Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3265
Gene Symbol: HRAS
HRAS
CUI: C4552097
Disease: Nevus Sebaceus of Jadassohn
Nevus Sebaceus of Jadassohn 		0.720 CausalMutation CLINVAR

Entrez Id: 3265
Gene Symbol: HRAS
HRAS
CUI: C0265329
Disease: Organoid Nevus Phakomatosis
Organoid Nevus Phakomatosis 		0.710 CausalMutation CLINVAR

Entrez Id: 3265
Gene Symbol: HRAS
HRAS
CUI: C0005684
Disease: Malignant neoplasm of urinary bladder
Malignant neoplasm of urinary bladder 		0.700 CausalMutation CLINVAR

Entrez Id: 3265
Gene Symbol: HRAS
HRAS
CUI: C0334082
Disease: NEVUS, EPIDERMAL (disorder)
NEVUS, EPIDERMAL (disorder) 		0.420 CausalMutation CLINVAR

Entrez Id: 3265
Gene Symbol: HRAS
HRAS
CUI: C0343114
Disease: Woolly hair nevus
Woolly hair nevus 		0.400 CausalMutation CLINVAR

Entrez Id: 3265
Gene Symbol: HRAS
HRAS
CUI: C1842036
Disease: GIANT PIGMENTED HAIRY NEVUS
GIANT PIGMENTED HAIRY NEVUS 		0.400 CausalMutation CLINVAR

Entrez Id: 3265
Gene Symbol: HRAS
HRAS
CUI: C4225426
Disease: THYROID CANCER, NONMEDULLARY, 2
THYROID CANCER, NONMEDULLARY, 2 		0.400 CausalMutation CLINVAR

Entrez Id: 3265
Gene Symbol: HRAS
HRAS
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1 		0.400 CausalMutation CLINVAR

Entrez Id: 3265
Gene Symbol: HRAS
HRAS
CUI: C0334517
Disease: Spermatocytic seminoma
Spermatocytic seminoma 		0.110 CausalMutation CLINVAR

Entrez Id: 3265
Gene Symbol: HRAS
HRAS
CUI: C0020305
Disease: Hydrops Fetalis
Hydrops Fetalis 		0.100 CausalMutation CLINVAR

Entrez Id: 3265
Gene Symbol: HRAS
HRAS
CUI: C0431478
Disease: Posteriorly rotated ear
Posteriorly rotated ear 		0.100 CausalMutation CLINVAR

Entrez Id: 3265
Gene Symbol: HRAS
HRAS
CUI: C0521525
Disease: Short neck
Short neck 		0.100 CausalMutation CLINVAR

Entrez Id: 3265
Gene Symbol: HRAS
HRAS
CUI: C1968782
Disease: MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES
MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES 		0.100 CausalMutation CLINVAR

Entrez Id: 3265
Gene Symbol: HRAS
HRAS
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.100 CausalMutation CLINVAR

Entrez Id: 3265
Gene Symbol: HRAS
HRAS
CUI: C3277679
Disease: EPIDERMAL NEVUS WITH UROTHELIAL CANCER, SOMATIC
EPIDERMAL NEVUS WITH UROTHELIAL CANCER, SOMATIC 		0.100 CausalMutation CLINVAR

Entrez Id: 3265
Gene Symbol: HRAS
HRAS
CUI: C4016398
Disease: COSTELLO SYNDROME, SEVERE
COSTELLO SYNDROME, SEVERE 		0.100 CausalMutation CLINVAR

Entrez Id: 3265
Gene Symbol: HRAS
HRAS
CUI: C4225656
Disease: SPITZ NEVUS, SOMATIC
SPITZ NEVUS, SOMATIC 		0.100 CausalMutation CLINVAR

Entrez Id: 3265
Gene Symbol: HRAS
HRAS
CUI: C4225657
Disease: NEVUS SPILUS, SOMATIC
NEVUS SPILUS, SOMATIC 		0.100 CausalMutation CLINVAR

Entrez Id: 3265
Gene Symbol: HRAS
HRAS
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder) 		1.000 CausalMutation CLINVAR HRAS mutation analysis has been undertaken in 74 predominantly British patients with a possible diagnosis of CS. 18039947

2008
Entrez Id: 3265
Gene Symbol: HRAS
HRAS
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder) 		1.000 CausalMutation CLINVAR A de novo heterozygous HRAS change was detected in all the subjects diagnosed with CS, while no lesion was observed with any of the other phenotypes. 17054105

2007
Entrez Id: 3265
Gene Symbol: HRAS
HRAS
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder) 		1.000 GeneticVariation CLINVAR A de novo heterozygous HRAS change was detected in all the subjects diagnosed with CS, while no lesion was observed with any of the other phenotypes. 17054105

2007
Entrez Id: 3265
Gene Symbol: HRAS
HRAS
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder) 		1.000 CausalMutation CLINVAR A structural systems biology approach for quantifying the systemic consequences of missense mutations in proteins. 23093928

2012
Entrez Id: 3265
Gene Symbol: HRAS
HRAS
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder) 		1.000 GeneticVariation CLINVAR A structural systems biology approach for quantifying the systemic consequences of missense mutations in proteins. 23093928

2012
Entrez Id: 3265
Gene Symbol: HRAS
HRAS
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation CLINVAR Aberrant HRAS transcript processing underlies a distinctive phenotype within the RASopathy clinical spectrum. 28390077

2017
Entrez Id: 3265
Gene Symbol: HRAS
HRAS
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation CLINVAR An attenuated phenotype of Costello syndrome in three unrelated individuals with a HRAS c.179G>A (p.Gly60Asp) mutation correlates with uncommon functional consequences. 25914166

2015