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.
Chondrodysplasia punctata, X-linked dominant type
disease Musculoskeletal Diseases Disease or Syndrome 9 39 1.000 strong 1.000 31 39 1983 2019
CUI: C4085243
Disease: MEND SYNDROME
MEND SYNDROME
disease Disease or Syndrome 3 4 0.730 None 1.000 8 4 2003 2019
CUI: C0008445
Disease: Chondrodysplasia Punctata
Chondrodysplasia Punctata
disease Musculoskeletal Diseases Congenital Abnormality 16 1 0.600 None 1.000 11 1990 2017
CUI: C0152427
Disease: Polydactyly
Polydactyly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 188 43 0.400 strong 1.000 1 2003 2003
2-succinyl-5-enolpyruvyl-6-hydroxy-3-cyclohexene-1-carboxylic-acid synthase activity
phenotype Molecular Function 1 0.300 strong 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
Brachytelephalangic Chondrodysplasia Punctata
disease Disease or Syndrome 7 11 0.200 None 0
CUI: C0086543
Disease: Cataract
Cataract
disease Eye Diseases Acquired Abnormality 878 124 0.120 None 1.000 2 2015 2015
CUI: C0010964
Disease: Dandy-Walker Syndrome
Dandy-Walker Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 137 9 0.110 None 1.000 1 2010 2010
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 725 80 0.110 None 1.000 1 2010 2010
CUI: C0002170
Disease: Alopecia
Alopecia
disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 491 375 0.110 None 1.000 1 2007 2007
CUI: C0003507
Disease: Aortic Valve Stenosis
Aortic Valve Stenosis
disease Cardiovascular Diseases Disease or Syndrome 234 19 0.110 None 1.000 1 2017 2017
CUI: C0020757
Disease: Ichthyoses
Ichthyoses
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 194 18 0.110 None 1.000 1 2015 2015
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease Mental or Behavioral Dysfunction 1825 553 0.110 None 1.000 1 2014 2014
Ichthyosiform Erythroderma, Congenital
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 31 11 0.110 None 1.000 1 2015 2015
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
disease Neoplasms Neoplastic Process 3111 6892 0.100 None 0.970 33 1997 2020
CUI: C0027651
Disease: Neoplasms
Neoplasms
group Neoplasms Neoplastic Process 10161 1644 0.100 None 0.941 17 1996 2017
CUI: C1854113
Disease: Prominent nasal bridge
Prominent nasal bridge
phenotype Finding 180 8 0.100 None 0
CUI: C0158733
Disease: Hand polydactyly
Hand polydactyly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 75 1 0.100 None 0
CUI: C0158734
Disease: Polydactyly of toes
Polydactyly of toes
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 61 2 0.100 None 0
CUI: C1853242
Disease: Midface retrusion
Midface retrusion
phenotype Finding 228 0.100 None 0
CUI: C1853241
Disease: Flat face
Flat face
phenotype Finding 83 7 0.100 None 0
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger
disease Congenital Abnormality 284 39 0.100 None 0
CUI: C1849993
Disease: Calcific stippling
Calcific stippling
phenotype Finding 3 0.100 None 0
CUI: C0221354
Disease: Frontal bossing
Frontal bossing
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 321 22 0.100 None 0