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

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Stats

Total associations
6681
Unique genes
4239
Unique diseases
3297
Gene–disease association summaries
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Gene–Disease Browser

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Gene Disease Score Actions
NRBP1
(HGNC:7993)
steroid-resistant nephrotic syndrome
(MONDO_0044765)
 Limited
NR6A1
(HGNC:7985)
microphthalmia, isolated, with coloboma
(MONDO_0000170)
 Moderate
NR4A3
(HGNC:7982)
extraskeletal myxoid chondrosarcoma
(MONDO_0012825)
 Moderate
ATOH1
(HGNC:797)
intellectual disability
(MONDO_0001071)
 Limited
NOVA1
(HGNC:7886)
Rett syndrome
(MONDO_0010726)
 Limited
NPM2
(HGNC:7930)
premature menopause
(MONDO_0001119)
 Limited
NOX3
(HGNC:7890)
type 2 diabetes mellitus
(MONDO_0005148)
 Limited
NKX2-2
(HGNC:7835)
neonatal diabetes mellitus
(MONDO_0016391)
 Moderate
NNAT
(HGNC:7860)
anorexia nervosa
(MONDO_0005351)
 Limited
NIT1
(HGNC:7828)
EAST syndrome
(MONDO_0013005)
 Disputed
NMU
(HGNC:7859)
anorexia nervosa
(MONDO_0005351)
 Limited
NFKBIB
(HGNC:7798)
rheumatoid arthritis
(MONDO_0008383)
 Limited
TONSL
(HGNC:7801)
spondyloepimetaphyseal dysplasia, sponastrime type
(MONDO_0010068)
 Definitive
NFYA
(HGNC:7804)
Alzheimer disease
(MONDO_0004975)
 Disputed
NEK3
(HGNC:7746)
situs inversus
(MONDO_0010029)
 Limited
NFE2
(HGNC:7780)
acute myeloid leukemia
(MONDO_0018874)
 Limited
NFIC
(HGNC:7786)
neurofibromatosis type 1
(MONDO_0018975)
 Refuted
NDUFS4
(HGNC:7711)
Leigh syndrome
(MONDO_0009723)
 Strong
NDUFC2
(HGNC:7706)
Leigh syndrome
(MONDO_0009723)
 Moderate
NDUFA8
(HGNC:7692)
mitochondrial complex I deficiency
(MONDO_0100133)
 Moderate
Showing 5261–5280 of 6681