hasGeneticCause

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

63 triples

GPTKB property

geneticCause

Subject	Object
gptkb:osteopetrosis	mutations in TNFSF11 gene
gptkb:Prader-Willi_syndrome	imprinting defect on chromosome 15
gptkb:wild-type_ATTR_amyloidosis	none (wild-type, not mutated)
gptkb:Four_Leaf_Clover	gptkb:mutant
gptkb:mandibuloacral_dysplasia	mutation in ZMPSTE24 gene
gptkb:osteopetrosis	mutations in CAII gene
gptkb:congenital_hyperinsulinism	HNF1A gene mutation
gptkb:spondyloepimetaphyseal_dysplasia_Pakistani_type	mutation in PAPSS2 gene
gptkb:osteopetrosis	mutations in SNX10 gene
gptkb:golden_tiger	recessive gene
gptkb:Coats_plus_syndrome_3	mutation in STN1 gene
gptkb:CPVT	RYR2 gene mutation
gptkb:capillary_malformation-arteriovenous_malformation_(CM-AVM)	RASA1 gene mutation
gptkb:Prader-Willi_syndrome	paternal deletion of 15q11-q13
gptkb:CPVT	CASQ2 gene mutation
gptkb:microdeletion_of_chromosome_1q44	deletion of 1q44 region
gptkb:congenital_hyperinsulinism	GLUD1 gene mutation
gptkb:Congenital_Hyperinsulinism	HADH gene mutation
gptkb:capillary_malformation-arteriovenous_malformation_(CM-AVM)	EPHB4 gene mutation
gptkb:Congenital_Hyperinsulinism	GLUD1 gene mutation