DisGeNET - a database of gene-disease associations

MECP2, methyl-CpG binding protein 2, 4204

N. diseases: 90; N. variants: 362

Source: CURATED ×

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:

rs1569548274

0.701

0.520

154030553

splice acceptor variant

TCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGC/-

delins

CUI:	C0231528
Disease:	Myalgia

Myalgia

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

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:	C1866195
Disease:	Downturned corners of mouth

Downturned corners of mouth

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:	C0003862
Disease:	Arthralgia

Arthralgia

Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases

0.700

dbSNP:

rs1569548274

0.701

0.520

154030553

splice acceptor variant

delins

CUI:	C0151786
Disease:	Muscle Weakness

Muscle Weakness

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

0.700

dbSNP:

rs1569548274

0.701

0.520

154030553

splice acceptor variant

delins

CUI:	C0014877
Disease:	Esotropia

Esotropia

Eye Diseases; Nervous System Diseases

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:	C0038450
Disease:	Stridor

Stridor

Pathological Conditions, Signs and Symptoms

0.700

dbSNP:

rs1569548274

0.701

0.520

154030553

splice acceptor variant

delins

CUI:	C0040822
Disease:	Tremor

Tremor

Pathological Conditions, Signs and Symptoms; Nervous System Diseases

0.700

dbSNP:

rs1569548274

0.701

0.520

154030553

splice acceptor variant

delins

CUI:	C0029453
Disease:	Osteopenia

Osteopenia

Nutritional and Metabolic Diseases; Musculoskeletal Diseases

0.700

dbSNP:

rs1569548274

0.701

0.520

154030553

splice acceptor variant

delins

CUI:	C1145670
Disease:	Respiratory Failure

Respiratory Failure

Respiratory Tract Diseases

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

dbSNP:

rs1569548274

0.701

0.520

154030553

splice acceptor variant

delins

CUI:	C0557874
Disease:	Global developmental delay

Global developmental delay

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:	C0027092
Disease:	Myopia

Myopia

Eye Diseases

0.700

dbSNP:

rs1569548274

0.701

0.520

154030553

splice acceptor variant

delins

CUI:	C1837658
Disease:	Gross motor development delay

Gross motor development delay

Mental Disorders

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:	C2712334
Disease:	Actual Aspiration

Actual Aspiration

0.700

dbSNP:

rs1569548274

0.701

0.520

154030553

splice acceptor variant

delins

CUI:	C1844946
Disease:	Episodic hypoventilation

Episodic hypoventilation

Pathological Conditions, Signs and Symptoms; Respiratory Tract 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:	C3494422
Disease:	Retrognathia

Retrognathia

Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases

0.700