Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1836330
Disease: ERYTHROKERATODERMIA VARIABILIS 3 (disorder)
ERYTHROKERATODERMIA VARIABILIS 3 (disorder) 		0.750 Biomarker disease BEFREE Together, these results confirm AP1S1 as the gene responsible for MEDNIK syndrome and demonstrate a critical role of AP1S1 in development of the skin and spinal cord. 19057675 2008
CUI: C1836330
Disease: ERYTHROKERATODERMIA VARIABILIS 3 (disorder)
ERYTHROKERATODERMIA VARIABILIS 3 (disorder) 		0.750 Biomarker disease CTD_human We solved the pathogenetic mechanism of MEDNIK syndrome, demonstrating that AP1S1 regulates intracellular copper machinery mediated by copper-pump proteins. 23423674 2013
CUI: C1836330
Disease: ERYTHROKERATODERMIA VARIABILIS 3 (disorder)
ERYTHROKERATODERMIA VARIABILIS 3 (disorder) 		0.750 Biomarker disease GENOMICS_ENGLAND MEDNIK syndrome is caused by mutation of the AP1S1 gene, which codes for the σ1A subunit of adaptor protein complex 1, and directs intracellular trafficking of copper pumps ATP7A and ATP7B. 24754424 2014
CUI: C1836330
Disease: ERYTHROKERATODERMIA VARIABILIS 3 (disorder)
ERYTHROKERATODERMIA VARIABILIS 3 (disorder) 		0.750 GeneticVariation disease BEFREE Erythrokeratodermia variabilis 3 (Kamouraska type) or EKV3 is a newly described autosomal recessive disorder observed in patients from the Bas St-Laurent region of Quebec. 15668823 2005
CUI: C1836330
Disease: ERYTHROKERATODERMIA VARIABILIS 3 (disorder)
ERYTHROKERATODERMIA VARIABILIS 3 (disorder) 		0.750 CausalMutation disease CLINVAR
CUI: C1836330
Disease: ERYTHROKERATODERMIA VARIABILIS 3 (disorder)
ERYTHROKERATODERMIA VARIABILIS 3 (disorder) 		0.750 Biomarker disease GENOMICS_ENGLAND We solved the pathogenetic mechanism of MEDNIK syndrome, demonstrating that AP1S1 regulates intracellular copper machinery mediated by copper-pump proteins. 23423674 2013
CUI: C1836330
Disease: ERYTHROKERATODERMIA VARIABILIS 3 (disorder)
ERYTHROKERATODERMIA VARIABILIS 3 (disorder) 		0.750 Biomarker disease GENOMICS_ENGLAND Together, these results confirm AP1S1 as the gene responsible for MEDNIK syndrome and demonstrate a critical role of AP1S1 in development of the skin and spinal cord. 19057675 2008
CUI: C1836330
Disease: ERYTHROKERATODERMIA VARIABILIS 3 (disorder)
ERYTHROKERATODERMIA VARIABILIS 3 (disorder) 		0.750 GeneticVariation disease BEFREE MEDNIK syndrome (mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma) is an autosomal-recessive disorder caused by bi-allelic mutations in AP1S1, encoding the small σ subunit of the AP-1 complex. 31630791 2019
CUI: C1836330
Disease: ERYTHROKERATODERMIA VARIABILIS 3 (disorder)
ERYTHROKERATODERMIA VARIABILIS 3 (disorder) 		0.750 GermlineCausalMutation disease ORPHANET Together, these results confirm AP1S1 as the gene responsible for MEDNIK syndrome and demonstrate a critical role of AP1S1 in development of the skin and spinal cord. 19057675 2008
CUI: C1836330
Disease: ERYTHROKERATODERMIA VARIABILIS 3 (disorder)
ERYTHROKERATODERMIA VARIABILIS 3 (disorder) 		0.750 Biomarker disease BEFREE AP1S1 defect causing MEDNIK syndrome: a new adaptinopathy associated with defective copper metabolism. 24754424 2014
CUI: C1836330
Disease: ERYTHROKERATODERMIA VARIABILIS 3 (disorder)
ERYTHROKERATODERMIA VARIABILIS 3 (disorder) 		0.750 GeneticVariation disease BEFREE MEDNIK syndrome with a frame shift causing mutation in AP1S1 gene and literature review of the clinical features. 30244301 2018
CUI: C0008372
Disease: Intrahepatic Cholestasis
Intrahepatic Cholestasis 		0.400 Biomarker disease HPO
CUI: C0008372
Disease: Intrahepatic Cholestasis
Intrahepatic Cholestasis 		0.400 Biomarker disease CTD_human A Sephardic-Jewish patient, carrying a new AP1S1 homozygous mutation, showed severe perturbations of copper metabolism with hypocupremia, hypoceruloplasminemia and liver copper accumulation, along with intrahepatic cholestasis. 23423674 2013
CUI: C0023794
Disease: Lipoidosis
Lipoidosis 		0.300 Biomarker disease CTD_human Determination of phospholipidosis potential based on gene expression analysis in HepG2 cells. 17175557 2007
CUI: C0020757
Disease: Ichthyoses
Ichthyoses 		0.110 Biomarker disease BEFREE EKV3 is also characterized by ichthyosis, sensorineural hearing loss, peripheral neuropathy, psychomotor retardation, congenital chronic diarrhea, and an elevation of very long chain fatty acids (VLCFAs). 15668823 2005
CUI: C0020757
Disease: Ichthyoses
Ichthyoses 		0.110 Biomarker disease HPO
CUI: C0008370
Disease: Cholestasis
Cholestasis 		0.100 Biomarker disease HPO
CUI: C0239946
Disease: Fibrosis, Liver
Fibrosis, Liver 		0.100 Biomarker disease HPO
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.100 Biomarker disease HPO
CUI: C0870082
Disease: Hyperkeratosis
Hyperkeratosis 		0.100 Biomarker disease HPO
CUI: C1623038
Disease: Cirrhosis
Cirrhosis 		0.100 Biomarker disease HPO
CUI: C0020758
Disease: Congenital ichthyosis
Congenital ichthyosis 		0.010 Biomarker disease BEFREE EKV3 is also characterized by ichthyosis, sensorineural hearing loss, peripheral neuropathy, psychomotor retardation, congenital chronic diarrhea, and an elevation of very long chain fatty acids (VLCFAs). 15668823 2005
CUI: C0025362
Disease: Mental Retardation
Mental Retardation 		0.010 Biomarker disease BEFREE MEDNIK (mental retardation, enteropathy, deafness, neuropathy, ichthyosis, and keratodermia) syndrome has been recently described as a new disorder of copper metabolism. 24754424 2014
CUI: C0265316
Disease: Neurocutaneous Syndromes
Neurocutaneous Syndromes 		0.010 GeneticVariation disease LHGDN Disruption of AP1S1, causing a novel neurocutaneous syndrome, perturbs development of the skin and spinal cord. 19057675 2008
CUI: C0268070
Disease: Hypocupremia
Hypocupremia 		0.010 GeneticVariation disease BEFREE A Sephardic-Jewish patient, carrying a new AP1S1 homozygous mutation, showed severe perturbations of copper metabolism with hypocupremia, hypoceruloplasminemia and liver copper accumulation, along with intrahepatic cholestasis. 23423674 2013