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
CUI: C0406767
Disease: Keratoderma with scleroatrophy of the extremities
Keratoderma with scleroatrophy of the extremities 		0.600 GermlineCausalMutation disease ORPHANET SMARCAD1 Haploinsufficiency Underlies Huriez Syndrome and Associated Skin Cancer Susceptibility. 29409814 2018
CUI: C1852150
Disease: Fingerprints, Absence of
Fingerprints, Absence of 		0.600 GermlineCausalMutation phenotype ORPHANET A mutation in a skin-specific isoform of SMARCAD1 causes autosomal-dominant adermatoglyphia. 21820097 2011
CUI: C0406767
Disease: Keratoderma with scleroatrophy of the extremities
Keratoderma with scleroatrophy of the extremities 		0.600 CausalMutation disease CLINVAR
CUI: C0406767
Disease: Keratoderma with scleroatrophy of the extremities
Keratoderma with scleroatrophy of the extremities 		0.600 Biomarker disease CTD_human
CUI: C1852150
Disease: Fingerprints, Absence of
Fingerprints, Absence of 		0.600 Biomarker phenotype CTD_human
CUI: C1852150
Disease: Fingerprints, Absence of
Fingerprints, Absence of 		0.600 Biomarker phenotype HPO
CUI: C1852150
Disease: Fingerprints, Absence of
Fingerprints, Absence of 		0.600 CausalMutation phenotype CLINVAR
CUI: C4551675
Disease: Keratoderma, Palmoplantar
Keratoderma, Palmoplantar 		0.400 Biomarker disease GENOMICS_ENGLAND Mutations in SMARCAD1 cause autosomal dominant adermatoglyphia and perturb the expression of epidermal differentiation-associated genes. 24909267 2014
CUI: C4551675
Disease: Keratoderma, Palmoplantar
Keratoderma, Palmoplantar 		0.400 Biomarker disease GENOMICS_ENGLAND Analysis of two candidate genes for Basan syndrome. 24664640 2014
CUI: C4551675
Disease: Keratoderma, Palmoplantar
Keratoderma, Palmoplantar 		0.400 Biomarker disease HPO
CUI: C0033578
Disease: Prostatic Neoplasms
Prostatic Neoplasms 		0.300 Biomarker group CTD_human The long tail of oncogenic drivers in prostate cancer. 29610475 2018
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		0.300 Biomarker disease CTD_human The long tail of oncogenic drivers in prostate cancer. 29610475 2018
CUI: C0265275
Disease: Jeune thoracic dystrophy
Jeune thoracic dystrophy 		0.200 Biomarker disease MGD
CUI: C0432195
Disease: Short rib dysplasia
Short rib dysplasia 		0.200 Biomarker disease MGD
CUI: C2910340
Disease: Asphyxiating thoracic dysplasia [Jeune]
Asphyxiating thoracic dysplasia [Jeune] 		0.200 Biomarker disease MGD
CUI: C0013575
Disease: Ectodermal Dysplasia
Ectodermal Dysplasia 		0.110 GeneticVariation disease BEFREE Basan gets a new fingerprint: Mutations in the skin-specific isoform of SMARCAD1 cause ectodermal dysplasia syndromes with adermatoglyphia. 30289605 2018
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.110 Biomarker group BEFREE We found that SMARCAD1 knockdown resulted in a significant decrease in breast cancer cell proliferation and colony formation, leading to the significant inhibition of tumour growth in both the chick embryo and nude mouse xenograft models. 30308496 2018