Stats

Total associations
6699
Unique genes
4252
Unique diseases
3300
Gene–disease association summaries
Back to Open Access Summaries

Gene–Disease Browser

Need updated, customized, evidence‑backed summaries? Get it from the leaders in AI‑powered, evidence‑backed summaries provider.
Contact us
Gene Disease Score Actions
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)
 Limited
ANO10
(HGNC:25519)
autosomal recessive spinocerebellar ataxia 10
(MONDO_0013392)
 Moderate
TTC21B
(HGNC:25660)
nephronophthisis 12
(MONDO_0013442)
 Moderate
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)
 Limited
CUBN
(HGNC:2548)
Imerslund-Grasbeck syndrome
(MONDO_0009853)
 Definitive
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
MTPAP
(HGNC:25532)
mitochondrial disease
(MONDO_0044970)
 Limited
TSR2
(HGNC:25455)
Diamond-Blackfan anemia
(MONDO_0015253)
 Limited
Showing 2341–2360 of 6699