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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
JAZF1
(HGNC:28917)
systemic lupus erythematosus
(MONDO_0007915)
 Moderate
CCDC22
(HGNC:28909)
Ritscher-Schinzel syndrome
(MONDO_0019078)
 Strong
WDR45
(HGNC:28912)
West syndrome
(MONDO_0018097)
 Moderate
CCDC120
(HGNC:28910)
osteopetrosis
(MONDO_0017198)
 Limited
CCDC22
(HGNC:28909)
epilepsy
(MONDO_0005027)
 Limited
SAMD11
(HGNC:28706)
retinitis pigmentosa
(MONDO_0019200)
 Limited
MAGT1
(HGNC:28880)
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
(MONDO_0010455)
 Strong
DIAPH1
(HGNC:2876)
progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
(MONDO_0014714)
 Definitive
DRAM2
(HGNC:28769)
cone-rod dystrophy
(MONDO_0015993)
 Moderate
MAGT1
(HGNC:28880)
X-linked intellectual disability
(MONDO_0100284)
 Disputed
P4HTM
(HGNC:28858)
hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities
(MONDO_0032780)
 Strong
DIAPH1
(HGNC:2876)
autosomal dominant nonsyndromic hearing loss 1
(MONDO_0007424)
 Strong
DRAM2
(HGNC:28769)
cone-rod dystrophy 21
(MONDO_0014669)
 Moderate
CYB5R3
(HGNC:2873)
methemoglobinemia due to deficiency of methemoglobin reductase
(MONDO_0009606)
 Definitive
CYB5R3
(HGNC:2873)
hereditary methemoglobinemia
(MONDO_0018963)
 Definitive
AFG2B
(HGNC:28762)
neurodevelopmental disorder with hearing loss and spasticity
(MONDO_0859206)
 Limited
COQ5
(HGNC:28722)
neurodevelopmental disorder
(MONDO_0700092)
 Moderate
DHODH
(HGNC:2867)
postaxial acrofacial dysostosis
(MONDO_0009903)
 Definitive
DHH
(HGNC:2865)
46,XY complete gonadal dysgenesis
(MONDO_0010765)
 Strong
DIS3L2
(HGNC:28648)
Perlman syndrome
(MONDO_0009965)
 Strong
Showing 2101–2120 of 6681