Stats
Gene–disease association summaries
Gene–Disease Browser
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| Gene |
Disease |
Score |
Actions |
|
RAB33B
(HGNC:16075)
|
Smith-McCort dysplasia
(MONDO_0015799)
|
Strong
|
|
|
RAB33B
(HGNC:16075)
|
Smith-McCort dysplasia 2
(MONDO_0014087)
|
Moderate
|
|
|
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)
|
Moderate
|
|
|
SELENON
(HGNC:15999)
|
desmin-related myopathy with Mallory body-like inclusions
(MONDO_0019398)
|
Limited
|
|
|
SELENON
(HGNC:15999)
|
rigid spine muscular dystrophy 1
(MONDO_0011271)
|
Strong
|
|
|
SELENON
(HGNC:15999)
|
congenital fiber-type disproportion myopathy
(MONDO_0009711)
|
Moderate
|
|
|
NAV3
(HGNC:15998)
|
neurodevelopmental disorder
(MONDO_0700092)
|
Moderate
|
|
|
TP63
(HGNC:15979)
|
split hand-foot malformation
(MONDO_0016576)
|
Moderate
|
|
|
TP63
(HGNC:15979)
|
limb-mammary syndrome
(MONDO_0011334)
|
Strong
|
|
|
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)
|
Definitive
|
|
|
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
|
|
|
SAMHD1
(HGNC:15925)
|
Aicardi-Goutieres syndrome 5
(MONDO_0013059)
|
Strong
|
|
|
RP1L1
(HGNC:15946)
|
retinitis pigmentosa
(MONDO_0019200)
|
Moderate
|
|