hasGeneticCause

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

63 triples

GPTKB property

geneticCause

Subject	Object
gptkb:Prader-Willi_syndrome	imprinting defect on chromosome 15
gptkb:Four_Leaf_Clover	gptkb:mutant
gptkb:Prader-Willi_syndrome	paternal deletion of 15q11-q13
gptkb:Schöpf_syndrome	mutation in WNT10A gene
gptkb:Charcot_disease_(ALS)	TARDBP mutation
gptkb:congenital_dyserythropoietic_anemia_type_IV	mutation in KLF1 gene
gptkb:Parkinson_Disease,_Juvenile	mutation in DJ-1 gene
gptkb:Congenital_Hyperinsulinism	ABCC8 gene mutation
gptkb:congenital_hyperinsulinism	HADH gene mutation
gptkb:Marfanoid–progeroid–lipodystrophy_syndrome	FBN1 gene mutation
gptkb:acute_neuronopathic_Gaucher_disease	mutation in GBA gene
gptkb:spondyloepimetaphyseal_dysplasia_Pakistani_type	mutation in PAPSS2 gene
gptkb:Charcot-Marie-Tooth_disease_type_4A	GDAP1 gene mutation
gptkb:osteopetrosis	mutations in CAII gene
gptkb:Müllerian_aplasia	gptkb:unknown
gptkb:Congenital_Hyperinsulinism	KCNJ11 gene mutation
gptkb:Immunodeficiency_with_Elevated_IgE	gptkb:STAT3_mutation
gptkb:congenital_hyperinsulinism	ABCC8 gene mutation
gptkb:Congenital_Hyperinsulinism	GCK gene mutation
gptkb:Coats_plus_syndrome_3	mutation in STN1 gene