	12865943, 17592548
Papilloma	Associate	20131316, 33203919, 34108636
Papilloma Inverted	Associate	24039221, 25931286, 26077310, 27234382, 29145573, 33048186, 33203919, 36580012, 37891239, 38165205
Papillomavirus Infections	Associate	20498858, 25082736, 27223085, 34218257
Papillomavirus Infections	Inhibit	20938670
Paresis	Associate	31088573
Paresthesia	Associate	38432025
Parkinson Disease	Associate	23254265, 33548986
Parkinson Disease	Stimulate	32576586
Parkinson Disease	Inhibit	40405084
Paronychia	Associate	34577852
Paronychia	Inhibit	35291829
Parotid Neoplasms	Associate	18542074
Paroxysmal nonkinesigenic dyskinesia	Associate	36717865
Pelvic Inflammatory Disease	Associate	19252473
Penile Neoplasms	Associate	23819610, 26935231, 28122331, 33917394, 34151841
Peptic Ulcer	Associate	18806258
Periapical Diseases	Associate	39446923
Pericardial Effusion	Associate	17233841, 29719437, 35347923
Periodontal Diseases	Associate	37364780
Periodontitis	Associate	33917440
Peripheral Nervous System Neoplasms	Associate	34948100
Peritoneal Diseases	Associate	14976533
Peritoneal Neoplasms	Associate	14976533
Peritonitis	Associate	22426987, 32483122
Personality Disorders	Associate	17848272, 22194989, 22420963, 26114632, 27461681, 32761886, 34062049, 34665934, 35744950
Phyllodes Tumor	Associate	16258523, 18032821, 25593300, 26832993, 33727697
Phyllodes Tumor of the Prostate	Associate	17192792, 27255162
Pituitary ACTH Hypersecretion	Associate	25930709, 39684597
Pituitary Neoplasms	Associate	15098012, 20644271, 23413122, 25675982, 28660986, 34295309
Plaque Atherosclerotic	Associate	8432873
Pleural Diseases	Associate	26923333, 28253871, 33314737, 33707479, 36161776, 37355521, 37390230, 39596989
Pleural Diseases	Stimulate	28949965
Pleural Effusion	Associate	16827805, 17051834, 17060940, 22528563, 22776705, 24926551, 25635424, 25674250, 26917231, 27173189, 27739449, 30255614, 30526536, 30608413, 30672656 View all (11 more)
Pleural Effusion	Stimulate	25695223
Pleural Effusion Malignant	Associate	18508816, 21719485, 22525557, 22528563, 23018906, 23888061, 24587142, 25239875, 26338423, 27216707, 27352172, 28618947, 28934846, 30565433, 30804147 View all (9 more)
Pneumatosis Cystoides Intestinalis	Associate	30819142
Pneumocephalus	Associate	34488370
Pneumonia	Associate	32374485, 33663064, 34958928, 35181498
Pneumonia Pneumocystis	Associate	26198262
Pneumothorax	Associate	27794396
Poikiloderma of Kindler	Inhibit	30248333
Polycystic Kidney Autosomal Dominant	Associate	16797938, 25180832
Polycystic Kidney Diseases	Associate	21697238
Polycystic liver disease	Associate	18587325
Polycystic Ovary Syndrome	Associate	26416764, 28004769, 32289280
Polycythemia Vera	Associate	28550306
Polypoidal Choroidal Vasculopathy	Associate	36622089
Polyps	Associate	1419612, 20210241
Polyradiculoneuropathy Chronic Inflammatory Demyelinating	Associate	33408168
Popliteal Pterygium Syndrome	Associate	24105277
Poroma	Associate	20208479, 23056620
Postoperative Hemorrhage	Associate	26808114, 34447289
Preauricular Tag Isolated Autosomal Dominant 1	Associate	1532884
Precancerous Conditions	Associate	10576656, 35417043
Precursor Cell Lymphoblastic Leukemia Lymphoma	Associate	23936456
Primary granulocytic sarcoma	Associate	26045851
Primary Progressive Nonfluent Aphasia	Associate	36801605
Prodromal Symptoms	Stimulate	14679115
Prodromal Symptoms	Associate	20208477, 28111430, 29447182, 30872465, 33148621, 33501781, 33539970, 33549984, 33787673, 33892800, 34447289, 35014626, 36180314, 36256645, 36429891, 39275932 View all (1 more)
Prolactinoma	Associate	24287797, 33150390
Prostate Cancer Hereditary 7	Associate	23593148, 28039167
Prostatic Hyperplasia	Associate	8650201
Prostatic Neoplasms	Associate	10360641, 10638988, 11330643, 12616956, 12712332, 12841683, 14735192, 15720812, 16397033, 16741920, 16804520, 16970944, 17436590, 17823122, 18386291 View all (55 more)
Prostatic Neoplasms	Stimulate	22493441
Prostatic Neoplasms Castration Resistant	Associate	14735192, 18645679, 21559022, 27916908, 30620391, 35286517
Prostatic stromal proliferation of uncertain malignant potential	Associate	24880441
Prostatitis	Associate	12616956, 14735192, 16152586, 16741920, 16804520, 17598908, 18350153, 19294521, 27713116, 34321039, 35672281, 8650201, 9528825
Protein Deficiency	Associate	22686199
Proteinuria	Associate	17622313
Pruritus	Associate	27938998, 38432025
Pseudolymphoma	Stimulate	10951287
Pseudomonas Infections	Associate	34573440
Psoriasis	Associate	11173656, 1532884
Psoriasis	Stimulate	40405084
Psychotic Disorders	Associate	24743863
Pulmonary Disease Chronic Obstructive	Associate	24828666, 24978309, 25925667, 26346976, 27561911, 28345955, 28522810, 30280794, 35634326, 35860812, 37442582
Pulmonary Disease Chronic Obstructive	Inhibit	26555338
Pulmonary Disease Chronic Obstructive	Stimulate	27008036
Pyruvate Carboxylase Deficiency Disease	Associate	22087246, 22384099, 26725183
Radiation Injuries	Associate	23341526, 34111559, 36530656
Radiation Pneumonitis	Associate	33501781
Radicular Cyst	Associate	23207846
Rectal Neoplasms	Associate	15967033, 17311026, 18182986, 19050903, 19368728, 20843314, 26799287, 27062700, 30001205, 34188197, 34706519
Recurrence	Associate	15986037, 36720507
Reflex Abnormal	Associate	31088573
Renal Insufficiency	Inhibit	30837448
Renal Insufficiency Chronic	Associate	17622313
Respiratory Distress Syndrome	Associate	39334060
Respiratory Tract Infections	Associate	33663064
Retinal Dysplasia	Associate	12762344, 16158937, 1696918, 17877424, 31421471, 35897137, 37482844
Retinal Dysplasia	Stimulate	27559738
Retinal Neoplasms	Associate	32058355
Retinoblastoma	Stimulate	31173241
Retrograde Degeneration	Associate	40474176
Rhabdoid Tumor	Associate	11267936
Rhabdomyosarcoma	Associate	17896786
Rhabdomyosarcoma Embryonal	Associate	16729016
Rickets Hypophosphatemic	Inhibit	30192383
Rickets Hypophosphatemic	Associate	30192383
Rufous oculocutaneous albinism	Associate	29402243, 40429751
Salivary Duct Calculi	Associate	20371674, 25343854, 30484070
Salivary Gland Neoplasms	Associate	18542074, 19309723, 19547661, 20664595, 22240798, 23361279, 23933559, 25012870, 28377929, 34232601, 35241559
Sarcoma	Associate	15772959, 16461571, 20118913, 26526352, 28556791, 29394136, 29703606, 29881993, 30513863
Sarcoma	Stimulate	19781955
Sarcoma Clear Cell	Associate	16867224
Sarcoma Ewing	Associate	24590121
Sarcoma Synovial	Associate	14507652, 15641030, 16514409, 18448562, 29893303
Schizophrenia	Associate	24743863, 28117656
Schizophrenia	Stimulate	2984254
Scleroderma Diffuse	Inhibit	33131208
Scleroderma Systemic	Associate	35663995
Sebaceous gland hyperplasia familial presenile	Associate	26804118
Sebaceous Gland Neoplasms	Associate	26804118
Secretory breast carcinoma	Associate	31502214
Segawa syndrome autosomal recessive	Inhibit	32292093
Seizures	Associate	25153654, 26808114
Seminoma	Stimulate	20608935
Sepsis	Associate	36344490
Sertoli Cell Only Syndrome	Associate	8174734
Severe Acute Respiratory Syndrome	Associate	12762344, 38375886
Sexual Dysfunction Physiological	Associate	18000506, 33548986
Sick Sinus Syndrome	Associate	15829495
Sigmoid Neoplasms	Associate	25437589
Sinonasal undifferentiated carcinoma	Associate	23633104, 33048186, 33203919, 36946265
Sinus Thrombosis Intracranial	Associate	31929495
Skin Diseases	Associate	1532884, 15865067, 17106442, 17410005, 17878175, 22117530, 25219648, 25707609, 27165055, 27938998, 30557370, 36232814
Skin Diseases	Inhibit	26475804, 27467256
Skin Neoplasms	Associate	23430747
Skull Base Neoplasms	Associate	20670138
Sleep Disorders Circadian Rhythm	Associate	37221352
Small Cell Lung Carcinoma	Associate	17784875, 20683448, 21178714, 21430269, 21718596, 24195468, 24457237, 24828667, 24913109, 24978188, 25355724, 25700797, 25758528, 26400668, 26752677 View all (47 more)
Smoke Inhalation Injury	Stimulate	15563701, 23932486, 40345896
Smoke Inhalation Injury	Associate	27371767, 28345955, 32047821, 36341427
Smoke Inhalation Injury	Inhibit	29489642, 30868748, 31436246
Soft Tissue Neoplasms	Associate	15254554, 19648884, 39577666
Solitary Pulmonary Nodule	Associate	19844187, 33002403, 34393158, 37579253
Spastic paraplegia 15 autosomal recessive	Associate	30081747
Spastic paraplegia 20 autosomal recessive	Associate	17332501
Spinal Cord Compression	Associate	36477376
Spinal Cord Neoplasms	Associate	31229973
Spinal Fractures	Inhibit	30837448
Spinal Muscular Atrophies of Childhood	Associate	35484883
Spinocerebellar Degenerations	Associate	32772458
Squamous Cell Carcinoma of Head and Neck	Associate	10096253, 12771142, 12942316, 15144956, 15205458, 15692721, 15842252, 16158919, 16547470, 16799709, 16984731, 17132224, 17431120, 17486071, 18225538 View all (217 more)
Squamous Cell Carcinoma of Head and Neck	Stimulate	19204206
Squamous Cell Carcinoma of Head and Neck	Inhibit	25563452, 34272446
Squamous Intraepithelial Lesions	Associate	22203921, 24551297, 24966959
Status Asthmaticus	Stimulate	11698473
Status Asthmaticus	Associate	15929951, 26243279, 30639343
Stomach Diseases	Associate	28222666, 29379775, 31034158
Stomach Neoplasms	Associate	10037277, 10480573, 11680933, 12618892, 15073595, 15161014, 15556605, 15647181, 16816379, 17094480, 17431415, 17433039, 17922051, 18199332, 18224443 View all (97 more)
Stomach Neoplasms	Stimulate	25959250
Stomach Ulcer	Inhibit	12641822
Stroke	Associate	34107910, 35862191
Substance Related Disorders	Associate	18711136, 23752247
Superior Vena Cava Syndrome	Associate	29590083
Supranuclear Palsy Progressive	Associate	28271184
Supratentorial Neoplasms	Associate	20708924, 21059755
Sveinsson Chorioretinal Atrophy	Associate	21455841
Syndrome	Associate	20064244, 23144692, 27552105
Tachycardia Atrioventricular Nodal Reentry	Associate	18629779, 20873989
Tarlov Cysts	Associate	38358186
Teratoma	Associate	12783324
Tertiary Lymphoid Structures	Associate	18505086, 20430737, 25154973, 25593477, 26599344, 28854970, 32600105, 34948746
Tertiary Lymphoid Structures	Stimulate	25953424
Tertiary Lymphoid Structures	Inhibit	27761967
Testicular Diseases	Associate	8174734
Testicular Germ Cell Tumor	Associate	12783324, 20608935, 28320414, 34882061
Tetralogy of Fallot	Associate	24479926
Thalamic Diseases	Associate	24285547
Thoracic Injuries	Associate	30817606
Thromboembolism	Associate	33314597, 36493600, 37232831
Thrombosis	Associate	35938548
Thymic epithelial tumor	Associate	11935304, 22700994
Thymoma	Associate	11935304, 15630697, 32388277, 33835620, 35092378, 7629292
Thymus Neoplasms	Associate	11935304, 22700994
Thyroid cancer medullary	Associate	27409604
Thyroid Cancer Papillary	Associate	20877637, 23569038, 23746767, 25031742, 28947799, 29665129, 32685551, 32767330, 33592140, 36510281
Thyroid Carcinoma Anaplastic	Associate	17079354, 28489587, 29849821, 36094870
Thyroid Neoplasms	Associate	12471003, 1699752, 17158762, 20237991, 23746767, 23917679, 26695142, 28757314, 33267781, 33874989, 36094870, 36510281
Thyroid Neoplasms	Stimulate	29849821
Thyroid Nodule	Associate	20087229, 31699841, 32296586, 34749486
Tight skin contracture syndrome lethal	Associate	11173656
Tn Syndrome	Associate	23124476
Tongue Neoplasms	Associate	34201116
Tooth Erosion	Associate	24691054
Trifunctional Protein Deficiency With Myopathy And Neuropathy	Associate	39327682
Triple Negative Breast Neoplasms	Associate	17598908, 18266105, 18950515, 19150933, 19855377, 21120307, 21276138, 21457545, 21656328, 22293080, 22579283, 22638807, 22665533, 22788954, 22957061 View all (86 more)
Triple Negative Breast Neoplasms	Stimulate	21966417, 23082819, 25966200, 32806648, 36853320
Trochlear Nerve Diseases	Associate	27211795
Tuberculosis	Associate	22173705, 25634180, 26927994, 33663064
Tuberculosis	Stimulate	29621876
Tuberculosis Extrapulmonary	Associate	23599147
Tuberculosis Multidrug Resistant	Associate	20942457, 27220321, 29450946, 34065402
Tuberculosis Pulmonary	Associate	22173705, 33663064
Tuberculosis Pulmonary	Stimulate	29621876
Tuberous Sclerosis	Associate	35084981
Tuberous Sclerosis 1	Associate	36231025
Turcot syndrome	Associate	24800948, 28591715, 38066711
Tyrosine Kinase 2 Deficiency	Associate	19949011, 23714228, 27268079, 27821794, 34548309, 37920971
Tyrosine Kinase 2 Deficiency	Inhibit	20635059, 22502680, 31361375, 32634610
Ulcer	Associate	27062700
Unconsciousness	Associate	37143409
Urachal cancer	Associate	27178450, 27283768
Uremia	Associate	37773677
Urethral Neoplasms	Associate	16965395, 18006009, 22406363, 23827819, 24186136, 27044931, 28388586, 39609964
Urinary Bladder Diseases	Associate	1712624, 27870887
Urinary Bladder Neoplasms	Associate	10995035, 15583696, 15611794, 16685269, 17311025, 17394193, 17909029, 18006009, 18234962, 19171060, 19287975, 19372140, 19671845, 19881954, 20407012 View all (42 more)
Urinary Bladder Neoplasms	Stimulate	23251617, 25719831, 28285559, 29456764, 33426060, 7819052
Urologic Neoplasms	Associate	24065479, 27870887
Urticaria	Associate	32461525
Usher syndrome type 2A	Associate	36751700
Uterine Cervical Dysplasia	Associate	11788593, 1696918, 21982220, 26339400
Uterine Cervical Neoplasms	Associate	11275796, 11788593, 12967482, 17316357, 18629779, 18700025, 19654571, 21252859, 21305029, 21424032, 21982220, 23927961, 23936413, 24037752, 24551297 View all (30 more)
Uterine Cervical Neoplasms	Stimulate	31922210
Uterine Cervicitis	Associate	24551297, 24966959, 27223085
Uterine Diseases	Associate	37257767
Uterine Neoplasms	Associate	25981989, 32994315
Uveal melanoma	Associate	30571927
Varicose Veins	Associate	31432124
Vascular Calcification	Associate	36930472
Vascular Diseases	Associate	15734884
Vascular System Injuries	Associate	33549061
Vasculitis	Associate	35457163
Venous Thromboembolism	Associate	29743116
Venous Thrombosis	Associate	22533697, 34180588, 37232831
Virus Diseases	Associate	23255786
Vision Disorders	Associate	33272243
Vitamin K Deficiency	Stimulate	17699110
Vomiting	Associate	32393286
Vulvar Neoplasms	Associate	16963112, 31844270
Weight Loss	Associate	34836017, 36905787
Wilms Tumor	Associate	20944147, 37058032
Winter Shortland Temple syndrome	Associate	21273531
Wiskott Aldrich Syndrome	Stimulate	20018733
Wolf Hirschhorn Syndrome	Associate	29291705
X Linked Combined Immunodeficiency Diseases	Associate	25272957, 34242789
Xanthomatosis	Associate	40275124
Zinc Deficiency Neonatal due to Low Breast Milk Zinc	Stimulate	35216384

EGFR (epidermal growth factor receptor)