| Id |
Subject |
Object |
Predicate |
Lexical cue |
db_id |
| 6142 |
25-33 |
GeneOrGeneProduct |
denotes |
meckelin |
NCBIGene:91147 |
| 6143 |
35-39 |
GeneOrGeneProduct |
denotes |
MKS3 |
NCBIGene:91147 |
| 6144 |
40-46 |
GeneOrGeneProduct |
denotes |
TMEM67 |
NCBIGene:91147 |
| 6145 |
54-90 |
DiseaseOrPhenotypicFeature |
denotes |
nephronophthisis with liver fibrosis |
OMIM:613550 |
| 6146 |
92-98 |
DiseaseOrPhenotypicFeature |
denotes |
NPHP11 |
OMIM:613550 |
| 6147 |
113-129 |
DiseaseOrPhenotypicFeature |
denotes |
Nephronophthisis |
MESH:C537699 |
| 6148 |
131-135 |
DiseaseOrPhenotypicFeature |
denotes |
NPHP |
MESH:C537699 |
| 6149 |
155-176 |
DiseaseOrPhenotypicFeature |
denotes |
cystic kidney disease |
MESH:D052177 |
| 6150 |
216-237 |
DiseaseOrPhenotypicFeature |
denotes |
chronic renal failure |
MESH:D007676 |
| 6151 |
293-300 |
GeneOrGeneProduct |
denotes |
NPHP1-9 |
NCBIGene:23322|NCBIGene:261734|NCBIGene:27031|NCBIGene:27130|NCBIGene:284086|NCBIGene:4867|NCBIGene:80184|NCBIGene:84662|NCBIGene:9657 |
| 6152 |
324-328 |
DiseaseOrPhenotypicFeature |
denotes |
NPHP |
MESH:C537699 |
| 6153 |
352-372 |
DiseaseOrPhenotypicFeature |
denotes |
retinal degeneration |
MESH:D012162 |
| 6154 |
374-395 |
DiseaseOrPhenotypicFeature |
denotes |
Senior-Løken syndrome |
MESH:C537580 |
| 6155 |
412-432 |
DiseaseOrPhenotypicFeature |
denotes |
cerebellar anomalies |
MESH:D002526 |
| 6156 |
434-450 |
DiseaseOrPhenotypicFeature |
denotes |
Joubert syndrome |
MESH:C536293 |
| 6157 |
456-470 |
DiseaseOrPhenotypicFeature |
denotes |
liver fibrosis |
MESH:D008103 |
| 6158 |
528-536 |
OrganismTaxon |
denotes |
patients |
NCBITaxon:9606 |
| 6159 |
553-567 |
DiseaseOrPhenotypicFeature |
denotes |
liver fibrosis |
MESH:D008103 |
| 6160 |
667-675 |
OrganismTaxon |
denotes |
patients |
NCBITaxon:9606 |
| 6161 |
915-919 |
GeneOrGeneProduct |
denotes |
MKS3 |
NCBIGene:91147 |
| 6162 |
920-926 |
GeneOrGeneProduct |
denotes |
TMEM67 |
NCBIGene:91147 |
| 6163 |
980-988 |
OrganismTaxon |
denotes |
patients |
NCBITaxon:9606 |
| 6164 |
994-998 |
DiseaseOrPhenotypicFeature |
denotes |
NPHP |
MESH:C537699 |
| 6165 |
1014-1028 |
DiseaseOrPhenotypicFeature |
denotes |
liver fibrosis |
MESH:D008103 |
| 6166 |
1076-1083 |
SequenceVariant |
denotes |
p.W290L |
DBSNP:rs267607117 |
| 6167 |
1085-1092 |
SequenceVariant |
denotes |
p.C615R |
DBSNP:rs201893408 |
| 6168 |
1094-1101 |
SequenceVariant |
denotes |
p.G821S |
DBSNP:rs267607116 |
| 6169 |
1107-1114 |
SequenceVariant |
denotes |
p.G821R |
DBSNP:rs267607116 |
| 6170 |
1146-1150 |
GeneOrGeneProduct |
denotes |
MKS3 |
NCBIGene:91147 |
| 6171 |
1151-1157 |
GeneOrGeneProduct |
denotes |
TMEM67 |
NCBIGene:91147 |
| 6172 |
1177-1212 |
DiseaseOrPhenotypicFeature |
denotes |
Meckel-Gruber syndrome (MKS) type 3 |
MESH:C536132 |
| 6173 |
1217-1247 |
DiseaseOrPhenotypicFeature |
denotes |
Joubert syndrome (JBTS) type 6 |
MESH:C537689 |
| 6174 |
1333-1341 |
OrganismTaxon |
denotes |
patients |
NCBITaxon:9606 |
| 6175 |
1347-1351 |
DiseaseOrPhenotypicFeature |
denotes |
NPHP |
MESH:C537699 |
| 6176 |
1367-1381 |
DiseaseOrPhenotypicFeature |
denotes |
liver fibrosis |
MESH:D008103 |
| 6177 |
1537-1540 |
DiseaseOrPhenotypicFeature |
denotes |
MKS |
MESH:C536133 |
| 6178 |
1544-1548 |
DiseaseOrPhenotypicFeature |
denotes |
JBTS |
MESH:C536293 |
| 6179 |
1596-1600 |
GeneOrGeneProduct |
denotes |
MKS3 |
NCBIGene:91147 |
| 6180 |
1601-1607 |
GeneOrGeneProduct |
denotes |
TMEM67 |
NCBIGene:91147 |
| 6181 |
1615-1623 |
OrganismTaxon |
denotes |
patients |
NCBITaxon:9606 |
| 6182 |
1629-1633 |
DiseaseOrPhenotypicFeature |
denotes |
JBTS |
MESH:C536293 |
| 6183 |
1689-1697 |
OrganismTaxon |
denotes |
patients |
NCBITaxon:9606 |
| 6184 |
1743-1757 |
DiseaseOrPhenotypicFeature |
denotes |
liver fibrosis |
MESH:D008103 |
| 6185 |
1784-1788 |
GeneOrGeneProduct |
denotes |
MKS3 |
NCBIGene:91147 |
| 6186 |
1789-1795 |
GeneOrGeneProduct |
denotes |
TMEM67 |
NCBIGene:91147 |
| 6187 |
1812-1836 |
DiseaseOrPhenotypicFeature |
denotes |
NPHP with liver fibrosis |
OMIM:613550 |
| 6188 |
1838-1844 |
DiseaseOrPhenotypicFeature |
denotes |
NPHP11 |
OMIM:613550 |
| 6189 |
1875-1879 |
GeneOrGeneProduct |
denotes |
MKS3 |
NCBIGene:91147 |
| 6190 |
1893-1901 |
OrganismTaxon |
denotes |
patients |
NCBITaxon:9606 |
| 6191 |
1964-1968 |
DiseaseOrPhenotypicFeature |
denotes |
NPHP |
MESH:C537699 |
| 6192 |
1970-1974 |
DiseaseOrPhenotypicFeature |
denotes |
JBTS |
MESH:C536293 |
| 6193 |
1980-1983 |
DiseaseOrPhenotypicFeature |
denotes |
MKS |
MESH:C536133 |
| 6194 |
1994-2011 |
DiseaseOrPhenotypicFeature |
denotes |
allelic disorders |
MESH:D030342 |
