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: C0557874
Disease: Global developmental delay
Global developmental delay
disease Mental or Behavioral Dysfunction 1825 553 0.300 strong 1.000 1 2019 2019
CUI: C2677504
Disease: AUTISM, SUSCEPTIBILITY TO, 15
AUTISM, SUSCEPTIBILITY TO, 15
disease Finding 9 3 0.300 moderate 1.000 1 2019 2019
CUI: C4316870
Disease: Abnormality of the eye
Abnormality of the eye
phenotype Anatomical Abnormality 56 29 0.300 strong 1.000 1 2019 2019
CUI: C3550704
Disease: Abnormality of digit
Abnormality of digit
phenotype Anatomical Abnormality 9 9 0.300 strong 1.000 1 2019 2019
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 0.300 strong 1.000 1 2019 2019
CUI: C4021812
Disease: Abnormality of the head
Abnormality of the head
disease Anatomical Abnormality 9 0.300 strong 1.000 1 2019 2019
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma
disease Neoplasms Neoplastic Process 2283 178 0.100 None 1.000 68 1988 2020
CUI: C0585442
Disease: Osteosarcoma of bone
Osteosarcoma of bone
disease Neoplasms Neoplastic Process 2247 151 0.100 None 1.000 65 1988 2020
CUI: C1332986
Disease: Childhood Osteosarcoma
Childhood Osteosarcoma
disease Neoplasms Neoplastic Process 2208 151 0.100 None 1.000 65 1988 2020
CUI: C0489786
Disease: Height
Height
phenotype Organism Attribute 249 517 0.100 None 1.000 1 1 2013 2013
CUI: C0005890
Disease: Body Height
Body Height
phenotype Organism Attribute 1903 3972 0.100 None 1.000 1 1 2019 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms
group Neoplasms Neoplastic Process 10161 1644 0.080 None 1.000 8 2003 2018
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
phenotype Neoplastic Process 6626 169 0.070 None 1.000 7 1999 2019
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
group Neoplasms Neoplastic Process 8621 1641 0.050 None 1.000 5 1998 2019
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
group Neoplasms Neoplastic Process 8221 1374 0.050 None 1.000 5 1998 2019
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma
disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 3926 712 0.030 None 1.000 3 2017 2018
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 5725 942 0.020 None 1.000 2 2013 2013
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma
disease Neoplasms Neoplastic Process 2509 386 0.020 None 1.000 2 2013 2015
CUI: C4086165
Disease: Childhood Neuroblastoma
Childhood Neuroblastoma
disease Neoplasms Neoplastic Process 2420 231 0.020 None 1.000 2 2013 2015
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma
disease Neoplasms; Nervous System Diseases Neoplastic Process 2419 231 0.020 None 1.000 2 2013 2015
CUI: C0677932
Disease: Progressive Neoplastic Disease
Progressive Neoplastic Disease
phenotype Neoplastic Process 384 40 0.010 None 1.000 1 2016 2016
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 2104 309 0.010 None 1.000 1 1994 1994
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma
disease Neoplasms; Male Urogenital Diseases Neoplastic Process 4388 1168 0.010 None 1.000 1 2011 2011
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 6243 355 0.010 None 1.000 1 2018 2018
CUI: C1266184
Disease: Atypical Teratoid Rhabdoid Tumor
Atypical Teratoid Rhabdoid Tumor
disease Neoplasms Neoplastic Process 84 1 0.010 None 1.000 1 2013 2013