hasGeneticCause

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

63 triples

GPTKB property

geneticCause

Subject	Object
gptkb:Charcot_disease_(ALS)	C9orf72 mutation
gptkb:Unverricht-Lundborg_Epilepsy	mutation in CSTB gene
gptkb:hereditary_sensory_neuropathy_type_1C	SPTLC2 gene mutation
gptkb:congenital_hyperinsulinism	GCK gene mutation
gptkb:Immunodeficiency_with_Elevated_IgE	gptkb:STAT3_mutation
gptkb:Congenital_Hyperinsulinism	GLUD1 gene mutation
gptkb:Hereditary_Hemorrhagic_Telangiectasia_type_4	mutation in GDF2 gene
gptkb:Parkinson_Disease,_Juvenile	mutation in PINK1 gene
gptkb:congenital_hyperinsulinism	GLUD1 gene mutation
gptkb:Parkinson_Disease,_Juvenile	mutation in DJ-1 gene
gptkb:osteopetrosis	mutations in TNFSF11 gene
gptkb:osteopetrosis	mutations in PLEKHM1 gene
gptkb:CPVT	RYR2 gene mutation
gptkb:Charcot_disease_(ALS)	SOD1 mutation
gptkb:Immunodeficiency_with_Elevated_IgE	gptkb:DOCK8_mutation
gptkb:mandibuloacral_dysplasia	mutation in LMNA gene
gptkb:WHIM_syndrome	mutation in CXCR4 gene
gptkb:congenital_hyperinsulinism	ABCC8 gene mutation
gptkb:congenital_dyserythropoietic_anemia_type_IV	mutation in KLF1 gene
gptkb:Charcot_disease_(ALS)	FUS mutation