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
ALG13
(HGNC:30881)
developmental and epileptic encephalopathy
(MONDO_0100062)
 Strong
PDGFD
(HGNC:30620)
pulmonary arterial hypertension
(MONDO_0015924)
 Limited
ALG13
(HGNC:30881)
non-syndromic X-linked intellectual disability
(MONDO_0019181)
 Limited
ALG13
(HGNC:30881)
developmental and epileptic encephalopathy, 36
(MONDO_0010472)
 Strong
SNRNP200
(HGNC:30859)
retinitis pigmentosa
(MONDO_0019200)
 Strong
POC1B
(HGNC:30836)
cone-rod dystrophy
(MONDO_0015993)
 Strong
TRAPPC9
(HGNC:30832)
autosomal recessive non-syndromic intellectual disability
(MONDO_0019502)
 Strong
TUBB2B
(HGNC:30829)
congenital fibrosis of extraocular muscles
(MONDO_0007614)
 Moderate
CEP57
(HGNC:30794)
mosaic variegated aneuploidy syndrome 2
(MONDO_0013582)
 Strong
TM9SF4
(HGNC:30797)
autism spectrum disorder
(MONDO_0005258)
 Limited
CEP57
(HGNC:30794)
mosaic variegated aneuploidy syndrome
(MONDO_0000141)
 Strong
GATAD2B
(HGNC:30778)
severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
(MONDO_0014034)
 Strong
TMEM165
(HGNC:30760)
TMEM165-congenital disorder of glycosylation
(MONDO_0013870)
 Strong
DUSP6
(HGNC:3072)
Kallmann syndrome
(MONDO_0018800)
 Limited
DUSP6
(HGNC:3072)
hypogonadotropic hypogonadism
(MONDO_0018555)
 Limited
PPP1R21
(HGNC:30595)
neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities
(MONDO_0859165)
 Moderate
DNAJB13
(HGNC:30718)
primary ciliary dyskinesia
(MONDO_0016575)
 Limited
TSHZ3
(HGNC:30700)
congenital anomaly of kidney and urinary tract
(MONDO_0019719)
 Moderate
DTYMK
(HGNC:3061)
mitochondrial DNA depletion syndrome
(MONDO_0018158)
 Limited
UBA2
(HGNC:30661)
ACCES syndrome
(MONDO_0859262)
 Moderate
Showing 1901–1920 of 6699