|
POU3F4
(HGNC:9217)
|
X-linked mixed hearing loss with perilymphatic gusher
(MONDO_0010576)
|
Strong
|
|
|
POU3F3
(HGNC:9216)
|
snijders blok-fisher syndrome
(MONDO_0032830)
|
Definitive
|
|
|
PON3
(HGNC:9206)
|
amyotrophic lateral sclerosis
(MONDO_0004976)
|
Limited
|
|
|
POMC
(HGNC:9201)
|
obesity due to pro-opiomelanocortin deficiency
(MONDO_0012335)
|
Definitive
|
|
|
PON2
(HGNC:9205)
|
amyotrophic lateral sclerosis
(MONDO_0004976)
|
Disputed
|
|
|
POMT1
(HGNC:9202)
|
muscle-eye-brain disease
(MONDO_0018939)
|
Moderate
|
|
|
PON1
(HGNC:9204)
|
amyotrophic lateral sclerosis
(MONDO_0004976)
|
Disputed
|
|
|
POMT1
(HGNC:9202)
|
muscular dystrophy-dystroglycanopathy, type A
(MONDO_0000171)
|
Definitive
|
|
|
POLH
(HGNC:9181)
|
xeroderma pigmentosum variant type
(MONDO_0010214)
|
Definitive
|
|
|
POMT1
(HGNC:9202)
|
autosomal recessive limb-girdle muscular dystrophy type 2K
(MONDO_0012248)
|
Moderate
|
|
|
POMC
(HGNC:9201)
|
inherited obesity
(MONDO_0019182)
|
Moderate
|
|
|
ACADSB
(HGNC:91)
|
2-methylbutyryl-CoA dehydrogenase deficiency
(MONDO_0012392)
|
Strong
|
|
|
POLG
(HGNC:9179)
|
recessive mitochondrial ataxia syndrome
(MONDO_0019791)
|
Strong
|
|
|
POLG2
(HGNC:9180)
|
autosomal dominant progressive external ophthalmoplegia
(MONDO_0008003)
|
Moderate
|
|
|
POLG2
(HGNC:9180)
|
mitochondrial DNA depletion syndrome
(MONDO_0018158)
|
Limited
|
|
|
POLG
(HGNC:9179)
|
Leigh syndrome
(MONDO_0009723)
|
Moderate
|
|
|
POLG
(HGNC:9179)
|
mitochondrial DNA depletion syndrome 4a
(MONDO_0008758)
|
Definitive
|
|
|
POLG
(HGNC:9179)
|
autosomal dominant progressive external ophthalmoplegia
(MONDO_0008003)
|
Strong
|
|
|
POLG
(HGNC:9179)
|
mitochondrial neurogastrointestinal encephalomyopathy
(MONDO_0017575)
|
Moderate
|
|
|
POLE
(HGNC:9177)
|
intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency
(MONDO_0032684)
|
Limited
|
|