hasGeneticCause

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

63 triples

GPTKB property

geneticCause

Subject	Object
gptkb:mandibuloacral_dysplasia	mutation in ZMPSTE24 gene
gptkb:congenital_hyperinsulinism	HNF4A gene mutation
gptkb:Prader-Willi_syndrome	paternal deletion of 15q11-q13
gptkb:Unverricht-Lundborg_Epilepsy	mutation in CSTB gene
gptkb:osteopetrosis	mutations in CAII gene
gptkb:osteopetrosis	mutations in OSTM1 gene
gptkb:osteopetrosis	mutations in CLCN7 gene
gptkb:congenital_hyperinsulinism	HADH gene mutation
gptkb:Müllerian_aplasia	gptkb:unknown
gptkb:congenital_dyserythropoietic_anemia_type_IV	mutation in KLF1 gene
gptkb:congenital_generalized_lipodystrophy_type_4	CAVIN1 gene mutation
gptkb:osteopetrosis	mutations in PLEKHM1 gene
gptkb:mandibuloacral_dysplasia	mutation in LMNA gene
gptkb:congenital_hyperinsulinism	HNF1A gene mutation
gptkb:Charcot-Marie-Tooth_disease_type_4A	GDAP1 gene mutation
gptkb:OPMD	mutation in PABPN1 gene
gptkb:microdeletion_of_chromosome_1q44	deletion of 1q44 region
gptkb:Charcot_disease_(ALS)	C9orf72 mutation
gptkb:capillary_malformation-arteriovenous_malformation_(CM-AVM)	RASA1 gene mutation
gptkb:Prader-Willi_syndrome	maternal uniparental disomy of chromosome 15