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: C0238397
Disease: Pulmonary artery stenosis
Pulmonary artery stenosis 		disease Cardiovascular Diseases Anatomical Abnormality 36 2 0.100 None 0
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		disease Disease or Syndrome 321 67 0.100 None 0
CUI: C1290708
Disease: Osteomyelitis of mandible
Osteomyelitis of mandible 		disease Infections; Musculoskeletal Diseases Disease or Syndrome 3 0.100 None 0
CUI: C1314665
Disease: Serum alkaline phosphatase raised
Serum alkaline phosphatase raised 		phenotype Finding 67 6 0.100 None 0
CUI: C1384666
Disease: hearing impairment
hearing impairment 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 740 337 0.100 None 0
CUI: C1832160
Disease: Abnormality of temperature regulation
Abnormality of temperature regulation 		phenotype Finding 19 3 0.100 None 0
CUI: C1837260
Disease: Prominent forehead
Prominent forehead 		phenotype Finding 159 25 0.100 None 0 1
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay 		disease Mental Disorders Disease or Syndrome 118 59 0.100 None 0
CUI: C1839829
Disease: Short distal phalanx of finger
Short distal phalanx of finger 		phenotype Finding 85 3 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: C1842083
Disease: Abnormality of the ribs
Abnormality of the ribs 		disease Anatomical Abnormality 69 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: C1855340
Disease: Bowing of the long bones
Bowing of the long bones 		phenotype Congenital Abnormality 63 5 0.100 None 0
CUI: C0576093
Disease: Knee joint valgus deformity
Knee joint valgus deformity 		disease Musculoskeletal Diseases Anatomical Abnormality 117 5 0.100 None 0
CUI: C0554970
Disease: Pallor of optic disc
Pallor of optic disc 		phenotype Finding 98 4 0.100 None 0
CUI: C0239174
Disease: Late tooth eruption
Late tooth eruption 		phenotype Finding 139 4 0.100 None 0
CUI: C0240231
Disease: Fractures of the long bones
Fractures of the long bones 		phenotype Wounds and Injuries Finding 6 1 0.100 None 0
CUI: C0241144
Disease: Petechiae of skin
Petechiae of skin 		phenotype Pathological Conditions, Signs and Symptoms; Hemic and Lymphatic Diseases Sign or Symptom 54 2 0.100 None 0
CUI: C0242567
Disease: Opsoclonus
Opsoclonus 		disease Eye Diseases; Nervous System Diseases Disease or Syndrome 5 0.100 None 0
CUI: C0266052
Disease: Precocious exfoliation of primary tooth
Precocious exfoliation of primary tooth 		phenotype Stomatognathic Diseases Finding 20 0.100 None 0
CUI: C0271344
Disease: Compression of optic nerve
Compression of optic nerve 		phenotype Eye Diseases; Nervous System Diseases Disease or Syndrome 8 0.100 None 0
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
CUI: C0426790
Disease: Narrow thorax
Narrow thorax 		phenotype Finding 112 18 0.100 None 0