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
MEFV
(HGNC:6998)
familial Mediterranean fever
(MONDO_0018088)
 Definitive
MEF2C
(HGNC:6996)
intellectual disability, autosomal dominant 20
(MONDO_0013266)
 Strong
MECP2
(HGNC:6990)
non-syndromic X-linked intellectual disability
(MONDO_0019181)
 Moderate
MECP2
(HGNC:6990)
atypical Rett syndrome
(MONDO_0017746)
 Moderate
MECP2
(HGNC:6990)
Rett syndrome
(MONDO_0010726)
 Definitive
MECP2
(HGNC:6990)
severe neonatal-onset encephalopathy with microcephaly
(MONDO_0010397)
 Limited
MECP2
(HGNC:6990)
syndromic X-linked intellectual disability Lubs type
(MONDO_0010283)
 Definitive
MCCC1
(HGNC:6936)
3-methylcrotonyl-CoA carboxylase 1 deficiency
(MONDO_0008861)
 Strong
MECP2
(HGNC:6990)
systemic lupus erythematosus
(MONDO_0007915)
 Moderate
ARL6IP1
(HGNC:697)
hereditary spastic paraplegia
(MONDO_0019064)
 Limited
MAX
(HGNC:6913)
pheochromocytoma
(MONDO_0008233)
 Strong
MC2R
(HGNC:6930)
glucocorticoid deficiency 1
(MONDO_0024536)
 Definitive
MDM2
(HGNC:6973)
Li-Fraumeni syndrome
(MONDO_0018875)
 Limited
MCPH1
(HGNC:6954)
autosomal recessive primary microcephaly
(MONDO_0016660)
 Moderate
MCPH1
(HGNC:6954)
microcephaly 1, primary, autosomal recessive
(MONDO_0009617)
 Strong
PHOX2A
(HGNC:691)
congenital fibrosis of extraocular muscles
(MONDO_0007614)
 Limited
ARL3
(HGNC:694)
retinitis pigmentosa
(MONDO_0019200)
 Moderate
PHOX2A
(HGNC:691)
fibrosis of extraocular muscles, congenital, 2
(MONDO_0011181)
 Moderate
CHST6
(HGNC:6938)
macular corneal dystrophy
(MONDO_0009020)
 Definitive
ARL3
(HGNC:694)
Joubert syndrome
(MONDO_0018772)
 Limited
Showing 881–900 of 6699