|
PC
(HGNC:8636)
|
pyruvate carboxylase deficiency disease
(MONDO_0009949)
|
Definitive
|
|
|
PCDH12
(HGNC:8657)
|
diencephalic-mesencephalic junction dysplasia syndrome 1
(MONDO_0009625)
|
Moderate
|
|
|
PAX8
(HGNC:8622)
|
athyreosis
(MONDO_0019855)
|
Limited
|
|
|
PBX1
(HGNC:8632)
|
congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay
(MONDO_0060549)
|
Strong
|
|
|
PAX6
(HGNC:8620)
|
Peters anomaly
(MONDO_0011414)
|
Moderate
|
|
|
PAX6
(HGNC:8620)
|
aniridia-cerebellar ataxia-intellectual disability syndrome
(MONDO_0008795)
|
Disputed
|
|
|
PAX4
(HGNC:8618)
|
monogenic diabetes
(MONDO_0015967)
|
Moderate
|
|
|
PAX6
(HGNC:8620)
|
diabetes mellitus
(MONDO_0005015)
|
Moderate
|
|
|
PAX4
(HGNC:8618)
|
maturity-onset diabetes of the young type 9
(MONDO_0012818)
|
Limited
|
|
|
PAX2
(HGNC:8616)
|
focal segmental glomerulosclerosis 7
(MONDO_0014451)
|
Moderate
|
|
|
PAX3
(HGNC:8617)
|
Waardenburg syndrome type 3
(MONDO_0007862)
|
Strong
|
|
|
PARN
(HGNC:8609)
|
Hoyeraal-Hreidarsson syndrome
(MONDO_0018045)
|
Moderate
|
|
|
PAX3
(HGNC:8617)
|
craniofacial-deafness-hand syndrome
(MONDO_0007395)
|
Limited
|
|
|
PAX2
(HGNC:8616)
|
renal coloboma syndrome
(MONDO_0007352)
|
Definitive
|
|
|
PAX1
(HGNC:8615)
|
otofaciocervical syndrome 2
(MONDO_0014254)
|
Strong
|
|
|
PARN
(HGNC:8609)
|
dyskeratosis congenita
(MONDO_0015780)
|
Strong
|
|
|
PRKN
(HGNC:8607)
|
young-onset Parkinson disease
(MONDO_0017279)
|
Strong
|
|
|
PRKN
(HGNC:8607)
|
autosomal recessive juvenile Parkinson disease 2
(MONDO_0010820)
|
Definitive
|
|
|
PRKN
(HGNC:8607)
|
Parkinson disease
(MONDO_0005180)
|
Definitive
|
|
|
PAK2
(HGNC:8591)
|
Knobloch syndrome 2
(MONDO_0100119)
|
Moderate
|
|