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
COLEC11
(HGNC:17213)
3MC syndrome
(MONDO_0017398)
 Strong
AGTPBP1
(HGNC:17258)
pontocerebellar hypoplasia type 1
(MONDO_0016396)
 Moderate
POLR1A
(HGNC:17264)
acrofacial dysostosis Cincinnati type
(MONDO_0014651)
 Strong
CHSY1
(HGNC:17198)
temtamy preaxial brachydactyly syndrome
(MONDO_0011533)
 Moderate
DHX37
(HGNC:17210)
46,XY complete gonadal dysgenesis
(MONDO_0010765)
 Strong
ACVR1
(HGNC:171)
congenital heart disease
(MONDO_0005453)
 Limited
NDUFA13
(HGNC:17194)
mitochondrial complex 1 deficiency, nuclear type 28
(MONDO_0032632)
 Strong
CDC14A
(HGNC:1718)
autosomal recessive nonsyndromic hearing loss 32
(MONDO_0012091)
 Moderate
RAB3GAP2
(HGNC:17168)
Warburg micro syndrome 2
(MONDO_0013641)
 Moderate
ORC6
(HGNC:17151)
Meier-Gorlin syndrome
(MONDO_0016817)
 Strong
OPTN
(HGNC:17142)
amyotrophic lateral sclerosis
(MONDO_0004976)
 Strong
CDAN1
(HGNC:1713)
congenital dyserythropoietic anemia
(MONDO_0019403)
 Definitive
CDAN1
(HGNC:1713)
congenital dyserythropoietic anemia type 1
(MONDO_0020337)
 Definitive
ADAMTS17
(HGNC:17109)
Weill-Marchesani 4 syndrome, recessive
(MONDO_0013176)
 Strong
TNPO3
(HGNC:17103)
autosomal dominant limb-girdle muscular dystrophy type 1F
(MONDO_0012034)
 Strong
CDON
(HGNC:17104)
pituitary stalk interruption syndrome
(MONDO_0019828)
 Limited
SUZ12
(HGNC:17101)
Weaver syndrome
(MONDO_0010193)
 Strong
SUZ12
(HGNC:17101)
Imagawa-Matsumoto syndrome
(MONDO_0032916)
 Moderate
DICER1
(HGNC:17098)
global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome
(MONDO_0018445)
 Moderate
RAB3GAP1
(HGNC:17063)
Warburg micro syndrome 1
(MONDO_0010822)
 Strong
Showing 3141–3160 of 6699