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
KIF17
(HGNC:19167)
schizophrenia
(MONDO_0005090)
 Limited
POMGNT1
(HGNC:19139)
retinitis pigmentosa
(MONDO_0019200)
 Strong
CHD1
(HGNC:1915)
Pilarowski-Bjornsson syndrome
(MONDO_0060568)
 Limited
POMGNT1
(HGNC:19139)
muscular dystrophy-dystroglycanopathy, type A
(MONDO_0000171)
 Definitive
POMGNT1
(HGNC:19139)
autosomal recessive limb-girdle muscular dystrophy type 2O
(MONDO_0013161)
 Moderate
HS6ST2
(HGNC:19133)
Paganini-Miozzo syndrome
(MONDO_0026724)
 Limited
PSAT1
(HGNC:19129)
neurometabolic disorder due to serine deficiency
(MONDO_0018162)
 Moderate
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)
 Moderate
FGD4
(HGNC:19125)
Charcot-Marie-Tooth disease
(MONDO_0015626)
 Strong
RTTN
(HGNC:18654)
bilateral generalized polymicrogyria
(MONDO_0013907)
 Limited
PSAT1
(HGNC:19129)
Neu-Laxova syndrome
(MONDO_0000179)
 Strong
NPHP4
(HGNC:19104)
Senior-Loken syndrome
(MONDO_0017842)
 Moderate
FGD4
(HGNC:19125)
Charcot-Marie-Tooth disease type 4H
(MONDO_0012250)
 Strong
RIGI
(HGNC:19102)
Singleton-Merten dysplasia
(MONDO_0008429)
 Strong
NALCN
(HGNC:19082)
congenital contractures of the limbs and face, hypotonia, and developmental delay
(MONDO_0014556)
 Strong
NALCN
(HGNC:19082)
Freeman-Sheldon syndrome
(MONDO_0008675)
 Limited
THOC2
(HGNC:19073)
X-linked intellectual disability-short stature-overweight syndrome
(MONDO_0010496)
 Moderate
GBA2
(HGNC:18986)
hereditary spastic paraplegia 46
(MONDO_0013737)
 Strong
Showing 2901–2920 of 6699