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DTHD1 and primary congenital glaucoma are reported together in 1 article.
Gene
DTHD1
- HGNC
- HGNC:37261
2articles
2mentions
0variants with confirmed gene link
Most co-reported phenotypes (articles)
Phenotype
Primary congenital glaucoma
70articles
70mentions
12co-reported genes shown
Most co-reported genes (articles)
Counts are literature co-mentions in SaudiVarKB, not clinical or causal assertions. Gene details: HGNC; variant status: ClinVar via dbSNP.
Publications
1 records shown · first 60Molecular Karyotyping of a Dysmorphic Girl from Saudi Arabia with CYP1B1-negative Primary Congenital Glaucoma.
PMID 24911043 | DOI 10.3109/13816810.2014.924017 · Ophthalmic genetics · 2016 · 4 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | DTHD1 | “Array CGH revealed 2 de novo 7p heterozygous duplications (7p21 - 7p14, encompassing 223 genes, and 7p14-7p11.2, encompassing 225 genes) and a 4p homozygous microdeletion (4p14) encompassing one gene only, DTHD1.” | 0.98 | hgnc_dict_v1 |
| phenotype | primary congenital glaucoma | “Molecular Karyotyping of a Dysmorphic Girl from Saudi Arabia with CYP1B1-negative Primary Congenital Glaucoma.” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | CYP1B1 | “METHODS: CYP1B1 sequencing in the affected child; high-resolution array comparative genomic hybridization (array CGH) of the affected child and both unaffected parents (Affymetrix Cytogenetics Whole-Genome 2.7M array; Affymetrix Inc., Santa Clara, CA, USA).” | 0.98 | hgnc_dict_v1 |
| population | Saudi Arabia | “Molecular Karyotyping of a Dysmorphic Girl from Saudi Arabia with CYP1B1-negative Primary Congenital Glaucoma. PURPOSE: To report the results of molecular karyotyping for a dysmorphic girl with CYP1B1-negative primary congenital glaucoma from Saudi Arabia, where CYPB1 mutations account for over 90% of cases of primary congenital glaucoma and the remaining cases are idiopathic. CONCLUSIONS: The fact that this dysmorphic girl is Saudi Arabian and has CYP1B1-negative primary congenital glaucoma suggests that her glaucoma phenotype is related to her de novo copy number variation.” | 0.95 | saudi_context_rules_v1 |