Stats

Total associations
6699
Unique genes
4252
Unique diseases
3300
Gene–disease association summaries
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Gene–Disease Browser

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Gene Disease Score Actions
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
Showing 321–340 of 6699