Harmonizome 3.0

cutaneous malignant melanoma/dysplastic nevus

Malignant melanoma is a malignant neoplasm of melanocytes, arising de novo or from a pre-existing benign nevus, which occurs most often in the skin but also may involve other sites.[supplied by OMIM, Jul 2002]

epidermal growth factor receptor pathway substrate 15-like 1

Enables cadherin binding activity. Predicted to be involved in endosomal transport and synaptic vesicle endocytosis. Located in membrane. [provided by Alliance of Genome Resources, Mar 2025]

epidermal growth factor receptor pathway substrate 15

This gene encodes a protein that is part of the EGFR pathway. The protein is present at clatherin-coated pits and is involved in receptor-mediated endocytosis of EGF. Notably, this gene is rearranged with the HRX/ALL/MLL gene in acute myelogeneous leukemias. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, May 2009]

epidermal growth factor receptor pathway substrate 8

This gene encodes a member of the EPS8 family. This protein contains one PH domain and one SH3 domain. It functions as part of the EGFR pathway, though its exact role has not been determined. Highly similar proteins in other organisms are involved in the transduction of signals from Ras to Rac and growth factor-mediated actin remodeling. Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized. [provided by RefSeq, Jul 2008]

multiple epidermal growth factor-like domains protein 6

epidermal growth factor receptor

The protein encoded by this gene is a transmembrane glycoprotein that is a member of the protein kinase superfamily. This protein is a receptor for members of the epidermal growth factor family. EGFR is a cell surface protein that binds to epidermal growth factor, thus inducing receptor dimerization and tyrosine autophosphorylation leading to cell proliferation. Mutations in this gene are associated with lung cancer. EGFR is a component of the cytokine storm which contributes to a severe form of Coronavirus Disease 2019 (COVID-19) resulting from infection with severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2). [provided by RefSeq, Jul 2020]

epidermal growth factor receptor pathway substrate 15 pseudogene 1

epidermal growth factor

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 important role in the growth, proliferation and differentiation of numerous cell types. This protein acts by binding with high affinity to the cell surface receptor, epidermal growth factor receptor. Defects in this gene are the cause of hypomagnesemia type 4. Dysregulation of this gene has been associated with the growth and progression of certain cancers. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed. [provided by RefSeq, Jan 2016]

Speech-sound disorder

Orthostatic hypotensive disorder of Streeten

Major affective disorder-9, susceptibility to

Major affective disorder-8, susceptibility to

Major affective disorder 5

major affective disorder 1

Major affective disorder 3, early onset

Major depressive disorder 2

Major depressive disorder

major affective disorder 2

Major affective disorder 4

Major affective disorder 6

Attention deficit-hyperactivity disorder, susceptibility to, 2

Huntington-like neurodegenerative disorder 2

Panic disorder 1

panic disorder 2

panic disorder 3

Bleeding disorder, east Texas type

Attention deficit-hyperactivity disorder, susceptibility to, 4

Attention deficit-hyperactivity disorder, susceptibility to, 5

Attention deficit-hyperactivity disorder, susceptibility to, 6

Attention deficit-hyperactivity disorder, susceptibility to, 1

Attention deficit-hyperactivity disorder, susceptibility to, 2

schizophrenia disorder 8

schizophrenia disorder 7

schizophrenia disorder 6

schizophrenia disorder 1

schizophrenia disorder 3

schizophrenia disorder 10 (periodic catatonia)

Nail disorder, nonsyndromic congenital, 9

cerebellar ataxia 3 (cerebellar parenchyma disorder 1)

schizophrenia disorder 2

pigment disorder, reticulate