Stats

Total associations
6699
Unique genes
4252
Unique diseases
3300
Gene–disease association summaries
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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
Showing 2661–2680 of 6699