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: C4225261
Disease: SEIZURES, CORTICAL BLINDNESS, AND MICROCEPHALY SYNDROME
SEIZURES, CORTICAL BLINDNESS, AND MICROCEPHALY SYNDROME 		disease Disease or Syndrome 1 4 0.700 strong 1.000 4 4 1989 2016
CUI: C1852282
Disease: DEAFNESS, AUTOSOMAL DOMINANT 1 (disorder)
DEAFNESS, AUTOSOMAL DOMINANT 1 (disorder) 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 4 0.610 definitive 1.000 11 1997 2017
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: C2749559
Disease: Methemoglobinemia, Type I
Methemoglobinemia, Type I 		disease Hemic and Lymphatic Diseases Disease or Syndrome 4 8 0.010 None 1.000 1 2000 2000
CUI: C1866095
Disease: Deafness, Autosomal Dominant 13
Deafness, Autosomal Dominant 13 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 6 3 0.010 None 1.000 1 2002 2002
CUI: C1838701
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 2
DEAFNESS, AUTOSOMAL RECESSIVE 2 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 7 135 0.010 None 1.000 1 2002 2002
CUI: C1842138
Disease: Progressive hearing impairment
Progressive hearing impairment 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Finding 14 2 0.100 None 0
CUI: C0271514
Disease: Low frequency deafness
Low frequency deafness 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 15 1 0.120 None 1.000 2 2002 2004
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: 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
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: C1837352
Disease: Childhood onset
Childhood onset 		phenotype Finding 56 0.100 None 0
CUI: C1843156
Disease: Progressive sensorineural hearing impairment
Progressive sensorineural hearing impairment 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 78 28 0.010 None 1.000 1 1997 1997
CUI: C0040264
Disease: Tinnitus
Tinnitus 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 103 14 0.010 None 1.000 1 2002 2002
CUI: C4048268
Disease: Cortical visual impairment
Cortical visual impairment 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Pathologic Function 136 27 0.100 None 0
CUI: C3810365
Disease: Central visual impairment
Central visual impairment 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 158 1 0.100 None 0
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		phenotype Finding 160 246 0.100 None 0 1
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 163 66 0.020 None 1.000 2 1997 2008
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Mental Disorders Disease or Syndrome 166 122 0.100 None 0 1
CUI: C0006267
Disease: Bronchiectasis
Bronchiectasis 		disease Respiratory Tract Diseases Disease or Syndrome 190 15 0.010 None 1.000 1 1 2016 2016
CUI: C1527304
Disease: Allergic Reaction
Allergic Reaction 		phenotype Immune System Diseases Pathologic Function 197 1019 0.100 None 1.000 1 1 2017 2017
CUI: C1848207
Disease: Poor speech
Poor speech 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 208 9 0.100 None 0
CUI: C0200665
Disease: Platelet mean volume determination (procedure)
Platelet mean volume determination (procedure) 		phenotype Laboratory Procedure 223 371 0.100 None 1.000 1 1 2016 2016
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 385 49 0.100 None 0
CUI: C0280324
Disease: Laryngeal Squamous Cell Carcinoma
Laryngeal Squamous Cell Carcinoma 		disease Neoplasms; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Neoplastic Process 504 30 0.010 None 1.000 1 2019 2019