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: C3809753
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 38
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 38 		disease Disease or Syndrome 2 2 0.700 None 1.000 2 2 2012 2013
CUI: C1856895
Disease: SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 1
SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 1 		phenotype Finding 2 9 0.100 None 0 3
CUI: C0474350
Disease: Color of iris
Color of iris 		phenotype Finding 3 28 0.100 None 1.000 1 15 2008 2008
CUI: C4022387
Disease: Recurrent hand flapping
Recurrent hand flapping 		disease Mental Disorders Mental or Behavioral Dysfunction 4 0.100 None 0
CUI: C0233417
Disease: Poor concentration
Poor concentration 		phenotype Behavior and Behavior Mechanisms Finding 5 0.100 None 0
CUI: C4021567
Disease: Central heterochromia
Central heterochromia 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Skin and Connective Tissue Diseases Sign or Symptom 7 1 0.010 None 1.000 1 1 2016 2016
CUI: C4087141
Disease: Skin squamous cell carcinoma metastatic
Skin squamous cell carcinoma metastatic 		disease Neoplastic Process 8 0.010 None 1.000 1 2018 2018
CUI: C0268495
Disease: Oculocutaneous albinism type 2
Oculocutaneous albinism type 2 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 11 58 0.020 None 1.000 2 2011 2013
CUI: C0265222
Disease: Royer Syndrome
Royer Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 12 0.300 None 0
CUI: C0015396
Disease: Eye Color
Eye Color 		phenotype Organism Attribute 13 31 0.100 None 1.000 8 11 2007 2018
CUI: C1386091
Disease: Acromicria
Acromicria 		disease Congenital Abnormality 13 0.100 None 0
CUI: C1857632
Disease: Narrow palm
Narrow palm 		phenotype Finding 17 0.100 None 0
CUI: C0265287
Disease: Acromicric Dysplasia
Acromicric Dysplasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 21 31 0.100 None 0
CUI: C0311277
Disease: Obesity, Abdominal
Obesity, Abdominal 		phenotype Nutritional and Metabolic Diseases Finding 21 0.100 None 0
CUI: C0556280
Disease: Gross motor impairment
Gross motor impairment 		phenotype Finding 22 2 0.100 None 0
CUI: C1849923
Disease: Generalized hypopigmentation
Generalized hypopigmentation 		phenotype Skin and Connective Tissue Diseases Finding 23 1 0.100 None 0
CUI: C0037290
Disease: Skin Pigmentation
Skin Pigmentation 		phenotype Organ or Tissue Function 24 72 0.100 None 1.000 2 3 2015 2018
CUI: C0578626
Disease: blue iris (physical finding)
blue iris (physical finding) 		phenotype Finding 28 2 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: C1844527
Disease: Clitoral hypoplasia
Clitoral hypoplasia 		phenotype Finding 30 0.100 None 0
CUI: C1849295
Disease: Hypoplastic labia minora
Hypoplastic labia minora 		phenotype Finding 30 1 0.100 None 0
CUI: C0221166
Disease: Paraparesis
Paraparesis 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 31 5 0.100 None 0 1
CUI: C0339682
Disease: Regular astigmatism - corneal
Regular astigmatism - corneal 		disease Eye Diseases Disease or Syndrome 34 28 0.110 None 1.000 1 2 2018 2018
CUI: C0078917
Disease: Albinism, Ocular
Albinism, Ocular 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases Congenital Abnormality 37 10 0.010 None 1.000 1 2011 2011
CUI: C0028949
Disease: Oligomenorrhea
Oligomenorrhea 		phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 37 1 0.100 None 0