Stats

Total associations
6699
Unique genes
4252
Unique diseases
3300
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
NFATC1
(HGNC:7775)
congenital heart disease
(MONDO_0005453)
 Limited
NF2
(HGNC:7773)
NF2-related schwannomatosis
(MONDO_0007039)
 Definitive
NF1
(HGNC:7765)
neurofibromatosis type 1
(MONDO_0018975)
 Definitive
NF1
(HGNC:7765)
Moyamoya disease
(MONDO_0016820)
 Moderate
NF1
(HGNC:7765)
neurofibromatosis-Noonan syndrome
(MONDO_0011035)
 Strong
NEUROD1
(HGNC:7762)
maturity-onset diabetes of the young
(MONDO_0018911)
 Moderate
NEUROD1
(HGNC:7762)
monogenic diabetes
(MONDO_0015967)
 Moderate
NEUROD1
(HGNC:7762)
maturity-onset diabetes of the young type 6
(MONDO_0011668)
 Moderate
SERPINC1
(HGNC:775)
hereditary antithrombin deficiency
(MONDO_0013144)
 Definitive
NEU1
(HGNC:7758)
sialidosis type 1
(MONDO_0019346)
 Definitive
NEU1
(HGNC:7758)
sialidosis type 2
(MONDO_0009738)
 Strong
NEK1
(HGNC:7744)
orofaciodigital syndrome type II
(MONDO_0009642)
 Limited
NEFL
(HGNC:7739)
Charcot-Marie-Tooth disease type 2
(MONDO_0018993)
 Strong
NEFH
(HGNC:7737)
amyotrophic lateral sclerosis
(MONDO_0004976)
 Limited
NEDD4L
(HGNC:7728)
periventricular nodular heterotopia
(MONDO_0020341)
 Strong
NEB
(HGNC:7720)
lethal multiple pterygium syndrome
(MONDO_0009668)
 Limited
NDUFV2
(HGNC:7717)
mitochondrial complex I deficiency
(MONDO_0100133)
 Moderate
NDUFV2
(HGNC:7717)
Leigh syndrome
(MONDO_0009723)
 Limited
NDUFV1
(HGNC:7716)
mitochondrial complex I deficiency
(MONDO_0100133)
 Strong
NDUFS8
(HGNC:7715)
mitochondrial complex I deficiency
(MONDO_0100133)
 Moderate
Showing 641–660 of 6699