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 DJ-1 gene
gptkb:osteopetrosis
mutations in LRP5 gene
gptkb:Neonatal_intrahepatic_cholestasis_caused_by_citrin_deficiency_(NICCD)
mutation in SLC25A13 gene
gptkb:congenital_hyperinsulinism
GLUD1 gene mutation
gptkb:WHIM_syndrome
mutation in CXCR4 gene
gptkb:Charcot_disease_(ALS)
TARDBP mutation
gptkb:golden_tiger
recessive gene
gptkb:microdeletion_of_chromosome_1q44
deletion of 1q44 region
gptkb:congenital_dyserythropoietic_anemia_type_IV
mutation in KLF1 gene
gptkb:Congenital_Hyperinsulinism
HADH gene mutation
gptkb:Charcot_disease_(ALS)
C9orf72 mutation
gptkb:osteopetrosis
mutations in TCIRG1 gene
gptkb:Congenital_Hyperinsulinism
GCK gene mutation
gptkb:acute_neuronopathic_Gaucher_disease
mutation in GBA gene
gptkb:Lennox-Gastaut_Epilepsy
rarely identified
gptkb:Zimmermann-Laband_syndrome_1
KCNH1 gene mutation
gptkb:Four_Leaf_Clover
mutant
gptkb:osteopetrosis
mutations in CLCN7 gene
gptkb:MOTA_syndrome
mutation in FREM1 gene
gptkb:osteopetrosis
mutations in SNX10 gene