ECEL1, endothelin converting enzyme like 1, 9427

N. diseases: 60; N. variants: 21
Disease: Distal arthrogryposis type 5D ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3554415
Disease: Distal arthrogryposis type 5D
Distal arthrogryposis type 5D 		0.950 Biomarker disease GENOMICS_ENGLAND Autosomal recessive mutations in the ECEL1 gene have recently been associated with a wide phenotypic spectrum including severe congenital contractural syndromes and distal arthrogryposis type 5D (DA5D). 30131190 2018
CUI: C3554415
Disease: Distal arthrogryposis type 5D
Distal arthrogryposis type 5D 		0.950 GeneticVariation disease BEFREE Autosomal recessive mutations in the ECEL1 gene have recently been associated with a wide phenotypic spectrum including severe congenital contractural syndromes and distal arthrogryposis type 5D (DA5D). 30131190 2018
CUI: C3554415
Disease: Distal arthrogryposis type 5D
Distal arthrogryposis type 5D 		0.950 GeneticVariation disease BEFREE This is a case of a novel homozygous splice site mutation in the ECEL1 gene in a child with a phenotype consistent with distal arthrogryposis type 5D. 28114145 2017
CUI: C3554415
Disease: Distal arthrogryposis type 5D
Distal arthrogryposis type 5D 		0.950 GeneticVariation disease BEFREE Distal arthrogryposis type 5D with a novel ECEL1 gene mutation. 25099528 2014
CUI: C3554415
Disease: Distal arthrogryposis type 5D
Distal arthrogryposis type 5D 		0.950 GeneticVariation disease BEFREE Identification of three novel ECEL1 mutations in three families with distal arthrogryposis type 5D. 23829171 2014
CUI: C3554415
Disease: Distal arthrogryposis type 5D
Distal arthrogryposis type 5D 		0.950 GeneticVariation disease UNIPROT Expanding the phenotypic spectrum of ECEL1-related congenital contracture syndromes. 23808592 2014
CUI: C3554415
Disease: Distal arthrogryposis type 5D
Distal arthrogryposis type 5D 		0.950 GeneticVariation disease UNIPROT Identification of three novel ECEL1 mutations in three families with distal arthrogryposis type 5D. 23829171 2014
CUI: C3554415
Disease: Distal arthrogryposis type 5D
Distal arthrogryposis type 5D 		0.950 CausalMutation disease CLINVAR The neuronal endopeptidase ECEL1 is associated with a distinct form of recessive distal arthrogryposis. 23236030 2013
CUI: C3554415
Disease: Distal arthrogryposis type 5D
Distal arthrogryposis type 5D 		0.950 GeneticVariation disease UNIPROT Mutations in ECEL1 cause distal arthrogryposis type 5D. 23261301 2013
CUI: C3554415
Disease: Distal arthrogryposis type 5D
Distal arthrogryposis type 5D 		0.950 GeneticVariation disease BEFREE Mutations in ECEL1 cause distal arthrogryposis type 5D. 23261301 2013
CUI: C3554415
Disease: Distal arthrogryposis type 5D
Distal arthrogryposis type 5D 		0.950 GeneticVariation disease UNIPROT The neuronal endopeptidase ECEL1 is associated with a distinct form of recessive distal arthrogryposis. 23236030 2013
CUI: C3554415
Disease: Distal arthrogryposis type 5D
Distal arthrogryposis type 5D 		0.950 Biomarker disease GENOMICS_ENGLAND Mutations in ECEL1 cause distal arthrogryposis type 5D. 23261301 2013
CUI: C3554415
Disease: Distal arthrogryposis type 5D
Distal arthrogryposis type 5D 		0.950 GermlineCausalMutation disease ORPHANET Mutations in ECEL1 cause distal arthrogryposis type 5D. 23261301 2013
CUI: C3554415
Disease: Distal arthrogryposis type 5D
Distal arthrogryposis type 5D 		0.950 CausalMutation disease CLINVAR Mutations in ECEL1 cause distal arthrogryposis type 5D. 23261301 2013
CUI: C3554415
Disease: Distal arthrogryposis type 5D
Distal arthrogryposis type 5D 		0.950 Biomarker disease GENOMICS_ENGLAND
CUI: C3554415
Disease: Distal arthrogryposis type 5D
Distal arthrogryposis type 5D 		0.950 GeneticVariation disease CLINVAR
CUI: C3554415
Disease: Distal arthrogryposis type 5D
Distal arthrogryposis type 5D 		0.950 Biomarker disease CTD_human
CUI: C3554415
Disease: Distal arthrogryposis type 5D
Distal arthrogryposis type 5D 		0.950 Biomarker disease MGD