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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
RSPH3
(HGNC:21054)
male infertility
(MONDO_0005372)
 Limited
ARHGAP18
(HGNC:21035)
schizophrenia
(MONDO_0005090)
 Limited
ARHGAP15
(HGNC:21030)
diverticulitis
(MONDO_0004235)
 Limited
CPO
(HGNC:21011)
hereditary coproporphyria
(MONDO_0007369)
 Strong
ZMYND15
(HGNC:20997)
azoospermia
(MONDO_0100459)
 Strong
CMA1
(HGNC:2097)
atopic eczema
(MONDO_0004980)
 Limited
ADGRL3
(HGNC:20974)
attention deficit-hyperactivity disorder
(MONDO_0007743)
 Strong
PHACTR2
(HGNC:20956)
lung cancer
(MONDO_0008903)
 Limited
BLOC1S3
(HGNC:20914)
Hermansky-Pudlak syndrome
(MONDO_0019312)
 Moderate
DZIP1
(HGNC:20908)
mitral valve prolapse
(MONDO_0004910)
 Moderate
ADAM30
(HGNC:208)
type 2 diabetes mellitus
(MONDO_0005148)
 Moderate
LRIG2
(HGNC:20889)
Ochoa syndrome
(MONDO_0000463)
 Strong
FNBP1L
(HGNC:20851)
Alzheimer disease
(MONDO_0004975)
 Limited
ANKFY1
(HGNC:20763)
steroid-resistant nephrotic syndrome
(MONDO_0044765)
 Limited
CLPP
(HGNC:2084)
Perrault syndrome
(MONDO_0017312)
 Definitive
ARMC9
(HGNC:20730)
Joubert syndrome
(MONDO_0018772)
 Strong
GNB4
(HGNC:20731)
Charcot-Marie-Tooth disease
(MONDO_0015626)
 Strong
SCFD1
(HGNC:20726)
amyotrophic lateral sclerosis
(MONDO_0004976)
 Limited
ELP3
(HGNC:20696)
amyotrophic lateral sclerosis
(MONDO_0004976)
 Limited
ZBED3
(HGNC:20711)
type 2 diabetes mellitus
(MONDO_0005148)
 Limited
Showing 6041–6060 of 6681