|
PEX10
(HGNC:8851)
|
peroxisome biogenesis disorder
(MONDO_0019234)
|
Strong
|
|
|
PEX10
(HGNC:8851)
|
peroxisome biogenesis disorder 6B
(MONDO_0013937)
|
Moderate
|
|
|
PEX1
(HGNC:8850)
|
peroxisome biogenesis disorder 1B
(MONDO_0011101)
|
Definitive
|
|
|
SERPINF1
(HGNC:8824)
|
osteogenesis imperfecta type 6
(MONDO_0013515)
|
Definitive
|
|
|
PDYN
(HGNC:8820)
|
spinocerebellar ataxia type 23
(MONDO_0012449)
|
Strong
|
|
|
SLC26A4
(HGNC:8818)
|
autosomal recessive nonsyndromic hearing loss 4
(MONDO_0010933)
|
Definitive
|
|
|
SLC26A4
(HGNC:8818)
|
Pendred syndrome
(MONDO_0010134)
|
Definitive
|
|
|
PDK3
(HGNC:8811)
|
Charcot-Marie-Tooth disease X-linked dominant 6
(MONDO_0010479)
|
Moderate
|
|
|
PDHB
(HGNC:8808)
|
Leigh syndrome
(MONDO_0009723)
|
Limited
|
|
|
PDGFRB
(HGNC:8804)
|
infantile myofibromatosis
(MONDO_0016824)
|
Strong
|
|
|
PDHA1
(HGNC:8806)
|
Leigh syndrome
(MONDO_0009723)
|
Strong
|
|
|
PDGFRB
(HGNC:8804)
|
skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome
(MONDO_0014704)
|
Strong
|
|
|
PDGFRB
(HGNC:8804)
|
acroosteolysis-keloid-like lesions-premature aging syndrome
(MONDO_0011150)
|
Strong
|
|
|
PDGFRA
(HGNC:8803)
|
gastrointestinal stromal tumor
(MONDO_0011719)
|
Definitive
|
|
|
PDGFRA
(HGNC:8803)
|
polyps, multiple and recurrent inflammatory fibroid, gastrointestinal
(MONDO_0008285)
|
Limited
|
|
|
PDE6H
(HGNC:8790)
|
achromatopsia
(MONDO_0018852)
|
Moderate
|
|
|
PDE8B
(HGNC:8794)
|
primary pigmented nodular adrenocortical disease
(MONDO_0015999)
|
Limited
|
|
|
PDE6C
(HGNC:8787)
|
achromatopsia
(MONDO_0018852)
|
Strong
|
|
|
PDE6C
(HGNC:8787)
|
cone dystrophy
(MONDO_0000455)
|
Moderate
|
|
|
PDE6B
(HGNC:8786)
|
congenital stationary night blindness
(MONDO_0016293)
|
Limited
|
|