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Over 2,000 gene–disease validation summaries are now available—no login required!

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Stats

Total associations
6681
Unique genes
4239
Unique diseases
3297
Gene–disease association summaries
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Gene–Disease Browser

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Gene Disease Score Actions
SLC9A9
(HGNC:20653)
autism spectrum disorder
(MONDO_0005258)
 Limited
CLN3
(HGNC:2074)
inherited retinal dystrophy
(MONDO_0019118)
 Strong
WDFY3
(HGNC:20751)
autism spectrum disorder
(MONDO_0005258)
 Moderate
TWIST2
(HGNC:20670)
ablepharon macrostomia syndrome
(MONDO_0008693)
 Definitive
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)
 Strong
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)
 Strong
SV2A
(HGNC:20566)
epilepsy
(MONDO_0005027)
 Moderate
COA8
(HGNC:20492)
mitochondrial disease
(MONDO_0044970)
 Strong
TMC8
(HGNC:20474)
epidermodysplasia verruciformis
(MONDO_0009176)
 Definitive
Showing 2741–2760 of 6681