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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
USH1G
(HGNC:16356)
Usher syndrome type 1G
(MONDO_0011748)
 Limited
USH1G
(HGNC:16356)
Usher syndrome type 1
(MONDO_0010168)
 Moderate
CD19
(HGNC:1633)
common variable immunodeficiency
(MONDO_0015517)
 Strong
UPB1
(HGNC:16297)
beta-ureidopropionase deficiency
(MONDO_0013164)
 Disputed
NFU1
(HGNC:16287)
multiple mitochondrial dysfunctions syndrome 1
(MONDO_0011582)
 Strong
PNPLA6
(HGNC:16268)
trichomegaly-retina pigmentary degeneration-dwarfism syndrome
(MONDO_0010152)
 Definitive
PNPLA6
(HGNC:16268)
hereditary spastic paraplegia 39
(MONDO_0012787)
 Limited
PNPLA6
(HGNC:16268)
Laurence-Moon syndrome
(MONDO_0009514)
 Definitive
PNPLA6
(HGNC:16268)
cerebellar ataxia-hypogonadism syndrome
(MONDO_0008935)
 Strong
SLC19A3
(HGNC:16266)
Leigh syndrome
(MONDO_0009723)
 Strong
SUN5
(HGNC:16252)
spermatogenic failure 16
(MONDO_0014961)
 Definitive
MYLK2
(HGNC:16243)
hypertrophic cardiomyopathy
(MONDO_0005045)
 Limited
DNAJC5
(HGNC:16235)
adult neuronal ceroid lipofuscinosis
(MONDO_0019260)
 Strong
DNAJC5
(HGNC:16235)
ceroid lipofuscinosis, neuronal, 4 (Kufs type)
(MONDO_0008083)
 Definitive
MGME1
(HGNC:16205)
mitochondrial DNA depletion syndrome 11
(MONDO_0014039)
 Limited
ACTL7A
(HGNC:161)
male infertility
(MONDO_0005372)
 Strong
TP53RK
(HGNC:16197)
Galloway-Mowat syndrome
(MONDO_0009627)
 Strong
RSPO4
(HGNC:16175)
nonsyndromic congenital nail disorder 4
(MONDO_0008798)
 Strong
SLC17A9
(HGNC:16192)
disseminated superficial actinic porokeratosis
(MONDO_0019212)
 Limited
ACTL6B
(HGNC:160)
developmental and epileptic encephalopathy, 76
(MONDO_0032768)
 Strong
Showing 3241–3260 of 6681