DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: Flat face ×

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:

rs1554333853

rs1554333853

CDK13

0.689

0.320

7

40046006

missense variant

A/G

snv

CUI:	C1853241
Disease:	Flat face

Flat face

0.700

1.000

2017

2017

dbSNP:

rs1010184002

rs1010184002

PEX6

0.689

0.400

6

42978878

stop gained

C/T

snv

7.0E-06

CUI:	C1853241
Disease:	Flat face

Flat face

0.700

dbSNP:

rs1131692229

rs1131692229

KIDINS220

0.851

0.120

2

8730956

frameshift variant

GT/-

delins

CUI:	C1853241
Disease:	Flat face

Flat face

0.700

dbSNP:

rs1554902217

rs1554902217

TPP1

0.851

0.160

11

6618821

frameshift variant

A/-

del

CUI:	C1853241
Disease:	Flat face

Flat face

0.700

dbSNP:

rs1557036757

rs1557036757

HUWE1

0.925

0.240

X

53647375

missense variant

G/A

snv

CUI:	C1853241
Disease:	Flat face

Flat face

0.700

dbSNP:

rs199473457

rs199473457

KCNQ1

0.827

0.200

11

2572020

missense variant

C/A;T

snv

CUI:	C1853241
Disease:	Flat face

Flat face

0.700

dbSNP:

rs61753219

rs61753219

PEX6

0.672

0.400

6

42978330

missense variant

G/A

snv

3.6E-05

2.8E-05

CUI:	C1853241
Disease:	Flat face

Flat face

0.700