GGCX, gamma-glutamyl carboxylase, 2677

N. diseases: 56; N. variants: 16
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: C0002982
Disease: Angioid Streaks
Angioid Streaks 		disease Eye Diseases Disease or Syndrome 13 90 0.100 None 0
CUI: C4023159
Disease: Reduced factor IX activity
Reduced factor IX activity 		phenotype Finding 5 0.100 None 0
CUI: C3278975
Disease: Attenuation of retinal blood vessels
Attenuation of retinal blood vessels 		phenotype Finding 41 2 0.100 None 0
CUI: C1839829
Disease: Short distal phalanx of finger
Short distal phalanx of finger 		phenotype Finding 85 3 0.100 None 0
CUI: C0151872
Disease: Prothrombin time increased
Prothrombin time increased 		phenotype Hemic and Lymphatic Diseases Finding 30 0.100 None 0
CUI: C0240671
Disease: Partial thromboplastin time increased (finding)
Partial thromboplastin time increased (finding) 		phenotype Finding 18 1 0.100 None 0
CUI: C0332563
Disease: Papule
Papule 		phenotype Pathological Conditions, Signs and Symptoms Finding 76 131 0.100 None 0
CUI: C1859126
Disease: Stippled epiphyses
Stippled epiphyses 		phenotype Finding 28 0.100 None 0
CUI: C0423798
Disease: Increased tendency to bruise
Increased tendency to bruise 		phenotype Wounds and Injuries Finding 133 14 0.100 None 0
CUI: C1854114
Disease: Short nose
Short nose 		phenotype Finding 265 23 0.100 None 0
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: C1852548
Disease: Absent retinal pigment epithelium
Absent retinal pigment epithelium 		phenotype Finding 4 0.100 None 0
CUI: C1458140
Disease: Bleeding tendency
Bleeding tendency 		phenotype Hemic and Lymphatic Diseases Pathologic Function 71 14 0.100 None 0
CUI: C1519353
Disease: Skin Papule
Skin Papule 		phenotype Skin and Connective Tissue Diseases Finding 74 0.100 None 0
CUI: C1846821
Disease: Abnormality of coagulation
Abnormality of coagulation 		phenotype Finding 59 15 0.100 None 0
CUI: C0038379
Disease: Strabismus
Strabismus 		disease Eye Diseases; Nervous System Diseases Disease or Syndrome 716 89 0.100 None 0
CUI: C4024702
Disease: Reduced factor X activity
Reduced factor X activity 		phenotype Finding 3 0.100 None 0
CUI: C0018924
Disease: Hemarthrosis
Hemarthrosis 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Pathologic Function 13 0.100 None 0
CUI: C0013491
Disease: Ecchymosis
Ecchymosis 		phenotype Pathological Conditions, Signs and Symptoms; Hemic and Lymphatic Diseases Pathologic Function 41 2 0.100 None 0
CUI: C0028077
Disease: Nyctalopia
Nyctalopia 		disease Eye Diseases Disease or Syndrome 168 18 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 0.100 None 0
CUI: C0029131
Disease: Abnormality of the optic nerve
Abnormality of the optic nerve 		phenotype Finding 18 11 0.100 None 0
CUI: C4551714
Disease: Rod-Cone Dystrophy
Rod-Cone Dystrophy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 194 33 0.100 None 0
CUI: C4476540
Disease: Dilatation of the cerebral artery
Dilatation of the cerebral artery 		phenotype Nervous System Diseases; Cardiovascular Diseases Anatomical Abnormality 26 1 0.100 None 0
CUI: C4024853
Disease: Increased number of skin folds
Increased number of skin folds 		phenotype Finding 3 0.100 None 0