DisGeNET - a database of gene-disease associations

rs749203329, MLLT1

N. diseases: 7

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

Disease

N. SNPs_d

DSI _v

DPI _v

Chr

Position

Consequence

Alleles

Class

AF_EXOME

AF_GENOME

Score _vda

EI _vda

N. PMIDs

First Ref.

Last Ref.

Abnormal cortical gyration

CUI:	C1856019
Disease:	Abnormal cortical gyration

12

0.882

0.080

19

6213787

missense variant

C/T

snv

2.0E-05

1.4E-05

0.700

Short nose

CUI:	C1854114
Disease:	Short nose

23

0.882

0.080

19

6213787

missense variant

C/T

snv

2.0E-05

1.4E-05

0.700

Infantile Spasm

CUI:	C3887898
Disease:	Infantile Spasm

39

0.882

0.080

19

6213787

missense variant

C/T

snv

2.0E-05

1.4E-05

0.700

Cerebral atrophy

CUI:	C0235946
Disease:	Cerebral atrophy

44

0.882

0.080

19

6213787

missense variant

C/T

snv

2.0E-05

1.4E-05

0.700

Orbital separation excessive

CUI:	C0020534
Disease:	Orbital separation excessive

77

0.882

0.080

19

6213787

missense variant

C/T

snv

2.0E-05

1.4E-05

0.700

Global developmental delay

CUI:	C0557874
Disease:	Global developmental delay

553

0.882

0.080

19

6213787

missense variant

C/T

snv

2.0E-05

1.4E-05

0.700

Muscle hypotonia

CUI:	C0026827
Disease:	Muscle hypotonia

579

0.882

0.080

19

6213787

missense variant

C/T

snv

2.0E-05

1.4E-05

0.700