Stats
Gene–disease association summaries
Gene–Disease Browser
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| Gene |
Disease |
Score |
Actions |
|
COCH
(HGNC:2180)
|
nonsyndromic genetic hearing loss
(MONDO_0019497)
|
Moderate
|
|
|
COCH
(HGNC:2180)
|
autosomal dominant nonsyndromic hearing loss 9
(MONDO_0011058)
|
Definitive
|
|
|
CNTN6
(HGNC:2176)
|
Tourette syndrome
(MONDO_0007661)
|
Limited
|
|
|
CNTN4
(HGNC:2174)
|
autism spectrum disorder
(MONDO_0005258)
|
Limited
|
|
|
LHX4
(HGNC:21734)
|
pituitary stalk interruption syndrome
(MONDO_0019828)
|
Moderate
|
|
|
CCM2
(HGNC:21708)
|
famililal cerebral cavernous malformations
(MONDO_0031037)
|
Strong
|
|
|
BRAT1
(HGNC:21701)
|
neurodevelopmental disorder with cerebellar atrophy and with or without seizures
(MONDO_0020841)
|
Strong
|
|
|
ADAM9
(HGNC:216)
|
cone-rod dystrophy
(MONDO_0015993)
|
Limited
|
|
|
CERKL
(HGNC:21699)
|
retinitis pigmentosa
(MONDO_0019200)
|
Strong
|
|
|
RNASET2
(HGNC:21686)
|
cystic leukoencephalopathy without megalencephaly
(MONDO_0013058)
|
Moderate
|
|
|
RSPO1
(HGNC:21679)
|
palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome
(MONDO_0012530)
|
Moderate
|
|
|
TOPORS
(HGNC:21653)
|
retinitis pigmentosa
(MONDO_0019200)
|
Strong
|
|
|
TOPORS
(HGNC:21653)
|
inherited retinal dystrophy
(MONDO_0019118)
|
Limited
|
|
|
SATB2
(HGNC:21637)
|
chromosome 2q32-q33 deletion syndrome
(MONDO_0012864)
|
Strong
|
|
|
MPC1
(HGNC:21606)
|
mitochondrial pyruvate carrier deficiency
(MONDO_0013877)
|
Strong
|
|
|
CEP85L
(HGNC:21638)
|
lissencephaly 10
(MONDO_0030031)
|
Moderate
|
|
|
RSPH4A
(HGNC:21558)
|
primary ciliary dyskinesia
(MONDO_0016575)
|
Definitive
|
|
|
EYS
(HGNC:21555)
|
retinitis pigmentosa
(MONDO_0019200)
|
Definitive
|
|
|
CNGB3
(HGNC:2153)
|
achromatopsia
(MONDO_0018852)
|
Definitive
|
|
|
CNGB3
(HGNC:2153)
|
cone dystrophy
(MONDO_0000455)
|
Moderate
|
|