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.
CUI: C1709527
Disease: B Acute Lymphoblastic Leukemia with t(9;22)(q34.1;q11.2); BCR-ABL1
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: C0751606
Disease: Adult Acute Lymphocytic Leukemia
Adult Acute Lymphocytic Leukemia 		disease Neoplastic Process 860 154 0.070 None 1.000 7 1990 2019
CUI: C4225386
Disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 7
LETHAL CONGENITAL CONTRACTURE SYNDROME 7 		disease Disease or Syndrome 1 7 0.700 None 1.000 5 7 2014 2017
CUI: C4748608
Disease: NEUROPATHY, CONGENITAL HYPOMYELINATING, 3
NEUROPATHY, CONGENITAL HYPOMYELINATING, 3 		disease Disease or Syndrome 4 13 0.600 None 1.000 4 7 2016 2018
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		disease Disease or Syndrome 321 67 0.110 None 1.000 2 2 2017 2017
CUI: C0221358
Disease: Long narrow head
Long narrow head 		disease Congenital Abnormality 154 26 0.100 None 1.000 1 1 2017 2017
CUI: C0239234
Disease: Low set ears
Low set ears 		disease Congenital Abnormality 489 64 0.100 None 1.000 1 1 2017 2017
CUI: C0239676
Disease: High forehead
High forehead 		phenotype Finding 211 17 0.100 None 1.000 1 1 2017 2017
CUI: C0239815
Disease: Hand clenching
Hand clenching 		phenotype Finding 26 9 0.100 None 1.000 1 1 2017 2017
CUI: C0332615
Disease: Myopathic facies
Myopathic facies 		phenotype Finding 44 15 0.100 None 1.000 1 1 2017 2017
CUI: C0349636
Disease: Pre B-cell acute lymphoblastic leukemia
Pre B-cell acute lymphoblastic leukemia 		disease Neoplastic Process 90 5 0.010 None 1.000 1 1993 1993
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		phenotype Finding 391 49 0.100 None 1.000 1 1 2017 2017
CUI: C0742028
Disease: Cerebellar vermis atrophy
Cerebellar vermis atrophy 		phenotype Finding 32 6 0.100 None 1.000 1 1 2017 2017
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		phenotype Neoplastic Process 6626 169 0.010 None 1.000 1 2006 2006
CUI: C1378511
Disease: Undifferentiated leukemia
Undifferentiated leukemia 		disease Neoplastic Process 120 2 0.010 None 1.000 1 1991 1991
CUI: C1739405
Disease: CML progression
CML progression 		disease Neoplastic Process 47 3 0.010 None 1.000 1 2009 2009
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		phenotype Finding 426 39 0.100 None 1.000 1 1 2017 2017
CUI: C1837142
Disease: Poor suck
Poor suck 		phenotype Finding 103 31 0.100 None 1.000 1 1 2017 2017
CUI: C1837404
Disease: High, narrow palate
High, narrow palate 		phenotype Finding 129 21 0.100 None 1.000 1 1 2017 2017
CUI: C1839758
Disease: Narrow forehead
Narrow forehead 		phenotype Finding 106 20 0.100 None 1.000 1 1 2017 2017
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		phenotype Finding 407 35 0.100 None 1.000 1 1 2017 2017
CUI: C1847906
Disease: Onion bulb formation
Onion bulb formation 		phenotype Finding 28 1 0.100 None 1.000 1 1 2017 2017
CUI: C1850069
Disease: Undetectable visual evoked potentials
Undetectable visual evoked potentials 		phenotype Finding 6 1 0.100 None 1.000 1 1 2017 2017
CUI: C1854114
Disease: Short nose
Short nose 		phenotype Finding 265 23 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