Gene: HYLS1 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 219844
Gene Symbol: HYLS1
HYLS1 		0.510 GeneticVariation disease BEFREE We report living sibling patients with a homozygous no-stop mutation in exon 4 of HYLS1, NM_145014.2:c.900A>C (p.Ter300TyrextTer11) in the second decade of life.The proband has Joubert syndrome (JS). 26830932 2016
Entrez Id: 219844
Gene Symbol: HYLS1
HYLS1 		0.510 Biomarker disease GENOMICS_ENGLAND We report living sibling patients with a homozygous no-stop mutation in exon 4 of HYLS1, NM_145014.2:c.900A>C (p.Ter300TyrextTer11) in the second decade of life.The proband has Joubert syndrome (JS). 26830932 2016
Entrez Id: 219844
Gene Symbol: HYLS1
HYLS1 		0.510 GermlineCausalMutation disease ORPHANET We report living sibling patients with a homozygous no-stop mutation in exon 4 of HYLS1, NM_145014.2:c.900A>C (p.Ter300TyrextTer11) in the second decade of life.The proband has Joubert syndrome (JS). 26830932 2016
Entrez Id: 219844
Gene Symbol: HYLS1
HYLS1 		0.510 Biomarker disease GENOMICS_ENGLAND Hydrolethalus syndrome: neuropathology of 21 cases confirmed by HYLS1 gene mutation analysis. 18648327 2008
Entrez Id: 219844
Gene Symbol: HYLS1
HYLS1 		0.510 Biomarker disease GENOMICS_ENGLAND Hydrolethalus syndrome is caused by a missense mutation in a novel gene HYLS1. 15843405 2005