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Gene–disease association summaries
Gene–Disease Browser
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| Gene |
Disease |
Score |
Actions |
|
PRR12
(HGNC:29217)
|
neuroocular syndrome
(MONDO_0859193)
|
Limited
|
|
|
INTU
(HGNC:29239)
|
orofaciodigital syndrome 17
(MONDO_0033375)
|
Moderate
|
|
|
TBC1D24
(HGNC:29203)
|
autosomal dominant nonsyndromic hearing loss
(MONDO_0019587)
|
Strong
|
|
|
TBC1D24
(HGNC:29203)
|
malignant migrating partial seizures of infancy
(MONDO_0017385)
|
Limited
|
|
|
TNRC6B
(HGNC:29190)
|
global developmental delay with speech and behavioral abnormalities
(MONDO_0030995)
|
Strong
|
|
|
TBC1D24
(HGNC:29203)
|
autosomal recessive nonsyndromic hearing loss 86
(MONDO_0013826)
|
Moderate
|
|
|
ANKRD26
(HGNC:29186)
|
acute myeloid leukemia
(MONDO_0018874)
|
Moderate
|
|
|
ANKRD26
(HGNC:29186)
|
thrombocytopenia 2
(MONDO_0008555)
|
Definitive
|
|
|
FAN1
(HGNC:29170)
|
hereditary nonpolyposis colon cancer
(MONDO_0018630)
|
Limited
|
|
|
CEP164
(HGNC:29182)
|
Senior-Loken syndrome
(MONDO_0017842)
|
Limited
|
|
|
CEP164
(HGNC:29182)
|
ciliopathy
(MONDO_0005308)
|
Limited
|
|
|
WASHC4
(HGNC:29174)
|
autosomal recessive non-syndromic intellectual disability
(MONDO_0019502)
|
Limited
|
|
|
RPGRIP1L
(HGNC:29168)
|
Joubert syndrome 7
(MONDO_0012694)
|
Strong
|
|
|
RPGRIP1L
(HGNC:29168)
|
Meckel syndrome
(MONDO_0018921)
|
Strong
|
|
|
FASTKD2
(HGNC:29160)
|
combined oxidative phosphorylation deficiency 44
(MONDO_0030020)
|
Moderate
|
|
|
MAU2
(HGNC:29140)
|
neurodevelopmental disorder
(MONDO_0700092)
|
Limited
|
|
|
PLEKHM2
(HGNC:29131)
|
dilated cardiomyopathy
(MONDO_0005021)
|
Limited
|
|
|
DLL4
(HGNC:2910)
|
aplasia cutis congenita
(MONDO_0007145)
|
Limited
|
|
|
DDHD2
(HGNC:29106)
|
hereditary spastic paraplegia 54
(MONDO_0014018)
|
Strong
|
|
|
PLEKHG5
(HGNC:29105)
|
neuromuscular disease
(MONDO_0019056)
|
Moderate
|
|