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Stats

Total associations
6681
Unique genes
4239
Unique diseases
3297
Gene–disease association summaries
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Gene–Disease Browser

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Gene Disease Score Actions
GP1BA
(HGNC:4439)
autosomal dominant macrothrombocytopenia
(MONDO_0015372)
 Strong
GOSR2
(HGNC:4431)
progressive myoclonic epilepsy type 6
(MONDO_0013526)
 Strong
GNRHR
(HGNC:4421)
hypogonadotropic hypogonadism 7 with or without anosmia
(MONDO_0007794)
 Strong
GNRH1
(HGNC:4419)
hypogonadotropic hypogonadism
(MONDO_0018555)
 Moderate
GNPAT
(HGNC:4416)
rhizomelic chondrodysplasia punctata type 2
(MONDO_0009112)
 Strong
GNB5
(HGNC:4401)
gnb5-related intellectual disability-cardiac arrhythmia syndrome
(MONDO_0014953)
 Strong
GNMT
(HGNC:4415)
glycine N-methyltransferase deficiency
(MONDO_0011698)
 Moderate
GNB3
(HGNC:4400)
congenital stationary night blindness
(MONDO_0016293)
 Moderate
GNAT2
(HGNC:4394)
achromatopsia
(MONDO_0018852)
 Strong
GNAS
(HGNC:4392)
McCune-Albright syndrome
(MONDO_0018919)
 Definitive
GNAS
(HGNC:4392)
pseudopseudohypoparathyroidism
(MONDO_0012912)
 Definitive
GNAS
(HGNC:4392)
pseudohypoparathyroidism type 1C
(MONDO_0012911)
 Moderate
GNAS
(HGNC:4392)
pseudohypoparathyroidism type 1B
(MONDO_0011301)
 Definitive
GNAS
(HGNC:4392)
progressive osseous heteroplasia
(MONDO_0008153)
 Definitive
GNAS
(HGNC:4392)
pseudohypoparathyroidism type 1A
(MONDO_0007078)
 Definitive
GNAQ
(HGNC:4390)
Sturge-Weber syndrome
(MONDO_0008501)
 Definitive
GNAQ
(HGNC:4390)
congenital hemangioma
(MONDO_0018715)
 Limited
ALPL
(HGNC:438)
odontohypophosphatasia
(MONDO_0016607)
 Strong
ALPL
(HGNC:438)
perinatal lethal hypophosphatasia
(MONDO_0016605)
 Definitive
GNAO1
(HGNC:4389)
developmental and epileptic encephalopathy
(MONDO_0100062)
 Strong
Showing 1421–1440 of 6681