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
HOMER2
(HGNC:17513)
autosomal dominant nonsyndromic hearing loss 68
(MONDO_0014740)
 Moderate
ADGRV1
(HGNC:17416)
Usher syndrome type 2
(MONDO_0016484)
 Strong
NMNAT1
(HGNC:17877)
Leber congenital amaurosis 9
(MONDO_0012056)
 Definitive
CDKN1B
(HGNC:1785)
multiple endocrine neoplasia
(MONDO_0017169)
 Moderate
INVS
(HGNC:17870)
nephronophthisis 2
(MONDO_0011190)
 Moderate
INVS
(HGNC:17870)
Senior-Loken syndrome
(MONDO_0017842)
 Limited
CDH11
(HGNC:1750)
Elsahy-Waters syndrome
(MONDO_0008885)
 Strong
CDKN1C
(HGNC:1786)
Silver-Russell syndrome
(MONDO_0008394)
 Strong
AFF4
(HGNC:17869)
cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
(MONDO_0014609)
 Strong
TRAF3IP1
(HGNC:17861)
Senior-Loken syndrome
(MONDO_0017842)
 Limited
NT5C3A
(HGNC:17820)
hemolytic anemia due to pyrimidine 5' nucleotidase deficiency
(MONDO_0009946)
 Strong
CDKN1B
(HGNC:1785)
multiple endocrine neoplasia type 4
(MONDO_0012552)
 Strong
NUP188
(HGNC:17859)
sandestig-stefanova syndrome
(MONDO_0032926)
 Moderate
ZFTRAF1
(HGNC:17806)
neurodevelopmental disorder
(MONDO_0700092)
 Moderate
MAP3K20
(HGNC:17797)
split hand-foot malformation
(MONDO_0016576)
 Moderate
CDK6
(HGNC:1777)
autosomal recessive primary microcephaly
(MONDO_0016660)
 Limited
TNFRSF13C
(HGNC:17755)
common variable immunodeficiency
(MONDO_0015517)
 Limited
CLCF1
(HGNC:17412)
Cold-induced sweating syndrome 1
(MONDO_0010091)
 Moderate
THSD1
(HGNC:17754)
non-immune hydrops fetalis
(MONDO_0009369)
 Moderate
ADGRV1
(HGNC:17416)
Usher syndrome type 2C
(MONDO_0011558)
 Definitive
Showing 3081–3100 of 6699