DisGeNET - a database of gene-disease associations

List of associated genes

HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY, C1856058

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
MTHFR	P42898	methylenetetrahydrofolate reductase		3.2E-10	0.337	0.885
NR1H4	Q96RI1	nuclear receptor subfamily 1 group H member 4	Nuclear receptor	9.4E-04	0.513	0.808
SAA2	P0DJI9	serum amyloid A2	Transporter	2.7E-06	0.568	0.731
CYP7A1	P22680	cytochrome P450 family 7 subfamily A member 1	Enzyme	2.5E-04	0.576	0.615
IKZF2	Q9UKS7	IKAROS family zinc finger 2	Transcription factor	0.99	0.656	0.500