DisGeNET - a database of gene-disease associations

HRAS, HRas proto-oncogene, GTPase, 3265

N. diseases: 698; N. variants: 29

Disease: Noonan Syndrome 1 ×

Source: ALL

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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

Disease

Score _gda

Association Type

Type

Original DB

Sentence supporting the association

PMID

PMID Year

CUI:	C4551602
Disease:	Noonan Syndrome 1

Noonan Syndrome 1

0.400

Biomarker

disease

CTD_human

Cardiofaciocutaneous (CFC) syndrome associated with muscular coenzyme Q10 deficiency.

2007

CUI:	C4551602
Disease:	Noonan Syndrome 1

Noonan Syndrome 1

0.400

CausalMutation

disease

CLINVAR