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Over 2,000 gene–disease validation summaries are now available—no login required!

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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
CTSC
(HGNC:2528)
Papillon-Lefevre disease
(MONDO_0009490)
 Definitive
CTNS
(HGNC:2518)
nephropathic cystinosis
(MONDO_0100151)
 Definitive
CTNS
(HGNC:2518)
cystinosis
(MONDO_0016239)
 Definitive
GPIHBP1
(HGNC:24945)
familial lipoprotein lipase deficiency
(MONDO_0009387)
 Definitive
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)
 Definitive
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)
 Definitive
INF2
(HGNC:23791)
focal segmental glomerulosclerosis
(MONDO_0100313)
 Definitive
CPT2
(HGNC:2330)
metabolic myopathy
(MONDO_0020123)
 Definitive
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
Showing 4821–4840 of 6681