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: C2931013
Disease: Cystinosis, benign, nonnephropathic
Cystinosis, benign, nonnephropathic 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 1 12 0.700 None 1.000 22 12 1998 2017
CUI: C2749685
Disease: CYSTINOSIS, ATYPICAL NEPHROPATHIC (disorder)
CYSTINOSIS, ATYPICAL NEPHROPATHIC (disorder) 		disease Disease or Syndrome 1 2 0.400 strong 1.000 1 2 1978 1978
CUI: C3537440
Disease: Cystinosis, Infantile Nephropathic
Cystinosis, Infantile Nephropathic 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 1 0.010 None 1.000 1 2019 2019
CUI: C0857576
Disease: Abnormality of thyroid physiology
Abnormality of thyroid physiology 		phenotype Finding 1 0.100 None 0
CUI: C4022035
Disease: Abnormality of vitamin D metabolism
Abnormality of vitamin D metabolism 		phenotype Finding 1 0.100 None 0
CUI: C4025623
Disease: Elevated intracellular cystine
Elevated intracellular cystine 		phenotype Finding 1 0.100 None 0
CUI: C0268626
Disease: Juvenile nephropathic cystinosis (disorder)
Juvenile nephropathic cystinosis (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome; Congenital Abnormality 2 13 0.710 None 1.000 23 13 1998 2017
CUI: C1096610
Disease: Corneal crystalline deposits
Corneal crystalline deposits 		phenotype Pathologic Function 2 0.100 None 0
CUI: C4022592
Disease: Oral motor hypotonia
Oral motor hypotonia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 3 1 0.100 None 0
CUI: C1839606
Disease: Low-molecular-weight proteinuria
Low-molecular-weight proteinuria 		phenotype Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Finding 4 1 0.100 None 0
CUI: C2931187
Disease: Nephropathic cystinosis
Nephropathic cystinosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 5 55 1.000 None 0.980 49 55 1998 2019
CUI: C1859516
Disease: Episodic metabolic acidosis
Episodic metabolic acidosis 		phenotype Nutritional and Metabolic Diseases Finding 5 3 0.100 None 0
CUI: C4551565
Disease: Rachitic rosary
Rachitic rosary 		disease Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 7 0.100 None 0
CUI: C1969073
Disease: Hyperchloremic metabolic acidosis
Hyperchloremic metabolic acidosis 		phenotype Disease or Syndrome 8 0.100 None 0
CUI: C1847868
Disease: Generalized aminoaciduria
Generalized aminoaciduria 		phenotype Finding 11 0.100 None 0
CUI: C1857395
Disease: De Toni-Debre-Fanconi Syndrome
De Toni-Debre-Fanconi Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 14 2 0.010 None 1.000 1 2019 2019
CUI: C0155119
Disease: Recurrent erosion of cornea
Recurrent erosion of cornea 		disease Pathological Conditions, Signs and Symptoms; Eye Diseases Disease or Syndrome 15 0.100 None 0
CUI: C0239937
Disease: Microscopic hematuria
Microscopic hematuria 		phenotype Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Finding 15 4 0.100 None 0
CUI: C1142132
Disease: Carnitine deficiency
Carnitine deficiency 		phenotype Finding 15 1 0.100 None 0
CUI: C1857644
Disease: Retinal pigment epithelial mottling
Retinal pigment epithelial mottling 		phenotype Finding 16 2 0.100 None 0
CUI: C4316995
Disease: Primary Hypothyroidism
Primary Hypothyroidism 		disease Endocrine System Diseases Disease or Syndrome 19 3 0.100 None 0
CUI: C3495426
Disease: Homocysteinemia
Homocysteinemia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 21 6 0.010 None 1.000 1 2004 2004
CUI: C3278401
Disease: Hypopigmentation of hair
Hypopigmentation of hair 		phenotype Finding 23 1 0.100 None 0
CUI: C4025732
Disease: Tubulointerstitial abnormality
Tubulointerstitial abnormality 		disease Anatomical Abnormality 23 0.100 None 0
CUI: C0015624
Disease: Fanconi Syndrome
Fanconi Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 26 4 0.100 None 0.947 19 2 1999 2019