Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 54496
Gene Symbol: PRMT7
PRMT7
0.120 GeneticVariation disease BEFREE We report a patient with short stature, psychomotor delay, hearing loss and brachydactyly, for whom whole exome sequencing detected two mutations in PRMT7 and parental segregation studies detected biallelic mutation inheritance. 30006058 2019
Entrez Id: 54496
Gene Symbol: PRMT7
PRMT7
0.120 Biomarker disease BEFREE Loss of the arginine methyltranserase PRMT7 causes syndromic intellectual disability with microcephaly and brachydactyly. 27718516 2017
Entrez Id: 54496
Gene Symbol: PRMT7
PRMT7
0.120 Biomarker disease HPO
Entrez Id: 54496
Gene Symbol: PRMT7
PRMT7
0.120 CausalMutation disease CLINVAR