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Gene–disease association summaries
Gene–Disease Browser
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| Gene |
Disease |
Score |
Actions |
|
TENT5A
(HGNC:18345)
|
osteogenesis imperfecta
(MONDO_0019019)
|
Moderate
|
|
|
WDR19
(HGNC:18340)
|
Jeune syndrome
(MONDO_0018770)
|
Moderate
|
|
|
WDR19
(HGNC:18340)
|
nephronophthisis 13
(MONDO_0013718)
|
Moderate
|
|
|
WDR19
(HGNC:18340)
|
ciliopathy
(MONDO_0005308)
|
Strong
|
|
|
ALG1
(HGNC:18294)
|
ALG1-congenital disorder of glycosylation
(MONDO_0012052)
|
Definitive
|
|
|
WDR19
(HGNC:18340)
|
cranioectodermal dysplasia
(MONDO_0009032)
|
Strong
|
|
|
CEBPA
(HGNC:1833)
|
acute myeloid leukemia
(MONDO_0018874)
|
Definitive
|
|
|
PADI3
(HGNC:18337)
|
uncombable hair syndrome
(MONDO_0008621)
|
Strong
|
|
|
ASXL1
(HGNC:18318)
|
Bohring-Opitz syndrome
(MONDO_0011510)
|
Definitive
|
|
|
TXNRD2
(HGNC:18155)
|
familial glucocorticoid deficiency
(MONDO_0008733)
|
Moderate
|
|
|
RAX2
(HGNC:18286)
|
retinitis pigmentosa
(MONDO_0019200)
|
Moderate
|
|
|
KCTD1
(HGNC:18249)
|
scalp-ear-nipple syndrome
(MONDO_0008404)
|
Strong
|
|
|
ATP6V0D2
(HGNC:18266)
|
Ehlers-Danlos syndrome
(MONDO_0020066)
|
Limited
|
|
|
BANK1
(HGNC:18233)
|
systemic lupus erythematosus
(MONDO_0007915)
|
Strong
|
|
|
RBFOX1
(HGNC:18222)
|
neurodevelopmental disorder
(MONDO_0700092)
|
Moderate
|
|
|
MOCOS
(HGNC:18234)
|
xanthinuria type II
(MONDO_0011346)
|
Strong
|
|
|
RCBTB1
(HGNC:18243)
|
exudative vitreoretinopathy
(MONDO_0019516)
|
Disputed
|
|
|
RBFOX1
(HGNC:18222)
|
epilepsy
(MONDO_0005027)
|
Limited
|
|
|
TMCO1
(HGNC:18188)
|
craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1
(MONDO_0800436)
|
Strong
|
|
|
GIPC3
(HGNC:18183)
|
autosomal recessive nonsyndromic hearing loss 15
(MONDO_0011160)
|
Strong
|
|