hasGeneticCause

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

63 triples

GPTKB property

geneticCause

Subject	Object
gptkb:microdeletion_of_chromosome_1q44	deletion of 1q44 region
gptkb:osteopetrosis	mutations in SNX10 gene
gptkb:MOTA_syndrome	mutation in FREM1 gene
gptkb:congenital_generalized_lipodystrophy_type_4	CAVIN1 gene mutation
gptkb:osteopetrosis	mutations in PLEKHM1 gene
gptkb:Charcot_disease_(ALS)	SOD1 mutation
gptkb:osteopetrosis	mutations in TNFSF11 gene
gptkb:capillary_malformation-arteriovenous_malformation_(CM-AVM)	RASA1 gene mutation
gptkb:Marfanoid–progeroid–lipodystrophy_syndrome	FBN1 gene mutation
gptkb:Neonatal_intrahepatic_cholestasis_caused_by_citrin_deficiency_(NICCD)	mutation in SLC25A13 gene
gptkb:osteopetrosis	mutations in CLCN7 gene
gptkb:mandibuloacral_dysplasia	mutation in ZMPSTE24 gene
gptkb:Congenital_Hyperinsulinism	KCNJ11 gene mutation
gptkb:acute_neuronopathic_Gaucher_disease	mutation in GBA gene
gptkb:Congenital_Hyperinsulinism	ABCC8 gene mutation
gptkb:Schöpf_syndrome	mutation in WNT10A gene
gptkb:Coats_plus_syndrome_3	mutation in STN1 gene
gptkb:Parkinson_Disease,_Juvenile	mutation in DJ-1 gene
gptkb:wild-type_ATTR_amyloidosis	none (wild-type, not mutated)
gptkb:Charcot_disease_(ALS)	TARDBP mutation