ADAM10, ADAM metallopeptidase domain 10, 102

N. diseases: 224; N. variants: 27
Disease: Reticulate acropigmentation of Kitamura ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0406811
Disease: Reticulate acropigmentation of Kitamura
Reticulate acropigmentation of Kitamura 		0.720 Biomarker disease BEFREE Ten years later, the causative gene of RAK was identified as ADAM10 by whole-exome sequencing, in 2013. 30692041 2019
CUI: C0406811
Disease: Reticulate acropigmentation of Kitamura
Reticulate acropigmentation of Kitamura 		0.720 Biomarker disease GENOMICS_ENGLAND Sanger sequencing of four additional unrelated RAK patients revealed four additional ADAM10 mutations. 23666529 2013
CUI: C0406811
Disease: Reticulate acropigmentation of Kitamura
Reticulate acropigmentation of Kitamura 		0.720 GermlineCausalMutation disease ORPHANET Sanger sequencing of four additional unrelated RAK patients revealed four additional ADAM10 mutations. 23666529 2013
CUI: C0406811
Disease: Reticulate acropigmentation of Kitamura
Reticulate acropigmentation of Kitamura 		0.720 GeneticVariation disease UNIPROT Sanger sequencing of four additional unrelated RAK patients revealed four additional ADAM10 mutations. 23666529 2013
CUI: C0406811
Disease: Reticulate acropigmentation of Kitamura
Reticulate acropigmentation of Kitamura 		0.720 Biomarker disease BEFREE A mutation in ADAM10 encoding a zinc metalloprotease, a disintegrin and metalloprotease domain-containing protein 10 (ADAM10), was identified in the RAK family. 23666529 2013
CUI: C0406811
Disease: Reticulate acropigmentation of Kitamura
Reticulate acropigmentation of Kitamura 		0.720 CausalMutation disease CLINVAR
CUI: C0406811
Disease: Reticulate acropigmentation of Kitamura
Reticulate acropigmentation of Kitamura 		0.720 Biomarker disease CTD_human