DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variant: rs397507520 ×

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:

rs397507520

PTPN11

0.658

0.520

112453279

missense variant

G/C;T

snv

CUI:	C4551602
Disease:	Noonan Syndrome 1

Noonan Syndrome 1

0.800

1.000

2001

2017

dbSNP:

rs397507520

PTPN11

0.658

0.520

112453279

missense variant

G/C;T

snv

CUI:	C0028326
Disease:	Noonan Syndrome

Noonan Syndrome

0.710

1.000

2002

2013

dbSNP:

rs397507520

PTPN11

0.658

0.520

112453279

missense variant

G/C;T

snv

CUI:	C0349639
Disease:	Juvenile Myelomonocytic Leukemia

Juvenile Myelomonocytic Leukemia

0.710

1.000

2002

2013

dbSNP:

rs397507520

PTPN11

0.658

0.520

112453279

missense variant

G/C;T

snv

CUI:	C0000772
Disease:	Multiple congenital anomalies

Multiple congenital anomalies

0.700

1.000

1968

2016

dbSNP:

rs397507520

PTPN11

0.658

0.520

112453279

missense variant

G/C;T

snv

CUI:	C0432072
Disease:	Dysmorphic features

Dysmorphic features

0.700

1.000

1968

2016

dbSNP:

rs397507520

PTPN11

0.658

0.520

112453279

missense variant

G/C;T

snv

CUI:	C0152190
Disease:	Refractive amblyopia

Refractive amblyopia

0.700

1.000

2002

2008

dbSNP:

rs397507520

PTPN11

0.658

0.520

112453279

missense variant

G/C;T

snv

CUI:	C0349588
Disease:	Short stature

Short stature

0.700

1.000

2002

2008

dbSNP:

rs397507520

PTPN11

0.658

0.520

112453279

missense variant

G/C;T

snv

CUI:	C0004106
Disease:	Astigmatism

Astigmatism

0.700

1.000

2002

2008

dbSNP:

rs397507520

PTPN11

0.658

0.520

112453279

missense variant

G/C;T

snv

CUI:	C1844806
Disease:	Weight less than 3rd percentile

Weight less than 3rd percentile

0.700

dbSNP:

rs397507520

PTPN11

0.658

0.520

112453279

missense variant

G/C;T

snv

CUI:	C0016842
Disease:	Congenital pectus excavatum

Congenital pectus excavatum

0.700

dbSNP:

rs397507520

PTPN11

0.658

0.520

112453279

missense variant

G/C;T

snv

CUI:	C0578626
Disease:	blue iris (physical finding)

blue iris (physical finding)

0.700

dbSNP:

rs397507520

PTPN11

0.658

0.520

112453279

missense variant

G/C;T

snv

CUI:	C1865017
Disease:	Thin upper lip vermilion

Thin upper lip vermilion

0.700

dbSNP:

rs397507520

PTPN11

0.658

0.520

112453279

missense variant

G/C;T

snv

CUI:	C1142533
Disease:	Smooth philtrum

Smooth philtrum

0.700

dbSNP:

rs397507520

PTPN11

0.658

0.520

112453279

missense variant

G/C;T

snv

CUI:	C1843367
Disease:	Poor school performance

Poor school performance

0.700

dbSNP:

rs397507520

PTPN11

0.658

0.520

112453279

missense variant

G/C;T

snv

CUI:	C1328931
Disease:	Multiple lentigines

Multiple lentigines

0.700

dbSNP:

rs397507520

PTPN11

0.658

0.520

112453279

missense variant

G/C;T

snv

CUI:	C0221356
Disease:	Brachycephaly

Brachycephaly

0.700

dbSNP:

rs397507520

PTPN11

0.658

0.520

112453279

missense variant

G/C;T

snv

CUI:	C0020534
Disease:	Orbital separation excessive

Orbital separation excessive

0.700

dbSNP:

rs397507520

PTPN11

0.658

0.520

112453279

missense variant

G/C;T

snv

CUI:	C0410530
Disease:	Metachondromatosis

Metachondromatosis

0.700

dbSNP:

rs397507520

PTPN11

0.658

0.520

112453279

missense variant

G/C;T

snv

CUI:	C1856872
Disease:	Down-sloping shoulders

Down-sloping shoulders

0.700

dbSNP:

rs397507520

PTPN11

0.658

0.520

112453279

missense variant

G/C;T

snv

CUI:	C0010417
Disease:	Cryptorchidism

Cryptorchidism

0.700

dbSNP:

rs397507520

PTPN11

0.658

0.520

112453279

missense variant

G/C;T

snv

CUI:	C0557874
Disease:	Global developmental delay

Global developmental delay

0.700

dbSNP:

rs397507520

PTPN11

0.658

0.520

112453279

missense variant

G/C;T

snv

CUI:	C1849221
Disease:	Fair hair

Fair hair

0.700

dbSNP:

rs397507520

PTPN11

0.658

0.520

112453279

missense variant

G/C;T

snv

CUI:	C1850049
Disease:	Clinodactyly of the 5th finger

Clinodactyly of the 5th finger

0.700

dbSNP:

rs397507520

PTPN11

0.658

0.520

112453279

missense variant

G/C;T

snv

CUI:	C0007194
Disease:	Hypertrophic Cardiomyopathy

Hypertrophic Cardiomyopathy

0.700

dbSNP:

rs397507520

PTPN11

0.658

0.520

112453279

missense variant

G/C;T

snv

CUI:	C1868571
Disease:	Highly arched eyebrow

Highly arched eyebrow

0.700