FANCC, FA complementation group C, 2176

N. diseases: 218; N. variants: 90
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: C3665815
Disease: CYP2B6 polymorphism
CYP2B6 polymorphism 		disease Disease or Syndrome 2 1 0.010 None 1.000 1 2020 2020
CUI: C2750866
Disease: Growth retardation, pre- and postnatal
Growth retardation, pre- and postnatal 		phenotype Finding 3 0.300 strong 1.000 2 1992 2006
CUI: C4509024
Disease: Senile systemic amyloidosis (SSA)
Senile systemic amyloidosis (SSA) 		disease Disease or Syndrome 3 1 0.010 None 1.000 1 2001 2001
CUI: C4025639
Disease: Prolonged G2 phase of cell cycle
Prolonged G2 phase of cell cycle 		phenotype Cell or Molecular Dysfunction 4 0.100 None 0
CUI: C4025640
Disease: Deficient excision of UV-induced pyrimidine dimers in DNA
Deficient excision of UV-induced pyrimidine dimers in DNA 		phenotype Finding 4 0.100 None 0
CUI: C0546476
Disease: Multiple self-healing squamous epithelioma
Multiple self-healing squamous epithelioma 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6 0.010 None 1.000 1 2006 2006
CUI: C3554724
Disease: Complete duplication of thumb phalanx
Complete duplication of thumb phalanx 		phenotype Finding 8 1 0.100 None 0
CUI: C4021737
Disease: Chromosomal breakage induced by crosslinking agents
Chromosomal breakage induced by crosslinking agents 		phenotype Pathological Conditions, Signs and Symptoms Finding 8 0.100 None 0
CUI: C4025811
Disease: Anemic pallor
Anemic pallor 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 8 0.100 None 0
CUI: C4476793
Disease: Abnormal cell morphology
Abnormal cell morphology 		phenotype Anatomical Abnormality 12 1 0.010 None 1.000 1 2017 2017
CUI: C0456065
Disease: Infant, Extremely Low Birth Weight
Infant, Extremely Low Birth Weight 		phenotype Disease or Syndrome 15 1 0.010 None 1.000 1 2019 2019
CUI: C0154017
Disease: Benign neoplasm of bladder
Benign neoplasm of bladder 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 15 0.300 None 0
CUI: C0496930
Disease: Neoplasm of uncertain or unknown behavior of bladder
Neoplasm of uncertain or unknown behavior of bladder 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 15 0.300 None 0
CUI: C0004093
Disease: Asthenia
Asthenia 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 16 3 0.010 None 1.000 1 2020 2020
CUI: C0154091
Disease: Carcinoma in situ of bladder
Carcinoma in situ of bladder 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 16 0.300 None 0
CUI: C0858867
Disease: Reticulocytopenia
Reticulocytopenia 		phenotype Finding 17 0.100 None 0
CUI: C1858565
Disease: Duplicated collecting system
Duplicated collecting system 		disease Anatomical Abnormality 19 1 0.100 None 0
CUI: C1861028
Disease: Esophageal atresia with or without tracheoesophageal fistula
Esophageal atresia with or without tracheoesophageal fistula 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases Disease or Syndrome 19 12 0.100 None 0 1
CUI: C0241391
Disease: Thumb absent
Thumb absent 		phenotype Finding 21 0.100 None 0
CUI: C3468041
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP C
FANCONI ANEMIA, COMPLEMENTATION GROUP C 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 22 73 0.950 definitive 1.000 59 72 1992 2018
CUI: C3278811
Disease: Thumb aplasia
Thumb aplasia 		disease Musculoskeletal Diseases Congenital Abnormality 22 0.100 None 0
CUI: C4022016
Disease: Abnormality of the preputium
Abnormality of the preputium 		disease Anatomical Abnormality 22 0.100 None 0
CUI: C4023917
Disease: Aplasia/Hypoplasia of the uvula
Aplasia/Hypoplasia of the uvula 		phenotype Anatomical Abnormality 22 0.100 None 0
CUI: C4025071
Disease: Aplasia/Hypoplasia of fingers
Aplasia/Hypoplasia of fingers 		phenotype Anatomical Abnormality 22 0.100 None 0
CUI: C1096616
Disease: Contralateral breast cancer
Contralateral breast cancer 		disease Neoplastic Process 24 4 0.010 None < 0.001 1 2013 2013