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: C0265201
Disease: De Sanctis-Cacchione syndrome
De Sanctis-Cacchione syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 1 51 0.600 None 1.000 20 51 1981 2018
CUI: C3551173
Disease: UV-SENSITIVE SYNDROME 1
UV-SENSITIVE SYNDROME 1 		disease Disease or Syndrome 1 5 0.400 None 1.000 2 5 1982 2016
CUI: C4310783
Disease: PREMATURE OVARIAN FAILURE 11
PREMATURE OVARIAN FAILURE 11 		disease Disease or Syndrome 1 6 0.600 None 1.000 1 6 2015 2015
CUI: C1851430
Disease: Subcortical white matter calcifications
Subcortical white matter calcifications 		phenotype Pathological Conditions, Signs and Symptoms Finding 1 0.100 None 0
CUI: C1851431
Disease: Cerebellar calcifications
Cerebellar calcifications 		phenotype Finding 1 0.100 None 0
CUI: C1859224
Disease: Second metatarsal posteriorly placed
Second metatarsal posteriorly placed 		phenotype Finding 1 0.100 None 0
CUI: C3151063
Disease: MACULAR DEGENERATION, AGE-RELATED, 5
MACULAR DEGENERATION, AGE-RELATED, 5 		disease Disease or Syndrome 1 5 0.600 limited 0 5
CUI: C4024826
Disease: Pigmentation anomalies of sun-exposed skin
Pigmentation anomalies of sun-exposed skin 		phenotype Pathologic Function 1 0.100 None 0
CUI: C0751037
Disease: Cockayne Syndrome, Type III
Cockayne Syndrome, Type III 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 2 0.300 None 1.000 7 1998 2016
CUI: C1857638
Disease: Patchy demyelination of subcortical white matter
Patchy demyelination of subcortical white matter 		phenotype Finding 2 0.100 None 0
CUI: C1859223
Disease: Deep longitudinal plantar crease
Deep longitudinal plantar crease 		phenotype Finding 2 0.100 None 0
CUI: C2674950
Disease: LUNG CANCER, SUSCEPTIBILITY TO
LUNG CANCER, SUSCEPTIBILITY TO 		phenotype Finding 2 3 0.100 None 0 1
CUI: C4025648
Disease: Abnormal peripheral myelination
Abnormal peripheral myelination 		disease Anatomical Abnormality 2 0.100 None 0
CUI: C2242574
Disease: Compulsive sexual behaviour
Compulsive sexual behaviour 		disease Mental or Behavioral Dysfunction 3 0.010 None 1.000 1 2018 2018
CUI: C0239761
Disease: Gonadal hypoplasia
Gonadal hypoplasia 		disease Congenital Abnormality 3 0.100 None 0
CUI: C1857651
Disease: Ivory epiphyses of the phalanges of the hand
Ivory epiphyses of the phalanges of the hand 		phenotype Finding 3 0.100 None 0
CUI: C1849953
Disease: Square pelvis bone
Square pelvis bone 		disease Anatomical Abnormality 4 0.100 None 0
CUI: C1857645
Disease: Slender nose
Slender nose 		phenotype Finding 4 0.100 None 0
CUI: C1857707
Disease: Increased cellular sensitivity to UV light
Increased cellular sensitivity to UV light 		phenotype Finding 4 0.100 None 0
CUI: C4025610
Disease: Peripheral dysmyelination
Peripheral dysmyelination 		phenotype Finding 4 0.100 None 0
CUI: C0235857
Disease: Decreased lacrimation
Decreased lacrimation 		phenotype Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Eye Diseases; Nervous System Diseases Finding 6 1 0.100 None 0
CUI: C1837767
Disease: Loss of facial adipose tissue
Loss of facial adipose tissue 		phenotype Finding 6 0.100 None 0
CUI: C0220722
Disease: Cerebrooculofacioskeletal Syndrome 1
Cerebrooculofacioskeletal Syndrome 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 7 58 0.740 None 1.000 15 51 1981 2017
CUI: C0033922
Disease: Psychomotor Disorders
Psychomotor Disorders 		group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 7 0.300 None 1.000 1 2008 2008
CUI: C0751456
Disease: Developmental Psychomotor Disorders
Developmental Psychomotor Disorders 		group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 7 0.300 None 1.000 1 2008 2008