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.
CUI: C2678055
Disease: MYOPATHY, X-LINKED, WITH POSTURAL MUSCLE ATROPHY (disorder)
MYOPATHY, X-LINKED, WITH POSTURAL MUSCLE ATROPHY (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 1 11 0.780 None 1.000 12 11 2008 2018
CUI: C4225159
Disease: REDUCING BODY MYOPATHY, X-LINKED 1B, WITH LATE CHILDHOOD OR ADULT ONSET
REDUCING BODY MYOPATHY, X-LINKED 1B, WITH LATE CHILDHOOD OR ADULT ONSET 		disease Disease or Syndrome 1 3 0.600 None 1.000 6 3 1995 2018
CUI: C4225423
Disease: REDUCING BODY MYOPATHY, X-LINKED 1A, SEVERE, WITH INFANTILE OR EARLY CHILDHOOD ONSET
REDUCING BODY MYOPATHY, X-LINKED 1A, SEVERE, WITH INFANTILE OR EARLY CHILDHOOD ONSET 		disease Disease or Syndrome 1 5 0.600 None 1.000 4 5 2008 2018
CUI: C1846010
Disease: URUGUAY FACIOCARDIOMUSCULOSKELETAL SYNDROME
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: C2678015
Disease: Myopathy, Reducing Body, X-Linked, Childhood-Onset
Myopathy, Reducing Body, X-Linked, Childhood-Onset 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 1 0.300 None 0
CUI: C2678027
Disease: Myopathy, Reducing Body, X-Linked, Early-Onset, Severe
Myopathy, Reducing Body, X-Linked, Early-Onset, Severe 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 1 0.300 None 0
CUI: C2749106
Disease: Emery-Dreifuss Muscular Dystrophy 6, X-Linked
Emery-Dreifuss Muscular Dystrophy 6, X-Linked 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 1 2 0.400 limited 0 2
CUI: C1846011
Disease: Pugilistic facies
Pugilistic facies 		phenotype Finding 2 0.100 None 0
CUI: C2931268
Disease: Scapuloperoneal myopathy
Scapuloperoneal myopathy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 3 1 0.350 None 1.000 6 1 2008 2015
CUI: C1842161
Disease: Scapuloperoneal weakness
Scapuloperoneal weakness 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Finding 3 0.100 None 0
CUI: C0265910
Disease: Congenital hypoplasia of pulmonary artery
Congenital hypoplasia of pulmonary artery 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases Congenital Abnormality 4 0.010 None 1.000 1 2015 2015
CUI: C1846013
Disease: Marked muscular hypertrophy
Marked muscular hypertrophy 		phenotype Finding 4 0.100 None 0
CUI: C0270970
Disease: Reducing-body myopathy
Reducing-body myopathy 		disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 5 1 0.400 None 1.000 19 2008 2019
CUI: C4551514
Disease: Hemophagocytic Lymphohistiocytosis, Familial, 1
Hemophagocytic Lymphohistiocytosis, Familial, 1 		disease Hemic and Lymphatic Diseases Disease or Syndrome 5 0.020 None 1.000 2 2017 2017
CUI: C0398777
Disease: Complement Factor H Deficiency
Complement Factor H Deficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Immune System Diseases Disease or Syndrome 5 9 0.010 None 1.000 1 2013 2013
CUI: C4022628
Disease: Absent muscle fiber emerin
Absent muscle fiber emerin 		phenotype Finding 6 0.100 None 0
CUI: C0232216
Disease: Ventricular escape rhythm
Ventricular escape rhythm 		phenotype Pathologic Function 7 0.100 None 0
CUI: C1839653
Disease: Decreased cervical spine flexion due to contractures of posterior cervical muscles
Decreased cervical spine flexion due to contractures of posterior cervical muscles 		phenotype Finding 7 0.100 None 0
CUI: C1843112
Disease: Broad nail
Broad nail 		phenotype Finding 9 0.100 None 0
CUI: C1846017
Disease: Progressive pes cavus
Progressive pes cavus 		phenotype Finding 9 0.100 None 0
CUI: C1857484
Disease: Brachyturricephaly
Brachyturricephaly 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Finding 9 2 0.100 None 0
CUI: C1866013
Disease: Proximal upper limb amyotrophy
Proximal upper limb amyotrophy 		phenotype Finding 9 0.100 None 0
CUI: C4021774
Disease: Camptodactyly of toe
Camptodactyly of toe 		disease Anatomical Abnormality 9 1 0.100 None 0
CUI: C0410180
Disease: Eichsfeld type congenital muscular dystrophy
Eichsfeld type congenital muscular dystrophy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 10 24 0.030 None 1.000 3 2008 2015
CUI: C0428975
Disease: Supraventricular Arrhythmia by ECG Finding
Supraventricular Arrhythmia by ECG Finding 		phenotype Laboratory or Test Result 11 0.100 None 0