WASHC5, WASH complex subunit 5, 9897

N. diseases: 129; N. variants: 15
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Spastic paraplegia 8, autosomal dominant
0.740 Biomarker disease CTD_human
Spastic paraplegia 8, autosomal dominant
0.740 Biomarker disease GENOMICS_ENGLAND
CUI: C0796137
Disease: 3C syndrome
3C syndrome
0.610 Biomarker disease CTD_human
CUI: C4551776
Disease: RITSCHER-SCHINZEL SYNDROME 1
RITSCHER-SCHINZEL SYNDROME 1
0.400 CausalMutation disease CLINVAR
CUI: C0003466
Disease: Anus, Imperforate
Anus, Imperforate
0.100 Biomarker disease HPO
CUI: C0003507
Disease: Aortic Valve Stenosis
Aortic Valve Stenosis
0.100 Biomarker disease HPO
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease
0.100 Biomarker disease HPO
CUI: C0008925
Disease: Cleft Palate
Cleft Palate
0.100 Biomarker disease HPO
CUI: C0009024
Disease: Clonus
Clonus
0.100 Biomarker phenotype HPO
Congenital ocular coloboma (disorder)
0.100 Biomarker disease HPO
CUI: C0010964
Disease: Dandy-Walker Syndrome
Dandy-Walker Syndrome
0.100 Biomarker disease HPO
CUI: C0013069
Disease: Double Outlet Right Ventricle
Double Outlet Right Ventricle
0.100 Biomarker disease HPO
CUI: C0013336
Disease: Dwarfism
Dwarfism
0.100 Biomarker disease HPO
CUI: C0015934
Disease: Fetal Growth Retardation
Fetal Growth Retardation
0.100 Biomarker phenotype HPO
CUI: C0017168
Disease: Gastroesophageal reflux disease
Gastroesophageal reflux disease
0.100 Biomarker disease HPO
CUI: C0017601
Disease: Glaucoma
Glaucoma
0.100 Biomarker disease HPO
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects
0.100 Biomarker group HPO
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects
0.100 Biomarker group HPO
CUI: C0019294
Disease: Hernia, Inguinal
Hernia, Inguinal
0.100 Biomarker phenotype HPO
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus
0.100 Biomarker disease HPO
CUI: C0020295
Disease: Hydronephrosis
Hydronephrosis
0.100 Biomarker disease HPO
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive
0.100 Biomarker phenotype HPO
CUI: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine
0.100 Biomarker phenotype HPO
CUI: C0025990
Disease: Micrognathism
Micrognathism
0.100 Biomarker disease HPO
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
0.100 Biomarker phenotype HPO