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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
GPR161
(HGNC:23694)
pituitary stalk interruption syndrome
(MONDO_0019828)
 Limited
GNE
(HGNC:23657)
sialuria
(MONDO_0010028)
 Strong
CRLF1
(HGNC:2364)
cold-induced sweating syndrome
(MONDO_0015526)
 Strong
CRLF1
(HGNC:2364)
Cold-induced sweating syndrome 1
(MONDO_0010091)
 Definitive
CRKL
(HGNC:2363)
congenital heart disease
(MONDO_0005453)
 Limited
SKIC3
(HGNC:23639)
trichohepatoenteric syndrome
(MONDO_0009105)
 Definitive
VPS13C
(HGNC:23594)
young-onset Parkinson disease
(MONDO_0017279)
 Moderate
VPS13D
(HGNC:23595)
autosomal recessive cerebellar ataxia-saccadic intrusion syndrome
(MONDO_0011811)
 Strong
VPS13D
(HGNC:23595)
Leigh syndrome
(MONDO_0009723)
 Limited
ANKRD17
(HGNC:23575)
Chopra-Amiel-Gordon syndrome
(MONDO_0859186)
 Strong
MORC2
(HGNC:23573)
Leigh syndrome
(MONDO_0009723)
 Limited
DHTKD1
(HGNC:23537)
2-aminoadipic 2-oxoadipic aciduria
(MONDO_0008774)
 Strong
CRH
(HGNC:2355)
autosomal dominant nocturnal frontal lobe epilepsy
(MONDO_0020300)
 Limited
CREBBP
(HGNC:2348)
Rubinstein-Taybi syndrome
(MONDO_0019188)
 Definitive
CREBBP
(HGNC:2348)
Rubinstein-Taybi syndrome due to CREBBP mutations
(MONDO_0008393)
 Definitive
DOCK11
(HGNC:23483)
autoinflammatory disease, multisystem, with immune dysregulation, X-linked
(MONDO_0957494)
 Moderate
CRB1
(HGNC:2343)
retinitis pigmentosa
(MONDO_0019200)
 Definitive
CRB1
(HGNC:2343)
Leber congenital amaurosis
(MONDO_0018998)
 Definitive
CRB1
(HGNC:2343)
pigmented paravenous retinochoroidal atrophy
(MONDO_0008246)
 Limited
CRB1
(HGNC:2343)
Leber congenital amaurosis 8
(MONDO_0013453)
 Definitive
Showing 2481–2500 of 6681