Source: CURATED

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 80856
Gene Symbol: LNPK
LNPK
CUI: C1866129
Disease: Abnormality of the cerebellum
Abnormality of the cerebellum 		0.300 Biomarker GENOMICS_ENGLAND Mutations in LNPK, Encoding the Endoplasmic Reticulum Junction Stabilizer Lunapark, Cause a Recessive Neurodevelopmental Syndrome. 30032983

2018
Entrez Id: 23241
Gene Symbol: PACS2
PACS2
CUI: C1866129
Disease: Abnormality of the cerebellum
Abnormality of the cerebellum 		0.300 Biomarker GENOMICS_ENGLAND Spatial Clustering of de Novo Missense Mutations Identifies Candidate Neurodevelopmental Disorder-Associated Genes. 28867141

2017
Entrez Id: 89884
Gene Symbol: LHX4
LHX4
CUI: C1866129
Disease: Abnormality of the cerebellum
Abnormality of the cerebellum 		0.300 Biomarker GENOMICS_ENGLAND Identifying the Deleterious Effect of Rare LHX4 Allelic Variants, a Challenging Issue. 25955177

2015
Entrez Id: 4330
Gene Symbol: MN1
MN1
CUI: C1866129
Disease: Abnormality of the cerebellum
Abnormality of the cerebellum 		0.300 Biomarker GENOMICS_ENGLAND Targeted disruption of the Mn1 oncogene results in severe defects in development of membranous bones of the cranial skeleton. 15870292

2005
Entrez Id: 55074
Gene Symbol: OXR1
OXR1
CUI: C1866129
Disease: Abnormality of the cerebellum
Abnormality of the cerebellum 		0.300 Biomarker GENOMICS_ENGLAND