TCHH, trichohyalin, 7062

N. diseases: 23; N. variants: 2
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: C0432347
Disease: Uncombable hair syndrome
Uncombable hair syndrome
disease Skin and Connective Tissue Diseases Disease or Syndrome 5 0.310 None 1.000 1 2016 2016
CUI: C0011615
Disease: Dermatitis, Atopic
Dermatitis, Atopic
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome 751 232 0.100 None 1.000 1 1 2013 2013
CUI: C0558165
Disease: Curly hair (finding)
Curly hair (finding)
phenotype Finding 24 7 0.100 None 0
CUI: C1860607
Disease: Uncombable hair
Uncombable hair
phenotype Finding 5 0.100 None 0
CUI: C1860608
Disease: Pili canaliculi
Pili canaliculi
phenotype Finding 6 0.100 None 0
CUI: C4310648
Disease: UNCOMBABLE HAIR SYNDROME 3
UNCOMBABLE HAIR SYNDROME 3
disease Disease or Syndrome 1 1 0.100 None 0 1
CUI: C0024299
Disease: Lymphoma
Lymphoma
group Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 1548 91 0.020 None 1.000 2 2013 2015
CUI: C4330265
Disease: Triple hit lymphoma
Triple hit lymphoma
disease Neoplastic Process 7 0.020 None 1.000 2 2016 2018
CUI: C2698045
Disease: Merkel Cell Polyomavirus Infection
Merkel Cell Polyomavirus Infection
disease Infections Disease or Syndrome 11 0.010 None 1.000 1 1996 1996
CUI: C3267126
Disease: Trichodysplasia spinulosa
Trichodysplasia spinulosa
disease Disease or Syndrome 9 0.010 None < 0.001 1 2014 2014
CUI: C0456863
Disease: High grade B-cell lymphoma
High grade B-cell lymphoma
disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 14 0.010 None 1.000 1 2018 2018
CUI: C0334262
Disease: Trichofolliculoma
Trichofolliculoma
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 1 0.010 None 1.000 1 1996 1996
CUI: C0206711
Disease: Pilomatrixoma
Pilomatrixoma
disease Neoplasms Neoplastic Process 24 14 0.010 None 1.000 1 1996 1996
CUI: C0015672
Disease: Fatigue
Fatigue
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 760 67 0.010 None 1.000 1 2020 2020
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus
disease Nervous System Diseases Disease or Syndrome 473 37 0.010 None 1.000 1 2018 2018
CUI: C0026393
Disease: Molluscum Contagiosum
Molluscum Contagiosum
disease Infections; Skin and Connective Tissue Diseases Disease or Syndrome 18 0.010 None 1.000 1 1996 1996
CUI: C0027651
Disease: Neoplasms
Neoplasms
group Neoplasms Neoplastic Process 10161 1644 0.010 None 1.000 1 2018 2018
CUI: C0032461
Disease: Polycythemia
Polycythemia
disease Hemic and Lymphatic Diseases Disease or Syndrome 82 22 0.010 None 1.000 1 2020 2020
CUI: C0037274
Disease: Dermatologic disorders
Dermatologic disorders
group Skin and Connective Tissue Diseases Disease or Syndrome 617 21 0.010 None 1.000 1 1996 1996
CUI: C0037286
Disease: Skin Neoplasms
Skin Neoplasms
group Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 363 9 0.010 None 1.000 1 1996 1996
CUI: C0079731
Disease: B-Cell Lymphomas
B-Cell Lymphomas
group Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 1408 42 0.010 None 1.000 1 2013 2013
CUI: C0205748
Disease: Dysplastic Nevus
Dysplastic Nevus
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms Neoplastic Process 104 7 0.010 None 1.000 1 2016 2016
High-grade B-cell lymphoma, with MYC and BCL2 and/or BCL6 rearrangements
disease Neoplastic Process 3 0.010 None 1.000 1 2018 2018