FHL1, four and a half LIM domains 1, 2273

N. diseases: 195; N. variants: 22
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.
X-Linked Emery-Dreifuss Muscular Dystrophy
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 20 33 0.300 None 0
CUI: C1847879
Disease: X-linked dominant inheritance
X-linked dominant inheritance
phenotype Finding 65 0.100 None 0
CUI: C1845977
Disease: X- linked recessive
X- linked recessive
phenotype Finding 172 1 0.100 None 0
CUI: C0240953
Disease: Winged scapula
Winged scapula
phenotype Finding 73 3 0.100 None 0
CUI: C0426421
Disease: Wide nose
Wide nose
phenotype Finding 87 1 0.100 None 0
CUI: C0231712
Disease: Waddling gait
Waddling gait
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 113 8 0.100 None 0
CUI: C0042928
Disease: Vocal Cord Paralysis
Vocal Cord Paralysis
disease Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 42 3 0.100 None 0
CUI: C0340279
Disease: Ventricular hypertrophy
Ventricular hypertrophy
disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 60 9 0.100 None 0
CUI: C0232216
Disease: Ventricular escape rhythm
Ventricular escape rhythm
phenotype Pathologic Function 7 0.100 None 0
URUGUAY FACIOCARDIOMUSCULOSKELETAL SYNDROME
phenotype Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 1 0.300 strong 1.000 1 2018 2018
CUI: C4023180
Disease: Type 1 muscle fiber atrophy
Type 1 muscle fiber atrophy
disease Disease or Syndrome 16 0.100 None 0
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
phenotype Neoplastic Process 6626 169 0.040 None 1.000 4 2008 2013
CUI: C0427144
Disease: Toe-walking gait
Toe-walking gait
phenotype Finding 50 4 0.100 None 0
CUI: C0431447
Disease: Synophrys
Synophrys
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality 111 23 0.100 None 0
Supraventricular Arrhythmia by ECG Finding
phenotype Laboratory or Test Result 11 0.100 None 0
CUI: C0428974
Disease: Supraventricular arrhythmia
Supraventricular arrhythmia
phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 19 2 0.100 None 0
CUI: C0085298
Disease: Sudden Cardiac Death
Sudden Cardiac Death
phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Pathologic Function 133 40 0.100 None 0
CUI: C0038356
Disease: Stomach Neoplasms
Stomach Neoplasms
group Digestive System Diseases; Neoplasms Neoplastic Process 820 55 0.010 None 1.000 1 2008 2008
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 3720 652 0.020 None 1.000 2 2008 2012
Squamous cell carcinoma of the head and neck
disease Neoplasms Neoplastic Process 1543 348 0.010 None 1.000 1 2016 2016
CUI: C0553723
Disease: Squamous cell carcinoma of skin
Squamous cell carcinoma of skin
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 458 92 0.010 None 1.000 1 2014 2014
Squamous cell carcinoma of esophagus
disease Digestive System Diseases; Neoplasms Neoplastic Process 2053 329 0.010 None 1.000 1 2013 2013
CUI: C0152438
Disease: Sprengel deformity
Sprengel deformity
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 29 4 0.100 None 0
CUI: C1858025
Disease: Spinal rigidity
Spinal rigidity
phenotype Finding 55 3 0.100 None 0
CUI: C0264142
Disease: Spade-like hand
Spade-like hand
disease Musculoskeletal Diseases Congenital Abnormality 24 0.100 None 0