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Gene–disease association summaries
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
|
|