SEM1, SEM1 26S proteasome complex subunit, 7979

N. diseases: 61; N. variants: 19
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: C2931019
Disease: Split hand foot deformity 1
Split hand foot deformity 1
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 71 8 0.350 limited 1.000 5 1994 2009
CUI: C0265554
Disease: Ectrodactyly
Ectrodactyly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 36 2 0.340 None 1.000 5 1994 2012
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
disease Neoplasms Neoplastic Process 2507 257 0.310 None 1.000 2 2008 2017
CUI: C4505353
Disease: Diverticular Bleeding
Diverticular Bleeding
disease Digestive System Diseases Disease or Syndrome 13 0.300 None 1.000 1 2018 2018
CUI: C4317009
Disease: Diverticular Diseases
Diverticular Diseases
group Digestive System Diseases Disease or Syndrome 83 88 0.300 None 1.000 1 2018 2018
CUI: C0221373
Disease: Claw hand
Claw hand
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 63 3 0.170 None 1.000 7 1994 2017
CUI: C0005938
Disease: Bone Density
Bone Density
phenotype Clinical Attribute 138 654 0.100 None 1.000 3 17 2009 2018
CUI: C0177804
Disease: Bone Mineral Density Test
Bone Mineral Density Test
phenotype Diagnostic Procedure 54 314 0.100 None 1.000 2 2 2012 2014
CUI: C0202455
Disease: Platinum measurement
Platinum measurement
phenotype Laboratory Procedure 6 7 0.100 None 1.000 1 1 2019 2019
CUI: C0221352
Disease: Syndactyly of fingers
Syndactyly of fingers
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases Congenital Abnormality 171 12 0.100 None 0
CUI: C0265594
Disease: Congenital absence of hand
Congenital absence of hand
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 18 0.100 None 0
CUI: C0728895
Disease: Absent finger
Absent finger
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 26 0.100 None 0
Sensorineural Hearing Loss (disorder)
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 783 111 0.100 None 0
CUI: C0003076
Disease: Aniridia
Aniridia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 83 29 0.100 None 0
CUI: C0426868
Disease: Absence of hand
Absence of hand
phenotype Finding 18 0.100 None 0
CUI: C3887496
Disease: Oligodactyly
Oligodactyly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 20 0.100 None 0
CUI: C2699510
Disease: Split-Hand/Foot Malformation
Split-Hand/Foot Malformation
disease Pathological Conditions, Signs and Symptoms Congenital Abnormality 50 6 0.080 None 1.000 8 1994 2018
CUI: C0432028
Disease: Split foot
Split foot
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 21 2 0.060 None 1.000 6 1994 2017
CUI: C0016508
Disease: Congenital Foot Deformity
Congenital Foot Deformity
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 18 1 0.030 None 1.000 3 1996 2012
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 2013
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 2013
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 6385 327 0.020 None 1.000 2 2013 2017
CUI: C0038356
Disease: Stomach Neoplasms
Stomach Neoplasms
group Digestive System Diseases; Neoplasms Neoplastic Process 820 55 0.020 None 1.000 2 2017 2017
CUI: C0027651
Disease: Neoplasms
Neoplasms
group Neoplasms Neoplastic Process 10161 1644 0.020 None 1.000 2 2013 2017
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma
disease Neoplasms; Male Urogenital Diseases Neoplastic Process 4388 1168 0.010 None 1.000 1 2014 2014