DisGeNET - a database of gene-disease associations

rs1217391623, SPG7

N. diseases: 11

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

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Dysdiadochokinesis

CUI:	C0234979
Disease:	Dysdiadochokinesis

0.700

CausalMutation

CLINVAR

Nystagmus

CUI:	C0028738
Disease:	Nystagmus

0.700

CausalMutation

CLINVAR

Abnormal delivery

CUI:	C0549629
Disease:	Abnormal delivery

0.700

CausalMutation

CLINVAR

SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE

CUI:	C1846564
Disease:	SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE

0.700

CausalMutation

CLINVAR

Muscle Spasticity

CUI:	C0026838
Disease:	Muscle Spasticity

0.700

CausalMutation

CLINVAR

Primary Caesarian section

CUI:	C4072903
Disease:	Primary Caesarian section

0.700

CausalMutation

CLINVAR

Muscle Weakness

CUI:	C0151786
Disease:	Muscle Weakness

0.700

CausalMutation

CLINVAR

Gait Ataxia

CUI:	C0751837
Disease:	Gait Ataxia

0.700

CausalMutation

CLINVAR

Abnormality of the optic nerve

CUI:	C0029131
Disease:	Abnormality of the optic nerve

0.700

CausalMutation

CLINVAR

Dysarthria

CUI:	C0013362
Disease:	Dysarthria

0.700

CausalMutation

CLINVAR

Gait, Unsteady

CUI:	C0231686
Disease:	Gait, Unsteady

0.700

CausalMutation

CLINVAR