NUP205, nucleoporin 205, 23165

N. diseases: 20; N. variants: 7
Disease: NEPHROTIC SYNDROME, TYPE 13 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4225165
Disease: NEPHROTIC SYNDROME, TYPE 13
NEPHROTIC SYNDROME, TYPE 13 		0.700 Biomarker disease GENOMICS_ENGLAND Mutations in nuclear pore genes NUP93, NUP205 and XPO5 cause steroid-resistant nephrotic syndrome. 26878725 2016
CUI: C4225165
Disease: NEPHROTIC SYNDROME, TYPE 13
NEPHROTIC SYNDROME, TYPE 13 		0.700 GeneticVariation disease UNIPROT Mutations in nuclear pore genes NUP93, NUP205 and XPO5 cause steroid-resistant nephrotic syndrome. 26878725 2016
CUI: C4225165
Disease: NEPHROTIC SYNDROME, TYPE 13
NEPHROTIC SYNDROME, TYPE 13 		0.700 Biomarker disease GENOMICS_ENGLAND Mutations in nuclear pore genes NUP93, NUP205 and XPO5 cause steroid-resistant nephrotic syndrome. 26878725 2016
CUI: C4225165
Disease: NEPHROTIC SYNDROME, TYPE 13
NEPHROTIC SYNDROME, TYPE 13 		0.700 CausalMutation disease CLINVAR
CUI: C4225165
Disease: NEPHROTIC SYNDROME, TYPE 13
NEPHROTIC SYNDROME, TYPE 13 		0.700 Biomarker disease CTD_human