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: C0423318
Disease: Heterochromia iridis
Heterochromia iridis 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Skin and Connective Tissue Diseases Finding 17 10 0.100 None 0
CUI: C0017181
Disease: Gastrointestinal Hemorrhage
Gastrointestinal Hemorrhage 		phenotype Pathological Conditions, Signs and Symptoms; Digestive System Diseases Pathologic Function 122 24 0.100 None 0
CUI: C0016689
Disease: Freckles
Freckles 		phenotype Skin and Connective Tissue Diseases Finding 45 10 0.100 None 0 1
CUI: C0345832
Disease: Neoplasm of small intestine
Neoplasm of small intestine 		disease Digestive System Diseases; Neoplasms Neoplastic Process 9 0.100 None 0
CUI: C0344312
Disease: White forelock
White forelock 		phenotype Skin and Connective Tissue Diseases Finding 12 1 0.100 None 0
CUI: C0021843
Disease: Intestinal Obstruction
Intestinal Obstruction 		disease Digestive System Diseases Disease or Syndrome 87 3 0.100 None 0
CUI: C0015230
Disease: Exanthema
Exanthema 		phenotype Skin and Connective Tissue Diseases Sign or Symptom 251 14 0.100 None 0
CUI: C0014859
Disease: Esophageal Neoplasms
Esophageal Neoplasms 		group Digestive System Diseases; Neoplasms Neoplastic Process 1254 270 0.100 None 0
CUI: C0332573
Disease: Macule
Macule 		phenotype Finding 31 2 0.100 None 0
CUI: C1319315
Disease: Adenocarcinoma of large intestine
Adenocarcinoma of large intestine 		disease Digestive System Diseases; Neoplasms Neoplastic Process 543 432 0.300 None 0 2
CUI: C0600228
Disease: Cardiopulmonary Arrest
Cardiopulmonary Arrest 		phenotype Cardiovascular Diseases Pathologic Function 16 0.100 None 0
CUI: C2132198
Disease: Abnormal blistering of the skin
Abnormal blistering of the skin 		phenotype Finding 75 10 0.100 None 0
CUI: C0221263
Disease: Cafe-au-Lait Spots
Cafe-au-Lait Spots 		phenotype Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Finding 74 32 0.100 None 0 1
CUI: C3496549
Disease: Male Germ Cell Tumor
Male Germ Cell Tumor 		disease Neoplasms; Male Urogenital Diseases; Endocrine System Diseases Neoplastic Process 5 0.300 None 0
CUI: C1860236
Disease: Irregular hyperpigmentation
Irregular hyperpigmentation 		phenotype Skin and Connective Tissue Diseases Finding 55 2 0.100 None 0
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 2165 159 0.100 None 0
CUI: C3897042
Disease: Smoldering Systemic Mastocytosis
Smoldering Systemic Mastocytosis 		disease Neoplasms; Immune System Diseases Neoplastic Process 4 0.300 None 0
CUI: C4016294
Disease: PIEBALDISM WITH SENSORINEURAL DEAFNESS
PIEBALDISM WITH SENSORINEURAL DEAFNESS 		disease Finding 1 1 0.100 None 0 1
CUI: C4509020
Disease: Isolated bone marrow mastocytosis
Isolated bone marrow mastocytosis 		disease Disease or Syndrome 1 0.300 None 0
CUI: C4025692
Disease: Abnormality of calvarial morphology
Abnormality of calvarial morphology 		phenotype Anatomical Abnormality 8 1 0.100 None 0
CUI: C0041834
Disease: Erythema
Erythema 		phenotype Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 227 8 0.100 None 0
CUI: C0004134
Disease: Ataxia
Ataxia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 868 68 0.100 None 0
CUI: C4024848
Disease: Absent pigmentation of the ventral chest
Absent pigmentation of the ventral chest 		disease Disease or Syndrome 2 0.100 None 0
CUI: C4016297
Disease: PIEBALDISM, PROGRESSIVE
PIEBALDISM, PROGRESSIVE 		disease Finding 1 1 0.100 None 0 1
CUI: C0027498
Disease: Nausea and vomiting
Nausea and vomiting 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 257 11 0.100 None 0