ANTXR2, ANTXR cell adhesion molecule 2, 118429

N. diseases: 143; N. variants: 27
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: C0409346
Disease: Contracture of joint of thumb
Contracture of joint of thumb 		disease Musculoskeletal Diseases Acquired Abnormality 2 1 0.100 None 0 1
CUI: C1833326
Disease: Generalized bone demineralization
Generalized bone demineralization 		phenotype Finding 2 1 0.100 None 0 1
CUI: C4538570
Disease: COMPLEMENT HYPERACTIVATION, ANGIOPATHIC THROMBOSIS, AND PROTEIN-LOSING ENTEROPATHY
COMPLEMENT HYPERACTIVATION, ANGIOPATHIC THROMBOSIS, AND PROTEIN-LOSING ENTEROPATHY 		disease Disease or Syndrome 3 6 0.100 None 0 1
CUI: C1859212
Disease: Limited neck range of motion
Limited neck range of motion 		phenotype Finding 5 2 0.100 None 0 1
CUI: C3279322
Disease: Progressive flexion contractures
Progressive flexion contractures 		phenotype Finding 6 0.100 None 0
CUI: C4023796
Disease: Aplasia/Hypoplasia of the thymus
Aplasia/Hypoplasia of the thymus 		disease Anatomical Abnormality 6 0.100 None 0
CUI: C0017567
Disease: Gingival Hypertrophy
Gingival Hypertrophy 		disease Stomatognathic Diseases Disease or Syndrome 7 0.300 None 1.000 2 2003 2003
CUI: C0205766
Disease: Myxofibroma
Myxofibroma 		disease Neoplasms Neoplastic Process 7 0.300 None 1.000 2 2003 2003
CUI: C0278152
Disease: Hemifacial Spasm
Hemifacial Spasm 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Stomatognathic Diseases Disease or Syndrome 8 0.010 None 1.000 1 2019 2019
CUI: C4021794
Disease: Abnormality of the adrenal glands
Abnormality of the adrenal glands 		disease Anatomical Abnormality 10 0.100 None 0
CUI: C4021787
Disease: Abnormal diaphysis morphology
Abnormal diaphysis morphology 		disease Anatomical Abnormality 11 0.100 None 0
CUI: C4023588
Disease: Abnormality of the gastrointestinal tract
Abnormality of the gastrointestinal tract 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Anatomical Abnormality 14 1 0.100 None 0
CUI: C1846423
Disease: Thick upper lip vermilion
Thick upper lip vermilion 		phenotype Finding 16 4 0.100 None 0 1
CUI: C4023528
Disease: Abnormality of skin morphology
Abnormality of skin morphology 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Anatomical Abnormality 16 2 0.100 None 0 1
CUI: C0037293
Disease: Skin tag
Skin tag 		phenotype Pathological Conditions, Signs and Symptoms; Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 17 1 0.100 None 0 1
CUI: C2745948
Disease: Hyalinosis, Systemic
Hyalinosis, Systemic 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 20 30 0.800 None 1.000 22 15 2003 2019
CUI: C0016049
Disease: Fibromatosis, Gingival
Fibromatosis, Gingival 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Anatomical Abnormality 20 1 0.100 None 0 1
CUI: C0016048
Disease: Fibromatosis
Fibromatosis 		disease Neoplasms Neoplastic Process 22 5 0.300 None 1.000 2 2003 2003
CUI: C1844806
Disease: Weight less than 3rd percentile
Weight less than 3rd percentile 		phenotype Finding 22 27 0.100 None 0 1
CUI: C4024737
Disease: Aplasia/Hypoplasia of the skin
Aplasia/Hypoplasia of the skin 		phenotype Finding 29 0.100 None 0
CUI: C0016045
Disease: fibroma
fibroma 		disease Neoplasms Neoplastic Process 30 4 0.300 None 1.000 2 2003 2003
CUI: C0006157
Disease: Breech Presentation
Breech Presentation 		phenotype Female Urogenital Diseases and Pregnancy Complications Pathologic Function 30 11 0.100 None 0 1
CUI: C0009918
Disease: Contracture of joint
Contracture of joint 		disease Musculoskeletal Diseases Anatomical Abnormality 36 0.010 None 1.000 1 2017 2017
CUI: C4728082
Disease: Severe hypoglycaemia
Severe hypoglycaemia 		disease Disease or Syndrome 36 2 0.010 None 1.000 1 2019 2019
CUI: C0038238
Disease: Steatorrhea
Steatorrhea 		phenotype Digestive System Diseases; Nutritional and Metabolic Diseases Finding 37 0.100 None 0