ST14, suppression of tumorigenicity 14, 6768

N. diseases: 170; N. variants: 9
Disease: Ichthyosis with hypotrichosis, autosomal recessive ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1835851
Disease: Ichthyosis with hypotrichosis, autosomal recessive
Ichthyosis with hypotrichosis, autosomal recessive 		0.750 GeneticVariation disease BEFREE Taken together, the data strongly advocate this ST14 variant as the underlying genetic cause of ARIH syndrome in this first reported affected family from Pakistan. 29611532 2018
CUI: C1835851
Disease: Ichthyosis with hypotrichosis, autosomal recessive
Ichthyosis with hypotrichosis, autosomal recessive 		0.750 GeneticVariation disease BEFREE Genetic defects in matriptase are linked to two congenital ichthyoses: autosomal recessive ichthyosis with hypotrichosis (ARIH, OMIM 610765) and ichthyosis, follicular atrophoderma, hypotrichosis, and hypohidrosis (IFAH, OMIM 602400). 23900022 2014
CUI: C1835851
Disease: Ichthyosis with hypotrichosis, autosomal recessive
Ichthyosis with hypotrichosis, autosomal recessive 		0.750 GeneticVariation disease UNIPROT Ichthyosis, follicular atrophoderma, and hypotrichosis caused by mutations in ST14 is associated with impaired profilaggrin processing. 18843291 2009
CUI: C1835851
Disease: Ichthyosis with hypotrichosis, autosomal recessive
Ichthyosis with hypotrichosis, autosomal recessive 		0.750 Biomarker disease CTD_human Autosomal recessive ichthyosis with hypotrichosis (ARIH) syndrome, which is characterized by congenital ichthyosis, abnormal hair and corneal involvement, has recently been shown in one consanguineous Israeli Arab family to be caused by a mutation in the ST14 gene, which encodes serine protease matriptase. 18445049 2008
CUI: C1835851
Disease: Ichthyosis with hypotrichosis, autosomal recessive
Ichthyosis with hypotrichosis, autosomal recessive 		0.750 GeneticVariation disease BEFREE Autosomal recessive ichthyosis with hypotrichosis (ARIH) syndrome, which is characterized by congenital ichthyosis, abnormal hair and corneal involvement, has recently been shown in one consanguineous Israeli Arab family to be caused by a mutation in the ST14 gene, which encodes serine protease matriptase. 18445049 2008
CUI: C1835851
Disease: Ichthyosis with hypotrichosis, autosomal recessive
Ichthyosis with hypotrichosis, autosomal recessive 		0.750 GeneticVariation disease BEFREE Mutation G827R in matriptase causing autosomal recessive ichthyosis with hypotrichosis yields an inactive protease. 18263585 2008
CUI: C1835851
Disease: Ichthyosis with hypotrichosis, autosomal recessive
Ichthyosis with hypotrichosis, autosomal recessive 		0.750 Biomarker disease BEFREE This work strongly indicates that reduced activity of a matriptase-prostasin proteolytic cascade is the etiological origin of human ARIH and provides an important mouse model for the exploration of matriptase function in ARIH, as well as multiple other physiological and pathological processes. 17940283 2007
CUI: C1835851
Disease: Ichthyosis with hypotrichosis, autosomal recessive
Ichthyosis with hypotrichosis, autosomal recessive 		0.750 GermlineCausalMutation disease ORPHANET Autosomal recessive ichthyosis with hypotrichosis caused by a mutation in ST14, encoding type II transmembrane serine protease matriptase. 17273967 2007
CUI: C1835851
Disease: Ichthyosis with hypotrichosis, autosomal recessive
Ichthyosis with hypotrichosis, autosomal recessive 		0.750 Biomarker disease CTD_human Autosomal recessive ichthyosis with hypotrichosis caused by a mutation in ST14, encoding type II transmembrane serine protease matriptase. 17273967 2007
CUI: C1835851
Disease: Ichthyosis with hypotrichosis, autosomal recessive
Ichthyosis with hypotrichosis, autosomal recessive 		0.750 GeneticVariation disease UNIPROT Autosomal recessive ichthyosis with hypotrichosis caused by a mutation in ST14, encoding type II transmembrane serine protease matriptase. 17273967 2007
CUI: C1835851
Disease: Ichthyosis with hypotrichosis, autosomal recessive
Ichthyosis with hypotrichosis, autosomal recessive 		0.750 CausalMutation disease CLINVAR
CUI: C1835851
Disease: Ichthyosis with hypotrichosis, autosomal recessive
Ichthyosis with hypotrichosis, autosomal recessive 		0.750 Biomarker disease GENOMICS_ENGLAND
CUI: C1835851
Disease: Ichthyosis with hypotrichosis, autosomal recessive
Ichthyosis with hypotrichosis, autosomal recessive 		0.750 Biomarker disease GENOMICS_ENGLAND