EBP, EBP cholestenol delta-isomerase, 10682

N. diseases: 243; N. variants: 42
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: C0333662
Disease: Hemiatrophy
Hemiatrophy 		phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 1 0.100 None 0
CUI: C1840013
Disease: Elevated 8-dehydrocholesterol
Elevated 8-dehydrocholesterol 		phenotype Finding 1 0.100 None 0
CUI: C1840014
Disease: Elevated 8(9)-cholestenol
Elevated 8(9)-cholestenol 		phenotype Finding 1 0.100 None 0
CUI: C1844846
Disease: Stippled calcification in carpal bones
Stippled calcification in carpal bones 		phenotype Finding 1 0.100 None 0
CUI: C1844848
Disease: Tarsal stippling
Tarsal stippling 		phenotype Finding 1 0.100 None 0
CUI: C2610861
Disease: 2-succinyl-5-enolpyruvyl-6-hydroxy-3-cyclohexene-1-carboxylic-acid synthase activity
2-succinyl-5-enolpyruvyl-6-hydroxy-3-cyclohexene-1-carboxylic-acid synthase activity 		phenotype Molecular Function 1 0.300 strong 0
CUI: C4016464
Disease: CHONDRODYSPLASIA PUNCTATA 2, X-LINKED DOMINANT, ATYPICAL
CHONDRODYSPLASIA PUNCTATA 2, X-LINKED DOMINANT, ATYPICAL 		disease Finding 1 1 0.100 None 0 1
CUI: C4024153
Disease: Asymmetry of the mouth
Asymmetry of the mouth 		phenotype Finding 1 0.100 None 0
CUI: C0263627
Disease: Calcinosis universalis
Calcinosis universalis 		disease Nutritional and Metabolic Diseases Disease or Syndrome 2 0.210 None 1.000 1 2004 2004
CUI: C0271402
Disease: Scleral abscess
Scleral abscess 		phenotype Pathological Conditions, Signs and Symptoms; Infections; Eye Diseases Disease or Syndrome 2 0.010 None 1.000 1 2017 2017
CUI: C4024678
Disease: Punctate vertebral calcifications
Punctate vertebral calcifications 		disease Anatomical Abnormality 2 0.100 None 0
CUI: C4085243
Disease: MEND SYNDROME
MEND SYNDROME 		disease Disease or Syndrome 3 4 0.730 None 1.000 8 4 2003 2019
CUI: C1846421
Disease: Lathosterolosis
Lathosterolosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 3 3 0.010 None 1.000 1 2003 2003
CUI: C0264324
Disease: Calcification of trachea
Calcification of trachea 		disease Nutritional and Metabolic Diseases; Respiratory Tract Diseases Disease or Syndrome 3 0.100 None 0
CUI: C1849993
Disease: Calcific stippling
Calcific stippling 		phenotype Finding 3 0.100 None 0
CUI: C1844831
Disease: Cleft Palate with Ankyloglossia
Cleft Palate with Ankyloglossia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Disease or Syndrome 4 5 0.030 None 1.000 3 2001 2009
CUI: C0265374
Disease: Warfarin syndrome
Warfarin syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 4 0.010 None 1.000 1 2011 2011
CUI: C1291601
Disease: Deficiency of isomerase
Deficiency of isomerase 		disease Disease or Syndrome 4 0.010 None 1.000 1 2003 2003
CUI: C0265267
Disease: Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects
Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome 6 14 0.030 None 0.667 3 1 2000 2019
CUI: C0013911
Disease: Emaciation
Emaciation 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 6 0.010 None 1.000 1 2017 2017
CUI: C3806178
Disease: Spotty hypopigmentation
Spotty hypopigmentation 		phenotype Finding 6 1 0.100 None 0
CUI: C1839816
Disease: Long neck
Long neck 		phenotype Finding 7 3 0.100 None 0
CUI: C1844853
Disease: Brachytelephalangic Chondrodysplasia Punctata
Brachytelephalangic Chondrodysplasia Punctata 		disease Disease or Syndrome 7 11 0.200 None 0
CUI: C0282102
Disease: Chondrodysplasia punctata, X-linked dominant type
Chondrodysplasia punctata, X-linked dominant type 		disease Musculoskeletal Diseases Disease or Syndrome 9 39 1.000 strong 1.000 31 39 1983 2019
CUI: C1844830
Disease: CLEFT PALATE, X-LINKED
CLEFT PALATE, X-LINKED 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Disease or Syndrome 9 4 0.030 None 1.000 3 2002 2009