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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
INS
(HGNC:6081)
transient neonatal diabetes mellitus
(MONDO_0020525)
 Limited
INS
(HGNC:6081)
maturity-onset diabetes of the young
(MONDO_0018911)
 Moderate
INS
(HGNC:6081)
hyperproinsulinemia
(MONDO_0014535)
 Limited
INPPL1
(HGNC:6080)
opsismodysplasia
(MONDO_0009785)
 Strong
INS
(HGNC:6081)
maturity-onset diabetes of the young type 10
(MONDO_0013240)
 Limited
ING1
(HGNC:6062)
head and neck squamous cell carcinoma
(MONDO_0010150)
 Limited
IMPG1
(HGNC:6055)
adult-onset foveomacular vitelliform dystrophy
(MONDO_0011979)
 Moderate
IMPG1
(HGNC:6055)
retinitis pigmentosa
(MONDO_0019200)
 Moderate
IMPDH1
(HGNC:6052)
retinitis pigmentosa
(MONDO_0019200)
 Definitive
APOA1
(HGNC:600)
AApoAI amyloidosis
(MONDO_0019731)
 Moderate
IMPDH1
(HGNC:6052)
inherited retinal dystrophy
(MONDO_0019118)
 Strong
IMPDH1
(HGNC:6052)
Leber congenital amaurosis
(MONDO_0018998)
 Moderate
IMPDH1
(HGNC:6052)
Leber congenital amaurosis 11
(MONDO_0013454)
 Strong
APOB
(HGNC:603)
homozygous familial hypercholesterolemia
(MONDO_0018328)
 Limited
IL2RG
(HGNC:6010)
Omenn syndrome
(MONDO_0011338)
 Strong
APOB
(HGNC:603)
hypercholesterolemia, autosomal dominant, type B
(MONDO_0007751)
 Definitive
IL7R
(HGNC:6024)
Omenn syndrome
(MONDO_0011338)
 Moderate
IL2RA
(HGNC:6008)
neonatal diabetes mellitus
(MONDO_0016391)
 Limited
APOA1
(HGNC:600)
hypoalphalipoproteinemia, primary, 2
(MONDO_0032766)
 Moderate
IL21
(HGNC:6005)
common variable immunodeficiency
(MONDO_0015517)
 Disputed
Showing 1181–1200 of 6681