CLCN7, chloride voltage-gated channel 7, 1186

N. diseases: 135; N. variants: 25
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: C3179239
Disease: Osteopetrosis Autosomal Dominant Type 2
Osteopetrosis Autosomal Dominant Type 2 		disease Musculoskeletal Diseases Disease or Syndrome 4 7 0.930 None 1.000 9 7 2001 2019
CUI: C1969106
Disease: Osteopetrosis, Autosomal Recessive 4
Osteopetrosis, Autosomal Recessive 4 		disease Musculoskeletal Diseases Disease or Syndrome 1 20 0.900 None 1.000 8 20 2001 2016
CUI: C0029454
Disease: Osteopetrosis
Osteopetrosis 		disease Musculoskeletal Diseases Disease or Syndrome 74 5 0.500 None 0.947 38 3 2001 2019
CUI: C1318518
Disease: Infantile malignant osteopetrosis
Infantile malignant osteopetrosis 		disease Musculoskeletal Diseases Congenital Abnormality 13 0.370 None 1.000 10 2001 2018
CUI: C1969093
Disease: Osteopetrosis, Autosomal Recessive 6
Osteopetrosis, Autosomal Recessive 6 		disease Musculoskeletal Diseases Disease or Syndrome 3 0.300 None 1.000 1 2003 2003
CUI: C0432261
Disease: Osteopetrosis - intermediate type
Osteopetrosis - intermediate type 		disease Musculoskeletal Diseases Disease or Syndrome 3 0.300 None 1.000 1 2003 2003
CUI: C3645711
Disease: Congenital Osteopetrosis
Congenital Osteopetrosis 		disease Musculoskeletal Diseases Disease or Syndrome 4 0.300 None 0
CUI: C0030193
Disease: Pain
Pain 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 1554 196 0.200 None 1.000 1 2002 2002
CUI: C0029464
Disease: Osteosclerosis
Osteosclerosis 		disease Musculoskeletal Diseases Disease or Syndrome 82 1 0.140 None 1.000 4 1 2010 2017
CUI: C0029443
Disease: Osteomyelitis
Osteomyelitis 		disease Infections; Musculoskeletal Diseases Disease or Syndrome 121 14 0.110 None 1.000 1 2007 2007
CUI: C0162835
Disease: Hypopigmentation disorder
Hypopigmentation disorder 		disease Skin and Connective Tissue Diseases Disease or Syndrome 126 15 0.110 None 1.000 1 1 2019 2019
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		disease Musculoskeletal Diseases Disease or Syndrome 1827 247 0.110 None 1.000 1 2015 2015
CUI: C4272579
Disease: Autosomal Dominant Osteopetrosis
Autosomal Dominant Osteopetrosis 		disease Musculoskeletal Diseases Disease or Syndrome 14 1 0.100 None 1.000 22 1 2003 2019
CUI: C4272578
Disease: Autosomal Recessive Osteopetrosis
Autosomal Recessive Osteopetrosis 		disease Musculoskeletal Diseases Disease or Syndrome 24 3 0.100 None 1.000 11 3 2003 2019
CUI: C1839829
Disease: Short distal phalanx of finger
Short distal phalanx of finger 		phenotype Finding 85 3 0.100 None 0
CUI: C1855895
Disease: Erlenmeyer flask deformity of the femurs
Erlenmeyer flask deformity of the femurs 		phenotype Finding 7 0.100 None 0
CUI: C1839866
Disease: Elevated serum acid phosphatase
Elevated serum acid phosphatase 		phenotype Nutritional and Metabolic Diseases Finding 4 0.100 None 0
CUI: C1855340
Disease: Bowing of the long bones
Bowing of the long bones 		phenotype Congenital Abnormality 63 5 0.100 None 0
CUI: C1843331
Disease: Generalized osteosclerosis
Generalized osteosclerosis 		phenotype Musculoskeletal Diseases Finding 8 0.100 None 0
CUI: C1850134
Disease: Sandwich appearance of vertebral bodies
Sandwich appearance of vertebral bodies 		phenotype Finding 3 0.100 None 0
CUI: C1842083
Disease: Abnormality of the ribs
Abnormality of the ribs 		disease Anatomical Abnormality 69 5 0.100 None 0
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay 		disease Mental Disorders Disease or Syndrome 118 59 0.100 None 0
CUI: C1837260
Disease: Prominent forehead
Prominent forehead 		phenotype Finding 159 25 0.100 None 0 1
CUI: C0349588
Disease: Short stature
Short stature 		phenotype Finding 1127 292 0.100 None 0
CUI: C0423798
Disease: Increased tendency to bruise
Increased tendency to bruise 		phenotype Wounds and Injuries Finding 133 14 0.100 None 0