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Gene–disease association summaries
Gene–Disease Browser
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| Gene |
Disease |
Score |
Actions |
|
REEP1
(HGNC:25786)
|
hereditary spastic paraplegia 31
(MONDO_0012453)
|
Strong
|
|
|
ARMC5
(HGNC:25781)
|
ACTH-independent macronodular adrenal hyperplasia 2
(MONDO_0014416)
|
Strong
|
|
|
CYBA
(HGNC:2577)
|
chronic granulomatous disease
(MONDO_0018305)
|
Definitive
|
|
|
TCTN2
(HGNC:25774)
|
Meckel syndrome
(MONDO_0018921)
|
Limited
|
|
|
NHEJ1
(HGNC:25737)
|
Cernunnos-XLF deficiency
(MONDO_0012650)
|
Strong
|
|
|
TRAPPC11
(HGNC:25751)
|
autosomal recessive limb-girdle muscular dystrophy type R18
(MONDO_0014144)
|
Strong
|
|
|
TRAPPC11
(HGNC:25751)
|
triple-A syndrome
(MONDO_0009279)
|
Limited
|
|
|
GPATCH3
(HGNC:25720)
|
congenital glaucoma
(MONDO_0020366)
|
Limited
|
|
|
CARS2
(HGNC:25695)
|
mitochondrial disease
(MONDO_0044970)
|
Moderate
|
|
|
CARS2
(HGNC:25695)
|
combined oxidative phosphorylation defect type 27
(MONDO_0014728)
|
Moderate
|
|
|
OFD1
(HGNC:2567)
|
retinitis pigmentosa
(MONDO_0019200)
|
Limited
|
|
|
OFD1
(HGNC:2567)
|
primary ciliary dyskinesia
(MONDO_0016575)
|
Moderate
|
|
|
OFD1
(HGNC:2567)
|
orofaciodigital syndrome I
(MONDO_0010702)
|
Definitive
|
|
|
OFD1
(HGNC:2567)
|
Joubert syndrome 10
(MONDO_0010431)
|
Strong
|
|
|
OFD1
(HGNC:2567)
|
retinitis pigmentosa 23
(MONDO_0010320)
|
Limited
|
|
|
CXCR4
(HGNC:2561)
|
WHIM syndrome
(MONDO_0023880)
|
Definitive
|
|
|
OFD1
(HGNC:2567)
|
Simpson-Golabi-Behmel syndrome type 2
(MONDO_0010265)
|
Limited
|
|
|
RNASEH2B
(HGNC:25671)
|
Aicardi-Goutieres syndrome
(MONDO_0018866)
|
Definitive
|
|
|
RNASEH2B
(HGNC:25671)
|
Aicardi-Goutieres syndrome 2
(MONDO_0012429)
|
Strong
|
|
|
RNASEH2B
(HGNC:25671)
|
prostate cancer
(MONDO_0008315)
|
Limited
|
|