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: C2675730
Disease: Deafness, Congenital, and Onychodystrophy, Autosomal Dominant
Deafness, Congenital, and Onychodystrophy, Autosomal Dominant 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 1 1 0.620 None 1.000 3 1 2014 2019
CUI: C4225321
Disease: ZIMMERMANN-LABAND SYNDROME 2
ZIMMERMANN-LABAND SYNDROME 2 		disease Disease or Syndrome 1 2 0.410 None 1.000 2 2 2015 2019
CUI: C4025216
Disease: Prominent nasal septum
Prominent nasal septum 		phenotype Finding 1 0.100 None 0
CUI: C4020917
Disease: Absent fifth fingernail
Absent fifth fingernail 		phenotype Anatomical Abnormality 2 0.100 None 0
CUI: C4551773
Disease: ZIMMERMANN-LABAND SYNDROME 1
ZIMMERMANN-LABAND SYNDROME 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Disease or Syndrome 2 7 0.100 None 0 1
CUI: C4025825
Disease: Abnormal external genitalia
Abnormal external genitalia 		disease Anatomical Abnormality 3 0.100 None 0
CUI: C1848769
Disease: Overtubulated long bones
Overtubulated long bones 		phenotype Finding 4 0.100 None 0
CUI: C1851883
Disease: Small, conical teeth
Small, conical teeth 		phenotype Finding 4 1 0.100 None 0
CUI: C3277940
Disease: Generalized hypertrichosis
Generalized hypertrichosis 		phenotype Skin and Connective Tissue Diseases Finding 6 4 0.100 None 0
CUI: C4024168
Disease: Thickened ears
Thickened ears 		disease Anatomical Abnormality 7 1 0.100 None 0
CUI: C0796013
Disease: Zimmerman Laband syndrome
Zimmerman Laband syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Disease or Syndrome 8 0.610 None 1.000 1 2015 2015
CUI: C0162361
Disease: Hidrotic Ectodermal Dysplasia
Hidrotic Ectodermal Dysplasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 8 7 0.100 None 0
CUI: C1851400
Disease: Facial Hypertrichosis
Facial Hypertrichosis 		phenotype Skin and Connective Tissue Diseases Finding 8 2 0.100 None 0
CUI: C0426428
Disease: Bifid nasal tip
Bifid nasal tip 		phenotype Finding 10 0.100 None 0
CUI: C1844555
Disease: Absent toenail
Absent toenail 		phenotype Pathological Conditions, Signs and Symptoms Congenital Abnormality 11 0.100 None 0
CUI: C0266060
Disease: Anterior open bite
Anterior open bite 		disease Stomatognathic Diseases Anatomical Abnormality 13 0.100 None 0
CUI: C3808403
Disease: Large fleshy ears
Large fleshy ears 		phenotype Finding 13 3 0.100 None 0
CUI: C0079758
Disease: Lymphoma, Mixed-Cell, Follicular
Lymphoma, Mixed-Cell, Follicular 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 15 0.300 None 1.000 1 2016 2016
CUI: C1956132
Disease: Lymphoma, Follicular, Grade 2
Lymphoma, Follicular, Grade 2 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 15 0.300 None 1.000 1 2016 2016
CUI: C2698399
Disease: Myeloperoxidase Measurement
Myeloperoxidase Measurement 		phenotype Laboratory Procedure 15 16 0.100 None 1.000 1 1 2013 2013
CUI: C4022849
Disease: Absent thumbnail
Absent thumbnail 		phenotype Finding 15 0.100 None 0
CUI: C1956131
Disease: Lymphoma, Follicular, Grade 3
Lymphoma, Follicular, Grade 3 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 16 0.300 None 1.000 1 2016 2016
CUI: C1844554
Disease: Absent fingernail
Absent fingernail 		phenotype Pathological Conditions, Signs and Symptoms Congenital Abnormality 19 0.100 None 0
CUI: C1857953
Disease: Deep plantar creases
Deep plantar creases 		phenotype Finding 19 6 0.100 None 0
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