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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
PIK3R5
(HGNC:30035)
spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
(MONDO_0018996)
 Limited
DPM1
(HGNC:3005)
congenital disorder of glycosylation type 1E
(MONDO_0012123)
 Strong
PACS1
(HGNC:30032)
Schuurs-Hoeijmakers syndrome
(MONDO_0014006)
 Definitive
ABCA1
(HGNC:29)
Tangier disease
(MONDO_0008783)
 Definitive
COASY
(HGNC:29932)
pontocerebellar hypoplasia, type 12
(MONDO_0032643)
 Strong
DPAGT1
(HGNC:2995)
DPAGT1-congenital disorder of glycosylation
(MONDO_0011964)
 Definitive
NDUFAF3
(HGNC:29918)
mitochondrial complex I deficiency
(MONDO_0100133)
 Strong
SPATA16
(HGNC:29935)
spermatogenic failure 6
(MONDO_0007060)
 Limited
COASY
(HGNC:29932)
neurodegeneration with brain iron accumulation 6
(MONDO_0014290)
 Moderate
NDUFAF3
(HGNC:29918)
mitochondrial disease
(MONDO_0044970)
 Strong
NUP107
(HGNC:29914)
Galloway-Mowat syndrome
(MONDO_0009627)
 Strong
MDM1
(HGNC:29917)
schizophrenia
(MONDO_0005090)
 Limited
NUP107
(HGNC:29914)
familial idiopathic steroid-resistant nephrotic syndrome
(MONDO_0019006)
 Limited
HECW2
(HGNC:29853)
neurodevelopmental disorder with hypotonia, seizures, and absent language
(MONDO_0014995)
 Limited
NSMF
(HGNC:29843)
hypogonadotropic hypogonadism
(MONDO_0018555)
 Limited
NUP107
(HGNC:29914)
46 XX gonadal dysgenesis
(MONDO_0009299)
 Moderate
MYLK3
(HGNC:29826)
dilated cardiomyopathy
(MONDO_0005021)
 Strong
NADSYN1
(HGNC:29832)
congenital vertebral-cardiac-renal anomalies syndrome
(MONDO_0020831)
 Strong
DNMT3B
(HGNC:2979)
facioscapulohumeral muscular dystrophy
(MONDO_0001347)
 Limited
DCPS
(HGNC:29812)
Al-Raqad syndrome
(MONDO_0014648)
 Strong
Showing 1961–1980 of 6681