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
TAF6
(HGNC:11540)
Cornelia de Lange syndrome
(MONDO_0016033)
 Limited
TALDO1
(HGNC:11559)
transaldolase deficiency
(MONDO_0011624)
 Strong
SVIL
(HGNC:11480)
hypertrophic cardiomyopathy
(MONDO_0005045)
 Limited
TAF6
(HGNC:11540)
Wiedemann-Steiner syndrome
(MONDO_0011518)
 Limited
VAMP7
(HGNC:11486)
Rett syndrome
(MONDO_0010726)
 Refuted
STX16
(HGNC:11431)
pseudohypoparathyroidism
(MONDO_0019992)
 Moderate
STX3
(HGNC:11438)
microvillus inclusion disease
(MONDO_0009635)
 Strong
SUCLG2
(HGNC:11450)
multiple acyl-CoA dehydrogenase deficiency
(MONDO_0009282)
 Limited
SRPK3
(HGNC:11402)
X-linked intellectual disability
(MONDO_0100284)
 Moderate
STK24
(HGNC:11403)
keratoconus
(MONDO_0015486)
 Limited
SS18
(HGNC:11340)
synovial sarcoma
(MONDO_0010434)
 Definitive
SSX1
(HGNC:11335)
synovial sarcoma
(MONDO_0010434)
 Strong
SSR3
(HGNC:11325)
congenital disorder of glycosylation
(MONDO_0015286)
 Limited
SSR4
(HGNC:11326)
congenital disorder of glycosylation
(MONDO_0015286)
 Strong
SRP72
(HGNC:11303)
acute myeloid leukemia
(MONDO_0018874)
 Limited
SRPK2
(HGNC:11306)
atrial septal defect
(MONDO_0006664)
 Disputed
SRPK2
(HGNC:11306)
congenital heart disease
(MONDO_0005453)
 Disputed
SPRR2B
(HGNC:11262)
atopic eczema
(MONDO_0004980)
 Limited
SRP72
(HGNC:11303)
myelodysplastic syndrome
(MONDO_0018881)
 Limited
SRP72
(HGNC:11303)
aplastic anemia
(MONDO_0015909)
 Limited
Showing 6601–6620 of 6699