Stats
Gene–disease association summaries
Gene–Disease Browser
Need updated, customized, evidence‑backed summaries?
Get it from the leaders in AI‑powered, evidence‑backed summaries provider.
| Gene |
Disease |
Score |
Actions |
|
DOLK
(HGNC:23406)
|
DK1-congenital disorder of glycosylation
(MONDO_0012556)
|
Moderate
|
|
|
LRMDA
(HGNC:23405)
|
oculocutaneous albinism type 7
(MONDO_0014070)
|
Moderate
|
|
|
FREM1
(HGNC:23399)
|
BNAR syndrome
(MONDO_0012165)
|
Moderate
|
|
|
FREM1
(HGNC:23399)
|
oculotrichoanal syndrome
(MONDO_0009560)
|
Moderate
|
|
|
CR2
(HGNC:2336)
|
common variable immunodeficiency
(MONDO_0015517)
|
Limited
|
|
|
CR2
(HGNC:2336)
|
systemic lupus erythematosus
(MONDO_0007915)
|
Limited
|
|
|
PXK
(HGNC:23326)
|
systemic lupus erythematosus
(MONDO_0007915)
|
Moderate
|
|
|
A2ML1
(HGNC:23336)
|
Noonan syndrome
(MONDO_0018997)
|
Disputed
|
|
|
HKDC1
(HGNC:23302)
|
retinitis pigmentosa
(MONDO_0019200)
|
Limited
|
|
|
ETHE1
(HGNC:23287)
|
Leigh syndrome
(MONDO_0009723)
|
Limited
|
|
|
MYPN
(HGNC:23246)
|
cap myopathy
(MONDO_0015753)
|
Limited
|
|
|
MYPN
(HGNC:23246)
|
hypertrophic cardiomyopathy
(MONDO_0005045)
|
Limited
|
|
|
UBA5
(HGNC:23230)
|
developmental and epileptic encephalopathy, 44
(MONDO_0014933)
|
Strong
|
|
|
MYPN
(HGNC:23246)
|
dilated cardiomyopathy
(MONDO_0005021)
|
Moderate
|
|
|
SPATA13
(HGNC:23222)
|
primary angle-closure glaucoma
(MONDO_0001868)
|
Moderate
|
|
|
CPOX
(HGNC:2321)
|
harderoporphyria
(MONDO_0030048)
|
Strong
|
|
|
PIGO
(HGNC:23215)
|
hyperphosphatasia-intellectual disability syndrome
(MONDO_0016596)
|
Strong
|
|
|
PIGW
(HGNC:23213)
|
hyperphosphatasia with intellectual disability syndrome 5
(MONDO_0014457)
|
Strong
|
|
|
FANCM
(HGNC:23168)
|
Fanconi anemia
(MONDO_0019391)
|
Disputed
|
|
|
FANCM
(HGNC:23168)
|
breast cancer
(MONDO_0007254)
|
Strong
|
|