DisGeNET - a database of gene-disease associations

MACROCEPHALY/MEGALENCEPHALY SYNDROME, AUTOSOMAL RECESSIVE, C3806412

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

Gene

N.diseases _v

DSI _v

DPI _v

Chr

Position

Consequence

Alleles

Class

AF_EXOME

AF_GENOME

Score _vda

EI _vda

N. PMIDs

First Ref.

Last Ref.

dbSNP:

rs1554192525

rs1554192525

TBC1D7 ; TBC1D7-LOC100130357

1

1.000

6

13306445

frameshift variant

-/T

delins

0.700

dbSNP:

rs483352922

rs483352922

TBC1D7 ; TBC1D7-LOC100130357

1

1.000

6

13307727

frameshift variant

A/-

del

0.700

dbSNP:

rs587777652

rs587777652

TBC1D7 ; TBC1D7-LOC100130357

1

1.000

6

13326878

frameshift variant

CTCT/-

delins

8.1E-06

7.0E-06

0.700