DisGeNET - a database of gene-disease associations

List of associated genes

Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate, C1864652

Source: ALL

Results per page

Gene

Disease

Variant

Source

DSI _v

DPI _v

pLI

Protein Class

Gene	Uniprot	Gene Full Name	Protein Class	pLI	DSI _v	DPI _v
HTC2		hypertrichosis 2 (generalized, congenital)			0.392	0.808
HUWE1	Q7Z6Z7	HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1	Enzyme	1.00	0.534	0.769
GRIN1	Q05586	glutamate ionotropic receptor NMDA type subunit 1	Ion channel	0.98	0.561	0.692
EFTUD2	Q15029	elongation factor Tu GTP binding domain containing 2	Enzyme	1.00	0.647	0.462