|
BEST1
(HGNC:12703)
|
retinitis pigmentosa
(MONDO_0019200)
|
Limited
|
|
|
BEST1
(HGNC:12703)
|
inherited retinal dystrophy
(MONDO_0019118)
|
Strong
|
|
|
BEST1
(HGNC:12703)
|
autosomal recessive bestrophinopathy
(MONDO_0012733)
|
Definitive
|
|
|
BEST1
(HGNC:12703)
|
autosomal dominant vitreoretinochoroidopathy
(MONDO_0008662)
|
Strong
|
|
|
BEST1
(HGNC:12703)
|
adult-onset foveomacular vitelliform dystrophy
(MONDO_0011979)
|
Limited
|
|
|
BEST1
(HGNC:12703)
|
vitelliform macular dystrophy 2
(MONDO_0007931)
|
Strong
|
|
|
VHL
(HGNC:12687)
|
Chuvash polycythemia
(MONDO_0009892)
|
Definitive
|
|
|
VLDLR
(HGNC:12698)
|
cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1
(MONDO_0024542)
|
Strong
|
|
|
BEST1
(HGNC:12703)
|
nanophthalmia
(MONDO_0005514)
|
Limited
|
|
|
VLDLR
(HGNC:12698)
|
cerebellar ataxia, intellectual disability, and dysequilibrium
(MONDO_0009133)
|
Strong
|
|
|
VHL
(HGNC:12687)
|
von Hippel-Lindau disease
(MONDO_0008667)
|
Definitive
|
|
|
VHL
(HGNC:12687)
|
renal cell carcinoma
(MONDO_0005086)
|
Definitive
|
|
|
VHL
(HGNC:12687)
|
pheochromocytoma
(MONDO_0008233)
|
Definitive
|
|
|
VDR
(HGNC:12679)
|
vitamin D-dependent rickets, type 2
(MONDO_0019642)
|
Definitive
|
|
|
VCP
(HGNC:12666)
|
inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1
(MONDO_0008178)
|
Definitive
|
|
|
VCP
(HGNC:12666)
|
neurodevelopmental disorder
(MONDO_0700092)
|
Limited
|
|
|
VCP
(HGNC:12666)
|
amyotrophic lateral sclerosis
(MONDO_0004976)
|
Strong
|
|
|
VCP
(HGNC:12666)
|
inclusion body myopathy with Paget disease of bone and frontotemporal dementia
(MONDO_0000507)
|
Definitive
|
|
|
VCL
(HGNC:12665)
|
hypertrophic cardiomyopathy
(MONDO_0005045)
|
Limited
|
|
|
VCL
(HGNC:12665)
|
dilated cardiomyopathy
(MONDO_0005021)
|
Moderate
|
|