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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
OTC
(HGNC:8512)
urea cycle disorder
(MONDO_0004739)
 Definitive
ATP2A2
(HGNC:812)
acrokeratosis verruciformis
(MONDO_0007048)
 Moderate
ATP2A2
(HGNC:812)
Darier disease
(MONDO_0007417)
 Definitive
OCRL
(HGNC:8108)
Dent disease
(MONDO_0015612)
 Strong
OAT
(HGNC:8091)
ornithine aminotransferase deficiency
(MONDO_0009796)
 Definitive
OCRL
(HGNC:8108)
oculocerebrorenal syndrome
(MONDO_0010645)
 Definitive
NUP98
(HGNC:8068)
acute myeloid leukemia
(MONDO_0018874)
 Strong
FRMD7
(HGNC:8079)
congenital nystagmus
(MONDO_0005712)
 Definitive
ATP1A1
(HGNC:799)
Charcot-Marie-Tooth disease
(MONDO_0015626)
 Strong
ATP1A1
(HGNC:799)
primary aldosteronism
(MONDO_0001422)
 Definitive
NR3C2
(HGNC:7979)
pseudohypoaldosteronism type 1
(MONDO_0019161)
 Definitive
NPHS1
(HGNC:7908)
nephrotic syndrome
(MONDO_0005377)
 Definitive
NR2F1
(HGNC:7975)
Bosch-Boonstra-Schaaf optic atrophy syndrome
(MONDO_0014320)
 Definitive
NR2E3
(HGNC:7974)
enhanced S-cone syndrome
(MONDO_0100288)
 Definitive
NPHS1
(HGNC:7908)
focal segmental glomerulosclerosis
(MONDO_0100313)
 Moderate
NPR2
(HGNC:7944)
acromesomelic dysplasia 1, Maroteaux type
(MONDO_0011275)
 Definitive
NPHP3
(HGNC:7907)
nephronophthisis
(MONDO_0019005)
 Definitive
NPHS1
(HGNC:7908)
familial nephrotic syndrome
(MONDO_0002350)
 Definitive
NNT
(HGNC:7863)
familial glucocorticoid deficiency
(MONDO_0008733)
 Definitive
NPHP1
(HGNC:7905)
nephronophthisis
(MONDO_0019005)
 Definitive
Showing 4441–4460 of 6681