DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: Overgrowth ×

Variant: rs1553897738 ×

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

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs1553897738

PHOX2B

CUI:	C1849265
Disease:	Overgrowth

Overgrowth

0.700

GeneticVariation

CLINVAR

Nonsense pathogenic variants in exon 1 of PHOX2B lead to translational reinitiation in congenital central hypoventilation syndrome.

28371199

2017

dbSNP:

rs1553897738

PHOX2B

CUI:	C1849265
Disease:	Overgrowth

Overgrowth

0.700

GeneticVariation

CLINVAR

Congenital central hypoventilation syndrome: PHOX2B mutations and phenotype.

16888290

2006

dbSNP:

rs1553897738

PHOX2B

CUI:	C1849265
Disease:	Overgrowth

Overgrowth

0.700

GeneticVariation

CLINVAR

Germline mutations of the paired-like homeobox 2B (PHOX2B) gene in neuroblastoma.

15024693

2004

dbSNP:

rs1553897738

PHOX2B

CUI:	C1849265
Disease:	Overgrowth

Overgrowth

0.700

GeneticVariation

CLINVAR

Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome.

12640453

2003