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Gene–disease association summaries
Gene–Disease Browser
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| Gene |
Disease |
Score |
Actions |
|
COG7
(HGNC:18622)
|
COG7-congenital disorder of glycosylation
(MONDO_0012118)
|
Moderate
|
|
|
LRRK2
(HGNC:18618)
|
autosomal dominant Parkinson disease 8
(MONDO_0011764)
|
Strong
|
|
|
CPT1C
(HGNC:18540)
|
hereditary spastic paraplegia 73
(MONDO_0014568)
|
Limited
|
|
|
CPT1C
(HGNC:18540)
|
hereditary spastic paraplegia
(MONDO_0019064)
|
Limited
|
|
|
LRRK2
(HGNC:18618)
|
Parkinson disease
(MONDO_0005180)
|
Definitive
|
|
|
NEK9
(HGNC:18591)
|
NEK9-related lethal skeletal dysplasia
(MONDO_0014870)
|
Limited
|
|
|
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)
|
Moderate
|
|
|
RNF43
(HGNC:18505)
|
hyperplastic polyposis syndrome
(MONDO_0015524)
|
Moderate
|
|
|
CEL
(HGNC:1848)
|
maturity-onset diabetes of the young type 8
(MONDO_0012348)
|
Moderate
|
|
|
ATP6V0A2
(HGNC:18481)
|
autosomal recessive cutis laxa type 2A
(MONDO_0018163)
|
Strong
|
|
|
CELSR1
(HGNC:1850)
|
hydrops fetalis
(MONDO_0015193)
|
Limited
|
|
|
CEL
(HGNC:1848)
|
maturity-onset diabetes of the young
(MONDO_0018911)
|
Limited
|
|
|
PROK2
(HGNC:18455)
|
Kallmann syndrome
(MONDO_0018800)
|
Moderate
|
|
|
ZDHHC9
(HGNC:18475)
|
X-linked intellectual disability with marfanoid habitus
(MONDO_0010655)
|
Limited
|
|