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:Parkinson_Disease,_Juvenile
mutation in PARK2 gene
gptkb:mandibuloacral_dysplasia
mutation in LMNA gene
gptkb:Coats_plus_syndrome_3
mutation in STN1 gene
gptkb:CPVT
RYR2 gene mutation
gptkb:Congenital_Hyperinsulinism
ABCC8 gene mutation
gptkb:congenital_generalized_lipodystrophy_type_4
CAVIN1 gene mutation
gptkb:osteopetrosis
mutations in CAII gene
gptkb:Four_Leaf_Clover
mutant
gptkb:Congenital_Hyperinsulinism
KCNJ11 gene mutation
gptkb:osteopetrosis
mutations in LRP5 gene
gptkb:Parkinson_Disease,_Juvenile
mutation in PINK1 gene
gptkb:congenital_hyperinsulinism
ABCC8 gene mutation
gptkb:congenital_hyperinsulinism
HNF4A gene mutation
gptkb:Congenital_Hyperinsulinism
GCK gene mutation
gptkb:Charcot-Marie-Tooth_disease_type_4A
GDAP1 gene mutation
gptkb:Unverricht-Lundborg_Epilepsy
mutation in CSTB gene
gptkb:congenital_hyperinsulinism
GCK gene mutation
gptkb:Hereditary_Hemorrhagic_Telangiectasia_type_4
mutation in GDF2 gene
gptkb:capillary_malformation-arteriovenous_malformation_(CM-AVM)
EPHB4 gene mutation
gptkb:WHIM_syndrome
mutation in CXCR4 gene