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Gene–disease association summaries
Gene–Disease Browser
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| Gene |
Disease |
Score |
Actions |
|
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)
|
Definitive
|
|
|
CTC1
(HGNC:26169)
|
Coats plus syndrome
(MONDO_0012815)
|
Definitive
|
|
|
CYP27A1
(HGNC:2605)
|
cerebrotendinous xanthomatosis
(MONDO_0008948)
|
Definitive
|
|
|
TMEM127
(HGNC:26038)
|
pheochromocytoma
(MONDO_0008233)
|
Strong
|
|
|
SDHAF2
(HGNC:26034)
|
paraganglioma
(MONDO_0000448)
|
Moderate
|
|
|
TMEM127
(HGNC:26038)
|
paraganglioma
(MONDO_0000448)
|
Strong
|
|