TP63, tumor protein p63, 8626

N. diseases: 816; N. variants: 64
Source: ALL
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: C0158113
Disease: Contracture of joint of hand
Contracture of joint of hand
disease Musculoskeletal Diseases Anatomical Abnormality 55 5 0.100 None 0
CUI: C0341059
Disease: Lip pit
Lip pit
disease Anatomical Abnormality 14 0.100 None 0
CUI: C0521620
Disease: Dilatation of ureter
Dilatation of ureter
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Anatomical Abnormality 72 2 0.100 None 0
CUI: C1846460
Disease: Abnormality of the outer ear
Abnormality of the outer ear
disease Anatomical Abnormality 95 8 0.100 None 0
CUI: C1858085
Disease: Malar flattening
Malar flattening
disease Anatomical Abnormality 190 12 0.100 None 0
CUI: C1858565
Disease: Duplicated collecting system
Duplicated collecting system
disease Anatomical Abnormality 19 1 0.100 None 0
Atresia of the external auditory canal
disease Anatomical Abnormality 44 3 0.100 None 0
CUI: C4021800
Disease: Abnormality of dental enamel
Abnormality of dental enamel
group Anatomical Abnormality 96 4 0.100 None 0
CUI: C4021801
Disease: Lacrimation abnormality
Lacrimation abnormality
disease Anatomical Abnormality 29 0.100 None 0
CUI: C4021881
Disease: Agenesis of lateral incisor
Agenesis of lateral incisor
phenotype Anatomical Abnormality 10 0.100 None 0
CUI: C4022716
Disease: Bilateral breast hypoplasia
Bilateral breast hypoplasia
disease Anatomical Abnormality 3 0.100 None 0
CUI: C4023573
Disease: Abnormal number of permanent teeth
Abnormal number of permanent teeth
phenotype Anatomical Abnormality 9 0.100 None 0
CUI: C4025062
Disease: Supernumerary maxillary incisor
Supernumerary maxillary incisor
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Anatomical Abnormality 5 0.100 None 0
CUI: C4025252
Disease: Abnormal nasal morphology
Abnormal nasal morphology
disease Anatomical Abnormality 34 0.100 None 0
CUI: C4025329
Disease: Abnormality of the anus
Abnormality of the anus
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Anatomical Abnormality 16 1 0.100 None 0
CUI: C4025750
Disease: Abnormality of the nasopharynx
Abnormality of the nasopharynx
disease Anatomical Abnormality 10 0.100 None 0
CUI: C4025893
Disease: Abnormality of the clitoris
Abnormality of the clitoris
disease Anatomical Abnormality 3 0.100 None 0
CUI: C4073190
Disease: Abnormality of masticatory muscle
Abnormality of masticatory muscle
phenotype Anatomical Abnormality 17 0.100 None 0
CUI: C4316811
Disease: Abnormality of the nasal septum
Abnormality of the nasal septum
phenotype Anatomical Abnormality 5 1 0.100 None 0
CUI: C2699510
Disease: Split-Hand/Foot Malformation
Split-Hand/Foot Malformation
disease Pathological Conditions, Signs and Symptoms Congenital Abnormality 50 6 0.100 None 1.000 31 2 2000 2019
CUI: C0265554
Disease: Ectrodactyly
Ectrodactyly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 36 2 0.500 None 1.000 23 1 2000 2019
CUI: C2931019
Disease: Split hand foot deformity 1
Split hand foot deformity 1
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 71 8 0.100 None 1.000 22 1 2000 2019
CUI: C0152233
Disease: Congenital ankyloblepharon
Congenital ankyloblepharon
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 18 0.200 None 0.929 14 2003 2017
CUI: C0158646
Disease: Cleft palate with cleft lip
Cleft palate with cleft lip
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality 119 43 0.390 None 1.000 10 2003 2019
CUI: C0008925
Disease: Cleft Palate
Cleft Palate
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality 611 158 0.450 None 1.000 7 1 2001 2019