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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	673
Gene name	B-Raf proto-oncogene, serine/threonine kinase
Gene symbol	BRAF
Synonyms (NCBI Gene)	B-RAF1B-rafBRAF-1BRAF1NS7RAFB1
Chromosome	7
Chromosome location	7q34
Summary	This gene encodes a protein belonging to the RAF family of serine/threonine protein kinases. This protein plays a role in regulating the MAP kinase/ERK signaling pathway, which affects cell division, differentiation, and secretion. Mutations in this gene,

107

Show/Hide all (107)

SNP ID	Visualize variation	Clinical significance	Consequence
rs113488022	A>C,G,T	Pathogenic, likely-pathogenic, uncertain-significance, other, drug-response	Non coding transcript variant, intron variant, coding sequence variant, missense variant
rs121913225	A>G	Likely-pathogenic	Non coding transcript variant, intron variant, coding sequence variant, missense variant
rs121913226	TTT>-	Likely-pathogenic	Non coding transcript variant, inframe deletion, intron variant, coding sequence variant
rs121913227	AC>CT,TT	Drug-response, pathogenic	Non coding transcript variant, intron variant, coding sequence variant, missense variant
rs121913335	T>G	Likely-pathogenic	Non coding transcript variant, intron variant, coding sequence variant, missense variant
rs121913336	G>C,T	Likely-pathogenic	Non coding transcript variant, intron variant, coding sequence variant, missense variant
rs121913337	A>C,T	Pathogenic, likely-pathogenic	Non coding transcript variant, intron variant, coding sequence variant, missense variant
rs121913338	T>A,C,G	Uncertain-significance, pathogenic, likely-pathogenic	Non coding transcript variant, intron variant, coding sequence variant, missense variant
rs121913340	C>T	Uncertain-significance, likely-pathogenic	Non coding transcript variant, intron variant, coding sequence variant, missense variant
rs121913341	A>C,T	Pathogenic, likely-pathogenic	Non coding transcript variant, intron variant, coding sequence variant, missense variant
rs121913348	C>A,G,T	Pathogenic-likely-pathogenic, uncertain-significance, pathogenic, likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs121913349	C>G,T	Pathogenic, likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs121913351	C>A,G,T	Pathogenic-likely-pathogenic, pathogenic, likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs121913353	C>G,T	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs121913355	C>A,G,T	Pathogenic, likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs121913357	C>A,G,T	Uncertain-significance, pathogenic, likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant, stop gained
rs121913361	C>A,G,T	Uncertain-significance, pathogenic, likely-pathogenic	Non coding transcript variant, intron variant, coding sequence variant, missense variant
rs121913362	T>C	Likely-pathogenic	Non coding transcript variant, intron variant, coding sequence variant, missense variant
rs121913363	T>C	Likely-pathogenic	Non coding transcript variant, intron variant, coding sequence variant, missense variant
rs121913364	T>C,G	Pathogenic, likely-pathogenic	Non coding transcript variant, intron variant, coding sequence variant, missense variant
rs121913365	T>A,G	Likely-pathogenic	Non coding transcript variant, intron variant, coding sequence variant, missense variant
rs121913366	A>C,T	Pathogenic, likely-pathogenic	Non coding transcript variant, intron variant, coding sequence variant, missense variant
rs121913368	AG>GA	Pathogenic	Non coding transcript variant, intron variant, coding sequence variant, missense variant
rs121913369	G>A,C	Pathogenic, likely-pathogenic	Missense variant, synonymous variant, intron variant, non coding transcript variant, coding sequence variant
rs121913370	T>C,G	Likely-pathogenic	Non coding transcript variant, intron variant, coding sequence variant, missense variant
rs121913371	G>A,T	Likely-pathogenic	Non coding transcript variant, synonymous variant, missense variant, coding sequence variant
rs121913372	CT>AA	Likely-pathogenic	Non coding transcript variant, intron variant, coding sequence variant, missense variant
rs121913373	C>T	Likely-pathogenic	Non coding transcript variant, intron variant, coding sequence variant, missense variant
rs121913375	G>A,C	Uncertain-significance, pathogenic, likely-pathogenic	Non coding transcript variant, intron variant, coding sequence variant, missense variant
rs121913376	C>A,T	Uncertain-significance, likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs121913377	CA>AT,TT	Pathogenic, likely-pathogenic	Non coding transcript variant, intron variant, coding sequence variant, missense variant
rs121913378	C>A,G,T	Pathogenic, likely-pathogenic	Non coding transcript variant, intron variant, coding sequence variant, missense variant
rs180177032	C>A	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs180177033	A>C	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs180177034	C>G	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs180177035	T>C	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs180177036	C>A,G	Uncertain-significance, pathogenic, likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs180177037	T>C,G	Uncertain-significance, pathogenic-likely-pathogenic, pathogenic, likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs180177038	C>G,T	Pathogenic-likely-pathogenic, pathogenic, likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs180177039	T>A,C,G	Pathogenic, likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs180177040	T>C,G	Pathogenic, likely-pathogenic	Non coding transcript variant, coding sequence variant, intron variant, missense variant
rs180177041	C>G	Pathogenic, likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs180177042	A>C,T	Not-provided, pathogenic, likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs387906660	G>A,C,T	Likely-pathogenic, pathogenic, uncertain-significance	Non coding transcript variant, missense variant, coding sequence variant
rs387906661	T>G	Pathogenic-likely-pathogenic, pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs397507465	T>G	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs397507466	T>A,C,G	Likely-pathogenic, pathogenic	Synonymous variant, non coding transcript variant, missense variant, coding sequence variant
rs397507467	A>G	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs397507469	G>T	Likely-pathogenic, pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs397507470	G>T	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs397507473	A>G	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs397507474	T>C,G	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs397507475	A>G	Likely-pathogenic, pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs397507476	T>A,G	Pathogenic-likely-pathogenic, pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs397507477	G>A	Likely-pathogenic, pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs397507478	C>A,G	Likely-pathogenic, pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs397507479	C>T	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs397507480	A>C	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant, intron variant
rs397507481	G>C,T	Likely-pathogenic, pathogenic	Non coding transcript variant, missense variant, coding sequence variant, intron variant
rs397507483	C>A,T	Likely-pathogenic, pathogenic	Non coding transcript variant, missense variant, coding sequence variant, intron variant
rs397507484	T>A,C,G	Likely-pathogenic, pathogenic, not-provided	Non coding transcript variant, missense variant, coding sequence variant, intron variant
rs397509343	A>C	Likely-pathogenic, pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs397516890	TCC>-	Pathogenic	Non coding transcript variant, inframe deletion, coding sequence variant
rs397516891	G>C	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs397516892	G>T	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs397516893	A>C	Likely-pathogenic, pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs397516894	G>A,C	Pathogenic, not-provided	Non coding transcript variant, missense variant, coding sequence variant, intron variant
rs397516895	A>T	Likely-pathogenic, pathogenic	Non coding transcript variant, missense variant, coding sequence variant, intron variant
rs397516896	C>G,T	Likely-pathogenic, pathogenic	Non coding transcript variant, missense variant, coding sequence variant, intron variant
rs397516897	TCA>-	Likely-pathogenic	Non coding transcript variant, inframe indel, coding sequence variant, intron variant
rs397516903	A>C,G	Likely-pathogenic, pathogenic, uncertain-significance	Non coding transcript variant, missense variant, coding sequence variant
rs397516904	T>C,G	Likely-pathogenic, pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs397516905	C>G	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs606231228	C>A,G	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs727502902	->TAG	Pathogenic	Coding sequence variant, intron variant, non coding transcript variant, inframe insertion
rs727502904	G>A,T	Likely-pathogenic, uncertain-significance	Coding sequence variant, intron variant, non coding transcript variant, missense variant
rs727504375	T>G	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs749287111	T>C,G	Likely-pathogenic	Intron variant, coding sequence variant, non coding transcript variant, missense variant
rs794727865	G>C	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, non coding transcript variant, synonymous variant
rs794729219	A>G	Pathogenic, likely-pathogenic	Coding sequence variant, non coding transcript variant, intron variant, missense variant
rs869025340	A>C,G,T	Pathogenic, pathogenic-likely-pathogenic, likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs869025606	A>C	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs869025607	GTT>-	Pathogenic	Coding sequence variant, non coding transcript variant, inframe deletion
rs886041264	A>T	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1038048880	C>G,T	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1057517915	C>A	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant, intron variant
rs1057518105	C>G	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1057519718	CA>TC	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant, intron variant
rs1057519719	T>C	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1057519720	CC>AA,GA	Pathogenic, likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1131692058	TCTACA>-	Pathogenic	Non coding transcript variant, coding sequence variant, splice acceptor variant, intron variant
rs1325951163	C>G,T	Likely-pathogenic, pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs1481562268	C>A,T	Likely-pathogenic	Coding sequence variant, intron variant, missense variant, non coding transcript variant
rs1562931107	G>A	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant, intron variant
rs1562955153	->ACT	Likely-pathogenic	Coding sequence variant, non coding transcript variant, inframe insertion
rs1562956929	->CAAATGATCCAGATCCAATTC	Likely-pathogenic	Coding sequence variant, non coding transcript variant, inframe insertion
rs1562957000	T>C	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1585930903	C>T	Likely-pathogenic	Intron variant, missense variant, coding sequence variant, non coding transcript variant
rs1585998247	G>A	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs1586015221	G>A	Likely-pathogenic	Intron variant, missense variant, coding sequence variant, non coding transcript variant
rs1586126439	AGGTGCTGTCACATT>-	Drug-response	Inframe deletion, coding sequence variant, non coding transcript variant
rs1586126581	T>G	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1586126644	GC>TT	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1586140436	TGTTCC>-	Likely-pathogenic	Inframe deletion, coding sequence variant, non coding transcript variant
rs1586140512	T>G	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1586213318	C>T	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1586237312	G>A	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant

Show/Hide all (15)

miRTarBase ID	miRNA	Experiments	Reference
MIRT045803	hsa-miR-191-5p	CLASH	23622248
MIRT043975	hsa-miR-378a-5p	CLASH	23622248
MIRT037574	hsa-miR-744-5p	CLASH	23622248
MIRT053218	hsa-miR-143-3p	Luciferase reporter assayqRT-PCRWestern blot	23128394
MIRT053219	hsa-miR-145-5p	Luciferase reporter assayqRT-PCRWestern blot	23128394
MIRT731810	hsa-miR-579-3p	qRT-PCRWestern blot	27503895
MIRT731810	hsa-miR-579-3p	qRT-PCRWestern blot	27503895
MIRT731810	hsa-miR-579-3p	qRT-PCRWestern blot	27503895
MIRT731810	hsa-miR-579-3p	qRT-PCRWestern blot	27503895
MIRT735716	hsa-miR-30a-5p	qRT-PCR	32864858
MIRT735717	hsa-miR-98-5p	qRT-PCR	32864858
MIRT735718	hsa-miR-92a-3p	qRT-PCR	32864858
MIRT736154	hsa-miR-524-5p	Western blottingImmunohistochemistry (IHC)qRT-PCR	33142243
MIRT736524	hsa-miR-193a-3p	Luciferase reporter assayWestern blotting	34288281
MIRT736524	hsa-miR-193a-3p	Luciferase reporter assayWestern blottingFlow cytometry	34288281

Show/Hide all (90)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000165	Process	MAPK cascade	IDA	18567582, 29433126
GO:0000166	Function	Nucleotide binding	IEA
GO:0002318	Process	Myeloid progenitor cell differentiation	IEA
GO:0003824	Function	Catalytic activity	IEA
GO:0004672	Function	Protein kinase activity	IDA	17563371
GO:0004672	Function	Protein kinase activity	IEA
GO:0004672	Function	Protein kinase activity	TAS	2284096
GO:0004674	Function	Protein serine/threonine kinase activity	IDA	18567582, 19667065
GO:0004674	Function	Protein serine/threonine kinase activity	IEA
GO:0004708	Function	MAP kinase kinase activity	IMP	29433126
GO:0004709	Function	MAP kinase kinase kinase activity	IBA
GO:0005509	Function	Calcium ion binding	IDA	18567582
GO:0005515	Function	Protein binding	IPI	12620389, 15161933, 15778465, 16810323, 16888650, 17380122, 17563371, 17979178, 18567582, 20130576, 20141835, 21441910, 21478863, 21625473, 22169110, 22510884, 22939624, 23153539, 23680146, 23934108, 24255178, 24441586, 24746704, 25155755, 25241761, 25437913, 25600339, 26165597, 264
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005739	Component	Mitochondrion	IBA
GO:0005739	Component	Mitochondrion	IEA
GO:0005829	Component	Cytosol	IBA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0005929	Component	Cilium	IDA
GO:0006468	Process	Protein phosphorylation	TAS	2284096
GO:0007165	Process	Signal transduction	IEA
GO:0007173	Process	Epidermal growth factor receptor signaling pathway	IDA	18567582
GO:0008270	Function	Zinc ion binding	IEA
GO:0008542	Process	Visual learning	IEA
GO:0009887	Process	Animal organ morphogenesis	TAS	9207797
GO:0010628	Process	Positive regulation of gene expression	IEA
GO:0010628	Process	Positive regulation of gene expression	IMP	22065586
GO:0010764	Process	Negative regulation of fibroblast migration	IEA
GO:0010828	Process	Positive regulation of D-glucose transmembrane transport	IDA	23010278
GO:0016020	Component	Membrane	IEA
GO:0016079	Process	Synaptic vesicle exocytosis	IEA
GO:0016301	Function	Kinase activity	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0030154	Process	Cell differentiation	IEA
GO:0030878	Process	Thyroid gland development	IEA
GO:0031267	Function	Small GTPase binding	IPI	12194967
GO:0033077	Process	T cell differentiation in thymus	IEA
GO:0033138	Process	Positive regulation of peptidyl-serine phosphorylation	IDA	19667065
GO:0034446	Process	Substrate adhesion-dependent cell spreading	IEA
GO:0034451	Component	Centriolar satellite	IDA
GO:0035019	Process	Somatic stem cell population maintenance	IEA
GO:0036064	Component	Ciliary basal body	IDA
GO:0042127	Process	Regulation of cell population proliferation	IEA
GO:0042802	Function	Identical protein binding	IPI	16858395, 19727074, 22169110, 22510884, 25155755, 25437913, 35512704
GO:0043005	Component	Neuron projection	IEA
GO:0043066	Process	Negative regulation of apoptotic process	IDA	19667065
GO:0043066	Process	Negative regulation of apoptotic process	IEA
GO:0043066	Process	Negative regulation of apoptotic process	TAS	9207797
GO:0043149	Process	Stress fiber assembly	IEA
GO:0043367	Process	CD4-positive, alpha-beta T cell differentiation	IEA
GO:0043368	Process	Positive T cell selection	IEA
GO:0043369	Process	CD4-positive or CD8-positive, alpha-beta T cell lineage commitment	IEA
GO:0043524	Process	Negative regulation of neuron apoptotic process	IEA
GO:0044297	Component	Cell body	IEA
GO:0045580	Process	Regulation of T cell differentiation	IEA
GO:0046632	Process	Alpha-beta T cell differentiation	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0048538	Process	Thymus development	IEA
GO:0048679	Process	Regulation of axon regeneration	IEA
GO:0048680	Process	Positive regulation of axon regeneration	IEA
GO:0050772	Process	Positive regulation of axonogenesis	IEA
GO:0050852	Process	T cell receptor signaling pathway	IEA
GO:0051496	Process	Positive regulation of stress fiber assembly	IEA
GO:0060291	Process	Long-term synaptic potentiation	IEA
GO:0060323	Process	Head morphogenesis	IEA
GO:0060324	Process	Face development	IEA
GO:0070371	Process	ERK1 and ERK2 cascade	IBA
GO:0070371	Process	ERK1 and ERK2 cascade	IEA
GO:0070374	Process	Positive regulation of ERK1 and ERK2 cascade	IDA	22065586
GO:0070374	Process	Positive regulation of ERK1 and ERK2 cascade	IEA
GO:0071277	Process	Cellular response to calcium ion	IDA	18567582
GO:0071466	Process	Cellular response to xenobiotic stimulus	IEA
GO:0072577	Process	Endothelial cell apoptotic process	IEA
GO:0090150	Process	Establishment of protein localization to membrane	IDA	23010278
GO:0097110	Function	Scaffold protein binding	IPI	18567582
GO:0098793	Component	Presynapse	IEA
GO:0098794	Component	Postsynapse	IEA
GO:0098978	Component	Glutamatergic synapse	IEA
GO:0099170	Process	Postsynaptic modulation of chemical synaptic transmission	IEA
GO:0106310	Function	Protein serine kinase activity	IEA
GO:1900026	Process	Positive regulation of substrate adhesion-dependent cell spreading	IEA
GO:2000301	Process	Negative regulation of synaptic vesicle exocytosis	IEA
GO:2000352	Process	Negative regulation of endothelial cell apoptotic process	IEA

MIM	HGNC	e!Ensembl
164757	1097	ENSG00000157764

P15056

Protein name

Serine/threonine-protein kinase B-raf (EC 2.7.11.1) (Proto-oncogene B-Raf) (p94) (v-Raf murine sarcoma viral oncogene homolog B1)

Protein function

Protein kinase involved in the transduction of mitogenic signals from the cell membrane to the nucleus (Probable). Phosphorylates MAP2K1, and thereby activates the MAP kinase signal transduction pathway (PubMed:21441910, PubMed:29433126). Phosph

PDB

1UWH , 1UWJ , 2FB8 , 2L05 , 3C4C , 3D4Q , 3IDP , 3II5 , 3NY5 , 3OG7 , 3PPJ , 3PPK , 3PRF , 3PRI , 3PSB , 3PSD , 3Q4C , 3Q96 , 3SKC , 3TV4 , 3TV6 , 4CQE , 4DBN , 4E26 , 4E4X , 4EHE , 4EHG , 4FC0 , 4FK3 , 4G9C , 4G9R , 4H58 , 4JVG , 4KSP , 4KSQ , 4MBJ , 4MNE , 4MNF , 4PP7 , 4R5Y , 4RZV , 4RZW , 4WO5 , 4XV1 , 4XV2 , 4XV3 , 4XV9 , 4YHT , 5C9C , 5CSW , 5CSX

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF02196	RBD	156 → 225	Raf-like Ras-binding domain	Domain
PF00130	C1_1	235 → 282	Phorbol esters/diacylglycerol binding domain (C1 domain)	Domain
PF07714	PK_Tyr_Ser-Thr	457 → 714	Protein tyrosine and serine/threonine kinase	Domain

Tissue specificity

TISSUE SPECIFICITY: Brain and testis.

Sequence

MAALSGGGGGGAEPGQALFNGDMEPEAGAGAGAAASSAADPAIPEEVWNIKQMIKLTQEH
IEALLDKFGGEHNPPSIYLEAYEEYTSKLDALQQREQQLLESLGNGTDFSVSSSASMDTV
TSSSSSSLSVLPSSLSVFQNPTDVARSNPKSPQKPIVRVFLPNKQRTVVPARCGVTVRDS
LKKALMMRGLIPECCAVYRIQDGEKKPIGWDTDISWLTGEELHVEVLENVPLTTHNFVRK
TFFTLAFCDFCRKLLFQGFRCQTCGYKFHQRCSTEVPLMCVNYDQLDLLFVSKFFEHHPI
PQEEASLAETALTSGSSPSAPASDSIGPQILTSPSPSKSIPIPQPFRPADEDHRNQFGQR
DRSSSAPNVHINTIEPVNIDDLIRDQGFRGDGGSTTGLSATPPASLPGSLTNVKALQKSP
GPQRERKSSSSSEDRNRMKTLGRRDSSDDWEIPDGQITVGQRIGSGSFGTVYKGKWHGDV
AVKMLNVTAPTPQQLQAFKNEVGVLRKTRHVNILLFMGYSTKPQLAIVTQWCEGSSLYHH
LHIIETKFEMIKLIDIARQTAQGMDYLHAKSIIHRDLKSNNIFLHEDLTVKIGDFGLATV
KSRWSGSHQFEQLSGSILWMAPEVIRMQDKNPYSFQSDVYAFGIVLYELMTGQLPYSNIN
NRDQIIFMVGRGYLSPDLSKVRSNCPKAMKRLMAECLKKKRDERPLFPQILASIELLARS
LPKIHRSASEPSLNRAGFQTEDFSLYACASPKTPIQAGGYGAFPVH

Sequence length

766

Interactions

View interactions

	KEGG		Reactome
	EGFR tyrosine kinase inhibitor resistance Endocrine resistance MAPK signaling pathway ErbB signaling pathway Rap1 signaling pathway cAMP signaling pathway Chemokine signaling pathway FoxO signaling pathway mTOR signaling pathway Vascular smooth muscle contraction Focal adhesion Natural killer cell mediated cytotoxicity Long-term potentiation Neurotrophin signaling pathway Serotonergic synapse Long-term depression Regulation of actin cytoskeleton Insulin signaling pathway Progesterone-mediated oocyte maturation Parathyroid hormone synthesis, secretion and action Cushing syndrome Alzheimer disease Pathways of neurodegeneration - multiple diseases Alcoholism Hepatitis C Hepatitis B Pathways in cancer Proteoglycans in cancer Chemical carcinogenesis - reactive oxygen species Colorectal cancer Renal cell carcinoma Pancreatic cancer Endometrial cancer Glioma Prostate cancer Thyroid cancer Melanoma Bladder cancer Chronic myeloid leukemia Acute myeloid leukemia Non-small cell lung cancer Breast cancer Hepatocellular carcinoma Gastric cancer		Spry regulation of FGF signaling Frs2-mediated activation RAF activation MAP2K and MAPK activation Negative feedback regulation of MAPK pathway Negative regulation of MAPK pathway Signaling by moderate kinase activity BRAF mutants Signaling by high-kinase activity BRAF mutants Signaling by BRAF and RAF fusions Paradoxical activation of RAF signaling by kinase inactive BRAF Signaling downstream of RAS mutants

1765

Show/Hide Causal Diseases (51)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Ataxia-telangiectasia syndrome	Pathogenic; Likely pathogenic	rs180177036, rs121913376	RCV001849264 RCV002051798
BRAF-related disorder	Pathogenic; Likely pathogenic	rs180177042, rs180177035, rs180177036, rs387906660, rs397507473, rs397507483	RCV005867936 RCV004752707 RCV003415705 RCV003398558 RCV003407389 RCV005867806
Carcinoma of colon	Pathogenic	rs180177032, rs180177033, rs121913348, rs121913364	RCV000014995 RCV000014996 RCV000014997 RCV000014999
Cardio-facio-cutaneous syndrome	Pathogenic; Likely pathogenic	rs121913341, rs180177036, rs180177042, rs794729219, rs869025606, rs121913348, rs180177034, rs121913369, rs121913357, rs180177035, rs121913355, rs180177038, rs180177039, rs180177040, rs180177041 View all (27 more)	RCV000154266 RCV000844617 RCV000150199 RCV002222430 RCV000208777 RCV000844618 RCV000033285 RCV000033333 RCV001778653 RCV000208766 RCV000211748 RCV000208764 RCV000844616 RCV000211750 RCV000211751 RCV000208775 RCV000824916 RCV000824926 RCV000824925 RCV003230371 RCV000211752 RCV000037955 RCV000037956 RCV000037957 RCV000033288 RCV000824917 RCV000037917 RCV000150208 RCV000150207 RCV001814021 RCV000037924 RCV000150205 RCV000037927 RCV000208758 RCV000208774 RCV000824928 RCV000150201 RCV000037921 RCV000037922 RCV000037923 RCV000037928 RCV000037929 RCV000037939 RCV000824912 RCV000208128 RCV000824920 RCV000824918 RCV000824919
Cardiofaciocutaneous syndrome 1	Pathogenic; Likely pathogenic	rs397507475, rs180177036, rs180177042, rs397516903, rs794729219, rs869025340, rs121913375, rs180177034, rs121913369, rs180177035, rs121913355, rs180177037, rs180177038, rs180177039, rs180177040 View all (19 more)	RCV001785377 RCV004596077 RCV000767527 RCV001803101 RCV000184039 RCV005632316 RCV000856750 RCV000014998 RCV005222683 RCV000015007 RCV000015008 RCV000015009 RCV000015010 RCV000015011 RCV000015012 RCV000015013 RCV000015014 RCV000015015 RCV005256923 RCV000856751 RCV000515432 RCV000022680 RCV000515291 RCV002250499 RCV001807745 RCV001293860 RCV000824982 RCV001089762 RCV001775071 RCV000626038 RCV004515780 RCV000856749 RCV001705626 RCV002051799 RCV004999146 RCV002468592 RCV002051804 RCV000763165 RCV000999627 RCV000987982 RCV000987987 RCV001253374
Cardiovascular phenotype	Likely pathogenic; Pathogenic	rs138333692, rs397516904, rs180177035, rs180177036, rs180177038, rs180177040	RCV005520564 RCV004601118 RCV004018628 RCV004018629 RCV004018630 RCV004018631
Cerebral arteriovenous malformation	Pathogenic	rs1585998247	RCV000860021
Childhood ganglioglioma	Pathogenic	rs727502902	RCV000515781
Colorectal cancer	Pathogenic	rs2129018408	RCV002249304
Dandy-Walker syndrome	Likely pathogenic; Pathogenic	rs180177041	RCV001257953
Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype	Pathogenic	rs121913364	RCV006253615
Embryonal rhabdomyosarcoma	Pathogenic	rs397507465	RCV006253708
Familial cardiofaciocutaneous syndrome	Likely pathogenic; Pathogenic	rs180177039	RCV001273349
Gallbladder cancer	Likely pathogenic	rs1057519718	RCV001374449
Ganglioglioma	Pathogenic	rs121913355, rs121913338	RCV006253619 RCV006253620
Genetic syndrome with a Dandy-Walker malformation as major feature	Likely pathogenic; Pathogenic	rs180177041	RCV000779634
High grade astrocytic tumor	Pathogenic	rs727502902	RCV006253837
Hypertrophic cardiomyopathy 4	Pathogenic	rs1131692058	RCV000495877
LEOPARD syndrome 3	Likely pathogenic; Pathogenic	rs869025340, rs121913369, rs180177035, rs180177040, rs180177042, rs387906660, rs387906661, rs397507466, rs397516895	RCV005632316 RCV005222683 RCV001027771 RCV005603587 RCV000763164 RCV000515432 RCV000022681 RCV000171142 RCV000763165
Lip and oral cavity carcinoma	Pathogenic	rs1801030116	RCV001255637
Low grade glioma	Pathogenic	rs397507475, rs727502902, rs121913355	RCV006254306 RCV006253836 RCV006253738
Lung adenocarcinoma	Likely pathogenic; Pathogenic	rs121913370, rs121913364, rs121913351, rs121913366, rs121913338, rs397516896	RCV000430462 RCV000433498 RCV000015001 RCV000015002 RCV000426107 RCV000443573
Lung cancer	Likely pathogenic; Pathogenic	rs180177037	RCV005644487
Lung carcinoma	Likely pathogenic; Pathogenic	rs180177042, rs387906660, rs387906661, rs397507466, rs397516895	RCV000763164 RCV000515432 RCV000515363 RCV000515291 RCV000763165
Lymphatic malformation	Pathogenic	rs2535998776	RCV003445403
Malignant lymphoma, large B-cell, diffuse	Pathogenic	rs869025340	RCV003448979
Melanoma	Pathogenic; Likely pathogenic	rs180177042, rs869025340, rs113488022	RCV004798786 RCV004798811 RCV005888882
Myoepithelial tumor	Likely pathogenic	rs121913378	RCV002463625
Nasopharyngeal carcinoma	Pathogenic	rs121913355	RCV006253618
Neoplasm	Likely pathogenic; Pathogenic	rs121913370, rs121913364, rs121913355, rs121913338	RCV006273568 RCV005229793 RCV006273057 RCV005229794 RCV006273058
Neoplasm of the large intestine	Pathogenic	rs727502902	RCV000150195
Neuroblastoma	Pathogenic	rs121913364, rs121913366, rs121913355	RCV006253614 RCV006253616 RCV006253617
Neurodevelopmental delay	Pathogenic; Likely pathogenic	rs397507466, rs397516892	RCV002273939 RCV002273942
Non-Hodgkin lymphoma	Likely pathogenic; Pathogenic	rs121913357, rs121913355, rs121913338	RCV000015004 RCV000015005 RCV000015006
Non-small cell lung carcinoma	Likely pathogenic; Pathogenic	rs121913370, rs121913357, rs727502902, rs121913364, rs121913351, rs121913369, rs121913355, rs121913338, rs121913348, rs121913353, rs397516890, rs397516896, rs121913378, rs397516897	RCV000154399 RCV000154398 RCV000150195 RCV000037938 RCV000037916 RCV000015003 RCV000150210 RCV000037932 RCV000037914 RCV000037915 RCV000037918 RCV000037919 RCV000037931 RCV000037934 RCV000037935 RCV000037937
Noonan syndrome	Pathogenic; Likely pathogenic	rs180177036, rs397516903, rs121913348, rs180177034, rs121913369, rs180177038, rs387906660, rs397507469, rs180177039, rs397507477, rs397507483, rs121913375, rs121913364, rs397516891, rs397507484, rs397516904, rs397516905, rs397509343 View all (3 more)	RCV000844617 RCV000824913 RCV000844618 RCV000033285 RCV000033333 RCV000211749 RCV000844616 RCV000211753 RCV000033288 RCV001261045 RCV000824923 RCV000844615 RCV000824927 RCV000150201 RCV000037920 RCV000037939 RCV000037953 RCV000824912 RCV000824915 RCV000037962 RCV000824914
Noonan syndrome 1	Pathogenic; Likely pathogenic	rs180177042, rs397516903, rs397509343, rs180177034, rs121913369, rs180177035, rs121913355, rs180177040, rs387906660, rs387906661, rs606231228, rs397507466, rs397516895	RCV000999624 RCV001803101 RCV003454374 RCV003150930 RCV000208539 RCV001813744 RCV003450641 RCV003450642 RCV000763164 RCV000208540 RCV000208548 RCV000515363 RCV000208560 RCV000515291 RCV000763165
Noonan syndrome 7	Likely pathogenic; Pathogenic	rs2129044284, rs121913341, rs180177042, rs397516903, rs869025340, rs180177034, rs121913369, rs180177035, rs121913355, rs180177040, rs387906660, rs387906661, rs606231228, rs397507466, rs397507484, rs397516895, rs397507478 View all (2 more)	RCV002468641 RCV005252774 RCV004783752 RCV001808428 RCV001781616 RCV003338381 RCV000030948 RCV001261967 RCV002287336 RCV005603587 RCV000763164 RCV000022678 RCV000022679 RCV000515363 RCV000022682 RCV000515291 RCV002510565 RCV000763165 RCV000824993
Noonan syndrome and Noonan-related syndrome	Likely pathogenic; Pathogenic	rs121913357, rs397516903, rs121913369, rs180177035, rs121913355, rs180177037, rs397507466, rs397507467, rs121913348, rs397507473, rs397507475, rs397507480, rs397509343	RCV001813396 RCV000788010 RCV001813207 RCV001813208 RCV001813209 RCV001813210 RCV000788013 RCV000788012 RCV000788011 RCV001813221 RCV001813222 RCV001813223 RCV001813224 RCV000788008 RCV000788009
Noonan syndrome with multiple lentigines	Likely pathogenic; Pathogenic	rs387906661, rs397507466	RCV000055896 RCV000055897
Ovarian Sertoli-Leydig cell tumor	Likely pathogenic; Pathogenic	rs121913348	RCV006253709
PHACE syndrome	Likely pathogenic; Pathogenic	rs180177041	RCV000779634
Pilocytic astrocytoma	Pathogenic; Likely pathogenic	rs727502902, rs397516896, rs397516897	RCV006253835 RCV006253739 RCV006253740
Pineoblastoma	Pathogenic	rs2128999571	RCV006254305
Prostate cancer, hereditary, 1	Likely pathogenic; Pathogenic	rs794729219, rs121913349, rs397516896	RCV002291588 RCV002291625 RCV002291550
RASopathy	Likely pathogenic; Pathogenic	rs2129044284, rs2129018408, rs121913341, rs180177036, rs180177042, rs397516904, rs397516903, rs794729219, rs121913375, rs121913348, rs180177034, rs121913369, rs121913338, rs180177035, rs121913355 View all (31 more)	RCV002034598 RCV005095821 RCV000522002 RCV000154481 RCV000689333 RCV000205969 RCV001212304 RCV000809145 RCV002516942 RCV001172278 RCV000033304 RCV001047900 RCV002513056 RCV001238853 RCV000033289 RCV000033307 RCV001172276 RCV000779848 RCV000033315 RCV000808147 RCV000474979 RCV001851863 RCV003540440 RCV000694211 RCV000796335 RCV000545320 RCV002513171 RCV000654966 RCV000191066 RCV000804367 RCV000469440 RCV000688777 RCV003539763 RCV003539764 RCV001193980 RCV000033302 RCV000797502 RCV000654957 RCV001172275 RCV000822490 RCV001852671 RCV002513320 RCV000521124 RCV000033332 RCV001172273 RCV000798913 RCV000033336 RCV003539770 RCV002531885 RCV001852794 RCV003539772 RCV000807047 RCV002513490 RCV001852795 RCV000736078 RCV000697258 RCV000736073 RCV000799408 RCV001856262 RCV001384671
See cases	Likely pathogenic; Pathogenic	rs397507473	RCV002251944
Tethered cord	Likely pathogenic; Pathogenic	rs180177041	RCV000779634
Thyroid cancer, nonmedullary, 1	Pathogenic	rs113488022	RCV005888881
Thyroid cancer, nonmedullary, 2	Pathogenic	rs121913364	RCV000015000
Vascular malformation	Pathogenic; Likely pathogenic	rs2129019628, rs121913353	RCV003493322 RCV004562228

Show/Hide Unknown Diseases (42)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Conflicting classifications of pathogenicity	rs956143558	RCV005900801
Alveolar rhabdomyosarcoma	Conflicting classifications of pathogenicity	rs113488022	RCV006253601
Astrocytoma, low-grade, somatic	Conflicting classifications of pathogenicity	rs113488022	RCV000014994
Benign metanephric tumor	Conflicting classifications of pathogenicity	rs113488022	RCV006253612
BRAF-related spectrum disorder	Uncertain significance	rs2129062291	RCV001795611
Cardiomyopathy	Benign	rs397507456	RCV000853030
Cervical cancer	Benign; Conflicting classifications of pathogenicity	rs1250320814, rs956143558	RCV005924676 RCV005900803
Cholangiocarcinoma	Benign; Likely benign	rs368721021	RCV005890588
Congenital long QT syndrome	Conflicting classifications of pathogenicity	rs373442098	RCV004732585
Costello syndrome	Conflicting classifications of pathogenicity; Uncertain significance	rs878854675, rs180177037	RCV001261046 RCV000824922
Cystic epithelial invagination containing papillae lined by columnar epithelium	Conflicting classifications of pathogenicity	rs113488022	RCV000662278
Dabrafenib response	drug response	rs1586126439	RCV000824811
Diffuse leptomeningeal glioneuronal tumor	Conflicting classifications of pathogenicity	rs113488022	RCV006253608
	Conflicting classifications of pathogenicity	rs113488022	RCV006253611
Diffuse midline glioma, H3 K27-altered	Uncertain significance	rs757446039	RCV004776309
Diffuse midline glioma, H3 K27M-mutant	Conflicting classifications of pathogenicity	rs113488022	RCV006253605
Dysembryoplastic neuroepithelial tumor	Conflicting classifications of pathogenicity	rs113488022	RCV006253613
Endometrial carcinoma	Uncertain significance	rs104886015	RCV000119353
Epidermal nevus	Conflicting classifications of pathogenicity	rs121913351	RCV005863136
Epithelioid Glioblastoma	Conflicting classifications of pathogenicity	rs113488022	RCV005630705
Familial cancer of breast	Likely benign; Benign	rs750297886, rs1250320814	RCV005917754 RCV005924674
Global developmental delay	Conflicting classifications of pathogenicity	rs1325951163	RCV000626860
Hypertrophic cardiomyopathy	Uncertain significance	rs199927105	RCV000852578
IDH-wildtype glioblastoma	Conflicting classifications of pathogenicity	rs113488022	RCV006253607
Intellectual disability	Uncertain significance; Conflicting classifications of pathogenicity	rs2129153395, rs956143558	RCV002261477 RCV005625591
Lymphangioma	Conflicting classifications of pathogenicity	rs113488022	RCV002051586
Malignant glioma	Conflicting classifications of pathogenicity	rs113488022	RCV006253604
Malignant neoplastic disease	Conflicting classifications of pathogenicity	rs113488022	RCV001254874
Malignant peripheral nerve sheath tumor	Conflicting classifications of pathogenicity	rs113488022	RCV006253606
Malignant tumor of esophagus	Benign; Conflicting classifications of pathogenicity	rs1250320814, rs956143558	RCV005924675 RCV005900802
Multiple myeloma	Conflicting classifications of pathogenicity	rs113488022	RCV000430562
Nephroblastoma	Conflicting classifications of pathogenicity	rs113488022	RCV001248834
Nodular ganglioneuroblastoma	Conflicting classifications of pathogenicity	rs113488022	RCV006253609
Nongerminomatous germ cell tumor	Conflicting classifications of pathogenicity	rs113488022	RCV000022677
Nonpapillary renal cell carcinoma	Conflicting classifications of pathogenicity	rs750556299	RCV005935032
Papillary thyroid carcinoma	Conflicting classifications of pathogenicity	rs113488022	RCV000014993
Pleomorphic xanthoastrocytoma	Conflicting classifications of pathogenicity	rs113488022	RCV006253602
Polymorphous low grade neuroepithelial tumor of the young	Conflicting classifications of pathogenicity	rs113488022	RCV006253610
Primary dilated cardiomyopathy	Conflicting classifications of pathogenicity	rs745783052, rs397507458	RCV003319228 RCV000853029
Spindle cell sarcoma	Conflicting classifications of pathogenicity	rs113488022	RCV005630704
Spitz Melanocytoma	Uncertain significance	rs121913227	RCV006253960
Thyroid gland undifferentiated (anaplastic) carcinoma	Conflicting classifications of pathogenicity	rs113488022	RCV004719648

Show/Hide Text Mining Associations (557)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Abdominal Injuries	Associate	36003386
Abdominal Pain	Associate	37358854
Aberrant Crypt Foci	Associate	15793287, 25314065, 29222172
Abnormalities Drug Induced	Associate	38066633
Absent Eyebrows and Eyelashes with Mental Retardation	Associate	37697378
Accessory Atrioventricular Bundle	Associate	37352472
Acromegaly	Associate	25329702
ACTH Secreting Pituitary Adenoma	Associate	30093687
Acute erythroleukemia	Associate	30385823
Adenoameloblastoma	Associate	37093491
Adenocarcinoma	Associate	15729718, 19881948, 20237991, 20881644, 21102258, 21285991, 21457162, 22314188, 22768234, 23196793, 23469219, 23988776, 24196786, 24297085, 24500884 View all (26 more)
Adenocarcinoma Bronchiolo Alveolar	Associate	29846186, 32991441, 33400370
Adenocarcinoma Follicular	Associate	25120313, 34613404, 36613940, 36835466, 39288226, 39420942
Adenocarcinoma in Situ	Associate	33706781
Adenocarcinoma Mucinous	Associate	16118624, 16403224, 21285991, 22314188, 22481281, 22522845, 24367680, 24737664, 25632202, 25663779, 25886136, 25929517, 26153495, 26575603, 27914130 View all (8 more)
Adenocarcinoma Mucinous	Stimulate	22712570
Adenocarcinoma of Lung	Associate	17459062, 17487277, 21483012, 22317764, 22975805, 23131393, 23328547, 23988776, 24369052, 24742923, 25198510, 25273224, 25436800, 25567908, 25789627 View all (51 more)
Adenolymphoma	Associate	26191315
Adenoma	Associate	15729718, 15793287, 16937524, 17143260, 17923875, 18567071, 18782444, 19745699, 21263251, 21423154, 22115708, 22727996, 22912351, 23919615, 24512911 View all (22 more)
Adenoma Islet Cell	Associate	17086168, 20492682, 23539450, 27811854, 28542846, 32225169
Adenoma Oxyphilic	Associate	33045146
Adenoma Pleomorphic	Associate	33838468
Adenomatoid Tumor	Associate	28580939
Adenomatous Polyposis Coli	Associate	17273161, 19440799, 21641392, 22481281, 23599153, 27563825, 32024448, 33230914, 34623039, 36295658, 37352472, 37477913
Adrenocortical Carcinoma	Associate	35462410
Alzheimer Disease	Associate	34367470
Ameloblastoma	Associate	24374844, 24859340, 25854168, 28658279, 29388014, 30208863, 30216733, 30811720, 31340860, 32096304, 32388526, 32643344, 33144428, 33395399, 35468886 View all (10 more)
Anaplasia	Associate	25318587
Anaplastic small cell lymphoma	Associate	27834723
Androgen Insensitivity Syndrome	Associate	35641658
Anemia	Associate	37358854
Aneuploidy	Associate	16988471
Anodontia	Associate	15247181, 15342696, 18451217, 18718023, 19127559, 20444249, 25341111, 28405764, 31243121, 33429770, 33675399, 35567913, 37023721, 38372057
Anodontia	Inhibit	31070306
Arteriovenous Malformations	Associate	34879709
Arthralgia	Associate	22554099
Arthritis Rheumatoid	Associate	20843808, 22615393
Arthropathy progressive pseudorheumatoid of childhood	Associate	26115961, 26222501
Ascites	Associate	27956538
Asthenia	Associate	27080216
Astrocytoma	Associate	18398503, 19016743, 19603027, 19794125, 20068183, 20730472, 21046410, 21113787, 21479234, 21636552, 21884820, 22157620, 22385786, 22568401, 22720693 View all (71 more)
Astrocytoma	Stimulate	20853079
Ataxia Microcephaly Cataract Syndrome	Associate	30385823
Ataxia Telangiectasia	Associate	19500021, 26189429, 31127889, 36617605, 37219859
Atresia of small intestine	Associate	21297586, 26892442
Atrial myxoma familial	Associate	33438848
Atrophy	Associate	32227455
Atypical Squamous Cells of the Cervix	Associate	22887810, 24619974, 26166089, 29469940
Autoimmune Diseases	Associate	32131760
Axial osteomalacia	Associate	36701845
Beta ketothiolase deficiency	Associate	20952593, 23883275, 24297791
Bile Duct Neoplasms	Associate	36867406
Biliary Tract Diseases	Associate	27745798
Biliary Tract Neoplasms	Associate	24309328, 30908307, 32100259, 33095329, 35583261, 36089135, 36715178, 37059834
Blau syndrome	Associate	22506009
Bone Diseases	Associate	28679432, 36083130, 39727013
Bone Marrow Diseases	Associate	27541170, 35978321
Brain Diseases	Associate	28721890, 33578538, 40411977
Brain Neoplasms	Associate	20156809, 22385786, 24353007, 24823863, 24968695, 25484091, 25956405, 25991583, 26077004, 26457492, 26597176, 27251777, 27350555, 27529619, 27984673 View all (25 more)
Breast Neoplasms	Associate	17314276, 19572105, 22252751, 23907581, 24489661, 25757876, 26577839, 26600545, 26661278, 27108388, 27350555, 30443844, 32348852
Breast Neoplasms	Stimulate	31883527
Bronchial Diseases	Associate	33443864
Burkitt Lymphoma	Associate	39793164
Bursitis	Associate	34007838, 34806478
Cachexia	Associate	26189429
Calcinosis	Associate	28687736, 35879379, 37632946, 38066305
Calcinosis Cutis	Associate	15184373, 22180178, 22235286, 22481281, 22536370, 22912864, 23031422, 23036672, 23358426, 23406731, 23533233, 23651150, 24265153, 24737664, 25069797 View all (48 more)
Calcinosis Cutis	Inhibit	25360634
Carcinogenesis	Associate	12692057, 15729718, 18470905, 21185263, 22039425, 22258409, 22918165, 23449277, 24139215, 24300435, 24918610, 25502816, 25618114, 25890285, 26125698 View all (19 more)
Carcinoid Tumor	Associate	35821888, 40234130
Carcinoma	Associate	17453004, 21113787, 22809251, 24051699, 24422672, 26189429, 28552827, 28731042, 28875621, 28990704, 30051528, 33664427, 33761111, 33850302, 34120511 View all (4 more)
Carcinoma	Stimulate	28343447
Carcinoma Acinar Cell	Associate	28884748, 31558784, 32843432
Carcinoma Adenoid Cystic	Associate	23398044
Carcinoma Adenosquamous	Associate	26923333, 32639612, 36790480
Carcinoma Basal Cell	Associate	21274671, 27080216
Carcinoma Ductal	Associate	27108388, 30813596
Carcinoma Ductal Breast	Associate	31924734
Carcinoma Hepatocellular	Associate	22190283, 22258409, 26586395, 26758762, 29487225, 30981109, 31363003, 34007838, 34069882, 34909843, 35163468, 36122630
Carcinoma Large Cell	Associate	23196793, 26430808, 34969785
Carcinoma Medullary	Associate	25120313, 37746995
Carcinoma Neuroendocrine	Associate	27048246, 31557757, 34614142, 34647903
Carcinoma Non Small Cell Lung	Associate	17409805, 19010912, 20881644, 20925915, 21408138, 21483012, 22430133, 22649091, 23131393, 23154547, 23833300, 23930206, 24297085, 24550319, 24594201 View all (110 more)
Carcinoma Ovarian Epithelial	Associate	18794094
Carcinoma Pancreatic Ductal	Associate	19440799, 24293293, 25855536, 29903880, 34667063, 35302596, 38246222, 40274200
Carcinoma Papillary	Associate	16983703, 18753707, 19837916, 21498916, 21751431, 23752636, 24248188, 24591408, 24591770, 25120313, 25879531, 26718882, 28049366, 28552827, 28731042 View all (8 more)
Carcinoma Papillary Follicular	Associate	25148236, 25648502, 28192645, 29962924, 32606114, 33299111, 36906579
Carcinoma Renal Cell	Associate	19349352, 22727996, 27174587, 30200918, 31534204, 32639612, 33664427
Carcinoma Signet Ring Cell	Associate	22522845, 27914130
Carcinoma Small Cell	Associate	28951314
Carcinoma Squamous Cell	Associate	17409805, 20237991, 20881644, 24297085, 24943872, 25589618, 25724524, 26084614, 27283860, 30279110, 32284020, 32362631, 33162799, 34678532, 39333222
Carcinoma Transitional Cell	Associate	19404918, 20853079
Carcinosarcoma	Associate	29620581, 37530323
Cardiofaciocutaneous syndrome	Associate	17056636, 17483702, 18039235, 18854871, 19096106, 19156172, 19206169, 20186801, 21062266, 21495173, 23379592, 26784941, 27569062, 27799561, 29084544 View all (9 more)
Cardiomyopathy Dilated 1l	Associate	35189530
Cardiomyopathy Hypertrophic	Associate	26784941, 27569062, 29696744, 30732632
Cardiomyopathy infantile histiocytoid	Associate	36835466
Cardiotoxicity	Associate	38062767
Cardiovascular Diseases	Associate	36896641, 37534686, 37809108
Carney Stratakis Syndrome	Associate	22948025
Carney Triad	Associate	22948025
Cecal Neoplasms	Associate	36352809
Cell Transformation Neoplastic	Associate	19881948, 38372057
Central Nervous System Diseases	Associate	24725538, 31685033
Central Nervous System Neoplasms	Associate	19936769, 22157620, 24725538, 24823863, 25484091, 26115961, 26681766, 31515514, 31685033, 32879641
Cerebellar Neoplasms	Associate	20044755
Cerebral Amyloid Angiopathy Familial	Associate	37071871
Chemical and Drug Induced Liver Injury	Associate	24508103, 37358854
Cholangiocarcinoma	Associate	12692057, 24139215, 24309328, 24867389, 25536104, 26189129, 27745798, 29622700, 30908307, 35986087, 36282887, 36867406, 39273408, 40163685
Cholelithiasis	Associate	37620872
Chorea Gravidarum	Associate	32271498
Choristoma	Associate	33466206
Chromosomal Instability	Associate	20485284, 24651849, 37364232
Chromosome 7 ring syndrome	Associate	33522711
Chromosome Disorders	Associate	18517279, 23110075
Clear cell metastatic renal cell carcinoma	Associate	36347549
Coenzyme Q10 Deficiency	Associate	19096106
Colonic Diseases	Associate	21423154, 23382536, 23887306, 28533659, 34647903
Colonic Neoplasms	Associate	18339877, 18767147, 19843849, 19881948, 21457162, 21738740, 22314188, 22376079, 22869096, 23006938, 23469219, 23606169, 23657789, 23792567, 24244575 View all (20 more)
Colonic Polyps	Associate	16879389, 16937524, 18782444, 26910894, 27930579, 28533659, 28953955
Colorectal Neoplasms	Associate	15247181, 15342696, 15729718, 15790700, 16015629, 16403224, 16988471, 17065421, 17086168, 17239930, 17251336, 17393356, 17474983, 17663506, 17923875 View all (714 more)
Colorectal Neoplasms Hereditary Nonpolyposis	Associate	17065421, 18556776, 19213871, 21768580, 22120844, 22274583, 22481281, 23797718, 24157612, 24196786, 25005754, 25153715, 25280751, 25557234, 27152634 View all (13 more)
Communicable Diseases	Associate	28253394
Complement Component 7 Deficiency	Associate	32384877
Confusion	Associate	27283860
Congenital Hypothyroidism	Associate	27834723, 35556126
Congenital myasthenic syndrome ib	Associate	29518181
Congenital thrombotic disease due to Protein C deficiency	Associate	21751431
Conjunctival Diseases	Associate	29332123
Costello Syndrome	Associate	17704260
Craniopharyngioma	Associate	24413733, 25412847, 26498373, 26927026, 28425764, 28486603, 28918496, 29509940, 30069716, 30616515, 31314136, 33420213, 33967180, 34922552, 35707464 View all (4 more)
Crazy paving pattern	Associate	36029220
Cryptorchidism	Associate	29752777
Cystadenoma Papillary	Associate	28488545
Cystadenoma Serous	Associate	27141064, 28488545
Cysts	Associate	26253305, 39216028
Cytomegalovirus Infections	Associate	24559116
Death	Associate	22039425, 23374602, 23571588, 25153715, 25942399, 27737491, 28423545, 29169325, 29970025, 30543563, 31151904, 33580200, 38062767
Dendritic Cell Sarcoma Follicular	Associate	26564005
Desmoplastic cerebral astrocytoma of infancy	Associate	27860162, 30006355, 35725578, 36333774
Developmental Disabilities	Associate	30355600
Diabetes Insipidus Neurogenic	Associate	27760550, 34459688
Dianzani autoimmune lymphoproliferative syndrome	Associate	25923053
Diarrhea	Associate	22554099, 34331515, 35654691
Diarrhea 5 With Tufting Enteropathy Congenital	Associate	22912351
Diastrophic dysplasia	Associate	22820187
DiGeorge Syndrome	Associate	20730472
Diplopia	Associate	39584754
Disease	Associate	16555619, 20519626, 25319388, 26871591, 34797941, 37809108, 40104288
Disease Progression	Associate	36407316
Disseminated Intravascular Coagulation	Associate	30936351
Drug Eruptions	Associate	22609219
Drug Related Side Effects and Adverse Reactions	Inhibit	27911979
Drug Related Side Effects and Adverse Reactions	Associate	29037218, 32345725
Drug Resistant Epilepsy	Associate	20925915, 30256977, 31358956
Dupuytren Contracture	Associate	26152183
Dysplastic Nevus Syndrome	Associate	25607474
Ectodermal Dysplasia	Associate	20824047, 34614142, 35949061
Ectrodactyly	Associate	34077954
Encephalitis	Associate	34227206
Encephalitis Herpes Simplex	Associate	30042065
Endometrial Hyperplasia	Associate	28951454, 30121391
Endometrial Neoplasms	Associate	17170014, 17388789, 27898420
Endometriosis	Associate	29286077
Enteritis	Associate	34955547
Eosinophilic Esophagitis	Associate	24920534
Epidermal Nevus	Associate	25857817, 37716647
Epidermolysis bullosa with pyloric atresia	Associate	20044755, 26083571
Epilepsies Partial	Associate	29701169
Epilepsy	Associate	27984807, 34573299, 36226386, 36307486
Epilepsy Familial Mesial Temporal Lobe	Associate	37126322
Epilepsy Temporal Lobe	Associate	23096133
Epileptic Encephalopathy Early Infantile 3	Associate	31581174
Epstein Barr Virus Infections	Associate	33297669
Erdheim Chester Disease	Associate	22879539, 23258922, 24894769, 25003820, 25150293, 25324352, 25926131, 26110571, 27196481, 27227923, 27488869, 27863426, 27940476, 28253394, 28455460 View all (30 more)
Erythema Ab Igne	Associate	30876455
Esophageal Neoplasms	Associate	15796777, 22039425, 22870241
Esophageal Squamous Cell Carcinoma	Associate	22870241, 33054840, 33880577
Esophagitis	Associate	22870241
Euthyroid Sick Syndromes	Associate	24737664
Exanthema	Associate	21283802, 24508103, 31151904, 33646525, 37358854
Exfoliation Syndrome	Associate	19414674, 25712893
Extranodal Extension	Associate	30903583
Familial medullary thyroid carcinoma	Associate	26530882
Feeding and Eating Disorders	Associate	27283860
Female Urogenital Diseases	Associate	30028779
Fever	Associate	25265492, 27283860
Fever of Unknown Origin	Associate	37922692
Fibroma	Associate	32966885
Fibroma Desmoplastic	Associate	34056541
Fibromatosis Aggressive	Associate	27062580, 27713418, 32099073
Fibrosarcoma	Associate	24436311, 28877062, 29915264, 30633154, 31747139, 32966885, 33109619, 33850302, 34120511, 39475028
Fibrosis	Associate	21882177, 26271724
Florid cemento osseous dysplasia	Associate	36707318
Florid cystic endosalpingiosis of the uterus	Associate	31576556
Focal cortical dysplasia of Taylor	Associate	40282380
Follicular Cyst	Associate	26020381, 31821746
Gallbladder Neoplasms	Associate	38092180
Ganglioglioma	Associate	20156809, 23442159, 23941441, 24238153, 24529209, 25015869, 25524464, 26115961, 26680369, 26810070, 27671879, 27791984, 27860162, 27984673, 28879901 View all (11 more)
Gastro enteropancreatic neuroendocrine tumor	Associate	26684240
Gastrointestinal Diseases	Inhibit	34436699
Gastrointestinal Neoplasms	Associate	40163685
Gastrointestinal Stromal Tumors	Associate	18615679, 21663639, 22948025, 23470635, 25885906, 27097112, 27974047, 29523662, 31792037, 32236636, 34398495, 35904169, 37454137
Gaucher like disease	Associate	33727167, 36827302
Genetic Diseases Inborn	Associate	15796777, 21179278, 24346091, 24417340, 27812792, 29802359
Genetic Predisposition to Disease	Associate	32143579
Glioblastoma	Associate	22385786, 24127995, 24354918, 24725538, 25256166, 25581727, 25885250, 26238627, 26452024, 27350555, 27579614, 28984141, 28990704, 29039591, 29105198 View all (13 more)
Glioma	Associate	19924296, 20156809, 21884820, 22157620, 22492957, 22568401, 22591444, 22821383, 22892521, 23429363, 23592488, 24767714, 25040262, 25581727, 25618114 View all (46 more)
Gliosarcoma	Associate	27350555, 34504233, 35381788
Glomus Tumor	Associate	39392364
Glutaric Acidemia I	Associate	30758123
Glycogen Storage Disease IIIC	Associate	28475671, 31663466
Glycogen Storage Disease Type IV	Associate	27350555, 37071871
Granuloma	Associate	22506009
Granuloma Pyogenic	Associate	26802240
Granulomatosis with Polyangiitis	Associate	32131760
Grover's disease	Associate	22609219
Growth Disorders	Associate	34459688, 37697378
Hamartoma Syndrome Multiple	Associate	39316756
Harlequin syndrome	Associate	22799316
Hashimoto Disease	Associate	22457234, 23687957, 28687736, 29316976, 30666518, 30916170, 33879712, 34256769, 34659127, 37519275, 40269951
Head and Neck Neoplasms	Associate	20237991, 23398044, 25589618, 29772524, 31277584
Headache	Associate	32011515, 34969785
Heart Diseases	Associate	24812130, 26784941
Hemangioendothelioma	Associate	30459475
Hemangiosarcoma	Associate	26440310, 31805975
Hematologic Diseases	Associate	28253394
Hematologic Neoplasms	Associate	32918774
Hemianopsia	Associate	28686121
Hemic and Lymphatic Diseases	Associate	26027995
Hemorrhage	Associate	27283860, 34857025, 35362874, 40033809
Hepatitis C	Associate	34909843
Hepatitis E	Associate	33009979
Hereditary Breast and Ovarian Cancer Syndrome	Associate	38096472
Hereditary Motor And Sensory Neuropathy Type IIC	Associate	37665297
Hereditary pancreatitis	Associate	15793287
Histiocytic Disorders Malignant	Associate	25324352
Histiocytic Sarcoma	Associate	28376906, 30626916, 31439678, 37115038
Histiocytosis	Associate	26566875, 29100009, 31685033, 31768065, 36857436, 37809108
Histiocytosis Langerhans Cell	Associate	20519626, 22506009, 22859608, 22879539, 23258922, 24436311, 24894769, 24982505, 25202140, 25324352, 25441388, 26110571, 26637773, 27076591, 27094161 View all (48 more)
Histiocytosis Non Langerhans Cell	Associate	27488869, 31015311
Histiocytosis Sinus	Associate	31213430, 37809108
Hodgkin Disease	Associate	30653166
Hutchinson's Melanotic Freckle	Associate	16117801, 25051202
Hydrocephalus	Stimulate	35863783
Hydrocephalus	Associate	35863783
Hypereosinophilic Syndrome	Associate	28829677
Hyperlipoproteinemia Type II	Associate	37543207
Hyperparathyroidism Primary	Associate	24879726
Hyperpigmentation	Associate	31882511
Hyperplasia	Associate	17273161
Hypersensitivity Immediate	Associate	31276506
Hypertension	Associate	37318592, 39342349
Hypertensive Retinopathy	Associate	37534686
Hyperthyroidism	Associate	24879726
Hypertrophy	Associate	27569062
Hypesthesia	Associate	33578538, 35130969
Hypocalcemia	Associate	40033809
Hypospadias	Associate	35606856
Hypothalamic Diseases	Associate	28836232
Hypothalamic Neoplasms	Associate	33119105, 39216028
Hypothyroidism	Associate	30069716, 32995956
Hypoxia Brain	Associate	19843849
Idiopathic Noncirrhotic Portal Hypertension	Associate	34909843
Infarction	Associate	29868707
Infections	Associate	28253394
Inflammation	Associate	16799476, 22481281, 24297791, 26189429, 29654269, 30254191, 34132762, 35658861
Infratentorial Neoplasms	Associate	23702730
Intellectual Disability	Associate	40282380
Intestinal Neoplasms	Associate	26684240
Intestinal Polyposis	Associate	15793287, 27430658
Intracranial Arteriovenous Malformations	Associate	31891627
Intracranial Hypertension	Associate	35812382
Keratoacanthoma	Associate	22609219, 24508103, 26319365
Keratosis	Associate	17159915, 22609219, 26319365
Keratosis Actinic	Associate	26807515
Kidney Diseases	Associate	22727996
Kidney Failure Chronic	Associate	20975100, 22931913, 24737664, 25051202
Kidney Neoplasms	Associate	25602792
Langerhans Cell Sarcoma	Associate	24938183, 35645053
Laurin Sandrow syndrome	Associate	32791233
Legius syndrome	Associate	27503857
Leigh Disease	Associate	19206169
LEOPARD Syndrome	Associate	19206169, 29084544
Lesch Nyhan Syndrome	Associate	25490715
Leukemia	Associate	17483702, 22028477, 24589925, 28816792
Leukemia Hairy Cell	Associate	21663470, 21910720, 22028477, 22072557, 22133769, 22210875, 22212971, 22331186, 22706871, 23313362, 23347903, 23349307, 23971860, 24277451, 24433452 View all (36 more)
Leukemia Lymphocytic Chronic B Cell	Associate	19383911, 21979753, 23349307, 24549645, 25329694, 25523272, 26393354, 26870997, 28873354, 29273082, 29463802, 29770477, 30262568, 30565721, 30807786 View all (8 more)
Leukemia Monocytic Acute	Associate	30936351
Leukemia Myeloid Acute	Associate	23971860, 24446311, 26941398, 27637326, 30936351, 39273530
Leukemia Myelomonocytic Chronic	Associate	24446311, 30936351
Leukemia Plasma Cell	Associate	35770320
Leukemia T Cell	Associate	33190264
Leukemic Infiltration	Associate	30936351
Leukemoid Reaction	Associate	25576527
Liver Failure	Inhibit	34797941
Liver Neoplasms	Associate	12692057
Lown Ganong Levine Syndrome	Associate	23248257
Lung Diseases	Associate	22744255, 25198510, 26102513, 27076591, 31766881, 36083130, 37364156, 39420942
Lung Neoplasms	Associate	19010912, 21483012, 22649091, 22689099, 22773810, 23817662, 24236184, 24297085, 24550319, 24743704, 25273224, 25436800, 25706985, 25894373, 25985019 View all (34 more)
Lymphatic Diseases	Associate	26784937
Lymphatic Metastasis	Associate	17060774, 17685465, 17717450, 17972530, 18676742, 19152441, 19414674, 21456008, 22314188, 22431868, 22471242, 22481281, 22524468, 22681706, 22918165 View all (67 more)
Lymphatic Metastasis	Stimulate	27936049
Lymphoma	Associate	21910720, 22575864, 31924734, 33735913
Lymphoma B Cell	Associate	22072557, 25329694
Lymphoma B Cell Marginal Zone	Associate	22133769, 28376906, 29556019, 34952945, 35064935
Lymphoma Follicular	Associate	26457492
Lymphoma Large B Cell Diffuse	Associate	22343534, 22575864, 29857068
Lymphoma Mantle Cell	Associate	27277113, 29973234
Lymphoma Non Hodgkin	Associate	14612909, 21263251, 23881924, 24767714, 25040262, 25667294, 28727518, 29084603, 29763623, 31346129, 31391125, 32788236, 33153497, 33346834, 34568720 View all (8 more)
Lymphoma Primary Effusion	Associate	15705790
Lymphoma T Cell Cutaneous	Associate	26551667
Lymphoproliferative Disorders	Associate	22133769
Macrophage Activation Syndrome	Associate	35379272
Mandibular Injuries	Associate	35468886, 35676332
Mandibular Neoplasms	Associate	29388014
MASS syndrome	Associate	22727996, 26197800
Mastocytosis Systemic	Associate	31685033
Melanocytic nevus syndrome congenital	Associate	24129063, 31111470, 32847629, 35577105, 36085074, 37716647
Melanoma	Associate	12150818, 12821662, 12917419, 14691295, 14708620, 15009714, 15140228, 15145934, 15184373, 15191558, 15330192, 15361259, 15373778, 15503312, 15515191 View all (1060 more)
Melanoma	Inhibit	29360604, 30657954, 39240541
Melanoma	Stimulate	30835257, 32562785
Melanoma Amelanotic	Associate	31432325, 34433708
Melanoma Cutaneous Malignant	Associate	12778069, 12917419, 14691295, 15009714, 15060100, 15181454, 15641040, 15935100, 16098042, 16417231, 16452469, 16799476, 17404088, 17690212, 18679422 View all (65 more)
Melorheostosis	Associate	26854490
Meningeal Neoplasms	Associate	23358426, 25962795, 29039591, 29802359, 30770994, 32571131, 32605662, 33904364, 34493325
Meningism	Associate	26352988
Mental Disorders	Associate	35874752
Metaplasia	Associate	33252399
Methylmalonic Aciduria due to Methylmalonyl CoA Mutase Deficiency	Associate	24297791
Microcephaly	Associate	35577105
Microsatellite Instability	Stimulate	16407376, 32264863, 33028695, 35522613
Microsatellite Instability	Associate	17962726, 18782444, 19127559, 20233436, 21457162, 21645411, 22147942, 22278153, 22302899, 22684223, 23110075, 23414134, 23741067, 23773459, 23878352 View all (23 more)
Midline granulomatosis	Associate	27984673
Mixed Tumor Malignant	Associate	28059096
Mouth Diseases	Associate	16799476, 17685465, 21768778, 23539450, 23941441, 25360634, 26319365, 27009410, 29974407, 33712927, 34142226, 36070149, 36419139
Mouth Neoplasms	Associate	21704278, 30208863
Mucositis	Associate	37358854
Multiple Myeloma	Associate	21430775, 21910720, 24335104, 24434212, 25794135, 25894462, 26090869, 27458004, 27634910, 27863261, 28380360, 28385781, 29563506, 29654269, 29884741 View all (15 more)
Multiple Pulmonary Nodules	Associate	32238401, 36029220
Multiple Sclerosis	Associate	32750121
Multiple Sclerosis	Stimulate	34308699
Multiple System Atrophy	Associate	34936247
Muscular Diseases	Associate	33818860
Muscular dystrophy congenital with central nervous system involvement	Associate	22180178, 31748352, 32043788, 37364599
Musculoskeletal Diseases	Associate	39334445
Myelodysplastic Syndromes	Associate	36754028
Myeloproliferative Disorder Chronic with Eosinophilia	Associate	24938183
Myopericytoma	Associate	25063326
Myositis	Associate	29027536
Myotonic Dystrophy	Associate	37922948
Nasopharyngeal Carcinoma	Associate	25963410, 31664962
Nausea	Associate	27283860
Neoplasm Invasiveness	Associate	19037234, 25400776, 26943032, 27936049, 39178758
Neoplasm Invasiveness	Stimulate	27936049
Neoplasm Metastasis	Associate	15009714, 15515191, 15935100, 16098042, 16098043, 17387744, 17717450, 18532874, 19487299, 22039425, 23190890, 23555633, 23617638, 23741067, 23755178 View all (113 more)
Neoplasm Metastasis	Inhibit	21456008
Neoplasms	Associate	12917419, 14612909, 15181454, 15195111, 15247181, 15342696, 15515191, 15790700, 15793287, 15796777, 16015629, 16098043, 16354196, 16364920, 16403224 View all (1006 more)
Neoplasms	Stimulate	20421454, 20703476, 22558328, 30835257, 35448980
Neoplasms	Inhibit	21943101, 23633104, 25026375, 27141064, 27174587, 31994851, 33915956, 39976897
Neoplasms Cystic Mucinous and Serous	Associate	15077125, 16721043, 18779727, 19010816, 19430562, 19955937, 22930283, 27128903, 28488545, 28873354, 28992761, 29027536, 29620581, 29770477, 30565721 View all (4 more)
Neoplasms Germ Cell and Embryonal	Associate	32918774
Neoplasms Multiple Primary	Associate	19686742
Neoplasms Neuroepithelial	Associate	23442159, 23941441, 24353007, 24767714, 25040262, 26115961, 26810070, 26920151, 27350555, 27416954, 27791984, 29768357, 31346129, 32811569, 32859279, 38269481, 38604736 View all (2 more)
Neoplasms Squamous Cell	Associate	25115387, 33712056
Neoplasms Unknown Primary	Associate	24866436, 26562476, 29973234
Neoplastic Syndromes Hereditary	Associate	23773459
Nephroma Mesoblastic	Associate	29915264, 33850302
Nerve Degeneration	Associate	32227455
Nervous System Diseases	Associate	36083130
Netherton Syndrome	Associate	19206169
Neuroblastoma	Associate	20564403, 20689758, 22142829, 33915956, 34331515, 37664946
Neurocutaneous Syndromes	Associate	25490715
Neurodegenerative Diseases	Associate	29100009, 36112425, 37115038
Neuroendocrine Tumors	Associate	25337237, 31557757, 37240418
Neurofibrosarcoma	Associate	18413802
Neurologic Manifestations	Associate	26187589
Neutropenia	Associate	24508103, 27283860, 28253394, 37358854
Neutropenia Nonimmune Chronic Idiopathic Adult	Associate	31841566
Nevus	Associate	14708620, 15009715, 15330192, 15361259, 15373778, 15824163, 16079850, 16354196, 16888631, 18408659, 19212341, 19752400, 20478260, 22549727, 22614973 View all (21 more)
Nevus	Stimulate	21514450
Nevus Blue	Associate	27934878, 35319526
Nevus Epithelioid and Spindle Cell	Associate	16799476, 19438459, 22367297, 25602801, 32004563, 33522711, 37856952
Nevus Pigmented	Associate	14708620, 15009715, 15373778, 16799476, 17301836, 17824790, 18408659, 19752400, 19919630, 20157537, 21326296, 22549727, 22614973, 23392294, 24424406 View all (14 more)
Non alcoholic Fatty Liver Disease	Associate	36696026
Non alcoholic Fatty Liver Disease	Stimulate	36696026
Noncommunicable Diseases	Associate	26786320
Noonan Syndrome	Associate	18854871, 19206169, 22465605, 23321623, 29084544, 38254922
Obesity	Associate	23539450, 29752338
Oculocerebrorenal Syndrome	Associate	15904951, 28378457
Oculomotor Nerve Diseases	Associate	28686121
Odontodysplasia	Associate	33144428
Odontogenic Cyst Calcifying	Associate	37194091
Odontogenic Cysts	Associate	33144428
Odontogenic Tumors	Associate	35468886
Odontoma	Associate	32643344, 33144428, 33176823, 35468886
Oligodendroglioma	Associate	22568401, 31630459, 34355449
Oncogene Addiction	Stimulate	35046109
Oncogene Addiction	Associate	35580987
Optic Nerve Glioma	Associate	20068183, 22892521, 29392423
Oral Submucous Fibrosis	Associate	35961969
Ototoxicity	Associate	34436699
Ovarian Diseases	Associate	18458053, 19349352, 19955937, 22039425, 29489407, 39754905
Ovarian Neoplasms	Associate	15904951, 18060073, 19240718, 19430562, 19955937, 21216929, 22930283, 23774303, 24139521, 24307542, 24549645, 25188864, 25523272, 26197800, 26484411 View all (32 more)
Overweight	Associate	26733165
Pancreatic Cyst	Associate	26253305, 32792597
Pancreatic Intraductal Neoplasms	Associate	17097223, 18343945, 18376308, 19440799, 32792597, 40317966
Pancreatic Neoplasms	Associate	22226782, 24293293, 26314551, 26637773, 26996308, 28884748, 31070037, 31519698, 31769353, 32843432, 34476331, 34614142, 35949061, 36999792, 37364232, 37400141, 37923686, 38246222 View all (3 more)
Pancreaticobiliary Maljunction	Associate	29622700
Pancreatitis	Associate	26892442
Panniculitis	Associate	30939167
Papillary Thyroid Microcarcinoma	Associate	21882177, 22799316, 22918165, 23192956, 24228637, 25337709, 25854387, 26181555, 26271724, 27936049, 28636673, 28680105, 30285776, 30312216, 30534813 View all (10 more)
Papilloma	Associate	28488545, 32362631
Papilloma Inverted	Associate	33048186
Papillomavirus Infections	Associate	25724524
Paraneoplastic Syndromes Ocular	Associate	22614973, 34075771
Paraproteinemias	Associate	26090869
Paresthesia	Associate	40033809
Parkinson Disease	Associate	24139521, 25319388, 30550608, 33552685, 34643739
Parkinson Disease	Stimulate	34643739
Pelvic Inflammatory Disease	Associate	27105424
Pericardial Effusion	Associate	36941018
Peritoneal Diseases	Associate	37126990
Peritoneal Neoplasms	Associate	26925640
Peritonitis	Associate	20140953, 21285991, 21456008, 24307542, 24737664, 25886136, 27956538, 29037218, 31571052, 31774543, 32166754, 35696748
Persistent Infection	Associate	31919458
Personality Disorders	Associate	21358618, 26875008, 26943032, 31391125, 32415114, 37809108, 39342349
Pheochromocytoma	Associate	28162975, 40290304
Pigmentation Disorders	Associate	17159915, 18985043, 19383316, 35319526
Pituitary ACTH Hypersecretion	Associate	30093687
Pituitary Hormone Deficiency Combined 2	Associate	28425764
Plasmablastic Lymphoma	Associate	33297669
Plasmacytoma	Associate	39273371
Platelet Disorder Familial with Associated Myeloid Malignancy	Associate	23971860
Pleural Effusion	Associate	31534501
Pleural Effusion Malignant	Associate	27923714
Pneumatosis Cystoides Intestinalis	Associate	33653337
Pneumocephalus	Associate	29895903
Pneumonia	Associate	28253394
Polycystic Kidney Diseases	Associate	21697238
Polycythemia Vera	Associate	30305475
Polypoidal Choroidal Vasculopathy	Associate	25551625
Polyps	Associate	15247181, 15793287, 16937524, 18782444, 19241144, 19855373, 21263251, 21347319, 21423154, 21641392, 23539450, 24728704, 24849572, 24925057, 25216220 View all (16 more)
Postoperative Complications	Associate	40033809
Precancerous Conditions	Associate	23887306, 27145369
Precursor Cell Lymphoblastic Leukemia Lymphoma	Associate	17483702, 23403319, 26345285, 32143579, 33578538
Precursor T Cell Lymphoblastic Leukemia Lymphoma	Associate	22237106
Primary Myelofibrosis	Associate	29565699
Primary Progressive Nonfluent Aphasia	Associate	23326492
Prodromal Symptoms	Associate	25057166, 26258321, 28453697, 31663466, 34246984, 39609824
Progesterone Resistance	Associate	30691046
Prostatic Intraepithelial Neoplasia	Associate	32740981
Prostatic Neoplasms	Associate	19725049, 20526349, 22981675, 24283590, 25189356, 25203299, 25735316, 25809148, 32158963, 32639612, 34211036, 35220606, 37084789, 37477913
Prostatic Neoplasms Castration Resistant	Associate	25189356, 30620391
Prostatitis	Associate	10934204, 34211036
Prosthesis Failure	Associate	22382362
Protein Losing Enteropathies	Associate	19010912
Pruritus	Associate	37867623
Pseudohypoparathyroidism Type 2	Associate	27930579
Pulmonary Valve Stenosis	Associate	21495173
Pyridoxamine 5 Prime Phosphate Oxidase Deficiency	Associate	29096990
Radiation Injuries	Associate	31805975
Rectal Neoplasms	Associate	19358278, 19913317, 21910869, 22481281, 23617638, 25636897, 25973534, 26134512, 26553611, 28654634, 29037218, 29362371, 31998419, 34706519, 34925539, 36142267, 39443085 View all (2 more)
Recurrence	Associate	22481281
Recurrent Laryngeal Nerve Injuries	Associate	36651705, 40033809
Renal Insufficiency	Associate	30936351
Reproductive Tract Infections	Associate	24842760
Respiratory Distress Syndrome	Associate	27283860
Retinal Dysplasia	Associate	22510757, 22684223, 24603588
Rhabdoid Tumor	Associate	27350555
Rhabdomyolysis	Associate	32093631
Rhabdomyosarcoma Embryonal	Associate	34755412
Rufous oculocutaneous albinism	Associate	25376477, 29900672
Salivary Duct Calculi	Associate	27103403, 30323086, 30946933, 31609094
Salivary Gland Neoplasms	Associate	32067683, 33135196
Sarcoidosis	Stimulate	33312171
Sarcoma	Associate	23552385, 28692601, 28877062, 29570692, 30315274, 30459475, 32918774, 33850302, 34120511, 35546636, 35775707
Sarcoma Ewing	Associate	3043188
Sarcoma Myeloid	Associate	32043788
Sarcoma Synovial	Associate	29570692, 32238877, 37417899
Schizotypal Personality Disorder	Associate	21136228
Sclerosis	Associate	34246179
Sebaceous gland hyperplasia familial presenile	Associate	17273161
Seizures	Associate	23941441, 27984807, 31217210, 35130969, 35524774, 38269481
Seroma	Associate	30975894
Short Stature Idiopathic X Linked	Associate	37212518
Shoulder Injuries	Associate	33438848
Sick Sinus Syndrome	Associate	17824790
Sigmoid Neoplasms	Associate	20979647
Sinonasal undifferentiated carcinoma	Associate	23633104
Sinusitis	Associate	36923612
Skin Diseases	Associate	23987572, 25330907, 28455460, 34946284, 36083130, 37534686
Skin Neoplasms	Associate	24943872
Sleep Disorders Circadian Rhythm	Associate	22039425, 34877621
Small Cell Lung Carcinoma	Associate	16810323, 26581482
Smoke Inhalation Injury	Associate	19358278
Soft Tissue Neoplasms	Associate	29915264
Solitary Pulmonary Nodule	Associate	30485130
Spasms Infantile	Associate	36448195
Speech Disorders	Associate	26187589
Spinal Cord Diseases	Associate	24353007
Spinal Muscular Atrophies of Childhood	Associate	35484883
Spinocerebellar Degenerations	Associate	23469219, 29472252, 29518181, 36221415
Squamous Cell Carcinoma of Head and Neck	Associate	19178815, 20813562, 25234657, 25980437, 29772524, 32381551, 36522371, 36916400
Stomach Neoplasms	Associate	23511561, 24774510, 25794798, 26538087, 26811494, 27437872, 32269290, 34884530
Struma Ovarii	Associate	37072862
Substance Related Disorders	Inhibit	34930786
Sunstroke	Associate	31811783
Tachycardia Atrioventricular Nodal Reentry	Associate	23741067, 32284020
Tarlov Cysts	Associate	34769348
Teratocarcinoma	Associate	36906579
Tertiary Lymphoid Structures	Associate	17972530, 23192956, 23987572, 24139215, 24863948, 28787433, 30694737
Testicular Germ Cell Tumor	Associate	16354586, 27153176
Testicular Neoplasms	Associate	26197800
Thrombasthenia	Associate	32604167
Thrombocytopenia	Associate	28253394
Thymoma	Associate	32463597
Thymus Neoplasms	Associate	34275983
Thyroid cancer follicular	Associate	17717450, 23766237, 24617711
Thyroid cancer medullary	Associate	18383861
Thyroid Cancer Papillary	Associate	15181454, 15195111, 15515191, 15968271, 15980887, 16365291, 16555619, 16896265, 16983703, 17060774, 17227125, 17355635, 17387744, 17429154, 17464312 View all (391 more)
Thyroid Cancer Papillary	Inhibit	35748101
Thyroid Cancer Papillary	Stimulate	38044137
Thyroid Carcinoma Anaplastic	Associate	15195111, 15980887, 17453004, 19487299, 23746767, 23775351, 24673746, 25576899, 25584719, 25588542, 26176686, 26680454, 27058903, 27785980, 28489587 View all (30 more)
Thyroid Diseases	Associate	34851044, 38203733, 38241570
Thyroid Neoplasms	Associate	15195111, 15980887, 17717450, 17972530, 18383861, 18458053, 19487299, 19878585, 20237991, 20332228, 21048359, 21167555, 21185263, 21412762, 21937738 View all (159 more)
Thyroid Neoplasms	Inhibit	34449926
Thyroid Nodule	Associate	20703476, 21190444, 21751431, 22233760, 22563563, 23505540, 23717622, 24267957, 24591770, 25333496, 25337709, 25592597, 25648502, 25868389, 25937618 View all (43 more)
Thyroiditis	Associate	18458053, 20703476, 22682753, 22732473, 23752636, 24150898, 24619974, 25156883, 25780001, 25924719, 26597052, 26828826, 27555670, 27717198, 29469940 View all (12 more)
Thyroiditis Autoimmune	Associate	31994851
Tn Syndrome	Associate	31397092
Tourette Syndrome	Associate	29084544
Tracheal Neoplasms	Associate	37752023
Tremor	Associate	28686121
Triple Negative Breast Neoplasms	Associate	24423920, 33297339
Tubular Sweat Gland Adenomas	Associate	30398985, 31473937, 33443864, 33712056, 39377508
Turcot syndrome	Associate	23045248, 24166180, 24196786, 25139339, 25280751, 25305506, 25341111, 25624727, 25663779, 25929517, 27022117, 28416767, 28911067, 30643016, 31152084, 32620917, 33276219, 39207001 View all (3 more)
Ulcer	Associate	20975100, 34694198
Unilateral Breast Neoplasms	Stimulate	31848314
Upton Young syndrome	Associate	16079850, 16880792, 19919630, 24531394, 34643739
Urachal cancer	Associate	27283768
Urethral Neoplasms	Associate	21533174, 25097040
Urinary Bladder Neoplasms	Associate	20853079, 23897969, 28388658, 31077629
Uterine Cervical Dysplasia	Associate	40317966
UV Sensitive Syndrome	Associate	25724524
Uveal melanoma	Associate	12778069, 15145934, 15928660, 16452469, 18985043, 27928645, 30601876, 35341390
Vasculitis Leukocytoclastic Cutaneous	Associate	15935100, 23041829
Vipoma	Associate	34331515
Virus Diseases	Associate	29096990
Vitiligo	Associate	30939167
Vitiligo	Inhibit	31532537
Vomiting	Associate	34969785
Warburg Sjo Fledelius syndrome	Associate	39342349
Wilms Tumor	Associate	32238401, 35184066
Wolffian tumor	Associate	36589808
Xanthogranuloma Juvenile	Associate	37115038
Xeroderma Pigmentosum	Associate	24483290

BRAF (B-Raf proto-oncogene, serine/threonine kinase)