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Gene–disease association summaries
Gene–Disease Browser
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| Gene |
Disease |
Score |
Actions |
|
ATP2A2
(HGNC:812)
|
Darier disease
(MONDO_0007417)
|
Definitive
|
|
|
OCRL
(HGNC:8108)
|
Dent disease
(MONDO_0015612)
|
Definitive
|
|
|
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)
|
Strong
|
|
|
ATP1A1
(HGNC:799)
|
Charcot-Marie-Tooth disease
(MONDO_0015626)
|
Strong
|
|
|
ATP1A1
(HGNC:799)
|
primary aldosteronism
(MONDO_0001422)
|
Strong
|
|
|
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)
|
Strong
|
|
|
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)
|
Strong
|
|
|
NPHS1
(HGNC:7908)
|
familial nephrotic syndrome
(MONDO_0002350)
|
Definitive
|
|
|
NNT
(HGNC:7863)
|
familial glucocorticoid deficiency
(MONDO_0008733)
|
Strong
|
|
|
NPHP1
(HGNC:7905)
|
nephronophthisis
(MONDO_0019005)
|
Definitive
|
|
|
NPC1
(HGNC:7897)
|
Niemann-Pick disease type C
(MONDO_0018982)
|
Definitive
|
|
|
NHS
(HGNC:7820)
|
Nance-Horan syndrome
(MONDO_0010545)
|
Definitive
|
|