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Stats

Total associations
6681
Unique genes
4239
Unique diseases
3297
Gene–disease association summaries
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Gene–Disease Browser

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Gene Disease Score Actions
CORO1A
(HGNC:2252)
severe combined immunodeficiency due to CORO1A deficiency
(MONDO_0014168)
 Strong
COMP
(HGNC:2227)
multiple epiphyseal dysplasia type 1
(MONDO_0007561)
 Strong
KIAA1549
(HGNC:22219)
retinitis pigmentosa
(MONDO_0019200)
 Moderate
COLEC10
(HGNC:2220)
3MC syndrome 3
(MONDO_0009554)
 Moderate
COLEC10
(HGNC:2220)
3MC syndrome
(MONDO_0017398)
 Moderate
COL7A1
(HGNC:2214)
pretibial dystrophic epidermolysis bullosa
(MONDO_0007552)
 Moderate
COL9A3
(HGNC:2219)
Stickler syndrome
(MONDO_0019354)
 Strong
AP5Z1
(HGNC:22197)
hereditary spastic paraplegia 48
(MONDO_0013342)
 Moderate
COL9A2
(HGNC:2218)
Stickler syndrome
(MONDO_0019354)
 Strong
COL9A1
(HGNC:2217)
Stickler syndrome
(MONDO_0019354)
 Strong
COL8A2
(HGNC:2216)
posterior polymorphous corneal dystrophy
(MONDO_0020364)
 Disputed
COL8A2
(HGNC:2216)
Fuchs' endothelial dystrophy
(MONDO_0005321)
 Moderate
COL7A1
(HGNC:2214)
recessive dystrophic epidermolysis bullosa inversa
(MONDO_0019310)
 Strong
COL7A1
(HGNC:2214)
dystrophic epidermolysis bullosa, nails only
(MONDO_0015553)
 Moderate
COL7A1
(HGNC:2214)
dystrophic epidermolysis bullosa pruriginosa
(MONDO_0011398)
 Definitive
COL7A1
(HGNC:2214)
recessive dystrophic epidermolysis bullosa
(MONDO_0009179)
 Definitive
COL7A1
(HGNC:2214)
transient bullous dermolysis of the newborn
(MONDO_0007548)
 Strong
COL6A2
(HGNC:2212)
Ullrich congenital muscular dystrophy 1A
(MONDO_0009681)
 Strong
COL5A2
(HGNC:2210)
Ehlers-Danlos syndrome
(MONDO_0020066)
 Definitive
COL5A2
(HGNC:2210)
Ehlers-Danlos syndrome, classic type
(MONDO_0007522)
 Strong
Showing 2561–2580 of 6681