CTNNB1, catenin beta 1, 1499

N. diseases: 70; N. variants: 52
Source: CLINVAR ×
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C3554449
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 19
MENTAL RETARDATION, AUTOSOMAL DOMINANT 19 		disease Disease or Syndrome 1 21 0.700 strong 1.000 3 21 1989 2017
CUI: C3887926
Disease: CATARACT 32, MULTIPLE TYPES
CATARACT 32, MULTIPLE TYPES 		disease Disease or Syndrome 1 1 0.100 None 1.000 3 1 1989 2017
CUI: C0030521
Disease: Parathyroid Neoplasms
Parathyroid Neoplasms 		group Neoplasms; Endocrine System Diseases Neoplastic Process 1 2 0.200 None 1.000 1 2 2002 2017
CUI: C0154828
Disease: Traction detachment of retina
Traction detachment of retina 		disease Eye Diseases Pathologic Function 1 1 0.100 None 0 1
CUI: C2675440
Disease: Desmoid Tumor Caused By Somatic Mutation
Desmoid Tumor Caused By Somatic Mutation 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms Disease or Syndrome 1 1 0.100 None 0 1
CUI: C4013429
Disease: Underdeveloped tragus
Underdeveloped tragus 		disease Anatomical Abnormality 1 1 0.100 None 0 1
CUI: C4023443
Disease: Absent antitragus
Absent antitragus 		disease Congenital Abnormality 1 1 0.100 None 0 1
CUI: C4072980
Disease: Exudative vitreoretinopathy
Exudative vitreoretinopathy 		disease Disease or Syndrome 1 1 0.100 None 0 1
CUI: C4476564
Disease: Abnormal brain lactate level by MRS
Abnormal brain lactate level by MRS 		phenotype Finding 1 1 0.100 None 0 1
CUI: C4539767
Disease: EXUDATIVE VITREORETINOPATHY 7
EXUDATIVE VITREORETINOPATHY 7 		disease Disease or Syndrome 1 3 0.600 strong 1.000 0 3 2017 2017
CUI: C0010276
Disease: Craniopharyngioma
Craniopharyngioma 		disease Neoplasms Neoplastic Process 2 4 0.700 None 1.000 1 3 2004 2019
CUI: C0014170
Disease: Endometrial Neoplasms
Endometrial Neoplasms 		group Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 2 13 0.120 None 1.000 1 3 2005 2014
CUI: C0206711
Disease: Pilomatrixoma
Pilomatrixoma 		disease Neoplasms Neoplastic Process 2 14 0.800 None 1.000 1 8 1999 2019
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		disease Digestive System Diseases; Neoplasms Neoplastic Process 2 2 0.500 None 0.976 1 1 1999 2019
CUI: C0039538
Disease: Teratoma
Teratoma 		disease Neoplasms Neoplastic Process 2 2 0.110 None 1.000 0 1 2007 2007
CUI: C1853246
Disease: Eversion of lower lip
Eversion of lower lip 		phenotype Finding 2 3 0.100 None 0 1
CUI: C0206624
Disease: Hepatoblastoma
Hepatoblastoma 		disease Neoplasms Neoplastic Process 3 5 0.700 None 0.981 0 3 1999 2019
CUI: C1865572
Disease: Proximal placement of thumb
Proximal placement of thumb 		phenotype Finding 3 3 0.100 None 0 1
CUI: C1851402
Disease: Exudative vitreoretinopathy 1
Exudative vitreoretinopathy 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 4 10 0.400 None 1.000 0 3 2017 2017
CUI: C3665983
Disease: Oral aversion
Oral aversion 		disease Mental or Behavioral Dysfunction 4 4 0.100 None 0 1
CUI: C1845245
Disease: Lower limb hypertonia
Lower limb hypertonia 		phenotype Finding 5 5 0.100 None 1.000 3 1 1989 2017
CUI: C1847524
Disease: Hyperopic astigmatism
Hyperopic astigmatism 		disease Eye Diseases Disease or Syndrome 5 5 0.100 None 0 1
CUI: C0023882
Disease: Little's Disease
Little's Disease 		disease Nervous System Diseases Disease or Syndrome 6 6 0.100 None 1.000 3 1 1989 2017
CUI: C0575897
Disease: Thumb deformity
Thumb deformity 		phenotype Musculoskeletal Diseases Finding 6 7 0.100 None 0 1
CUI: C0206686
Disease: Adrenocortical carcinoma
Adrenocortical carcinoma 		disease Neoplasms; Endocrine System Diseases Neoplastic Process 7 34 0.500 None 1.000 1 6 2005 2020