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Gene–disease association summaries
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
|
|