GPTKB
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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