Source: INFERRED

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5048
Gene Symbol: PAFAH1B1
PAFAH1B1
CUI: C0036572
Disease: Seizures
Seizures 		0.110 CausalMutation CLINVAR Mosaic mutations of the LIS1 gene cause subcortical band heterotopia. 14581661

2003
Entrez Id: 5048
Gene Symbol: PAFAH1B1
PAFAH1B1
CUI: C0036572
Disease: Seizures
Seizures 		0.110 CausalMutation CLINVAR LIS1 missense mutations cause milder lissencephaly phenotypes including a child with normal IQ. 11502906

2001
Entrez Id: 5048
Gene Symbol: PAFAH1B1
PAFAH1B1
CUI: C0036572
Disease: Seizures
Seizures 		0.110 CausalMutation CLINVAR Subcortical band heterotopia in rare affected males can be caused by missense mutations in DCX (XLIS) or LIS1. 10441340

1999
Entrez Id: 5048
Gene Symbol: PAFAH1B1
PAFAH1B1
CUI: C0036572
Disease: Seizures
Seizures 		0.110 Biomarker HPO