CDC45, cell division cycle 45, 8318

N. diseases: 102; N. variants: 14
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: C4310738
Disease: MEIER-GORLIN SYNDROME 7
MEIER-GORLIN SYNDROME 7 		disease Disease or Syndrome 1 12 0.600 None 1.000 2 12 2015 2016
CUI: C4280330
Disease: Coronal synostosis
Coronal synostosis 		phenotype Finding 1 0.300 strong 1.000 1 2015 2015
CUI: C4021174
Disease: Microtia, third degree
Microtia, third degree 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Otorhinolaryngologic Diseases Anatomical Abnormality 10 0.100 None 0
CUI: C0702139
Disease: Congenital absence of external ear
Congenital absence of external ear 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Otorhinolaryngologic Diseases Congenital Abnormality 11 0.100 None 0
CUI: C4281771
Disease: Thin eyebrow
Thin eyebrow 		phenotype Finding 12 0.100 None 0
CUI: C0685776
Disease: Congenital absence of mandible
Congenital absence of mandible 		disease Congenital Abnormality 14 0.100 None 0
CUI: C1969653
Disease: MUNGAN SYNDROME
MUNGAN SYNDROME 		disease Digestive System Diseases; Neoplasms Disease or Syndrome 15 6 0.030 None 1.000 3 2016 2020
CUI: C0266009
Disease: Congenital absence of breast
Congenital absence of breast 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 15 0.100 None 0
CUI: C1868578
Disease: Patellar aplasia
Patellar aplasia 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 17 3 0.100 None 0
CUI: C1865285
Disease: Megalencephaly cutis marmorata telangiectatica congenita
Megalencephaly cutis marmorata telangiectatica congenita 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 18 18 0.010 None 1.000 1 2019 2019
CUI: C1857665
Disease: Aplastic clavicle
Aplastic clavicle 		phenotype Congenital Abnormality 19 0.100 None 0
CUI: C1868577
Disease: Patella aplasia-hypoplasia
Patella aplasia-hypoplasia 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Finding 20 1 0.100 None 0
CUI: C4551936
Disease: Anal Stenosis, CTCAE
Anal Stenosis, CTCAE 		phenotype Finding 27 0.100 None 0
CUI: C0262374
Disease: Stricture of anus
Stricture of anus 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Finding 28 1 0.100 None 0
CUI: C0238093
Disease: Stenosis of duodenum
Stenosis of duodenum 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Anatomical Abnormality 29 1 0.100 None 0
CUI: C0014588
Disease: Epispadias
Epispadias 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality 30 0.100 None 0
CUI: C1844527
Disease: Clitoral hypoplasia
Clitoral hypoplasia 		phenotype Finding 30 0.100 None 0
CUI: C1849295
Disease: Hypoplastic labia minora
Hypoplastic labia minora 		phenotype Finding 30 1 0.100 None 0
CUI: C0149651
Disease: Clubbing
Clubbing 		phenotype Sign or Symptom 32 1 0.100 None 0
CUI: C0032339
Disease: Rothmund-Thomson syndrome
Rothmund-Thomson syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 35 12 0.010 None 1.000 1 2005 2005
CUI: C0432123
Disease: Sagittal craniosynostosis
Sagittal craniosynostosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 35 13 0.100 None 0
CUI: C0566899
Disease: Small labia majora
Small labia majora 		phenotype Finding 35 3 0.100 None 0
CUI: C1833144
Disease: Slender long bone
Slender long bone 		phenotype Finding 35 5 0.100 None 0
CUI: C0041974
Disease: Urethral Stenosis
Urethral Stenosis 		phenotype Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 41 1 0.100 None 0
CUI: C0750929
Disease: Arnold-Chiari Malformation, Type I
Arnold-Chiari Malformation, Type I 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 41 1 0.100 None 0