|
POLG
(HGNC:9179)
|
autosomal recessive progressive external ophthalmoplegia
(MONDO_0016810)
|
Moderate
|
|
|
POLG
(HGNC:9179)
|
spinocerebellar ataxia with epilepsy
(MONDO_0016809)
|
Moderate
|
|
|
POLG
(HGNC:9179)
|
sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
(MONDO_0011835)
|
Strong
|
|
|
POLA1
(HGNC:9173)
|
X-linked reticulate pigmentary disorder
(MONDO_0010523)
|
Strong
|
|
|
POLD1
(HGNC:9175)
|
mandibular hypoplasia-deafness-progeroid syndrome
(MONDO_0014157)
|
Strong
|
|
|
POLE
(HGNC:9177)
|
IMAGe syndrome
(MONDO_0013873)
|
Strong
|
|
|
POLA1
(HGNC:9173)
|
X-linked intellectual disability, van Esch type
(MONDO_0015601)
|
Moderate
|
|
|
POLE
(HGNC:9177)
|
facial dysmorphism-immunodeficiency-livedo-short stature syndrome
(MONDO_0014058)
|
Limited
|
|
|
PNLIP
(HGNC:9155)
|
pancreatic triacylglycerol lipase deficiency
(MONDO_0013700)
|
Moderate
|
|
|
PNKP
(HGNC:9154)
|
ataxia - oculomotor apraxia type 4
(MONDO_0014557)
|
Moderate
|
|
|
PNKP
(HGNC:9154)
|
microcephaly, seizures, and developmental delay
(MONDO_0013254)
|
Strong
|
|
|
PNKD
(HGNC:9153)
|
Tourette syndrome
(MONDO_0007661)
|
Limited
|
|
|
PHOX2B
(HGNC:9143)
|
Haddad syndrome
(MONDO_0020493)
|
Strong
|
|
|
B2M
(HGNC:914)
|
MHC class I deficiency
(MONDO_0011476)
|
Moderate
|
|
|
PRRX1
(HGNC:9142)
|
craniosynostosis
(MONDO_0015469)
|
Moderate
|
|
|
EXOSC9
(HGNC:9137)
|
pontocerebellar hypoplasia type 1
(MONDO_0016396)
|
Moderate
|
|
|
PMS2
(HGNC:9122)
|
mismatch repair cancer syndrome 1
(MONDO_0010159)
|
Strong
|
|
|
PMS2
(HGNC:9122)
|
hereditary breast carcinoma
(MONDO_0016419)
|
Limited
|
|
|
PMS2
(HGNC:9122)
|
ovarian cancer
(MONDO_0008170)
|
Moderate
|
|
|
PMS2
(HGNC:9122)
|
prostate cancer
(MONDO_0008315)
|
Limited
|
|