DisGeNET - a database of gene-disease associations

Source: ALL

Disease: Flatfoot ×

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Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _g

DPI _g

pLI

EI _gda

EL _gda

Score _gda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Gene

Gene Full Name

DSI _g

DPI _g

pLI

Disease

Type

Score _gda

EL_gda

EI _gda

N.PMIDs

N.SNPs _gda

First Ref.

LastRef.

Entrez Id:	7040
Gene Symbol:	TGFB1

TGFB1

transforming growth factor beta 1

0.287

0.962

3.7E-02

CUI:	C0016202
Disease:	Flatfoot

Flatfoot

phenotype

0.100

None

Entrez Id:	6324
Gene Symbol:	SCN1B

SCN1B

sodium voltage-gated channel beta subunit 1

0.575

0.538

0.10

CUI:	C0016202
Disease:	Flatfoot

Flatfoot

phenotype

0.100

None

Entrez Id:	6323
Gene Symbol:	SCN1A

SCN1A

sodium voltage-gated channel alpha subunit 1

0.477

0.808

1.00

CUI:	C0016202
Disease:	Flatfoot

Flatfoot

phenotype

0.100

None

Entrez Id:	6305
Gene Symbol:	SBF1

SBF1

SET binding factor 1

0.700

0.500

1.00

CUI:	C0016202
Disease:	Flatfoot

Flatfoot

phenotype

0.100

None

Entrez Id:	6301
Gene Symbol:	SARS1

SARS1

seryl-tRNA synthetase 1

0.558

0.769

1.00

CUI:	C0016202
Disease:	Flatfoot

Flatfoot

phenotype

0.100

None

Entrez Id:	6299
Gene Symbol:	SALL1

SALL1

spalt like transcription factor 1

0.539

0.808

1.00

CUI:	C0016202
Disease:	Flatfoot

Flatfoot

phenotype

0.100

None

Entrez Id:	6261
Gene Symbol:	RYR1

RYR1

ryanodine receptor 1

0.489

0.808

1.6E-29

CUI:	C0016202
Disease:	Flatfoot

Flatfoot

phenotype

0.100

None

Entrez Id:	6197
Gene Symbol:	RPS6KA3

RPS6KA3

ribosomal protein S6 kinase A3

0.491

0.846

1.00

CUI:	C0016202
Disease:	Flatfoot

Flatfoot

phenotype

0.100

None

Entrez Id:	613
Gene Symbol:	BCR

BCR

BCR activator of RhoGEF and GTPase

0.431

0.885

0.99

CUI:	C0016202
Disease:	Flatfoot

Flatfoot

phenotype

0.100

None

Entrez Id:	60675
Gene Symbol:	PROK2

PROK2

prokineticin 2

0.555

0.769

1.4E-02

CUI:	C0016202
Disease:	Flatfoot

Flatfoot

phenotype

0.100

None

Entrez Id:	5982
Gene Symbol:	RFC2

RFC2

replication factor C subunit 2

0.520

0.769

2.2E-06

CUI:	C0016202
Disease:	Flatfoot

Flatfoot

phenotype

0.100

None

Entrez Id:	59341
Gene Symbol:	TRPV4

TRPV4

transient receptor potential cation channel subfamily V member 4

0.457

0.808

2.2E-16

CUI:	C0016202
Disease:	Flatfoot

Flatfoot

phenotype

0.100

None

Entrez Id:	59
Gene Symbol:	ACTA2

ACTA2

actin alpha 2, smooth muscle

0.508

0.846

0.93

CUI:	C0016202
Disease:	Flatfoot

Flatfoot

phenotype

0.100

None

Entrez Id:	5889
Gene Symbol:	RAD51C

RAD51C

RAD51 paralog C

0.533

0.692

6.2E-14

CUI:	C0016202
Disease:	Flatfoot

Flatfoot

phenotype

0.100

None

Entrez Id:	5888
Gene Symbol:	RAD51

RAD51

RAD51 recombinase

0.447

0.846

2.7E-02

CUI:	C0016202
Disease:	Flatfoot

Flatfoot

phenotype

0.100

None

Entrez Id:	5831
Gene Symbol:	PYCR1

PYCR1

pyrroline-5-carboxylate reductase 1

0.570

0.654

2.0E-04

CUI:	C0016202
Disease:	Flatfoot

Flatfoot

phenotype

0.100

None

Entrez Id:	6326
Gene Symbol:	SCN2A

SCN2A

sodium voltage-gated channel alpha subunit 2

0.518

0.731

1.00

CUI:	C0016202
Disease:	Flatfoot

Flatfoot

phenotype

0.100

None

Entrez Id:	6335
Gene Symbol:	SCN9A

SCN9A

sodium voltage-gated channel alpha subunit 9

0.543

0.615

4.8E-19

CUI:	C0016202
Disease:	Flatfoot

Flatfoot

phenotype

0.100

None

Entrez Id:	63895
Gene Symbol:	PIEZO2

PIEZO2

piezo type mechanosensitive ion channel component 2

0.529

0.769

8.1E-07

CUI:	C0016202
Disease:	Flatfoot

Flatfoot

phenotype

0.100

None

Entrez Id:	6925
Gene Symbol:	TCF4

TCF4

transcription factor 4

0.464

0.846

1.00

CUI:	C0016202
Disease:	Flatfoot

Flatfoot

phenotype

0.100

None

Entrez Id:	6870
Gene Symbol:	TACR3

TACR3

tachykinin receptor 3

0.553

0.769

1.8E-17

CUI:	C0016202
Disease:	Flatfoot

Flatfoot

phenotype

0.100

None

Entrez Id:	6855
Gene Symbol:	SYP

SYP

synaptophysin

0.481

0.808

0.92

CUI:	C0016202
Disease:	Flatfoot

Flatfoot

phenotype

0.100

None

Entrez Id:	675
Gene Symbol:	BRCA2

BRCA2

BRCA2 DNA repair associated

0.379

0.846

2.4E-25

CUI:	C0016202
Disease:	Flatfoot

Flatfoot

phenotype

0.100

None

Entrez Id:	672
Gene Symbol:	BRCA1

BRCA1

BRCA1 DNA repair associated

0.367

0.923

9.2E-29

CUI:	C0016202
Disease:	Flatfoot

Flatfoot

phenotype

0.100

None

Entrez Id:	6663
Gene Symbol:	SOX10

SOX10

SRY-box transcription factor 10

0.461

0.808

0.99

CUI:	C0016202
Disease:	Flatfoot

Flatfoot

phenotype

0.100

None