DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: Keratosis palmoplantaris papulosa ×

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:

rs1567027297

rs1567027297

AAGAB

1.000

0.080

15

67236420

frameshift variant

CT/-

delins

CUI:	C1835662
Disease:	Keratosis palmoplantaris papulosa

Keratosis palmoplantaris papulosa

0.700

dbSNP:

rs1567027610

rs1567027610

AAGAB

1.000

0.080

15

67236690

frameshift variant

GAAA/-

delins

CUI:	C1835662
Disease:	Keratosis palmoplantaris papulosa

Keratosis palmoplantaris papulosa

0.700

dbSNP:

rs200564757

rs200564757

AAGAB

0.925

0.080

15

67236060

stop gained

G/A;T

snv

2.0E-05

CUI:	C1835662
Disease:	Keratosis palmoplantaris papulosa

Keratosis palmoplantaris papulosa

0.700

dbSNP:

rs746488412

rs746488412

AAGAB

0.925

0.080

15

67231868

stop gained

G/A

snv

8.0E-06

CUI:	C1835662
Disease:	Keratosis palmoplantaris papulosa

Keratosis palmoplantaris papulosa

0.700

dbSNP:

rs753247583

rs753247583

AAGAB

1.000

0.080

15

67203547

splice donor variant

C/T

snv

1.6E-05

1.4E-05

CUI:	C1835662
Disease:	Keratosis palmoplantaris papulosa

Keratosis palmoplantaris papulosa

0.700

dbSNP:

rs781596375

rs781596375

AAGAB

1.000

0.080

15

67231876

frameshift variant

C/-

delins

CUI:	C1835662
Disease:	Keratosis palmoplantaris papulosa

Keratosis palmoplantaris papulosa

0.700