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: C0011644
Disease: Scleroderma
Scleroderma 		disease Skin and Connective Tissue Diseases Disease or Syndrome 316 5 0.100 None 0
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma 		disease Skin and Connective Tissue Diseases Disease or Syndrome 979 287 0.100 None 0
CUI: C1851400
Disease: Facial Hypertrichosis
Facial Hypertrichosis 		phenotype Skin and Connective Tissue Diseases Finding 8 2 0.100 None 0
CUI: C0349506
Disease: Photosensitivity of skin
Photosensitivity of skin 		phenotype Skin and Connective Tissue Diseases Pathologic Function 91 3 0.100 None 0
CUI: C1623038
Disease: Cirrhosis
Cirrhosis 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 919 110 0.100 None 0
CUI: C3805877
Disease: Hyperpigmentation in sun-exposed areas
Hyperpigmentation in sun-exposed areas 		phenotype Skin and Connective Tissue Diseases Finding 3 0.100 None 0
CUI: C0085661
Disease: Onycholysis
Onycholysis 		disease Skin and Connective Tissue Diseases Disease or Syndrome 15 0.100 None 0
CUI: C0423757
Disease: Thin skin
Thin skin 		phenotype Finding 77 4 0.100 None 0
CUI: C0002878
Disease: Anemia, Hemolytic
Anemia, Hemolytic 		disease Hemic and Lymphatic Diseases Disease or Syndrome 154 31 0.100 None 0
CUI: C0241181
Disease: Fragile skin
Fragile skin 		phenotype Finding 26 5 0.100 None 0
CUI: C0002170
Disease: Alopecia
Alopecia 		disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 491 375 0.100 None 0
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 5725 942 0.100 None 0
CUI: C0023896
Disease: Alcoholic Liver Diseases
Alcoholic Liver Diseases 		group Digestive System Diseases; Chemically-Induced Disorders Disease or Syndrome 195 20 0.010 None 1.000 1 1976 1976
CUI: C0162533
Disease: Porphyrias, Hepatic
Porphyrias, Hepatic 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 7 0.200 None 1.000 1 1984 1984
CUI: C1402294
Disease: Primary Lesion
Primary Lesion 		phenotype Disease or Syndrome 71 8 0.010 None 1.000 1 1985 1985
CUI: C1867968
Disease: Porphyria Cutanea Tarda, Type I
Porphyria Cutanea Tarda, Type I 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 1 1 0.110 None 1.000 1 1 1989 1989
CUI: C0017551
Disease: Gilbert Disease (disorder)
Gilbert Disease (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 40 29 0.010 None 1.000 1 1996 1996
CUI: C2931707
Disease: Chromosome 15, trisomy mosaicism
Chromosome 15, trisomy mosaicism 		phenotype Pathological Conditions, Signs and Symptoms Disease or Syndrome 1 0.010 None 1.000 1 1996 1996
CUI: C0795801
Disease: trisomy 2
trisomy 2 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 8 0.010 None 1.000 1 1997 1997
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
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: C0032051
Disease: Placental Insufficiency
Placental Insufficiency 		disease Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 45 0.010 None 1.000 1 1997 1997
CUI: C0018995
Disease: Hemochromatosis
Hemochromatosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 93 45 0.010 None < 0.001 1 1998 1998
CUI: C3469186
Disease: HEMOCHROMATOSIS, TYPE 1
HEMOCHROMATOSIS, TYPE 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 83 62 0.010 None < 0.001 1 1998 1998
CUI: C0015934
Disease: Fetal Growth Retardation
Fetal Growth Retardation 		phenotype Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 1037 21 0.020 None 1.000 2 1997 1999