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
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
Showing 4361–4380 of 6699