DisGeNET - a database of gene-disease associations

MACF1, microtubule actin crosslinking factor 1, 23499

N. diseases: 62; 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:

rs7528276

0.790

0.080

39344315

intron variant

T/A;C

snv

CUI:	C0009402
Disease:	Colorectal Carcinoma

Colorectal Carcinoma

Digestive System Diseases; Neoplasms

0.710

1.000

2016

dbSNP:

rs112566467

39096955

intron variant

C/T

snv

0.16

CUI:	C1305855
Disease:	Body mass index

Body mass index

0.700

1.000

2019

dbSNP:

rs2296172

1.000

0.080

39370145

missense variant

A/G;T

snv

0.19; 8.0E-06

CUI:	C0011860
Disease:	Diabetes Mellitus, Non-Insulin-Dependent

Diabetes Mellitus, Non-Insulin-Dependent

Nutritional and Metabolic Diseases; Endocrine System Diseases

0.700

1.000

2017

2018

dbSNP:

rs2296172

1.000

0.080

39370145

missense variant

A/G;T

snv

0.19; 8.0E-06

CUI:	C1305855
Disease:	Body mass index

Body mass index

0.700

1.000

2018

dbSNP:

rs72634501

39085816

intron variant

T/C

snv

0.18

CUI:	C0392885
Disease:	High density lipoprotein measurement

High density lipoprotein measurement

0.700

1.000

2015

2018

dbSNP:

rs11205823

39248566

intron variant

T/A

snv

0.66

CUI:	C4528257
Disease:	Corpuscular Hemoglobin Concentration Mean

Corpuscular Hemoglobin Concentration Mean

0.700

1.000

2016

dbSNP:

rs1488808726

1.000

0.080

39451086

missense variant

G/C

snv

CUI:	C0266463
Disease:	Lissencephaly

Lissencephaly

Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases

0.700

1.000

2018

dbSNP:

rs16826069

1.000

0.080

39331383

missense variant

A/G

snv

0.22

0.17

CUI:	C0011860
Disease:	Diabetes Mellitus, Non-Insulin-Dependent

Diabetes Mellitus, Non-Insulin-Dependent

Nutritional and Metabolic Diseases; Endocrine System Diseases

0.700

1.000

2018

dbSNP:

rs17491275

39206873

3 prime UTR variant

T/G

snv

0.13

CUI:	C0014772
Disease:	Red Blood Cell Count measurement

Red Blood Cell Count measurement

0.700

1.000

2019

dbSNP:

rs2036465

39110310

intron variant

A/C;G

snv

CUI:	C0018681
Disease:	Headache

Headache

Pathological Conditions, Signs and Symptoms

0.700

1.000

2018

dbSNP:

rs2296172

1.000

0.080

39370145

missense variant

A/G;T

snv

0.19; 8.0E-06

CUI:	C0392885
Disease:	High density lipoprotein measurement

High density lipoprotein measurement

0.700

1.000

2017

dbSNP:

rs2296172

1.000

0.080

39370145

missense variant

A/G;T

snv

0.19; 8.0E-06

CUI:	C1704436
Disease:	Peripheral Arterial Diseases

Peripheral Arterial Diseases

Cardiovascular Diseases

0.700

1.000

2016

dbSNP:

rs2296173

1.000

0.080

39447679

intron variant

A/G

snv

0.19

0.16

CUI:	C0011860
Disease:	Diabetes Mellitus, Non-Insulin-Dependent

Diabetes Mellitus, Non-Insulin-Dependent

Nutritional and Metabolic Diseases; Endocrine System Diseases

0.700

1.000

2018

dbSNP:

rs4660214

39265878

intron variant

T/A;C

snv

CUI:	C1704436
Disease:	Peripheral Arterial Diseases

Peripheral Arterial Diseases

Cardiovascular Diseases

0.700

1.000

2016

dbSNP:

rs658191

0.790

0.080

39458103

non coding transcript exon variant

C/G

snv

6.1E-02

CUI:	C3554460
Disease:	COLORECTAL CANCER, SUSCEPTIBILITY TO, 12

COLORECTAL CANCER, SUSCEPTIBILITY TO, 12

0.700

1.000

2016

dbSNP:

rs658191

0.790

0.080

39458103

non coding transcript exon variant

C/G

snv

6.1E-02

CUI:	C1837315
Disease:	COLORECTAL CANCER, SUSCEPTIBILITY TO, 1

COLORECTAL CANCER, SUSCEPTIBILITY TO, 1

0.700

1.000

2016

dbSNP:

rs658191

0.790

0.080

39458103

non coding transcript exon variant

C/G

snv

6.1E-02

CUI:	C0007102
Disease:	Malignant tumor of colon

Malignant tumor of colon

Digestive System Diseases; Neoplasms

0.700

1.000

2016

dbSNP:

rs658191

0.790

0.080

39458103

non coding transcript exon variant

C/G

snv

6.1E-02

CUI:	C0009402
Disease:	Colorectal Carcinoma

Colorectal Carcinoma

Digestive System Diseases; Neoplasms

0.700

1.000

2016

dbSNP:

rs658191

0.790

0.080

39458103

non coding transcript exon variant

C/G

snv

6.1E-02

CUI:	C0009404
Disease:	Colorectal Neoplasms

Colorectal Neoplasms

Digestive System Diseases; Neoplasms

0.700

1.000

2016

dbSNP:

rs658191

0.790

0.080

39458103

non coding transcript exon variant

C/G

snv

6.1E-02

CUI:	C0346629
Disease:	Malignant neoplasm of large intestine

Malignant neoplasm of large intestine

Digestive System Diseases; Neoplasms

0.700

1.000

2016

dbSNP:

rs658191

0.790

0.080

39458103

non coding transcript exon variant

C/G

snv

6.1E-02

CUI:	C2677123
Disease:	COLORECTAL CANCER, SUSCEPTIBILITY TO, 3

COLORECTAL CANCER, SUSCEPTIBILITY TO, 3

0.700

1.000

2016

dbSNP:

rs658191

0.790

0.080

39458103

non coding transcript exon variant

C/G

snv

6.1E-02

CUI:	C1319315
Disease:	Adenocarcinoma of large intestine

Adenocarcinoma of large intestine

Digestive System Diseases; Neoplasms

0.700

1.000

2016

dbSNP:

rs658191

0.790

0.080

39458103

non coding transcript exon variant

C/G

snv

6.1E-02

CUI:	C2675481
Disease:	COLORECTAL CANCER, SUSCEPTIBILITY TO, 10

COLORECTAL CANCER, SUSCEPTIBILITY TO, 10

0.700

1.000

2016

dbSNP:

rs7528276

0.790

0.080

39344315

intron variant

T/A;C

snv

CUI:	C0007102
Disease:	Malignant tumor of colon

Malignant tumor of colon

Digestive System Diseases; Neoplasms

0.700

1.000

2016

dbSNP:

rs7528276

0.790

0.080

39344315

intron variant

T/A;C

snv

CUI:	C3554460
Disease:	COLORECTAL CANCER, SUSCEPTIBILITY TO, 12

COLORECTAL CANCER, SUSCEPTIBILITY TO, 12

0.700

1.000

2016