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Table 3 Phenotypically enriched locus overlapping with phenotypically similar known genomic syndromes

From: Systematic identification of phenotypically enriched loci using a patient network of genomic disorders

PEL ID Type* Chr Start Length (Kb) Phenotype Cases/Carrier (DGV) P valuea P b MIMc
PEL 240 d 1 243981716 12.547 Abnormality of the skull 13/18 (0) 4.50E-08 100 217990
PEL 193 d 1 243786018 126.15 Abnormality of the skull 14/19 (0) 1.30E-08 100 217990
PEL 68 d 1 243981716 12.547 Microcephaly 12/18 (0) 7.40E-11 100 217990
PEL 49 d 1 243786018 126.15 Microcephaly 13/19 (0) 9.20E-12 100 217990
PEL 25 d 1 243981716 12.547 Aplasia/Hypoplasia of the cerebrum 15/18 (0) 1.80E-12 100 217990
PEL 15 d 1 243786018 126.15 Aplasia/Hypoplasia of the cerebrum 16/19 (0) 3.80E-13 100 217990
PEL 70 d 11 31802605 23.093 Aplasia/Hypoplasia affecting the eye 5/8 (0) 1.00E-08 100 106210
PEL 317 d 14 55242483 200.932 Abnormality of the eye 6/6 (0) 1.80E-04 100 248000
PEL 295 d 4 82082415 31.542 Growth abnormality 9/11 (0) 4.20E-06 100 601665
PEL 484 d 6 407031 170.484 Abnormality of the ocular region 10/16 (1) 4.10E-06 30.2 145400
PEL 484 d 6 407031 170.484 Abnormality of the ocular region 10/16 (1) 4.10E-06 30.2 187350
PEL 347 d 6 1612710 15.026 Abnormality of the ocular region 11/17 (0) 1.60E-07 100 145400
PEL 347 d 6 1612710 15.026 Abnormality of the ocular region 11/17 (0) 1.60E-07 100 187350
PEL 156 d 6 407031 170.484 Abnormality of globe location 9/16 (1) 7.90E-08 28 145400
PEL 100 d 6 2371534 63.584 Hypertelorism 8/13 (1) 2.80E-08 25.7 145400
PEL 88 d 6 1612710 357.639 Hypertelorism 9/16 (1) 3.00E-09 28 145400
PEL 58 d 6 1612710 22.698 Hypertelorism 10/17 (0) 3.40E-11 100 145400
PEL 22 d 8 11610366 83.076 Malformation of the heart and great vessels 15/21 (0) 1.00E-13 100 265500
PEL 6 d 8 11610366 83.076 Abnormality of the cardiovascular system 18/21 (0) 8.00E-15 100 265500
PEL 7 d 8 11610366 83.076 Abnormality of cardiac morphology 17/21 (0) 6.40E-15 100 265500
PEL 452 d X 102585912 9.472 Abnormality of digit 6/8 (0) 3.50E-05 100 108110
  1. * Duplication (D) and deletion (d). a Adjusted P-values from the Fisher’s Exact test of the case–control analysis. b P is the penetrance, this table show only those PELs with a penetrance higher than 25 %. The penetrance was calculated as described by Cooper et al. [8, 28]. c OMIM genomic disorders from ClinVar showing phenotypes that were similar to those found in the respective PEL