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: C3150970
Disease: NOONAN SYNDROME 7
NOONAN SYNDROME 7 		disease Disease or Syndrome 1 8 0.700 None 1.000 5 8 2006 2017
CUI: C3150971
Disease: LEOPARD SYNDROME 3
LEOPARD SYNDROME 3 		disease Disease or Syndrome 1 5 0.700 None 1.000 4 5 2006 2013
CUI: C0035290
Disease: Reticulohistiocytic granuloma
Reticulohistiocytic granuloma 		disease Hemic and Lymphatic Diseases Neoplastic Process 1 2 0.020 None 1.000 2 2 2019 2019
CUI: C0743086
Disease: Granulomatous dermatitis
Granulomatous dermatitis 		disease Skin and Connective Tissue Diseases Disease or Syndrome 1 0.020 None 1.000 2 2015 2019
CUI: C1857534
Disease: Postnatal onset growth deficiency
Postnatal onset growth deficiency 		phenotype Finding 1 1 0.100 None 1.000 2 1 2006 2006
CUI: C0009761
Disease: Conjunctival Neoplasms
Conjunctival Neoplasms 		group Neoplasms; Eye Diseases Neoplastic Process 1 0.010 None 1.000 1 2004 2004
CUI: C0162504
Disease: Neutrophilic Eccrine Hidradenitis
Neutrophilic Eccrine Hidradenitis 		disease Skin and Connective Tissue Diseases Disease or Syndrome 1 0.010 None 1.000 1 2017 2017
CUI: C0302323
Disease: Reticulohistiocytosis
Reticulohistiocytosis 		disease Neoplastic Process 1 2 0.010 None 1.000 1 2 2019 2019
CUI: C0349533
Disease: Lymphoma of intestine
Lymphoma of intestine 		disease Digestive System Diseases; Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 1 2 0.010 None 1.000 1 2 2019 2019
CUI: C0578682
Disease: Madarosis of eyebrow
Madarosis of eyebrow 		disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 1 1 0.100 None 1.000 1 1 2008 2008
CUI: C0742965
Disease: Eosinophilic cystitis
Eosinophilic cystitis 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 1 0.010 None 1.000 1 2017 2017
CUI: C0848860
Disease: endocrine carcinoma
endocrine carcinoma 		disease Neoplastic Process 1 2 0.010 None 1.000 1 2 2004 2004
CUI: C0854923
Disease: Mucinous endometrial carcinoma
Mucinous endometrial carcinoma 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 1 2 0.010 None 1.000 1 2 2013 2013
CUI: C1263887
Disease: Neoplasm of temporal lobe
Neoplasm of temporal lobe 		disease Neoplasms; Nervous System Diseases Neoplastic Process 1 0.010 None 1.000 1 2013 2013
CUI: C1266111
Disease: Glomus tumor, malignant
Glomus tumor, malignant 		disease Neoplasms Neoplastic Process 1 2 0.010 None 1.000 1 2 2017 2017
CUI: C1266112
Disease: Diffuse melanocytosis
Diffuse melanocytosis 		disease Neoplasms Neoplastic Process 1 2 0.010 None 1.000 1 2 2014 2014
CUI: C1266141
Disease: Nephrogenic adenofibroma
Nephrogenic adenofibroma 		disease Neoplasms Neoplastic Process 1 0.010 None 1.000 1 2017 2017
CUI: C1274943
Disease: Drug-induced panniculitis
Drug-induced panniculitis 		disease Skin and Connective Tissue Diseases Disease or Syndrome 1 0.010 None 1.000 1 2019 2019
CUI: C1275419
Disease: Desmoplastic spindle and epithelioid cell melanocytic nevus of skin
Desmoplastic spindle and epithelioid cell melanocytic nevus of skin 		disease Neoplasms Neoplastic Process 1 0.010 None 1.000 1 2006 2006
CUI: C1304321
Disease: Eruptive melanocytic nevi
Eruptive melanocytic nevi 		disease Neoplastic Process 1 2 0.010 None 1.000 1 2 2010 2010
CUI: C1333826
Disease: Glomus Tumor of Uncertain Malignant Potential
Glomus Tumor of Uncertain Malignant Potential 		disease Neoplasms Neoplastic Process 1 0.010 None 1.000 1 2018 2018
CUI: C1334720
Disease: Metastatic Malignant Peripheral Nerve Sheath Tumor
Metastatic Malignant Peripheral Nerve Sheath Tumor 		disease Neoplasms; Nervous System Diseases Neoplastic Process 1 2 0.010 None 1.000 1 2 2013 2013
CUI: C3897744
Disease: recurrent childhood pleomorphic xanthoastrocytoma
recurrent childhood pleomorphic xanthoastrocytoma 		disease Neoplastic Process 1 0.010 None 1.000 1 2013 2013
CUI: C3897746
Disease: recurrent childhood pilocytic astrocytoma
recurrent childhood pilocytic astrocytoma 		disease Neoplastic Process 1 2 0.010 None 1.000 1 2 2013 2013
CUI: C4049491
Disease: Verrucous keratosis
Verrucous keratosis 		disease Disease or Syndrome 1 0.010 None 1.000 1 2013 2013