DisGeNET - a database of gene-disease associations

Sunken eyes, C0423224

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

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs120074160

rs120074160

SBDS

A

0.700

GeneticVariation

CLINVAR

dbSNP:

rs1325394060

rs1325394060

HUWE1

G

0.700

GeneticVariation

CLINVAR

dbSNP:

rs142239530

rs142239530

STIM1

T

0.700

GeneticVariation

CLINVAR

dbSNP:

rs1554122802

rs1554122802

FBN2

T

0.700

GeneticVariation

CLINVAR

dbSNP:

rs1556910184

rs1556910184

HUWE1

G

0.700

GeneticVariation

CLINVAR

dbSNP:

rs1556913180

rs1556913180

HUWE1

C

0.700

GeneticVariation

CLINVAR

dbSNP:

rs1556913258

rs1556913258

HUWE1

C

0.700

GeneticVariation

CLINVAR

dbSNP:

rs1556913268

rs1556913268

HUWE1

A

0.700

GeneticVariation

CLINVAR

dbSNP:

rs1556914274

rs1556914274

HUWE1

A

0.700

GeneticVariation

CLINVAR

dbSNP:

rs1556978515

rs1556978515

HUWE1

C

0.700

GeneticVariation

CLINVAR

dbSNP:

rs1557006873

rs1557006873

HUWE1

C

0.700

GeneticVariation

CLINVAR

dbSNP:

rs1562846694

rs1562846694

TFR2 ; ACTL6B

G

0.700

GeneticVariation

CLINVAR

Pathogenic homozygous variations in ACTL6B cause DECAM syndrome: Developmental delay, Epileptic encephalopathy, Cerebral Atrophy, and abnormal Myelination.

2019

dbSNP:

rs1569525894

rs1569525894

SLC9A6

A

0.700

GeneticVariation

CLINVAR

dbSNP:

rs374052333

rs374052333

UBA5 ; NPHP3-ACAD11

T

0.700

GeneticVariation

CLINVAR

dbSNP:

rs724159951

rs724159951

DYRK1A

C

0.700

GeneticVariation

CLINVAR

dbSNP:

rs724159955

rs724159955

DYRK1A

A

0.700

GeneticVariation

CLINVAR

dbSNP:

rs780533096

rs780533096

MIPEP

T

0.700

GeneticVariation

CLINVAR

dbSNP:

rs782393002

rs782393002

HUWE1

G

0.700

GeneticVariation

CLINVAR

dbSNP:

rs797044849

rs797044849

GRIN2B

G

0.700

GeneticVariation

CLINVAR

dbSNP:

rs866294686

rs866294686

TRIM8 ; LOC105378460

T

0.700

GeneticVariation

CLINVAR

dbSNP:

rs886041876

rs886041876

HUWE1

A

0.700

GeneticVariation

CLINVAR

dbSNP:

rs1043679457

rs1043679457

ERCC8

G

0.700

CausalMutation

CLINVAR

dbSNP:

rs1057518848

rs1057518848

TCF4

CATTG

0.700

CausalMutation

CLINVAR

dbSNP:

rs1064797102

rs1064797102

OTUD6B ; OTUD6B-AS1

G

0.700

CausalMutation

CLINVAR

dbSNP:

rs113993993

rs113993993

SBDS

G

0.700

CausalMutation

CLINVAR