hasGeneticCause

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

63 triples

GPTKB property

geneticCause

Subject	Object
gptkb:Schöpf_syndrome	mutation in WNT10A gene
gptkb:congenital_hyperinsulinism	HNF1A gene mutation
gptkb:familial_partial_lipodystrophy_type_4	PLIN1 gene mutation
gptkb:Marfanoid–progeroid–lipodystrophy_syndrome	FBN1 gene mutation
gptkb:osteopetrosis	mutations in SNX10 gene
gptkb:hereditary_sensory_neuropathy_type_1C	SPTLC2 gene mutation
gptkb:Charcot_disease_(ALS)	SOD1 mutation
gptkb:WHIM_syndrome	mutation in CXCR4 gene
gptkb:congenital_generalized_lipodystrophy_type_4	CAVIN1 gene mutation
gptkb:Coats_plus_syndrome_3	mutation in STN1 gene
gptkb:osteopetrosis	mutations in CAII gene
gptkb:OPMD	mutation in PABPN1 gene
gptkb:Congenital_Hyperinsulinism	KCNJ11 gene mutation
gptkb:congenital_hyperinsulinism	HNF4A gene mutation
gptkb:MOTA_syndrome	mutation in FREM1 gene
gptkb:Congenital_Hyperinsulinism	GCK gene mutation
gptkb:congenital_dyserythropoietic_anemia_type_IV	mutation in KLF1 gene
gptkb:congenital_hyperinsulinism	ABCC8 gene mutation
gptkb:osteopetrosis	mutations in TCIRG1 gene
gptkb:spondyloepimetaphyseal_dysplasia_Pakistani_type	mutation in PAPSS2 gene