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: 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: C1623038
Disease: Cirrhosis
Cirrhosis 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 919 110 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: C2239176
Disease: Liver carcinoma
Liver carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 5725 942 0.100 None 0
CUI: C0241181
Disease: Fragile skin
Fragile skin 		phenotype Finding 26 5 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: C0349506
Disease: Photosensitivity of skin
Photosensitivity of skin 		phenotype Skin and Connective Tissue Diseases Pathologic Function 91 3 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: C0011644
Disease: Scleroderma
Scleroderma 		disease Skin and Connective Tissue Diseases Disease or Syndrome 316 5 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: 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: C0162566
Disease: Porphyria Cutanea Tarda
Porphyria Cutanea Tarda 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 30 39 0.900 None 0.988 85 26 1976 2019
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: C0037274
Disease: Dermatologic disorders
Dermatologic disorders 		group Skin and Connective Tissue Diseases Disease or Syndrome 617 21 0.030 None 1.000 3 1978 2019
CUI: C0268323
Disease: Familial porphyria cutanea tarda
Familial porphyria cutanea tarda 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 2 6 0.200 None 0.912 34 4 1980 2019
CUI: C0162569
Disease: Hepatoerythropoietic Porphyria
Hepatoerythropoietic Porphyria 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 3 7 0.500 None 0.929 28 7 1981 2019
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: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		disease Disease or Syndrome 1075 276 0.100 None 0.900 10 1985 2012
CUI: C1276127
Disease: Sporadic porphyria cutanea tarda
Sporadic porphyria cutanea tarda 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 4 3 0.050 None 0.800 5 1985 2002
CUI: C0948120
Disease: Hepatic siderosis
Hepatic siderosis 		disease Nutritional and Metabolic Diseases Disease or Syndrome 8 1 0.020 None 1.000 2 1985 2001
CUI: C1402294
Disease: Primary Lesion
Primary Lesion 		phenotype Disease or Syndrome 71 8 0.010 None 1.000 1 1985 1985
CUI: C0032708
Disease: Disorders of Porphyrin Metabolism
Disorders of Porphyrin Metabolism 		group Nutritional and Metabolic Diseases Disease or Syndrome 26 7 0.100 None 1.000 17 1 1986 2019
CUI: C0162565
Disease: Acute intermittent porphyria
Acute intermittent porphyria 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 103 68 0.030 None 1.000 3 1989 2002
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