DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: Muscle hypotonia ×

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Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _g

DPI _g

pLI

EI _gda

EL _gda

Score _gda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Gene

Disease

Score _gda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	284058
Gene Symbol:	KANSL1

KANSL1

CUI:	C0026827
Disease:	Muscle hypotonia

Muscle hypotonia

0.400

CausalMutation

CLINVAR

Entrez Id:	9786
Gene Symbol:	KIAA0586

KIAA0586

CUI:	C0026827
Disease:	Muscle hypotonia

Muscle hypotonia

0.100

CausalMutation

CLINVAR

Entrez Id:	80152
Gene Symbol:	CENPT

CENPT

CUI:	C0026827
Disease:	Muscle hypotonia

Muscle hypotonia

0.100

GeneticVariation

CLINVAR

Entrez Id:	93627
Gene Symbol:	TBCK

TBCK

CUI:	C0026827
Disease:	Muscle hypotonia

Muscle hypotonia

0.100

GeneticVariation

CLINVAR

Entrez Id:	10056
Gene Symbol:	FARSB

FARSB

CUI:	C0026827
Disease:	Muscle hypotonia

Muscle hypotonia

0.100

CausalMutation

CLINVAR

Entrez Id:	6513
Gene Symbol:	SLC2A1

SLC2A1

CUI:	C0026827
Disease:	Muscle hypotonia

Muscle hypotonia

0.100

CausalMutation

CLINVAR

Entrez Id:	158293
Gene Symbol:	FAM120AOS

FAM120AOS

CUI:	C0026827
Disease:	Muscle hypotonia

Muscle hypotonia

0.100

GeneticVariation

CLINVAR

Entrez Id:	23332
Gene Symbol:	CLASP1

CLASP1

CUI:	C0026827
Disease:	Muscle hypotonia

Muscle hypotonia

0.100

CausalMutation

CLINVAR

Entrez Id:	153241
Gene Symbol:	CEP120

CEP120

CUI:	C0026827
Disease:	Muscle hypotonia

Muscle hypotonia

0.100

GeneticVariation

CLINVAR

Entrez Id:	2200
Gene Symbol:	FBN1

FBN1

CUI:	C0026827
Disease:	Muscle hypotonia

Muscle hypotonia

0.100

CausalMutation

CLINVAR

Entrez Id:	92154
Gene Symbol:	MTSS2

MTSS2

CUI:	C0026827
Disease:	Muscle hypotonia

Muscle hypotonia

0.100

GeneticVariation

CLINVAR

Entrez Id:	3735
Gene Symbol:	KARS1

KARS1

CUI:	C0026827
Disease:	Muscle hypotonia

Muscle hypotonia

0.100

CausalMutation

CLINVAR

Entrez Id:	775
Gene Symbol:	CACNA1C

CACNA1C

CUI:	C0026827
Disease:	Muscle hypotonia

Muscle hypotonia

0.100

GeneticVariation

CLINVAR

Entrez Id:	10916
Gene Symbol:	MAGED2

MAGED2

CUI:	C0026827
Disease:	Muscle hypotonia

Muscle hypotonia

0.100

GeneticVariation

CLINVAR

Entrez Id:	55033
Gene Symbol:	FKBP14

FKBP14

CUI:	C0026827
Disease:	Muscle hypotonia

Muscle hypotonia

0.100

CausalMutation

CLINVAR

Entrez Id:	23332
Gene Symbol:	CLASP1

CLASP1

CUI:	C0026827
Disease:	Muscle hypotonia

Muscle hypotonia

0.100

GeneticVariation

CLINVAR

Entrez Id:	6687
Gene Symbol:	SPG7

SPG7

CUI:	C0026827
Disease:	Muscle hypotonia

Muscle hypotonia

0.100

CausalMutation

CLINVAR

Entrez Id:	2895
Gene Symbol:	GRID2

GRID2

CUI:	C0026827
Disease:	Muscle hypotonia

Muscle hypotonia

0.100

CausalMutation

CLINVAR

Entrez Id:	5831
Gene Symbol:	PYCR1

PYCR1

CUI:	C0026827
Disease:	Muscle hypotonia

Muscle hypotonia

0.100

CausalMutation

CLINVAR

Entrez Id:	2548
Gene Symbol:	GAA

GAA

CUI:	C0026827
Disease:	Muscle hypotonia

Muscle hypotonia

0.100

GeneticVariation

CLINVAR

Entrez Id:	6606
Gene Symbol:	SMN1

SMN1

CUI:	C0026827
Disease:	Muscle hypotonia

Muscle hypotonia

0.100

CausalMutation

CLINVAR

Entrez Id:	27241
Gene Symbol:	BBS9

BBS9

CUI:	C0026827
Disease:	Muscle hypotonia

Muscle hypotonia

0.100

CausalMutation

CLINVAR

Entrez Id:	6942
Gene Symbol:	TCF20

TCF20

CUI:	C0026827
Disease:	Muscle hypotonia

Muscle hypotonia

0.100

GeneticVariation

CLINVAR

Entrez Id:	127343
Gene Symbol:	DMBX1

DMBX1

CUI:	C0026827
Disease:	Muscle hypotonia

Muscle hypotonia

0.100

GeneticVariation

CLINVAR

Entrez Id:	81603
Gene Symbol:	TRIM8

TRIM8

CUI:	C0026827
Disease:	Muscle hypotonia

Muscle hypotonia

0.100

GeneticVariation

CLINVAR