rs121913403, CTNNB1

N. diseases: 10
Source: BEFREE ×
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Pilomatrixoma
CUI: C0206711
Disease: Pilomatrixoma
0.810 GeneticVariation BEFREE These included 5 different point mutations, 3 of them identified in 2 different tumors: S23N (cribriform trichoblastoma), D32Y (pilomatricoma and craniopharyngioma), G34R (pilomatrical carcinoma and craniopharyngioma), S37F (2 BCCs with shadow cell differentiation), and G34V (craniopharyngioma). 19384065 2009
Craniopharyngioma
CUI: C0010276
Disease: Craniopharyngioma
0.010 GeneticVariation BEFREE These included 5 different point mutations, 3 of them identified in 2 different tumors: S23N (cribriform trichoblastoma), D32Y (pilomatricoma and craniopharyngioma), G34R (pilomatrical carcinoma and craniopharyngioma), S37F (2 BCCs with shadow cell differentiation), and G34V (craniopharyngioma). 19384065 2009
Pilomatrix carcinoma of skin
CUI: C0585475
Disease: Pilomatrix carcinoma of skin
0.010 GeneticVariation BEFREE These included 5 different point mutations, 3 of them identified in 2 different tumors: S23N (cribriform trichoblastoma), D32Y (pilomatricoma and craniopharyngioma), G34R (pilomatrical carcinoma and craniopharyngioma), S37F (2 BCCs with shadow cell differentiation), and G34V (craniopharyngioma). 19384065 2009
Carcinoma, Basal Cell
CUI: C4721806
Disease: Carcinoma, Basal Cell
0.010 GeneticVariation BEFREE These included 5 different point mutations, 3 of them identified in 2 different tumors: S23N (cribriform trichoblastoma), D32Y (pilomatricoma and craniopharyngioma), G34R (pilomatrical carcinoma and craniopharyngioma), S37F (2 BCCs with shadow cell differentiation), and G34V (craniopharyngioma). 19384065 2009
Adult Craniopharyngioma
CUI: C0278875
Disease: Adult Craniopharyngioma
0.010 GeneticVariation BEFREE These included 5 different point mutations, 3 of them identified in 2 different tumors: S23N (cribriform trichoblastoma), D32Y (pilomatricoma and craniopharyngioma), G34R (pilomatrical carcinoma and craniopharyngioma), S37F (2 BCCs with shadow cell differentiation), and G34V (craniopharyngioma). 19384065 2009
Childhood Craniopharyngioma
CUI: C0278652
Disease: Childhood Craniopharyngioma
0.010 GeneticVariation BEFREE These included 5 different point mutations, 3 of them identified in 2 different tumors: S23N (cribriform trichoblastoma), D32Y (pilomatricoma and craniopharyngioma), G34R (pilomatrical carcinoma and craniopharyngioma), S37F (2 BCCs with shadow cell differentiation), and G34V (craniopharyngioma). 19384065 2009
Neoplasm Metastasis
CUI: C0027627
Disease: Neoplasm Metastasis
0.010 GeneticVariation BEFREE Single strand conformation polymorphism and neucleotide sequencing analysis confirmed a TCT right curved arrow TTT somatic mutation at codon 37 changing serine to phenylalanine in one of the primary tumors and its corresponding metastatic tumor. 12632098 2003
Supratentorial Embryonal Tumor, Not Otherwise Specified
CUI: C1336538
Disease: Supratentorial Embryonal Tumor, Not Otherwise Specified
0.010 GeneticVariation BEFREE These mutations caused amino acid substitutions in 3 of 80 medulloblastomas (Ser33Phe, Ser33Cys and Ser37Cys) and 1 of 4 supratentorial PNETs (Gly34Val). 11433413 2001
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.010 GeneticVariation BEFREE Heterozygous substitution mutations at codon 37 in two cases (S37F and S37C) and at codon 41 in one case (T41A) were found in three endometrioid lesions (one borderline tumor and two carcinomas) with abnormal beta-catenin expression. 9537226 1998
Carcinoma
CUI: C0007097
Disease: Carcinoma
0.010 GeneticVariation BEFREE Heterozygous substitution mutations at codon 37 in two cases (S37F and S37C) and at codon 41 in one case (T41A) were found in three endometrioid lesions (one borderline tumor and two carcinomas) with abnormal beta-catenin expression. 9537226 1998