PRMT7, protein arginine methyltransferase 7, 54496

N. diseases: 65; N. variants: 13
Disease: Pseudohypoparathyroidism ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0033806
Disease: Pseudohypoparathyroidism
Pseudohypoparathyroidism 		0.110 GeneticVariation disease BEFREE Mutations in PRMT7 have been recently shown to be implicated in a phenotype with intellectual disability, short stature and brachydactyly, and considered to be a phenocopy of pseudohypoparathyroidism. 30006058 2019
CUI: C0033806
Disease: Pseudohypoparathyroidism
Pseudohypoparathyroidism 		0.110 Biomarker disease HPO