hasGeneticCause

URI: https://gptkb.org/prop/hasGeneticCause

63 triples

GPTKB property

geneticCause

Subject	Object
gptkb:Lennox-Gastaut_Epilepsy	rarely identified
gptkb:osteopetrosis	mutations in SNX10 gene
gptkb:osteopetrosis	mutations in CLCN7 gene
gptkb:Parkinson_Disease,_Juvenile	mutation in PINK1 gene
gptkb:microdeletion_of_chromosome_1q44	deletion of 1q44 region
gptkb:Parkinson_Disease,_Juvenile	mutation in PARK2 gene
gptkb:OPMD	mutation in PABPN1 gene
gptkb:congenital_hyperinsulinism	KCNJ11 gene mutation
gptkb:Marfanoid–progeroid–lipodystrophy_syndrome	FBN1 gene mutation
gptkb:spondyloepimetaphyseal_dysplasia_Pakistani_type	mutation in PAPSS2 gene
gptkb:congenital_hyperinsulinism	HNF4A gene mutation
gptkb:Congenital_Hyperinsulinism	HADH gene mutation
gptkb:capillary_malformation-arteriovenous_malformation_(CM-AVM)	RASA1 gene mutation
gptkb:WHIM_syndrome	mutation in CXCR4 gene
gptkb:capillary_malformation-arteriovenous_malformation_(CM-AVM)	EPHB4 gene mutation
gptkb:Charcot_disease_(ALS)	SOD1 mutation
gptkb:Unverricht-Lundborg_Epilepsy	mutation in CSTB gene
gptkb:congenital_hyperinsulinism	GCK gene mutation
gptkb:Charcot_disease_(ALS)	TARDBP mutation
gptkb:Müllerian_aplasia	gptkb:unknown