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Gene–disease association summaries
Gene–Disease Browser
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| Gene |
Disease |
Score |
Actions |
|
MLC1
(HGNC:17082)
|
megalencephalic leukoencephalopathy with subcortical cysts
(MONDO_0011391)
|
Definitive
|
|
|
CFHR3
(HGNC:16980)
|
atypical hemolytic-uremic syndrome
(MONDO_0016244)
|
Moderate
|
|
|
HAX1
(HGNC:16915)
|
severe congenital neutropenia
(MONDO_0018542)
|
Definitive
|
|
|
CD79B
(HGNC:1699)
|
diffuse large B-cell lymphoma
(MONDO_0018905)
|
Strong
|
|
|
SRCAP
(HGNC:16974)
|
Floating-Harbor syndrome
(MONDO_0007621)
|
Definitive
|
|
|
HAX1
(HGNC:16915)
|
Kostmann syndrome
(MONDO_0012548)
|
Definitive
|
|
|
HCN4
(HGNC:16882)
|
sinoatrial node disorder
(MONDO_0000469)
|
Moderate
|
|
|
UBR1
(HGNC:16808)
|
Johanson-Blizzard syndrome
(MONDO_0009479)
|
Definitive
|
|
|
RAB39B
(HGNC:16499)
|
Parkinson disease
(MONDO_0005180)
|
Strong
|
|
|
SLC45A2
(HGNC:16472)
|
oculocutaneous albinism
(MONDO_0018910)
|
Definitive
|
|
|
IFITM5
(HGNC:16644)
|
osteogenesis imperfecta
(MONDO_0019019)
|
Definitive
|
|
|
TMPRSS6
(HGNC:16517)
|
IRIDA syndrome
(MONDO_0008788)
|
Definitive
|
|
|
SUFU
(HGNC:16466)
|
nevoid basal cell carcinoma syndrome
(MONDO_0007187)
|
Strong
|
|
|
CARD9
(HGNC:16391)
|
predisposition to invasive fungal disease due to CARD9 deficiency
(MONDO_0008905)
|
Definitive
|
|
|
CARD9
(HGNC:16391)
|
deep seated dermatophytosis
(MONDO_0021660)
|
Strong
|
|
|
CARD14
(HGNC:16446)
|
pityriasis rubra pilaris
(MONDO_0100017)
|
Strong
|
|
|
CARD9
(HGNC:16391)
|
phaeohyphomycosis
(MONDO_0001867)
|
Strong
|
|
|
PARK7
(HGNC:16369)
|
Parkinson disease
(MONDO_0005180)
|
Strong
|
|
|
TRIM32
(HGNC:16380)
|
autosomal recessive limb-girdle muscular dystrophy type 2H
(MONDO_0009683)
|
Definitive
|
|
|
PNPLA6
(HGNC:16268)
|
ataxia-hypogonadism-choroidal dystrophy syndrome
(MONDO_0008980)
|
Strong
|
|