rs782190413, SURF1

N. diseases: 2
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
SURF1-related Charcot-Marie-Tooth disease type 4
CUI: C4225246
Disease: SURF1-related Charcot-Marie-Tooth disease type 4
0.800 GeneticVariation UNIPROT SURF1 deficiency causes demyelinating Charcot-Marie-Tooth disease. 24027061 2013
SURF1-related Charcot-Marie-Tooth disease type 4
CUI: C4225246
Disease: SURF1-related Charcot-Marie-Tooth disease type 4
0.800 CausalMutation CLINVAR
Leigh Disease
CUI: C0023264
Disease: Leigh Disease
0.700 CausalMutation CLINVAR A rapid screening with direct sequencing from blood samples for the diagnosis of Leigh syndrome. 27896082 2014
Leigh Disease
CUI: C0023264
Disease: Leigh Disease
0.700 CausalMutation CLINVAR SURF1 deficiency: a multi-centre natural history study. 23829769 2013
Leigh Disease
CUI: C0023264
Disease: Leigh Disease
0.700 CausalMutation CLINVAR SURF1 deficiency causes demyelinating Charcot-Marie-Tooth disease. 24027061 2013
Leigh Disease
CUI: C0023264
Disease: Leigh Disease
0.700 CausalMutation CLINVAR Clinical and laboratory survey of 65 Chinese patients with Leigh syndrome. 16542579 2006
Leigh Disease
CUI: C0023264
Disease: Leigh Disease
0.700 CausalMutation CLINVAR [A new missense mutation of 574C>T in the SURF1 gene--biochemical and molecular genetic study in seven children with Leigh syndrome]. 12515039 2002