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: 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: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 967 579 0.110 None 1.000 1 2007 2007
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy
disease Cardiovascular Diseases Disease or Syndrome 560 635 0.110 None 1.000 1 2007 2007
CUI: C0027651
Disease: Neoplasms
Neoplasms
group Neoplasms Neoplastic Process 10161 1644 0.100 None 0.909 11 1991 2019
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive
disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 842 10 0.100 None 0
CUI: C0476273
Disease: Respiratory distress
Respiratory distress
phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Sign or Symptom 259 16 0.100 None 0
CUI: C0010520
Disease: Cyanosis
Cyanosis
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 54 2 0.100 None 0
CUI: C0035229
Disease: Respiratory Insufficiency
Respiratory Insufficiency
phenotype Respiratory Tract Diseases Pathologic Function 315 15 0.100 None 0
CUI: C4023042
Disease: Abnormality of the mitochondrion
Abnormality of the mitochondrion
disease Anatomical Abnormality 10 0.100 None 0
CUI: C1836440
Disease: Increased serum lactate
Increased serum lactate
phenotype Nutritional and Metabolic Diseases Finding 169 2 0.100 None 0
CUI: C4023050
Disease: Abnormal mitochondrial shape
Abnormal mitochondrial shape
phenotype Finding 1 0.100 None 0
CUI: C0220981
Disease: Metabolic acidosis
Metabolic acidosis
phenotype Nutritional and Metabolic Diseases Pathologic Function 85 0.100 None 0
CUI: C0026848
Disease: Myopathy
Myopathy
group Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 634 166 0.100 None 0
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: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
group Neoplasms Neoplastic Process 8621 1641 0.080 None 1.000 8 2000 2019
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
group Neoplasms Neoplastic Process 8221 1374 0.070 None 1.000 7 2000 2019
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 6243 355 0.050 None 0.600 5 1992 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
Diabetes Mellitus, Insulin-Dependent
disease Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases Disease or Syndrome 1675 954 0.040 None 1.000 4 1996 2004
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6776 2793 0.030 None 1.000 3 1999 2008
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
phenotype Neoplastic Process 6626 169 0.030 None 1.000 3 2012 2018
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
group Cardiovascular Diseases Disease or Syndrome 2322 1085 0.030 None 1.000 3 2004 2018
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 5473 1962 0.030 None 1.000 3 2010 2019
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6941 3417 0.030 None 1.000 3 1999 2008