MYSM1, Myb like, SWIRM and MPN domains 1, 114803

N. diseases: 37; N. variants: 3
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: C4748257
Disease: BONE MARROW FAILURE SYNDROME 4
BONE MARROW FAILURE SYNDROME 4
disease Disease or Syndrome 1 2 0.600 moderate 1.000 3 2 2013 2017
CUI: C1855710
Disease: Bone marrow hypocellularity
Bone marrow hypocellularity
phenotype Finding 64 5 0.400 strong 1.000 1 2015 2015
CUI: C0030312
Disease: Pancytopenia
Pancytopenia
disease Hemic and Lymphatic Diseases Disease or Syndrome 253 15 0.310 strong 1.000 2 2015 2017
CUI: C0021051
Disease: Immunologic Deficiency Syndromes
Immunologic Deficiency Syndromes
group Immune System Diseases Disease or Syndrome 973 31 0.300 strong 1.000 1 2015 2015
CUI: C4022738
Disease: Neurodevelopmental delay
Neurodevelopmental delay
phenotype Finding 39 24 0.300 strong 1.000 1 2015 2015
CUI: C1858085
Disease: Malar flattening
Malar flattening
disease Anatomical Abnormality 190 12 0.300 strong 1.000 1 2015 2015
CUI: C0011884
Disease: Diabetic Retinopathy
Diabetic Retinopathy
disease Eye Diseases; Endocrine System Diseases; Cardiovascular Diseases Disease or Syndrome 645 213 0.110 None < 0.001 1 1 2011 2011
CUI: C3806482
Disease: Recurrent respiratory infections
Recurrent respiratory infections
phenotype Infections; Respiratory Tract Diseases Finding 318 7 0.100 None 0
CUI: C0151908
Disease: Dry skin
Dry skin
phenotype Skin and Connective Tissue Diseases Sign or Symptom 159 12 0.100 None 0
CUI: C0002871
Disease: Anemia
Anemia
disease Hemic and Lymphatic Diseases Disease or Syndrome 847 94 0.100 None 0
CUI: C0239234
Disease: Low set ears
Low set ears
disease Congenital Abnormality 489 64 0.100 None 0
CUI: C1853242
Disease: Midface retrusion
Midface retrusion
phenotype Finding 228 0.100 None 0
CUI: C4048270
Disease: Decreased antibody level in blood
Decreased antibody level in blood
phenotype Finding 75 5 0.100 None 0
CUI: C1963094
Disease: Dry Skin, CTCAE
Dry Skin, CTCAE
phenotype Finding 137 0.100 None 0
CUI: C1866730
Disease: Rhizomelia
Rhizomelia
disease Congenital Abnormality 57 6 0.100 None 0
CUI: C0023530
Disease: Leukopenia
Leukopenia
disease Hemic and Lymphatic Diseases Disease or Syndrome 440 153 0.100 None 0
CUI: C0013595
Disease: Eczema
Eczema
disease Skin and Connective Tissue Diseases Disease or Syndrome 863 368 0.100 None 0
CUI: C0027651
Disease: Neoplasms
Neoplasms
group Neoplasms Neoplastic Process 10161 1644 0.030 None 1.000 3 2017 2019
CUI: C0178874
Disease: Tumor Progression
Tumor Progression
phenotype Pathological Conditions, Signs and Symptoms Neoplastic Process 3865 72 0.020 None 1.000 2 2017 2017
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 5473 1962 0.020 None 1.000 2 2017 2017
Malignant neoplasm of colon and/or rectum
disease Neoplastic Process 3669 502 0.020 None 1.000 2 2017 2017
CUI: C0011847
Disease: Diabetes
Diabetes
disease Endocrine System Diseases Disease or Syndrome 2359 710 0.010 None < 0.001 1 2011 2011
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME
group Hemic and Lymphatic Diseases Neoplastic Process 1033 95 0.010 None 1.000 1 2019 2019
CUI: C1868810
Disease: Neutrophilic panniculitis
Neutrophilic panniculitis
disease Skin and Connective Tissue Diseases Disease or Syndrome 3 0.010 None 1.000 1 2019 2019
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases
group Digestive System Diseases Disease or Syndrome 1577 605 0.010 None 1.000 1 2019 2019