|
gptkb:copper_metabolism_disorder
|
yes
|
|
gptkb:familial_progressive_hyperpigmentation
|
unknown
|
|
gptkb:ORPHA:58
|
CFTR gene mutation
|
|
gptkb:SERKAL_syndrome
|
homozygous loss-of-function mutation in WNT4
|
|
gptkb:hereditary_papillary_renal_carcinoma
|
MET gene mutation
|
|
gptkb:Branchio-otic_syndrome
|
SIX1 gene mutation
|
|
gptkb:Familial_thoracic_aortic_aneurysm
|
autosomal dominant inheritance
|
|
gptkb:chronic_neuronopathic_Gaucher_disease
|
mutation in GBA gene
|
|
gptkb:Branchio-otic_syndrome
|
SIX5 gene mutation
|
|
gptkb:Redheads
|
MC1R gene variant
|
|
gptkb:Branchio-otic_syndrome
|
EYA1 gene mutation
|
|
gptkb:Autosomal_dominant_hypocalcemia_type_2
|
GNA11 gene mutation
|