Stats

Total associations
6699
Unique genes
4252
Unique diseases
3300
Gene–disease association summaries
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Gene–Disease Browser

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Gene Disease Score Actions
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
Showing 3661–3680 of 6699