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Gene–disease association summaries
Gene–Disease Browser
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| 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
|
|