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
TBCK
(HGNC:28261)
hypotonia, infantile, with psychomotor retardation and characteristic facies 3
(MONDO_0014823)
 Strong
PHYKPL
(HGNC:28249)
phosphohydroxylysinuria
(MONDO_0014008)
 Limited
HPDL
(HGNC:28242)
neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities
(MONDO_0033613)
 Moderate
CFAP300
(HGNC:28188)
primary ciliary dyskinesia
(MONDO_0016575)
 Strong
CEP19
(HGNC:28209)
Bardet-Biedl syndrome
(MONDO_0015229)
 Limited
CCDC115
(HGNC:28178)
CCDC115-CDG
(MONDO_0014789)
 Strong
TMEM107
(HGNC:28128)
ciliopathy
(MONDO_0005308)
 Limited
NDUFAF2
(HGNC:28086)
mitochondrial complex I deficiency
(MONDO_0100133)
 Moderate
GSDME
(HGNC:2810)
autosomal dominant nonsyndromic hearing loss
(MONDO_0019587)
 Strong
NDUFAF2
(HGNC:28086)
Leigh syndrome
(MONDO_0009723)
 Moderate
LYRM7
(HGNC:28072)
mitochondrial disease
(MONDO_0044970)
 Moderate
WDPCP
(HGNC:28027)
Bardet-Biedl syndrome
(MONDO_0015229)
 Limited
NIPAL4
(HGNC:28018)
congenital non-bullous ichthyosiform erythroderma
(MONDO_0019306)
 Moderate
NIPAL4
(HGNC:28018)
lamellar ichthyosis
(MONDO_0017778)
 Strong
GRHL2
(HGNC:2799)
posterior polymorphous corneal dystrophy
(MONDO_0020364)
 Moderate
STING1
(HGNC:27962)
familial chilblain lupus
(MONDO_0018827)
 Limited
DES
(HGNC:2770)
arrhythmogenic right ventricular cardiomyopathy
(MONDO_0016587)
 Moderate
DES
(HGNC:2770)
myofibrillar myopathy 1
(MONDO_0011076)
 Definitive
DES
(HGNC:2770)
dilated cardiomyopathy
(MONDO_0005021)
 Strong
DES
(HGNC:2770)
atrioventricular block
(MONDO_0000465)
 Limited
Showing 2161–2180 of 6699