COL7A1, collagen type VII alpha 1 chain, 1294

N. diseases: 160; N. variants: 87
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: C4518087
Disease: Acral dystrophic epidermolysis bullosa
Acral dystrophic epidermolysis bullosa 		disease Disease or Syndrome 1 0.300 None 0
CUI: C4511056
Disease: Centripetalis recessive dystrophic epidermolysis bullosa
Centripetalis recessive dystrophic epidermolysis bullosa 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 1 0.300 None 0
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		phenotype Finding 473 62 0.100 None 0
CUI: C0423757
Disease: Thin skin
Thin skin 		phenotype Finding 77 4 0.100 None 0
CUI: C0427065
Disease: Distal muscle weakness
Distal muscle weakness 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Finding 117 16 0.100 None 0 2
CUI: C0456070
Disease: Growth delay
Growth delay 		phenotype Pathologic Function 244 40 0.100 None 0
CUI: C0476403
Disease: Electromyogram abnormal
Electromyogram abnormal 		phenotype Finding 130 12 0.100 None 0 2
CUI: C0574769
Disease: Loss of scalp hair
Loss of scalp hair 		phenotype Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Finding 16 4 0.100 None 0 2
CUI: C0853945
Disease: Oral mucosal blisters
Oral mucosal blisters 		phenotype Sign or Symptom 12 0.100 None 0
CUI: C0870082
Disease: Hyperkeratosis
Hyperkeratosis 		disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 176 19 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: C1519353
Disease: Skin Papule
Skin Papule 		phenotype Skin and Connective Tissue Diseases Finding 74 0.100 None 0
CUI: C1565489
Disease: Renal Insufficiency
Renal Insufficiency 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 615 42 0.100 None 0
CUI: C1833225
Disease: Dystrophic toenail
Dystrophic toenail 		phenotype Finding 18 0.100 None 0
CUI: C1834405
Disease: Nail dysplasia
Nail dysplasia 		disease Pathological Conditions, Signs and Symptoms Congenital Abnormality 78 2 0.100 None 0
CUI: C1836735
Disease: hypopigmented skin patch
hypopigmented skin patch 		phenotype Skin and Connective Tissue Diseases Finding 123 2 0.100 None 0
CUI: C0395837
Disease: Stenosis of external auditory canal
Stenosis of external auditory canal 		disease Disease or Syndrome 25 4 0.100 None 0
CUI: C0392163
Disease: Corneal erosion
Corneal erosion 		disease Infections; Eye Diseases Disease or Syndrome 33 1 0.100 None 0
CUI: C0238115
Disease: Boerhaave syndrome
Boerhaave syndrome 		disease Digestive System Diseases; Respiratory Tract Diseases; Wounds and Injuries Disease or Syndrome 2 0.100 None 0
CUI: C0239981
Disease: Hypoalbuminemia
Hypoalbuminemia 		disease Hemic and Lymphatic Diseases Disease or Syndrome 107 9 0.100 None 0
CUI: C0241181
Disease: Fragile skin
Fragile skin 		phenotype Finding 26 5 0.100 None 0
CUI: C0241423
Disease: Atrophy of tongue
Atrophy of tongue 		disease Pathological Conditions, Signs and Symptoms; Stomatognathic Diseases Disease or Syndrome 10 0.100 None 0
CUI: C0262444
Disease: Abnormality of the dentition
Abnormality of the dentition 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Finding 140 16 0.100 None 0 2
CUI: C0265660
Disease: Syndactyly of the toes
Syndactyly of the toes 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 129 11 0.100 None 0 2
CUI: C0271321
Disease: Madarosis of eyelid
Madarosis of eyelid 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Skin and Connective Tissue Diseases; Endocrine System Diseases Disease or Syndrome 4 0.100 None 0