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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
TMCO1
(HGNC:18188)
craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1
(MONDO_0800436)
 Definitive
GIPC3
(HGNC:18183)
autosomal recessive nonsyndromic hearing loss 15
(MONDO_0011160)
 Moderate
VPS33A
(HGNC:18179)
mucopolysaccharidosis-plus syndrome
(MONDO_0015012)
 Strong
FKBP10
(HGNC:18169)
arthrogryposis-like syndrome
(MONDO_0015241)
 Strong
FKBP10
(HGNC:18169)
Bruck syndrome 1
(MONDO_0009806)
 Strong
FKBP10
(HGNC:18169)
osteogenesis imperfecta type 11
(MONDO_0012592)
 Strong
FKBP10
(HGNC:18169)
osteogenesis imperfecta type 3
(MONDO_0009804)
 Strong
TXNRD2
(HGNC:18155)
dilated cardiomyopathy
(MONDO_0005021)
 Moderate
PHF6
(HGNC:18145)
Borjeson-Forssman-Lehmann syndrome
(MONDO_0010537)
 Definitive
DCDC2
(HGNC:18141)
ciliopathy
(MONDO_0005308)
 Strong
AFG2A
(HGNC:18119)
microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
(MONDO_0014698)
 Strong
SOX17
(HGNC:18122)
pulmonary arterial hypertension
(MONDO_0015924)
 Definitive
MFRP
(HGNC:18121)
nanophthalmia
(MONDO_0005514)
 Definitive
TRPV4
(HGNC:18083)
neuromuscular disease
(MONDO_0019056)
 Strong
TRPV4
(HGNC:18083)
familial digital arthropathy-brachydactyly
(MONDO_0011732)
 Strong
TRPV4
(HGNC:18083)
neuronopathy, distal hereditary motor, autosomal dominant 8
(MONDO_0010839)
 Limited
TRPV4
(HGNC:18083)
spondylometaphyseal dysplasia, Kozlowski type
(MONDO_0008477)
 Definitive
TRPV4
(HGNC:18083)
scapuloperoneal spinal muscular atrophy, autosomal dominant
(MONDO_0008408)
 Strong
TRPV4
(HGNC:18083)
parastremmatic dwarfism
(MONDO_0008196)
 Moderate
TRPV4
(HGNC:18083)
metatropic dysplasia
(MONDO_0007986)
 Definitive
Showing 3001–3020 of 6681