Phosphoglycerate Kinase 1 Deficiency
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
Disease or Syndrome
3
18
0.770
None
1.000
17
14
1980
2019
Liver carcinoma
disease
Digestive System Diseases; Neoplasms
Neoplastic Process
5725
942
0.360
None
0.714
7
1998
2019
Deficiency of phosphoglycerate kinase
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
Disease or Syndrome
3
6
0.340
None
1.000
5
2
1992
2019
Renal Cell Carcinoma
disease
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
Neoplastic Process
2084
288
0.310
None
1.000
2
2004
2018
Conventional (Clear Cell) Renal Cell Carcinoma
disease
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
Neoplastic Process
2346
222
0.310
None
1.000
2
2004
2018
Collecting Duct Carcinoma of the Kidney
disease
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
Neoplastic Process
162
0.300
None
1.000
1
2004
2004
Chromophobe Renal Cell Carcinoma
disease
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
Neoplastic Process
185
2
0.300
None
1.000
1
2004
2004
Papillary Renal Cell Carcinoma
disease
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
Neoplastic Process
223
3
0.300
None
1.000
1
2004
2004
Sarcomatoid Renal Cell Carcinoma
disease
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
Neoplastic Process
134
0.300
None
1.000
1
2004
2004
Glycogen Storage Disease
group
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
Disease or Syndrome
63
16
0.300
limited
0
Myopathy
group
Musculoskeletal Diseases; Nervous System Diseases
Disease or Syndrome
634
166
0.130
None
1.000
3
2
2010
2019
Menkes Kinky Hair Syndrome
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases
Disease or Syndrome
20
99
0.120
None
1.000
3
99
1991
2011
Anemia, Hemolytic
disease
Hemic and Lymphatic Diseases
Disease or Syndrome
154
31
0.120
None
1.000
2
2006
2019
Intellectual Disability
group
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
Mental or Behavioral Dysfunction
2165
159
0.110
None
1.000
1
2006
2006
Neoplasms
group
Neoplasms
Neoplastic Process
10161
1644
0.100
None
1.000
14
1994
2019
Body Height
phenotype
Organism Attribute
1903
3972
0.100
None
1.000
1
1
2019
2019
Pallor
phenotype
Pathological Conditions, Signs and Symptoms
Finding
124
4
0.100
None
0
1
Myoglobinuria
phenotype
Musculoskeletal Diseases
Finding
17
1
0.100
None
0
Rhabdomyolysis
phenotype
Musculoskeletal Diseases
Pathologic Function
36
15
0.100
None
0
Retinal Dystrophies
group
Eye Diseases
Disease or Syndrome
219
227
0.100
None
0
×
CUI:
C0037763
Disease:
Spasm
Spasm
phenotype
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
Sign or Symptom
172
9
0.100
None
0
Impaired exercise tolerance
phenotype
Finding
76
7
0.100
None
0
Cutis laxa, x-linked
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases
Congenital Abnormality
22
10
0.100
None
0
10
Delayed speech and language development
phenotype
Behavior and Behavior Mechanisms
Finding
560
192
0.100
None
0
Blindness
phenotype
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
Disease or Syndrome
393
34
0.100
None
0