Stats
Gene–disease association summaries
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
|
|