DSG4, desmoglein 4, 147409

N. diseases: 40; N. variants: 10
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: C1842839
Disease: HYPOTRICHOSIS 6
HYPOTRICHOSIS 6 		disease Skin and Connective Tissue Diseases Disease or Syndrome 4 7 0.800 strong 1.000 3 7 1996 2004
CUI: C0020678
Disease: Hypotrichosis
Hypotrichosis 		disease Skin and Connective Tissue Diseases Disease or Syndrome 69 2 0.350 None 1.000 6 2003 2015
CUI: C0546966
Disease: Monilethrix
Monilethrix 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality 5 12 0.350 None 1.000 5 1 2006 2015
CUI: C1854310
Disease: Hypotrichosis simplex
Hypotrichosis simplex 		disease Skin and Connective Tissue Diseases Disease or Syndrome 37 5 0.300 None 1.000 1 2006 2006
CUI: C0002170
Disease: Alopecia
Alopecia 		disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 491 375 0.110 None 1.000 1 1 2015 2015
CUI: C0263490
Disease: Brittle hair
Brittle hair 		disease Disease or Syndrome 45 1 0.100 None 0
CUI: C0334013
Disease: Phrynoderma
Phrynoderma 		disease Skin and Connective Tissue Diseases Disease or Syndrome 19 3 0.100 None 0
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		disease Mental Disorders Mental or Behavioral Dysfunction 1630 348 0.100 None 0
CUI: C1843300
Disease: Sparse eyelashes
Sparse eyelashes 		phenotype Finding 60 4 0.100 None 0
CUI: C0423867
Disease: Fine hair
Fine hair 		phenotype Finding 69 1 0.100 None 0
CUI: C0853087
Disease: Nail abnormality
Nail abnormality 		phenotype Pathological Conditions, Signs and Symptoms Anatomical Abnormality 67 11 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
CUI: C0086543
Disease: Cataract
Cataract 		disease Eye Diseases Acquired Abnormality 878 124 0.100 None 0
CUI: C0041834
Disease: Erythema
Erythema 		phenotype Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 227 8 0.100 None 0
CUI: C4282407
Disease: Sparse and thin eyebrow
Sparse and thin eyebrow 		phenotype Finding 68 8 0.100 None 0
CUI: C4011556
Disease: Abnormal eyebrow morphology
Abnormal eyebrow morphology 		group Anatomical Abnormality 29 1 0.100 None 0
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 2165 159 0.100 None 0
CUI: C2675111
Disease: Abnormal eyelash morphology
Abnormal eyelash morphology 		phenotype Finding 39 0.100 None 0
CUI: C1873509
Disease: Hypotrichosis of the scalp
Hypotrichosis of the scalp 		phenotype Finding 12 1 0.100 None 0
CUI: C1862863
Disease: Sparse body hair
Sparse body hair 		phenotype Finding 57 0.100 None 0
CUI: C0033774
Disease: Pruritus
Pruritus 		phenotype Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Finding 107 2 0.100 None 0
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		disease Mental Disorders Mental or Behavioral Dysfunction 2872 2897 0.100 None 0
CUI: C1862862
Disease: Patchy alopecia
Patchy alopecia 		phenotype Skin and Connective Tissue Diseases Finding 8 0.100 None 0
CUI: C1832348
Disease: Slow-growing hair
Slow-growing hair 		phenotype Finding 35 1 0.100 None 0
CUI: C1836672
Disease: Total Hypotrichosis, Mari type
Total Hypotrichosis, Mari type 		disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 27 4 0.060 None 0.833 6 1 2006 2015