CRMP1, collapsin response mediator protein 1, 1400

N. diseases: 148; N. variants: 42
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: C1854912
Disease: Short long bone
Short long bone
phenotype Finding 42 19 0.100 None 0 1
CUI: C0024507
Disease: Majewski Syndrome
Majewski Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 20 31 0.100 None 0 2
CUI: C0025990
Disease: Micrognathism
Micrognathism
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality 586 53 0.100 None 0 1
CUI: C1837482
Disease: Thoracic hypoplasia
Thoracic hypoplasia
disease Congenital Abnormality 32 16 0.100 None 0 1
CUI: C0152427
Disease: Polydactyly
Polydactyly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 188 43 0.100 None 0 1
CUI: C0423109
Disease: Upward slant of palpebral fissure
Upward slant of palpebral fissure
phenotype Finding 216 16 0.100 None 0 1
CUI: C0426817
Disease: Short ribs
Short ribs
phenotype Finding 60 27 0.100 None 0 1
CUI: C0424731
Disease: Single transverse palmar crease
Single transverse palmar crease
phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities Finding 78 14 0.100 None 0 1
CUI: C0240912
Disease: Vertical Talus
Vertical Talus
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 69 20 0.100 None 0 1
Aplasia/Hypoplasia involving the pelvis
phenotype Finding 8 13 0.100 None 0 1
CUI: C0265660
Disease: Syndactyly of the toes
Syndactyly of the toes
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 129 11 0.100 None 0 1
CUI: C0239234
Disease: Low set ears
Low set ears
disease Congenital Abnormality 489 64 0.100 None 0 1
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
phenotype Neoplastic Process 6626 169 0.100 None 1.000 14 2001 2018
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
disease Nervous System Diseases; Mental Disorders Disease or Syndrome 3397 1843 0.100 None 1.000 12 2009 2020
CUI: C0027651
Disease: Neoplasms
Neoplasms
group Neoplasms Neoplastic Process 10161 1644 0.100 None 1.000 11 2007 2019
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
disease Nervous System Diseases Disease or Syndrome 2078 990 0.090 None 1.000 9 2010 2020
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
group Neoplasms Neoplastic Process 8221 1374 0.080 None 1.000 8 2001 2019
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
group Neoplasms Neoplastic Process 8621 1641 0.080 None 1.000 8 2001 2019
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders
group Nervous System Diseases Disease or Syndrome 1515 85 0.070 None 1.000 7 2013 2020
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 6385 327 0.070 None 1.000 7 2001 2019
CUI: C0013903
Disease: Ellis-Van Creveld Syndrome
Ellis-Van Creveld Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome 11 121 0.100 None 1.000 7 39 2000 2018
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6941 3417 0.060 None 1.000 6 2014 2019
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung
disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 3894 981 0.060 None 1.000 6 2001 2019
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma
disease Neoplasms; Nervous System Diseases Neoplastic Process 2419 231 0.060 None 1.000 6 2013 2020
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6776 2793 0.060 None 1.000 6 2014 2019