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LitCoin-sentences

Id Subject Object Predicate Lexical cue
T1 0-115 Sentence denotes A two base pair deletion in the PQBP1 gene is associated with microphthalmia, microcephaly, and mental retardation.
T2 116-387 Sentence denotes X-linked mental retardation has been traditionally divided into syndromic (S-XLMR) and non-syndromic forms (NS-XLMR), although the borderlines between these phenotypes begin to vanish and mutations in a single gene, for example PQBP1, can cause S-XLMR as well as NS-XLMR.
T3 388-580 Sentence denotes Here, we report two maternal cousins with an apparently X-linked phenotype of mental retardation (MR), microphthalmia, choroid coloboma, microcephaly, renal hypoplasia, and spastic paraplegia.
T4 581-755 Sentence denotes By multipoint linkage analysis with markers spanning the entire X-chromosome we mapped the disease locus to a 28-Mb interval between Xp11.4 and Xq12, including the BCOR gene.
T5 756-937 Sentence denotes A missense mutation in BCOR was described in a family with Lenz microphthalmia syndrome, a phenotype showing substantial overlapping features with that described in the two cousins.
T6 938-1003 Sentence denotes However, no mutation in the BCOR gene was found in both patients.
T7 1004-1179 Sentence denotes Subsequent mutation analysis of PQBP1, located within the delineated linkage interval in Xp11.23, revealed a 2-bp deletion, c.461_462delAG, that cosegregated with the disease.
T8 1180-1290 Sentence denotes Notably, the same mutation is associated with the Hamel cerebropalatocardiac syndrome, another form of S-XLMR.
T9 1291-1418 Sentence denotes Haplotype analysis suggests a germline mosaicism of the 2-bp deletion in the maternal grandmother of both affected individuals.
T10 1419-1659 Sentence denotes In summary, our findings demonstrate for the first time that mutations in PQBP1 are associated with an S-XLMR phenotype including microphthalmia, thereby further extending the clinical spectrum of phenotypes associated with PQBP1 mutations.

LitCoin-entities

Id Subject Object Predicate Lexical cue db_id
3446 32-37 GeneOrGeneProduct denotes PQBP1 NCBIGene:10084
3447 62-76 DiseaseOrPhenotypicFeature denotes microphthalmia MESH:D008850
3448 78-90 DiseaseOrPhenotypicFeature denotes microcephaly MESH:D008831
3449 96-114 DiseaseOrPhenotypicFeature denotes mental retardation MESH:D008607
3450 116-143 DiseaseOrPhenotypicFeature denotes X-linked mental retardation MESH:D038901
3451 193-197 DiseaseOrPhenotypicFeature denotes XLMR MESH:D038901
3452 227-231 DiseaseOrPhenotypicFeature denotes XLMR MESH:D038901
3453 344-349 GeneOrGeneProduct denotes PQBP1 NCBIGene:10084
3454 363-367 DiseaseOrPhenotypicFeature denotes XLMR MESH:D038901
3455 382-386 DiseaseOrPhenotypicFeature denotes XLMR MESH:D038901
3456 444-484 DiseaseOrPhenotypicFeature denotes X-linked phenotype of mental retardation MESH:D038901
3457 486-488 DiseaseOrPhenotypicFeature denotes MR MESH:D008607
3458 491-505 DiseaseOrPhenotypicFeature denotes microphthalmia MESH:D008850
3459 507-523 DiseaseOrPhenotypicFeature denotes choroid coloboma MESH:D003103
3460 525-537 DiseaseOrPhenotypicFeature denotes microcephaly MESH:D008831
3461 539-555 DiseaseOrPhenotypicFeature denotes renal hypoplasia MESH:D007674
3462 561-579 DiseaseOrPhenotypicFeature denotes spastic paraplegia MESH:D010264
3463 745-749 GeneOrGeneProduct denotes BCOR NCBIGene:54880
3464 779-783 GeneOrGeneProduct denotes BCOR NCBIGene:54880
3465 815-843 DiseaseOrPhenotypicFeature denotes Lenz microphthalmia syndrome MESH:C537464
3466 966-970 GeneOrGeneProduct denotes BCOR NCBIGene:54880
3467 994-1002 OrganismTaxon denotes patients NCBITaxon:9606
3468 1036-1041 GeneOrGeneProduct denotes PQBP1 NCBIGene:10084
3469 1128-1142 SequenceVariant denotes c.461_462delAG DBSNP:rs606231195
3470 1230-1265 DiseaseOrPhenotypicFeature denotes Hamel cerebropalatocardiac syndrome MESH:C537761
3471 1285-1289 DiseaseOrPhenotypicFeature denotes XLMR MESH:D038901
3472 1493-1498 GeneOrGeneProduct denotes PQBP1 NCBIGene:10084
3473 1524-1528 DiseaseOrPhenotypicFeature denotes XLMR MESH:D038901
3474 1549-1563 DiseaseOrPhenotypicFeature denotes microphthalmia MESH:D008850
3475 1643-1648 GeneOrGeneProduct denotes PQBP1 NCBIGene:10084

LitCoin_Mondo

Id Subject Object Predicate Lexical cue mondo_id
T1 62-76 DiseaseOrPhenotypicFeature denotes microphthalmia 0021129
T2 78-90 DiseaseOrPhenotypicFeature denotes microcephaly 0001149
T3 491-505 DiseaseOrPhenotypicFeature denotes microphthalmia 0021129
T4 507-514 DiseaseOrPhenotypicFeature denotes choroid 0001280
T5 515-523 DiseaseOrPhenotypicFeature denotes coloboma 0001476
T6 525-537 DiseaseOrPhenotypicFeature denotes microcephaly 0001149
T7 539-555 DiseaseOrPhenotypicFeature denotes renal hypoplasia 0019637
T8 569-579 DiseaseOrPhenotypicFeature denotes paraplegia 0003757
T9 820-834 DiseaseOrPhenotypicFeature denotes microphthalmia 0021129
T10 1230-1265 DiseaseOrPhenotypicFeature denotes Hamel cerebropalatocardiac syndrome 0019767
T11 1330-1339 DiseaseOrPhenotypicFeature denotes mosaicism 0700062
T12 1549-1563 DiseaseOrPhenotypicFeature denotes microphthalmia 0021129

LitCoin-SeqVar

Id Subject Object Predicate Lexical cue
T1 1113-1126 SequenceVariant denotes 2-bp deletion
T2 1128-1142 SequenceVariant denotes c.461_462delAG
T3 1347-1360 SequenceVariant denotes 2-bp deletion

LitCoin-GeneOrGeneProduct-v0

Id Subject Object Predicate Lexical cue
T1 6-10 GeneOrGeneProduct denotes base
T2 11-15 GeneOrGeneProduct denotes pair
T3 32-37 GeneOrGeneProduct denotes PQBP1
T4 62-76 GeneOrGeneProduct denotes microphthalmia
T5 116-124 GeneOrGeneProduct denotes X-linked
T6 180-189 GeneOrGeneProduct denotes syndromic
T7 193-197 GeneOrGeneProduct denotes XLMR
T8 207-216 GeneOrGeneProduct denotes syndromic
T9 227-231 GeneOrGeneProduct denotes XLMR
T10 284-289 GeneOrGeneProduct denotes begin
T11 304-313 GeneOrGeneProduct denotes mutations
T12 344-349 GeneOrGeneProduct denotes PQBP1
T13 363-367 GeneOrGeneProduct denotes XLMR
T14 382-386 GeneOrGeneProduct denotes XLMR
T15 444-452 GeneOrGeneProduct denotes X-linked
T16 491-505 GeneOrGeneProduct denotes microphthalmia
T17 561-568 GeneOrGeneProduct denotes spastic
T18 625-633 GeneOrGeneProduct denotes spanning
T19 638-644 GeneOrGeneProduct denotes entire
T20 645-657 GeneOrGeneProduct denotes X-chromosome
T21 694-696 GeneOrGeneProduct denotes Mb
T22 745-749 GeneOrGeneProduct denotes BCOR
T23 758-766 GeneOrGeneProduct denotes missense
T24 767-775 GeneOrGeneProduct denotes mutation
T25 779-783 GeneOrGeneProduct denotes BCOR
T26 798-802 GeneOrGeneProduct denotes in a
T27 820-834 GeneOrGeneProduct denotes microphthalmia
T28 835-843 GeneOrGeneProduct denotes syndrome
T29 947-958 GeneOrGeneProduct denotes no mutation
T30 966-970 GeneOrGeneProduct denotes BCOR
T31 1015-1023 GeneOrGeneProduct denotes mutation
T32 1036-1041 GeneOrGeneProduct denotes PQBP1
T33 1111-1117 GeneOrGeneProduct denotes a 2-bp
T34 1198-1206 GeneOrGeneProduct denotes mutation
T35 1257-1265 GeneOrGeneProduct denotes syndrome
T36 1285-1289 GeneOrGeneProduct denotes XLMR
T37 1330-1339 GeneOrGeneProduct denotes mosaicism
T38 1435-1443 GeneOrGeneProduct denotes findings
T39 1470-1474 GeneOrGeneProduct denotes time
T40 1475-1489 GeneOrGeneProduct denotes that mutations
T41 1493-1498 GeneOrGeneProduct denotes PQBP1
T42 1524-1528 GeneOrGeneProduct denotes XLMR
T43 1549-1563 GeneOrGeneProduct denotes microphthalmia
T44 1581-1590 GeneOrGeneProduct denotes extending
T45 1643-1648 GeneOrGeneProduct denotes PQBP1
T46 1649-1658 GeneOrGeneProduct denotes mutations

LitCoin-GeneOrGeneProduct-v2

Id Subject Object Predicate Lexical cue
T1 32-37 GeneOrGeneProduct denotes PQBP1
T2 62-76 GeneOrGeneProduct denotes microphthalmia
T3 116-124 GeneOrGeneProduct denotes X-linked
T4 193-197 GeneOrGeneProduct denotes XLMR
T5 227-231 GeneOrGeneProduct denotes XLMR
T6 344-349 GeneOrGeneProduct denotes PQBP1
T7 363-367 GeneOrGeneProduct denotes XLMR
T8 382-386 GeneOrGeneProduct denotes XLMR
T9 444-452 GeneOrGeneProduct denotes X-linked
T10 491-505 GeneOrGeneProduct denotes microphthalmia
T11 561-568 GeneOrGeneProduct denotes spastic
T12 645-657 GeneOrGeneProduct denotes X-chromosome
T13 745-749 GeneOrGeneProduct denotes BCOR
T14 779-783 GeneOrGeneProduct denotes BCOR
T15 820-834 GeneOrGeneProduct denotes microphthalmia
T16 835-843 GeneOrGeneProduct denotes syndrome
T17 966-970 GeneOrGeneProduct denotes BCOR
T18 1036-1041 GeneOrGeneProduct denotes PQBP1
T19 1257-1265 GeneOrGeneProduct denotes syndrome
T20 1285-1289 GeneOrGeneProduct denotes XLMR
T21 1493-1498 GeneOrGeneProduct denotes PQBP1
T22 1524-1528 GeneOrGeneProduct denotes XLMR
T23 1549-1563 GeneOrGeneProduct denotes microphthalmia
T24 1643-1648 GeneOrGeneProduct denotes PQBP1

LitCoin-Disease-MeSH

Id Subject Object Predicate Lexical cue originalLabel
T1 62-76 DiseaseOrPhenotypicFeature denotes microphthalmia D008850
T2 78-90 DiseaseOrPhenotypicFeature denotes microcephaly D008831
T3 96-114 DiseaseOrPhenotypicFeature denotes mental retardation D008607
T4 116-143 DiseaseOrPhenotypicFeature denotes X-linked mental retardation D038901
T5 180-189 DiseaseOrPhenotypicFeature denotes syndromic D013577
T6 207-216 DiseaseOrPhenotypicFeature denotes syndromic D013577
T7 466-484 DiseaseOrPhenotypicFeature denotes mental retardation D008607
T8 486-488 DiseaseOrPhenotypicFeature denotes MR D008607
T9 491-505 DiseaseOrPhenotypicFeature denotes microphthalmia D008850
T10 515-523 DiseaseOrPhenotypicFeature denotes coloboma D003103
T11 525-537 DiseaseOrPhenotypicFeature denotes microcephaly D008831
T12 561-579 DiseaseOrPhenotypicFeature denotes spastic paraplegia D010264
T13 672-679 DiseaseOrPhenotypicFeature denotes disease D004194
T14 815-843 DiseaseOrPhenotypicFeature denotes Lenz microphthalmia syndrome C537464
T15 1171-1178 DiseaseOrPhenotypicFeature denotes disease D004194
T16 1230-1265 DiseaseOrPhenotypicFeature denotes Hamel cerebropalatocardiac syndrome C537761
T17 1549-1563 DiseaseOrPhenotypicFeature denotes microphthalmia D008850

LitCoin-GeneOrGeneProduct-v3

Id Subject Object Predicate Lexical cue
T1 32-37 GeneOrGeneProduct denotes PQBP1
T2 344-349 GeneOrGeneProduct denotes PQBP1
T3 645-657 GeneOrGeneProduct denotes X-chromosome
T4 745-749 GeneOrGeneProduct denotes BCOR
T5 779-783 GeneOrGeneProduct denotes BCOR
T6 966-970 GeneOrGeneProduct denotes BCOR
T7 1036-1041 GeneOrGeneProduct denotes PQBP1
T8 1493-1498 GeneOrGeneProduct denotes PQBP1
T9 1643-1648 GeneOrGeneProduct denotes PQBP1

LitCoin_Mondo_095

Id Subject Object Predicate Lexical cue mondo_id
T1 62-76 DiseaseOrPhenotypicFeature denotes microphthalmia 0021129
T2 78-90 DiseaseOrPhenotypicFeature denotes microcephaly 0001149
T3 96-114 DiseaseOrPhenotypicFeature denotes mental retardation 0001071
T4 125-143 DiseaseOrPhenotypicFeature denotes mental retardation 0001071
T5 224-226 DiseaseOrPhenotypicFeature denotes NS 0009735
T6 351-354 DiseaseOrPhenotypicFeature denotes can 0012833
T7 379-381 DiseaseOrPhenotypicFeature denotes NS 0009735
T8 466-484 DiseaseOrPhenotypicFeature denotes mental retardation 0001071
T9 486-488 DiseaseOrPhenotypicFeature denotes MR 0001071
T10 491-505 DiseaseOrPhenotypicFeature denotes microphthalmia 0021129
T11 515-523 DiseaseOrPhenotypicFeature denotes coloboma 0001476
T12 525-537 DiseaseOrPhenotypicFeature denotes microcephaly 0001149
T13 539-555 DiseaseOrPhenotypicFeature denotes renal hypoplasia 0019637
T14 561-579 DiseaseOrPhenotypicFeature denotes spastic paraplegia 0019064
T15 815-843 DiseaseOrPhenotypicFeature denotes Lenz microphthalmia syndrome 0010671
T16 1230-1265 DiseaseOrPhenotypicFeature denotes Hamel cerebropalatocardiac syndrome 0019767
T17 1549-1563 DiseaseOrPhenotypicFeature denotes microphthalmia 0021129

LitCoin-MeSH-Disease-2

Id Subject Object Predicate Lexical cue ID:
T1 62-76 DiseaseOrPhenotypicFeature denotes microphthalmia D008850
T2 78-90 DiseaseOrPhenotypicFeature denotes microcephaly D008831
T3 96-114 DiseaseOrPhenotypicFeature denotes mental retardation D008607
T4 116-143 DiseaseOrPhenotypicFeature denotes X-linked mental retardation D038901
T5 193-197 DiseaseOrPhenotypicFeature denotes XLMR DISEASE
T6 227-231 DiseaseOrPhenotypicFeature denotes XLMR DISEASE
T7 363-367 DiseaseOrPhenotypicFeature denotes XLMR DISEASE
T8 382-386 DiseaseOrPhenotypicFeature denotes XLMR DISEASE
T9 444-484 DiseaseOrPhenotypicFeature denotes X-linked phenotype of mental retardation DISEASE
T10 486-488 DiseaseOrPhenotypicFeature denotes MR D008607
T11 491-505 DiseaseOrPhenotypicFeature denotes microphthalmia D008850
T12 515-523 DiseaseOrPhenotypicFeature denotes coloboma D003103
T13 525-537 DiseaseOrPhenotypicFeature denotes microcephaly D008831
T14 539-555 DiseaseOrPhenotypicFeature denotes renal hypoplasia DISEASE
T15 561-579 DiseaseOrPhenotypicFeature denotes spastic paraplegia D010264
T16 672-679 DiseaseOrPhenotypicFeature denotes disease D004194
T17 815-843 DiseaseOrPhenotypicFeature denotes Lenz microphthalmia syndrome C537464
T18 1171-1178 DiseaseOrPhenotypicFeature denotes disease D004194
T19 1230-1265 DiseaseOrPhenotypicFeature denotes Hamel cerebropalatocardiac syndrome C537761
T20 1285-1289 DiseaseOrPhenotypicFeature denotes XLMR DISEASE
T21 1524-1528 DiseaseOrPhenotypicFeature denotes XLMR DISEASE
T22 1549-1563 DiseaseOrPhenotypicFeature denotes microphthalmia D008850

LitCoin-MONDO_bioort2019

Id Subject Object Predicate Lexical cue #label
T1 62-76 DiseaseOrPhenotypicFeature denotes microphthalmia D008850
T2 78-90 DiseaseOrPhenotypicFeature denotes microcephaly D008831
T3 96-114 DiseaseOrPhenotypicFeature denotes mental retardation D008607
T4 116-143 DiseaseOrPhenotypicFeature denotes X-linked mental retardation D038901
T5 193-197 DiseaseOrPhenotypicFeature denotes XLMR DISEASE
T6 227-231 DiseaseOrPhenotypicFeature denotes XLMR DISEASE
T7 363-367 DiseaseOrPhenotypicFeature denotes XLMR DISEASE
T8 382-386 DiseaseOrPhenotypicFeature denotes XLMR DISEASE
T9 444-484 DiseaseOrPhenotypicFeature denotes X-linked phenotype of mental retardation DISEASE
T10 486-488 DiseaseOrPhenotypicFeature denotes MR D008607
T11 491-505 DiseaseOrPhenotypicFeature denotes microphthalmia D008850
T12 515-523 DiseaseOrPhenotypicFeature denotes coloboma D003103
T13 525-537 DiseaseOrPhenotypicFeature denotes microcephaly D008831
T14 539-555 DiseaseOrPhenotypicFeature denotes renal hypoplasia DISEASE
T15 561-579 DiseaseOrPhenotypicFeature denotes spastic paraplegia D010264
T16 815-843 DiseaseOrPhenotypicFeature denotes Lenz microphthalmia syndrome C537464
T17 1230-1265 DiseaseOrPhenotypicFeature denotes Hamel cerebropalatocardiac syndrome C537761
T18 1285-1289 DiseaseOrPhenotypicFeature denotes XLMR DISEASE
T19 1524-1528 DiseaseOrPhenotypicFeature denotes XLMR DISEASE
T20 1549-1563 DiseaseOrPhenotypicFeature denotes microphthalmia D008850

LitCoin-NCBITaxon-2

Id Subject Object Predicate Lexical cue
T1 994-1002 OrganismTaxon denotes patients

LitCoin-training-merged

Id Subject Object Predicate Lexical cue #label
T9 1643-1648 GeneOrGeneProduct denotes PQBP1
T8 1493-1498 GeneOrGeneProduct denotes PQBP1
T7 1036-1041 GeneOrGeneProduct denotes PQBP1
T6 966-970 GeneOrGeneProduct denotes BCOR
T5 779-783 GeneOrGeneProduct denotes BCOR
T4 745-749 GeneOrGeneProduct denotes BCOR
T3 645-657 GeneOrGeneProduct denotes X-chromosome
T2 344-349 GeneOrGeneProduct denotes PQBP1
T1 32-37 GeneOrGeneProduct denotes PQBP1
T20 1549-1563 DiseaseOrPhenotypicFeature denotes microphthalmia D008850
T19 1524-1528 DiseaseOrPhenotypicFeature denotes XLMR DISEASE
T18 1285-1289 DiseaseOrPhenotypicFeature denotes XLMR DISEASE
T17 1230-1265 DiseaseOrPhenotypicFeature denotes Hamel cerebropalatocardiac syndrome C537761
T16 815-843 DiseaseOrPhenotypicFeature denotes Lenz microphthalmia syndrome C537464
T15 561-579 DiseaseOrPhenotypicFeature denotes spastic paraplegia D010264
T14 539-555 DiseaseOrPhenotypicFeature denotes renal hypoplasia DISEASE
T13 525-537 DiseaseOrPhenotypicFeature denotes microcephaly D008831
T12 515-523 DiseaseOrPhenotypicFeature denotes coloboma D003103
T11 491-505 DiseaseOrPhenotypicFeature denotes microphthalmia D008850
T10 486-488 DiseaseOrPhenotypicFeature denotes MR D008607
T96765 444-484 DiseaseOrPhenotypicFeature denotes X-linked phenotype of mental retardation DISEASE
T44580 382-386 DiseaseOrPhenotypicFeature denotes XLMR DISEASE
T87219 363-367 DiseaseOrPhenotypicFeature denotes XLMR DISEASE
T6556 227-231 DiseaseOrPhenotypicFeature denotes XLMR DISEASE
T59750 193-197 DiseaseOrPhenotypicFeature denotes XLMR DISEASE
T30956 116-143 DiseaseOrPhenotypicFeature denotes X-linked mental retardation D038901
T12538 96-114 DiseaseOrPhenotypicFeature denotes mental retardation D008607
T61537 78-90 DiseaseOrPhenotypicFeature denotes microcephaly D008831
T21811 62-76 DiseaseOrPhenotypicFeature denotes microphthalmia D008850
T38739 994-1002 OrganismTaxon denotes patients
T38142 1347-1360 SequenceVariant denotes 2-bp deletion
T37958 1128-1142 SequenceVariant denotes c.461_462delAG
T19725 1113-1126 SequenceVariant denotes 2-bp deletion

sentences

Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-115 Sentence denotes A two base pair deletion in the PQBP1 gene is associated with microphthalmia, microcephaly, and mental retardation.
TextSentencer_T2 116-387 Sentence denotes X-linked mental retardation has been traditionally divided into syndromic (S-XLMR) and non-syndromic forms (NS-XLMR), although the borderlines between these phenotypes begin to vanish and mutations in a single gene, for example PQBP1, can cause S-XLMR as well as NS-XLMR.
TextSentencer_T3 388-580 Sentence denotes Here, we report two maternal cousins with an apparently X-linked phenotype of mental retardation (MR), microphthalmia, choroid coloboma, microcephaly, renal hypoplasia, and spastic paraplegia.
TextSentencer_T4 581-755 Sentence denotes By multipoint linkage analysis with markers spanning the entire X-chromosome we mapped the disease locus to a 28-Mb interval between Xp11.4 and Xq12, including the BCOR gene.
TextSentencer_T5 756-937 Sentence denotes A missense mutation in BCOR was described in a family with Lenz microphthalmia syndrome, a phenotype showing substantial overlapping features with that described in the two cousins.
TextSentencer_T6 938-1003 Sentence denotes However, no mutation in the BCOR gene was found in both patients.
TextSentencer_T7 1004-1179 Sentence denotes Subsequent mutation analysis of PQBP1, located within the delineated linkage interval in Xp11.23, revealed a 2-bp deletion, c.461_462delAG, that cosegregated with the disease.
TextSentencer_T8 1180-1290 Sentence denotes Notably, the same mutation is associated with the Hamel cerebropalatocardiac syndrome, another form of S-XLMR.
TextSentencer_T9 1291-1418 Sentence denotes Haplotype analysis suggests a germline mosaicism of the 2-bp deletion in the maternal grandmother of both affected individuals.
TextSentencer_T10 1419-1659 Sentence denotes In summary, our findings demonstrate for the first time that mutations in PQBP1 are associated with an S-XLMR phenotype including microphthalmia, thereby further extending the clinical spectrum of phenotypes associated with PQBP1 mutations.
T1 0-115 Sentence denotes A two base pair deletion in the PQBP1 gene is associated with microphthalmia, microcephaly, and mental retardation.
T2 116-387 Sentence denotes X-linked mental retardation has been traditionally divided into syndromic (S-XLMR) and non-syndromic forms (NS-XLMR), although the borderlines between these phenotypes begin to vanish and mutations in a single gene, for example PQBP1, can cause S-XLMR as well as NS-XLMR.
T3 388-580 Sentence denotes Here, we report two maternal cousins with an apparently X-linked phenotype of mental retardation (MR), microphthalmia, choroid coloboma, microcephaly, renal hypoplasia, and spastic paraplegia.
T4 581-755 Sentence denotes By multipoint linkage analysis with markers spanning the entire X-chromosome we mapped the disease locus to a 28-Mb interval between Xp11.4 and Xq12, including the BCOR gene.
T5 756-937 Sentence denotes A missense mutation in BCOR was described in a family with Lenz microphthalmia syndrome, a phenotype showing substantial overlapping features with that described in the two cousins.
T6 938-1003 Sentence denotes However, no mutation in the BCOR gene was found in both patients.
T7 1004-1179 Sentence denotes Subsequent mutation analysis of PQBP1, located within the delineated linkage interval in Xp11.23, revealed a 2-bp deletion, c.461_462delAG, that cosegregated with the disease.
T8 1180-1290 Sentence denotes Notably, the same mutation is associated with the Hamel cerebropalatocardiac syndrome, another form of S-XLMR.
T9 1291-1418 Sentence denotes Haplotype analysis suggests a germline mosaicism of the 2-bp deletion in the maternal grandmother of both affected individuals.
T10 1419-1659 Sentence denotes In summary, our findings demonstrate for the first time that mutations in PQBP1 are associated with an S-XLMR phenotype including microphthalmia, thereby further extending the clinical spectrum of phenotypes associated with PQBP1 mutations.

DisGeNET

Id Subject Object Predicate Lexical cue
T0 193-197 gene:1741 denotes XLMR
T1 116-143 disease:C1136249 denotes X-linked mental retardation
T2 227-231 gene:1741 denotes XLMR
T3 116-143 disease:C1136249 denotes X-linked mental retardation
T4 363-367 gene:1741 denotes XLMR
T5 116-143 disease:C1136249 denotes X-linked mental retardation
T6 779-783 gene:54880 denotes BCOR
T7 815-843 disease:C0796016 denotes Lenz microphthalmia syndrome
T8 1493-1498 gene:10084 denotes PQBP1
T9 1549-1563 disease:C0026010 denotes microphthalmia
T10 1643-1648 gene:10084 denotes PQBP1
T11 1549-1563 disease:C0026010 denotes microphthalmia
R1 T0 T1 associated_with XLMR,X-linked mental retardation
R2 T2 T3 associated_with XLMR,X-linked mental retardation
R3 T4 T5 associated_with XLMR,X-linked mental retardation
R4 T6 T7 associated_with BCOR,Lenz microphthalmia syndrome
R5 T8 T9 associated_with PQBP1,microphthalmia
R6 T10 T11 associated_with PQBP1,microphthalmia

PubmedHPO

Id Subject Object Predicate Lexical cue
T1 116-124 HP_0001417 denotes X-linked
T2 125-143 HP_0001249 denotes mental retardation
T3 444-452 HP_0001417 denotes X-linked
T4 466-484 HP_0001249 denotes mental retardation
T5 491-505 HP_0000568 denotes microphthalmia
T6 507-523 HP_0000611 denotes choroid coloboma
T7 515-523 HP_0000589 denotes coloboma
T8 525-537 HP_0000252 denotes microcephaly
T9 539-555 HP_0000089 denotes renal hypoplasia
T10 561-568 HP_0001257 denotes spastic
T11 561-579 HP_0001258 denotes spastic paraplegia
T12 569-579 HP_0010550 denotes paraplegia
T13 820-834 HP_0000568 denotes microphthalmia
T14 1549-1563 HP_0000568 denotes microphthalmia

DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
17033686-0#32#37#gene10084 32-37 gene10084 denotes PQBP1
17033686-0#96#114#diseaseC0025362 96-114 diseaseC0025362 denotes mental retardation
17033686-0#96#114#diseaseC3714756 96-114 diseaseC3714756 denotes mental retardation
17033686-0#62#76#diseaseC0026010 62-76 diseaseC0026010 denotes microphthalmia
17033686-1#77#81#gene1741 193-197 gene1741 denotes XLMR
17033686-1#111#115#gene1741 227-231 gene1741 denotes XLMR
17033686-1#228#233#gene10084 344-349 gene10084 denotes PQBP1
17033686-1#247#251#gene1741 363-367 gene1741 denotes XLMR
17033686-1#266#270#gene1741 382-386 gene1741 denotes XLMR
17033686-1#0#27#diseaseC1136249 116-143 diseaseC1136249 denotes X-linked mental retardation
17033686-4#23#27#gene54880 779-783 gene54880 denotes BCOR
17033686-4#59#87#diseaseC0796016 815-843 diseaseC0796016 denotes Lenz microphthalmia syndrome
32#37#gene1008496#114#diseaseC0025362 17033686-0#32#37#gene10084 17033686-0#96#114#diseaseC0025362 associated_with PQBP1,mental retardation
32#37#gene1008496#114#diseaseC3714756 17033686-0#32#37#gene10084 17033686-0#96#114#diseaseC3714756 associated_with PQBP1,mental retardation
32#37#gene1008462#76#diseaseC0026010 17033686-0#32#37#gene10084 17033686-0#62#76#diseaseC0026010 associated_with PQBP1,microphthalmia
77#81#gene17410#27#diseaseC1136249 17033686-1#77#81#gene1741 17033686-1#0#27#diseaseC1136249 associated_with XLMR,X-linked mental retardation
111#115#gene17410#27#diseaseC1136249 17033686-1#111#115#gene1741 17033686-1#0#27#diseaseC1136249 associated_with XLMR,X-linked mental retardation
228#233#gene100840#27#diseaseC1136249 17033686-1#228#233#gene10084 17033686-1#0#27#diseaseC1136249 associated_with PQBP1,X-linked mental retardation
247#251#gene17410#27#diseaseC1136249 17033686-1#247#251#gene1741 17033686-1#0#27#diseaseC1136249 associated_with XLMR,X-linked mental retardation
266#270#gene17410#27#diseaseC1136249 17033686-1#266#270#gene1741 17033686-1#0#27#diseaseC1136249 associated_with XLMR,X-linked mental retardation
23#27#gene5488059#87#diseaseC0796016 17033686-4#23#27#gene54880 17033686-4#59#87#diseaseC0796016 associated_with BCOR,Lenz microphthalmia syndrome

PubCasesHPO

Id Subject Object Predicate Lexical cue
TI1 62-76 HP:0000568 denotes microphthalmia
TI2 78-90 HP:0000252 denotes microcephaly
AB1 491-505 HP:0000568 denotes microphthalmia
AB2 515-523 HP:0000589 denotes coloboma
AB3 525-537 HP:0000252 denotes microcephaly
AB4 539-555 HP:0000089 denotes renal hypoplasia
AB5 561-579 HP:0001258 denotes spastic paraplegia
AB6 820-834 HP:0000568 denotes microphthalmia
AB7 1549-1563 HP:0000568 denotes microphthalmia

PubCasesORDO

Id Subject Object Predicate Lexical cue
AB1 539-555 ORDO:93101 denotes renal hypoplasia
AB2 815-834 ORDO:568 denotes Lenz microphthalmia