PDE4D, phosphodiesterase 4D, 5144

N. diseases: 210; N. variants: 68
Disease: ACRODYSOSTOSIS 2 WITH OR WITHOUT HORMONE RESISTANCE ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3553250
Disease: ACRODYSOSTOSIS 2 WITH OR WITHOUT HORMONE RESISTANCE
ACRODYSOSTOSIS 2 WITH OR WITHOUT HORMONE RESISTANCE 		0.710 GeneticVariation disease BEFREE Our results provide new information concerning the mechanism whereby the mutations identified in the ACRDYS2 dysregulate PDE4D activity, and give insights into rare diseases involving the cAMP signaling pathway. 29016851 2017
CUI: C3553250
Disease: ACRODYSOSTOSIS 2 WITH OR WITHOUT HORMONE RESISTANCE
ACRODYSOSTOSIS 2 WITH OR WITHOUT HORMONE RESISTANCE 		0.710 GeneticVariation disease UNIPROT Identification of novel mutations confirms PDE4D as a major gene causing acrodysostosis. 23033274 2013
CUI: C3553250
Disease: ACRODYSOSTOSIS 2 WITH OR WITHOUT HORMONE RESISTANCE
ACRODYSOSTOSIS 2 WITH OR WITHOUT HORMONE RESISTANCE 		0.710 GeneticVariation disease UNIPROT Exome sequencing identifies PDE4D mutations in acrodysostosis. 22464252 2012
CUI: C3553250
Disease: ACRODYSOSTOSIS 2 WITH OR WITHOUT HORMONE RESISTANCE
ACRODYSOSTOSIS 2 WITH OR WITHOUT HORMONE RESISTANCE 		0.710 GeneticVariation disease UNIPROT Exome sequencing identifies PDE4D mutations as another cause of acrodysostosis. 22464250 2012
CUI: C3553250
Disease: ACRODYSOSTOSIS 2 WITH OR WITHOUT HORMONE RESISTANCE
ACRODYSOSTOSIS 2 WITH OR WITHOUT HORMONE RESISTANCE 		0.710 GeneticVariation disease UNIPROT PRKAR1A and PDE4D mutations cause acrodysostosis but two distinct syndromes with or without GPCR-signaling hormone resistance. 23043190 2012
CUI: C3553250
Disease: ACRODYSOSTOSIS 2 WITH OR WITHOUT HORMONE RESISTANCE
ACRODYSOSTOSIS 2 WITH OR WITHOUT HORMONE RESISTANCE 		0.710 Biomarker disease GENOMICS_ENGLAND
CUI: C3553250
Disease: ACRODYSOSTOSIS 2 WITH OR WITHOUT HORMONE RESISTANCE
ACRODYSOSTOSIS 2 WITH OR WITHOUT HORMONE RESISTANCE 		0.710 Biomarker disease GENOMICS_ENGLAND
CUI: C3553250
Disease: ACRODYSOSTOSIS 2 WITH OR WITHOUT HORMONE RESISTANCE
ACRODYSOSTOSIS 2 WITH OR WITHOUT HORMONE RESISTANCE 		0.710 CausalMutation disease CLINVAR
CUI: C3553250
Disease: ACRODYSOSTOSIS 2 WITH OR WITHOUT HORMONE RESISTANCE
ACRODYSOSTOSIS 2 WITH OR WITHOUT HORMONE RESISTANCE 		0.710 Biomarker disease CTD_human