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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
DSPP
(HGNC:3054)
dentinogenesis imperfecta
(MONDO_0018849)
 Definitive
SLC46A1
(HGNC:30521)
hereditary folate malabsorption
(MONDO_0009238)
 Definitive
DSG2
(HGNC:3049)
arrhythmogenic right ventricular cardiomyopathy
(MONDO_0016587)
 Definitive
DSC2
(HGNC:3036)
arrhythmogenic right ventricular cardiomyopathy
(MONDO_0016587)
 Definitive
ATN1
(HGNC:3033)
dentatorubral-pallidoluysian atrophy
(MONDO_0007435)
 Definitive
SLC52A2
(HGNC:30224)
riboflavin transporter deficiency
(MONDO_0008891)
 Strong
SLC26A3
(HGNC:3018)
congenital secretory chloride diarrhea 1
(MONDO_0008964)
 Definitive
SLC26A3
(HGNC:3018)
Bartter syndrome
(MONDO_0015231)
 Refuted
POLR3A
(HGNC:30074)
leukodystrophy
(MONDO_0019046)
 Definitive
POLR3A
(HGNC:30074)
Wiedemann-Rautenstrauch syndrome
(MONDO_0009910)
 Strong
BBS9
(HGNC:30000)
Bardet-Biedl syndrome
(MONDO_0015229)
 Definitive
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
Showing 4741–4760 of 6681