Disease: Basan syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0406707
Disease: Basan syndrome
Basan syndrome 		0.730 Biomarker disease BEFREE Sanger sequencing was performed on genomic DNA from a patient with Basan syndrome using primers designed to flank SMARCAD1. 30289605 2018
CUI: C0406707
Disease: Basan syndrome
Basan syndrome 		0.730 GermlineCausalMutation disease ORPHANET Genome-wide linkage analysis and whole-genome sequencing identify a recurrent SMARCAD1 variant in a unique Chinese family with Basan syndrome. 26932190 2016
CUI: C0406707
Disease: Basan syndrome
Basan syndrome 		0.730 GeneticVariation disease BEFREE A mutation in the SMARCAD1 gene was recently reported to cause Basan syndrome in one family. 26932190 2016
CUI: C0406707
Disease: Basan syndrome
Basan syndrome 		0.730 Biomarker disease GENOMICS_ENGLAND To identify the Basan syndrome gene, we sequenced keratin 14 (KRT14) and SMARCAD1 in a previously unreported kindred with the disease. 24664640 2014
CUI: C0406707
Disease: Basan syndrome
Basan syndrome 		0.730 Biomarker disease GENOMICS_ENGLAND Mutations in SMARCAD1 cause autosomal dominant adermatoglyphia and perturb the expression of epidermal differentiation-associated genes. 24909267 2014
CUI: C0406707
Disease: Basan syndrome
Basan syndrome 		0.730 Biomarker disease BEFREE To identify the Basan syndrome gene, we sequenced keratin 14 (KRT14) and SMARCAD1 in a previously unreported kindred with the disease. 24664640 2014
CUI: C0406707
Disease: Basan syndrome
Basan syndrome 		0.730 CausalMutation disease CLINVAR
CUI: C0406707
Disease: Basan syndrome
Basan syndrome 		0.730 Biomarker disease CTD_human