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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
NAA10
(HGNC:18704)
microphthalmia, syndromic 1
(MONDO_0010671)
 Moderate
COG6
(HGNC:18621)
COG6-congenital disorder of glycosylation
(MONDO_0013810)
 Strong
COG7
(HGNC:18622)
COG7-congenital disorder of glycosylation
(MONDO_0012118)
 Moderate
LRRK2
(HGNC:18618)
autosomal dominant Parkinson disease 8
(MONDO_0011764)
 Definitive
CPT1C
(HGNC:18540)
hereditary spastic paraplegia 73
(MONDO_0014568)
 Limited
CPT1C
(HGNC:18540)
hereditary spastic paraplegia
(MONDO_0019064)
 Moderate
LRRK2
(HGNC:18618)
Parkinson disease
(MONDO_0005180)
 Definitive
NEK9
(HGNC:18591)
NEK9-related lethal skeletal dysplasia
(MONDO_0014870)
 Moderate
CEP250
(HGNC:1859)
retinitis pigmentosa
(MONDO_0019200)
 Moderate
NEK10
(HGNC:18592)
primary ciliary dyskinesia
(MONDO_0016575)
 Limited
CENPF
(HGNC:1857)
Stromme syndrome
(MONDO_0009477)
 Moderate
CENPE
(HGNC:1856)
autosomal recessive primary microcephaly
(MONDO_0016660)
 Limited
RNASEH2A
(HGNC:18518)
Aicardi-Goutieres syndrome
(MONDO_0018866)
 Strong
CENPE
(HGNC:1856)
Seckel syndrome
(MONDO_0019342)
 Limited
CYS1
(HGNC:18525)
polycystic kidney disease
(MONDO_0020642)
 Limited
RNF43
(HGNC:18505)
hyperplastic polyposis syndrome
(MONDO_0015524)
 Limited
CEL
(HGNC:1848)
maturity-onset diabetes of the young type 8
(MONDO_0012348)
 Strong
ATP6V0A2
(HGNC:18481)
autosomal recessive cutis laxa type 2A
(MONDO_0018163)
 Definitive
CELSR1
(HGNC:1850)
hydrops fetalis
(MONDO_0015193)
 Limited
CEL
(HGNC:1848)
maturity-onset diabetes of the young
(MONDO_0018911)
 Moderate
Showing 2941–2960 of 6681