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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
POMT2
(HGNC:19743)
muscle-eye-brain disease
(MONDO_0018939)
 Strong
POMT2
(HGNC:19743)
autosomal recessive limb-girdle muscular dystrophy type 2N
(MONDO_0013162)
 Strong
TNS2
(HGNC:19737)
nephrotic syndrome
(MONDO_0005377)
 Moderate
CANT1
(HGNC:19721)
Desbuquois dysplasia 1
(MONDO_0009629)
 Strong
CHST3
(HGNC:1971)
spondyloepiphyseal dysplasia with congenital joint dislocations
(MONDO_0007738)
 Definitive
DDHD1
(HGNC:19714)
hereditary spastic paraplegia
(MONDO_0019064)
 Moderate
DDHD1
(HGNC:19714)
hereditary spastic paraplegia 28
(MONDO_0012256)
 Moderate
ADAMTSL4
(HGNC:19706)
ectopia lentis et pupillae
(MONDO_0009153)
 Strong
DISP1
(HGNC:19711)
holoprosencephaly
(MONDO_0016296)
 Moderate
ADAMTSL4
(HGNC:19706)
isolated ectopia lentis
(MONDO_0015998)
 Strong
COQ4
(HGNC:19693)
mitochondrial disease
(MONDO_0044970)
 Definitive
KCNV2
(HGNC:19698)
cone dystrophy with supernormal rod response
(MONDO_0012475)
 Definitive
CNKSR2
(HGNC:19701)
intellectual disability, X-linked, syndromic, Houge type
(MONDO_0030909)
 Strong
CHRNA2
(HGNC:1956)
sleep-related hypermotor epilepsy
(MONDO_0000030)
 Moderate
MECR
(HGNC:19691)
dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities
(MONDO_0015003)
 Moderate
LYST
(HGNC:1968)
Chediak-Higashi syndrome
(MONDO_0008963)
 Definitive
NECTIN4
(HGNC:19688)
ectodermal dysplasia-syndactyly syndrome 1
(MONDO_0024565)
 Definitive
NECTIN4
(HGNC:19688)
ectodermal dysplasia-syndactyly syndrome
(MONDO_0013311)
 Definitive
EIF2AK4
(HGNC:19687)
heritable pulmonary arterial hypertension
(MONDO_0017148)
 Limited
EIF2AK4
(HGNC:19687)
pulmonary venoocclusive disease
(MONDO_0009937)
 Definitive
Showing 2821–2840 of 6681