hasGeneticCause

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

63 triples

GPTKB property

geneticCause

Subject	Object
gptkb:Prader-Willi_syndrome	imprinting defect on chromosome 15
gptkb:Immunodeficiency_with_Elevated_IgE	gptkb:DOCK8_mutation
gptkb:congenital_hyperinsulinism	ABCC8 gene mutation
gptkb:osteopetrosis	mutations in OSTM1 gene
gptkb:Charcot-Marie-Tooth_disease_type_4A	GDAP1 gene mutation
gptkb:Congenital_Hyperinsulinism	ABCC8 gene mutation
gptkb:CPVT	RYR2 gene mutation
gptkb:capillary_malformation-arteriovenous_malformation_(CM-AVM)	RASA1 gene mutation
gptkb:Schöpf_syndrome	mutation in WNT10A gene
gptkb:CPVT	CASQ2 gene mutation
gptkb:Charcot_disease_(ALS)	SOD1 mutation
gptkb:osteopetrosis	mutations in CAII gene
gptkb:mandibuloacral_dysplasia	mutation in ZMPSTE24 gene
gptkb:Congenital_Hyperinsulinism	HADH gene mutation
gptkb:Prader-Willi_syndrome	maternal uniparental disomy of chromosome 15
gptkb:congenital_hyperinsulinism	KCNJ11 gene mutation
gptkb:Congenital_Hyperinsulinism	GLUD1 gene mutation
gptkb:hereditary_sensory_neuropathy_type_1C	SPTLC2 gene mutation
gptkb:Charcot_disease_(ALS)	C9orf72 mutation
gptkb:congenital_hyperinsulinism	HADH gene mutation