POC1A, POC1 centriolar protein A, 25886

N. diseases: 59; N. variants: 3
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: C0741682
Disease: Premenopausal breast cancer
Premenopausal breast cancer
disease Neoplastic Process 51 18 0.010 None 1.000 1 2018 2018
CUI: C3553735
Disease: Microcephaly in adulthood
Microcephaly in adulthood
phenotype Finding 1 0.300 strong 1.000 1 2016 2016
FANCONI ANEMIA, COMPLEMENTATION GROUP Q
disease Disease or Syndrome 4 7 0.300 strong 1.000 1 2012 2012
CUI: C0241703
Disease: High pitched voice
High pitched voice
phenotype Finding 35 1 0.100 None 0
CUI: C0426415
Disease: Large nose
Large nose
phenotype Finding 70 7 0.100 None 0
CUI: C0575802
Disease: Small hand
Small hand
phenotype Finding 108 31 0.100 None 0
CUI: C1835884
Disease: Triangular face
Triangular face
phenotype Finding 111 16 0.100 None 0
CUI: C1836047
Disease: Long face
Long face
phenotype Finding 182 12 0.100 None 0
CUI: C1836184
Disease: Short femoral neck
Short femoral neck
phenotype Finding 31 0.100 None 0
CUI: C1837084
Disease: Short metacarpal
Short metacarpal
phenotype Finding 66 7 0.100 None 0
CUI: C1837260
Disease: Prominent forehead
Prominent forehead
phenotype Finding 159 25 0.100 None 0
CUI: C1837770
Disease: Sparse hair
Sparse hair
phenotype Finding 112 9 0.100 None 0
CUI: C1839829
Disease: Short distal phalanx of finger
Short distal phalanx of finger
phenotype Finding 85 3 0.100 None 0
CUI: C1844505
Disease: Pointed chin
Pointed chin
phenotype Finding 71 13 0.100 None 0
CUI: C1849020
Disease: Short metatarsal
Short metatarsal
phenotype Finding 34 1 0.100 None 0
CUI: C1865037
Disease: Cone-shaped epiphysis
Cone-shaped epiphysis
phenotype Finding 49 2 0.100 None 0
CUI: C1970816
Disease: Hypoplastic sacrum
Hypoplastic sacrum
phenotype Finding 3 2 0.100 None 0
NAIL DISORDER, NONSYNDROMIC CONGENITAL, 9
disease Disease or Syndrome 77 1 0.100 None 0
CUI: C3536734
Disease: Hypoplastic pelvis
Hypoplastic pelvis
disease Anatomical Abnormality 15 2 0.100 None 0
CUI: C4551485
Disease: Clinodactyly
Clinodactyly
disease Congenital Abnormality 148 18 0.100 None 0
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
disease Cardiovascular Diseases Disease or Syndrome 1708 1577 0.030 None 1.000 3 2017 2019
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease
disease Cardiovascular Diseases Disease or Syndrome 1576 1178 0.020 None 1.000 2 2014 2019
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis
disease Cardiovascular Diseases Disease or Syndrome 1282 440 0.010 None 1.000 1 2019 2019
CUI: C0151744
Disease: Myocardial Ischemia
Myocardial Ischemia
disease Cardiovascular Diseases Disease or Syndrome 756 103 0.010 None 1.000 1 2018 2018
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 1098 73 0.010 None 1.000 1 2016 2016