|
SLC26A5
(HGNC:9359)
|
autosomal recessive nonsyndromic hearing loss 61
(MONDO_0013471)
|
Moderate
|
|
|
PRF1
(HGNC:9360)
|
hereditary hemophagocytic lymphohistiocytosis
(MONDO_0015541)
|
Definitive
|
|
|
PRDX1
(HGNC:9352)
|
methylmalonic aciduria and homocystinuria type cblC
(MONDO_0010184)
|
Moderate
|
|
|
PPP2R5D
(HGNC:9312)
|
syndromic intellectual disability
(MONDO_0000508)
|
Strong
|
|
|
PRDM5
(HGNC:9349)
|
Axenfeld-Rieger syndrome
(MONDO_0019187)
|
Limited
|
|
|
PRDX3
(HGNC:9354)
|
spinocerebellar ataxia, autosomal recessive 32
(MONDO_0859245)
|
Moderate
|
|
|
PPP3CC
(HGNC:9316)
|
schizophrenia
(MONDO_0005090)
|
Limited
|
|
|
PRDM5
(HGNC:9349)
|
brittle cornea syndrome 2
(MONDO_0013605)
|
Moderate
|
|
|
PPP3CA
(HGNC:9314)
|
developmental and epileptic encephalopathy 91
(MONDO_0020630)
|
Strong
|
|
|
PPP2R2B
(HGNC:9305)
|
spinocerebellar ataxia type 12
(MONDO_0011439)
|
Strong
|
|
|
PPP1CB
(HGNC:9282)
|
Noonan syndrome-like disorder with loose anagen hair 2
(MONDO_0054588)
|
Moderate
|
|
|
B4GALT7
(HGNC:930)
|
Ehlers-Danlos syndrome, spondylodysplastic type, 1
(MONDO_0020682)
|
Strong
|
|
|
PDP1
(HGNC:9279)
|
pyruvate dehydrogenase phosphatase deficiency
(MONDO_0012120)
|
Moderate
|
|
|
PPM1D
(HGNC:9277)
|
hereditary breast carcinoma
(MONDO_0016419)
|
Limited
|
|
|
PPP1CB
(HGNC:9282)
|
Noonan syndrome-like disorder with loose anagen hair
(MONDO_0011899)
|
Strong
|
|
|
PPM1D
(HGNC:9277)
|
intellectual developmental disorder with gastrointestinal difficulties and high pain threshold
(MONDO_0044318)
|
Strong
|
|
|
PPARG
(HGNC:9236)
|
PPARG-related familial partial lipodystrophy
(MONDO_0011448)
|
Strong
|
|
|
B4GALT1
(HGNC:924)
|
B4GALT1-congenital disorder of glycosylation
(MONDO_0011772)
|
Moderate
|
|
|
POU4F3
(HGNC:9220)
|
autosomal dominant nonsyndromic hearing loss
(MONDO_0019587)
|
Strong
|
|
|
POU4F3
(HGNC:9220)
|
autosomal dominant nonsyndromic hearing loss 15
(MONDO_0011226)
|
Definitive
|
|