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: C1849011
Disease: SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE
SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Disease or Syndrome 1 5 0.730 strong 1.000 5 4 1993 2018
CUI: C1334439
Disease: adenoid cystic carcinoma of lung
adenoid cystic carcinoma of lung 		disease Neoplasms Neoplastic Process 1 0.010 None < 0.001 1 2015 2015
CUI: C1968577
Disease: Progressive calcification of costochondral cartilage
Progressive calcification of costochondral cartilage 		phenotype Finding 1 0.100 None 0
CUI: C4024176
Disease: Triangular shaped distal phalanges of the hand
Triangular shaped distal phalanges of the hand 		disease Anatomical Abnormality 1 0.100 None 0
CUI: C1968592
Disease: Abnormal calcification of the carpal bones
Abnormal calcification of the carpal bones 		phenotype Finding 2 0.100 None 0
CUI: C4024579
Disease: Osteolysis involving bones of the feet
Osteolysis involving bones of the feet 		disease Musculoskeletal Diseases Disease or Syndrome 2 1 0.100 None 0 1
CUI: C1096285
Disease: Arterial fibrosis
Arterial fibrosis 		disease Disease or Syndrome 3 0.010 None 1.000 1 2019 2019
CUI: C0264324
Disease: Calcification of trachea
Calcification of trachea 		disease Nutritional and Metabolic Diseases; Respiratory Tract Diseases Disease or Syndrome 3 0.100 None 0
CUI: C1848446
Disease: C1-C2 subluxation
C1-C2 subluxation 		phenotype Finding 3 0.100 None 0
CUI: C3149494
Disease: KELOID FORMATION
KELOID FORMATION 		phenotype Finding 3 4 0.100 None 0 2
CUI: C1848109
Disease: Long fibula
Long fibula 		phenotype Finding 4 0.100 None 0
CUI: C1837483
Disease: Posterior rib cupping
Posterior rib cupping 		phenotype Finding 5 0.100 None 0
CUI: C1397139
Disease: Calcification of falx cerebri
Calcification of falx cerebri 		disease Disease or Syndrome 6 0.100 None 0
CUI: C1855185
Disease: Broad phalanx
Broad phalanx 		phenotype Finding 6 0.100 None 0
CUI: C0410653
Disease: Atlantoaxial instability
Atlantoaxial instability 		disease Disease or Syndrome 7 0.100 None 0
CUI: C1846154
Disease: Anterior rib cupping
Anterior rib cupping 		phenotype Finding 10 0.100 None 0
CUI: C1842229
Disease: Broad metacarpals
Broad metacarpals 		phenotype Finding 12 0.100 None 0
CUI: C1865841
Disease: Flared iliac wings
Flared iliac wings 		phenotype Finding 19 0.100 None 0
CUI: C0549393
Disease: Alcohol problem
Alcohol problem 		phenotype Mental or Behavioral Dysfunction 23 5 0.010 None 1.000 1 2009 2009
CUI: C1846439
Disease: Hypoplasia of the odontoid process
Hypoplasia of the odontoid process 		phenotype Musculoskeletal Diseases Finding 23 1 0.100 None 0
CUI: C0266623
Disease: Congenital anomaly of neck
Congenital anomaly of neck 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 26 0.100 None 0
CUI: C1865186
Disease: Bell-shaped thorax
Bell-shaped thorax 		phenotype Finding 26 7 0.100 None 0
CUI: C0346388
Disease: Malignant melanoma of choroid
Malignant melanoma of choroid 		disease Neoplasms; Eye Diseases Neoplastic Process 27 5 0.100 None 1.000 1 1 2020 2020
CUI: C0392476
Disease: Epiphyseal dysplasia
Epiphyseal dysplasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 27 0.010 None 1.000 1 2016 2016
CUI: C1859126
Disease: Stippled epiphyses
Stippled epiphyses 		phenotype Finding 28 0.100 None 0