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Gene–disease association summaries
Gene–Disease Browser
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| Gene |
Disease |
Score |
Actions |
|
ASTN2
(HGNC:17021)
|
intellectual disability
(MONDO_0001071)
|
Limited
|
|
|
PRICKLE1
(HGNC:17019)
|
Unverricht-Lundborg syndrome
(MONDO_0009698)
|
Refuted
|
|
|
CD81
(HGNC:1701)
|
common variable immunodeficiency
(MONDO_0015517)
|
Limited
|
|
|
PRICKLE1
(HGNC:17019)
|
progressive myoclonus epilepsy
(MONDO_0020074)
|
Limited
|
|
|
PRICKLE1
(HGNC:17019)
|
epilepsy
(MONDO_0005027)
|
Limited
|
|
|
TRIOBP
(HGNC:17009)
|
autosomal recessive nonsyndromic hearing loss 28
(MONDO_0012355)
|
Strong
|
|
|
RRAGA
(HGNC:16963)
|
cataract
(MONDO_0005129)
|
Moderate
|
|
|
ARPP21
(HGNC:16968)
|
amyotrophic lateral sclerosis
(MONDO_0004976)
|
Moderate
|
|
|
ERLIN1
(HGNC:16947)
|
hereditary spastic paraplegia 62
(MONDO_0014302)
|
Moderate
|
|
|
ERLIN1
(HGNC:16947)
|
amyotrophic lateral sclerosis
(MONDO_0004976)
|
Limited
|
|
|
DGAT2
(HGNC:16940)
|
Charcot-Marie-Tooth disease
(MONDO_0015626)
|
Limited
|
|
|
NEBL
(HGNC:16932)
|
dilated cardiomyopathy
(MONDO_0005021)
|
Limited
|
|
|
BCKDK
(HGNC:16902)
|
branched-chain keto acid dehydrogenase kinase deficiency
(MONDO_0013970)
|
Strong
|
|
|
CD59
(HGNC:1689)
|
primary CD59 deficiency
(MONDO_0012858)
|
Strong
|
|
|
RAPGEF2
(HGNC:16854)
|
amyotrophic lateral sclerosis
(MONDO_0004976)
|
Limited
|
|
|
FIG4
(HGNC:16873)
|
Yunis-Varon syndrome
(MONDO_0008995)
|
Strong
|
|
|
FIG4
(HGNC:16873)
|
Charcot-Marie-Tooth disease
(MONDO_0015626)
|
Strong
|
|
|
LITAF
(HGNC:16841)
|
Charcot-Marie-Tooth disease type 1C
(MONDO_0010995)
|
Strong
|
|
|
CDC73
(HGNC:16783)
|
parathyroid gland carcinoma
(MONDO_0012004)
|
Definitive
|
|
|
CDC73
(HGNC:16783)
|
familial isolated hyperparathyroidism
(MONDO_0015027)
|
Strong
|
|