DisGeNET - a database of gene-disease associations

CYP3A4, cytochrome P450 family 3 subfamily A member 4, 1576

N. diseases: 291; N. variants: 17

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:

rs3735451

99758352

intron variant

T/C

snv

0.31

CUI:	C1510472
Disease:	Drug Dependence

Drug Dependence

Chemically-Induced Disorders; Mental Disorders

0.010

1.000

2019

dbSNP:

rs4986910

0.925

0.080

99760901

missense variant

A/G

snv

5.2E-03

5.1E-03

CUI:	C0678222
Disease:	Breast Carcinoma

Breast Carcinoma

Neoplasms; Skin and Connective Tissue Diseases

0.010

1.000

2009

dbSNP:

rs4986910

0.925

0.080

99760901

missense variant

A/G

snv

5.2E-03

5.1E-03

CUI:	C0006142
Disease:	Malignant neoplasm of breast

Malignant neoplasm of breast

Neoplasms; Skin and Connective Tissue Diseases

0.010

1.000

2009

dbSNP:

rs4986910

0.925

0.080

99760901

missense variant

A/G

snv

5.2E-03

5.1E-03

CUI:	C0040034
Disease:	Thrombocytopenia

Thrombocytopenia

Hemic and Lymphatic Diseases

0.010

1.000

2015

dbSNP:

rs368005287

0.882

0.120

99762071

stop gained

C/T

snv

1.2E-05

7.0E-06

CUI:	C0751606
Disease:	Adult Acute Lymphocytic Leukemia

Adult Acute Lymphocytic Leukemia

0.010

1.000

2004

dbSNP:

rs368005287

0.882

0.120

99762071

stop gained

C/T

snv

1.2E-05

7.0E-06

CUI:	C0023449
Disease:	Acute lymphocytic leukemia

Acute lymphocytic leukemia

Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases

0.010

1.000

2004

dbSNP:

rs368005287

0.882

0.120

99762071

stop gained

C/T

snv

1.2E-05

7.0E-06

CUI:	C0023452
Disease:	Childhood Acute Lymphoblastic Leukemia

Childhood Acute Lymphoblastic Leukemia

Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases

0.010

1.000

2004

dbSNP:

rs4646440

99763247

intron variant

G/A

snv

5.1E-02

CUI:	C0087169
Disease:	Withdrawal Symptoms

Withdrawal Symptoms

Chemically-Induced Disorders; Mental Disorders

0.010

1.000

2011

dbSNP:

rs4646440

99763247

intron variant

G/A

snv

5.1E-02

CUI:	C1510472
Disease:	Drug Dependence

Drug Dependence

Chemically-Induced Disorders; Mental Disorders

0.010

1.000

2019

dbSNP:

rs2242480

0.882

0.120

99763843

intron variant

C/T

snv

0.22

0.32

CUI:	C0006142
Disease:	Malignant neoplasm of breast

Malignant neoplasm of breast

Neoplasms; Skin and Connective Tissue Diseases

0.020

1.000

2017

2019

dbSNP:

rs2242480

0.882

0.120

99763843

intron variant

C/T

snv

0.22

0.32

CUI:	C0678222
Disease:	Breast Carcinoma

Breast Carcinoma

Neoplasms; Skin and Connective Tissue Diseases

0.020

1.000

2017

2019

dbSNP:

rs2242480

0.882

0.120

99763843

intron variant

C/T

snv

0.22

0.32

CUI:	C0087169
Disease:	Withdrawal Symptoms

Withdrawal Symptoms

Chemically-Induced Disorders; Mental Disorders

0.010

1.000

2011

dbSNP:

rs2242480

0.882

0.120

99763843

intron variant

C/T

snv

0.22

0.32

CUI:	C0042870
Disease:	Vitamin D Deficiency

Vitamin D Deficiency

Nutritional and Metabolic Diseases

0.010

1.000

2018

dbSNP:

rs2242480

0.882

0.120

99763843

intron variant

C/T

snv

0.22

0.32

CUI:	C0020538
Disease:	Hypertensive disease

Hypertensive disease

Cardiovascular Diseases

0.010

1.000

2019

dbSNP:

rs138105638

99766440

stop gained

G/A;T

snv

6.4E-05

7.7E-05

CUI:	C0030193
Disease:	Pain

Pain

Pathological Conditions, Signs and Symptoms

0.010

1.000

2018

dbSNP:

rs138105638

99766440

stop gained

G/A;T

snv

6.4E-05

7.7E-05

CUI:	C0006826
Disease:	Malignant Neoplasms

Malignant Neoplasms

Neoplasms

0.010

1.000

2018

dbSNP:

rs138105638

99766440

stop gained

G/A;T

snv

6.4E-05

7.7E-05

CUI:	C1306459
Disease:	Primary malignant neoplasm

Primary malignant neoplasm

Neoplasms

0.010

1.000

2018

dbSNP:

rs372351170

1.000

0.080

99767248

synonymous variant

T/C

snv

1.8E-05

3.5E-05

CUI:	C1862382
Disease:	SVEINSSON CHORIORETINAL ATROPHY

SVEINSSON CHORIORETINAL ATROPHY

Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases

0.010

1.000

2014

dbSNP:

rs4646437

0.827

0.200

99767460

intron variant

G/A

snv

0.30

CUI:	C0020538
Disease:	Hypertensive disease

Hypertensive disease

Cardiovascular Diseases

0.020

1.000

2017

2019

dbSNP:

rs4646437

0.827

0.200

99767460

intron variant

G/A

snv

0.30

CUI:	C0015672
Disease:	Fatigue

Fatigue

Pathological Conditions, Signs and Symptoms

0.010

1.000

2017

dbSNP:

rs4646437

0.827

0.200

99767460

intron variant

G/A

snv

0.30

CUI:	C0023890
Disease:	Liver Cirrhosis

Liver Cirrhosis

Pathological Conditions, Signs and Symptoms; Digestive System Diseases

0.010

1.000

2019

dbSNP:

rs4646437

0.827

0.200

99767460

intron variant

G/A

snv

0.30

CUI:	C1510472
Disease:	Drug Dependence

Drug Dependence

Chemically-Induced Disorders; Mental Disorders

0.010

1.000

2019

dbSNP:

rs4646437

0.827

0.200

99767460

intron variant

G/A

snv

0.30

CUI:	C1704272
Disease:	Benign Prostatic Hyperplasia

Benign Prostatic Hyperplasia

Male Urogenital Diseases

0.010

1.000

2017

dbSNP:

rs4646437

0.827

0.200

99767460

intron variant

G/A

snv

0.30

CUI:	C0278678
Disease:	Metastatic Renal Cell Cancer

Metastatic Renal Cell Cancer

0.010

1.000

2017

dbSNP:

rs4646437

0.827

0.200

99767460

intron variant

G/A

snv

0.30

CUI:	C4721698
Disease:	Metastatic Renal Cell Carcinoma

Metastatic Renal Cell Carcinoma

Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases

0.010

1.000

2017