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Over 2,000 gene–disease validation summaries are now available—no login required!

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Stats

Total associations
6681
Unique genes
4239
Unique diseases
3297
Gene–disease association summaries
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Gene–Disease Browser

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Gene Disease Score Actions
DBH
(HGNC:2689)
orthostatic hypotension 1
(MONDO_0009123)
 Strong
TMTC3
(HGNC:26899)
periventricular nodular heterotopia
(MONDO_0020341)
 Moderate
CCDC141
(HGNC:26821)
Kallmann syndrome
(MONDO_0018800)
 Limited
CCDC141
(HGNC:26821)
hypogonadotropic hypogonadism
(MONDO_0018555)
 Limited
CYP4F22
(HGNC:26820)
lamellar ichthyosis
(MONDO_0017778)
 Moderate
RILPL1
(HGNC:26814)
oculopharyngodistal myopathy 4
(MONDO_0030712)
 Limited
WDR72
(HGNC:26790)
amelogenesis imperfecta
(MONDO_0019507)
 Strong
WDR72
(HGNC:26790)
renal tubular acidosis
(MONDO_0001909)
 Limited
DARS1
(HGNC:2678)
hypomyelination with brain stem and spinal cord involvement and leg spasticity
(MONDO_0014115)
 Moderate
MTRFR
(HGNC:26784)
combined oxidative phosphorylation defect type 7
(MONDO_0013306)
 Moderate
MTRFR
(HGNC:26784)
Leigh syndrome
(MONDO_0009723)
 Moderate
CD55
(HGNC:2665)
protein-losing enteropathy
(MONDO_0009174)
 Strong
CFAP47
(HGNC:26708)
polycystic kidney disease
(MONDO_0020642)
 Limited
CEP120
(HGNC:26690)
Joubert syndrome
(MONDO_0018772)
 Moderate
CEP120
(HGNC:26690)
Jeune syndrome
(MONDO_0018770)
 Moderate
DAB1
(HGNC:2661)
spinocerebellar ataxia type 37
(MONDO_0014410)
 Strong
CEP120
(HGNC:26690)
ciliopathy
(MONDO_0005308)
 Moderate
BBS12
(HGNC:26648)
Bardet-Biedl syndrome
(MONDO_0015229)
 Definitive
CFAP43
(HGNC:26684)
normal pressure hydrocephalus
(MONDO_0009366)
 Limited
CFAP43
(HGNC:26684)
primary ciliary dyskinesia
(MONDO_0016575)
 Limited
Showing 2201–2220 of 6681