Variant Synonymizer: Platform to identify mutations defined in different ways is available now!

VarSy

Over 2,000 gene–disease validation summaries are now available—no login required!

Browse Summaries

Stats

Total associations
6681
Unique genes
4239
Unique diseases
3297
Gene–disease association summaries
Back to Open Access Summaries

Gene–Disease Browser

Need updated, customized, evidence‑backed summaries? Get it from the leaders in AI‑powered, evidence‑backed summaries provider.
Contact us
Gene Disease Score Actions
NPC1
(HGNC:7897)
Niemann-Pick disease type C
(MONDO_0018982)
 Definitive
NHS
(HGNC:7820)
Nance-Horan syndrome
(MONDO_0010545)
 Strong
PNP
(HGNC:7892)
purine nucleoside phosphorylase deficiency
(MONDO_0013171)
 Definitive
NOG
(HGNC:7866)
proximal symphalangism
(MONDO_0008511)
 Strong
NFIX
(HGNC:7788)
Malan overgrowth syndrome
(MONDO_0013885)
 Definitive
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)
 Definitive
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)
 Definitive
MYOC
(HGNC:7610)
juvenile open angle glaucoma
(MONDO_0020367)
 Strong
MYOC
(HGNC:7610)
ocular hypertension
(MONDO_0006875)
 Strong
MYOC
(HGNC:7610)
open-angle glaucoma
(MONDO_0005338)
 Definitive
MYOC
(HGNC:7610)
glaucoma
(MONDO_0005041)
 Definitive
Showing 4461–4480 of 6681