UROD, uroporphyrinogen decarboxylase, 7389

N. diseases: 166; N. variants: 31
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: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		disease Disease or Syndrome 1075 276 0.100 None 0.900 10 1985 2012
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease Mental or Behavioral Dysfunction 1825 553 0.020 None 1.000 2 1997 2006
CUI: C0472803
Disease: Hypodysfibrinogenemia
Hypodysfibrinogenemia 		disease Disease or Syndrome 8 1 0.010 None 1.000 1 2012 2012
CUI: C0740304
Disease: COPD exacerbation
COPD exacerbation 		disease Disease or Syndrome 33 2 0.010 None 1.000 1 2018 2018
CUI: C0744483
Disease: growth hormone treatment
growth hormone treatment 		disease Disease or Syndrome 20 1 0.010 None 1.000 1 2014 2014
CUI: C0854706
Disease: Neonatal infection
Neonatal infection 		disease Disease or Syndrome 17 0.010 None 1.000 1 2018 2018
CUI: C0865440
Disease: (non-specific) purulent meningitis
(non-specific) purulent meningitis 		disease Disease or Syndrome 6 0.010 None 1.000 1 2017 2017
CUI: C0878787
Disease: Growth failure
Growth failure 		phenotype Disease or Syndrome 84 7 0.010 None 1.000 1 2018 2018
CUI: C1386091
Disease: Acromicria
Acromicria 		disease Congenital Abnormality 13 0.010 None 1.000 1 2009 2009
CUI: C1402294
Disease: Primary Lesion
Primary Lesion 		phenotype Disease or Syndrome 71 8 0.010 None 1.000 1 1985 1985
CUI: C3825986
Disease: Meningitis in children
Meningitis in children 		disease Disease or Syndrome 9 0.010 None 1.000 1 2017 2017
CUI: C4546184
Disease: Imprinting error
Imprinting error 		disease Disease or Syndrome 1 0.010 None < 0.001 1 2006 2006
CUI: C4707010
Disease: Mosaic trisomy 2 syndrome
Mosaic trisomy 2 syndrome 		disease Disease or Syndrome 1 0.010 None 1.000 1 1997 1997
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		disease Neoplastic Process 3669 502 0.010 None 1.000 1 2019 2019
CUI: C0241181
Disease: Fragile skin
Fragile skin 		phenotype Finding 26 5 0.100 None 0
CUI: C0423757
Disease: Thin skin
Thin skin 		phenotype Finding 77 4 0.100 None 0
CUI: C0038443
Disease: Stress, Psychological
Stress, Psychological 		disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 199 24 0.010 None 1.000 1 2019 2019
CUI: C0086132
Disease: Depressive Symptoms
Depressive Symptoms 		phenotype Behavior and Behavior Mechanisms Sign or Symptom 421 120 0.010 None 1.000 1 2017 2017
CUI: C0014118
Disease: Endocarditis
Endocarditis 		disease Cardiovascular Diseases Disease or Syndrome 56 0.010 None 1.000 1 2017 2017
CUI: C0264714
Disease: Acute heart failure
Acute heart failure 		disease Cardiovascular Diseases Disease or Syndrome 89 0.010 None 1.000 1 2017 2017
CUI: C1541923
Disease: Infective endocarditis
Infective endocarditis 		disease Cardiovascular Diseases Disease or Syndrome 62 9 0.010 None 1.000 1 2017 2017
CUI: C0085762
Disease: Alcohol abuse
Alcohol abuse 		disease Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 156 24 0.010 None 1.000 1 2019 2019
CUI: C0004903
Disease: Beckwith-Wiedemann Syndrome
Beckwith-Wiedemann Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 107 84 0.040 None 0.750 4 1999 2011
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 757 47 0.010 None 1.000 1 2014 2014
CUI: C0175695
Disease: Sotos' syndrome
Sotos' syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 25 0.010 None 1.000 1 1997 1997