Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1856016
Disease: HYDROLETHALUS SYNDROME 1
HYDROLETHALUS SYNDROME 1 		0.700 Biomarker disease GENOMICS_ENGLAND A novel HYLS1 homozygous mutation in living siblings with Joubert syndrome. 26830932 2016
CUI: C1856016
Disease: HYDROLETHALUS SYNDROME 1
HYDROLETHALUS SYNDROME 1 		0.700 Biomarker disease GENOMICS_ENGLAND Hydrolethalus syndrome: neuropathology of 21 cases confirmed by HYLS1 gene mutation analysis. 18648327 2008
CUI: C1856016
Disease: HYDROLETHALUS SYNDROME 1
HYDROLETHALUS SYNDROME 1 		0.700 GeneticVariation disease UNIPROT Hydrolethalus syndrome is caused by a missense mutation in a novel gene HYLS1. 15843405 2005
CUI: C1856016
Disease: HYDROLETHALUS SYNDROME 1
HYDROLETHALUS SYNDROME 1 		0.700 Biomarker disease GENOMICS_ENGLAND Hydrolethalus syndrome is caused by a missense mutation in a novel gene HYLS1. 15843405 2005
CUI: C1856016
Disease: HYDROLETHALUS SYNDROME 1
HYDROLETHALUS SYNDROME 1 		0.700 Biomarker disease CTD_human
CUI: C1856016
Disease: HYDROLETHALUS SYNDROME 1
HYDROLETHALUS SYNDROME 1 		0.700 CausalMutation disease CLINVAR
CUI: C1856016
Disease: HYDROLETHALUS SYNDROME 1
HYDROLETHALUS SYNDROME 1 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		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
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		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
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		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
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.510 Biomarker disease GENOMICS_ENGLAND Hydrolethalus syndrome: neuropathology of 21 cases confirmed by HYLS1 gene mutation analysis. 18648327 2008
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.510 Biomarker disease GENOMICS_ENGLAND Hydrolethalus syndrome is caused by a missense mutation in a novel gene HYLS1. 15843405 2005
CUI: C2931104
Disease: Hydrolethalus syndrome
Hydrolethalus syndrome 		0.440 Biomarker disease BEFREE The hydrolethalus syndrome protein HYLS-1 is the only centriolar protein known to remain at the base of mature cilia and is required for intraflagellar transport trafficking. 28411189 2017
CUI: C2931104
Disease: Hydrolethalus syndrome
Hydrolethalus syndrome 		0.440 GeneticVariation disease BEFREE The p.Asp211Gly homozygous HYLS1 mutation is so far known to cause only hydrolethalus syndrome, a lethal malformation syndrome. 26830932 2016
CUI: C2931104
Disease: Hydrolethalus syndrome
Hydrolethalus syndrome 		0.440 GeneticVariation disease BEFREE A single amino acid change in human HYLS1 leads to a perinatal lethal disorder termed hydrolethalus syndrome, and we show that this mutation impairs HYLS-1 function in ciliogenesis. 19656802 2009
CUI: C2931104
Disease: Hydrolethalus syndrome
Hydrolethalus syndrome 		0.440 CausalMutation disease CLINVAR Unraveling the disease pathogenesis behind lethal hydrolethalus syndrome revealed multiple changes in molecular and cellular level. 19400947 2009
CUI: C2931104
Disease: Hydrolethalus syndrome
Hydrolethalus syndrome 		0.440 CausalMutation disease CLINVAR Hydrolethalus syndrome is inherited in an autosomal recessive manner and is caused by a missense mutation in the HYLS1 gene. 18648327 2008
CUI: C2931104
Disease: Hydrolethalus syndrome
Hydrolethalus syndrome 		0.440 GermlineCausalMutation disease ORPHANET Hydrolethalus syndrome is inherited in an autosomal recessive manner and is caused by a missense mutation in the HYLS1 gene. 18648327 2008
CUI: C2931104
Disease: Hydrolethalus syndrome
Hydrolethalus syndrome 		0.440 GermlineCausalMutation disease ORPHANET Hydrolethalus syndrome is caused by a missense mutation in a novel gene HYLS1. 15843405 2005
CUI: C2931104
Disease: Hydrolethalus syndrome
Hydrolethalus syndrome 		0.440 GeneticVariation disease BEFREE Hydrolethalus syndrome is caused by a missense mutation in a novel gene HYLS1. 15843405 2005
CUI: C2931104
Disease: Hydrolethalus syndrome
Hydrolethalus syndrome 		0.440 CausalMutation disease CLINVAR Hydrolethalus syndrome is caused by a missense mutation in a novel gene HYLS1. 15843405 2005
CUI: C2931104
Disease: Hydrolethalus syndrome
Hydrolethalus syndrome 		0.440 CausalMutation disease CLINVAR Hydrolethalus syndrome. 2074561 1990
CUI: C4551568
Disease: Joubert syndrome 1
Joubert syndrome 1 		0.300 GermlineCausalMutation disease ORPHANET A novel HYLS1 homozygous mutation in living siblings with Joubert syndrome. 26830932 2016
CUI: C0152427
Disease: Polydactyly
Polydactyly 		0.300 Biomarker disease GENOMICS_ENGLAND
CUI: C3714506
Disease: Meckel syndrome type 1
Meckel syndrome type 1 		0.300 Biomarker disease GENOMICS_ENGLAND