Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus 		0.630 GeneticVariation disease BEFREE A mutation in the hydin gene has been recently described as one possible mechanism leading to lethal congenital hydrocephalus in mice, and a similar defect is proposed to be involved in an autosomal recessive form of hydrocephalus in human. 24777681 2013
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus 		0.630 GeneticVariation disease BEFREE Almost 70 years after the hy3 mouse possessing Hydin mutations was described as a recessive hydrocephalus model, we report HYDIN mutations in PCD-affected persons without hydrocephalus. 23022101 2012
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus 		0.630 GeneticVariation disease BEFREE Notably, a paralog of the HYDIN gene located on 16q22.2 and implicated in autosomal recessive hydrocephalus was inserted into the 1q21.1 region during the evolution of Homo sapiens; we found this locus to be deleted or duplicated in the individuals we studied, making it a probable candidate for the head size abnormalities observed. 19029900 2008
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus 		0.630 Biomarker disease CTD_human Notably, a paralog of the HYDIN gene located on 16q22.2 and implicated in autosomal recessive hydrocephalus was inserted into the 1q21.1 region during the evolution of Homo sapiens; we found this locus to be deleted or duplicated in the individuals we studied, making it a probable candidate for the head size abnormalities observed. 19029900 2008
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus 		0.630 Biomarker disease CTD_human Congenital hydrocephalus in hy3 mice is caused by a frameshift mutation in Hydin, a large novel gene. 12719380 2003
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus 		0.630 Biomarker disease MGD Hydrocephalus-3, a Murine mutant. II. Changes in the brain extracellular space. 4732188 1973
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus 		0.630 Biomarker disease MGD The pathophysiology and morphology of murine hydrocephalus in Hy-3 and Ch mutants. 4784576 1973
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus 		0.630 Biomarker disease HPO
CUI: C1837615
Disease: Ciliary Dyskinesia, Primary, 5
Ciliary Dyskinesia, Primary, 5 		0.600 Biomarker disease GENOMICS_ENGLAND Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study. 30712880 2019
CUI: C1837615
Disease: Ciliary Dyskinesia, Primary, 5
Ciliary Dyskinesia, Primary, 5 		0.600 Biomarker disease GENOMICS_ENGLAND Recessive HYDIN mutations cause primary ciliary dyskinesia without randomization of left-right body asymmetry. 23022101 2012
CUI: C1837615
Disease: Ciliary Dyskinesia, Primary, 5
Ciliary Dyskinesia, Primary, 5 		0.600 Biomarker disease GENOMICS_ENGLAND
CUI: C1837615
Disease: Ciliary Dyskinesia, Primary, 5
Ciliary Dyskinesia, Primary, 5 		0.600 Biomarker disease GENOMICS_ENGLAND
CUI: C1837615
Disease: Ciliary Dyskinesia, Primary, 5
Ciliary Dyskinesia, Primary, 5 		0.600 Biomarker disease CTD_human
CUI: C1837615
Disease: Ciliary Dyskinesia, Primary, 5
Ciliary Dyskinesia, Primary, 5 		0.600 CausalMutation disease CLINVAR
CUI: C4551906
Disease: Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus
Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus 		0.400 GermlineCausalMutation disease ORPHANET Recessive HYDIN mutations cause primary ciliary dyskinesia without randomization of left-right body asymmetry. 23022101 2012
CUI: C1531647
Disease: Cerebral ventriculomegaly
Cerebral ventriculomegaly 		0.400 Biomarker phenotype CTD_human Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities. 19029900 2008
CUI: C1531647
Disease: Cerebral ventriculomegaly
Cerebral ventriculomegaly 		0.400 Biomarker phenotype CTD_human Congenital hydrocephalus in hy3 mice is caused by a frameshift mutation in Hydin, a large novel gene. 12719380 2003
CUI: C1531647
Disease: Cerebral ventriculomegaly
Cerebral ventriculomegaly 		0.400 Biomarker phenotype HPO
CUI: C4551906
Disease: Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus
Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus 		0.400 CausalMutation disease CLINVAR
CUI: C0020256
Disease: Congenital Hydrocephalus
Congenital Hydrocephalus 		0.320 GeneticVariation disease BEFREE A mutation in the hydin gene has been recently described as one possible mechanism leading to lethal congenital hydrocephalus in mice, and a similar defect is proposed to be involved in an autosomal recessive form of hydrocephalus in human. 24777681 2013
CUI: C0020256
Disease: Congenital Hydrocephalus
Congenital Hydrocephalus 		0.320 Biomarker disease CTD_human Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities. 19029900 2008
CUI: C0020256
Disease: Congenital Hydrocephalus
Congenital Hydrocephalus 		0.320 GeneticVariation disease BEFREE The HYDIN gene located in human chromosome band 16q22.2 is a large gene encompassing 423 kb of genomic DNA that has been suggested as a candidate for an autosomal recessive form of congenital hydrocephalus. 16938426 2006
CUI: C0020256
Disease: Congenital Hydrocephalus
Congenital Hydrocephalus 		0.320 Biomarker disease CTD_human Congenital hydrocephalus in hy3 mice is caused by a frameshift mutation in Hydin, a large novel gene. 12719380 2003
CUI: C0022521
Disease: Kartagener Syndrome
Kartagener Syndrome 		0.310 GermlineCausalMutation disease ORPHANET Recessive HYDIN mutations cause primary ciliary dyskinesia without randomization of left-right body asymmetry. 23022101 2012
CUI: C0022521
Disease: Kartagener Syndrome
Kartagener Syndrome 		0.310 GeneticVariation disease BEFREE Recessive HYDIN mutations cause primary ciliary dyskinesia without randomization of left-right body asymmetry. 23022101 2012