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: C0340756
Disease: Stenosis, Pulmonary Vein
Stenosis, Pulmonary Vein 		disease Cardiovascular Diseases Disease or Syndrome 2 0.010 None 1.000 1 2018 2018
CUI: C4024916
Disease: Decreased number of small peripheral myelinated nerve fibers
Decreased number of small peripheral myelinated nerve fibers 		phenotype Finding 2 0.100 None 0
CUI: C0265979
Disease: Fibrous Hamartoma of Infancy
Fibrous Hamartoma of Infancy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 3 0.010 None 1.000 1 2018 2018
CUI: C0266913
Disease: Hyperplastic gingivitis
Hyperplastic gingivitis 		disease Stomatognathic Diseases Disease or Syndrome 3 0.010 None 1.000 1 2019 2019
CUI: C0878627
Disease: Mucosal neuromas
Mucosal neuromas 		disease Neoplasms Disease or Syndrome 3 0.010 None 1.000 1 2016 2016
CUI: C4525548
Disease: Fish Melanoma
Fish Melanoma 		disease Neoplastic Process 3 0.010 None 1.000 1 1993 1993
CUI: C1850438
Disease: Postural hypotension with compensatory tachycardia
Postural hypotension with compensatory tachycardia 		phenotype Nervous System Diseases; Cardiovascular Diseases Finding 4 2 0.100 None 0
CUI: C0027073
Disease: Myofascial Pain Syndromes
Myofascial Pain Syndromes 		disease Musculoskeletal Diseases Disease or Syndrome 5 0.200 None 1.000 1 2011 2011
CUI: C0235753
Disease: Congenital hemangioma
Congenital hemangioma 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Cardiovascular Diseases Neoplastic Process 5 0.010 None 1.000 1 2008 2008
CUI: C0086405
Disease: Hereditary Sensory Radicular Neuropathy
Hereditary Sensory Radicular Neuropathy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 5 0.300 None 0
CUI: C0748505
Disease: Sarcoma, metastatic
Sarcoma, metastatic 		disease Neoplasms Neoplastic Process 6 0.010 None 1.000 1 2015 2015
CUI: C4023710
Disease: Palmar hyperkeratosis
Palmar hyperkeratosis 		disease Disease or Syndrome 6 0.010 None 1.000 1 2003 2003
CUI: C0020075
Disease: Hereditary Sensory Autonomic Neuropathy, Type 5
Hereditary Sensory Autonomic Neuropathy, Type 5 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 7 5 0.520 None 1.000 2 2 2001 2002
CUI: C0003892
Disease: Neurogenic arthropathy
Neurogenic arthropathy 		disease Musculoskeletal Diseases Disease or Syndrome 7 2 0.110 None 1.000 1 2020 2020
CUI: C0036868
Disease: Sex Chromosome Aberrations
Sex Chromosome Aberrations 		group Pathological Conditions, Signs and Symptoms Disease or Syndrome; Congenital Abnormality 8 0.010 None 1.000 1 2002 2002
CUI: C0020072
Disease: Hereditary Sensory Autonomic Neuropathy, Type 2
Hereditary Sensory Autonomic Neuropathy, Type 2 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 8 9 0.300 None 0
CUI: C1837602
Disease: Painless fractures due to injury
Painless fractures due to injury 		phenotype Finding 8 0.100 None 0
CUI: C1852289
Disease: Autoamputation of digits
Autoamputation of digits 		phenotype Musculoskeletal Diseases Finding 8 0.100 None 0
CUI: C4021222
Disease: Impaired temperature sensation
Impaired temperature sensation 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 8 0.100 None 0
CUI: C4732740
Disease: Acral ulceration
Acral ulceration 		phenotype Finding 8 0.100 None 0
CUI: C0020074
Disease: HSAN Type IV
HSAN Type IV 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 9 32 0.800 None 1.000 58 32 1996 2020
CUI: C0268397
Disease: Amyloidosis, Primary Cutaneous
Amyloidosis, Primary Cutaneous 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 9 10 0.010 None 1.000 1 2016 2016
CUI: C1266134
Disease: Spindle cell rhabdomyosarcoma
Spindle cell rhabdomyosarcoma 		disease Neoplasms; Musculoskeletal Diseases Neoplastic Process 9 0.010 None 1.000 1 2018 2018
CUI: C1336082
Disease: Thymic Squamous Cell Carcinoma
Thymic Squamous Cell Carcinoma 		disease Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process 9 0.010 None 1.000 1 2012 2012
CUI: C0025164
Disease: Megaesophagus
Megaesophagus 		disease Digestive System Diseases Disease or Syndrome 10 0.010 None 1.000 1 2018 2018