hasGeneticCause

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

63 triples

GPTKB property

geneticCause

Subject	Object
gptkb:osteopetrosis	mutations in TNFRSF11A gene
gptkb:microdeletion_of_chromosome_1q44	deletion of 1q44 region
gptkb:congenital_dyserythropoietic_anemia_type_IV	mutation in KLF1 gene
gptkb:Parkinson_Disease,_Juvenile	mutation in PINK1 gene
gptkb:Charcot_disease_(ALS)	FUS mutation
gptkb:wild-type_ATTR_amyloidosis	none (wild-type, not mutated)
gptkb:Congenital_Hyperinsulinism	KCNJ11 gene mutation
gptkb:acute_neuronopathic_Gaucher_disease	mutation in GBA gene
gptkb:Congenital_Hyperinsulinism	GLUD1 gene mutation
gptkb:golden_tiger	recessive gene
gptkb:Zimmermann-Laband_syndrome_1	KCNH1 gene mutation
gptkb:Marfanoid–progeroid–lipodystrophy_syndrome	FBN1 gene mutation
gptkb:CPVT	CASQ2 gene mutation
gptkb:osteopetrosis	mutations in LRP5 gene
gptkb:osteopetrosis	mutations in TCIRG1 gene
gptkb:Prader-Willi_syndrome	maternal uniparental disomy of chromosome 15
gptkb:hereditary_sensory_neuropathy_type_1C	SPTLC2 gene mutation
gptkb:osteopetrosis	mutations in CAII gene
gptkb:congenital_generalized_lipodystrophy_type_4	CAVIN1 gene mutation
gptkb:Charcot_disease_(ALS)	SOD1 mutation