Stats

Total associations
6699
Unique genes
4252
Unique diseases
3300
Gene–disease association summaries
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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
Showing 4801–4820 of 6699