PubMed:11439001
Annnotations
DisGeNET5_variant_disease
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| 11439001-6#131#137#geners72653744 | 993-999 | geners72653744 | denotes | R1164X |
| 11439001-6#156#165#geners773165722 | 1018-1027 | geners773165722 | denotes | c.960delC |
| 11439001-6#156#165#geners139211763 | 1018-1027 | geners139211763 | denotes | c.960delC |
| 11439001-6#156#165#geners72664226 | 1018-1027 | geners72664226 | denotes | c.960delC |
| 11439001-6#124#129#geners72650700 | 986-991 | geners72650700 | denotes | R518X |
| 11439001-6#275#299#diseaseC0033847 | 1137-1161 | diseaseC0033847 | denotes | pseudoxanthoma elasticum |
| 11439001-6#275#299#diseaseC0473583 | 1137-1161 | diseaseC0473583 | denotes | pseudoxanthoma elasticum |
| 11439001-6#275#299#diseaseC0033847 | 1137-1161 | diseaseC0033847 | denotes | pseudoxanthoma elasticum |
| 11439001-6#275#299#diseaseC0473583 | 1137-1161 | diseaseC0473583 | denotes | pseudoxanthoma elasticum |
| 11439001-6#275#299#diseaseC0033847 | 1137-1161 | diseaseC0033847 | denotes | pseudoxanthoma elasticum |
| 11439001-6#275#299#diseaseC0473583 | 1137-1161 | diseaseC0473583 | denotes | pseudoxanthoma elasticum |
| 11439001-6#275#299#diseaseC0033847 | 1137-1161 | diseaseC0033847 | denotes | pseudoxanthoma elasticum |
| 11439001-6#275#299#diseaseC0473583 | 1137-1161 | diseaseC0473583 | denotes | pseudoxanthoma elasticum |
| 11439001-6#275#299#diseaseC0033847 | 1137-1161 | diseaseC0033847 | denotes | pseudoxanthoma elasticum |
| 11439001-6#275#299#diseaseC0473583 | 1137-1161 | diseaseC0473583 | denotes | pseudoxanthoma elasticum |
| 131#137#geners72653744275#299#diseaseC0033847 | 11439001-6#131#137#geners72653744 | 11439001-6#275#299#diseaseC0033847 | associated_with | R1164X,pseudoxanthoma elasticum |
| 131#137#geners72653744275#299#diseaseC0473583 | 11439001-6#131#137#geners72653744 | 11439001-6#275#299#diseaseC0473583 | associated_with | R1164X,pseudoxanthoma elasticum |
| 131#137#geners72653744275#299#diseaseC0033847 | 11439001-6#131#137#geners72653744 | 11439001-6#275#299#diseaseC0033847 | associated_with | R1164X,pseudoxanthoma elasticum |
| 131#137#geners72653744275#299#diseaseC0473583 | 11439001-6#131#137#geners72653744 | 11439001-6#275#299#diseaseC0473583 | associated_with | R1164X,pseudoxanthoma elasticum |
| 131#137#geners72653744275#299#diseaseC0033847 | 11439001-6#131#137#geners72653744 | 11439001-6#275#299#diseaseC0033847 | associated_with | R1164X,pseudoxanthoma elasticum |
| 131#137#geners72653744275#299#diseaseC0473583 | 11439001-6#131#137#geners72653744 | 11439001-6#275#299#diseaseC0473583 | associated_with | R1164X,pseudoxanthoma elasticum |
| 131#137#geners72653744275#299#diseaseC0033847 | 11439001-6#131#137#geners72653744 | 11439001-6#275#299#diseaseC0033847 | associated_with | R1164X,pseudoxanthoma elasticum |
| 131#137#geners72653744275#299#diseaseC0473583 | 11439001-6#131#137#geners72653744 | 11439001-6#275#299#diseaseC0473583 | associated_with | R1164X,pseudoxanthoma elasticum |
| 131#137#geners72653744275#299#diseaseC0033847 | 11439001-6#131#137#geners72653744 | 11439001-6#275#299#diseaseC0033847 | associated_with | R1164X,pseudoxanthoma elasticum |
| 131#137#geners72653744275#299#diseaseC0473583 | 11439001-6#131#137#geners72653744 | 11439001-6#275#299#diseaseC0473583 | associated_with | R1164X,pseudoxanthoma elasticum |
| 156#165#geners773165722275#299#diseaseC0033847 | 11439001-6#156#165#geners773165722 | 11439001-6#275#299#diseaseC0033847 | associated_with | c.960delC,pseudoxanthoma elasticum |
| 156#165#geners773165722275#299#diseaseC0473583 | 11439001-6#156#165#geners773165722 | 11439001-6#275#299#diseaseC0473583 | associated_with | c.960delC,pseudoxanthoma elasticum |
| 156#165#geners773165722275#299#diseaseC0033847 | 11439001-6#156#165#geners773165722 | 11439001-6#275#299#diseaseC0033847 | associated_with | c.960delC,pseudoxanthoma elasticum |
| 156#165#geners773165722275#299#diseaseC0473583 | 11439001-6#156#165#geners773165722 | 11439001-6#275#299#diseaseC0473583 | associated_with | c.960delC,pseudoxanthoma elasticum |
| 156#165#geners773165722275#299#diseaseC0033847 | 11439001-6#156#165#geners773165722 | 11439001-6#275#299#diseaseC0033847 | associated_with | c.960delC,pseudoxanthoma elasticum |
| 156#165#geners773165722275#299#diseaseC0473583 | 11439001-6#156#165#geners773165722 | 11439001-6#275#299#diseaseC0473583 | associated_with | c.960delC,pseudoxanthoma elasticum |
| 156#165#geners773165722275#299#diseaseC0033847 | 11439001-6#156#165#geners773165722 | 11439001-6#275#299#diseaseC0033847 | associated_with | c.960delC,pseudoxanthoma elasticum |
| 156#165#geners773165722275#299#diseaseC0473583 | 11439001-6#156#165#geners773165722 | 11439001-6#275#299#diseaseC0473583 | associated_with | c.960delC,pseudoxanthoma elasticum |
| 156#165#geners773165722275#299#diseaseC0033847 | 11439001-6#156#165#geners773165722 | 11439001-6#275#299#diseaseC0033847 | associated_with | c.960delC,pseudoxanthoma elasticum |
| 156#165#geners773165722275#299#diseaseC0473583 | 11439001-6#156#165#geners773165722 | 11439001-6#275#299#diseaseC0473583 | associated_with | c.960delC,pseudoxanthoma elasticum |
| 156#165#geners139211763275#299#diseaseC0033847 | 11439001-6#156#165#geners139211763 | 11439001-6#275#299#diseaseC0033847 | associated_with | c.960delC,pseudoxanthoma elasticum |
| 156#165#geners139211763275#299#diseaseC0473583 | 11439001-6#156#165#geners139211763 | 11439001-6#275#299#diseaseC0473583 | associated_with | c.960delC,pseudoxanthoma elasticum |
| 156#165#geners139211763275#299#diseaseC0033847 | 11439001-6#156#165#geners139211763 | 11439001-6#275#299#diseaseC0033847 | associated_with | c.960delC,pseudoxanthoma elasticum |
| 156#165#geners139211763275#299#diseaseC0473583 | 11439001-6#156#165#geners139211763 | 11439001-6#275#299#diseaseC0473583 | associated_with | c.960delC,pseudoxanthoma elasticum |
| 156#165#geners139211763275#299#diseaseC0033847 | 11439001-6#156#165#geners139211763 | 11439001-6#275#299#diseaseC0033847 | associated_with | c.960delC,pseudoxanthoma elasticum |
| 156#165#geners139211763275#299#diseaseC0473583 | 11439001-6#156#165#geners139211763 | 11439001-6#275#299#diseaseC0473583 | associated_with | c.960delC,pseudoxanthoma elasticum |
| 156#165#geners139211763275#299#diseaseC0033847 | 11439001-6#156#165#geners139211763 | 11439001-6#275#299#diseaseC0033847 | associated_with | c.960delC,pseudoxanthoma elasticum |
| 156#165#geners139211763275#299#diseaseC0473583 | 11439001-6#156#165#geners139211763 | 11439001-6#275#299#diseaseC0473583 | associated_with | c.960delC,pseudoxanthoma elasticum |
| 156#165#geners139211763275#299#diseaseC0033847 | 11439001-6#156#165#geners139211763 | 11439001-6#275#299#diseaseC0033847 | associated_with | c.960delC,pseudoxanthoma elasticum |
| 156#165#geners139211763275#299#diseaseC0473583 | 11439001-6#156#165#geners139211763 | 11439001-6#275#299#diseaseC0473583 | associated_with | c.960delC,pseudoxanthoma elasticum |
| 156#165#geners72664226275#299#diseaseC0033847 | 11439001-6#156#165#geners72664226 | 11439001-6#275#299#diseaseC0033847 | associated_with | c.960delC,pseudoxanthoma elasticum |
| 156#165#geners72664226275#299#diseaseC0473583 | 11439001-6#156#165#geners72664226 | 11439001-6#275#299#diseaseC0473583 | associated_with | c.960delC,pseudoxanthoma elasticum |
| 156#165#geners72664226275#299#diseaseC0033847 | 11439001-6#156#165#geners72664226 | 11439001-6#275#299#diseaseC0033847 | associated_with | c.960delC,pseudoxanthoma elasticum |
| 156#165#geners72664226275#299#diseaseC0473583 | 11439001-6#156#165#geners72664226 | 11439001-6#275#299#diseaseC0473583 | associated_with | c.960delC,pseudoxanthoma elasticum |
| 156#165#geners72664226275#299#diseaseC0033847 | 11439001-6#156#165#geners72664226 | 11439001-6#275#299#diseaseC0033847 | associated_with | c.960delC,pseudoxanthoma elasticum |
| 156#165#geners72664226275#299#diseaseC0473583 | 11439001-6#156#165#geners72664226 | 11439001-6#275#299#diseaseC0473583 | associated_with | c.960delC,pseudoxanthoma elasticum |
| 156#165#geners72664226275#299#diseaseC0033847 | 11439001-6#156#165#geners72664226 | 11439001-6#275#299#diseaseC0033847 | associated_with | c.960delC,pseudoxanthoma elasticum |
| 156#165#geners72664226275#299#diseaseC0473583 | 11439001-6#156#165#geners72664226 | 11439001-6#275#299#diseaseC0473583 | associated_with | c.960delC,pseudoxanthoma elasticum |
| 156#165#geners72664226275#299#diseaseC0033847 | 11439001-6#156#165#geners72664226 | 11439001-6#275#299#diseaseC0033847 | associated_with | c.960delC,pseudoxanthoma elasticum |
| 156#165#geners72664226275#299#diseaseC0473583 | 11439001-6#156#165#geners72664226 | 11439001-6#275#299#diseaseC0473583 | associated_with | c.960delC,pseudoxanthoma elasticum |
| 124#129#geners72650700275#299#diseaseC0033847 | 11439001-6#124#129#geners72650700 | 11439001-6#275#299#diseaseC0033847 | associated_with | R518X,pseudoxanthoma elasticum |
| 124#129#geners72650700275#299#diseaseC0473583 | 11439001-6#124#129#geners72650700 | 11439001-6#275#299#diseaseC0473583 | associated_with | R518X,pseudoxanthoma elasticum |
| 124#129#geners72650700275#299#diseaseC0033847 | 11439001-6#124#129#geners72650700 | 11439001-6#275#299#diseaseC0033847 | associated_with | R518X,pseudoxanthoma elasticum |
| 124#129#geners72650700275#299#diseaseC0473583 | 11439001-6#124#129#geners72650700 | 11439001-6#275#299#diseaseC0473583 | associated_with | R518X,pseudoxanthoma elasticum |
| 124#129#geners72650700275#299#diseaseC0033847 | 11439001-6#124#129#geners72650700 | 11439001-6#275#299#diseaseC0033847 | associated_with | R518X,pseudoxanthoma elasticum |
| 124#129#geners72650700275#299#diseaseC0473583 | 11439001-6#124#129#geners72650700 | 11439001-6#275#299#diseaseC0473583 | associated_with | R518X,pseudoxanthoma elasticum |
| 124#129#geners72650700275#299#diseaseC0033847 | 11439001-6#124#129#geners72650700 | 11439001-6#275#299#diseaseC0033847 | associated_with | R518X,pseudoxanthoma elasticum |
| 124#129#geners72650700275#299#diseaseC0473583 | 11439001-6#124#129#geners72650700 | 11439001-6#275#299#diseaseC0473583 | associated_with | R518X,pseudoxanthoma elasticum |
| 124#129#geners72650700275#299#diseaseC0033847 | 11439001-6#124#129#geners72650700 | 11439001-6#275#299#diseaseC0033847 | associated_with | R518X,pseudoxanthoma elasticum |
| 124#129#geners72650700275#299#diseaseC0473583 | 11439001-6#124#129#geners72650700 | 11439001-6#275#299#diseaseC0473583 | associated_with | R518X,pseudoxanthoma elasticum |
DisGeNET5_gene_disease
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| 11439001-0#96#101#gene4363 | 96-101 | gene4363 | denotes | ABCC1 |
| 11439001-0#106#111#gene4629 | 106-111 | gene4629 | denotes | MYH11 |
| 11439001-0#0#24#diseaseC0033847 | 0-24 | diseaseC0033847 | denotes | Pseudoxanthoma elasticum |
| 11439001-0#0#24#diseaseC0473583 | 0-24 | diseaseC0473583 | denotes | Pseudoxanthoma elasticum |
| 11439001-0#0#24#diseaseC0033847 | 0-24 | diseaseC0033847 | denotes | Pseudoxanthoma elasticum |
| 11439001-0#0#24#diseaseC0473583 | 0-24 | diseaseC0473583 | denotes | Pseudoxanthoma elasticum |
| 11439001-6#180#185#gene368 | 1042-1047 | gene368 | denotes | ABCC6 |
| 11439001-6#187#191#gene368 | 1049-1053 | gene368 | denotes | MRP6 |
| 11439001-6#275#299#diseaseC0033847 | 1137-1161 | diseaseC0033847 | denotes | pseudoxanthoma elasticum |
| 11439001-6#275#299#diseaseC0473583 | 1137-1161 | diseaseC0473583 | denotes | pseudoxanthoma elasticum |
| 11439001-6#275#299#diseaseC0033847 | 1137-1161 | diseaseC0033847 | denotes | pseudoxanthoma elasticum |
| 11439001-6#275#299#diseaseC0473583 | 1137-1161 | diseaseC0473583 | denotes | pseudoxanthoma elasticum |
| 96#101#gene43630#24#diseaseC0033847 | 11439001-0#96#101#gene4363 | 11439001-0#0#24#diseaseC0033847 | associated_with | ABCC1,Pseudoxanthoma elasticum |
| 96#101#gene43630#24#diseaseC0473583 | 11439001-0#96#101#gene4363 | 11439001-0#0#24#diseaseC0473583 | associated_with | ABCC1,Pseudoxanthoma elasticum |
| 96#101#gene43630#24#diseaseC0033847 | 11439001-0#96#101#gene4363 | 11439001-0#0#24#diseaseC0033847 | associated_with | ABCC1,Pseudoxanthoma elasticum |
| 96#101#gene43630#24#diseaseC0473583 | 11439001-0#96#101#gene4363 | 11439001-0#0#24#diseaseC0473583 | associated_with | ABCC1,Pseudoxanthoma elasticum |
| 106#111#gene46290#24#diseaseC0033847 | 11439001-0#106#111#gene4629 | 11439001-0#0#24#diseaseC0033847 | associated_with | MYH11,Pseudoxanthoma elasticum |
| 106#111#gene46290#24#diseaseC0473583 | 11439001-0#106#111#gene4629 | 11439001-0#0#24#diseaseC0473583 | associated_with | MYH11,Pseudoxanthoma elasticum |
| 106#111#gene46290#24#diseaseC0033847 | 11439001-0#106#111#gene4629 | 11439001-0#0#24#diseaseC0033847 | associated_with | MYH11,Pseudoxanthoma elasticum |
| 106#111#gene46290#24#diseaseC0473583 | 11439001-0#106#111#gene4629 | 11439001-0#0#24#diseaseC0473583 | associated_with | MYH11,Pseudoxanthoma elasticum |
| 180#185#gene368275#299#diseaseC0033847 | 11439001-6#180#185#gene368 | 11439001-6#275#299#diseaseC0033847 | associated_with | ABCC6,pseudoxanthoma elasticum |
| 180#185#gene368275#299#diseaseC0473583 | 11439001-6#180#185#gene368 | 11439001-6#275#299#diseaseC0473583 | associated_with | ABCC6,pseudoxanthoma elasticum |
| 180#185#gene368275#299#diseaseC0033847 | 11439001-6#180#185#gene368 | 11439001-6#275#299#diseaseC0033847 | associated_with | ABCC6,pseudoxanthoma elasticum |
| 180#185#gene368275#299#diseaseC0473583 | 11439001-6#180#185#gene368 | 11439001-6#275#299#diseaseC0473583 | associated_with | ABCC6,pseudoxanthoma elasticum |
| 187#191#gene368275#299#diseaseC0033847 | 11439001-6#187#191#gene368 | 11439001-6#275#299#diseaseC0033847 | associated_with | MRP6,pseudoxanthoma elasticum |
| 187#191#gene368275#299#diseaseC0473583 | 11439001-6#187#191#gene368 | 11439001-6#275#299#diseaseC0473583 | associated_with | MRP6,pseudoxanthoma elasticum |
| 187#191#gene368275#299#diseaseC0033847 | 11439001-6#187#191#gene368 | 11439001-6#275#299#diseaseC0033847 | associated_with | MRP6,pseudoxanthoma elasticum |
| 187#191#gene368275#299#diseaseC0473583 | 11439001-6#187#191#gene368 | 11439001-6#275#299#diseaseC0473583 | associated_with | MRP6,pseudoxanthoma elasticum |
PubCasesHPO
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| AB1 | 305-324 | HP:0000573 | denotes | retinal hemorrhages |
| AB2 | 337-357 | HP:0000608 | denotes | macular degeneration |
sentences
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| TextSentencer_T1 | 0-25 | Sentence | denotes | Pseudoxanthoma elasticum: |
| TextSentencer_T2 | 26-112 | Sentence | denotes | Point mutations in the ABCC6 gene and a large deletion including also ABCC1 and MYH11. |
| TextSentencer_T3 | 113-247 | Sentence | denotes | Pseudoxanthoma elasticum (PXE) is a mendelian disorder characterized by calcification of elastic fibers in skin, arteries, and retina. |
| TextSentencer_T4 | 248-358 | Sentence | denotes | It results in dermal lesions, arterial insufficiency and retinal hemorrhages, leading to macular degeneration. |
| TextSentencer_T5 | 359-475 | Sentence | denotes | PXE is transmitted either as an autosomal dominant or recessive trait and several sporadic cases have been observed. |
| TextSentencer_T6 | 476-551 | Sentence | denotes | Mutations in the ABCC6 gene have been identified very recently in patients. |
| TextSentencer_T7 | 552-861 | Sentence | denotes | Here, we report on a large Italian family affected by pseudoxanthoma elasticum for which linkage analysis had pointed to a region encompassing markers D16S3069-D16S405-D16S3103; hemizygosity of marker D16S405 allowed us to detect a submicroscopic deletion of at least 900 kb involving ABCC6, ABCC1, and MYH11. |
| TextSentencer_T8 | 862-1162 | Sentence | denotes | Mutation analysis on the other allele of the family, as well as on two additional sporadic cases, revealed nonsense (Y227X, R518X, R1164X) and frame-shift (c.960delC) mutations in ABCC6 (MRP6) further confirming the role of this multi-drug resistance gene in the etiology of pseudoxanthoma elasticum. |
| TextSentencer_T9 | 1163-1346 | Sentence | denotes | Furthermore, clinical re-examination of members of the family harboring the deletion led to the detection of additional features, potentially caused by the deletion of the MYH11 gene. |
| TextSentencer_T10 | 1347-1425 | Sentence | denotes | In the course of the analysis five nonpathogenic variants were found in ABCC6: |
| TextSentencer_T11 | 1426-1486 | Sentence | denotes | 1233T>C, 1245G>A, 1838 T>G (V614A), 1890C>G, and 3506+83C>A. |
| TextSentencer_T12 | 1487-1509 | Sentence | denotes | Hum Mutat 18:85, 2001. |
| T1 | 0-25 | Sentence | denotes | Pseudoxanthoma elasticum: |
| T2 | 26-112 | Sentence | denotes | Point mutations in the ABCC6 gene and a large deletion including also ABCC1 and MYH11. |
| T3 | 113-247 | Sentence | denotes | Pseudoxanthoma elasticum (PXE) is a mendelian disorder characterized by calcification of elastic fibers in skin, arteries, and retina. |
| T4 | 248-358 | Sentence | denotes | It results in dermal lesions, arterial insufficiency and retinal hemorrhages, leading to macular degeneration. |
| T5 | 359-475 | Sentence | denotes | PXE is transmitted either as an autosomal dominant or recessive trait and several sporadic cases have been observed. |
| T6 | 476-551 | Sentence | denotes | Mutations in the ABCC6 gene have been identified very recently in patients. |
| T7 | 552-861 | Sentence | denotes | Here, we report on a large Italian family affected by pseudoxanthoma elasticum for which linkage analysis had pointed to a region encompassing markers D16S3069-D16S405-D16S3103; hemizygosity of marker D16S405 allowed us to detect a submicroscopic deletion of at least 900 kb involving ABCC6, ABCC1, and MYH11. |
| T8 | 862-1162 | Sentence | denotes | Mutation analysis on the other allele of the family, as well as on two additional sporadic cases, revealed nonsense (Y227X, R518X, R1164X) and frame-shift (c.960delC) mutations in ABCC6 (MRP6) further confirming the role of this multi-drug resistance gene in the etiology of pseudoxanthoma elasticum. |
| T9 | 1163-1346 | Sentence | denotes | Furthermore, clinical re-examination of members of the family harboring the deletion led to the detection of additional features, potentially caused by the deletion of the MYH11 gene. |
| T10 | 1347-1425 | Sentence | denotes | In the course of the analysis five nonpathogenic variants were found in ABCC6: |
| T11 | 1426-1486 | Sentence | denotes | 1233T>C, 1245G>A, 1838 T>G (V614A), 1890C>G, and 3506+83C>A. |
| T12 | 1487-1509 | Sentence | denotes | Hum Mutat 18:85, 2001. |
UBERON-AE
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| PD-UBERON-AE-B_T1 | 226-234 | http://purl.obolibrary.org/obo/UBERON_0001637 | denotes | arteries |
| PD-UBERON-AE-B_T2 | 278-286 | http://purl.obolibrary.org/obo/UBERON_0001637 | denotes | arterial |
| PD-UBERON-AE-B_T3 | 240-246 | http://purl.obolibrary.org/obo/UBERON_0000966 | denotes | retina |
PubCasesORDO
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| AB1 | 113-137 | ORDO:758 | denotes | Pseudoxanthoma elasticum |
| AB2 | 139-142 | ORDO:758 | denotes | PXE |
| AB3 | 359-362 | ORDO:758 | denotes | PXE |
| AB4 | 606-630 | ORDO:758 | denotes | pseudoxanthoma elasticum |
| AB5 | 1137-1161 | ORDO:758 | denotes | pseudoxanthoma elasticum |
performance-test
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| PD-UBERON-AE-B_T1 | 226-234 | http://purl.obolibrary.org/obo/UBERON_0001637 | denotes | arteries |
| PD-UBERON-AE-B_T2 | 278-286 | http://purl.obolibrary.org/obo/UBERON_0001637 | denotes | arterial |
| PD-UBERON-AE-B_T3 | 240-246 | http://purl.obolibrary.org/obo/UBERON_0000966 | denotes | retina |
DisGeNET
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T0 | 106-111 | gene:4629 | denotes | MYH11 |
| T1 | 0-24 | disease:C0473583 | denotes | Pseudoxanthoma elasticum |
| T2 | 106-111 | gene:4629 | denotes | MYH11 |
| T3 | 0-24 | disease:C0033847 | denotes | Pseudoxanthoma elasticum |
| T4 | 96-101 | gene:4363 | denotes | ABCC1 |
| T5 | 0-24 | disease:C0033847 | denotes | Pseudoxanthoma elasticum |
| T6 | 96-101 | gene:4363 | denotes | ABCC1 |
| T7 | 0-24 | disease:C0473583 | denotes | Pseudoxanthoma elasticum |
| T8 | 837-842 | gene:368 | denotes | ABCC6 |
| T9 | 606-630 | disease:C0033847 | denotes | pseudoxanthoma elasticum |
| T10 | 837-842 | gene:368 | denotes | ABCC6 |
| T11 | 606-630 | disease:C0473583 | denotes | pseudoxanthoma elasticum |
| T12 | 1049-1053 | gene:368 | denotes | MRP6 |
| T13 | 1137-1161 | disease:C0473583 | denotes | pseudoxanthoma elasticum |
| T14 | 1049-1053 | gene:368 | denotes | MRP6 |
| T15 | 1137-1161 | disease:C0033847 | denotes | pseudoxanthoma elasticum |
| T16 | 1042-1047 | gene:368 | denotes | ABCC6 |
| T17 | 1137-1161 | disease:C0473583 | denotes | pseudoxanthoma elasticum |
| T18 | 1042-1047 | gene:368 | denotes | ABCC6 |
| T19 | 1137-1161 | disease:C0033847 | denotes | pseudoxanthoma elasticum |
| R1 | T0 | T1 | associated_with | MYH11,Pseudoxanthoma elasticum |
| R2 | T2 | T3 | associated_with | MYH11,Pseudoxanthoma elasticum |
| R3 | T4 | T5 | associated_with | ABCC1,Pseudoxanthoma elasticum |
| R4 | T6 | T7 | associated_with | ABCC1,Pseudoxanthoma elasticum |
| R5 | T8 | T9 | associated_with | ABCC6,pseudoxanthoma elasticum |
| R6 | T10 | T11 | associated_with | ABCC6,pseudoxanthoma elasticum |
| R7 | T12 | T13 | associated_with | MRP6,pseudoxanthoma elasticum |
| R8 | T14 | T15 | associated_with | MRP6,pseudoxanthoma elasticum |
| R9 | T16 | T17 | associated_with | ABCC6,pseudoxanthoma elasticum |
| R10 | T18 | T19 | associated_with | ABCC6,pseudoxanthoma elasticum |