eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| congenital ptosis | ||||
| Disease ID | 1350 |
|---|---|
| Disease | congenital ptosis |
| Definition | The drooping of the upper or lower eyelid that is present at the time of birth. |
| Synonym | congenital blepharoptosis congenital drooping upper eyelid congenital eyelid ptosis congenital ptosis (disorder) congenital ptosis of eyelid congenital ptosis of upper eyelid congenital ptosis of upper eyelid (disorder) congenital ptosis, nos eyelid congenital upper ptosis ptosis congenital |
| Orphanet | |
| DOID | |
| ICD10 | |
| UMLS | C0266573 |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:7) C0038379 | strabismus | 2 C0002418 | amblyopia | 2 C0220708 | vater association | 1 C0175713 | aicardi syndrome | 1 C0005745 | ptosis | 1 C0034951 | refractive error | 1 C0018552 | hamartoma | 1 |
| Curated Gene | (Waiting for update.) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:29) 60529 | ALX4 | 2.858 | DISEASES 84334 | APOPT1 | 3.585 | DISEASES 1066 | CES1 | 2.451 | DISEASES 55636 | CHD7 | 2.008 | DISEASES 1123 | CHN1 | 4.978 | DISEASES 84570 | COL25A1 | 3.907 | DISEASES 8292 | COLQ | 3.099 | DISEASES 1538 | CYLC1 | 2.894 | DISEASES 1805 | DPT | 3.217 | DISEASES 2081 | ERN1 | 2.22 | DISEASES 2132 | EXT2 | 2.139 | DISEASES 2303 | FOXC2 | 2.275 | DISEASES 668 | FOXL2 | 3.215 | DISEASES 2643 | GCH1 | 1.922 | DISEASES 3339 | HSPG2 | 1.546 | DISEASES 10581 | IFITM2 | 2.55 | DISEASES 3547 | IGSF1 | 1.77 | DISEASES 55605 | KIF21A | 4.314 | DISEASES 54900 | LAX1 | 2.031 | DISEASES 4151 | MB | 1.002 | DISEASES 55777 | MBD5 | 5.827 | DISEASES 4549 | MT-RNR1 | 3.007 | DISEASES 8481 | OFD1 | 2.892 | DISEASES 5080 | PAX6 | 3.386 | DISEASES 64221 | ROBO3 | 3.087 | DISEASES 6261 | RYR1 | 2.962 | DISEASES 10381 | TUBB3 | 2.106 | DISEASES 7490 | WT1 | 1.646 | DISEASES 79776 | ZFHX4 | 3.901 | DISEASES |
| Locus | Symbol | Locus(Total Locus:1) COL25A1 | 4q25 |
| Disease ID | 1350 |
|---|---|
| Disease | congenital ptosis |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:5) HP:0000646 | Wandering eyes | 2 HP:0000486 | Squint eyes | 2 HP:0000505 | Poor vision | 1 HP:0000508 | Drooping upper eyelid | 1 HP:0010566 | Hamartoma | 1 |
| Disease ID | 1350 |
|---|---|
| Disease | congenital ptosis |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:1) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs151086737 | 23734086 | 5080 | PAX6 | umls:C0266573 | BeFree | The mutation (c.362C>T, p.Ser121Leu) in the PAX6 gene was first identified in a patient with aniridia with congenital ptosis. | 0.000542884 | 2013 | PAX6 | 11 | 31800714 | G | A |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:0) |
|---|
| (Waiting for update.) |
Mapped by homologous gene(Total Items:0) |
|---|
| (Waiting for update.) |
| Disease ID | 1350 |
|---|---|
| Disease | congenital ptosis |
| Case | (Waiting for update.) |