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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
RNASEH2B
(HGNC:25671)
Aicardi-Goutieres syndrome 2
(MONDO_0012429)
 Strong
RNASEH2B
(HGNC:25671)
prostate cancer
(MONDO_0008315)
 Limited
AAGAB
(HGNC:25662)
punctate palmoplantar keratoderma type 1
(MONDO_0019332)
 Strong
CCDC88A
(HGNC:25523)
PEHO-like syndrome
(MONDO_0020495)
 Limited
BCORL1
(HGNC:25657)
Shukla-Vernon syndrome
(MONDO_0026727)
 Moderate
ANO10
(HGNC:25519)
autosomal recessive spinocerebellar ataxia 10
(MONDO_0013392)
 Limited
TTC21B
(HGNC:25660)
nephronophthisis 12
(MONDO_0013442)
 Strong
TBC1D23
(HGNC:25622)
pontocerebellar hypoplasia, type 11
(MONDO_0054669)
 Moderate
WRAP53
(HGNC:25522)
dyskeratosis congenita
(MONDO_0015780)
 Moderate
ARL13B
(HGNC:25419)
Joubert syndrome
(MONDO_0018772)
 Strong
ODAD2
(HGNC:25583)
primary ciliary dyskinesia
(MONDO_0016575)
 Strong
CWF19L1
(HGNC:25613)
autosomal recessive spinocerebellar ataxia 17
(MONDO_0014503)
 Moderate
NAXD
(HGNC:25576)
NAD(P)HX dehydratase deficiency
(MONDO_0034121)
 Moderate
VPS53
(HGNC:25608)
pontocerebellar hypoplasia type 2E
(MONDO_0014370)
 Limited
SETD5
(HGNC:25566)
intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
(MONDO_0014336)
 Strong
CUL3
(HGNC:2553)
neurodevelopmental disorder with or without autism or seizures
(MONDO_0030994)
 Strong
DARS2
(HGNC:25538)
mitochondrial disease
(MONDO_0044970)
 Moderate
CUBN
(HGNC:2548)
Imerslund-Grasbeck syndrome
(MONDO_0009853)
 Strong
TRMU
(HGNC:25481)
acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
(MONDO_0013111)
 Strong
VAC14
(HGNC:25507)
Yunis-Varon syndrome
(MONDO_0008995)
 Limited
Showing 2321–2340 of 6681