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
RAPGEF2
(HGNC:16854)
benign adult familial myoclonic epilepsy
(MONDO_0019448)
 Limited
TM4SF4
(HGNC:11856)
cholelithiasis
(MONDO_0012672)
 Moderate
BMP7
(HGNC:1074)
hypospadias
(MONDO_0005345)
 Limited
RPL27
(HGNC:10328)
Diamond-Blackfan anemia
(MONDO_0015253)
 Limited
RFXANK
(HGNC:9987)
MHC class II deficiency
(MONDO_0008855)
 Definitive
RFXAP
(HGNC:9988)
MHC class II deficiency
(MONDO_0008855)
 Strong
RFX5
(HGNC:9986)
MHC class II deficiency
(MONDO_0008855)
 Strong
RFX3
(HGNC:9984)
autism spectrum disorder
(MONDO_0005258)
 Moderate
RFX2
(HGNC:9983)
cerebral palsy
(MONDO_0006497)
 Limited
RFC1
(HGNC:9969)
cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome
(MONDO_0044720)
 Strong
RET
(HGNC:9967)
Hirschsprung disease
(MONDO_0018309)
 Strong
REV3L
(HGNC:9968)
Mobius syndrome
(MONDO_0008006)
 Limited
RET
(HGNC:9967)
renal agenesis, unilateral
(MONDO_0019636)
 Limited
RET
(HGNC:9967)
multiple endocrine neoplasia type 2A
(MONDO_0008234)
 Definitive
RET
(HGNC:9967)
pheochromocytoma
(MONDO_0008233)
 Definitive
RET
(HGNC:9967)
familial medullary thyroid carcinoma
(MONDO_0007958)
 Definitive
RET
(HGNC:9967)
multiple endocrine neoplasia type 2B
(MONDO_0008082)
 Definitive
RET
(HGNC:9967)
Hirschsprung disease, susceptibility to, 1
(MONDO_0007723)
 Definitive
REST
(HGNC:9966)
hereditary gingival fibromatosis
(MONDO_0016070)
 Strong
RERE
(HGNC:9965)
neurodevelopmental disorder with or without anomalies of the brain, eye, or heart
(MONDO_0014857)
 Strong
Showing 121–140 of 6699