Source: HPO

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 538
Gene Symbol: ATP7A
ATP7A 		ATPase copper transporting alpha 0.494 0.769 1.00
CUI: C0152020
Disease: Gastroparesis
Gastroparesis 		disease 0.100 None 0 0
Entrez Id: 538
Gene Symbol: ATP7A
ATP7A 		ATPase copper transporting alpha 0.494 0.769 1.00
CUI: C0221356
Disease: Brachycephaly
Brachycephaly 		disease 0.100 None 0 0
Entrez Id: 538
Gene Symbol: ATP7A
ATP7A 		ATPase copper transporting alpha 0.494 0.769 1.00
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		disease 0.100 None 0 0
Entrez Id: 538
Gene Symbol: ATP7A
ATP7A 		ATPase copper transporting alpha 0.494 0.769 1.00
CUI: C0262655
Disease: Recurrent urinary tract infection
Recurrent urinary tract infection 		disease 0.100 None 0 0
Entrez Id: 538
Gene Symbol: ATP7A
ATP7A 		ATPase copper transporting alpha 0.494 0.769 1.00
CUI: C4025790
Disease: Specific learning disability
Specific learning disability 		disease 0.100 None 0 0
Entrez Id: 538
Gene Symbol: ATP7A
ATP7A 		ATPase copper transporting alpha 0.494 0.769 1.00
CUI: C0401151
Disease: Chronic diarrhea
Chronic diarrhea 		disease 0.100 None 0 0
Entrez Id: 538
Gene Symbol: ATP7A
ATP7A 		ATPase copper transporting alpha 0.494 0.769 1.00
CUI: C0010495
Disease: Cutis Laxa
Cutis Laxa 		disease 0.400 strong 1.000 0 0 2010 2010
Entrez Id: 538
Gene Symbol: ATP7A
ATP7A 		ATPase copper transporting alpha 0.494 0.769 1.00
CUI: C0576093
Disease: Knee joint valgus deformity
Knee joint valgus deformity 		disease 0.100 None 0 0
Entrez Id: 538
Gene Symbol: ATP7A
ATP7A 		ATPase copper transporting alpha 0.494 0.769 1.00
CUI: C1306503
Disease: Congenital exomphalos
Congenital exomphalos 		disease 0.100 None 0 0
Entrez Id: 538
Gene Symbol: ATP7A
ATP7A 		ATPase copper transporting alpha 0.494 0.769 1.00
CUI: C0017168
Disease: Gastroesophageal reflux disease
Gastroesophageal reflux disease 		disease 0.100 None 0 0
Entrez Id: 538
Gene Symbol: ATP7A
ATP7A 		ATPase copper transporting alpha 0.494 0.769 1.00
CUI: C1697453
Disease: Spontaneous hematomas
Spontaneous hematomas 		disease 0.100 None 0 0
Entrez Id: 538
Gene Symbol: ATP7A
ATP7A 		ATPase copper transporting alpha 0.494 0.769 1.00
CUI: C1836830
Disease: Developmental regression
Developmental regression 		disease 0.100 None 0 0
Entrez Id: 538
Gene Symbol: ATP7A
ATP7A 		ATPase copper transporting alpha 0.494 0.769 1.00
CUI: C0023234
Disease: Legg-Calve-Perthes Disease
Legg-Calve-Perthes Disease 		disease 0.100 None 0 0
Entrez Id: 538
Gene Symbol: ATP7A
ATP7A 		ATPase copper transporting alpha 0.494 0.769 1.00
CUI: C0035579
Disease: Rickets
Rickets 		disease 0.100 None 0 0
Entrez Id: 538
Gene Symbol: ATP7A
ATP7A 		ATPase copper transporting alpha 0.494 0.769 1.00
CUI: C0039273
Disease: Talipes cavus
Talipes cavus 		disease 0.100 None 0 0
Entrez Id: 538
Gene Symbol: ATP7A
ATP7A 		ATPase copper transporting alpha 0.494 0.769 1.00
CUI: C0156273
Disease: Bladder Diverticulum
Bladder Diverticulum 		disease 0.110 None 1.000 0 0 2020 2020
Entrez Id: 538
Gene Symbol: ATP7A
ATP7A 		ATPase copper transporting alpha 0.494 0.769 1.00
CUI: C0221357
Disease: Brachydactyly
Brachydactyly 		disease 0.100 None 0 0
Entrez Id: 538
Gene Symbol: ATP7A
ATP7A 		ATPase copper transporting alpha 0.494 0.769 1.00
CUI: C4021815
Disease: Abnormal palate morphology
Abnormal palate morphology 		disease 0.100 None 0 0
Entrez Id: 538
Gene Symbol: ATP7A
ATP7A 		ATPase copper transporting alpha 0.494 0.769 1.00
CUI: C0265654
Disease: Tarsal Coalition
Tarsal Coalition 		disease 0.100 None 0 0
Entrez Id: 538
Gene Symbol: ATP7A
ATP7A 		ATPase copper transporting alpha 0.494 0.769 1.00
CUI: C4025211
Disease: Abnormal carotid artery morphology
Abnormal carotid artery morphology 		disease 0.100 None 0 0
Entrez Id: 538
Gene Symbol: ATP7A
ATP7A 		ATPase copper transporting alpha 0.494 0.769 1.00
CUI: C0332790
Disease: Osseous ankylosis
Osseous ankylosis 		disease 0.100 None 0 0
Entrez Id: 538
Gene Symbol: ATP7A
ATP7A 		ATPase copper transporting alpha 0.494 0.769 1.00
CUI: C4025814
Disease: Abnormality of the metaphysis
Abnormality of the metaphysis 		disease 0.100 None 0 0
Entrez Id: 538
Gene Symbol: ATP7A
ATP7A 		ATPase copper transporting alpha 0.494 0.769 1.00
CUI: C0426799
Disease: Congenital hypoplasia of clavicle
Congenital hypoplasia of clavicle 		disease 0.100 None 0 0
Entrez Id: 538
Gene Symbol: ATP7A
ATP7A 		ATPase copper transporting alpha 0.494 0.769 1.00
CUI: C1328407
Disease: Hip Dysplasia
Hip Dysplasia 		disease 0.100 None 0 0
Entrez Id: 538
Gene Symbol: ATP7A
ATP7A 		ATPase copper transporting alpha 0.494 0.769 1.00
CUI: C0020295
Disease: Hydronephrosis
Hydronephrosis 		disease 0.100 None 0 0