hasGeneticCause

63 triples
GPTKB property

Alternative names (1)
geneticCause

Random triples
Subject Object
gptkb:Prader-Willi_syndrome imprinting defect on chromosome 15
gptkb:Immunodeficiency_with_Elevated_IgE gptkb:DOCK8_mutation
gptkb:congenital_hyperinsulinism ABCC8 gene mutation
gptkb:osteopetrosis mutations in OSTM1 gene
gptkb:Charcot-Marie-Tooth_disease_type_4A GDAP1 gene mutation
gptkb:Congenital_Hyperinsulinism ABCC8 gene mutation
gptkb:CPVT RYR2 gene mutation
gptkb:capillary_malformation-arteriovenous_malformation_(CM-AVM) RASA1 gene mutation
gptkb:Schöpf_syndrome mutation in WNT10A gene
gptkb:CPVT CASQ2 gene mutation
gptkb:Charcot_disease_(ALS) SOD1 mutation
gptkb:osteopetrosis mutations in CAII gene
gptkb:mandibuloacral_dysplasia mutation in ZMPSTE24 gene
gptkb:Congenital_Hyperinsulinism HADH gene mutation
gptkb:Prader-Willi_syndrome maternal uniparental disomy of chromosome 15
gptkb:congenital_hyperinsulinism KCNJ11 gene mutation
gptkb:Congenital_Hyperinsulinism GLUD1 gene mutation
gptkb:hereditary_sensory_neuropathy_type_1C SPTLC2 gene mutation
gptkb:Charcot_disease_(ALS) C9orf72 mutation
gptkb:congenital_hyperinsulinism HADH gene mutation

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