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PubMed:18179903 JSONTXT

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PMID_GLOBAL

Id Subject Object Predicate Lexical cue mondo_id
T1 63-90 DiseaseOrPhenotypicFeature denotes multiple pterygium syndrome 0009926|0017415
T3 116-144 DiseaseOrPhenotypicFeature denotes Multiple pterygium syndromes 0009926|0017415
T5 146-149 DiseaseOrPhenotypicFeature denotes MPS 0019249
T6 303-317 DiseaseOrPhenotypicFeature denotes arthrogryposis 0008779
T7 320-323 DiseaseOrPhenotypicFeature denotes MPS 0019249
T8 575-578 DiseaseOrPhenotypicFeature denotes can 0012833
T9 611-614 DiseaseOrPhenotypicFeature denotes MPS 0019249
T10 773-776 DiseaseOrPhenotypicFeature denotes MPS 0019249
T11 840-843 DiseaseOrPhenotypicFeature denotes MPS 0019249
T12 1136-1159 DiseaseOrPhenotypicFeature denotes fetal akinesia sequence 0008824
T13 1211-1232 DiseaseOrPhenotypicFeature denotes congenital myasthenia 0018940
T14 1347-1368 DiseaseOrPhenotypicFeature denotes congenital myasthenia 0018940
T15 1399-1402 DiseaseOrPhenotypicFeature denotes can 0012833

LitCoin-sentences

Id Subject Object Predicate Lexical cue
T1 0-115 Sentence denotes Mutation analysis of CHRNA1, CHRNB1, CHRND, and RAPSN genes in multiple pterygium syndrome/fetal akinesia patients.
T2 116-319 Sentence denotes Multiple pterygium syndromes (MPS) comprise a group of multiple congenital anomaly disorders characterized by webbing (pterygia) of the neck, elbows, and/or knees and joint contractures (arthrogryposis).
T3 320-456 Sentence denotes MPS are phenotypically and genetically heterogeneous but are traditionally divided into prenatally lethal and nonlethal (Escobar) types.
T4 457-678 Sentence denotes Previously, we and others reported that recessive mutations in the embryonal acetylcholine receptor g subunit (CHRNG) can cause both lethal and nonlethal MPS, thus demonstrating that pterygia resulted from fetal akinesia.
T5 679-952 Sentence denotes We hypothesized that mutations in acetylcholine receptor-related genes might also result in a MPS/fetal akinesia phenotype and so we analyzed 15 cases of lethal MPS/fetal akinesia without CHRNG mutations for mutations in the CHRNA1, CHRNB1, CHRND, and rapsyn (RAPSN) genes.
T6 953-1160 Sentence denotes No CHRNA1, CHRNB1, or CHRND mutations were detected, but a homozygous RAPSN frameshift mutation, c.1177-1178delAA, was identified in a family with three children affected with lethal fetal akinesia sequence.
T7 1161-1233 Sentence denotes Previously, RAPSN mutations have been reported in congenital myasthenia.
T8 1234-1447 Sentence denotes Functional studies were consistent with the hypothesis that whereas incomplete loss of rapsyn function may cause congenital myasthenia, more severe loss of function can result in a lethal fetal akinesia phenotype.

LitCoin-entities-OrganismTaxon-PD

Id Subject Object Predicate Lexical cue db_id
T1 235-243 OrganismTaxon denotes pterygia NCBItxid:1719413
T2 640-648 OrganismTaxon denotes pterygia NCBItxid:1719413

LitCoin-entities

Id Subject Object Predicate Lexical cue db_id
4684 21-27 GeneOrGeneProduct denotes CHRNA1 NCBIGene:1134
4685 29-35 GeneOrGeneProduct denotes CHRNB1 NCBIGene:1140
4686 37-42 GeneOrGeneProduct denotes CHRND NCBIGene:1144
4687 48-53 GeneOrGeneProduct denotes RAPSN NCBIGene:5913
4688 63-90 DiseaseOrPhenotypicFeature denotes multiple pterygium syndrome MESH:C537377
4689 91-105 DiseaseOrPhenotypicFeature denotes fetal akinesia MESH:C536647
4690 106-114 OrganismTaxon denotes patients NCBITaxon:9606
4691 116-144 DiseaseOrPhenotypicFeature denotes Multiple pterygium syndromes MESH:C537377
4692 146-149 DiseaseOrPhenotypicFeature denotes MPS MESH:C537377
4693 180-208 DiseaseOrPhenotypicFeature denotes congenital anomaly disorders MESH:D000013
4694 283-301 DiseaseOrPhenotypicFeature denotes joint contractures MESH:D003286
4695 303-317 DiseaseOrPhenotypicFeature denotes arthrogryposis MESH:D001176
4696 320-323 DiseaseOrPhenotypicFeature denotes MPS MESH:C537377
4697 524-566 GeneOrGeneProduct denotes embryonal acetylcholine receptor g subunit NCBIGene:1146
4698 568-573 GeneOrGeneProduct denotes CHRNG NCBIGene:1146
4699 611-614 DiseaseOrPhenotypicFeature denotes MPS MESH:C537377
4700 663-677 DiseaseOrPhenotypicFeature denotes fetal akinesia MESH:C536647
4701 773-776 DiseaseOrPhenotypicFeature denotes MPS MESH:C537377
4702 777-791 DiseaseOrPhenotypicFeature denotes fetal akinesia MESH:C536647
4703 840-843 DiseaseOrPhenotypicFeature denotes MPS MESH:C537377
4704 844-858 DiseaseOrPhenotypicFeature denotes fetal akinesia MESH:C536647
4705 867-872 GeneOrGeneProduct denotes CHRNG NCBIGene:1146
4706 904-910 GeneOrGeneProduct denotes CHRNA1 NCBIGene:1134
4707 912-918 GeneOrGeneProduct denotes CHRNB1 NCBIGene:1140
4708 920-925 GeneOrGeneProduct denotes CHRND NCBIGene:1144
4709 931-937 GeneOrGeneProduct denotes rapsyn NCBIGene:5913
4710 939-944 GeneOrGeneProduct denotes RAPSN NCBIGene:5913
4711 956-962 GeneOrGeneProduct denotes CHRNA1 NCBIGene:1134
4712 964-970 GeneOrGeneProduct denotes CHRNB1 NCBIGene:1140
4713 975-980 GeneOrGeneProduct denotes CHRND NCBIGene:1144
4714 1023-1028 GeneOrGeneProduct denotes RAPSN NCBIGene:5913
4715 1050-1066 SequenceVariant denotes c.1177-1178delAA c|DEL|1177_1178|AA
4716 1136-1159 DiseaseOrPhenotypicFeature denotes fetal akinesia sequence MESH:C536647
4717 1173-1178 GeneOrGeneProduct denotes RAPSN NCBIGene:5913
4718 1211-1232 DiseaseOrPhenotypicFeature denotes congenital myasthenia MESH:D020294
4719 1321-1327 GeneOrGeneProduct denotes rapsyn NCBIGene:5913
4720 1347-1368 DiseaseOrPhenotypicFeature denotes congenital myasthenia MESH:D020294
4721 1422-1436 DiseaseOrPhenotypicFeature denotes fetal akinesia MESH:C536647

LitCoin_Mondo

Id Subject Object Predicate Lexical cue mondo_id
T1 63-90 DiseaseOrPhenotypicFeature denotes multiple pterygium syndrome 0017415
T2 72-81 DiseaseOrPhenotypicFeature denotes pterygium 0005085
T3 116-144 DiseaseOrPhenotypicFeature denotes Multiple pterygium syndromes 0017415
T4 125-134 DiseaseOrPhenotypicFeature denotes pterygium 0005085
T5 180-190 DiseaseOrPhenotypicFeature denotes congenital 0021140
T6 289-301 DiseaseOrPhenotypicFeature denotes contractures 0005307
T7 303-317 DiseaseOrPhenotypicFeature denotes arthrogryposis 0008779
T8 1211-1221 DiseaseOrPhenotypicFeature denotes congenital 0021140
T9 1347-1357 DiseaseOrPhenotypicFeature denotes congenital 0021140

LitCoin-SeqVar

Id Subject Object Predicate Lexical cue
T1 1050-1066 SequenceVariant denotes c.1177-1178delAA

LitCoin-GeneOrGeneProduct-v0

Id Subject Object Predicate Lexical cue
T1 0-8 GeneOrGeneProduct denotes Mutation
T2 21-27 GeneOrGeneProduct denotes CHRNA1
T3 29-35 GeneOrGeneProduct denotes CHRNB1
T4 37-42 GeneOrGeneProduct denotes CHRND
T5 48-53 GeneOrGeneProduct denotes RAPSN
T6 63-71 GeneOrGeneProduct denotes multiple
T7 82-90 GeneOrGeneProduct denotes syndrome
T8 116-124 GeneOrGeneProduct denotes Multiple
T9 135-144 GeneOrGeneProduct denotes syndromes
T10 171-179 GeneOrGeneProduct denotes multiple
T11 258-264 GeneOrGeneProduct denotes elbows
T12 419-425 GeneOrGeneProduct denotes lethal
T13 476-482 GeneOrGeneProduct denotes others
T14 507-516 GeneOrGeneProduct denotes mutations
T15 548-556 GeneOrGeneProduct denotes receptor
T16 568-573 GeneOrGeneProduct denotes CHRNG
T17 590-596 GeneOrGeneProduct denotes lethal
T18 695-709 GeneOrGeneProduct denotes that mutations
T19 713-743 GeneOrGeneProduct denotes acetylcholine receptor-related
T20 768-772 GeneOrGeneProduct denotes in a
T21 824-829 GeneOrGeneProduct denotes cases
T22 833-839 GeneOrGeneProduct denotes lethal
T23 867-872 GeneOrGeneProduct denotes CHRNG
T24 873-882 GeneOrGeneProduct denotes mutations
T25 887-896 GeneOrGeneProduct denotes mutations
T26 904-910 GeneOrGeneProduct denotes CHRNA1
T27 912-918 GeneOrGeneProduct denotes CHRNB1
T28 920-925 GeneOrGeneProduct denotes CHRND
T29 931-937 GeneOrGeneProduct denotes rapsyn
T30 939-944 GeneOrGeneProduct denotes RAPSN
T31 956-962 GeneOrGeneProduct denotes CHRNA1
T32 964-970 GeneOrGeneProduct denotes CHRNB1
T33 975-980 GeneOrGeneProduct denotes CHRND
T34 981-990 GeneOrGeneProduct denotes mutations
T35 1023-1028 GeneOrGeneProduct denotes RAPSN
T36 1040-1048 GeneOrGeneProduct denotes mutation
T37 1083-1087 GeneOrGeneProduct denotes in a
T38 1129-1135 GeneOrGeneProduct denotes lethal
T39 1173-1178 GeneOrGeneProduct denotes RAPSN
T40 1179-1188 GeneOrGeneProduct denotes mutations
T41 1321-1327 GeneOrGeneProduct denotes rapsyn
T42 1410-1414 GeneOrGeneProduct denotes in a
T43 1415-1421 GeneOrGeneProduct denotes lethal

LitCoin-GeneOrGeneProduct-v2

Id Subject Object Predicate Lexical cue
T1 21-27 GeneOrGeneProduct denotes CHRNA1
T2 29-35 GeneOrGeneProduct denotes CHRNB1
T3 37-42 GeneOrGeneProduct denotes CHRND
T4 48-53 GeneOrGeneProduct denotes RAPSN
T5 63-71 GeneOrGeneProduct denotes multiple
T6 82-90 GeneOrGeneProduct denotes syndrome
T7 116-124 GeneOrGeneProduct denotes Multiple
T8 135-144 GeneOrGeneProduct denotes syndromes
T9 171-179 GeneOrGeneProduct denotes multiple
T10 419-425 GeneOrGeneProduct denotes lethal
T11 548-556 GeneOrGeneProduct denotes receptor
T12 568-573 GeneOrGeneProduct denotes CHRNG
T13 590-596 GeneOrGeneProduct denotes lethal
T14 713-743 GeneOrGeneProduct denotes acetylcholine receptor-related
T15 833-839 GeneOrGeneProduct denotes lethal
T16 867-872 GeneOrGeneProduct denotes CHRNG
T17 904-910 GeneOrGeneProduct denotes CHRNA1
T18 912-918 GeneOrGeneProduct denotes CHRNB1
T19 920-925 GeneOrGeneProduct denotes CHRND
T20 931-937 GeneOrGeneProduct denotes rapsyn
T21 939-944 GeneOrGeneProduct denotes RAPSN
T22 956-962 GeneOrGeneProduct denotes CHRNA1
T23 964-970 GeneOrGeneProduct denotes CHRNB1
T24 975-980 GeneOrGeneProduct denotes CHRND
T25 1023-1028 GeneOrGeneProduct denotes RAPSN
T26 1129-1135 GeneOrGeneProduct denotes lethal
T27 1173-1178 GeneOrGeneProduct denotes RAPSN
T28 1321-1327 GeneOrGeneProduct denotes rapsyn
T29 1415-1421 GeneOrGeneProduct denotes lethal

LitCoin-Disease-MeSH

Id Subject Object Predicate Lexical cue originalLabel
T1 63-90 DiseaseOrPhenotypicFeature denotes multiple pterygium syndrome C537377
T2 116-144 DiseaseOrPhenotypicFeature denotes Multiple pterygium syndromes C537377
T3 289-301 DiseaseOrPhenotypicFeature denotes contractures D003286
T4 303-317 DiseaseOrPhenotypicFeature denotes arthrogryposis D001176
T5 1136-1159 DiseaseOrPhenotypicFeature denotes fetal akinesia sequence C536647
T6 1211-1232 DiseaseOrPhenotypicFeature denotes congenital myasthenia D020294
T7 1347-1368 DiseaseOrPhenotypicFeature denotes congenital myasthenia D020294

LitCoin-GeneOrGeneProduct-v3

Id Subject Object Predicate Lexical cue
T1 21-27 GeneOrGeneProduct denotes CHRNA1
T2 29-35 GeneOrGeneProduct denotes CHRNB1
T3 37-42 GeneOrGeneProduct denotes CHRND
T4 48-53 GeneOrGeneProduct denotes RAPSN
T5 534-556 GeneOrGeneProduct denotes acetylcholine receptor
T6 568-573 GeneOrGeneProduct denotes CHRNG
T7 713-743 GeneOrGeneProduct denotes acetylcholine receptor-related
T8 867-872 GeneOrGeneProduct denotes CHRNG
T9 904-910 GeneOrGeneProduct denotes CHRNA1
T10 912-918 GeneOrGeneProduct denotes CHRNB1
T11 920-925 GeneOrGeneProduct denotes CHRND
T12 931-937 GeneOrGeneProduct denotes rapsyn
T13 939-944 GeneOrGeneProduct denotes RAPSN
T14 956-962 GeneOrGeneProduct denotes CHRNA1
T15 964-970 GeneOrGeneProduct denotes CHRNB1
T16 975-980 GeneOrGeneProduct denotes CHRND
T17 1023-1028 GeneOrGeneProduct denotes RAPSN
T18 1173-1178 GeneOrGeneProduct denotes RAPSN
T19 1321-1327 GeneOrGeneProduct denotes rapsyn

LitCoin_Mondo_095

Id Subject Object Predicate Lexical cue mondo_id
T1 63-90 DiseaseOrPhenotypicFeature denotes multiple pterygium syndrome 0017415|0009926
T3 116-144 DiseaseOrPhenotypicFeature denotes Multiple pterygium syndromes 0017415|0009926
T5 146-149 DiseaseOrPhenotypicFeature denotes MPS 0019249
T6 303-317 DiseaseOrPhenotypicFeature denotes arthrogryposis 0008779
T7 320-323 DiseaseOrPhenotypicFeature denotes MPS 0019249
T8 575-578 DiseaseOrPhenotypicFeature denotes can 0012833
T9 611-614 DiseaseOrPhenotypicFeature denotes MPS 0019249
T10 773-776 DiseaseOrPhenotypicFeature denotes MPS 0019249
T11 840-843 DiseaseOrPhenotypicFeature denotes MPS 0019249
T12 1136-1159 DiseaseOrPhenotypicFeature denotes fetal akinesia sequence 0008824
T13 1211-1232 DiseaseOrPhenotypicFeature denotes congenital myasthenia 0018940
T14 1347-1368 DiseaseOrPhenotypicFeature denotes congenital myasthenia 0018940
T15 1399-1402 DiseaseOrPhenotypicFeature denotes can 0012833

LitCoin-MeSH-Disease-2

Id Subject Object Predicate Lexical cue ID:
T7 303-317 DiseaseOrPhenotypicFeature denotes arthrogryposis D001176
T8 320-323 DiseaseOrPhenotypicFeature denotes MPS DISEASE
T9 611-614 DiseaseOrPhenotypicFeature denotes MPS DISEASE
T10 663-677 DiseaseOrPhenotypicFeature denotes fetal akinesia DISEASE
T11 773-776 DiseaseOrPhenotypicFeature denotes MPS DISEASE
T12 777-791 DiseaseOrPhenotypicFeature denotes fetal akinesia DISEASE
T13 840-843 DiseaseOrPhenotypicFeature denotes MPS DISEASE
T14 844-858 DiseaseOrPhenotypicFeature denotes fetal akinesia DISEASE
T15 1136-1159 DiseaseOrPhenotypicFeature denotes fetal akinesia sequence C536647
T16 1211-1232 DiseaseOrPhenotypicFeature denotes congenital myasthenia D020294
T17 1347-1368 DiseaseOrPhenotypicFeature denotes congenital myasthenia D020294
T18 1422-1436 DiseaseOrPhenotypicFeature denotes fetal akinesia DISEASE
T1 63-90 DiseaseOrPhenotypicFeature denotes multiple pterygium syndrome C537377
T2 91-105 DiseaseOrPhenotypicFeature denotes fetal akinesia DISEASE
T3 116-144 DiseaseOrPhenotypicFeature denotes Multiple pterygium syndromes C537377
T4 146-149 DiseaseOrPhenotypicFeature denotes MPS DISEASE
T5 180-208 DiseaseOrPhenotypicFeature denotes congenital anomaly disorders DISEASE
T6 289-301 DiseaseOrPhenotypicFeature denotes contractures D003286

LitCoin-MONDO_bioort2019

Id Subject Object Predicate Lexical cue #label
T1 63-90 DiseaseOrPhenotypicFeature denotes multiple pterygium syndrome C537377
T2 91-105 DiseaseOrPhenotypicFeature denotes fetal akinesia DISEASE
T3 116-144 DiseaseOrPhenotypicFeature denotes Multiple pterygium syndromes C537377
T4 146-149 DiseaseOrPhenotypicFeature denotes MPS DISEASE
T5 180-208 DiseaseOrPhenotypicFeature denotes congenital anomaly disorders DISEASE
T6 289-301 DiseaseOrPhenotypicFeature denotes contractures D003286
T7 303-317 DiseaseOrPhenotypicFeature denotes arthrogryposis D001176
T8 320-323 DiseaseOrPhenotypicFeature denotes MPS DISEASE
T9 611-614 DiseaseOrPhenotypicFeature denotes MPS DISEASE
T10 663-677 DiseaseOrPhenotypicFeature denotes fetal akinesia DISEASE
T11 773-776 DiseaseOrPhenotypicFeature denotes MPS DISEASE
T12 777-791 DiseaseOrPhenotypicFeature denotes fetal akinesia DISEASE
T13 840-843 DiseaseOrPhenotypicFeature denotes MPS DISEASE
T14 844-858 DiseaseOrPhenotypicFeature denotes fetal akinesia DISEASE
T15 1136-1159 DiseaseOrPhenotypicFeature denotes fetal akinesia sequence C536647
T16 1211-1232 DiseaseOrPhenotypicFeature denotes congenital myasthenia D020294
T17 1347-1368 DiseaseOrPhenotypicFeature denotes congenital myasthenia D020294
T18 1422-1436 DiseaseOrPhenotypicFeature denotes fetal akinesia DISEASE

LitCoin-Chemical-MeSH-CHEBI

Id Subject Object Predicate Lexical cue ID:
T1 534-547 ChemicalEntity denotes acetylcholine D000109|http://purl.obolibrary.org/obo/CHEBI_15355
T3 713-726 ChemicalEntity denotes acetylcholine D000109|http://purl.obolibrary.org/obo/CHEBI_15355

LitCoin-NCBITaxon-2

Id Subject Object Predicate Lexical cue
T1 106-114 OrganismTaxon denotes patients
T2 235-243 OrganismTaxon denotes pterygia
T3 640-648 OrganismTaxon denotes pterygia

LitCoin-training-merged

Id Subject Object Predicate Lexical cue #label ID:
T3 713-726 ChemicalEntity denotes acetylcholine http://purl.obolibrary.org/obo/CHEBI_15355|D000109
T1 534-547 ChemicalEntity denotes acetylcholine http://purl.obolibrary.org/obo/CHEBI_15355|D000109
T19 1321-1327 GeneOrGeneProduct denotes rapsyn
T18 1173-1178 GeneOrGeneProduct denotes RAPSN
T17 1023-1028 GeneOrGeneProduct denotes RAPSN
T16 975-980 GeneOrGeneProduct denotes CHRND
T15 964-970 GeneOrGeneProduct denotes CHRNB1
T14 956-962 GeneOrGeneProduct denotes CHRNA1
T13 939-944 GeneOrGeneProduct denotes RAPSN
T12 931-937 GeneOrGeneProduct denotes rapsyn
T11 920-925 GeneOrGeneProduct denotes CHRND
T10 912-918 GeneOrGeneProduct denotes CHRNB1
T9 904-910 GeneOrGeneProduct denotes CHRNA1
T8 867-872 GeneOrGeneProduct denotes CHRNG
T7 713-743 GeneOrGeneProduct denotes acetylcholine receptor-related
T6 568-573 GeneOrGeneProduct denotes CHRNG
T5 534-556 GeneOrGeneProduct denotes acetylcholine receptor
T4 48-53 GeneOrGeneProduct denotes RAPSN
T51545 37-42 GeneOrGeneProduct denotes CHRND
T2 29-35 GeneOrGeneProduct denotes CHRNB1
T57614 21-27 GeneOrGeneProduct denotes CHRNA1
T54925 1422-1436 DiseaseOrPhenotypicFeature denotes fetal akinesia DISEASE
T95503 1347-1368 DiseaseOrPhenotypicFeature denotes congenital myasthenia D020294
T58325 1211-1232 DiseaseOrPhenotypicFeature denotes congenital myasthenia D020294
T71137 1136-1159 DiseaseOrPhenotypicFeature denotes fetal akinesia sequence C536647
T87838 844-858 DiseaseOrPhenotypicFeature denotes fetal akinesia DISEASE
T90962 840-843 DiseaseOrPhenotypicFeature denotes MPS DISEASE
T52559 777-791 DiseaseOrPhenotypicFeature denotes fetal akinesia DISEASE
T8215 773-776 DiseaseOrPhenotypicFeature denotes MPS DISEASE
T841 663-677 DiseaseOrPhenotypicFeature denotes fetal akinesia DISEASE
T94522 611-614 DiseaseOrPhenotypicFeature denotes MPS DISEASE
T74228 320-323 DiseaseOrPhenotypicFeature denotes MPS DISEASE
T94485 303-317 DiseaseOrPhenotypicFeature denotes arthrogryposis D001176
T97311 289-301 DiseaseOrPhenotypicFeature denotes contractures D003286
T10814 180-208 DiseaseOrPhenotypicFeature denotes congenital anomaly disorders DISEASE
T37482 146-149 DiseaseOrPhenotypicFeature denotes MPS DISEASE
T79716 116-144 DiseaseOrPhenotypicFeature denotes Multiple pterygium syndromes C537377
T6196 91-105 DiseaseOrPhenotypicFeature denotes fetal akinesia DISEASE
T34416 63-90 DiseaseOrPhenotypicFeature denotes multiple pterygium syndrome C537377
T42646 640-648 OrganismTaxon denotes pterygia
T7553 235-243 OrganismTaxon denotes pterygia
T22689 106-114 OrganismTaxon denotes patients
T91458 1050-1066 SequenceVariant denotes c.1177-1178delAA

DisGeNET

Id Subject Object Predicate Lexical cue
T0 48-53 gene:5913 denotes RAPSN
T1 63-90 disease:C0265261 denotes multiple pterygium syndrome
R1 T0 T1 associated_with RAPSN,multiple pterygium syndrome

DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
18179903-0#48#53#gene5913 48-53 gene5913 denotes RAPSN
18179903-0#63#90#diseaseC0265261 63-90 diseaseC0265261 denotes multiple pterygium syndrome
18179903-4#260#265#gene5913 939-944 gene5913 denotes RAPSN
18179903-4#165#179#diseaseC1276035 844-858 diseaseC1276035 denotes fetal akinesia
48#53#gene591363#90#diseaseC0265261 18179903-0#48#53#gene5913 18179903-0#63#90#diseaseC0265261 associated_with RAPSN,multiple pterygium syndrome
260#265#gene5913165#179#diseaseC1276035 18179903-4#260#265#gene5913 18179903-4#165#179#diseaseC1276035 associated_with RAPSN,fetal akinesia