CNTNAP1, contactin associated protein 1, 8506

N. diseases: 166; N. variants: 16
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.
Abnormality of subcutaneous fat tissue
phenotype Anatomical Abnormality 4 1 0.100 None 1.000 1 1 2017 2017
CUI: C1856660
Disease: Abnormality of the helix
Abnormality of the helix
phenotype Finding 21 2 0.100 None 1.000 1 1 2017 2017
Absence of stomach bubble on fetal sonography
phenotype Finding 1 1 0.100 None 1.000 1 1 2017 2017
CUI: C0234146
Disease: Absent reflex
Absent reflex
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 201 16 0.100 None 0
CUI: C0085669
Disease: Acute leukemia
Acute leukemia
disease Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 639 50 0.030 None 1.000 3 1989 1992
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia
disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 1293 222 0.100 None 1.000 11 1989 2019
CUI: C0023465
Disease: Acute monocytic leukemia
Acute monocytic leukemia
disease Neoplasms Neoplastic Process 633 22 0.010 None 1.000 1 1997 1997
CUI: C0023487
Disease: Acute Promyelocytic Leukemia
Acute Promyelocytic Leukemia
disease Neoplasms Neoplastic Process 651 21 0.010 None 1.000 1 1993 1993
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
group Neoplasms Neoplastic Process 2235 168 0.010 None 1.000 1 1993 1993
CUI: C0751606
Disease: Adult Acute Lymphocytic Leukemia
Adult Acute Lymphocytic Leukemia
disease Neoplastic Process 860 154 0.070 None 1.000 7 1990 2019
CUI: C1332206
Disease: Adult Lymphoma
Adult Lymphoma
disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 1169 66 0.010 None 1.000 1 2000 2000
CUI: C3900098
Disease: Adult Myelodysplastic Syndrome
Adult Myelodysplastic Syndrome
disease Hemic and Lymphatic Diseases Neoplastic Process 332 20 0.010 None 1.000 1 1996 1996
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril
phenotype Finding 407 35 0.100 None 1.000 1 1 2017 2017
CUI: C0003175
Disease: Anthrax disease
Anthrax disease
disease Infections Disease or Syndrome 66 3 0.010 None 1.000 1 2018 2018
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 198 33 0.140 None 1.000 4 1 2014 2018
CUI: C0220662
Disease: ARTHROGRYPOSIS, DISTAL, TYPE 1
ARTHROGRYPOSIS, DISTAL, TYPE 1
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome; Congenital Abnormality 9 10 0.100 None 0 1
CUI: C0431370
Disease: Atrophy of corpus callosum
Atrophy of corpus callosum
disease Nervous System Diseases Disease or Syndrome 21 2 0.100 None 1.000 1 1 2017 2017
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
disease Mental Disorders Mental or Behavioral Dysfunction 1112 395 0.010 None 1.000 1 2011 2011
B Acute Lymphoblastic Leukemia with t(9;22)(q34.1;q11.2); BCR-ABL1
disease Neoplastic Process 83 11 0.080 None 1.000 8 1991 2005
CUI: C0034935
Disease: Babinski Reflex
Babinski Reflex
phenotype Finding 218 11 0.100 None 0
CUI: C0005699
Disease: Blast Phase
Blast Phase
disease Pathological Conditions, Signs and Symptoms; Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process 299 14 0.080 None 0.750 8 1987 2011
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis
disease Eye Diseases Disease or Syndrome 595 57 0.100 None 1.000 1 1 2017 2017
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6776 2793 0.100 None 1.000 1 1 2017 2017
CUI: C1856121
Disease: Broad eyebrow
Broad eyebrow
phenotype Finding 11 4 0.100 None 1.000 1 1 2017 2017
CUI: C4082299
Disease: Bulbar palsy
Bulbar palsy
disease Nervous System Diseases Disease or Syndrome 48 5 0.100 None 1.000 1 1 2017 2017