hasGeneticCause

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

63 triples

GPTKB property

geneticCause

Subject	Object
gptkb:congenital_hyperinsulinism	HADH gene mutation
gptkb:Four_Leaf_Clover	gptkb:mutant
gptkb:Müllerian_aplasia	gptkb:unknown
gptkb:Neonatal_intrahepatic_cholestasis_caused_by_citrin_deficiency_(NICCD)	mutation in SLC25A13 gene
gptkb:Hereditary_Hemorrhagic_Telangiectasia_type_4	mutation in GDF2 gene
gptkb:Charcot_disease_(ALS)	SOD1 mutation
gptkb:osteopetrosis	mutations in PLEKHM1 gene
gptkb:osteopetrosis	mutations in TNFSF11 gene
gptkb:Charcot_disease_(ALS)	C9orf72 mutation
gptkb:Lennox-Gastaut_Epilepsy	rarely identified
gptkb:congenital_hyperinsulinism	HNF1A gene mutation
gptkb:congenital_generalized_lipodystrophy_type_4	CAVIN1 gene mutation
gptkb:capillary_malformation-arteriovenous_malformation_(CM-AVM)	EPHB4 gene mutation
gptkb:OPMD	mutation in PABPN1 gene
gptkb:Parkinson_Disease,_Juvenile	mutation in PINK1 gene
gptkb:Immunodeficiency_with_Elevated_IgE	gptkb:STAT3_mutation
gptkb:Congenital_Hyperinsulinism	KCNJ11 gene mutation
gptkb:Congenital_Hyperinsulinism	GLUD1 gene mutation
gptkb:Marfanoid–progeroid–lipodystrophy_syndrome	FBN1 gene mutation
gptkb:CPVT	CASQ2 gene mutation