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
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
Showing 3001–3020 of 6699