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:

rs61750240

0.752

0.240

154031020

stop gained

G/A;C

snv

5.5E-06

CUI:	C0432072
Disease:	Dysmorphic features

Dysmorphic features

0.700

1.000

1993

2016

dbSNP:

rs61750241

0.807

0.080

154031022

frameshift variant

C/-

delins

CUI:	C0432072
Disease:	Dysmorphic features

Dysmorphic features

0.700

1.000

1993

2016

dbSNP:

rs61751443

0.925

0.080

154030911

missense variant

C/A;G;T

snv

CUI:	C0432072
Disease:	Dysmorphic features

Dysmorphic features

0.700

1.000

1993

2016

dbSNP:

rs61751444

0.882

0.080

154030903

missense variant

G/A

snv

CUI:	C0432072
Disease:	Dysmorphic features

Dysmorphic features

0.700

1.000

1993

2016

dbSNP:

rs61752992

0.807

0.120

154030621

splice acceptor variant

TGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGC/-

delins

CUI:	C1849265
Disease:	Overgrowth

Overgrowth

0.700

1.000

1993

2016

dbSNP:

rs179363901

0.882

0.120

154097661

missense variant

G/A

snv

CUI:	C0557874
Disease:	Global developmental delay

Global developmental delay

0.010

1.000

2009

dbSNP:

rs267608597

0.882

0.080

154030665

stop gained

GG/TA

mnv

CUI:	C0948392
Disease:	Borderline mental impairment

Borderline mental impairment

0.010

1.000

2007

dbSNP:

rs28934906

0.716

0.320

154031355

missense variant

G/A

snv

CUI:	C0234366
Disease:	Ataxic

Ataxic

0.010

1.000

2011

dbSNP:

rs28934906

0.716

0.320

154031355

missense variant

G/A

snv

CUI:	C0947785
Disease:	[D]Sleep disturbances (& [hypersomnia] or [insomnia])

[D]Sleep disturbances (& [hypersomnia] or [insomnia])

0.010

1.000

2006

dbSNP:

rs28934908

0.732

0.280

154031409

missense variant

G/A;T

snv

5.5E-06

CUI:	C4285807
Disease:	Behavioral and psychological symptoms of dementia

Behavioral and psychological symptoms of dementia

0.010

1.000

2014

dbSNP:

rs61751362

0.790

0.160

154030948

stop gained

G/A;C

snv

1.6E-05

CUI:	C0234366
Disease:	Ataxic

Ataxic

0.010

1.000

2011

dbSNP:

rs61751362

0.790

0.160

154030948

stop gained

G/A;C

snv

1.6E-05

CUI:	C0947785
Disease:	[D]Sleep disturbances (& [hypersomnia] or [insomnia])

[D]Sleep disturbances (& [hypersomnia] or [insomnia])

0.010

1.000

2016

dbSNP:

rs1057519404

1.000

0.080

154030716

frameshift variant

-/G

delins

CUI:	C1843367
Disease:	Poor school performance

Poor school performance

0.700

dbSNP:

rs1557134621

0.827

0.120

154030106

splice acceptor variant

CCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAG/-

delins

CUI:	C0557874
Disease:	Global developmental delay

Global developmental delay

0.700

dbSNP:

rs1557136818

0.925

0.120

154031259

missense variant

C/T

snv

CUI:	C1843367
Disease:	Poor school performance

Poor school performance

0.700

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:	C1837142
Disease:	Poor suck

Poor suck

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:	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:	C1142132
Disease:	Carnitine deficiency

Carnitine deficiency

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:	C0557874
Disease:	Global developmental delay

Global developmental delay

0.700