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: C1306589
Disease: Congenital dyserythropoietic anemia, type II
Congenital dyserythropoietic anemia, type II 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 21 14 0.800 None 0.960 25 13 1989 2019
CUI: C4225179
Disease: COWDEN SYNDROME 7
COWDEN SYNDROME 7 		disease Disease or Syndrome 1 3 0.700 strong 1.000 7 3 2009 2015
CUI: C0002876
Disease: Congenital dyserythropoietic anemia
Congenital dyserythropoietic anemia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 24 13 0.580 strong 1.000 9 2 1982 2018
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms Neoplastic Process 270 139 0.320 None 1.000 2 2015 2016
CUI: C0271934
Disease: Congenital dyserythropoietic anemia, type III
Congenital dyserythropoietic anemia, type III 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 6 0.300 None 1.000 1 2009 2009
CUI: C0271933
Disease: Congenital dyserythropoietic anemia, type I
Congenital dyserythropoietic anemia, type I 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 8 12 0.300 None 1.000 1 2009 2009
CUI: C3539888
Disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 3
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 3 		disease Disease or Syndrome 2 10 0.100 None 1.000 4 1 2009 2011
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 133 82 0.100 None 1.000 3 1 2009 2014
CUI: C3552574
Disease: HYPOGONADOTROPIC HYPOGONADISM 6 WITH OR WITHOUT ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 6 WITH OR WITHOUT ANOSMIA 		disease Disease or Syndrome 2 10 0.100 None 1.000 1 1 2013 2013
CUI: C1519353
Disease: Skin Papule
Skin Papule 		phenotype Skin and Connective Tissue Diseases Finding 74 0.100 None 0
CUI: C1257915
Disease: Intestinal Polyposis
Intestinal Polyposis 		disease Digestive System Diseases Disease or Syndrome 49 3 0.100 None 0
CUI: C0949059
Disease: Polyp of large intestine
Polyp of large intestine 		disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Neoplasms Neoplastic Process 99 32 0.100 None 0
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6776 2793 0.100 None 0
CUI: C0678199
Disease: Anemia of inadequate production
Anemia of inadequate production 		disease Hemic and Lymphatic Diseases Disease or Syndrome 10 3 0.100 None 0
CUI: C0677607
Disease: Hashimoto Disease
Hashimoto Disease 		disease Endocrine System Diseases Disease or Syndrome 335 131 0.100 None 0
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma 		disease Neoplasms; Endocrine System Diseases Neoplastic Process 1348 204 0.100 None 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease Mental or Behavioral Dysfunction 1825 553 0.100 None 0
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 1597 326 0.100 None 0
CUI: C0349588
Disease: Short stature
Short stature 		phenotype Finding 1127 292 0.100 None 0
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases Congenital Abnormality 497 70 0.100 None 0
CUI: C0334263
Disease: Trichilemmoma
Trichilemmoma 		disease Neoplasms Neoplastic Process 8 4 0.100 None 0
CUI: C0332573
Disease: Macule
Macule 		phenotype Finding 31 2 0.100 None 0
CUI: C0332563
Disease: Papule
Papule 		phenotype Pathological Conditions, Signs and Symptoms Finding 76 131 0.100 None 0
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		disease Mental Disorders Mental or Behavioral Dysfunction 1630 348 0.100 None 0
CUI: C1384666
Disease: hearing impairment
hearing impairment 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 740 337 0.100 None 0