hasGeneticCause

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

63 triples

GPTKB property

geneticCause

Subject	Object
gptkb:congenital_hyperinsulinism	KCNJ11 gene mutation
gptkb:Prader-Willi_syndrome	maternal uniparental disomy of chromosome 15
gptkb:osteopetrosis	mutations in CAII gene
gptkb:osteopetrosis	mutations in TNFRSF11A gene
gptkb:Neonatal_intrahepatic_cholestasis_caused_by_citrin_deficiency_(NICCD)	mutation in SLC25A13 gene
gptkb:congenital_hyperinsulinism	HNF1A gene mutation
gptkb:acute_neuronopathic_Gaucher_disease	mutation in GBA gene
gptkb:MOTA_syndrome	mutation in FREM1 gene
gptkb:Congenital_Hyperinsulinism	HADH gene mutation
gptkb:congenital_hyperinsulinism	GCK gene mutation
gptkb:osteopetrosis	mutations in SNX10 gene
gptkb:congenital_hyperinsulinism	ABCC8 gene mutation
gptkb:hereditary_sensory_neuropathy_type_1C	SPTLC2 gene mutation
gptkb:osteopetrosis	mutations in OSTM1 gene
gptkb:Charcot-Marie-Tooth_disease_type_4A	GDAP1 gene mutation
gptkb:Prader-Willi_syndrome	paternal deletion of 15q11-q13
gptkb:Unverricht-Lundborg_Epilepsy	mutation in CSTB gene
gptkb:osteopetrosis	mutations in PLEKHM1 gene
gptkb:OPMD	mutation in PABPN1 gene
gptkb:congenital_hyperinsulinism	HNF4A gene mutation