|
BARD1
(HGNC:952)
|
hereditary breast carcinoma
(MONDO_0016419)
|
Moderate
|
|
|
PRF1
(HGNC:9360)
|
familial hemophagocytic lymphohistiocytosis 2
(MONDO_0011337)
|
Definitive
|
|
|
PRKAR1A
(HGNC:9388)
|
Carney complex
(MONDO_0015285)
|
Definitive
|
|
|
NKX3-2
(HGNC:951)
|
spondylo-megaepiphyseal-metaphyseal dysplasia
(MONDO_0013228)
|
Limited
|
|
|
PRKAG2
(HGNC:9386)
|
Wolff-Parkinson-White syndrome
(MONDO_0008685)
|
Definitive
|
|
|
BARD1
(HGNC:952)
|
breast cancer
(MONDO_0007254)
|
Moderate
|
|
|
PSEN2
(HGNC:9509)
|
dilated cardiomyopathy
(MONDO_0005021)
|
Limited
|
|
|
LONP1
(HGNC:9479)
|
CODAS syndrome
(MONDO_0010879)
|
Definitive
|
|
|
PSEN1
(HGNC:9508)
|
Pick disease
(MONDO_0008243)
|
Limited
|
|
|
PSEN1
(HGNC:9508)
|
dilated cardiomyopathy
(MONDO_0005021)
|
Limited
|
|
|
HTRA1
(HGNC:9476)
|
cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2
(MONDO_0014768)
|
Strong
|
|
|
LONP1
(HGNC:9479)
|
Leigh syndrome
(MONDO_0009723)
|
Limited
|
|
|
PRPH
(HGNC:9461)
|
amyotrophic lateral sclerosis
(MONDO_0004976)
|
Limited
|
|
|
LONP1
(HGNC:9479)
|
congenital diaphragmatic hernia
(MONDO_0005711)
|
Moderate
|
|
|
PRSS1
(HGNC:9475)
|
hereditary chronic pancreatitis
(MONDO_0008185)
|
Definitive
|
|
|
PRSS12
(HGNC:9477)
|
autosomal recessive non-syndromic intellectual disability
(MONDO_0019502)
|
Limited
|
|
|
PRPS1
(HGNC:9462)
|
hearing loss, X-linked 1
(MONDO_0010577)
|
Strong
|
|
|
PRKAR1B
(HGNC:9390)
|
Marbach-Schaaf neurodevelopmental syndrome
(MONDO_0859214)
|
Strong
|
|
|
PRPS1
(HGNC:9462)
|
phosphoribosylpyrophosphate synthetase superactivity
(MONDO_0010395)
|
Strong
|
|
|
PRKAG2
(HGNC:9386)
|
hypertrophic cardiomyopathy
(MONDO_0005045)
|
Strong
|
|