SLC25A3, solute carrier family 25 member 3, 5250

N. diseases: 112; N. variants: 1
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.
Mitochondrial Phosphate Carrier Deficiency
disease Nutritional and Metabolic Diseases Disease or Syndrome 1 1 0.700 None 1.000 3 1 2007 2016
CUI: C4023050
Disease: Abnormal mitochondrial shape
Abnormal mitochondrial shape
phenotype Finding 1 0.100 None 0
Lower urinary tract infectious disease
group Female Urogenital Diseases and Pregnancy Complications; Infections; Male Urogenital Diseases Disease or Syndrome 2 0.010 None 1.000 1 2019 2019
CUI: C4024201
Disease: Low-output congestive heart failure
Low-output congestive heart failure
disease Cardiovascular Diseases Disease or Syndrome 3 1 0.100 None 0
CUI: C4023042
Disease: Abnormality of the mitochondrion
Abnormality of the mitochondrion
disease Anatomical Abnormality 10 0.100 None 0
CUI: C0021832
Disease: Intestinal Diseases, Parasitic
Intestinal Diseases, Parasitic
group Digestive System Diseases; Infections Disease or Syndrome 19 0.010 None 1.000 1 2015 2015
CUI: C3826457
Disease: Diabetes in children
Diabetes in children
disease Disease or Syndrome 22 2 0.010 None 1.000 1 1998 1998
CUI: C0025218
Disease: Chloasma
Chloasma
disease Skin and Connective Tissue Diseases Disease or Syndrome 25 0.010 None 1.000 1 2019 2019
CUI: C0410203
Disease: X-linked centronuclear myopathy
X-linked centronuclear myopathy
disease Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 29 140 0.010 None 1.000 1 2019 2019
CUI: C0019269
Disease: Hermaphroditism
Hermaphroditism
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 34 0.010 None 1.000 1 2017 2017
CUI: C1321872
Disease: Stage IV Skin Melanoma
Stage IV Skin Melanoma
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 45 29 0.010 None 1.000 1 2014 2014
CUI: C0861352
Disease: Lobular Neoplasia
Lobular Neoplasia
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 49 3 0.010 None 1.000 1 2017 2017
CUI: C0010520
Disease: Cyanosis
Cyanosis
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 54 2 0.100 None 0
CUI: C0206093
Disease: Neuroectodermal Tumors
Neuroectodermal Tumors
disease Neoplasms Neoplastic Process 56 0.010 None 1.000 1 2000 2000
CUI: C0034186
Disease: Pyelonephritis
Pyelonephritis
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 71 0.010 None 1.000 1 2019 2019
CUI: C0085166
Disease: Bacterial Vaginosis
Bacterial Vaginosis
disease Female Urogenital Diseases and Pregnancy Complications; Infections Disease or Syndrome 73 15 0.010 None 1.000 1 2019 2019
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases Disease or Syndrome 85 187 0.040 None 1.000 4 2005 2017
CUI: C0038826
Disease: Superinfection
Superinfection
group Infections Disease or Syndrome 85 0.010 None 1.000 1 1986 1986
CUI: C0220981
Disease: Metabolic acidosis
Metabolic acidosis
phenotype Nutritional and Metabolic Diseases Pathologic Function 85 0.100 None 0
CUI: C0015644
Disease: Muscular fasciculation
Muscular fasciculation
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 99 2 0.010 None 1.000 1 2017 2017
CUI: C0024534
Disease: Malaria, Cerebral
Malaria, Cerebral
disease Infections; Nervous System Diseases Disease or Syndrome 148 34 0.010 None 1.000 1 2017 2017
CUI: C1836440
Disease: Increased serum lactate
Increased serum lactate
phenotype Nutritional and Metabolic Diseases Finding 169 2 0.100 None 0
CUI: C0001125
Disease: Acidosis, Lactic
Acidosis, Lactic
phenotype Nutritional and Metabolic Diseases Disease or Syndrome 209 21 0.110 None 1.000 1 1 2007 2007
CUI: C0042164
Disease: Uveitis
Uveitis
disease Eye Diseases Disease or Syndrome 247 43 0.010 None 1.000 1 2017 2017
CUI: C0275524
Disease: Coinfection
Coinfection
phenotype Infections Disease or Syndrome 252 11 0.010 None 1.000 1 2019 2019