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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
CTTN
(HGNC:3338)
esophageal squamous cell carcinoma
(MONDO_0005580)
 Limited
ELAVL4
(HGNC:3315)
Parkinson disease
(MONDO_0005180)
 Limited
ELFN1
(HGNC:33154)
restless legs syndrome
(MONDO_0005391)
 Limited
AGRP
(HGNC:330)
obesity disorder
(MONDO_0011122)
 Limited
NKX2-6
(HGNC:32940)
persistent truncus arteriosus
(MONDO_0018072)
 Moderate
AGRP
(HGNC:330)
morbid obesity
(MONDO_0005139)
 Limited
NKX2-6
(HGNC:32940)
congenital heart disease
(MONDO_0005453)
 Moderate
EIF4EBP3
(HGNC:3290)
colorectal cancer
(MONDO_0005575)
 Limited
TRIM71
(HGNC:32669)
congenital hydrocephalus
(MONDO_0016349)
 Strong
GFRAL
(HGNC:32789)
anorexia nervosa
(MONDO_0005351)
 Limited
PRCD
(HGNC:32528)
retinitis pigmentosa
(MONDO_0019200)
 Strong
ALG11
(HGNC:32456)
congenital disorder of glycosylation
(MONDO_0015286)
 Moderate
EHD3
(HGNC:3244)
major depressive disorder
(MONDO_0002009)
 Limited
SYNDIG1L
(HGNC:32388)
Alzheimer disease
(MONDO_0004975)
 Limited
EEF1B2
(HGNC:3208)
intellectual disability
(MONDO_0001071)
 Moderate
NBEAL2
(HGNC:31928)
gray platelet syndrome
(MONDO_0007686)
 Definitive
AGA
(HGNC:318)
aspartylglucosaminuria
(MONDO_0008830)
 Definitive
PHC1
(HGNC:3182)
autosomal recessive primary microcephaly
(MONDO_0016660)
 Moderate
TRIM67
(HGNC:31859)
hypospadias
(MONDO_0005345)
 Disputed
BOD1L1
(HGNC:31792)
premature menopause
(MONDO_0001119)
 Limited
Showing 5501–5520 of 6681