hasGeneticCause

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

63 triples

GPTKB property

geneticCause

Subject	Object
gptkb:osteopetrosis	mutations in OSTM1 gene
gptkb:congenital_hyperinsulinism	GLUD1 gene mutation
gptkb:Congenital_Hyperinsulinism	GCK gene mutation
gptkb:Congenital_Hyperinsulinism	HADH gene mutation
gptkb:congenital_hyperinsulinism	GCK gene mutation
gptkb:osteopetrosis	mutations in CAII gene
gptkb:acute_neuronopathic_Gaucher_disease	mutation in GBA gene
gptkb:Prader-Willi_syndrome	maternal uniparental disomy of chromosome 15
gptkb:MonoMAC_syndrome	GATA2 mutation
gptkb:Charcot_disease_(ALS)	C9orf72 mutation
gptkb:MOTA_syndrome	mutation in FREM1 gene
gptkb:congenital_hyperinsulinism	KCNJ11 gene mutation
gptkb:Parkinson_Disease,_Juvenile	mutation in PARK2 gene
gptkb:capillary_malformation-arteriovenous_malformation_(CM-AVM)	RASA1 gene mutation
gptkb:Prader-Willi_syndrome	paternal deletion of 15q11-q13
gptkb:capillary_malformation-arteriovenous_malformation_(CM-AVM)	EPHB4 gene mutation
gptkb:Charcot_disease_(ALS)	TARDBP mutation
gptkb:Four_Leaf_Clover	gptkb:mutant
gptkb:Zimmermann-Laband_syndrome_1	KCNH1 gene mutation
gptkb:osteopetrosis	mutations in LRP5 gene