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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
GUF1
(HGNC:25799)
West syndrome
(MONDO_0018097)
 Limited
EFL1
(HGNC:25789)
Shwachman-Diamond syndrome
(MONDO_0009833)
 Moderate
REEP1
(HGNC:25786)
hereditary spastic paraplegia 31
(MONDO_0012453)
 Definitive
ARMC5
(HGNC:25781)
ACTH-independent macronodular adrenal hyperplasia 2
(MONDO_0014416)
 Definitive
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)
 Moderate
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)
 Strong
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)
 Disputed
RNASEH2B
(HGNC:25671)
Aicardi-Goutieres syndrome
(MONDO_0018866)
 Definitive
Showing 2301–2320 of 6681