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Over 2,000 gene–disease validation summaries are now available—no login required!

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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
C10orf71
(HGNC:26973)
dilated cardiomyopathy
(MONDO_0005021)
 Moderate
GPCPD1
(HGNC:26957)
2q37 microdeletion syndrome
(MONDO_0010886)
 Disputed
GSTT4
(HGNC:26930)
velocardiofacial syndrome
(MONDO_0008644)
 Disputed
UFC1
(HGNC:26941)
neurodevelopmental disorder
(MONDO_0700092)
 Limited
UFC1
(HGNC:26941)
intellectual disability
(MONDO_0001071)
 Limited
FOXRED1
(HGNC:26927)
mitochondrial complex I deficiency
(MONDO_0100133)
 Moderate
JAGN1
(HGNC:26926)
severe congenital neutropenia
(MONDO_0018542)
 Definitive
TAPT1
(HGNC:26887)
osteogenesis imperfecta
(MONDO_0019019)
 Moderate
ERCC6L2
(HGNC:26922)
pancytopenia
(MONDO_0001529)
 Definitive
FAM241A
(HGNC:26813)
type 2 diabetes mellitus
(MONDO_0005148)
 Limited
CKAP2L
(HGNC:26877)
Filippi syndrome
(MONDO_0010092)
 Strong
ANKRD31
(HGNC:26853)
premature menopause
(MONDO_0001119)
 Limited
TYW5
(HGNC:26754)
schizophrenia
(MONDO_0005090)
 Limited
CCDC116
(HGNC:26688)
lung cancer
(MONDO_0008903)
 Limited
ANKS6
(HGNC:26724)
nephronophthisis
(MONDO_0019005)
 Strong
MLKL
(HGNC:26617)
Alzheimer disease
(MONDO_0004975)
 Limited
TERB1
(HGNC:26675)
female infertility
(MONDO_0021124)
 Limited
HYLS1
(HGNC:26558)
Joubert syndrome
(MONDO_0018772)
 Moderate
ODAD1
(HGNC:26560)
primary ciliary dyskinesia
(MONDO_0016575)
 Strong
ZFYVE27
(HGNC:26559)
hereditary spastic paraplegia
(MONDO_0019064)
 Disputed
Showing 5741–5760 of 6681