hasGeneticCause

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

63 triples

GPTKB property

geneticCause

Subject	Object
gptkb:Four_Leaf_Clover	gptkb:mutant
gptkb:Congenital_Hyperinsulinism	ABCC8 gene mutation
gptkb:familial_partial_lipodystrophy_type_4	PLIN1 gene mutation
gptkb:Prader-Willi_syndrome	paternal deletion of 15q11-q13
gptkb:osteopetrosis	mutations in TNFSF11 gene
gptkb:Immunodeficiency_with_Elevated_IgE	gptkb:STAT3_mutation
gptkb:Congenital_Hyperinsulinism	KCNJ11 gene mutation
gptkb:mandibuloacral_dysplasia	mutation in ZMPSTE24 gene
gptkb:Parkinson_Disease,_Juvenile	mutation in PINK1 gene
gptkb:acute_neuronopathic_Gaucher_disease	mutation in GBA gene
gptkb:osteopetrosis	mutations in TNFRSF11A gene
gptkb:capillary_malformation-arteriovenous_malformation_(CM-AVM)	RASA1 gene mutation
gptkb:congenital_dyserythropoietic_anemia_type_IV	mutation in KLF1 gene
gptkb:Parkinson_Disease,_Juvenile	mutation in DJ-1 gene
gptkb:osteopetrosis	mutations in CLCN7 gene
gptkb:congenital_hyperinsulinism	ABCC8 gene mutation
gptkb:hereditary_sensory_neuropathy_type_1C	SPTLC2 gene mutation
gptkb:Marfanoid–progeroid–lipodystrophy_syndrome	FBN1 gene mutation
gptkb:MonoMAC_syndrome	GATA2 mutation
gptkb:wild-type_ATTR_amyloidosis	none (wild-type, not mutated)