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
RXYLT1
(HGNC:13530)
muscular dystrophy-dystroglycanopathy, type A
(MONDO_0000171)
 Moderate
ZBTB20
(HGNC:13503)
Primrose syndrome
(MONDO_0009798)
 Strong
SAMD9
(HGNC:1348)
normophosphatemic familial tumoral calcinosis
(MONDO_0012502)
 Moderate
VPS35
(HGNC:13487)
Parkinson disease 17
(MONDO_0013625)
 Strong
USP27X
(HGNC:13486)
X-linked intellectual disability
(MONDO_0100284)
 Moderate
SLC2A9
(HGNC:13446)
hypouricemia, renal, 2
(MONDO_0012793)
 Strong
C7
(HGNC:1346)
complement component 7 deficiency
(MONDO_0012412)
 Definitive
SLC2A9
(HGNC:13446)
hereditary renal hypouricemia
(MONDO_0009071)
 Strong
SLC2A10
(HGNC:13444)
arterial tortuosity syndrome
(MONDO_0008818)
 Definitive
TRAF3IP2
(HGNC:1343)
chronic mucocutaneous candidiasis
(MONDO_0015279)
 Moderate
RPGRIP1
(HGNC:13436)
Leber congenital amaurosis
(MONDO_0018998)
 Definitive
RPGRIP1
(HGNC:13436)
cone-rod dystrophy
(MONDO_0015993)
 Moderate
RPGRIP1
(HGNC:13436)
Leber congenital amaurosis 6
(MONDO_0013446)
 Strong
RLIM
(HGNC:13429)
intellectual disability, X-linked 61
(MONDO_0010506)
 Strong
NEK8
(HGNC:13387)
renal-hepatic-pancreatic dysplasia 2
(MONDO_0014174)
 Moderate
NSDHL
(HGNC:13398)
CK syndrome
(MONDO_0010441)
 Strong
NEK8
(HGNC:13387)
autosomal dominant polycystic kidney disease
(MONDO_0004691)
 Moderate
KDM3B
(HGNC:1337)
Diets-Jongmans syndrome
(MONDO_0030012)
 Moderate
MCOLN1
(HGNC:13356)
Lisch epithelial corneal dystrophy
(MONDO_0010425)
 Moderate
C5
(HGNC:1331)
complement component 5 deficiency
(MONDO_0012295)
 Strong
Showing 3561–3580 of 6699