Stats

Total associations
6699
Unique genes
4252
Unique diseases
3300
Gene–disease association summaries
Back to Open Access Summaries

Gene–Disease Browser

Need updated, customized, evidence‑backed summaries? Get it from the leaders in AI‑powered, evidence‑backed summaries provider.
Contact us
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
Showing 2761–2780 of 6699