Disease: Penttinen-Aula syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1866182
Disease: Penttinen-Aula syndrome
Penttinen-Aula syndrome 		0.710 Biomarker disease BEFREE This constellation of phenotypes clearly distinguishes KOGS from other PDGFRB-related disorders, including idiopathic basal ganglia calcification, infantile myofibroma, and Penttinen-type premature aging syndrome. 31710779 2019
CUI: C1866182
Disease: Penttinen-Aula syndrome
Penttinen-Aula syndrome 		0.710 GeneticVariation disease UNIPROT A Point Mutation in PDGFRB Causes Autosomal-Dominant Penttinen Syndrome. 26279204 2015
CUI: C1866182
Disease: Penttinen-Aula syndrome
Penttinen-Aula syndrome 		0.710 GermlineCausalMutation disease ORPHANET A Point Mutation in PDGFRB Causes Autosomal-Dominant Penttinen Syndrome. 26279204 2015
CUI: C1866182
Disease: Penttinen-Aula syndrome
Penttinen-Aula syndrome 		0.710 Biomarker disease GENOMICS_ENGLAND A Point Mutation in PDGFRB Causes Autosomal-Dominant Penttinen Syndrome. 26279204 2015
CUI: C1866182
Disease: Penttinen-Aula syndrome
Penttinen-Aula syndrome 		0.710 Biomarker disease CTD_human
CUI: C1866182
Disease: Penttinen-Aula syndrome
Penttinen-Aula syndrome 		0.710 CausalMutation disease CLINVAR