|
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
|
|