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
PNP
(HGNC:7892)
purine nucleoside phosphorylase deficiency
(MONDO_0013171)
 Definitive
NOG
(HGNC:7866)
proximal symphalangism
(MONDO_0008511)
 Definitive
NFIX
(HGNC:7788)
Malan overgrowth syndrome
(MONDO_0013885)
 Strong
NFKB2
(HGNC:7795)
common variable immunodeficiency
(MONDO_0015517)
 Strong
NFIX
(HGNC:7788)
Marshall-Smith syndrome
(MONDO_0011244)
 Strong
NEU1
(HGNC:7758)
sialidosis
(MONDO_0017734)
 Definitive
NEFL
(HGNC:7739)
Charcot-Marie-Tooth disease
(MONDO_0015626)
 Strong
NEB
(HGNC:7720)
nemaline myopathy
(MONDO_0018958)
 Definitive
NDUFV1
(HGNC:7716)
Leigh syndrome
(MONDO_0009723)
 Strong
NDP
(HGNC:7678)
exudative vitreoretinopathy
(MONDO_0019516)
 Definitive
NDP
(HGNC:7678)
Norrie disease
(MONDO_0010691)
 Definitive
NCF1
(HGNC:7660)
chronic granulomatous disease
(MONDO_0018305)
 Definitive
NAGLU
(HGNC:7632)
mucopolysaccharidosis type 3B
(MONDO_0009656)
 Definitive
MYOC
(HGNC:7610)
OPTN-related open angle glaucoma
(MONDO_0100553)
 Strong
MYOC
(HGNC:7610)
juvenile open angle glaucoma
(MONDO_0020367)
 Strong
MYOC
(HGNC:7610)
ocular hypertension
(MONDO_0006875)
 Moderate
MYOC
(HGNC:7610)
open-angle glaucoma
(MONDO_0005338)
 Definitive
MYOC
(HGNC:7610)
glaucoma
(MONDO_0005041)
 Definitive
MYO7A
(HGNC:7606)
Usher syndrome
(MONDO_0019501)
 Definitive
MYO7A
(HGNC:7606)
Usher syndrome type 1
(MONDO_0010168)
 Definitive
Showing 4481–4500 of 6699