SEPTIN9, septin 9, 10801

N. diseases: 150; N. variants: 26
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: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		disease Neoplastic Process 3669 502 0.100 None 1.000 24 2009 2019
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		phenotype Neoplastic Process 6626 169 0.040 None 1.000 4 2007 2019
CUI: C0005890
Disease: Body Height
Body Height 		phenotype Organism Attribute 1903 3972 0.100 None 1.000 2 2 2019 2019
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		phenotype Clinical Attribute 843 1931 0.100 None 1.000 2 2 2017 2019
CUI: C1336735
Disease: Treatment related acute myeloid leukaemia
Treatment related acute myeloid leukaemia 		disease Neoplastic Process 65 4 0.020 None 1.000 2 1999 2001
CUI: C0040420
Disease: Tonometry
Tonometry 		phenotype Diagnostic Procedure 206 573 0.100 None 1.000 1 2 2018 2018
CUI: C0042834
Disease: Vital capacity
Vital capacity 		phenotype Clinical Attribute 430 746 0.100 None 1.000 1 1 2019 2019
CUI: C0206161
Disease: Reticulocyte count (procedure)
Reticulocyte count (procedure) 		phenotype Laboratory Procedure 234 474 0.100 None 1.000 1 1 2016 2016
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		disease Congenital Abnormality 439 617 0.010 None 1.000 1 1 2008 2008
CUI: C0521158
Disease: Recurrent tumor
Recurrent tumor 		phenotype Neoplastic Process 735 33 0.010 None 1.000 1 2014 2014
CUI: C0940937
Disease: precancerous lesions
precancerous lesions 		phenotype Neoplastic Process 270 19 0.010 None 1.000 1 2010 2010
CUI: C1112275
Disease: Diabetic gastroenteropathy
Diabetic gastroenteropathy 		disease Disease or Syndrome 4 0.010 None 1.000 1 2020 2020
CUI: C1277709
Disease: Transferrin saturation measurement
Transferrin saturation measurement 		phenotype Laboratory Procedure 26 36 0.100 None 1.000 1 1 2017 2017
CUI: C1318312
Disease: Serum iron measurement
Serum iron measurement 		phenotype Laboratory Procedure 17 25 0.100 None 1.000 1 1 2017 2017
CUI: C3888194
Disease: MIXED LINEAGE LEUKEMIA
MIXED LINEAGE LEUKEMIA 		disease Neoplastic Process 240 2 0.010 None 1.000 1 2008 2008
CUI: C0239234
Disease: Low set ears
Low set ears 		disease Congenital Abnormality 489 64 0.100 None 0
CUI: C0239479
Disease: Round face
Round face 		phenotype Finding 88 3 0.100 None 0
CUI: C0240953
Disease: Winged scapula
Winged scapula 		phenotype Finding 73 3 0.100 None 0
CUI: C0349588
Disease: Short stature
Short stature 		phenotype Finding 1127 292 0.100 None 0
CUI: C0423109
Disease: Upward slant of palpebral fissure
Upward slant of palpebral fissure 		phenotype Finding 216 16 0.100 None 0
CUI: C0424711
Disease: Orbital separation diminished
Orbital separation diminished 		phenotype Finding 89 11 0.100 None 0
CUI: C0476403
Disease: Electromyogram abnormal
Electromyogram abnormal 		phenotype Finding 130 12 0.100 None 0
CUI: C0541794
Disease: Skeletal muscle atrophy
Skeletal muscle atrophy 		phenotype Pathologic Function 306 12 0.100 None 0
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		disease Congenital Abnormality 417 30 0.100 None 0
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		phenotype Finding 426 39 0.100 None 0