Disease: Dysmorphic features ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs797045865
rs797045865
Entrez Id: 5048
Gene Symbol: PAFAH1B1
PAFAH1B1
CUI: C0432072
Disease:
Dysmorphic features 		C 0.700 CausalMutation CLINVAR Lissencephaly: Expanded imaging and clinical classification. 28440899 2017
dbSNP: rs797045865
rs797045865
Entrez Id: 5048
Gene Symbol: PAFAH1B1
PAFAH1B1
CUI: C0432072
Disease:
Dysmorphic features 		C 0.700 CausalMutation CLINVAR The genetics of lissencephaly. 24862549 2014
dbSNP: rs797045865
rs797045865
Entrez Id: 5048
Gene Symbol: PAFAH1B1
PAFAH1B1
CUI: C0432072
Disease:
Dysmorphic features 		C 0.700 CausalMutation CLINVAR Lissencephaly and the molecular basis of neuronal migration. 12668601 2003
dbSNP: rs797045865
rs797045865
Entrez Id: 5048
Gene Symbol: PAFAH1B1
PAFAH1B1
CUI: C0432072
Disease:
Dysmorphic features 		C 0.700 CausalMutation CLINVAR LIS1 missense mutations cause milder lissencephaly phenotypes including a child with normal IQ. 11502906 2001
dbSNP: rs797045865
rs797045865
Entrez Id: 5048
Gene Symbol: PAFAH1B1
PAFAH1B1
CUI: C0432072
Disease:
Dysmorphic features 		C 0.700 CausalMutation CLINVAR LIS1 and XLIS (DCX) mutations cause most classical lissencephaly, but different patterns of malformation. 9817918 1998
dbSNP: rs797045865
rs797045865
Entrez Id: 5048
Gene Symbol: PAFAH1B1
PAFAH1B1
CUI: C0432072
Disease:
Dysmorphic features 		C 0.700 CausalMutation CLINVAR Point mutations and an intragenic deletion in LIS1, the lissencephaly causative gene in isolated lissencephaly sequence and Miller-Dieker syndrome. 9063735 1997