| Id |
Subject |
Object |
Predicate |
Lexical cue |
db_id |
| 4432 |
0-23 |
DiseaseOrPhenotypicFeature |
denotes |
Focal dermal hypoplasia |
MESH:D005489 |
| 4433 |
64-71 |
SequenceVariant |
denotes |
p.E300X |
p|SUB|E|300|X |
| 4434 |
80-85 |
GeneOrGeneProduct |
denotes |
PORCN |
NCBIGene:64840 |
| 4435 |
104-127 |
DiseaseOrPhenotypicFeature |
denotes |
Focal dermal hypoplasia |
MESH:D005489 |
| 4436 |
129-132 |
DiseaseOrPhenotypicFeature |
denotes |
FDH |
MESH:D005489 |
| 4437 |
135-146 |
DiseaseOrPhenotypicFeature |
denotes |
OMIM 305600 |
MESH:D005489 |
| 4438 |
154-180 |
DiseaseOrPhenotypicFeature |
denotes |
X-linked dominant disorder |
MESH:D040181 |
| 4439 |
227-241 |
DiseaseOrPhenotypicFeature |
denotes |
Goltz syndrome |
MESH:D005489 |
| 4440 |
243-246 |
DiseaseOrPhenotypicFeature |
denotes |
FDH |
MESH:D005489 |
| 4441 |
294-312 |
DiseaseOrPhenotypicFeature |
denotes |
hypoplastic dermis |
MESH:D005489 |
| 4442 |
408-411 |
DiseaseOrPhenotypicFeature |
denotes |
FDH |
MESH:D005489 |
| 4443 |
438-443 |
GeneOrGeneProduct |
denotes |
PORCN |
NCBIGene:64840 |
| 4444 |
633-636 |
DiseaseOrPhenotypicFeature |
denotes |
FDH |
MESH:D005489 |
| 4445 |
691-700 |
DiseaseOrPhenotypicFeature |
denotes |
depressed |
MESH:D003866 |
| 4446 |
814-827 |
DiseaseOrPhenotypicFeature |
denotes |
dental caries |
MESH:D003731 |
| 4447 |
997-1002 |
GeneOrGeneProduct |
denotes |
PORCN |
NCBIGene:64840 |
| 4448 |
1058-1094 |
SequenceVariant |
denotes |
G>T substitution at nucleotide c.898 |
c|SUB|G|898|T |
| 4449 |
1138-1204 |
SequenceVariant |
denotes |
glutamic acid residue (GAA) to a premature termination codon (TAA) |
p|SUB|E||X |
| 4450 |
1232-1239 |
SequenceVariant |
denotes |
p.E300X |
p|SUB|E|300|X |
| 4451 |
1406-1409 |
DiseaseOrPhenotypicFeature |
denotes |
FDH |
MESH:D005489 |
| 4452 |
1466-1471 |
GeneOrGeneProduct |
denotes |
PORCN |
NCBIGene:64840 |
