hasGeneticCause

URI: https://gptkb.org/prop/hasGeneticCause
63 triples
GPTKB property
Alternative names (1)
geneticCause
Random triples
Subject Object
gptkb:mandibuloacral_dysplasia mutation in LMNA gene
gptkb:Charcot_disease_(ALS) SOD1 mutation
gptkb:Congenital_Hyperinsulinism ABCC8 gene mutation
gptkb:congenital_generalized_lipodystrophy_type_4 CAVIN1 gene mutation
gptkb:Prader-Willi_syndrome paternal deletion of 15q11-q13
gptkb:congenital_hyperinsulinism GCK gene mutation
gptkb:Neonatal_intrahepatic_cholestasis_caused_by_citrin_deficiency_(NICCD) mutation in SLC25A13 gene
gptkb:mandibuloacral_dysplasia mutation in ZMPSTE24 gene
gptkb:CPVT CASQ2 gene mutation
gptkb:congenital_hyperinsulinism GLUD1 gene mutation
gptkb:Immunodeficiency_with_Elevated_IgE gptkb:STAT3_mutation
gptkb:osteopetrosis mutations in OSTM1 gene
gptkb:Schöpf_syndrome mutation in WNT10A gene
gptkb:Charcot_disease_(ALS) C9orf72 mutation
gptkb:capillary_malformation-arteriovenous_malformation_(CM-AVM) RASA1 gene mutation
gptkb:MonoMAC_syndrome GATA2 mutation
gptkb:OPMD mutation in PABPN1 gene
gptkb:Prader-Willi_syndrome imprinting defect on chromosome 15
gptkb:hereditary_sensory_neuropathy_type_1C SPTLC2 gene mutation
gptkb:Müllerian_aplasia gptkb:unknown