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Gene–disease association summaries
Gene–Disease Browser
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| Gene |
Disease |
Score |
Actions |
|
CTNS
(HGNC:2518)
|
cystinosis
(MONDO_0016239)
|
Definitive
|
|
|
GPIHBP1
(HGNC:24945)
|
familial lipoprotein lipase deficiency
(MONDO_0009387)
|
Strong
|
|
|
G6PC3
(HGNC:24861)
|
autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
(MONDO_0012930)
|
Definitive
|
|
|
CSTB
(HGNC:2482)
|
Unverricht-Lundborg syndrome
(MONDO_0009698)
|
Definitive
|
|
|
FLVCR1
(HGNC:24682)
|
posterior column ataxia-retinitis pigmentosa syndrome
(MONDO_0012177)
|
Strong
|
|
|
EHMT1
(HGNC:24650)
|
Kleefstra syndrome
(MONDO_0012455)
|
Definitive
|
|
|
VCAN
(HGNC:2464)
|
Wagner disease
(MONDO_0007740)
|
Definitive
|
|
|
CSNK2A1
(HGNC:2457)
|
Okur-Chung neurodevelopmental syndrome
(MONDO_0014893)
|
Strong
|
|
|
CHMP2B
(HGNC:24537)
|
frontotemporal dementia
(MONDO_0017276)
|
Strong
|
|
|
WDR62
(HGNC:24502)
|
isolated congenital microcephaly
(MONDO_0016056)
|
Strong
|
|
|
WDR62
(HGNC:24502)
|
autosomal recessive primary microcephaly
(MONDO_0016660)
|
Definitive
|
|
|
CRX
(HGNC:2383)
|
Leber congenital amaurosis
(MONDO_0018998)
|
Strong
|
|
|
CRX
(HGNC:2383)
|
cone-rod dystrophy
(MONDO_0015993)
|
Strong
|
|
|
INF2
(HGNC:23791)
|
focal segmental glomerulosclerosis
(MONDO_0100313)
|
Definitive
|
|
|
CPT2
(HGNC:2330)
|
metabolic myopathy
(MONDO_0020123)
|
Strong
|
|
|
GNE
(HGNC:23657)
|
GNE myopathy
(MONDO_0011603)
|
Definitive
|
|
|
CPT2
(HGNC:2330)
|
carnitine palmitoyltransferase II deficiency
(MONDO_0015515)
|
Definitive
|
|
|
CPT1A
(HGNC:2328)
|
carnitine palmitoyl transferase 1A deficiency
(MONDO_0009705)
|
Definitive
|
|
|
ETHE1
(HGNC:23287)
|
ethylmalonic encephalopathy
(MONDO_0011229)
|
Definitive
|
|
|
COMP
(HGNC:2227)
|
pseudoachondroplasia
(MONDO_0008322)
|
Definitive
|
|