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Stats

Total associations
6681
Unique genes
4239
Unique diseases
3297
Gene–disease association summaries
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Gene–Disease Browser

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Gene Disease Score Actions
TBC1D20
(HGNC:16133)
Warburg micro syndrome
(MONDO_0016649)
 Strong
MCM8
(HGNC:16147)
colorectal cancer
(MONDO_0005575)
 Limited
RAB33B
(HGNC:16075)
Smith-McCort dysplasia
(MONDO_0015799)
 Strong
RAB33B
(HGNC:16075)
Smith-McCort dysplasia 2
(MONDO_0014087)
 Limited
CFAP52
(HGNC:16053)
situs inversus
(MONDO_0010029)
 Limited
STRC
(HGNC:16035)
autosomal recessive nonsyndromic hearing loss 16
(MONDO_0011364)
 Strong
SUGCT
(HGNC:16001)
glutaric acidemia type 3
(MONDO_0009283)
 Strong
SELENON
(HGNC:15999)
desmin-related myopathy with Mallory body-like inclusions
(MONDO_0019398)
 Limited
SELENON
(HGNC:15999)
rigid spine muscular dystrophy 1
(MONDO_0011271)
 Definitive
SELENON
(HGNC:15999)
congenital fiber-type disproportion myopathy
(MONDO_0009711)
 Moderate
NAV3
(HGNC:15998)
neurodevelopmental disorder
(MONDO_0700092)
 Strong
TP63
(HGNC:15979)
split hand-foot malformation
(MONDO_0016576)
 Limited
TP63
(HGNC:15979)
limb-mammary syndrome
(MONDO_0011334)
 Moderate
TP63
(HGNC:15979)
EEC syndrome
(MONDO_0010004)
 Definitive
TP63
(HGNC:15979)
split hand-foot malformation 4
(MONDO_0011535)
 Limited
TP63
(HGNC:15979)
Rapp-Hodgkin syndrome
(MONDO_0007508)
 Strong
TP63
(HGNC:15979)
ADULT syndrome
(MONDO_0007072)
 Strong
TP63
(HGNC:15979)
ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
(MONDO_0007124)
 Strong
GDAP1
(HGNC:15968)
Charcot-Marie-Tooth disease axonal type 2K
(MONDO_0011916)
 Strong
GDAP1
(HGNC:15968)
Charcot-Marie-Tooth disease type 4A
(MONDO_0008961)
 Definitive
Showing 3261–3280 of 6681