ADAMTSL2, ADAMTS like 2, 9719

N. diseases: 61; N. variants: 12
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3278147
Disease: GELEOPHYSIC DYSPLASIA 1
GELEOPHYSIC DYSPLASIA 1 		0.600 Biomarker disease GENOMICS_ENGLAND
CUI: C3489726
Disease: Geleophysic dysplasia
Geleophysic dysplasia 		0.500 CausalMutation disease CLINVAR
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly 		0.400 Biomarker phenotype HPO
CUI: C0026857
Disease: Musculoskeletal Diseases
Musculoskeletal Diseases 		0.200 Biomarker group MGD
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.110 Biomarker disease HPO
CUI: C0003507
Disease: Aortic Valve Stenosis
Aortic Valve Stenosis 		0.100 Biomarker disease HPO
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum 		0.100 Biomarker disease HPO
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure 		0.100 Biomarker disease HPO
CUI: C0024433
Disease: Macrostomia
Macrostomia 		0.100 Biomarker disease HPO
CUI: C0026269
Disease: Mitral Valve Stenosis
Mitral Valve Stenosis 		0.100 Biomarker disease HPO
CUI: C0029453
Disease: Osteopenia
Osteopenia 		0.100 Biomarker disease HPO
CUI: C0036572
Disease: Seizures
Seizures 		0.100 Biomarker phenotype HPO
CUI: C0040583
Disease: Tracheal Stenosis
Tracheal Stenosis 		0.100 Biomarker disease HPO
CUI: C0040963
Disease: Tricuspid Valve Stenosis
Tricuspid Valve Stenosis 		0.100 Biomarker disease HPO
CUI: C0158113
Disease: Contracture of joint of hand
Contracture of joint of hand 		0.100 Biomarker disease HPO
CUI: C0162298
Disease: Joint stiffness
Joint stiffness 		0.100 Biomarker phenotype HPO
CUI: C0239137
Disease: Coxa valga
Coxa valga 		0.100 Biomarker phenotype HPO
CUI: C0239479
Disease: Round face
Round face 		0.100 Biomarker phenotype HPO
CUI: C0241165
Disease: Thick skin
Thick skin 		0.100 Biomarker phenotype HPO
CUI: C0241703
Disease: High pitched voice
High pitched voice 		0.100 Biomarker phenotype HPO
CUI: C0263523
Disease: Micronychia (disorder)
Micronychia (disorder) 		0.100 Biomarker phenotype HPO
CUI: C0349588
Disease: Short stature
Short stature 		0.100 Biomarker phenotype HPO
CUI: C0409345
Disease: Flexion contracture - wrist
Flexion contracture - wrist 		0.100 Biomarker disease HPO
CUI: C0409348
Disease: Flexion contracture of proximal interphalangeal joint
Flexion contracture of proximal interphalangeal joint 		0.100 Biomarker phenotype HPO
CUI: C0423109
Disease: Upward slant of palpebral fissure
Upward slant of palpebral fissure 		0.100 Biomarker phenotype HPO