Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4236
Gene Symbol: MFAP1
MFAP1
CUI: C0220659
Disease: Acrodysostosis
Acrodysostosis 		0.020 GeneticVariation BEFREE Heterozygous mutations in cyclic AMP phosphodiesterase-4D (PDE4D) and protein kinase A (PKA) provide new insights into the molecular pathology of acrodysostosis. 25064455

2014
Entrez Id: 4236
Gene Symbol: MFAP1
MFAP1
CUI: C0220659
Disease: Acrodysostosis
Acrodysostosis 		0.020 Biomarker BEFREE PDE4D encodes a cyclic AMP regulator and places PDE4D-related acrodysostosis within the same family of diseases as pseudohypoparathyroidism, pseudopseudohypoparathyroidism, PRKAR1A-related acrodysostosis and brachydactyly-mental retardation syndrome; all characterized by cognitive impairment and short distal extremities. 23033274

2013