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
EVC
(HGNC:3497)
acrofacial dysostosis, Weyers type
(MONDO_0008673)
 Limited
ETV6
(HGNC:3495)
thrombocytopenia 5
(MONDO_0014536)
 Strong
AHR
(HGNC:348)
foveal hypoplasia
(MONDO_0044203)
 Limited
ETS1
(HGNC:3488)
systemic lupus erythematosus
(MONDO_0007915)
 Strong
ETS1
(HGNC:3488)
congenital heart disease
(MONDO_0005453)
 Limited
ETFB
(HGNC:3482)
multiple acyl-CoA dehydrogenase deficiency
(MONDO_0009282)
 Strong
ESRRB
(HGNC:3473)
autosomal recessive nonsyndromic hearing loss 35
(MONDO_0012060)
 Moderate
ESR1
(HGNC:3467)
estrogen resistance syndrome
(MONDO_0014148)
 Moderate
ESR2
(HGNC:3468)
familial medullary thyroid carcinoma
(MONDO_0007958)
 Limited
ERF
(HGNC:3444)
Chitayat syndrome
(MONDO_0014956)
 Strong
ERF
(HGNC:3444)
craniosynostosis 4
(MONDO_0010929)
 Limited
ERCC8
(HGNC:3439)
Cockayne syndrome type 2
(MONDO_0019570)
 Moderate
ERCC8
(HGNC:3439)
Cockayne syndrome type 1
(MONDO_0019569)
 Strong
ERCC8
(HGNC:3439)
UV-sensitive syndrome
(MONDO_0015797)
 Moderate
ERCC6
(HGNC:3438)
Cockayne syndrome type 2
(MONDO_0019570)
 Strong
ERCC6
(HGNC:3438)
UV-sensitive syndrome
(MONDO_0015797)
 Moderate
ERCC6
(HGNC:3438)
COFS syndrome
(MONDO_0008926)
 Moderate
PCARE
(HGNC:34383)
retinitis pigmentosa
(MONDO_0019200)
 Strong
ERCC5
(HGNC:3437)
xeroderma pigmentosum
(MONDO_0019600)
 Definitive
ERCC5
(HGNC:3437)
xeroderma pigmentosum-Cockayne syndrome complex
(MONDO_0016354)
 Strong
Showing 1761–1780 of 6699