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
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
Showing 461–480 of 6699