|
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
|
|
|
PKLR
(HGNC:9020)
|
pyruvate kinase deficiency of red cells
(MONDO_0009950)
|
Definitive
|
|
|
PKD2
(HGNC:9009)
|
autosomal dominant polycystic kidney disease
(MONDO_0004691)
|
Definitive
|
|