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Gene–disease association summaries
Gene–Disease Browser
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| Gene |
Disease |
Score |
Actions |
|
DSG2
(HGNC:3049)
|
arrhythmogenic right ventricular cardiomyopathy
(MONDO_0016587)
|
Definitive
|
|
|
DSC2
(HGNC:3036)
|
arrhythmogenic right ventricular cardiomyopathy
(MONDO_0016587)
|
Strong
|
|
|
ATN1
(HGNC:3033)
|
dentatorubral-pallidoluysian atrophy
(MONDO_0007435)
|
Definitive
|
|
|
SLC52A2
(HGNC:30224)
|
riboflavin transporter deficiency
(MONDO_0008891)
|
Definitive
|
|
|
SLC26A3
(HGNC:3018)
|
congenital secretory chloride diarrhea 1
(MONDO_0008964)
|
Definitive
|
|
|
SLC26A3
(HGNC:3018)
|
Bartter syndrome
(MONDO_0015231)
|
Disputed
|
|
|
POLR3A
(HGNC:30074)
|
leukodystrophy
(MONDO_0019046)
|
Definitive
|
|
|
POLR3A
(HGNC:30074)
|
Wiedemann-Rautenstrauch syndrome
(MONDO_0009910)
|
Strong
|
|
|
BBS9
(HGNC:30000)
|
Bardet-Biedl syndrome
(MONDO_0015229)
|
Strong
|
|
|
DNM2
(HGNC:2974)
|
centronuclear myopathy
(MONDO_0018947)
|
Definitive
|
|
|
DNM2
(HGNC:2974)
|
autosomal dominant centronuclear myopathy
(MONDO_0008048)
|
Definitive
|
|
|
GNPTAB
(HGNC:29670)
|
mucolipidosis type II
(MONDO_0009650)
|
Definitive
|
|
|
DYNC2H1
(HGNC:2962)
|
asphyxiating thoracic dystrophy 3
(MONDO_0013127)
|
Strong
|
|
|
DNAH11
(HGNC:2942)
|
primary ciliary dyskinesia
(MONDO_0016575)
|
Definitive
|
|
|
DNAH5
(HGNC:2950)
|
primary ciliary dyskinesia
(MONDO_0016575)
|
Definitive
|
|
|
SH3TC2
(HGNC:29427)
|
Charcot-Marie-Tooth disease
(MONDO_0015626)
|
Definitive
|
|
|
SH3TC2
(HGNC:29427)
|
Charcot-Marie-Tooth disease type 4C
(MONDO_0011113)
|
Definitive
|
|
|
ASXL3
(HGNC:29357)
|
severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
(MONDO_0014205)
|
Definitive
|
|
|
DMPK
(HGNC:2933)
|
myotonic dystrophy
(MONDO_0016107)
|
Definitive
|
|
|
DMPK
(HGNC:2933)
|
myotonic dystrophy type 1
(MONDO_0008056)
|
Definitive
|
|