Stats
Gene–disease association summaries
Gene–Disease Browser
Need updated, customized, evidence‑backed summaries?
Get it from the leaders in AI‑powered, evidence‑backed summaries provider.
| Gene |
Disease |
Score |
Actions |
|
RHO
(HGNC:10012)
|
congenital stationary night blindness
(MONDO_0016293)
|
Moderate
|
|
|
RHAG
(HGNC:10006)
|
overhydrated hereditary stomatocytosis
(MONDO_0008493)
|
Limited
|
|
|
RGS9
(HGNC:10004)
|
bradyopsia
(MONDO_0012033)
|
Moderate
|
|
|
RDH5
(HGNC:9940)
|
fundus albipunctatus
(MONDO_0007639)
|
Definitive
|
|
|
RBM10
(HGNC:9896)
|
TARP syndrome
(MONDO_0010711)
|
Definitive
|
|
|
RASA1
(HGNC:9871)
|
capillary malformation-arteriovenous malformation syndrome
(MONDO_0012016)
|
Definitive
|
|
|
BCKDHB
(HGNC:987)
|
maple syrup urine disease
(MONDO_0009563)
|
Definitive
|
|
|
RAI1
(HGNC:9834)
|
Smith-Magenis syndrome
(MONDO_0008434)
|
Definitive
|
|
|
RARA
(HGNC:9864)
|
acute promyelocytic leukemia
(MONDO_0012883)
|
Definitive
|
|
|
RAG2
(HGNC:9832)
|
severe combined immunodeficiency
(MONDO_0015974)
|
Definitive
|
|
|
RAG1
(HGNC:9831)
|
severe combined immunodeficiency
(MONDO_0015974)
|
Definitive
|
|
|
RAG1
(HGNC:9831)
|
Omenn syndrome
(MONDO_0011338)
|
Definitive
|
|
|
RAD21
(HGNC:9811)
|
Cornelia de Lange syndrome
(MONDO_0016033)
|
Strong
|
|
|
RAB27A
(HGNC:9766)
|
Griscelli syndrome
(MONDO_0018306)
|
Definitive
|
|
|
RAB27A
(HGNC:9766)
|
hemophagocytic syndrome
(MONDO_0015540)
|
Definitive
|
|
|
RAB27A
(HGNC:9766)
|
Griscelli syndrome type 2
(MONDO_0011872)
|
Definitive
|
|
|
QDPR
(HGNC:9752)
|
dihydropteridine reductase deficiency
(MONDO_0009862)
|
Definitive
|
|
|
PYGM
(HGNC:9726)
|
glycogen storage disease V
(MONDO_0009293)
|
Definitive
|
|
|
ALDH18A1
(HGNC:9722)
|
cutis laxa
(MONDO_0016175)
|
Strong
|
|
|
CAVIN1
(HGNC:9688)
|
congenital generalized lipodystrophy type 4
(MONDO_0013225)
|
Strong
|
|