DisGeNET - a database of gene-disease associations

Source: ALL

Disease: Reduced tendon reflexes ×

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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:

rs1114167423

rs1114167423

APTX

0.882

0.240

9

32984704

stop gained

T/A

snv

CUI:	C1866934
Disease:	Reduced tendon reflexes

Reduced tendon reflexes

0.700

1.000

2017

2017

dbSNP:

rs1057518946

rs1057518946

GJB1

0.882

0.080

X

71223816

missense variant

G/T

snv

CUI:	C1866934
Disease:	Reduced tendon reflexes

Reduced tendon reflexes

0.700

dbSNP:

rs1294950721

rs1294950721

JAG1

0.807

0.360

20

10645355

splice donor variant

C/A;T

snv

7.0E-06

CUI:	C1866934
Disease:	Reduced tendon reflexes

Reduced tendon reflexes

0.700

dbSNP:

rs1568019012

rs1568019012

LAMA1

0.790

0.360

18

6985616

stop gained

G/A

snv

CUI:	C1866934
Disease:	Reduced tendon reflexes

Reduced tendon reflexes

0.700

dbSNP:

rs28934907

rs28934907

MECP2

0.732

0.320

X

154032268

missense variant

G/A;C

snv

CUI:	C1866934
Disease:	Reduced tendon reflexes

Reduced tendon reflexes

0.700

dbSNP:

rs587782995

rs587782995

PURA

0.708

0.360

5

140114480

missense variant

T/C

snv

CUI:	C1866934
Disease:	Reduced tendon reflexes

Reduced tendon reflexes

0.700

dbSNP:

rs727502818

rs727502818

KCNC1

0.790

0.160

11

17772053

missense variant

G/A

snv

CUI:	C1866934
Disease:	Reduced tendon reflexes

Reduced tendon reflexes

0.700

dbSNP:

rs796052243

rs796052243

SPATA5

0.695

0.520

4

122934574

inframe deletion

CAA/-

delins

CUI:	C1866934
Disease:	Reduced tendon reflexes

Reduced tendon reflexes

0.700