Variant Synonymizer: Platform to identify mutations defined in different ways is available now!

VarSy

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

Browse Summaries

Stats

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

Gene–Disease Browser

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Gene Disease Score Actions
HOXD1
(HGNC:5132)
ovarian cancer
(MONDO_0008170)
Limited
HOXB7
(HGNC:5118)
neural tube defect
(MONDO_0018075)
Limited
HOXB6
(HGNC:5117)
hypospadias
(MONDO_0005345)
Limited
HOXB4
(HGNC:5115)
acute myeloid leukemia
(MONDO_0018874)
Limited
HOXA7
(HGNC:5108)
acute myeloid leukemia
(MONDO_0018874)
Limited
HOXA4
(HGNC:5105)
hypospadias
(MONDO_0005345)
Limited
HNRNPK
(HGNC:5044)
Au-Kline syndrome
(MONDO_0014700)
Definitive
HOXA4
(HGNC:5105)
lung adenocarcinoma
(MONDO_0005061)
Limited
HNRNPH3
(HGNC:5043)
salivary duct carcinoma
(MONDO_0044915)
Limited
RIPK4
(HGNC:496)
Bartsocas-Papas syndrome 1
(MONDO_0009901)
Definitive
HLX
(HGNC:4978)
congenital diaphragmatic hernia
(MONDO_0005711)
Limited
HK3
(HGNC:4925)
premature menopause
(MONDO_0001119)
Disputed
ANGPTL2
(HGNC:490)
Schimke immuno-osseous dysplasia
(MONDO_0009458)
Disputed
HCCS
(HGNC:4837)
linear skin defects with multiple congenital anomalies 1
(MONDO_0024552)
Strong
HARS2
(HGNC:4817)
Perrault syndrome
(MONDO_0017312)
Strong
H2BC15 Gene
(HGNC:4749)
prostate cancer
(MONDO_0008315)
Limited
GYG2
(HGNC:4700)
Leigh syndrome
(MONDO_0009723)
Limited
GTPBP2
(HGNC:4670)
Jaberi-Elahi syndrome
(MONDO_0060711)
Strong
GYG2
(HGNC:4700)
glycogen storage disease II
(MONDO_0009290)
Disputed
GUCY1B1
(HGNC:4687)
hypertensive disorder
(MONDO_0005044)
Moderate
Showing 5401–5420 of 6681