PYCR1, pyrroline-5-carboxylate reductase 1, 5831

N. diseases: 126; N. variants: 12
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: C3280799
Disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIB
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIB 		disease Disease or Syndrome 1 5 0.700 None 1.000 4 5 2009 2017
CUI: C4755314
Disease: Autosomal recessive cutis laxa type 2B
Autosomal recessive cutis laxa type 2B 		disease Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 1 0.010 None 1.000 1 2013 2013
CUI: C2751987
Disease: Cutis Laxa, Autosomal Recessive, Type IIB
Cutis Laxa, Autosomal Recessive, Type IIB 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 2 6 0.750 None 1.000 10 6 2001 2017
CUI: C0268354
Disease: De Barsy syndrome
De Barsy syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 2 12 0.010 None 1.000 1 2011 2011
CUI: C0432255
Disease: Geroderma osteodysplastica
Geroderma osteodysplastica 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Endocrine System Diseases Disease or Syndrome 5 6 0.320 None 1.000 3 2011 2017
CUI: C1837785
Disease: Prominent superficial veins
Prominent superficial veins 		phenotype Finding 8 3 0.100 None 0
CUI: C1836646
Disease: Dermal translucency
Dermal translucency 		phenotype Finding 10 2 0.100 None 0
CUI: C1837761
Disease: Narrow nasal ridge
Narrow nasal ridge 		phenotype Finding 11 2 0.100 None 0
CUI: C1856599
Disease: Beaking of vertebral bodies
Beaking of vertebral bodies 		phenotype Finding 13 0.100 None 0
CUI: C1856087
Disease: Biconcave vertebral bodies
Biconcave vertebral bodies 		phenotype Finding 16 0.100 None 0
CUI: C3665335
Disease: Cutis laxa, autosomal recessive
Cutis laxa, autosomal recessive 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 17 1 0.050 None 1.000 5 1 2011 2018
CUI: C0431369
Disease: Dysgenesis of corpus callosum
Dysgenesis of corpus callosum 		disease Congenital Abnormality 25 3 0.010 None 1.000 1 2014 2014
CUI: C0262431
Disease: Compression fracture of vertebral column
Compression fracture of vertebral column 		phenotype Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Wounds and Injuries Pathologic Function 25 1 0.100 None 0
CUI: C4024890
Disease: Excessive wrinkled skin
Excessive wrinkled skin 		phenotype Anatomical Abnormality 25 0.100 None 0
CUI: C2981140
Disease: Glaucoma of childhood
Glaucoma of childhood 		disease Eye Diseases Disease or Syndrome 30 15 0.100 None 0
CUI: C3536715
Disease: AA amyloidosis
AA amyloidosis 		disease Nutritional and Metabolic Diseases Disease or Syndrome 38 10 0.010 None 1.000 1 2017 2017
CUI: C1857656
Disease: Prematurely aged appearance
Prematurely aged appearance 		phenotype Finding 40 1 0.100 None 0
CUI: C0221014
Disease: Reactive systemic amyloidosis
Reactive systemic amyloidosis 		disease Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 41 11 0.010 None 1.000 1 2017 2017
CUI: C0038522
Disease: Subacute Sclerosing Panencephalitis
Subacute Sclerosing Panencephalitis 		disease Infections; Nervous System Diseases Disease or Syndrome 47 6 0.010 None 1.000 1 2016 2016
CUI: C0581342
Disease: Redundant skin
Redundant skin 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Pathologic Function 48 2 0.100 None 0
CUI: C0241074
Disease: Hyperextensible skin
Hyperextensible skin 		phenotype Finding 50 11 0.100 None 0
CUI: C0020302
Disease: Hydrophthalmos
Hydrophthalmos 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 60 11 0.100 None 0
CUI: C1855340
Disease: Bowing of the long bones
Bowing of the long bones 		phenotype Congenital Abnormality 63 5 0.100 None 0
CUI: C0423867
Disease: Fine hair
Fine hair 		phenotype Finding 69 1 0.100 None 0
CUI: C0010495
Disease: Cutis Laxa
Cutis Laxa 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 70 21 0.660 limited 1.000 10 5 2009 2019