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:

rs1557136758

MECP2

154031215

frameshift variant

-/T

delins

CUI:	C0026827
Disease:	Muscle hypotonia

Muscle hypotonia

0.700

1.000

1993

2016

dbSNP:

rs1557137745

MECP2

154032272

missense variant

C/A

snv

CUI:	C0026650
Disease:	Movement Disorders

Movement Disorders

0.700

1.000

1993

2016

dbSNP:

rs1557137745

MECP2

154032272

missense variant

C/A

snv

CUI:	C0026827
Disease:	Muscle hypotonia

Muscle hypotonia

0.700

1.000

1993

2016

dbSNP:

rs1569548274

MECP2

0.701

0.520

154030553

splice acceptor variant

TCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGC/-

delins

CUI:	C0003862
Disease:	Arthralgia

Arthralgia

0.700

dbSNP:

rs1569548274

MECP2

0.701

0.520

154030553

splice acceptor variant

delins

CUI:	C2712334
Disease:	Actual Aspiration

Actual Aspiration

0.700

dbSNP:

rs1569548274

MECP2

0.701

0.520

154030553

splice acceptor variant

delins

CUI:	C0036572
Disease:	Seizures

Seizures

0.700

dbSNP:

rs1569548274

MECP2

0.701

0.520

154030553

splice acceptor variant

delins

CUI:	C1844946
Disease:	Episodic hypoventilation

Episodic hypoventilation

0.700

dbSNP:

rs1569548274

MECP2

0.701

0.520

154030553

splice acceptor variant

delins

CUI:	C0014877
Disease:	Esotropia

Esotropia

0.700

dbSNP:

rs1569548274

MECP2

0.701

0.520

154030553

splice acceptor variant

delins

CUI:	C1845847
Disease:	Coarse facial features

Coarse facial features

0.700

dbSNP:

rs1569548274

MECP2

0.701

0.520

154030553

splice acceptor variant

delins

CUI:	C1866180
Disease:	Horizontal pendular nystagmus

Horizontal pendular nystagmus

0.700

dbSNP:

rs1569548274

MECP2

0.701

0.520

154030553

splice acceptor variant

delins

CUI:	C0520679
Disease:	Sleep Apnea, Obstructive

Sleep Apnea, Obstructive

0.700

dbSNP:

rs1569548274

MECP2

0.701

0.520

154030553

splice acceptor variant

delins

CUI:	C1837658
Disease:	Gross motor development delay

Gross motor development delay

0.700

dbSNP:

rs1569548274

MECP2

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

MECP2

0.701

0.520

154030553

splice acceptor variant

delins

CUI:	C0575059
Disease:	Spastic tetraparesis

Spastic tetraparesis

0.700

dbSNP:

rs1569548274

MECP2

0.701

0.520

154030553

splice acceptor variant

delins

CUI:	C3494422
Disease:	Retrognathia

Retrognathia

0.700

dbSNP:

rs1569548274

MECP2

0.701

0.520

154030553

splice acceptor variant

delins

CUI:	C1142132
Disease:	Carnitine deficiency

Carnitine deficiency

0.700

dbSNP:

rs1569548274

MECP2

0.701

0.520

154030553

splice acceptor variant

delins

CUI:	C0013421
Disease:	Dystonia

Dystonia

0.700

dbSNP:

rs1569548274

MECP2

0.701

0.520

154030553

splice acceptor variant

delins

CUI:	C0454644
Disease:	Delayed speech and language development

Delayed speech and language development

0.700

dbSNP:

rs1569548274

MECP2

0.701

0.520

154030553

splice acceptor variant

delins

CUI:	C1848395
Disease:	Large for gestational age

Large for gestational age

0.700

dbSNP:

rs1569548274

MECP2

0.701

0.520

154030553

splice acceptor variant

delins

CUI:	C0029453
Disease:	Osteopenia

Osteopenia

0.700

dbSNP:

rs1569548274

MECP2

0.701

0.520

154030553

splice acceptor variant

delins

CUI:	C1145670
Disease:	Respiratory Failure

Respiratory Failure

0.700

dbSNP:

rs1569548274

MECP2

0.701

0.520

154030553

splice acceptor variant

delins

CUI:	C0231528
Disease:	Myalgia

Myalgia

0.700

dbSNP:

rs1569548274

MECP2

0.701

0.520

154030553

splice acceptor variant

delins

CUI:	C0557874
Disease:	Global developmental delay

Global developmental delay

0.700

dbSNP:

rs1569548274

MECP2

0.701

0.520

154030553

splice acceptor variant

delins

CUI:	C4317146
Disease:	Acid reflux

Acid reflux

0.700

dbSNP:

rs1569548274

MECP2

0.701

0.520

154030553

splice acceptor variant

delins

CUI:	C4551563
Disease:	Microcephaly (physical finding)

Microcephaly (physical finding)

0.700