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
CCDC141
(HGNC:26821)
Kallmann syndrome
(MONDO_0018800)
 Limited
CCDC141
(HGNC:26821)
hypogonadotropic hypogonadism
(MONDO_0018555)
 Moderate
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)
 Moderate
DARS1
(HGNC:2678)
hypomyelination with brain stem and spinal cord involvement and leg spasticity
(MONDO_0014115)
 Limited
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)
 Moderate
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
RNF168
(HGNC:26661)
RIDDLE syndrome
(MONDO_0012764)
 Moderate
LOXHD1
(HGNC:26521)
autosomal recessive nonsyndromic hearing loss 77
(MONDO_0013119)
 Strong
Showing 2221–2240 of 6699