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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
TMEM199
(HGNC:18085)
TMEM199-CDG
(MONDO_0014790)
 Moderate
AHSP
(HGNC:18075)
beta thalassemia
(MONDO_0019402)
 Disputed
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)
 Limited
OSGEP
(HGNC:18028)
Galloway-Mowat syndrome
(MONDO_0009627)
 Definitive
BMP2K
(HGNC:18041)
developmental dysplasia of the hip
(MONDO_0000158)
 Limited
NUP160
(HGNC:18017)
steroid-resistant nephrotic syndrome
(MONDO_0044765)
 Strong
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)
 Moderate
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
Showing 6221–6240 of 6681