Variant Synonymizer: Platform to identify mutations defined in different ways is available now!

VarSy

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

Browse Summaries

Stats

Total associations
6681
Unique genes
4239
Unique diseases
3297
Gene–disease association summaries
Back to Open Access Summaries

Gene–Disease Browser

Need updated, customized, evidence‑backed summaries? Get it from the leaders in AI‑powered, evidence‑backed summaries provider.
Contact us
Gene Disease Score Actions
DKC1
(HGNC:2890)
dyskeratosis congenita
(MONDO_0015780)
 Definitive
LEMD3
(HGNC:28887)
Buschke-Ollendorff syndrome
(MONDO_0008157)
 Definitive
NIPBL
(HGNC:28862)
Cornelia de Lange syndrome
(MONDO_0016033)
 Definitive
CYB5R3
(HGNC:2873)
methemoglobinemia
(MONDO_0001117)
 Definitive
DGKE
(HGNC:2852)
atypical hemolytic-uremic syndrome
(MONDO_0016244)
 Strong
DHH
(HGNC:2865)
disorder of sexual differentiation
(MONDO_0002145)
 Strong
MFSD8
(HGNC:28486)
neuronal ceroid lipofuscinosis
(MONDO_0016295)
 Definitive
STING1
(HGNC:27962)
STING-associated vasculopathy with onset in infancy
(MONDO_0014405)
 Definitive
ESCO2
(HGNC:27230)
Roberts-SC phocomelia syndrome
(MONDO_0100253)
 Definitive
RBM20
(HGNC:27424)
dilated cardiomyopathy
(MONDO_0005021)
 Definitive
DCX
(HGNC:2714)
subcortical band heterotopia
(MONDO_0020491)
 Definitive
DDC
(HGNC:2719)
aromatic L-amino acid decarboxylase deficiency
(MONDO_0012084)
 Definitive
AMER1
(HGNC:26837)
osteopathia striata with cranial sclerosis
(MONDO_0010310)
 Definitive
DCX
(HGNC:2714)
lissencephaly spectrum disorders
(MONDO_0018838)
 Definitive
DOK7
(HGNC:26594)
congenital myasthenic syndrome
(MONDO_0018940)
 Definitive
HGSNAT
(HGNC:26527)
mucopolysaccharidosis type 3C
(MONDO_0009657)
 Definitive
BBS10
(HGNC:26291)
Bardet-Biedl syndrome
(MONDO_0015229)
 Strong
CTC1
(HGNC:26169)
Coats plus syndrome
(MONDO_0012815)
 Strong
CYP27A1
(HGNC:2605)
cerebrotendinous xanthomatosis
(MONDO_0008948)
 Definitive
TMEM127
(HGNC:26038)
pheochromocytoma
(MONDO_0008233)
 Strong
Showing 4781–4800 of 6681