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
PDE6A
(HGNC:8785)
retinitis pigmentosa
(MONDO_0019200)
 Definitive
PDE4D
(HGNC:8783)
acrodysostosis
(MONDO_0019797)
 Strong
PDE3A
(HGNC:8778)
brachydactyly-arterial hypertension syndrome
(MONDO_0007211)
 Strong
PDE2A
(HGNC:8777)
intellectual developmental disorder with paroxysmal dyskinesia or seizures
(MONDO_0030900)
 Moderate
AIFM1
(HGNC:8768)
Charcot-Marie-Tooth disease X-linked recessive 4
(MONDO_0010689)
 Strong
PDE11A
(HGNC:8773)
primary pigmented nodular adrenocortical disease
(MONDO_0015999)
 Limited
PDCD10
(HGNC:8761)
famililal cerebral cavernous malformations
(MONDO_0031037)
 Strong
AIFM1
(HGNC:8768)
spondyloepimetaphyseal dysplasia, Bieganski type
(MONDO_0010275)
 Strong
PAX4
(HGNC:8618)
maturity-onset diabetes of the young
(MONDO_0018911)
 Moderate
PDCD10
(HGNC:8761)
cerebral cavernous malformation 3
(MONDO_0011305)
 Strong
PCYT1A
(HGNC:8754)
spondylometaphyseal dysplasia-cone-rod dystrophy syndrome
(MONDO_0012160)
 Moderate
PDCD1
(HGNC:8760)
systemic lupus erythematosus
(MONDO_0007915)
 Moderate
CHMP1A
(HGNC:8740)
pontocerebellar hypoplasia type 8
(MONDO_0013990)
 Limited
ATP7A
(HGNC:869)
Hirschsprung disease
(MONDO_0018309)
 Limited
PCK1
(HGNC:8724)
phosphoenolpyruvate carboxykinase deficiency
(MONDO_0017320)
 Strong
PAX6
(HGNC:8620)
autosomal dominant keratitis
(MONDO_0007848)
 Limited
PCK1
(HGNC:8724)
phosphoenolpyruvate carboxykinase deficiency, cytosolic
(MONDO_0009866)
 Strong
ATP6V0A4
(HGNC:866)
autosomal recessive distal renal tubular acidosis
(MONDO_0018440)
 Definitive
ATP7A
(HGNC:869)
X-linked distal spinal muscular atrophy type 3
(MONDO_0010338)
 Limited
PCDH12
(HGNC:8657)
diencephalic-mesencephalic junction dysplasia
(MONDO_0017868)
 Strong
Showing 481–500 of 6699