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: C0020681
Disease: Sleep-related respiratory failure
Sleep-related respiratory failure 		disease Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Mental Disorders Disease or Syndrome 3 0.010 None 1.000 1 2003 2003
CUI: C2987128
Disease: Digestive System Neuroendocrine Carcinoma
Digestive System Neuroendocrine Carcinoma 		disease Neoplasms Neoplastic Process 3 0.010 None 1.000 1 2005 2005
CUI: C1857624
Disease: COLLAGENOSIS, FAMILIAL REACTIVE PERFORATING
COLLAGENOSIS, FAMILIAL REACTIVE PERFORATING 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 7 0.010 None 1.000 1 2019 2019
CUI: C1859049
Disease: CCHS WITH HIRSCHSPRUNG DISEASE
CCHS WITH HIRSCHSPRUNG DISEASE 		disease Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases Disease or Syndrome; Congenital Abnormality 7 1 0.500 None 0
CUI: C2931206
Disease: Usher syndrome, type 1B
Usher syndrome, type 1B 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 8 1 0.010 None 1.000 1 1999 1999
CUI: C0596298
Disease: Cerebrovascular Occlusion
Cerebrovascular Occlusion 		disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 9 0.010 None 1.000 1 2011 2011
CUI: C0020440
Disease: Hypercapnia
Hypercapnia 		phenotype Pathological Conditions, Signs and Symptoms Finding 11 0.100 None 0
CUI: C0014122
Disease: Subacute Bacterial Endocarditis
Subacute Bacterial Endocarditis 		disease Infections; Cardiovascular Diseases Disease or Syndrome 12 1 0.010 None 1.000 1 2008 2008
CUI: C3808046
Disease: Breathing dysregulation
Breathing dysregulation 		phenotype Finding 12 8 0.100 None 0
CUI: C0346300
Disease: Pituitary carcinoma
Pituitary carcinoma 		disease Neoplasms; Nervous System Diseases; Endocrine System Diseases Neoplastic Process 13 1 0.010 None 1.000 1 2006 2006
CUI: C3805839
Disease: Central hypoventilation
Central hypoventilation 		phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Finding 16 1 0.100 None 0
CUI: C1832160
Disease: Abnormality of temperature regulation
Abnormality of temperature regulation 		phenotype Finding 19 3 0.100 None 0
CUI: C1511934
Disease: Differentiating Neuroblastoma
Differentiating Neuroblastoma 		disease Neoplasms Neoplastic Process 20 0.020 None 1.000 2 1999 2000
CUI: C0936282
Disease: Blastoma
Blastoma 		disease Neoplasms Neoplastic Process 20 0.010 None 1.000 1 2004 2004
CUI: C1336538
Disease: Supratentorial Embryonal Tumor, Not Otherwise Specified
Supratentorial Embryonal Tumor, Not Otherwise Specified 		disease Neoplasms; Nervous System Diseases Neoplastic Process 22 4 0.010 None 1.000 1 1997 1997
CUI: C1858723
Disease: Poikiloderma with Neutropenia
Poikiloderma with Neutropenia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 25 24 0.010 None 1.000 1 2019 2019
CUI: C0026633
Disease: Mouth Abnormalities
Mouth Abnormalities 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality 26 0.100 None 0
CUI: C3203358
Disease: Hypoventilation
Hypoventilation 		phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Pathologic Function 28 2 0.100 None 0
CUI: C1275808
Disease: Congenital central hypoventilation
Congenital central hypoventilation 		disease Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases Disease or Syndrome 29 15 0.610 limited 1.000 1 1 2003 2003
CUI: C0235272
Disease: Retinal damage
Retinal damage 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases; Wounds and Injuries Disease or Syndrome 32 1 0.010 None 1.000 1 2017 2017
CUI: C0206717
Disease: Olfactory Neuroblastoma
Olfactory Neuroblastoma 		disease Neoplasms; Nervous System Diseases Neoplastic Process 38 0.020 None 1.000 2 1995 2004
CUI: C0008060
Disease: child abuse behavior
child abuse behavior 		phenotype Mental or Behavioral Dysfunction 40 11 0.010 None 1.000 1 2018 2018
CUI: C2930967
Disease: Gastro-enteropancreatic neuroendocrine tumor
Gastro-enteropancreatic neuroendocrine tumor 		disease Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process 41 4 0.020 None 1.000 2 2008 2013
CUI: C0007867
Disease: Cervix Diseases
Cervix Diseases 		group Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 43 3 0.010 None 1.000 1 2018 2018
CUI: C1855496
Disease: Contiguous gene syndrome
Contiguous gene syndrome 		disease Disease or Syndrome 52 0.010 None 1.000 1 2001 2001