rs121913279, PIK3CA

N. diseases: 101
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.820 CausalMutation CLINVAR
CLAPO Syndrome
CUI: C2751313
Disease: CLAPO Syndrome
0.800 CausalMutation CLINVAR
Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi
CUI: C2752042
Disease: Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi
0.800 CausalMutation CLINVAR
Seborrheic keratosis
CUI: C0022603
Disease: Seborrheic keratosis
0.800 CausalMutation CLINVAR
Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi
CUI: C2752042
Disease: Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi
0.800 CausalMutation CLINVAR
Liver carcinoma
CUI: C2239176
Disease: Liver carcinoma
0.730 CausalMutation CLINVAR
Rosette-forming glioneuronal neoplasm
CUI: C4331262
Disease: Rosette-forming glioneuronal neoplasm
0.700 CausalMutation CLINVAR
Lhermitte-Duclos disease
CUI: C0391826
Disease: Lhermitte-Duclos disease
0.700 CausalMutation CLINVAR
Overgrowth
CUI: C1849265
Disease: Overgrowth
0.700 CausalMutation CLINVAR
Cerebellar Granule Cell Hypertrophy and Megalencephaly
CUI: C1834712
Disease: Cerebellar Granule Cell Hypertrophy and Megalencephaly
0.700 CausalMutation CLINVAR
PIK3CA related overgrowth spectrum
CUI: C4728213
Disease: PIK3CA related overgrowth spectrum
0.700 CausalMutation CLINVAR
Breast adenocarcinoma
CUI: C0858252
Disease: Breast adenocarcinoma
0.700 CausalMutation CLINVAR
Cerebrovascular accident
CUI: C0038454
Disease: Cerebrovascular accident
0.700 CausalMutation CLINVAR
Epithelial ovarian cancer
CUI: C0677886
Disease: Epithelial ovarian cancer
0.700 CausalMutation CLINVAR
MACRODACTYLY, SOMATIC
CUI: C4749056
Disease: MACRODACTYLY, SOMATIC
0.700 CausalMutation CLINVAR
Pten Hamartoma Tumor Syndrome With Granular Cell Tumor
CUI: C1866376
Disease: Pten Hamartoma Tumor Syndrome With Granular Cell Tumor
0.700 CausalMutation CLINVAR
PTEN Hamartoma Tumor Syndrome
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
0.700 CausalMutation CLINVAR
CEREBELLOPARENCHYMAL DISORDER VI
CUI: C1834711
Disease: CEREBELLOPARENCHYMAL DISORDER VI
0.700 CausalMutation CLINVAR
Proteus-Like Syndrome (disorder)
CUI: C1866398
Disease: Proteus-Like Syndrome (disorder)
0.700 CausalMutation CLINVAR
Hamartoma Syndrome, Multiple
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
0.700 CausalMutation CLINVAR
PIK3CA related overgrowth spectrum
CUI: C4728213
Disease: PIK3CA related overgrowth spectrum
0.700 CausalMutation CLINVAR
Breast adenocarcinoma
CUI: C0858252
Disease: Breast adenocarcinoma
0.700 CausalMutation CLINVAR
Macrodactyly of toe
CUI: C0158768
Disease: Macrodactyly of toe
0.700 CausalMutation CLINVAR
Stomach Neoplasms
CUI: C0038356
Disease: Stomach Neoplasms
0.700 CausalMutation CLINVAR
Congenital macrodactylia
CUI: C0265552
Disease: Congenital macrodactylia
0.710 GeneticVariation BEFREE A mosaic gain-of-function mutation in the catalytic domain of PIK3CA (c.3140 A > G; p.His1047Arg) was detected in the adipose tissue and in skin cultured fibroblasts from the macrodactyly but not in blood. 28867506 2017