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.
CUI: C0272187
Disease: Congenital leukocyte adherence deficiency
Congenital leukocyte adherence deficiency 		disease Disease or Syndrome 14 12 0.020 None 1.000 2 2000 2015
CUI: C0000846
Disease: Agenesis
Agenesis 		disease Congenital Abnormality 161 44 0.010 None 1.000 1 2018 2018
CUI: C0278488
Disease: Carcinoma breast stage IV
Carcinoma breast stage IV 		disease Neoplastic Process 573 14 0.010 None 1.000 1 2018 2018
CUI: C0406653
Disease: Eosinophilic spongiosis
Eosinophilic spongiosis 		disease Disease or Syndrome 2 0.010 None 1.000 1 2019 2019
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		phenotype Neoplastic Process 6626 169 0.010 None 1.000 1 2017 2017
CUI: C1332271
Disease: Perianal Squamous Intraepithelial Neoplasia
Perianal Squamous Intraepithelial Neoplasia 		disease Neoplastic Process 52 0.010 None 1.000 1 1996 1996
CUI: C1336862
Disease: Parotid Gland Undifferentiated Carcinoma
Parotid Gland Undifferentiated Carcinoma 		disease Neoplastic Process 1 0.010 None 1.000 1 2000 2000
CUI: C4025327
Disease: Congenital pyloric atresia
Congenital pyloric atresia 		disease Congenital Abnormality 6 2 0.010 None 1.000 1 1999 1999
CUI: C0409348
Disease: Flexion contracture of proximal interphalangeal joint
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: C0853945
Disease: Oral mucosal blisters
Oral mucosal blisters 		phenotype Sign or Symptom 12 0.100 None 0
CUI: C1260926
Disease: Abnormal pigmentation
Abnormal pigmentation 		phenotype Finding 58 5 0.100 None 0
CUI: C1856765
Disease: Irregular dentition
Irregular dentition 		phenotype Finding 6 1 0.100 None 0 1
CUI: C1856954
Disease: Plantar hyperkeratosis
Plantar hyperkeratosis 		phenotype Finding 11 0.100 None 0
CUI: C1857042
Disease: Sparse scalp hair
Sparse scalp hair 		phenotype Finding 85 7 0.100 None 0 1
CUI: C1862863
Disease: Sparse body hair
Sparse body hair 		phenotype Finding 57 0.100 None 0
CUI: C1866510
Disease: Discolored lateral incisors
Discolored lateral incisors 		phenotype Finding 1 1 0.100 None 0 1
CUI: C2047516
Disease: Hyperkeratotic papule
Hyperkeratotic papule 		phenotype Finding 1 1 0.100 None 0 1
CUI: C2132198
Disease: Abnormal blistering of the skin
Abnormal blistering of the skin 		phenotype Finding 75 10 0.100 None 0 1
CUI: C3277900
Disease: NAIL DISORDER, NONSYNDROMIC CONGENITAL, 4
NAIL DISORDER, NONSYNDROMIC CONGENITAL, 4 		disease Disease or Syndrome 4 13 0.100 None 0 1
CUI: C3279947
Disease: NAIL DISORDER, NONSYNDROMIC CONGENITAL, 9
NAIL DISORDER, NONSYNDROMIC CONGENITAL, 9 		disease Disease or Syndrome 77 1 0.100 None 0
CUI: C3806301
Disease: Scarring alopecia of scalp
Scarring alopecia of scalp 		phenotype Finding 13 3 0.100 None 0
CUI: C4021157
Disease: Generalized abnormality of skin
Generalized abnormality of skin 		disease Anatomical Abnormality 3 1 0.100 None 0 1
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		group Cardiovascular Diseases Disease or Syndrome 2322 1085 0.020 None 1.000 2 1 2017 2017
CUI: C0003504
Disease: Aortic Valve Insufficiency
Aortic Valve Insufficiency 		disease Cardiovascular Diseases Disease or Syndrome 377 8 0.010 None 1.000 1 2006 2006