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
OPN1LW
(HGNC:9936)
blue cone monochromacy
(MONDO_0010563)
 Strong
PRPH2
(HGNC:9942)
adult-onset foveomacular vitelliform dystrophy
(MONDO_0011979)
 Moderate
RBM8A
(HGNC:9905)
thrombocytopenia-absent radius syndrome
(MONDO_0010121)
 Definitive
RBBP8
(HGNC:9891)
Seckel syndrome
(MONDO_0019342)
 Moderate
RBBP8
(HGNC:9891)
Jawad syndrome
(MONDO_0009622)
 Strong
KDM5A
(HGNC:9886)
congenital heart disease
(MONDO_0005453)
 Limited
RBP3
(HGNC:9921)
retinitis pigmentosa
(MONDO_0019200)
 Limited
RB1
(HGNC:9884)
retinoblastoma
(MONDO_0008380)
 Definitive
RB1
(HGNC:9884)
hereditary retinoblastoma
(MONDO_0018160)
 Definitive
RB1
(HGNC:9884)
melanoma
(MONDO_0005105)
 Limited
RASAL1
(HGNC:9873)
breast cancer
(MONDO_0007254)
 Limited
RASA2
(HGNC:9872)
Noonan syndrome
(MONDO_0018997)
 Limited
RARB
(HGNC:9865)
microphthalmia, syndromic 12
(MONDO_0014229)
 Strong
BCKDHA
(HGNC:986)
maple syrup urine disease
(MONDO_0009563)
 Definitive
RARB
(HGNC:9865)
Matthew-Wood syndrome
(MONDO_0011010)
 Moderate
RAPSN
(HGNC:9863)
postsynaptic congenital myasthenic syndrome
(MONDO_0020344)
 Definitive
RAPSN
(HGNC:9863)
fetal akinesia deformation sequence 1
(MONDO_0100101)
 Moderate
RANBP2
(HGNC:9848)
familial acute necrotizing encephalopathy
(MONDO_0011953)
 Strong
BCHE
(HGNC:983)
butyrylcholinesterase deficiency
(MONDO_0015270)
 Definitive
RAI1
(HGNC:9834)
Potocki-Lupski syndrome
(MONDO_0012574)
 Strong
Showing 161–180 of 6699