DisGeNET - a database of gene-disease associations

NSMCE2, NSE2 (MMS21) homolog, SMC5-SMC6 complex SUMO ligase, 286053

N. diseases: 50; N. variants: 9

Disease: SECKEL SYNDROME 10 ×

Source: ALL

Results per page

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

Disease

Score _gda

Association Type

Type

Original DB

Sentence supporting the association

PMID

PMID Year

CUI:	C4310647
Disease:	SECKEL SYNDROME 10

SECKEL SYNDROME 10

0.400

Biomarker

disease

GENOMICS_ENGLAND

Hypomorphism in human NSMCE2 linked to primordial dwarfism and insulin resistance.

2014

CUI:	C4310647
Disease:	SECKEL SYNDROME 10

SECKEL SYNDROME 10

0.400

CausalMutation

disease

CLINVAR