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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
CHD2
(HGNC:1917)
Lennox-Gastaut syndrome
(MONDO_0016532)
 Strong
CHD1L
(HGNC:1916)
congenital anomaly of kidney and urinary tract
(MONDO_0019719)
 Limited
KIF17
(HGNC:19167)
schizophrenia
(MONDO_0005090)
 Limited
POMGNT1
(HGNC:19139)
retinitis pigmentosa
(MONDO_0019200)
 Strong
CHD1
(HGNC:1915)
Pilarowski-Bjornsson syndrome
(MONDO_0060568)
 Moderate
POMGNT1
(HGNC:19139)
muscular dystrophy-dystroglycanopathy, type A
(MONDO_0000171)
 Definitive
POMGNT1
(HGNC:19139)
autosomal recessive limb-girdle muscular dystrophy type 2O
(MONDO_0013161)
 Limited
HS6ST2
(HGNC:19133)
Paganini-Miozzo syndrome
(MONDO_0026724)
 Limited
PSAT1
(HGNC:19129)
neurometabolic disorder due to serine deficiency
(MONDO_0018162)
 Strong
PSAT1
(HGNC:19129)
PSAT deficiency
(MONDO_0012596)
 Strong
CRB2
(HGNC:18688)
retinitis pigmentosa
(MONDO_0019200)
 Limited
CRB2
(HGNC:18688)
ventriculomegaly-cystic kidney disease
(MONDO_0009063)
 Strong
FGD4
(HGNC:19125)
Charcot-Marie-Tooth disease
(MONDO_0015626)
 Strong
RTTN
(HGNC:18654)
bilateral generalized polymicrogyria
(MONDO_0013907)
 Moderate
PSAT1
(HGNC:19129)
Neu-Laxova syndrome
(MONDO_0000179)
 Definitive
NPHP4
(HGNC:19104)
Senior-Loken syndrome
(MONDO_0017842)
 Moderate
FGD4
(HGNC:19125)
Charcot-Marie-Tooth disease type 4H
(MONDO_0012250)
 Definitive
RIGI
(HGNC:19102)
Singleton-Merten dysplasia
(MONDO_0008429)
 Definitive
NALCN
(HGNC:19082)
congenital contractures of the limbs and face, hypotonia, and developmental delay
(MONDO_0014556)
 Definitive
NALCN
(HGNC:19082)
Freeman-Sheldon syndrome
(MONDO_0008675)
 Disputed
Showing 2881–2900 of 6681