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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
TPO
(HGNC:12015)
congenital hypothyroidism
(MONDO_0018612)
 Limited
BHLHE22
(HGNC:11963)
Glanzmann thrombasthenia
(MONDO_0100326)
 Refuted
TNP2
(HGNC:11952)
azoospermia
(MONDO_0100459)
 Limited
TOMM70
(HGNC:11985)
mitochondrial disease
(MONDO_0044970)
 Limited
FERRY3
(HGNC:1184)
intellectual disability
(MONDO_0001071)
 Strong
TNP2
(HGNC:11952)
male infertility
(MONDO_0005372)
 Limited
NPAP1
(HGNC:1190)
Prader-Willi syndrome
(MONDO_0008300)
 Limited
ANO2
(HGNC:1183)
panic disorder
(MONDO_0005383)
 Limited
TLL2
(HGNC:11844)
spinal muscular atrophy
(MONDO_0001516)
 Limited
TGM3
(HGNC:11779)
uncombable hair syndrome
(MONDO_0008621)
 Moderate
THBS3
(HGNC:11787)
gastric cancer
(MONDO_0001056)
 Limited
TGM5
(HGNC:11781)
acral peeling skin syndrome
(MONDO_0012345)
 Definitive
MRPL49
(HGNC:1176)
combined oxidative phosphorylation deficiency
(MONDO_0000732)
 Strong
TFDP2
(HGNC:11751)
chronic kidney disease
(MONDO_0005300)
 Limited
TFCP2
(HGNC:11748)
Alzheimer disease
(MONDO_0004975)
 Disputed
DAGLA
(HGNC:1165)
attention deficit-hyperactivity disorder
(MONDO_0007743)
 Limited
TEC
(HGNC:11719)
rheumatoid arthritis
(MONDO_0008383)
 Limited
TEC
(HGNC:11719)
systemic lupus erythematosus
(MONDO_0007915)
 Limited
ELOC
(HGNC:11617)
von Hippel-Lindau disease
(MONDO_0008667)
 Limited
TCP11
(HGNC:11658)
inflammatory bowel disease
(MONDO_0005265)
 Limited
Showing 6561–6580 of 6681