Stats

Total associations
6699
Unique genes
4252
Unique diseases
3300
Gene–disease association summaries
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Gene–Disease Browser

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Gene Disease Score Actions
EPG5
(HGNC:29331)
Vici syndrome
(MONDO_0009452)
 Definitive
CC2D2A
(HGNC:29253)
Joubert syndrome
(MONDO_0018772)
 Definitive
WDR35
(HGNC:29250)
cranioectodermal dysplasia
(MONDO_0009032)
 Strong
TBC1D24
(HGNC:29203)
DOORS syndrome
(MONDO_0009079)
 Strong
TBC1D24
(HGNC:29203)
familial infantile myoclonic epilepsy
(MONDO_0011506)
 Strong
ADSL
(HGNC:291)
adenylosuccinate lyase deficiency
(MONDO_0007068)
 Definitive
FAN1
(HGNC:29170)
karyomegalic interstitial nephritis
(MONDO_0013898)
 Strong
DLK1
(HGNC:2907)
central precocious puberty
(MONDO_0019165)
 Strong
IFT140
(HGNC:29077)
short-rib thoracic dysplasia 9 with or without polydactyly
(MONDO_0009964)
 Strong
IQSEC2
(HGNC:29059)
intellectual disability
(MONDO_0001071)
 Definitive
PIEZO1
(HGNC:28993)
dehydrated hereditary stomatocytosis
(MONDO_0017910)
 Definitive
DLD
(HGNC:2898)
pyruvate dehydrogenase E3 deficiency
(MONDO_0009529)
 Definitive
EDAR
(HGNC:2895)
hypohidrotic ectodermal dysplasia
(MONDO_0016535)
 Definitive
WDR45
(HGNC:28912)
neurodegeneration with brain iron accumulation 5
(MONDO_0010476)
 Definitive
WDR45
(HGNC:28912)
neurodegeneration with brain iron accumulation
(MONDO_0018307)
 Definitive
DKC1
(HGNC:2890)
Hoyeraal-Hreidarsson syndrome
(MONDO_0018045)
 Strong
DKC1
(HGNC:2890)
dyskeratosis congenita, X-linked
(MONDO_0010584)
 Definitive
LEMD3
(HGNC:28887)
osteopoikilosis
(MONDO_0001414)
 Definitive
DKC1
(HGNC:2890)
dyskeratosis congenita
(MONDO_0015780)
 Definitive
LEMD3
(HGNC:28887)
Buschke-Ollendorff syndrome
(MONDO_0008157)
 Definitive
Showing 4781–4800 of 6699