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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
F5
(HGNC:3542)
congenital factor V deficiency
(MONDO_0009210)
 Definitive
F5
(HGNC:3542)
thrombophilia due to activated protein C resistance
(MONDO_0008560)
 Strong
F2
(HGNC:3535)
congenital prothrombin deficiency
(MONDO_0013361)
 Moderate
F13B
(HGNC:3534)
congenital factor XIII deficiency
(MONDO_0018029)
 Strong
F13B
(HGNC:3534)
factor XIII, b subunit, deficiency of
(MONDO_0013190)
 Strong
F12
(HGNC:3530)
hereditary angioedema type 3
(MONDO_0012526)
 Strong
F12
(HGNC:3530)
congenital factor XII deficiency
(MONDO_0009315)
 Strong
F11
(HGNC:3529)
congenital factor XI deficiency
(MONDO_0012897)
 Strong
EZH2
(HGNC:3527)
Weaver syndrome
(MONDO_0010193)
 Definitive
EYA4
(HGNC:3522)
autosomal dominant nonsyndromic hearing loss 10
(MONDO_0011031)
 Definitive
EXTL3
(HGNC:3518)
immunoskeletal dysplasia with neurodevelopmental abnormalities
(MONDO_0044312)
 Strong
EXT2
(HGNC:3513)
seizures-scoliosis-macrocephaly syndrome
(MONDO_0014731)
 Moderate
EXT1
(HGNC:3512)
chondrosarcoma
(MONDO_0008977)
 Moderate
BHLHA9
(HGNC:35126)
mesoaxial synostotic syndactyly with phalangeal reduction
(MONDO_0012271)
 Moderate
EXO1
(HGNC:3511)
Lynch syndrome
(MONDO_0005835)
 Disputed
EWSR1
(HGNC:3508)
amyotrophic lateral sclerosis
(MONDO_0004976)
 Limited
ABCA4
(HGNC:34)
Stargardt disease
(MONDO_0019353)
 Definitive
ABCA4
(HGNC:34)
retinitis pigmentosa
(MONDO_0019200)
 Strong
ABCA4
(HGNC:34)
cone-rod dystrophy
(MONDO_0015993)
 Strong
ABCA4
(HGNC:34)
severe early-childhood-onset retinal dystrophy
(MONDO_0009549)
 Definitive
Showing 1721–1740 of 6681