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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
AMACR
(HGNC:451)
alpha-methylacyl-CoA racemase deficiency
(MONDO_0013681)
 Strong
KISS1R
(HGNC:4510)
hypogonadotropic hypogonadism
(MONDO_0018555)
 Definitive
ALX4
(HGNC:450)
parietal foramina 2
(MONDO_0012309)
 Moderate
GABBR2
(HGNC:4507)
neurodevelopmental disorder with poor language and loss of hand skills
(MONDO_0060659)
 Strong
ALX3
(HGNC:449)
frontorhiny
(MONDO_0007636)
 Strong
GRIK2
(HGNC:4580)
autosomal recessive non-syndromic intellectual disability
(MONDO_0019502)
 Limited
GRID2
(HGNC:4576)
autosomal recessive spinocerebellar ataxia 18
(MONDO_0014530)
 Moderate
GRHPR
(HGNC:4570)
primary hyperoxaluria type 2
(MONDO_0009824)
 Definitive
GPR68
(HGNC:4519)
amelogenesis imperfecta type 2
(MONDO_0015048)
 Moderate
ADGRG1
(HGNC:4512)
bilateral frontoparietal polymicrogyria
(MONDO_0011738)
 Definitive
SETX
(HGNC:445)
distal hereditary motor neuropathy
(MONDO_0018894)
 Limited
SETX
(HGNC:445)
amyotrophic lateral sclerosis type 4
(MONDO_0011223)
 Definitive
GPAA1
(HGNC:4446)
glycosylphosphatidylinositol biosynthesis defect 15
(MONDO_0060627)
 Strong
GPC4
(HGNC:4452)
Keipert syndrome
(MONDO_0009720)
 Strong
GPC6
(HGNC:4454)
autosomal recessive omodysplasia
(MONDO_0009779)
 Moderate
ALS2
(HGNC:443)
juvenile amyotrophic lateral sclerosis
(MONDO_0017593)
 Definitive
GP1BB
(HGNC:4440)
Bernard-Soulier syndrome
(MONDO_0009276)
 Definitive
ALS2
(HGNC:443)
infantile-onset ascending hereditary spastic paralysis
(MONDO_0011797)
 Definitive
ALS2
(HGNC:443)
juvenile primary lateral sclerosis
(MONDO_0011663)
 Strong
ALS2
(HGNC:443)
amyotrophic lateral sclerosis type 2, juvenile
(MONDO_0008780)
 Strong
Showing 1401–1420 of 6681