RPS7, ribosomal protein S7, 6201

N. diseases: 52; N. variants: 2
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2675511
Disease: Diamond-Blackfan Anemia 8
Diamond-Blackfan Anemia 8
0.600 CausalMutation disease CLINVAR
CUI: C2675511
Disease: Diamond-Blackfan Anemia 8
Diamond-Blackfan Anemia 8
0.600 Biomarker disease CTD_human
CUI: C1260899
Disease: Anemia, Diamond-Blackfan
Anemia, Diamond-Blackfan
0.450 CausalMutation disease CLINVAR
CUI: C0002886
Disease: Anemia, Macrocytic
Anemia, Macrocytic
0.100 Biomarker disease HPO
CUI: C0003811
Disease: Cardiac Arrhythmia
Cardiac Arrhythmia
0.100 Biomarker phenotype HPO
CUI: C0008925
Disease: Cleft Palate
Cleft Palate
0.100 Biomarker disease HPO
CUI: C0013336
Disease: Dwarfism
Dwarfism
0.100 Biomarker disease HPO
CUI: C0015672
Disease: Fatigue
Fatigue
0.100 Biomarker phenotype HPO
CUI: C0018564
Disease: Hand deformities
Hand deformities
0.100 Biomarker group HPO
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive
0.100 Biomarker phenotype HPO
CUI: C0027947
Disease: Neutropenia
Neutropenia
0.100 Biomarker disease HPO
CUI: C0030232
Disease: Pallor
Pallor
0.100 Biomarker phenotype HPO
CUI: C0034012
Disease: Delayed Puberty
Delayed Puberty
0.100 Biomarker phenotype HPO
CUI: C0085669
Disease: Acute leukemia
Acute leukemia
0.100 Biomarker disease HPO
CUI: C0149931
Disease: Migraine Disorders
Migraine Disorders
0.100 Biomarker group HPO
CUI: C0302845
Disease: MCV - raised
MCV - raised
0.100 Biomarker phenotype HPO
CUI: C0349588
Disease: Short stature
Short stature
0.100 Biomarker phenotype HPO
CUI: C0744356
Disease: Abnormality of the genital system
Abnormality of the genital system
0.100 Biomarker phenotype HPO
CUI: C1839739
Disease: Thick lower lip vermilion
Thick lower lip vermilion
0.100 Biomarker phenotype HPO
CUI: C1842876
Disease: Depressed nasal ridge
Depressed nasal ridge
0.100 Biomarker phenotype HPO
CUI: C1846423
Disease: Thick upper lip vermilion
Thick upper lip vermilion
0.100 Biomarker phenotype HPO
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide
0.100 Biomarker phenotype HPO
CUI: C1854114
Disease: Short nose
Short nose
0.100 Biomarker phenotype HPO
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE
0.100 Biomarker phenotype HPO
CUI: C4021821
Disease: Abnormality of the urinary system
Abnormality of the urinary system
0.100 Biomarker disease HPO