Gene: PYCR1 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5831
Gene Symbol: PYCR1
PYCR1 		0.700 Biomarker disease GENOMICS_ENGLAND Discriminative Features in Three Autosomal Recessive Cutis Laxa Syndromes: Cutis Laxa IIA, Cutis Laxa IIB, and Geroderma Osteoplastica. 28294978 2017
Entrez Id: 5831
Gene Symbol: PYCR1
PYCR1 		0.700 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
Entrez Id: 5831
Gene Symbol: PYCR1
PYCR1 		0.700 GeneticVariation disease UNIPROT Compound heterozygous mutations in PYCR1 further expand the phenotypic spectrum of De Barsy syndrome. 22052856 2011
Entrez Id: 5831
Gene Symbol: PYCR1
PYCR1 		0.700 GermlineCausalMutation disease ORPHANET Compound heterozygous mutations in PYCR1 further expand the phenotypic spectrum of De Barsy syndrome. 22052856 2011
Entrez Id: 5831
Gene Symbol: PYCR1
PYCR1 		0.700 GeneticVariation disease UNIPROT Mutations in PYCR1 cause cutis laxa with progeroid features. 19648921 2009
Entrez Id: 5831
Gene Symbol: PYCR1
PYCR1 		0.700 Biomarker disease CTD_human
Entrez Id: 5831
Gene Symbol: PYCR1
PYCR1 		0.700 CausalMutation disease CLINVAR
Entrez Id: 5831
Gene Symbol: PYCR1
PYCR1 		0.700 Biomarker disease GENOMICS_ENGLAND