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: C4551477
Disease: SOTOS SYNDROME 1
SOTOS SYNDROME 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 1 201 0.610 None 1.000 16 201 2002 2019
CUI: C0751679
Disease: Ganglioglioma, Intracranial
Ganglioglioma, Intracranial 		disease Neoplasms Neoplastic Process 1 0.010 None 1.000 1 2004 2004
CUI: C4304526
Disease: 5q35 microduplication syndrome
5q35 microduplication syndrome 		disease Disease or Syndrome 1 0.300 None 1.000 1 2014 2014
CUI: C1866246
Disease: Sparse anterior scalp hair
Sparse anterior scalp hair 		phenotype Finding 1 1 0.100 None 0 1
CUI: C0332887
Disease: Congenital hypertrophy
Congenital hypertrophy 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 2 0.010 None 1.000 1 2005 2005
CUI: C2931574
Disease: Chromosome 5, monosomy 5q35
Chromosome 5, monosomy 5q35 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Cell or Molecular Dysfunction 2 0.300 None 1.000 1 2007 2007
CUI: C4014545
Disease: Tatton Brown Rahman syndrome
Tatton Brown Rahman syndrome 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 2 28 0.010 None 1.000 1 2019 2019
CUI: C0152236
Disease: Talipes valgus
Talipes valgus 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 2 2 0.100 None 0 1
CUI: C2936777
Disease: Nevo syndrome (disorder)
Nevo syndrome (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 3 0.010 None 1.000 1 2006 2006
CUI: C0398370
Disease: Lipedema
Lipedema 		disease Skin and Connective Tissue Diseases Disease or Syndrome 4 0.010 None 1.000 1 2009 2009
CUI: C3277753
Disease: Deep-set nails
Deep-set nails 		phenotype Finding 5 0.100 None 0
CUI: C1863924
Disease: Megalanecephaly Polymicrogyria-Polydactyly Hydrocephalus Syndrome
Megalanecephaly Polymicrogyria-Polydactyly Hydrocephalus Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 6 0.010 None 1.000 1 2010 2010
CUI: C0559459
Disease: Sacrococcygeal teratoma
Sacrococcygeal teratoma 		disease Neoplasms; Musculoskeletal Diseases; Nervous System Diseases Neoplastic Process 7 0.100 None 0
CUI: C0265210
Disease: Weaver syndrome
Weaver syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Disease or Syndrome 8 13 0.650 strong 1.000 6 2003 2015
CUI: C0423823
Disease: Thin nails
Thin nails 		phenotype Pathological Conditions, Signs and Symptoms Finding 10 1 0.100 None 0
CUI: C1865304
Disease: Overfolding of the superior helices
Overfolding of the superior helices 		phenotype Finding 10 7 0.100 None 0 1
CUI: C1846058
Disease: Lubs X-linked mental retardation syndrome
Lubs X-linked mental retardation syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Mental or Behavioral Dysfunction 11 8 0.010 None 1.000 1 2015 2015
CUI: C0266054
Disease: Premature tooth eruption
Premature tooth eruption 		phenotype Finding 12 0.100 None 0
CUI: C3808403
Disease: Large fleshy ears
Large fleshy ears 		phenotype Finding 13 3 0.100 None 0 1
CUI: C4023915
Disease: Abnormally low-pitched voice
Abnormally low-pitched voice 		disease Anatomical Abnormality 14 0.100 None 0
CUI: C1840380
Disease: Persistent cavum septum pellucidum
Persistent cavum septum pellucidum 		phenotype Finding 17 2 0.100 None 0
CUI: C1853377
Disease: Enlarged cisterna magna
Enlarged cisterna magna 		phenotype Finding 18 4 0.100 None 0
CUI: C0576225
Disease: Long foot
Long foot 		phenotype Musculoskeletal Diseases Finding 19 3 0.100 None 0 1
CUI: C0266298
Disease: Accessory kidney
Accessory kidney 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 20 1 0.100 None 0
CUI: C2825139
Disease: Acute Myeloid Leukemia with Myelodysplasia-Related Changes
Acute Myeloid Leukemia with Myelodysplasia-Related Changes 		disease Neoplasms Neoplastic Process 23 0.010 None 1.000 1 2015 2015