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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
POU1F1
(HGNC:9210)
panhypopituitarism
(MONDO_0019591)
 Definitive
POLH
(HGNC:9181)
xeroderma pigmentosum
(MONDO_0019600)
 Definitive
POR
(HGNC:9208)
congenital adrenal hyperplasia
(MONDO_0018479)
 Strong
POR
(HGNC:9208)
Antley-Bixler syndrome
(MONDO_0008803)
 Definitive
POR
(HGNC:9208)
congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
(MONDO_0013310)
 Definitive
PHOX2B
(HGNC:9143)
Hirschsprung disease
(MONDO_0018309)
 Moderate
PHOX2B
(HGNC:9143)
central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease
(MONDO_0800026)
 Definitive
PHOX2B
(HGNC:9143)
neuroblastoma
(MONDO_0005072)
 Strong
PMM2
(HGNC:9115)
congenital disorder of glycosylation
(MONDO_0015286)
 Definitive
PLP1
(HGNC:9086)
hereditary spastic paraplegia 2
(MONDO_0010733)
 Strong
PMM2
(HGNC:9115)
PMM2-congenital disorder of glycosylation
(MONDO_0008907)
 Definitive
PML
(HGNC:9113)
acute promyelocytic leukemia
(MONDO_0012883)
 Definitive
ACADS
(HGNC:90)
short chain acyl-CoA dehydrogenase deficiency
(MONDO_0008722)
 Moderate
PLOD1
(HGNC:9081)
Ehlers-Danlos syndrome, kyphoscoliotic type 1
(MONDO_0016002)
 Definitive
PLP1
(HGNC:9086)
Pelizeaus-Merzbacher spectrum disorder
(MONDO_0010714)
 Definitive
PLG
(HGNC:9071)
hereditary angioedema
(MONDO_0019623)
 Strong
PLG
(HGNC:9071)
ligneous conjunctivitis
(MONDO_0100560)
 Strong
PLA2G6
(HGNC:9039)
neurodegeneration with brain iron accumulation
(MONDO_0018307)
 Strong
PLA2G6
(HGNC:9039)
neurodegeneration with brain iron accumulation 2A
(MONDO_0024457)
 Definitive
PKP2
(HGNC:9024)
arrhythmogenic right ventricular cardiomyopathy
(MONDO_0016587)
 Definitive
Showing 4381–4400 of 6681