PEX7, peroxisomal biogenesis factor 7, 5191

N. diseases: 100; 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: C1859133
Disease: RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1
RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 4 42 0.980 None 0.964 28 42 1995 2017
CUI: C2749346
Disease: Refsum Disease, Adult, 2
Refsum Disease, Adult, 2 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 1 13 0.700 None 1.000 14 13 1997 2016
CUI: C0034960
Disease: Refsum Disease
Refsum Disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 9 14 0.660 None 1.000 7 2 1997 2012
CUI: C0282529
Disease: Chondrodysplasia Punctata, Rhizomelic
Chondrodysplasia Punctata, Rhizomelic 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 8 1 0.600 None 0.950 20 1997 2017
CUI: C1832200
Disease: Peroxisome biogenesis disorders
Peroxisome biogenesis disorders 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 41 38 0.350 strong 0.800 5 1997 2011
CUI: C1720802
Disease: Refsum Disease, Phytanoyl-CoA Hydroxylase Deficiency
Refsum Disease, Phytanoyl-CoA Hydroxylase Deficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 2 0.300 None 1.000 1 2003 2003
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		group Eye Diseases Disease or Syndrome 400 14 0.300 None 0
CUI: C0598589
Disease: Inherited neuropathies
Inherited neuropathies 		disease Nervous System Diseases Disease or Syndrome 104 4 0.300 None 0
CUI: C0008445
Disease: Chondrodysplasia Punctata
Chondrodysplasia Punctata 		disease Musculoskeletal Diseases Congenital Abnormality 16 1 0.210 None 1.000 3 1997 2010
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 2165 159 0.110 None 1.000 1 2012 2012
CUI: C1866352
Disease: Peroxisome Biogenesis Disorder, Complementation Group R
Peroxisome Biogenesis Disorder, Complementation Group R 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 1 13 0.100 None 1.000 12 13 1997 2015
CUI: C1866351
Disease: Peroxisome Biogenesis Disorder, Complementation Group 11
Peroxisome Biogenesis Disorder, Complementation Group 11 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 1 13 0.100 None 1.000 12 13 1997 2015
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		phenotype Finding 426 39 0.100 None 0
CUI: C1834954
Disease: Coronal cleft vertebrae
Coronal cleft vertebrae 		phenotype Finding 11 0.100 None 0
CUI: C1834405
Disease: Nail dysplasia
Nail dysplasia 		disease Pathological Conditions, Signs and Symptoms Congenital Abnormality 78 2 0.100 None 0
CUI: C1837084
Disease: Short metacarpal
Short metacarpal 		phenotype Finding 66 7 0.100 None 0
CUI: C1839364
Disease: Progressive visual loss
Progressive visual loss 		phenotype Finding 77 11 0.100 None 0
CUI: C1848514
Disease: Short fourth metatarsal
Short fourth metatarsal 		phenotype Finding 8 2 0.100 None 0
CUI: C1836830
Disease: Developmental regression
Developmental regression 		disease Mental Disorders Disease or Syndrome 333 80 0.100 None 0
CUI: C1806780
Disease: Increased CSF protein
Increased CSF protein 		phenotype Finding 26 1 0.100 None 0
CUI: C0541794
Disease: Skeletal muscle atrophy
Skeletal muscle atrophy 		phenotype Pathologic Function 306 12 0.100 None 0
CUI: C0575158
Disease: Kyphoscoliosis deformity of spine
Kyphoscoliosis deformity of spine 		disease Musculoskeletal Diseases Anatomical Abnormality 155 17 0.100 None 0
CUI: C0587246
Disease: Muscle weakness of limb
Muscle weakness of limb 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Finding 42 3 0.100 None 0
CUI: C0600033
Disease: Acquired Kyphoscoliosis
Acquired Kyphoscoliosis 		disease Musculoskeletal Diseases Acquired Abnormality 149 2 0.100 None 0
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		group Cardiovascular Diseases Disease or Syndrome 925 294 0.100 None 0