AMER1, APC membrane recruitment protein 1, 139285

N. diseases: 134; N. variants: 8
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: C0432268
Disease: Osteopathia striata cranial sclerosis
Osteopathia striata cranial sclerosis 		disease Musculoskeletal Diseases Disease or Syndrome 1 8 0.990 strong 1.000 14 8 2009 2019
CUI: C2749161
Disease: Paranasal sinus hypoplasia
Paranasal sinus hypoplasia 		phenotype Finding 1 0.100 None 0
CUI: C0265513
Disease: Osteopathia striata
Osteopathia striata 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 2 1 0.110 None 1.000 1 1 2012 2012
CUI: C4025016
Disease: Straight clavicles
Straight clavicles 		disease Anatomical Abnormality 2 0.100 None 0
CUI: C1969680
Disease: High iliac wings
High iliac wings 		phenotype Finding 3 0.100 None 0
CUI: C4025193
Disease: Craniofacial osteosclerosis
Craniofacial osteosclerosis 		disease Musculoskeletal Diseases Anatomical Abnormality 3 0.100 None 0
CUI: C0281890
Disease: Laryngeal web
Laryngeal web 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 4 2 0.100 None 0
CUI: C1857501
Disease: Facial hyperostosis
Facial hyperostosis 		phenotype Finding 4 0.100 None 0
CUI: C4024618
Disease: Large iliac wings
Large iliac wings 		phenotype Finding 6 0.100 None 0
CUI: C1851714
Disease: Sclerosis of skull base
Sclerosis of skull base 		phenotype Musculoskeletal Diseases Finding 8 0.100 None 0
CUI: C1836186
Disease: Fibular aplasia
Fibular aplasia 		phenotype Finding 9 0.100 None 0
CUI: C1406835
Disease: Flexion contracture of toe
Flexion contracture of toe 		phenotype Finding 10 0.100 None 0
CUI: C1858033
Disease: Asymmetry of the thorax
Asymmetry of the thorax 		phenotype Finding 12 4 0.100 None 0
CUI: C1855418
Disease: Thoracolumbar kyphosis
Thoracolumbar kyphosis 		disease Anatomical Abnormality 13 0.100 None 0
CUI: C1320468
Disease: Nephrogenic rest
Nephrogenic rest 		disease Anatomical Abnormality 15 0.030 None 0.667 3 2010 2019
CUI: C1832119
Disease: Fibular hypoplasia
Fibular hypoplasia 		phenotype Finding 16 0.100 None 0
CUI: C1848654
Disease: Broad ribs
Broad ribs 		phenotype Finding 18 0.100 None 0
CUI: C4020958
Disease: Rough bone trabeculation
Rough bone trabeculation 		disease Anatomical Abnormality 19 0.100 None 0
CUI: C3840083
Disease: Late closure of anterior fontanel
Late closure of anterior fontanel 		phenotype Finding 21 2 0.100 None 0
CUI: C0027443
Disease: Natal Teeth
Natal Teeth 		phenotype Finding 22 2 0.100 None 0
CUI: C1858452
Disease: Thickened calvaria
Thickened calvaria 		phenotype Finding 27 0.100 None 0
CUI: C0948187
Disease: Tracheomalacia
Tracheomalacia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Respiratory Tract Diseases Disease or Syndrome 30 5 0.100 None 0
CUI: C2930471
Disease: Bilateral Wilms Tumor
Bilateral Wilms Tumor 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 31 0.300 None 1.000 1 2017 2017
CUI: C0431368
Disease: Partial agenesis of corpus callosum
Partial agenesis of corpus callosum 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 38 1 0.100 None 0
CUI: C0013528
Disease: Echolalia
Echolalia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction 39 4 0.100 None 0