DisGeNET - a database of gene-disease associations

PPT2-EGFL8, PPT2-EGFL8 readthrough (NMD candidate), 100532746

N. diseases: 17; N. variants: 11

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

DSI _v

DPI _v

Chr

Position

Consequence

Alleles

Class

AF_EXOME

AF_GENOME

Disease

Disease Class

Score _vda

EI _vda

N. PMIDs

First Ref.

Last Ref.

dbSNP:

rs1061808

32168770

3 prime UTR variant

T/G

snv

0.64

CUI:	C0202177
Disease:	Phospholipid measurement

Phospholipid measurement

0.800

1.000

2012

dbSNP:

rs10947233

0.925

0.160

32156647

intron variant

G/C;T

snv

3.4E-02

CUI:	C0034067
Disease:	Pulmonary Emphysema

Pulmonary Emphysema

Respiratory Tract Diseases

0.710

1.000

2014

dbSNP:

rs2269425

1.000

0.120

32155862

intron variant

G/A

snv

0.16

0.14

CUI:	C0003873
Disease:	Rheumatoid Arthritis

Rheumatoid Arthritis

Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases

0.700

1.000

2007

2009

dbSNP:

rs3096697

0.882

0.200

32166733

missense variant

G/A

snv

0.16

0.18

CUI:	C0003873
Disease:	Rheumatoid Arthritis

Rheumatoid Arthritis

Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases

0.700

1.000

2007

2009

dbSNP:

rs3134603

0.851

0.360

32158225

non coding transcript exon variant

A/C;G;T

snv

CUI:	C0003873
Disease:	Rheumatoid Arthritis

Rheumatoid Arthritis

Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases

0.700

1.000

2007

2009

dbSNP:

rs1053924

1.000

0.120

32152938

non coding transcript exon variant

T/C

snv

0.71

CUI:	C0011854
Disease:	Diabetes Mellitus, Insulin-Dependent

Diabetes Mellitus, Insulin-Dependent

Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases

0.700

1.000

2007

dbSNP:

rs1061808

32168770

3 prime UTR variant

T/G

snv

0.64

CUI:	C2985280
Disease:	Blood Protein Measurement

Blood Protein Measurement

0.700

1.000

2018

dbSNP:

rs10947233

0.925

0.160

32156647

intron variant

G/C;T

snv

3.4E-02

CUI:	C0003873
Disease:	Rheumatoid Arthritis

Rheumatoid Arthritis

Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases

0.700

1.000

2011

dbSNP:

rs10947233

0.925

0.160

32156647

intron variant

G/C;T

snv

3.4E-02

CUI:	C3160731
Disease:	Pulmonary function (finding)

Pulmonary function (finding)

0.700

1.000

2010

dbSNP:

rs10947233

0.925

0.160

32156647

intron variant

G/C;T

snv

3.4E-02

CUI:	C0231921
Disease:	Pulmonary function

Pulmonary function

0.700

1.000

2010

dbSNP:

rs1269839

1.000

0.120

32169153

3 prime UTR variant

G/A;T

snv

CUI:	C0003873
Disease:	Rheumatoid Arthritis

Rheumatoid Arthritis

Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases

0.700

1.000

2011

dbSNP:

rs2849013

1.000

0.120

32164813

intron variant

A/G

snv

5.4E-02

CUI:	C0003873
Disease:	Rheumatoid Arthritis

Rheumatoid Arthritis

Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases

0.700

1.000

2011

dbSNP:

rs3096697

0.882

0.200

32166733

missense variant

G/A

snv

0.16

0.18

CUI:	C0042900
Disease:	Vitiligo

Vitiligo

Skin and Connective Tissue Diseases

0.700

1.000

2010

dbSNP:

rs3096697

0.882

0.200

32166733

missense variant

G/A

snv

0.16

0.18

CUI:	C0017665
Disease:	Membranous glomerulonephritis

Membranous glomerulonephritis

Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Immune System Diseases

0.700

1.000

2011

dbSNP:

rs3130347

1.000

0.040

32166879

intron variant

T/C

snv

0.15

0.18

CUI:	C0042900
Disease:	Vitiligo

Vitiligo

Skin and Connective Tissue Diseases

0.700

1.000

2010

dbSNP:

rs3134603

0.851

0.360

32158225

non coding transcript exon variant

A/C;G;T

snv

CUI:	C0011854
Disease:	Diabetes Mellitus, Insulin-Dependent

Diabetes Mellitus, Insulin-Dependent

Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases

0.700

1.000

2007

dbSNP:

rs3134603

0.851

0.360

32158225

non coding transcript exon variant

A/C;G;T

snv

CUI:	C0026769
Disease:	Multiple Sclerosis

Multiple Sclerosis

Immune System Diseases; Nervous System Diseases

0.700

1.000

2010

dbSNP:

rs3134603

0.851

0.360

32158225

non coding transcript exon variant

A/C;G;T

snv

CUI:	C0026764
Disease:	Multiple Myeloma

Multiple Myeloma

Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases

0.700

1.000

2013

dbSNP:

rs3134950

32159700

intron variant

C/A

snv

0.64

CUI:	C0202177
Disease:	Phospholipid measurement

Phospholipid measurement

0.700

1.000

2013

dbSNP:

rs3134950

32159700

intron variant

C/A

snv

0.64

CUI:	C1281901
Disease:	Fatty acid measurement

Fatty acid measurement

0.700

1.000

2013

dbSNP:

rs9267812

32160617

intron variant

C/G;T

snv

CUI:	C2985280
Disease:	Blood Protein Measurement

Blood Protein Measurement

0.700

1.000

2018

dbSNP:

rs9267812

32160617

intron variant

C/G;T

snv

CUI:	C0005612
Disease:	Birth Weight

Birth Weight

Pathological Conditions, Signs and Symptoms

0.700

1.000

2019