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

Gene Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	1950
Gene name Gene Name - the full gene name approved by the HGNC.	Epidermal growth factor
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	EGF
Synonyms (NCBI Gene) Gene synonyms aliases	HOMG4, URG
Chromosome Chromosome number	4
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	4q25
Summary Summary of gene provided in NCBI Entrez Gene.	This gene encodes a member of the epidermal growth factor superfamily. The encoded preproprotein is proteolytically processed to generate the 53-amino acid epidermal growth factor peptide. This protein acts a potent mitogenic factor that plays an importan

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SNP ID	Visualize variation	Clinical significance	Consequence
rs4444903	A>C,G	Benign, drug-response	5 prime UTR variant, upstream transcript variant, genic upstream transcript variant, non coding transcript variant
rs121434567	C>T	Pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant

Show/Hide all(146)

miRTarBase ID	miRNA	Experiments	Reference
MIRT460845	hsa-miR-6808-5p	PAR-CLIP	21572407
MIRT460844	hsa-miR-6893-5p	PAR-CLIP	21572407
MIRT460843	hsa-miR-940	PAR-CLIP	21572407
MIRT460842	hsa-miR-4459	PAR-CLIP	21572407
MIRT460841	hsa-miR-4433a-3p	PAR-CLIP	21572407
MIRT460840	hsa-miR-665	PAR-CLIP	21572407
MIRT460839	hsa-miR-6840-3p	PAR-CLIP	21572407
MIRT460837	hsa-miR-1225-3p	PAR-CLIP	21572407
MIRT460836	hsa-miR-1233-3p	PAR-CLIP	21572407
MIRT460835	hsa-miR-1827	PAR-CLIP	21572407
MIRT460834	hsa-miR-3975	PAR-CLIP	21572407
MIRT460833	hsa-miR-2467-5p	PAR-CLIP	21572407
MIRT460832	hsa-miR-485-5p	PAR-CLIP	21572407
MIRT460831	hsa-miR-6884-5p	PAR-CLIP	21572407
MIRT460830	hsa-miR-3188	PAR-CLIP	21572407
MIRT460829	hsa-miR-4722-5p	PAR-CLIP	21572407
MIRT460828	hsa-miR-6894-5p	PAR-CLIP	21572407
MIRT460827	hsa-miR-6807-5p	PAR-CLIP	21572407
MIRT460826	hsa-miR-6765-5p	PAR-CLIP	21572407
MIRT460825	hsa-miR-1273e	PAR-CLIP	21572407
MIRT460824	hsa-miR-1304-5p	PAR-CLIP	21572407
MIRT460845	hsa-miR-6808-5p	PAR-CLIP	23592263
MIRT460844	hsa-miR-6893-5p	PAR-CLIP	23592263
MIRT460843	hsa-miR-940	PAR-CLIP	23592263
MIRT460842	hsa-miR-4459	PAR-CLIP	23592263
MIRT460841	hsa-miR-4433a-3p	PAR-CLIP	23592263
MIRT460840	hsa-miR-665	PAR-CLIP	23592263
MIRT460839	hsa-miR-6840-3p	PAR-CLIP	23592263
MIRT460838	hsa-miR-4649-3p	PAR-CLIP	23592263
MIRT460837	hsa-miR-1225-3p	PAR-CLIP	23592263
MIRT460836	hsa-miR-1233-3p	PAR-CLIP	23592263
MIRT460835	hsa-miR-1827	PAR-CLIP	23592263
MIRT460834	hsa-miR-3975	PAR-CLIP	23592263
MIRT460833	hsa-miR-2467-5p	PAR-CLIP	23592263
MIRT460832	hsa-miR-485-5p	PAR-CLIP	23592263
MIRT460831	hsa-miR-6884-5p	PAR-CLIP	23592263
MIRT460830	hsa-miR-3188	PAR-CLIP	23592263
MIRT460829	hsa-miR-4722-5p	PAR-CLIP	23592263
MIRT460828	hsa-miR-6894-5p	PAR-CLIP	23592263
MIRT460827	hsa-miR-6807-5p	PAR-CLIP	23592263
MIRT460826	hsa-miR-6765-5p	PAR-CLIP	23592263
MIRT460825	hsa-miR-1273e	PAR-CLIP	23592263
MIRT460824	hsa-miR-1304-5p	PAR-CLIP	23592263
MIRT734480	hsa-miR-199a-3p	Flow cytometry, Immunofluorescence, Microarray, Western blotting	32867783
MIRT734480	hsa-miR-199a-3p	Flow cytometry, Immunofluorescence, Microarray, Western blotting	32867783
MIRT734480	hsa-miR-199a-3p	Flow cytometry, Immunofluorescence, Microarray, Western blotting	32867783
MIRT460845	hsa-miR-6808-5p	PAR-CLIP	21572407
MIRT460844	hsa-miR-6893-5p	PAR-CLIP	21572407
MIRT460843	hsa-miR-940	PAR-CLIP	21572407
MIRT460842	hsa-miR-4459	PAR-CLIP	21572407
MIRT460841	hsa-miR-4433a-3p	PAR-CLIP	21572407
MIRT460840	hsa-miR-665	PAR-CLIP	21572407
MIRT460839	hsa-miR-6840-3p	PAR-CLIP	21572407
MIRT460837	hsa-miR-1225-3p	PAR-CLIP	21572407
MIRT460836	hsa-miR-1233-3p	PAR-CLIP	21572407
MIRT460835	hsa-miR-1827	PAR-CLIP	21572407
MIRT460834	hsa-miR-3975	PAR-CLIP	21572407
MIRT460833	hsa-miR-2467-5p	PAR-CLIP	21572407
MIRT460832	hsa-miR-485-5p	PAR-CLIP	21572407
MIRT460831	hsa-miR-6884-5p	PAR-CLIP	21572407
MIRT460830	hsa-miR-3188	PAR-CLIP	21572407
MIRT460829	hsa-miR-4722-5p	PAR-CLIP	21572407
MIRT460828	hsa-miR-6894-5p	PAR-CLIP	21572407
MIRT460827	hsa-miR-6807-5p	PAR-CLIP	21572407
MIRT460826	hsa-miR-6765-5p	PAR-CLIP	21572407
MIRT460825	hsa-miR-1273e	PAR-CLIP	21572407
MIRT460824	hsa-miR-1304-5p	PAR-CLIP	21572407
MIRT460845	hsa-miR-6808-5p	PAR-CLIP	23592263
MIRT460844	hsa-miR-6893-5p	PAR-CLIP	23592263
MIRT460843	hsa-miR-940	PAR-CLIP	23592263
MIRT460842	hsa-miR-4459	PAR-CLIP	23592263
MIRT460841	hsa-miR-4433a-3p	PAR-CLIP	23592263
MIRT460840	hsa-miR-665	PAR-CLIP	23592263
MIRT460839	hsa-miR-6840-3p	PAR-CLIP	23592263
MIRT460838	hsa-miR-4649-3p	PAR-CLIP	23592263
MIRT460837	hsa-miR-1225-3p	PAR-CLIP	23592263
MIRT460836	hsa-miR-1233-3p	PAR-CLIP	23592263
MIRT460835	hsa-miR-1827	PAR-CLIP	23592263
MIRT460834	hsa-miR-3975	PAR-CLIP	23592263
MIRT460833	hsa-miR-2467-5p	PAR-CLIP	23592263
MIRT460832	hsa-miR-485-5p	PAR-CLIP	23592263
MIRT460831	hsa-miR-6884-5p	PAR-CLIP	23592263
MIRT460830	hsa-miR-3188	PAR-CLIP	23592263
MIRT460829	hsa-miR-4722-5p	PAR-CLIP	23592263
MIRT460828	hsa-miR-6894-5p	PAR-CLIP	23592263
MIRT460827	hsa-miR-6807-5p	PAR-CLIP	23592263
MIRT460826	hsa-miR-6765-5p	PAR-CLIP	23592263
MIRT460825	hsa-miR-1273e	PAR-CLIP	23592263
MIRT460824	hsa-miR-1304-5p	PAR-CLIP	23592263
MIRT954695	hsa-miR-1233	CLIP-seq
MIRT954696	hsa-miR-1304	CLIP-seq
MIRT954697	hsa-miR-3200-3p	CLIP-seq
MIRT954698	hsa-miR-3940-5p	CLIP-seq
MIRT954699	hsa-miR-4263	CLIP-seq
MIRT954700	hsa-miR-4433	CLIP-seq
MIRT954701	hsa-miR-4507	CLIP-seq
MIRT954702	hsa-miR-576-5p	CLIP-seq
MIRT954703	hsa-miR-629	CLIP-seq
MIRT1982744	hsa-miR-1285	CLIP-seq
MIRT1982745	hsa-miR-1298	CLIP-seq
MIRT1982746	hsa-miR-2964a-5p	CLIP-seq
MIRT1982747	hsa-miR-3124-3p	CLIP-seq
MIRT1982748	hsa-miR-3187-5p	CLIP-seq
MIRT1982749	hsa-miR-4502	CLIP-seq
MIRT1982750	hsa-miR-4659a-3p	CLIP-seq
MIRT1982751	hsa-miR-4659b-3p	CLIP-seq
MIRT1982752	hsa-miR-4762-3p	CLIP-seq
MIRT1982753	hsa-miR-4778-3p	CLIP-seq
MIRT1982754	hsa-miR-4778-5p	CLIP-seq
MIRT1982755	hsa-miR-526b	CLIP-seq
MIRT1982756	hsa-miR-612	CLIP-seq
MIRT1982757	hsa-miR-654-3p	CLIP-seq
MIRT954695	hsa-miR-1233	CLIP-seq
MIRT1982744	hsa-miR-1285	CLIP-seq
MIRT954696	hsa-miR-1304	CLIP-seq
MIRT2217625	hsa-miR-1914	CLIP-seq
MIRT1982748	hsa-miR-3187-5p	CLIP-seq
MIRT954697	hsa-miR-3200-3p	CLIP-seq
MIRT2217626	hsa-miR-3929	CLIP-seq
MIRT2217627	hsa-miR-4269	CLIP-seq
MIRT2217628	hsa-miR-4289	CLIP-seq
MIRT2217629	hsa-miR-4419b	CLIP-seq
MIRT954700	hsa-miR-4433	CLIP-seq
MIRT2217630	hsa-miR-4478	CLIP-seq
MIRT2217631	hsa-miR-4514	CLIP-seq
MIRT2217632	hsa-miR-4692	CLIP-seq
MIRT2217633	hsa-miR-4742-5p	CLIP-seq
MIRT2217634	hsa-miR-4793-3p	CLIP-seq
MIRT2217635	hsa-miR-550a	CLIP-seq
MIRT1982756	hsa-miR-612	CLIP-seq
MIRT2217636	hsa-miR-661	CLIP-seq
MIRT2436921	hsa-miR-1256	CLIP-seq
MIRT2436922	hsa-miR-3120-5p	CLIP-seq
MIRT2436923	hsa-miR-3925-3p	CLIP-seq
MIRT2436924	hsa-miR-4645-5p	CLIP-seq
MIRT2436925	hsa-miR-4673	CLIP-seq
MIRT2436926	hsa-miR-766	CLIP-seq
MIRT2436921	hsa-miR-1256	CLIP-seq
MIRT2436922	hsa-miR-3120-5p	CLIP-seq
MIRT2436923	hsa-miR-3925-3p	CLIP-seq
MIRT2436924	hsa-miR-4645-5p	CLIP-seq
MIRT2436925	hsa-miR-4673	CLIP-seq
MIRT2436926	hsa-miR-766	CLIP-seq
MIRT954695	hsa-miR-1233	CLIP-seq
MIRT954696	hsa-miR-1304	CLIP-seq
MIRT954700	hsa-miR-4433	CLIP-seq

Transcription factors

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Transcription factor	Regulation	Reference
SP1	Unknown	2833511

Show/Hide all(82)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001525	Process	Angiogenesis	IDA	15611079
GO:0001938	Process	Positive regulation of endothelial cell proliferation	IDA	31915155
GO:0002092	Process	Positive regulation of receptor internalization	IDA	22732145
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	IDA	20353436
GO:0005154	Function	Epidermal growth factor receptor binding	IEA
GO:0005154	Function	Epidermal growth factor receptor binding	TAS	9712850, 15611079
GO:0005509	Function	Calcium ion binding	IEA
GO:0005515	Function	Protein binding	IPI	2790960, 9135143, 12297050, 12620237, 17697999, 21439278, 21822280, 23597562, 25241761, 26280537, 28988771, 30082873, 30083275, 32296183
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	HDA	16502470
GO:0005615	Component	Extracellular space	IDA	11336639
GO:0005615	Component	Extracellular space	IEA
GO:0005765	Component	Lysosomal membrane	HDA	17897319
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS	3491360
GO:0007173	Process	Epidermal growth factor receptor signaling pathway	IBA
GO:0007173	Process	Epidermal growth factor receptor signaling pathway	IDA	8663461, 12435727, 24854121
GO:0007173	Process	Epidermal growth factor receptor signaling pathway	IDA	15611079, 18567582, 20353436, 31915155
GO:0007173	Process	Epidermal growth factor receptor signaling pathway	IEA
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	22732145
GO:0008083	Function	Growth factor activity	IBA
GO:0008083	Function	Growth factor activity	IDA	7736574, 15611079
GO:0008083	Function	Growth factor activity	IEA
GO:0008283	Process	Cell population proliferation	IEA
GO:0008284	Process	Positive regulation of cell population proliferation	IBA
GO:0008284	Process	Positive regulation of cell population proliferation	IDA	7736574
GO:0008284	Process	Positive regulation of cell population proliferation	IDA	15611079, 20388803
GO:0008284	Process	Positive regulation of cell population proliferation	IEA
GO:0008284	Process	Positive regulation of cell population proliferation	IEA
GO:0008284	Process	Positive regulation of cell population proliferation	IMP	18722344
GO:0010595	Process	Positive regulation of endothelial cell migration	IDA	31915155
GO:0010604	Process	Positive regulation of macromolecule metabolic process	IEA
GO:0010628	Process	Positive regulation of gene expression	IDA	25678558
GO:0010800	Process	Positive regulation of peptidyl-threonine phosphorylation	IDA	16314496
GO:0016020	Component	Membrane	IEA
GO:0021930	Process	Cerebellar granule cell precursor proliferation	IEA
GO:0021940	Process	Positive regulation of cerebellar granule cell precursor proliferation	IEA
GO:0030297	Function	Transmembrane receptor protein tyrosine kinase activator activity	IDA	11336639, 15611079
GO:0030297	Function	Transmembrane receptor protein tyrosine kinase activator activity	IEA
GO:0030297	Function	Transmembrane receptor protein tyrosine kinase activator activity	TAS	9712850
GO:0030335	Process	Positive regulation of cell migration	IDA	25678558
GO:0030669	Component	Clathrin-coated endocytic vesicle membrane	TAS
GO:0031093	Component	Platelet alpha granule lumen	TAS
GO:0038134	Process	ERBB2-EGFR signaling pathway	IDA	11336639
GO:0038134	Process	ERBB2-EGFR signaling pathway	IEA
GO:0042327	Process	Positive regulation of phosphorylation	IDA	15611079
GO:0043388	Process	Positive regulation of DNA binding	ISS
GO:0043410	Process	Positive regulation of MAPK cascade	IBA
GO:0043410	Process	Positive regulation of MAPK cascade	IDA	15611079, 18567582, 31915155
GO:0043410	Process	Positive regulation of MAPK cascade	IEA
GO:0043410	Process	Positive regulation of MAPK cascade	IEA
GO:0043410	Process	Positive regulation of MAPK cascade	IMP	18722344
GO:0045840	Process	Positive regulation of mitotic nuclear division	IDA	15611079
GO:0045893	Process	Positive regulation of DNA-templated transcription	IDA	16314496
GO:0046425	Process	Regulation of receptor signaling pathway via JAK-STAT	IEA
GO:0046425	Process	Regulation of receptor signaling pathway via JAK-STAT	ISS
GO:0048018	Function	Receptor ligand activity	IDA	11336639
GO:0048018	Function	Receptor ligand activity	IEA
GO:0048731	Process	System development	IEA
GO:0048754	Process	Branching morphogenesis of an epithelial tube	IEA
GO:0050673	Process	Epithelial cell proliferation	IEA
GO:0050679	Process	Positive regulation of epithelial cell proliferation	IEA
GO:0051048	Process	Negative regulation of secretion	IDA	10559227
GO:0051049	Process	Regulation of transport	IEA
GO:0051897	Process	Positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IDA	31915155
GO:0051897	Process	Positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IGI	31915155
GO:0060749	Process	Mammary gland alveolus development	IEA
GO:0070062	Component	Extracellular exosome	HDA	19056867, 23533145
GO:0070062	Component	Extracellular exosome	IDA	21082674
GO:0070371	Process	ERK1 and ERK2 cascade	IDA	16314496
GO:0080090	Process	Regulation of primary metabolic process	IEA
GO:0090263	Process	Positive regulation of canonical Wnt signaling pathway	IDA	20302655
GO:0090279	Process	Regulation of calcium ion import	IDA	19996314
GO:0090370	Process	Negative regulation of cholesterol efflux	IEA
GO:1900127	Process	Positive regulation of hyaluronan biosynthetic process	IDA	17324121
GO:1902966	Process	Positive regulation of protein localization to early endosome	IDA	22298428
GO:1905278	Process	Positive regulation of epithelial tube formation	IDA	31915155
GO:2000008	Process	Regulation of protein localization to cell surface	IDA	19996314
GO:2000060	Process	Positive regulation of ubiquitin-dependent protein catabolic process	IEA

MIM	HGNC	e!Ensembl
131530	3229	ENSG00000138798

Protein

UniProt ID

P01133

Protein name

Pro-epidermal growth factor (EGF) [Cleaved into: Epidermal growth factor (Urogastrone)]

Protein function

EGF stimulates the growth of various epidermal and epithelial tissues in vivo and in vitro and of some fibroblasts in cell culture. Magnesiotropic hormone that stimulates magnesium reabsorption in the renal distal convoluted tubule via engagemen

PDB

1IVO , 1JL9 , 1NQL , 1P9J , 2KV4 , 3NJP , 7OM4 , 7SYD , 7SYE , 7SZ0 , 7SZ1 , 8HGO , 8HGS

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF07645	EGF_CA	356 → 395	Calcium-binding EGF domain	Domain
PF00058	Ldl_recept_b	524 → 564	Low-density lipoprotein receptor repeat class B	Repeat
PF00058	Ldl_recept_b	567 → 607	Low-density lipoprotein receptor repeat class B	Repeat
PF00058	Ldl_recept_b	610 → 651	Low-density lipoprotein receptor repeat class B	Repeat
PF00058	Ldl_recept_b	654 → 694	Low-density lipoprotein receptor repeat class B	Repeat
PF14670	FXa_inhibition	745 → 780		Domain
PF07645	EGF_CA	870 → 910	Calcium-binding EGF domain	Domain
PF07645	EGF_CA	912 → 948	Calcium-binding EGF domain	Domain
PF00008	EGF	976 → 1011	EGF-like domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed in kidney, salivary gland, cerebrum and prostate. {ECO:0000269|PubMed:17671655}.

Sequence

MLLTLIILLPVVSKFSFVSLSAPQHWSCPEGTLAGNGNSTCVGPAPFLIFSHGNSIFRID
TEGTNYEQLVVDAGVSVIMDFHYNEKRIYWVDLERQLLQRVFLNGSRQERVCNIEKNVSG
MAINWINEEVIWSNQQEGIITVTDMKGNNSHILLSALKYPANVAVDPVERFIFWSSEVAG
SLYRADLDGVGVKALLETSEKITAVSLDVLDKRLFWIQYNREGSNSLICSCDYDGGSVHI
SKHPTQHNLFAMSLFGDRIFYSTWKMKTIWIANKHTGKDMVRINLHSSFVPLGELKVVHP
LAQPKAEDDTWEPEQKLCKLRKGNCSSTVCGQDLQSHLCMCAEGYALSRDRKYCEDVNEC
AFWNHGCTLGCKNTPGSYYCTCPVGFVLLPDGKRCHQLVSCPRNVSECSHDCVLTSEGPL
CFCPEGSVLERDGKTCSGCSSPDNGGCSQLCVPLSPVSWECDCFPGYDLQLDEKSCAASG
PQPFLLFANSQDIRHMHFDGTDYGTLLSQQMGMVYALDHDPVENKIYFAHTALKWIERAN
MDGSQRERLIEEGVDVPEGLAVDWIGRRFYWTDRGKSLIGRSDLNGKRSKIITKENISQP
RGIAVHPMAKRLFWTDTGINPRIESSSLQGLGRLVIASSDLIWPSGITIDFLTDKLYWCD
AKQSVIEMANLDGSKRRRLTQNDVGHPFAVAVFEDYVWFSDWAMPSVMRVNKRTGKDRVR
LQGSMLKPSSLVVVHPLAKPGADPCLYQNGGCEHICKKRLGTAWCSCREGFMKASDGKTC
LALDGHQLLAGGEVDLKNQVTPLDILSKTRVSEDNITESQHMLVAEIMVSDQDDCAPVGC
SMYARCISEGEDATCQCLKGFAGDGKLCSDIDECEMGVPVCPPASSKCINTEGGYVCRCS
EGYQGDGIHCLDIDECQLGEHSCGENASCTNTEGGYTCMCAGRLSEPGLICPDSTPPPHL
REDDHHYSVRNSDSECPLSHDGYCLHDGVCMYIEALDKYACNCVVGYIGERCQYRDLKWW
ELRHAGHGQQQKVIVVAVCVVVLVMLLLLSLWGAHYYRTQKLLSKNPKNPYEESSRDVRS
RRPADTEDGMSSCPQPWFVVIKEHQDLKNGGQPVAGEDGQAADGSMQPTSWRQEPQLCGM
GTEQGCWIPVSSDKGSCPQVMERSFHMPSYGTQTLEGGVEKPHSLLSANPLWQQRALDPP
HQMELTQ

Sequence length

1207

Interactions

View interactions

	KEGG		Reactome
	EGFR tyrosine kinase inhibitor resistance MAPK signaling pathway ErbB signaling pathway Ras signaling pathway Rap1 signaling pathway Calcium signaling pathway HIF-1 signaling pathway FoxO signaling pathway Phospholipase D signaling pathway PI3K-Akt signaling pathway Focal adhesion Gap junction JAK-STAT signaling pathway Regulation of actin cytoskeleton Hepatitis C Human papillomavirus infection Pathways in cancer Chemical carcinogenesis - receptor activation Chemical carcinogenesis - reactive oxygen species Colorectal cancer Pancreatic cancer Endometrial cancer Glioma Prostate cancer Melanoma Bladder cancer Non-small cell lung cancer Breast cancer Gastric cancer Choline metabolism in cancer PD-L1 expression and PD-1 checkpoint pathway in cancer		Platelet degranulation Signaling by ERBB2 Constitutive Signaling by Ligand-Responsive EGFR Cancer Variants Signaling by ERBB4 SHC1 events in ERBB2 signaling PIP3 activates AKT signaling Signaling by EGFR GRB2 events in EGFR signaling GAB1 signalosome SHC1 events in EGFR signaling EGFR downregulation PI3K events in ERBB2 signaling EGFR interacts with phospholipase C-gamma Constitutive Signaling by Aberrant PI3K in Cancer Constitutive Signaling by EGFRvIII Inhibition of Signaling by Overexpressed EGFR RAF/MAP kinase cascade ERBB2 Regulates Cell Motility PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling ERBB2 Activates PTK6 Signaling Cargo recognition for clathrin-mediated endocytosis Clathrin-mediated endocytosis Downregulation of ERBB2 signaling Extra-nuclear estrogen signaling NOTCH3 Activation and Transmission of Signal to the Nucleus Estrogen-dependent nuclear events downstream of ESR-membrane signaling Signaling by ERBB2 KD Mutants Signaling by ERBB2 ECD mutants Signaling by ERBB2 TMD/JMD mutants

Show/Hide Causal Diseases (1)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Renal Hypomagnesemia	Renal hypomagnesemia 4	rs121434567	N/A

Show/Hide Unknown Diseases (5)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Cholangiocarcinoma	cholangiocarcinoma	N/A	N/A	ClinVar
Hereditary Renal Carcinoma	Hereditary renal cell carcinoma	N/A	N/A	ClinVar
Hypomagnesemia	Renal Hypomagnesemia, Recessive	N/A	N/A	ClinVar
Hypomagnesemia With Normocalciuria And Normocalcemia	familial primary hypomagnesemia with normocalciuria and normocalcemia	N/A	N/A	GenCC
Prostate cancer	Prostate cancer	N/A	N/A	GWAS

Show/Hide Text Mining Associations (344)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Acute Kidney Injury	Associate	15798085, 33863396, 37789254
Adenocarcinoma	Associate	11741272, 18483390, 19520791, 26625757, 2897079, 32917321, 33974569, 36092955, 36928883, 8648906
Adenocarcinoma of Lung	Associate	23028479, 28732076, 30972766, 32720736
Adenocarcinoma of Lung	Stimulate	33916908
Adenocarcinoma Scirrhous	Associate	7577468
Adenoma	Associate	29149105, 35260162
Adenoma Pleomorphic	Associate	25230789
Adenomatous Polyposis Coli	Associate	7793821
Allergic Fungal Sinusitis	Associate	25624129, 26047816, 27393708
Alzheimer Disease	Stimulate	19395124
Ameloblastoma	Associate	25099616, 32879156
Aneurysm Ascending Aorta	Associate	7762551
Angiomyolipoma	Associate	16192644
Anterior Wall Myocardial Infarction	Associate	26930482
Anxiety Disorders	Associate	33849116
Apical Hypertrophic Cardiomyopathy	Associate	35674115
Arthritis Psoriatic	Associate	17204151
Arthritis Rheumatoid	Associate	11229455, 17204151, 31178673, 37445932
Asthma	Stimulate	25624129
Astrocytoma	Associate	11939722, 1902475, 19127042
Ataxia	Associate	23608378
Ataxia Telangiectasia	Inhibit	11080496
Atypical Squamous Cells of the Cervix	Associate	30043637
Autism Spectrum Disorder	Associate	36320054
Autistic Disorder	Associate	28070266
Axenfeld Rieger syndrome	Associate	8940274, 8940275
Barrett Esophagus	Associate	1452065, 18483390
Behcet Syndrome	Associate	23625463
Biliary Atresia	Associate	34392560
Biliary Tract Neoplasms	Associate	25217982
Bipolar Disorder	Associate	26462502
Blood Coagulation Disorders Inherited	Associate	34342048
Bone Resorption	Stimulate	11005785
Brain Injuries	Inhibit	23608378
Brain Injuries Traumatic	Inhibit	23608378
Brain Neoplasms	Associate	18292095, 19622585, 32883221
Breast Neoplasms	Associate	10364198, 10903426, 12138200, 15084247, 15607537, 15798095, 15951439, 1616857, 16253990, 16684880, 16847054, 17142811, 17311928, 17363586, 17537730 View all (75 more)
Breast Neoplasms	Stimulate	19400944, 26915319
Bursitis	Associate	36875119
CADASIL	Associate	16107360, 19043263, 21616505, 25098330, 27881154, 30032161, 37295172
calcifying aponeurotic fibroma	Associate	30310176
Calcinosis Cutis	Stimulate	18036246
Cap Myopathy	Inhibit	2478180
Carcinogenesis	Associate	1452065, 17316357, 17433039, 19403524, 20487573, 22782629, 23790025, 25117311, 25701553, 27835592, 29039605, 29884818, 32881389, 34358255, 7819044
Carcinogenesis	Stimulate	20080707, 21640721
Carcinoid Tumor	Associate	16424381
Carcinoma Adenoid Cystic	Stimulate	23496982
Carcinoma Adenoid Cystic	Associate	27301516
Carcinoma Ductal Breast	Associate	23083134
Carcinoma Hepatocellular	Associate	14716823, 15040022, 19411282, 20080086, 20856226, 21440548, 22701712, 23419149, 23464434, 23790025, 24268047, 24616922, 24703510, 24716919, 25504078 View all (15 more)
Carcinoma Neuroendocrine	Associate	16507913
Carcinoma Non Small Cell Lung	Associate	15802268, 18942115, 19174819, 19570984, 22003224, 22457050, 23237220, 23771370, 24705809, 25028095, 25257143, 26497899, 26572169, 26625757, 26689995 View all (15 more)
Carcinoma Non Small Cell Lung	Inhibit	29773775
Carcinoma Ovarian Epithelial	Associate	23889749, 25533808
Carcinoma Pancreatic Ductal	Associate	12377812, 18505086, 20430737, 24048788, 24567526, 31731384, 32696951, 34163029
Carcinoma Papillary	Associate	1699752
Carcinoma Renal Cell	Associate	20089566, 24914205, 25909813, 31348324, 31850854, 31939627, 31950034, 34358255, 35655917, 37563650, 8127013, 8886918
Carcinoma Squamous Cell	Associate	1503897, 1701695, 18507008, 19203995, 1936256, 20621058, 21769085, 22592160, 23383347, 2544220, 26464646, 36504325, 6271744, 7040412, 8638090
Carcinoma Squamous Cell	Inhibit	3490853
Carotid Stenosis	Associate	26254334
Cell Transformation Viral	Associate	39353908
Cerebral Small Vessel Diseases	Associate	35409031
Cholangiocarcinoma	Associate	24574749, 31754244, 33639651, 34798470
Cholesteatoma	Associate	15481560, 24311896, 33627146
Cholesteatoma Middle Ear	Associate	15481560
Chordoma	Associate	32533822, 34127734
Chorioamnionitis	Associate	2005113
Choriocarcinoma	Associate	14709841, 9119881
Chromosome 7 trisomy mosaic	Associate	19898616
Cicatrix	Associate	8245516
Cleft Lip	Associate	26398511
Cleft Palate	Associate	28906376
Coagulation Protein Disorders	Associate	34342048
Cognition Disorders	Associate	21520231
Cognitive Dysfunction	Associate	19395124, 37686198
Colitis Ulcerative	Associate	23825635
Colonic Neoplasms	Associate	1639855, 2072905, 25987127, 27273097, 8514777
Colorectal Neoplasms	Associate	10362109, 14966913, 17260007, 19799648, 21639915, 21646361, 21791631, 22117530, 22363134, 22547830, 22553926, 23511561, 23638973, 23825635, 24069372 View all (23 more)
Constriction Pathologic	Associate	36867212
Coronary Artery Disease	Associate	27835972, 34565095
Coronary Disease	Associate	35866783
Coronary Restenosis	Associate	26930482
COVID 19	Stimulate	32866033
COVID 19	Associate	33726831, 34045585, 34941025, 37789254
Cystic Fibrosis	Associate	18757521
Cystitis Interstitial	Associate	19193608, 19628257
Cysts	Associate	9208810
Death	Associate	17912028, 35927556
Dementia	Associate	21520231
Depressive Disorder Major	Associate	27755861
Dermatitis	Associate	27206134
Dermatofibrosarcoma	Associate	32956651
Diabetes Gestational	Stimulate	20144210
Diabetes Mellitus	Associate	21099256, 24708156, 36996194
Diabetes Mellitus Type 2	Associate	21099256, 37543256
Diabetic Foot	Associate	32812896
Diabetic Nephropathies	Associate	32778679, 35991124, 37988198, 38013385, 38027201, 40312440
Diabetic Nephropathies	Inhibit	39510044
Dissection Ascending Aorta	Associate	7762551
Disseminated Intravascular Coagulation	Associate	34474479
DNA Virus Infections	Associate	8128479
Donohue Syndrome	Associate	2808704
Drug Related Side Effects and Adverse Reactions	Associate	23383347, 29551087, 6332200, 7669570
Drug Related Side Effects and Adverse Reactions	Stimulate	24761873, 8432873
Drug Related Side Effects and Adverse Reactions	Inhibit	8198991
Dry Eye Syndromes	Associate	36499565
Dry Socket	Associate	32898447
Duodenal Ulcer	Associate	9176072
Dysplastic Nevus Syndrome	Associate	25701553
Ectopia Lentis	Associate	10229672
Endometrial Neoplasms	Associate	16826583, 19319135, 19604315, 20579378, 24077349, 30510261, 35169075, 38225862, 8314534, 8641991
Endometriosis	Associate	32762950
Enterocolitis Necrotizing	Inhibit	22675459, 27314851, 28315470
Epilepsy Familial Mesial Temporal Lobe	Associate	36259630
Erectile Dysfunction	Associate	30333254
Esophageal Neoplasms	Associate	10908564, 17912028, 19090015, 32103875, 36092955, 8128479
Esophageal Squamous Cell Carcinoma	Associate	20502940, 24945674, 28459198, 37248653
Esophagitis	Associate	35564692
Exanthema	Associate	33153894
Eye Diseases	Associate	21151603
Factor X Deficiency	Associate	12028042
Fibrocartilaginous embolism	Associate	27075568
Fibroma Desmoplastic	Associate	15365564
Fibrosis	Associate	22236006, 25504078, 26854475, 36185336
Fibrosis	Inhibit	38027143
Fractures Bone	Associate	23608378
Fused Kidney	Associate	10886563, 28898253
Gastritis Atrophic	Associate	33957136
Gastroesophageal Reflux	Associate	18483390, 19520791, 35564692, 36092955
general anxiety disorder	Stimulate	39521929
Genetic Diseases Inborn	Associate	8653794
Gestational Trophoblastic Disease	Associate	9119881
Glioblastoma	Associate	17473192, 19018263, 19602687, 20197289, 20392929, 20487573, 21309478, 22481252, 23206951, 24045955, 24771221, 27132626, 27888226, 29559295, 29953622 View all (7 more)
Glioblastoma	Stimulate	29117939
Glioma	Associate	10595738, 15279711, 16623952, 17473192, 17855624, 19634110, 20487573, 21309478, 21506118, 22114076, 22481252, 22782629, 22829952, 24362532, 27888226, 39780215, 7566395 View all (2 more)
Glioma of Brain Familial	Associate	20487573
Glomerulonephritis IGA	Associate	36978098
Glomerulonephritis IGA	Inhibit	8943482
Glycogen Storage Disease Type IV	Associate	34706519
Gout	Associate	27506295
Graft vs Host Disease	Associate	30425334, 35816039
Graft vs Host Disease	Inhibit	37279855
Granulosa Cell Tumor	Associate	23155381
Growth Disorders	Associate	21151603
Head and Neck Neoplasms	Stimulate	33916908
Hemophilia A	Associate	12871416
Hemophilia B	Associate	10381508, 12105230, 12871416, 15219198, 2014182, 2306516, 2762170, 2821070, 3262389
Hemorrhage	Associate	34474479
Hepatitis B	Associate	22236006, 23790025
Hepatitis C Chronic	Associate	26854475
Hepatoblastoma	Associate	27910913
Hereditary Breast and Ovarian Cancer Syndrome	Associate	18505086, 1939154
Hereditary leiomyomatosis and renal cell cancer	Associate	1936340
Hernias Diaphragmatic Congenital	Associate	26333573
Hip Injuries	Associate	11005785
HIV Infections	Associate	39519306
Hodgkin Disease	Associate	24141626
Huntington Disease	Associate	21769085
Hydatidiform Mole	Associate	11737472
Hydatidiform Mole Invasive	Associate	9119881
Hyperlipoproteinemia Type II	Associate	15100232, 19001363, 19224862, 7989866
Hypermanganesemia with Dystonia Polycythemia and Cirrhosis	Associate	24533580
Hyperplasia	Stimulate	11701445, 21505178
Hyperplasia	Associate	27709733, 36867212
Hypersensitivity Immediate	Associate	34706519
Hypertension Pulmonary	Associate	29845760, 35674115
Hypomagnesemia primary	Associate	19073827
Hypoplastic Left Heart Syndrome	Associate	36599283
Hypoxia	Stimulate	16399861, 26800359, 28330951, 29845760
Hypoxia	Associate	20920536, 24180698, 24914205, 25122487, 35674115
Hypoxia Brain	Associate	25068796, 29845760, 35674115
Idiopathic Hypogonadotropic Hypogonadism	Associate	33208564
Idiopathic Noncirrhotic Portal Hypertension	Associate	32711431
Idiopathic Pulmonary Fibrosis	Associate	37099633
IgA Vasculitis	Associate	8311538
Immunodeficiency due to Defect in MAPBP Interacting Protein	Inhibit	38017409
Immunologic Deficiency Syndromes	Associate	10233167
Infections	Associate	23090954
Inferior Wall Myocardial Infarction	Associate	27393708
Inflammation	Associate	17627770, 18094008, 18974130, 19010984, 24268047, 29567951, 34025636, 35457130
Inflammation	Stimulate	17660218
Inflammation	Inhibit	24708156, 28315470
Insulin Resistance	Associate	32651353
Insulinoma	Associate	11701445
Intervertebral Disc Degeneration	Associate	27075568
Intrahepatic Cholestasis of Pregnancy	Associate	35643225
Juvenile gout	Associate	19465746
Keratosis Seborrheic	Associate	1532884
Kidney Calculi	Associate	28314883
Kidney Diseases	Associate	19139726, 21354048, 29567951, 31165727, 31906817, 8943482
Kidney Failure Chronic	Associate	31906817
Kidney Neoplasms	Associate	31672701, 39780215
Laryngeal Neoplasms	Associate	25008564
Leber Congenital Amaurosis	Associate	17660513
Leiomyoma	Associate	1936340, 21821245
Leiomyosarcoma	Associate	16681772
Leukemia Large Granular Lymphocytic	Associate	32710512
Leukemia Lymphocytic Chronic B Cell	Associate	22479527
Leukemia Myeloid Acute	Associate	32587297
Lipodystrophy	Associate	18430964
Liver Cirrhosis	Associate	21212030, 22236006
Liver Neoplasms	Associate	32711431
Lumbar Stenosis Familial	Stimulate	36185336
Lung Diseases Interstitial	Stimulate	24819665
Lung Diseases Interstitial	Associate	24819665
Lung Neoplasms	Associate	14612408, 1503897, 16825508, 21546410, 25439778, 25680408, 27807951, 27873490, 28088176, 30022688, 30127783, 31104010, 32881389, 36504325
Lung Neoplasms	Stimulate	32240782
Lymphatic Metastasis	Associate	17316357, 20430735, 20430737, 31053624
Lymphatic Metastasis	Stimulate	18505086
Lymphoma T Cell	Stimulate	24350867
Macular Degeneration	Associate	34406330
Mammary Neoplasms Animal	Associate	2901952, 3494604
Marfan Syndrome	Associate	10486319, 11278305, 1569206, 7762551, 8116614, 8406497, 8653794, 8863159
Medullary cystic kidney disease 1	Associate	14531790
Medulloblastoma	Associate	25052069, 32818841
Melanoma	Associate	15373781, 16691190, 16847433, 19624835, 22456166, 22951722, 25749811, 26035829, 26967478, 27702651, 33916908, 37944197
Melanoma	Stimulate	34697202
Melanoma Cutaneous Malignant	Associate	16691190
Mesothelioma Malignant	Associate	12612292
Mitochondrial Diseases	Stimulate	15788397
Mouth Neoplasms	Associate	23778523, 25229239, 8286215
Mucus Inspissation of Respiratory Tract	Associate	15681504
Multicystic renal dysplasia bilateral	Inhibit	10886563
Multiple Myeloma	Associate	16732320, 34592762
Muscle Weakness	Associate	7762551
Myocardial Infarction	Associate	27835972
Myopathies Structural Congenital	Associate	31601953
Myotonic Dystrophy	Associate	36230978
Nasal Polyps	Associate	27285994, 27393708
Nasopharyngeal Carcinoma	Associate	29551087
Necrosis	Stimulate	1698031
Neoplasm Metastasis	Associate	14706341, 15084247, 15801978, 16507913, 18505086, 19864325, 20430737, 22701712, 23188829, 23936413, 24268047, 24721622, 27485121, 27797381, 32881844 View all (5 more)
Neoplasm Metastasis	Stimulate	19622585, 30736768, 32240782
Neoplasms	Associate	10081495, 10376963, 10584873, 11092985, 11226409, 11286474, 11920518, 12377812, 12869532, 12967482, 14684586, 14706341, 15084247, 15373781, 15373782 View all (160 more)
Neoplasms	Inhibit	12431987, 2380179, 33003324
Neoplasms	Stimulate	14504053, 16428382, 25122478, 26496080, 30563495, 30736768, 38225862
Neoplasms Cystic Mucinous and Serous	Associate	12377812
Neoplasms Squamous Cell	Associate	17912028
Neoplastic Syndromes Hereditary	Associate	34342048, 34474479
Nephritis Interstitial	Associate	17361117
Nephritis Interstitial	Inhibit	8648906
Neuroblastoma	Associate	10737605, 12358735, 21833997, 23144874, 35563171
Neurofibrosarcoma	Associate	17558420, 18650488, 18927496
Neuroma Acoustic	Associate	21659924
Nevus	Associate	9119881
Niemann Pick Disease Type C	Associate	19247499
Nonseminomatous germ cell tumor	Stimulate	14504053
Obesity	Associate	36996194
Odontogenic Cysts	Associate	9208810
Osteoporosis	Associate	32620113, 36451445, 40496565
Osteosarcoma	Associate	19670450, 29617357, 29751634, 32665038
Otitis Media	Inhibit	23576001
Ovarian Diseases	Associate	16394028, 32762950
Ovarian Neoplasms	Associate	10081495, 10811499, 1325950, 17322388, 19144868, 19608641, 20412119, 21643014, 22315226, 22430797, 22479527, 23172893, 24721622, 25533808, 26476080 View all (5 more)
Overweight	Stimulate	26268131
Pancreatic Neoplasms	Associate	12910515, 14521721, 15801978, 17452424, 21573184, 21729304, 22087246, 23426533, 25118635, 27035876, 31182586, 32696951, 35197444, 37503752, 8260363, 8751604 View all (1 more)
Papilloma	Associate	17592548
Parkinson Disease	Associate	21520231, 40405084
Peri Implantitis	Associate	34592884
Periapical Diseases	Associate	35195153
Periodontitis	Associate	34592884
Personality Disorders	Associate	36361790
Pick Disease of the Brain	Associate	34133521
Placenta Previa	Associate	37434137
Plaque Atherosclerotic	Associate	8432873
Pleural Effusion	Associate	25695223, 27301516
Poikiloderma of Kindler	Associate	30248333
Polycystic Kidney Autosomal Dominant	Associate	16797938, 31488014, 36914219
Polycystic Ovary Syndrome	Associate	26908109, 31251011, 34107718, 34480296, 37125425, 8654631
Polycythemia primary familial and congenital	Associate	24533580
Polyposis Syndrome Hereditary Mixed 1	Associate	29149105
Polyps	Associate	7681255
Post Acute COVID 19 Syndrome	Associate	38326527
Pre Eclampsia	Associate	34620174
Pre Eclampsia	Stimulate	37434137
Preauricular Tag Isolated Autosomal Dominant 1	Associate	1532884
Precancerous Conditions	Associate	33957136
Primary hyperoxaluria type 1	Associate	27161247
Prostatic Neoplasms	Associate	10360641, 11330643, 12841683, 15720812, 16728406, 16847055, 1739613, 17977648, 18036246, 18645679, 19143022, 19296525, 19544333, 20628053, 21640721 View all (15 more)
Prostatic Neoplasms	Stimulate	16238095, 20687230
Prostatitis	Associate	12874274, 26181434
Prostatitis	Stimulate	1939154
Prosthesis Failure	Stimulate	11005785
Protein Deficiency	Associate	24119107
Protein S Deficiency	Associate	8298131
Psoriasis	Associate	17204151, 33153894
Pterygium	Associate	32867783
Pulmonary Disease Chronic Obstructive	Associate	28345955
Pyruvate Carboxylase Deficiency Disease	Associate	22087246, 35197444
Radiation Injuries	Inhibit	24708156
Rectal Neoplasms	Associate	21673069, 34706519
Renal Insufficiency Chronic	Associate	17361117, 26631632, 33974569
Respiratory Distress Syndrome	Associate	19010984
Retinitis Pigmentosa	Associate	35816039
Retinopathy Pericentral Pigmentary Autosomal Recessive	Associate	35816039
Retinoschisis	Associate	33601057
Rhabdoid Tumor	Associate	11267936
Rhinitis Allergic	Inhibit	33626956
Salivary Gland Neoplasms	Associate	19174819
Sarcoidosis	Associate	11641969
Sarcoma	Associate	18506556
Schizophrenia	Associate	20161799, 26462502
Scleroderma Systemic	Associate	31178673
Shock Septic	Associate	33863396
Silver Russell Syndrome	Associate	22170793
Skin Neoplasms	Associate	23430747
Sleep Apnea Obstructive	Stimulate	35491659
Small Cell Lung Carcinoma	Associate	37215577, 39353908
Smoke Inhalation Injury	Associate	28345955
Spastic paraplegia 15 autosomal recessive	Associate	30081747
Spinal Cord Injuries	Associate	24968203
Spondylitis Ankylosing	Associate	17204151
Squamous Cell Carcinoma of Head and Neck	Associate	18594017, 20429940, 20621058, 23047035, 23405260, 25024430, 25229239, 25622907, 27797381, 27888616, 30017201, 30414263, 31601953, 31794546, 32069320, 35054968, 37679666 View all (2 more)
Squamous Cell Carcinoma of Head and Neck	Stimulate	19484147
Status Asthmaticus	Associate	20624651, 30639343
Stevens Johnson Syndrome	Associate	26808056
Stomach Neoplasms	Associate	12618892, 15647181, 17433039, 20164030, 20430735, 2108945, 21274378, 2168868, 23028903, 23511561, 23613900, 23840737, 24068402, 24728052, 24887009 View all (11 more)
Syndrome	Associate	2808704
Synovial Cyst	Associate	11229455
Tertiary Lymphoid Structures	Associate	18505086, 20430737
Thrombasthenia	Associate	34275420
Thyroid Cancer Papillary	Associate	3390372
Thyroid Carcinoma Anaplastic	Associate	25742642, 29236027
Thyroid Neoplasms	Associate	12733712, 17158762, 36094870
Thyroiditis	Associate	12733712
Tongue Neoplasms	Stimulate	8493451
Triple Negative Breast Neoplasms	Associate	19150933, 23921085, 26840086, 34718348, 38052106
Tuberculosis Pulmonary	Associate	26268131
Tuberous Sclerosis	Associate	16192644, 24606538
Ulcer	Associate	32812896
Urachal cancer	Associate	27178450
Urinary Bladder Diseases	Associate	1939154
Urinary Bladder Neoplasms	Associate	15583696, 22922989, 23300058, 30413194, 3316242, 9683296
Uterine Cervical Dysplasia	Associate	26880792
Uterine Cervical Neoplasms	Associate	11461094, 12967482, 17316357, 23284982, 23936413, 25124631, 29777148, 32319576, 36594087, 8618825
Uveal melanoma	Associate	32957329
Varicose Veins	Stimulate	24741602
Vascular Diseases	Associate	15734884, 8432873
Venous Insufficiency	Associate	24741602
Waldenstrom Macroglobulinemia	Inhibit	21921047
Wilms Tumor	Associate	30664180
Wounds and Injuries	Inhibit	24708156
Wounds and Injuries	Associate	30720135
Xeroderma Pigmentosum Complementation Group G	Associate	26149386

EGF (epidermal growth factor)