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
APEX1
(HGNC:587)
amyotrophic lateral sclerosis
(MONDO_0004976)
 Limited
APC
(HGNC:583)
Cenani-Lenz syndactyly syndrome
(MONDO_0008931)
 Limited
APC
(HGNC:583)
desmoid tumor
(MONDO_0007608)
 Definitive
APC
(HGNC:583)
sarcoma
(MONDO_0005089)
 Disputed
ABCC6
(HGNC:57)
arterial calcification, generalized, of infancy, 2
(MONDO_0013768)
 Limited
AP4S1
(HGNC:575)
hereditary spastic paraplegia 52
(MONDO_0013552)
 Strong
AP4M1
(HGNC:574)
hereditary spastic paraplegia 50
(MONDO_0013048)
 Strong
AP4B1
(HGNC:572)
hereditary spastic paraplegia 47
(MONDO_0013551)
 Strong
AP4E1
(HGNC:573)
hereditary spastic paraplegia 51
(MONDO_0013401)
 Moderate
RBPJ
(HGNC:5724)
Adams-Oliver syndrome
(MONDO_0007034)
 Strong
AP2S1
(HGNC:565)
familial hypocalciuric hypercalcemia 3
(MONDO_0010926)
 Strong
AP1S2
(HGNC:560)
fried syndrome
(MONDO_0019428)
 Moderate
AP1S2
(HGNC:560)
syndromic X-linked intellectual disability 5
(MONDO_0010574)
 Strong
AP1S2
(HGNC:560)
autism spectrum disorder
(MONDO_0005258)
 Limited
AP1B1
(HGNC:554)
MEDNIK syndrome
(MONDO_0012251)
 Moderate
AP1B1
(HGNC:554)
ichthyosiform erythroderma, corneal involvement, and hearing loss
(MONDO_0009440)
 Moderate
IGHMBP2
(HGNC:5542)
Charcot-Marie-Tooth disease axonal type 2S
(MONDO_0014511)
 Strong
IGFBP7
(HGNC:5476)
familial retinal arterial macroaneurysm
(MONDO_0013640)
 Limited
IGFALS
(HGNC:5468)
short stature due to primary acid-labile subunit deficiency
(MONDO_0014420)
 Strong
IGF1R
(HGNC:5465)
growth delay due to insulin-like growth factor I resistance
(MONDO_0010038)
 Strong
Showing 1241–1260 of 6699