ATP7A, ATPase copper transporting alpha, 538

N. diseases: 348; N. variants: 107
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: C0268070
Disease: Hypocupremia
Hypocupremia 		disease Disease or Syndrome 23 2 0.100 None 1.000 18 1999 2019
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		phenotype Neoplastic Process 6626 169 0.020 None 1.000 2 2013 2016
CUI: C4024896
Disease: Motor neuron atrophy
Motor neuron atrophy 		disease Disease or Syndrome 138 21 0.020 None 1.000 2 2012 2018
CUI: C0005890
Disease: Body Height
Body Height 		phenotype Organism Attribute 1903 3972 0.100 None 1.000 1 1 2019 2019
CUI: C0302332
Disease: Poisoning syndrome
Poisoning syndrome 		disease Disease or Syndrome 14 0.010 None 1.000 1 2019 2019
CUI: C0856169
Disease: Endothelial dysfunction
Endothelial dysfunction 		phenotype Disease or Syndrome 716 25 0.010 None 1.000 1 2018 2018
CUI: C1141933
Disease: Multi-organ disorder
Multi-organ disorder 		disease Disease or Syndrome 2 3 0.010 None 1.000 1 2017 2017
CUI: C2062441
Disease: Influenza A
Influenza A 		disease Disease or Syndrome 563 19 0.010 None 1.000 1 2017 2017
CUI: C3149631
Disease: MELORHEOSTOSIS, ISOLATED
MELORHEOSTOSIS, ISOLATED 		disease Disease or Syndrome 35 0.010 None 1.000 1 2017 2017
CUI: C0239676
Disease: High forehead
High forehead 		phenotype Finding 211 17 0.100 None 0
CUI: C0240538
Disease: Convex nasal ridge
Convex nasal ridge 		phenotype Finding 69 8 0.100 None 0
CUI: C0240997
Disease: Decreased serum ceruloplasmin
Decreased serum ceruloplasmin 		phenotype Finding 12 5 0.100 None 0 1
CUI: C0241074
Disease: Hyperextensible skin
Hyperextensible skin 		phenotype Finding 50 11 0.100 None 0
CUI: C0241165
Disease: Thick skin
Thick skin 		phenotype Finding 40 1 0.100 None 0
CUI: C0277828
Disease: Late fontanel closure
Late fontanel closure 		phenotype Finding 41 0.100 None 0
CUI: C0277959
Disease: Coarse hair
Coarse hair 		phenotype Finding 60 4 0.100 None 0
CUI: C0349588
Disease: Short stature
Short stature 		phenotype Finding 1127 292 0.100 None 0
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		phenotype Finding 391 49 0.100 None 0
CUI: C0426790
Disease: Narrow thorax
Narrow thorax 		phenotype Finding 112 18 0.100 None 0
CUI: C0426801
Disease: Broad clavicle
Broad clavicle 		phenotype Finding 9 0.100 None 0
CUI: C0426807
Disease: Short clavicle
Short clavicle 		phenotype Finding 26 0.100 None 0
CUI: C0456132
Disease: Large fontanelle
Large fontanelle 		phenotype Finding 77 3 0.100 None 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease Mental or Behavioral Dysfunction 1825 553 0.100 None 0 1
CUI: C1303076
Disease: Tortuous carotid artery
Tortuous carotid artery 		phenotype Finding 1 0.100 None 0
CUI: C1697453
Disease: Spontaneous hematomas
Spontaneous hematomas 		disease Disease or Syndrome 33 0.100 None 0