rs281875282, FREM1

N. diseases: 1
Disease: Marles Greenberg Persaud syndrome ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Marles Greenberg Persaud syndrome
CUI: C1855425
Disease: Marles Greenberg Persaud syndrome
0.700 GeneticVariation UNIPROT Novel FREM1 mutations in a patient with MOTA syndrome: Clinical findings, mutation update and review of FREM1-related disorders literature. 28111185 2017
Marles Greenberg Persaud syndrome
CUI: C1855425
Disease: Marles Greenberg Persaud syndrome
0.700 GeneticVariation UNIPROT Manitoba-oculo-tricho-anal (MOTA) syndrome is caused by mutations in FREM1. 21507892 2011