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: C0234022
Disease: Anorgasmia
Anorgasmia 		disease Mental or Behavioral Dysfunction 1 0.010 None 1.000 1 2018 2018
CUI: C1843983
Disease: Trapezoidal distal femoral condyles
Trapezoidal distal femoral condyles 		phenotype Finding 1 0.100 None 0
CUI: C1843985
Disease: Shortening of the talar neck
Shortening of the talar neck 		phenotype Finding 1 0.100 None 0
CUI: C1843986
Disease: Flattening of the talar dome
Flattening of the talar dome 		phenotype Finding 1 0.100 None 0
CUI: C1845168
Disease: Hypophosphatemic Rickets, X-Linked Recessive
Hypophosphatemic Rickets, X-Linked Recessive 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases Disease or Syndrome 2 1 0.500 None 1.000 15 1988 2018
CUI: C0268709
Disease: Renal tubular defect
Renal tubular defect 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 2 0.010 None 1.000 1 1998 1998
CUI: C3554055
Disease: PEROXISOME BIOGENESIS DISORDER 14B
PEROXISOME BIOGENESIS DISORDER 14B 		disease Disease or Syndrome 2 2 0.010 None 1.000 1 2020 2020
CUI: C4330845
Disease: Nutritional Rickets
Nutritional Rickets 		disease Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 2 0.010 None 1.000 1 2018 2018
CUI: C0518988
Disease: Dental abscess
Dental abscess 		phenotype Pathological Conditions, Signs and Symptoms; Infections; Musculoskeletal Diseases; Stomatognathic Diseases Disease or Syndrome 3 0.100 None 0
CUI: C0241932
Disease: X-linked hypogammaglobulinemia
X-linked hypogammaglobulinemia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 4 0.020 None 1.000 2 2007 2008
CUI: C0002957
Disease: Anger
Anger 		phenotype Behavior and Behavior Mechanisms Mental Process 4 4 0.100 None 1.000 1 1 2014 2014
CUI: C1839612
Disease: MYOPIA 1, X-LINKED
MYOPIA 1, X-LINKED 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 4 0.010 None 1.000 1 2019 2019
CUI: C1859133
Disease: RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1
RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 4 42 0.010 None 1.000 1 2015 2015
CUI: C4727947
Disease: Hypophosphataemic osteomalacia
Hypophosphataemic osteomalacia 		disease Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 4 1 0.010 None 1.000 1 1998 1998
CUI: C1443296
Disease: Axial myopia
Axial myopia 		disease Eye Diseases Disease or Syndrome 5 0.010 None 1.000 1 2019 2019
CUI: C4087411
Disease: Oncogenic hypophosphataemic osteomalacia
Oncogenic hypophosphataemic osteomalacia 		disease Disease or Syndrome 5 0.010 None 1.000 1 2001 2001
CUI: C4687396
Disease: Zellweger Spectrum Disorder
Zellweger Spectrum Disorder 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 6 1 0.050 None 1.000 5 2013 2019
CUI: C2363065
Disease: Vitamin D-resistant rickets
Vitamin D-resistant rickets 		disease Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 6 6 0.010 None 1.000 1 1987 1987
CUI: C3665628
Disease: Hypomineralization of enamel of tooth
Hypomineralization of enamel of tooth 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Disease or Syndrome 7 1 0.100 None 0 1
CUI: C4551565
Disease: Rachitic rosary
Rachitic rosary 		disease Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 7 0.100 None 0
CUI: C0011434
Disease: Dentin, Secondary
Dentin, Secondary 		disease Stomatognathic Diseases Disease or Syndrome 8 0.010 None 1.000 1 1990 1990
CUI: C1845169
Disease: Renal phosphate wasting
Renal phosphate wasting 		phenotype Finding 8 0.100 None 0
CUI: C4087506
Disease: Central neuropathic pain
Central neuropathic pain 		disease Disease or Syndrome 9 0.010 None 1.000 1 2017 2017
CUI: C4023801
Disease: Fibular bowing
Fibular bowing 		disease Musculoskeletal Diseases Anatomical Abnormality 9 2 0.100 None 0
CUI: C0342642
Disease: Autosomal dominant hypophosphatemic rickets
Autosomal dominant hypophosphatemic rickets 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases Disease or Syndrome 11 4 0.020 None 1.000 2 2001 2013