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Gene–disease association summaries
Gene–Disease Browser
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| Gene |
Disease |
Score |
Actions |
|
WDFY3
(HGNC:20751)
|
autism spectrum disorder
(MONDO_0005258)
|
Limited
|
|
|
TWIST2
(HGNC:20670)
|
ablepharon macrostomia syndrome
(MONDO_0008693)
|
Strong
|
|
|
SLC25A24
(HGNC:20662)
|
Fontaine progeroid syndrome
(MONDO_0012853)
|
Strong
|
|
|
PHF8
(HGNC:20672)
|
syndromic X-linked intellectual disability Siderius type
(MONDO_0010286)
|
Strong
|
|
|
SLC25A26
(HGNC:20661)
|
combined oxidative phosphorylation deficiency 28
(MONDO_0014775)
|
Limited
|
|
|
CHD7
(HGNC:20626)
|
CHARGE syndrome
(MONDO_0008965)
|
Definitive
|
|
|
MICAL1
(HGNC:20619)
|
epilepsy
(MONDO_0005027)
|
Limited
|
|
|
SLC24A5
(HGNC:20611)
|
oculocutaneous albinism type 6
(MONDO_0018264)
|
Moderate
|
|
|
AIMP2
(HGNC:20609)
|
leukodystrophy, hypomyelinating, 17
(MONDO_0054817)
|
Limited
|
|
|
DHDDS
(HGNC:20603)
|
retinitis pigmentosa
(MONDO_0019200)
|
Strong
|
|
|
DHDDS
(HGNC:20603)
|
developmental delay and seizures with or without movement abnormalities
(MONDO_0044326)
|
Strong
|
|
|
UFM1
(HGNC:20597)
|
hypomyelinating leukodystrophy 6
(MONDO_0012905)
|
Strong
|
|
|
CYP2U1
(HGNC:20582)
|
hereditary spastic paraplegia
(MONDO_0019064)
|
Strong
|
|
|
CYP2U1
(HGNC:20582)
|
hereditary spastic paraplegia 56
(MONDO_0014015)
|
Strong
|
|
|
CYP26C1
(HGNC:20577)
|
focal facial dermal dysplasia type IV
(MONDO_0013997)
|
Moderate
|
|
|
SV2A
(HGNC:20566)
|
epilepsy
(MONDO_0005027)
|
Limited
|
|
|
COA8
(HGNC:20492)
|
mitochondrial disease
(MONDO_0044970)
|
Strong
|
|
|
TMC8
(HGNC:20474)
|
epidermodysplasia verruciformis
(MONDO_0009176)
|
Strong
|
|
|
BRIP1
(HGNC:20473)
|
Fanconi anemia
(MONDO_0019391)
|
Strong
|
|
|
BRIP1
(HGNC:20473)
|
hereditary breast carcinoma
(MONDO_0016419)
|
Limited
|
|