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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
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SLC38A3
(HGNC:18044)
developmental and epileptic encephalopathy
(MONDO_0100062)
Moderate
CDX1
(HGNC:1805)
mesenchymal chondrosarcoma
(MONDO_0006853)
Limited
ZFAND3
(HGNC:18019)
type 2 diabetes mellitus
(MONDO_0005148)
Moderate
OSGEP
(HGNC:18028)
Galloway-Mowat syndrome
(MONDO_0009627)
Strong
BMP2K
(HGNC:18041)
developmental dysplasia of the hip
(MONDO_0000158)
Limited
NUP160
(HGNC:18017)
steroid-resistant nephrotic syndrome
(MONDO_0044765)
Moderate
NUP133
(HGNC:18016)
Galloway-Mowat syndrome
(MONDO_0009627)
Moderate
NUP133
(HGNC:18016)
steroid-resistant nephrotic syndrome
(MONDO_0044765)
Moderate
NUDT11
(HGNC:18011)
prostate cancer
(MONDO_0008315)
Limited
B3GALT6
(HGNC:17978)
spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures
(MONDO_0010075)
Strong
ROBO4
(HGNC:17985)
aortic valve disease 3
(MONDO_0032783)
Moderate
RDH11
(HGNC:17964)
retinitis pigmentosa
(MONDO_0019200)
Limited
PSMC3IP
(HGNC:17928)
premature menopause
(MONDO_0001119)
Moderate
SLC45A1
(HGNC:17939)
intellectual disability
(MONDO_0001071)
Moderate
FHOD1
(HGNC:17905)
congenital hypotrichosis with juvenile macular dystrophy
(MONDO_0011107)
Refuted
ACY1
(HGNC:177)
aminoacylase 1 deficiency
(MONDO_0012368)
Moderate
BBC3
(HGNC:17868)
breast cancer
(MONDO_0007254)
Limited
STK38L
(HGNC:17848)
Kallmann syndrome
(MONDO_0018800)
Limited
STK38L
(HGNC:17848)
intellectual disability
(MONDO_0001071)
Limited
ACBD7
(HGNC:17715)
anorexia nervosa
(MONDO_0005351)
Limited
Showing 6241–6260 of 6699
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