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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
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)
Moderate
GNMT
(HGNC:4415)
glycine N-methyltransferase deficiency
(MONDO_0011698)
Limited
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)
Limited
GNAS
(HGNC:4392)
pseudohypoparathyroidism type 1B
(MONDO_0011301)
Strong
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)
Moderate
ALPL
(HGNC:438)
perinatal lethal hypophosphatasia
(MONDO_0016605)
Strong
GNAO1
(HGNC:4389)
developmental and epileptic encephalopathy
(MONDO_0100062)
Strong
GNAO1
(HGNC:4389)
neurodevelopmental disorder with involuntary movements
(MONDO_0060491)
Strong
GNAO1
(HGNC:4389)
developmental and epileptic encephalopathy, 17
(MONDO_0014199)
Strong
Showing 1441–1460 of 6699
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