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
MCCC1
(HGNC:6936)
3-methylcrotonyl-CoA carboxylase deficiency
(MONDO_0018950)
 Definitive
MC4R
(HGNC:6932)
inherited obesity
(MONDO_0019182)
 Definitive
MC4R
(HGNC:6932)
obesity due to melanocortin 4 receptor deficiency
(MONDO_0019115)
 Strong
MATR3
(HGNC:6912)
distal myopathy with vocal cord weakness
(MONDO_0018951)
 Limited
MASP1
(HGNC:6901)
3MC syndrome
(MONDO_0017398)
 Strong
MAT1A
(HGNC:6903)
methionine adenosyltransferase deficiency
(MONDO_0009607)
 Definitive
ABCD4
(HGNC:68)
methylmalonic acidemia with homocystinuria, type cblJ
(MONDO_0013925)
 Moderate
MATN3
(HGNC:6909)
multiple epiphyseal dysplasia type 5
(MONDO_0011765)
 Strong
MARS1
(HGNC:6898)
severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
(MONDO_0014206)
 Moderate
MARS1
(HGNC:6898)
Charcot-Marie-Tooth disease axonal type 2U
(MONDO_0014566)
 Limited
MAPT
(HGNC:6893)
semantic dementia
(MONDO_0010857)
 Limited
MAPT
(HGNC:6893)
Pick disease
(MONDO_0008243)
 Strong
MAPKAPK5
(HGNC:6889)
neurocardiofaciodigital syndrome
(MONDO_0859247)
 Moderate
MAPKAPK3
(HGNC:6888)
patterned macular dystrophy 3
(MONDO_0014920)
 Limited
ARHGEF6
(HGNC:685)
X-linked intellectual disability
(MONDO_0100284)
 Limited
ARHGEF6
(HGNC:685)
congenital anomaly of kidney and urinary tract
(MONDO_0019719)
 Moderate
MAP3K7
(HGNC:6859)
frontometaphyseal dysplasia 2
(MONDO_0014935)
 Moderate
MAP3K7
(HGNC:6859)
frontometaphyseal dysplasia
(MONDO_0015942)
 Strong
MAP3K7
(HGNC:6859)
cardiospondylocarpofacial syndrome
(MONDO_0008005)
 Strong
MAP3K6
(HGNC:6858)
hereditary diffuse gastric adenocarcinoma
(MONDO_0007648)
 Disputed
Showing 901–920 of 6699