COL17A1, collagen type XVII alpha 1 chain, 1308

N. diseases: 138; N. variants: 28
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.
Late-onset junctional epidermolysis bullosa
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 1 0.300 None 0
CUI: C0282160
Disease: Aplasia Cutis Congenita
Aplasia Cutis Congenita
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality 393 14 0.100 None 0
CUI: C4551675
Disease: Keratoderma, Palmoplantar
Keratoderma, Palmoplantar
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 165 19 0.100 None 0
CUI: C0037268
Disease: Skin Abnormalities
Skin Abnormalities
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality 106 16 0.100 None 0 1
CUI: C0221260
Disease: Dystrophia unguium
Dystrophia unguium
disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 81 9 0.100 None 0 1
CUI: C1834405
Disease: Nail dysplasia
Nail dysplasia
disease Pathological Conditions, Signs and Symptoms Congenital Abnormality 78 2 0.100 None 0
CUI: C0030193
Disease: Pain
Pain
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 1554 196 0.100 None 0
CUI: C1852150
Disease: Fingerprints, Absence of
Fingerprints, Absence of
phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Finding 4 3 0.100 None 0
CUI: C1856765
Disease: Irregular dentition
Irregular dentition
phenotype Finding 6 1 0.100 None 0 1
CUI: C1856953
Disease: Palmar hyperhidrosis
Palmar hyperhidrosis
phenotype Skin and Connective Tissue Diseases Finding 5 0.100 None 0
CUI: C1856954
Disease: Plantar hyperkeratosis
Plantar hyperkeratosis
phenotype Finding 11 0.100 None 0
CUI: C1856963
Disease: Fragile nails
Fragile nails
phenotype Pathological Conditions, Signs and Symptoms Finding 27 1 0.100 None 0
CUI: C1274743
Disease: Hyperhidrosis Palmaris Et Plantaris
Hyperhidrosis Palmaris Et Plantaris
disease Skin and Connective Tissue Diseases Disease or Syndrome 10 0.100 None 0
CUI: C1260926
Disease: Abnormal pigmentation
Abnormal pigmentation
phenotype Finding 58 5 0.100 None 0
CUI: C0853945
Disease: Oral mucosal blisters
Oral mucosal blisters
phenotype Sign or Symptom 12 0.100 None 0
CUI: C0265998
Disease: ANONYCHIA
ANONYCHIA
disease Pathological Conditions, Signs and Symptoms Congenital Abnormality 30 2 0.100 None 0
CUI: C0345996
Disease: Milium Cyst
Milium Cyst
disease Pathological Conditions, Signs and Symptoms; Neoplasms; Skin and Connective Tissue Diseases Anatomical Abnormality 20 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 1
CUI: C0392163
Disease: Corneal erosion
Corneal erosion
disease Infections; Eye Diseases Disease or Syndrome 33 1 0.100 None 0
CUI: C0162154
Disease: Atrophic scar
Atrophic scar
phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 23 3 0.100 None 0
CUI: C0406438
Disease: Pterygium of nail
Pterygium of nail
disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Anatomical Abnormality 4 1 0.100 None 0 1
CUI: C0152227
Disease: Excessive tearing
Excessive tearing
disease Eye Diseases Disease or Syndrome 26 2 0.100 None 0
Flexion contracture of proximal interphalangeal joint
phenotype Finding 168 7 0.100 None 0
CUI: C0456070
Disease: Growth delay
Growth delay
phenotype Pathologic Function 244 40 0.100 None 0
CUI: C0085636
Disease: Photophobia
Photophobia
phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Sign or Symptom 227 7 0.100 None 0