DisGeNET - a database of gene-disease associations

MECP2, methyl-CpG binding protein 2, 4204

N. diseases: 664; N. variants: 387

Source: ALL

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

DSI _v

DPI _v

Chr

Position

Consequence

Alleles

Class

AF_EXOME

AF_GENOME

Disease

Disease Class

Score _vda

EI _vda

N. PMIDs

First Ref.

Last Ref.

dbSNP:

rs1557136758

154031215

frameshift variant

-/T

delins

CUI:	C0026827
Disease:	Muscle hypotonia

Muscle hypotonia

Pathological Conditions, Signs and Symptoms; Nervous System Diseases

0.700

1.000

1993

2016

dbSNP:

rs1557137745

154032272

missense variant

C/A

snv

CUI:	C0026827
Disease:	Muscle hypotonia

Muscle hypotonia

Pathological Conditions, Signs and Symptoms; Nervous System Diseases

0.700

1.000

1993

2016

dbSNP:

rs1557137745

154032272

missense variant

C/A

snv

CUI:	C0026650
Disease:	Movement Disorders

Movement Disorders

Nervous System Diseases

0.700

1.000

1993

2016

dbSNP:

rs61752371

154030753

missense variant

A/G

snv

8.3E-05

4.8E-05

CUI:	C0036572
Disease:	Seizures

Seizures

Pathological Conditions, Signs and Symptoms; Nervous System Diseases

0.010

1.000

2002

dbSNP:

rs1569548274

0.701

0.520

154030553

splice acceptor variant

TCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGC/-

delins

CUI:	C2712334
Disease:	Actual Aspiration

Actual Aspiration

0.700

dbSNP:

rs1569548274

0.701

0.520

154030553

splice acceptor variant

delins

CUI:	C0027092
Disease:	Myopia

Myopia

Eye Diseases

0.700

dbSNP:

rs1569548274

0.701

0.520

154030553

splice acceptor variant

delins

CUI:	C0264303
Disease:	Laryngomalacia

Laryngomalacia

Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Respiratory Tract Diseases; Otorhinolaryngologic Diseases

0.700

dbSNP:

rs1569548274

0.701

0.520

154030553

splice acceptor variant

delins

CUI:	C1837142
Disease:	Poor suck

Poor suck

0.700

dbSNP:

rs1569548274

0.701

0.520

154030553

splice acceptor variant

delins

CUI:	C0036572
Disease:	Seizures

Seizures

Pathological Conditions, Signs and Symptoms; Nervous System Diseases

0.700

dbSNP:

rs1569548274

0.701

0.520

154030553

splice acceptor variant

delins

CUI:	C0038450
Disease:	Stridor

Stridor

Pathological Conditions, Signs and Symptoms

0.700

dbSNP:

rs1569548274

0.701

0.520

154030553

splice acceptor variant

delins

CUI:	C4551563
Disease:	Microcephaly (physical finding)

Microcephaly (physical finding)

0.700

dbSNP:

rs1569548274

0.701

0.520

154030553

splice acceptor variant

delins

CUI:	C0575059
Disease:	Spastic tetraparesis

Spastic tetraparesis

Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases

0.700

dbSNP:

rs1569548274

0.701

0.520

154030553

splice acceptor variant

delins

CUI:	C0004106
Disease:	Astigmatism

Astigmatism

Eye Diseases

0.700

dbSNP:

rs1569548274

0.701

0.520

154030553

splice acceptor variant

delins

CUI:	C1963101
Disease:	Encephalopathy, CTCAE 3.0

Encephalopathy, CTCAE 3.0

0.700

dbSNP:

rs1569548274

0.701

0.520

154030553

splice acceptor variant

delins

CUI:	C1866195
Disease:	Downturned corners of mouth

Downturned corners of mouth

0.700

dbSNP:

rs1569548274

0.701

0.520

154030553

splice acceptor variant

delins

CUI:	C4317146
Disease:	Acid reflux

Acid reflux

0.700

dbSNP:

rs1569548274

0.701

0.520

154030553

splice acceptor variant

delins

CUI:	C0423109
Disease:	Upward slant of palpebral fissure

Upward slant of palpebral fissure

0.700

dbSNP:

rs1569548274

0.701

0.520

154030553

splice acceptor variant

delins

CUI:	C1866180
Disease:	Horizontal pendular nystagmus

Horizontal pendular nystagmus

Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases

0.700

dbSNP:

rs1569548274

0.701

0.520

154030553

splice acceptor variant

delins

CUI:	C0013404
Disease:	Dyspnea

Dyspnea

Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases

0.700

dbSNP:

rs1569548274

0.701

0.520

154030553

splice acceptor variant

delins

CUI:	C1142132
Disease:	Carnitine deficiency

Carnitine deficiency

0.700

dbSNP:

rs1569548274

0.701

0.520

154030553

splice acceptor variant

delins

CUI:	C1848395
Disease:	Large for gestational age

Large for gestational age

Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications

0.700

dbSNP:

rs1569548274

0.701

0.520

154030553

splice acceptor variant

delins

CUI:	C0042963
Disease:	Vomiting

Vomiting

Pathological Conditions, Signs and Symptoms

0.700

dbSNP:

rs1569548274

0.701

0.520

154030553

splice acceptor variant

delins

CUI:	C0026827
Disease:	Muscle hypotonia

Muscle hypotonia

Pathological Conditions, Signs and Symptoms; Nervous System Diseases

0.700

dbSNP:

rs1569548274

0.701

0.520

154030553

splice acceptor variant

delins

CUI:	C0240543
Disease:	Bulbous nose

Bulbous nose

0.700

dbSNP:

rs1569548274

0.701

0.520

154030553

splice acceptor variant

delins

CUI:	C0013421
Disease:	Dystonia

Dystonia

Pathological Conditions, Signs and Symptoms; Nervous System Diseases

0.700