DIAPH1, diaphanous related formin 1, 1729

N. diseases: 71; N. variants: 12
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: C1832425
Disease: Deafness, Autosomal Dominant 9
Deafness, Autosomal Dominant 9
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 4 10 0.010 None 1.000 1 2002 2002
CUI: C0043207
Disease: Wolfram Syndrome
Wolfram Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 28 7 0.010 None 1.000 1 2004 2004
Sensorineural Hearing Loss (disorder)
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 783 111 0.130 None 1.000 3 3 2006 2016
CUI: C0025202
Disease: melanoma
melanoma
disease Neoplasms Neoplastic Process 3087 515 0.010 None 1.000 1 2006 2006
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
phenotype Neoplastic Process 6626 169 0.040 None 1.000 4 2007 2018
CUI: C0022876
Disease: Premature Obstetric Labor
Premature Obstetric Labor
phenotype Female Urogenital Diseases and Pregnancy Complications Pathologic Function 18 0.010 None 1.000 1 2007 2007
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME
group Hemic and Lymphatic Diseases Neoplastic Process 1033 95 0.010 None 1.000 1 2009 2009
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors
group Digestive System Diseases; Neoplasms Neoplastic Process 538 154 0.010 None 1.000 1 2013 2013
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 6385 327 0.030 None 1.000 3 2014 2015
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 2832 275 0.020 None 1.000 2 2014 2015
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
disease Digestive System Diseases; Neoplasms Neoplastic Process 2969 688 0.020 None 1.000 2 2014 2015
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme
disease Neoplasms Neoplastic Process 3197 186 0.010 None 1.000 1 2014 2014
Malignant neoplasm of colon and/or rectum
disease Neoplastic Process 3669 502 0.010 None < 0.001 1 2014 2014
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 5473 1962 0.010 None < 0.001 1 2014 2014
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
disease Neoplasms Neoplastic Process 3177 281 0.010 None 1.000 1 2014 2014
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma
disease Neoplasms Neoplastic Process 2528 98 0.010 None 1.000 1 2014 2014
CUI: C0280474
Disease: Childhood Glioblastoma
Childhood Glioblastoma
disease Neoplasms Neoplastic Process 2527 98 0.010 None 1.000 1 2014 2014
CUI: C0025958
Disease: Microcephaly
Microcephaly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 1064 27 0.130 None 1.000 3 1 2015 2017
CUI: C2939419
Disease: Secondary Neoplasm
Secondary Neoplasm
group Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 2492 85 0.010 None 1.000 1 2015 2015
Secondary malignant neoplasm of lung
disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 1370 20 0.010 None 1.000 1 2015 2015
CUI: C0007115
Disease: Malignant neoplasm of thyroid
Malignant neoplasm of thyroid
disease Neoplasms; Endocrine System Diseases Neoplastic Process 949 103 0.010 None 1.000 1 2015 2015
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm
disease Neoplasms; Endocrine System Diseases Neoplastic Process 1164 135 0.010 None 1.000 1 2015 2015
CUI: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma
disease Neoplasms; Endocrine System Diseases Neoplastic Process 1175 145 0.010 None 1.000 1 2015 2015
CUI: C2751260
Disease: Macrothrombocytopenia
Macrothrombocytopenia
disease Hemic and Lymphatic Diseases Disease or Syndrome 34 31 0.020 None 1.000 2 1 2016 2017
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease Mental or Behavioral Dysfunction 1825 553 0.400 strong 1.000 1 1 2016 2016