DisGeNET - a database of gene-disease associations

Source: CLINVAR

Gene: MECP2 ×

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

DSI _v

DPI _v

Chr

Position

Consequence

Alleles

Class

AF _EXOME

AF _GENOME

Disease

Score _vda

EI _vda

N_.PMIDs

FirstRef.

LastRef.

dbSNP:

rs1569548274

MECP2

0.701

0.520

154030553

splice acceptor variant

TCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGC/-

delins

CUI:	C0264303
Disease:	Laryngomalacia

Laryngomalacia

0.700

dbSNP:

rs1569548274

MECP2

0.701

0.520

154030553

splice acceptor variant

delins

CUI:	C0004106
Disease:	Astigmatism

Astigmatism

0.700

dbSNP:

rs1569548274

MECP2

0.701

0.520

154030553

splice acceptor variant

delins

CUI:	C4023523
Disease:	Bilateral fetal pyelectasis

Bilateral fetal pyelectasis

0.700

dbSNP:

rs1569548274

MECP2

0.701

0.520

154030553

splice acceptor variant

delins

CUI:	C0151786
Disease:	Muscle Weakness

Muscle Weakness

0.700

dbSNP:

rs1569548274

MECP2

0.701

0.520

154030553

splice acceptor variant

delins

CUI:	C0270922
Disease:	Peripheral demyelinating neuropathy

Peripheral demyelinating neuropathy

0.700

dbSNP:

rs1569548274

MECP2

0.701

0.520

154030553

splice acceptor variant

delins

CUI:	C0011168
Disease:	Deglutition Disorders

Deglutition Disorders

0.700

dbSNP:

rs1569548274

MECP2

0.701

0.520

154030553

splice acceptor variant

delins

CUI:	C0038379
Disease:	Strabismus

Strabismus

0.700

dbSNP:

rs1569548274

MECP2

0.701

0.520

154030553

splice acceptor variant

delins

CUI:	C0700292
Disease:	Hypoxemia

Hypoxemia

0.700

dbSNP:

rs1569548274

MECP2

0.701

0.520

154030553

splice acceptor variant

delins

CUI:	C3810018
Disease:	Bilateral coxa valga

Bilateral coxa valga

0.700

dbSNP:

rs1569548274

MECP2

0.701

0.520

154030553

splice acceptor variant

delins

CUI:	C1837142
Disease:	Poor suck

Poor suck

0.700

dbSNP:

rs1569548274

MECP2

0.701

0.520

154030553

splice acceptor variant

delins

CUI:	C1866195
Disease:	Downturned corners of mouth

Downturned corners of mouth

0.700

dbSNP:

rs1569548274

MECP2

0.701

0.520

154030553

splice acceptor variant

delins

CUI:	C0040822
Disease:	Tremor

Tremor

0.700

dbSNP:

rs1569548274

MECP2

0.701

0.520

154030553

splice acceptor variant

delins

CUI:	C0013404
Disease:	Dyspnea

Dyspnea

0.700

dbSNP:

rs1569548274

MECP2

0.701

0.520

154030553

splice acceptor variant

delins

CUI:	C0026827
Disease:	Muscle hypotonia

Muscle hypotonia

0.700

dbSNP:

rs1569548274

MECP2

0.701

0.520

154030553

splice acceptor variant

delins

CUI:	C0038450
Disease:	Stridor

Stridor

0.700

dbSNP:

rs1569548274

MECP2

0.701

0.520

154030553

splice acceptor variant

delins

CUI:	C0035372
Disease:	Rett Syndrome

Rett Syndrome

0.700

dbSNP:

rs1569548274

MECP2

0.701

0.520

154030553

splice acceptor variant

delins

CUI:	C1963101
Disease:	Encephalopathy, CTCAE 3.0

Encephalopathy, CTCAE 3.0

0.700

dbSNP:

rs1569548274

MECP2

0.701

0.520

154030553

splice acceptor variant

delins

CUI:	C4023343
Disease:	Nasogastric tube feeding in infancy

Nasogastric tube feeding in infancy

0.700

dbSNP:

rs1569548274

MECP2

0.701

0.520

154030553

splice acceptor variant

delins

CUI:	C0027092
Disease:	Myopia

Myopia

0.700

dbSNP:

rs1569548274

MECP2

0.701

0.520

154030553

splice acceptor variant

delins

CUI:	C0240543
Disease:	Bulbous nose

Bulbous nose

0.700

dbSNP:

rs1569548274

MECP2

0.701

0.520

154030553

splice acceptor variant

delins

CUI:	C0042963
Disease:	Vomiting

Vomiting

0.700

dbSNP:

rs28934906

MECP2

0.716

0.320

154031355

missense variant

G/A

snv

CUI:	C0035372
Disease:	Rett Syndrome

Rett Syndrome

0.900

1.000

1999

2017

dbSNP:

rs28934906

MECP2

0.716

0.320

154031355

missense variant

G/A

snv

CUI:	C0026827
Disease:	Muscle hypotonia

Muscle hypotonia

0.700

1.000

1993

2016

dbSNP:

rs28934906

MECP2

0.716

0.320

154031355

missense variant

G/A

snv

CUI:	C1968556
Disease:	ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS

ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS

0.700

1.000

1999

2016

dbSNP:

rs28934906

MECP2

0.716

0.320

154031355

missense variant

G/A

snv

CUI:	C0424605
Disease:	Developmental delay (disorder)

Developmental delay (disorder)

0.700

1.000

2000

2010