Stats

Total associations
6699
Unique genes
4252
Unique diseases
3300
Gene–disease association summaries
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Gene–Disease Browser

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Gene Disease Score Actions
EMC10
(HGNC:27609)
neurodevelopmental disorder with dysmorphic facies and variable seizures
(MONDO_0031011)
 Strong
TSEN54
(HGNC:27561)
pontocerebellar hypoplasia type 2
(MONDO_0016759)
 Strong
TSEN54
(HGNC:27561)
pontocerebellar hypoplasia type 2A
(MONDO_0010190)
 Strong
DDX3X
(HGNC:2745)
Toriello-Carey syndrome
(MONDO_0009021)
 Limited
RBM20
(HGNC:27424)
hypertrophic cardiomyopathy
(MONDO_0005045)
 Limited
TECRL
(HGNC:27365)
catecholaminergic polymorphic ventricular tachycardia
(MONDO_0017990)
 Moderate
ANO5
(HGNC:27337)
autosomal recessive limb-girdle muscular dystrophy
(MONDO_0015152)
 Strong
ANO5
(HGNC:27337)
autosomal recessive limb-girdle muscular dystrophy type 2L
(MONDO_0012652)
 Strong
ANO5
(HGNC:27337)
gnathodiaphyseal dysplasia
(MONDO_0008151)
 Strong
DDR2
(HGNC:2731)
warburg-cinotti syndrome
(MONDO_0032579)
 Strong
FLCN
(HGNC:27310)
familial spontaneous pneumothorax
(MONDO_0008259)
 Definitive
FLCN
(HGNC:27310)
colorectal cancer
(MONDO_0005575)
 Limited
IBA57
(HGNC:27302)
mitochondrial disease
(MONDO_0044970)
 Strong
IBA57
(HGNC:27302)
multiple mitochondrial dysfunctions syndrome 3
(MONDO_0014132)
 Strong
DDOST
(HGNC:2728)
DDOST-congenital disorder of glycosylation
(MONDO_0013789)
 Moderate
ACSF3
(HGNC:27288)
combined malonic and methylmalonic acidemia
(MONDO_0013661)
 Strong
DDB2
(HGNC:2718)
xeroderma pigmentosum
(MONDO_0019600)
 Strong
DDB2
(HGNC:2718)
xeroderma pigmentosum group E
(MONDO_0010213)
 Moderate
DCTN1
(HGNC:2711)
neuronopathy, distal hereditary motor, type 7B
(MONDO_0011879)
 Moderate
DCTN1
(HGNC:2711)
Perry syndrome
(MONDO_0008201)
 Definitive
Showing 2181–2200 of 6699