DisGeNET - a database of gene-disease associations

Source: ALL

Gene: KMT2A ×

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:

rs2017122

KMT2A

0.925

0.040

118444134

intron variant

C/T

snv

4.0E-02

CUI:	C0041696
Disease:	Unipolar Depression

Unipolar Depression

0.700

1.000

2016

dbSNP:

rs2017122

KMT2A

0.925

0.040

118444134

intron variant

C/T

snv

4.0E-02

CUI:	C1269683
Disease:	Major Depressive Disorder

Major Depressive Disorder

0.700

1.000

2016

dbSNP:

rs525549

KMT2A

0.882

0.120

118487353

intron variant

T/A

snv

0.33

CUI:	C0023449
Disease:	Acute lymphocytic leukemia

Acute lymphocytic leukemia

0.010

1.000

2011

dbSNP:

rs525549

KMT2A

0.882

0.120

118487353

intron variant

T/A

snv

0.33

CUI:	C0751606
Disease:	Adult Acute Lymphocytic Leukemia

Adult Acute Lymphocytic Leukemia

0.010

1.000

2011

dbSNP:

rs525549

KMT2A

0.882

0.120

118487353

intron variant

T/A

snv

0.33

CUI:	C0023452
Disease:	Childhood Acute Lymphoblastic Leukemia

Childhood Acute Lymphoblastic Leukemia

0.010

1.000

2011

dbSNP:

rs74422681

KMT2A

118442155

intron variant

A/G

snv

4.4E-02

CUI:	C0014772
Disease:	Red Blood Cell Count measurement

Red Blood Cell Count measurement

0.700

1.000

2019

dbSNP:

rs150800017

KMT2A

1.000

118489816

stop gained

C/G;T

snv

8.0E-06

CUI:	C0432072
Disease:	Dysmorphic features

Dysmorphic features

0.700

1.000

1989

2017

dbSNP:

rs1555039343

KMT2A

1.000

118481870

stop gained

C/T

snv

CUI:	C0432072
Disease:	Dysmorphic features

Dysmorphic features

0.700

1.000

1989

2017

dbSNP:

rs1555046404

KMT2A

1.000

118503042

stop gained

C/T

snv

CUI:	C0432072
Disease:	Dysmorphic features

Dysmorphic features

0.700

1.000

1989

2017

dbSNP:

rs781978013

KMT2A

1.000

118472681

stop gained

G/A;T

snv

4.0E-06

CUI:	C0000772
Disease:	Multiple congenital anomalies

Multiple congenital anomalies

0.700

1.000

1989

2017

dbSNP:

rs781978013

KMT2A

1.000

118472681

stop gained

G/A;T

snv

4.0E-06

CUI:	C1849265
Disease:	Overgrowth

Overgrowth

0.700

1.000

1989

2017

dbSNP:

rs781978013

KMT2A

1.000

118472681

stop gained

G/A;T

snv

4.0E-06

CUI:	C0432072
Disease:	Dysmorphic features

Dysmorphic features

0.700

1.000

1989

2017

dbSNP:

rs868985556

KMT2A

1.000

118478083

stop gained

C/T

snv

CUI:	C0432072
Disease:	Dysmorphic features

Dysmorphic features

0.700

1.000

1989

2017

dbSNP:

rs886041896

KMT2A

1.000

118494360

stop gained

A/T

snv

CUI:	C0432072
Disease:	Dysmorphic features

Dysmorphic features

0.700

1.000

1989

2017

dbSNP:

rs886041896

KMT2A

1.000

118494360

stop gained

A/T

snv

CUI:	C0026827
Disease:	Muscle hypotonia

Muscle hypotonia

0.700

1.000

1989

2017

dbSNP:

rs1555036801

KMT2A

1.000

0.240

118474055

stop gained

A/T

snv

CUI:	C1854630
Disease:	Growth Deficiency and Mental Retardation with Facial Dysmorphism

Growth Deficiency and Mental Retardation with Facial Dysmorphism

0.700

dbSNP:

rs1555038029

KMT2A

0.776

0.400

118477973

stop gained

C/A

snv

CUI:	C4317146
Disease:	Acid reflux

Acid reflux

0.700

dbSNP:

rs1555038029

KMT2A

0.776

0.400

118477973

stop gained

C/A

snv

CUI:	C0520679
Disease:	Sleep Apnea, Obstructive

Sleep Apnea, Obstructive

0.700

dbSNP:

rs1555038029

KMT2A

0.776

0.400

118477973

stop gained

C/A

snv

CUI:	C1260959
Disease:	Drusen

Drusen

0.700

dbSNP:

rs1555038029

KMT2A

0.776

0.400

118477973

stop gained

C/A

snv

CUI:	C1854630
Disease:	Growth Deficiency and Mental Retardation with Facial Dysmorphism

Growth Deficiency and Mental Retardation with Facial Dysmorphism

0.700

dbSNP:

rs1555038029

KMT2A

0.776

0.400

118477973

stop gained

C/A

snv

CUI:	C0240635
Disease:	Byzanthine arch palate

Byzanthine arch palate

0.700

dbSNP:

rs1555038029

KMT2A

0.776

0.400

118477973

stop gained

C/A

snv

CUI:	C1837658
Disease:	Gross motor development delay

Gross motor development delay

0.700

dbSNP:

rs1555038029

KMT2A

0.776

0.400

118477973

stop gained

C/A

snv

CUI:	C0018818
Disease:	Ventricular Septal Defects

Ventricular Septal Defects

0.700

dbSNP:

rs1555038029

KMT2A

0.776

0.400

118477973

stop gained

C/A

snv

CUI:	C1858120
Disease:	Generalized hypotonia

Generalized hypotonia

0.700

dbSNP:

rs1555038029

KMT2A

0.776

0.400

118477973

stop gained

C/A

snv

CUI:	C0575897
Disease:	Thumb deformity

Thumb deformity

0.700