CEP57, centrosomal protein 57, 9702

N. diseases: 89; N. variants: 9
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: C3279843
Disease: MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2
MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2 		disease Disease or Syndrome 1 3 0.600 definitive 1.000 11 3 2002 2019
CUI: C0021704
Disease: Intelligence
Intelligence 		phenotype Behavior and Behavior Mechanisms Mental Process 645 2093 0.100 None 1.000 4 3 2017 2019
CUI: C1850343
Disease: Mosaic variegated aneuploidy syndrome 1
Mosaic variegated aneuploidy syndrome 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 10 20 0.640 None 1.000 5 2 2011 2019
CUI: C0596887
Disease: mathematical ability
mathematical ability 		phenotype Mental Process 854 2127 0.100 None 1.000 1 1 2018 2018
CUI: C1304746
Disease: RDW - Red blood cell distribution width result
RDW - Red blood cell distribution width result 		phenotype Laboratory or Test Result 593 988 0.100 None 1.000 1 1 2019 2019
CUI: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		phenotype Laboratory Procedure 593 988 0.100 None 1.000 1 1 2019 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms 		group Neoplasms Neoplastic Process 10161 1644 0.050 None 1.000 5 2001 2019
CUI: C4551972
Disease: Mosaic variegated aneuploidy syndrome
Mosaic variegated aneuploidy syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms Disease or Syndrome 5 0.040 None 1.000 4 2011 2019
CUI: C4733331
Disease: mosaic variegated aneuploidy
mosaic variegated aneuploidy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms Disease or Syndrome 7 0.020 None 1.000 2 2014 2018
CUI: C2931286
Disease: Warburton Anyane Yeboa syndrome
Warburton Anyane Yeboa syndrome 		phenotype Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 5 0.300 None 1.000 2 2011 2014
CUI: C2931383
Disease: Chromosomal mosaicism due to mitotic instability
Chromosomal mosaicism due to mitotic instability 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities Cell or Molecular Dysfunction 3 0.300 None 1.000 2 2011 2017
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		group Neoplasms Neoplastic Process 8621 1641 0.020 None 1.000 2 2001 2018
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6776 2793 0.020 None 1.000 2 2001 2011
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6941 3417 0.010 None 1.000 1 2001 2001
CUI: C1866730
Disease: Rhizomelia
Rhizomelia 		disease Congenital Abnormality 57 6 0.010 None 1.000 1 2019 2019
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		group Neoplasms Neoplastic Process 8221 1374 0.010 None 1.000 1 2018 2018
CUI: C0027654
Disease: Embryonal Neoplasm
Embryonal Neoplasm 		disease Neoplasms Neoplastic Process 57 2 0.010 None < 0.001 1 2017 2017
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		disease Neoplasms; Male Urogenital Diseases Neoplastic Process 4502 1082 0.010 None 1.000 1 2013 2013
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		disease Neoplasms; Male Urogenital Diseases Neoplastic Process 4388 1168 0.010 None 1.000 1 2013 2013
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		disease Neoplasms; Eye Diseases Neoplastic Process 853 193 0.010 None 1.000 1 2013 2013
CUI: C0686619
Disease: Secondary malignant neoplasm of lymph node
Secondary malignant neoplasm of lymph node 		disease Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 2825 188 0.010 None 1.000 1 2011 2011
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease Mental or Behavioral Dysfunction 1825 553 0.100 None 0
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		disease Congenital Abnormality 417 30 0.100 None 0
CUI: C1835884
Disease: Triangular face
Triangular face 		phenotype Finding 111 16 0.100 None 0
CUI: C1384666
Disease: hearing impairment
hearing impairment 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 740 337 0.100 None 0