FUZ, fuzzy planar cell polarity protein, 80199

N. diseases: 75; N. variants: 5
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs794729668
rs794729668
Entrez Id: 80199;81857
Gene Symbol: FUZ;MED25
FUZ;MED25
CUI: C4225323
Disease:
BASEL-VANAGAITE-SMIRIN-YOSEF SYNDROME 		0.800 GeneticVariation UNIPROT
dbSNP: rs794729668
rs794729668
Entrez Id: 80199;81857
Gene Symbol: FUZ;MED25
FUZ;MED25
CUI: C4225323
Disease:
BASEL-VANAGAITE-SMIRIN-YOSEF SYNDROME 		G 0.800 CausalMutation CLINVAR
dbSNP: rs137955120
rs137955120
Entrez Id: 160;80199;105372435
Gene Symbol: AP2A1;FUZ;LOC105372435
AP2A1;FUZ;LOC105372435
CUI: C3891448
Disease:
NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO 		T 0.700 SusceptibilityMutation CLINVAR
dbSNP: rs139365610
rs139365610
Entrez Id: 160;80199;105372435
Gene Symbol: AP2A1;FUZ;LOC105372435
AP2A1;FUZ;LOC105372435
CUI: C3891448
Disease:
NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO 		A 0.700 SusceptibilityMutation CLINVAR
dbSNP: rs387907204
rs387907204
Entrez Id: 80199
Gene Symbol: FUZ
FUZ
CUI: C3891448
Disease:
NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO 		A 0.700 SusceptibilityMutation CLINVAR
dbSNP: rs548706733
rs548706733
Entrez Id: 80199
Gene Symbol: FUZ
FUZ
CUI: C0024507
Disease:
Majewski Syndrome 		A 0.700 CausalMutation CLINVAR
dbSNP: rs794729668
rs794729668
Entrez Id: 80199;81857
Gene Symbol: FUZ;MED25
FUZ;MED25
CUI: C0036857
Disease:
Severe intellectual disability 		0.010 GeneticVariation BEFREE Using exome sequencing, we have been able to identify homozygous mutation p.(Tyr39Cys) in MED25 as the cause of a syndrome characterized by eye, brain, cardiac and palatal abnormalities as well as growth retardation, microcephaly and severe intellectual disability in seven patients from four unrelated families, all originating from the same village. 25792360 2015