Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 8924
Gene Symbol: HERC2
HERC2
CUI: C3809753
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 38
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 38 		0.700 CausalMutation CLINVAR

Entrez Id: 8924
Gene Symbol: HERC2
HERC2
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.100 CausalMutation CLINVAR Activating HER2 mutations in HER2 gene amplification negative breast cancer. 23220880

2013
Entrez Id: 8924
Gene Symbol: HERC2
HERC2
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.100 CausalMutation CLINVAR Somatic mutations of ERBB2 kinase domain in gastric, colorectal, and breast carcinomas. 16397024

2006
Entrez Id: 8924
Gene Symbol: HERC2
HERC2
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		0.100 CausalMutation CLINVAR

Entrez Id: 8924
Gene Symbol: HERC2
HERC2
CUI: C0221166
Disease: Paraparesis
Paraparesis 		0.100 CausalMutation CLINVAR

Entrez Id: 8924
Gene Symbol: HERC2
HERC2
CUI: C0241816
Disease: Global brain atrophy
Global brain atrophy 		0.100 CausalMutation CLINVAR

Entrez Id: 8924
Gene Symbol: HERC2
HERC2
CUI: C0338502
Disease: Hypoplasia of the optic nerve
Hypoplasia of the optic nerve 		0.100 CausalMutation CLINVAR

Entrez Id: 8924
Gene Symbol: HERC2
HERC2
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		0.100 CausalMutation CLINVAR

Entrez Id: 8924
Gene Symbol: HERC2
HERC2
CUI: C1854301
Disease: Motor delay
Motor delay 		0.100 CausalMutation CLINVAR

Entrez Id: 8924
Gene Symbol: HERC2
HERC2
CUI: C1856895
Disease: SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 1
SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 1 		0.100 GeneticVariation CLINVAR

Entrez Id: 8924
Gene Symbol: HERC2
HERC2
CUI: C2267233
Disease: Neonatal Hypotonia
Neonatal Hypotonia 		0.100 CausalMutation CLINVAR

Entrez Id: 8924
Gene Symbol: HERC2
HERC2
CUI: C3279222
Disease: Aplasia/Hypoplasia of the cerebellum
Aplasia/Hypoplasia of the cerebellum 		0.100 CausalMutation CLINVAR