Dataset Viewer
id
string | patient
dict | question
string | answer
string | answer_type
string | category
string | sub_category
string | rationale
string |
|---|---|---|---|---|---|---|---|
AITX-00001
|
{
"clinical_context": "Progressive muscle weakness",
"genotype": [
{
"gene": "DMD",
"protein_hgvs": "p.(Thr2516_Ala3096del)",
"transcript": "NM_004006.2",
"variant_hgvs": "c.7544_9286del",
"zygosity": "hemizygous"
}
]
}
|
To which of the following targeted therapies would this variant be most likely amenable: Golodirsen, Viltolarsen, Eteplirsen, Casimersen, Ataluren, or None?
|
Eteplirsen
|
multipleChoice
|
Established_Targeted
|
ASO
|
Variant results in deletion of exons 52-63, which is listed as amenable to exon 51 skipping
|
AITX-00002
|
{
"clinical_context": "Progressive muscle weakness",
"genotype": [
{
"gene": "DMD",
"protein_hgvs": "p.(Leu3485Ter)",
"transcript": "NM_004006.2",
"variant_hgvs": "c.10453_10454delinsTA",
"zygosity": "hemizygous"
}
]
}
|
To which of the following targeted therapies would this variant be most likely amenable: Golodirsen, Viltolarsen, Eteplirsen, Casimersen, Ataluren, or None?
|
Ataluren
|
multipleChoice
|
Established_Targeted
|
Small Molecule
|
Variant results in a nonsense in exon 74, which is amenable to nonsense readthrough
|
AITX-00003
|
{
"clinical_context": "Progressive muscle weakness",
"genotype": [
{
"gene": "DMD",
"protein_hgvs": "p.(Trp24Arg)",
"transcript": "NM_004006.2",
"variant_hgvs": "c.70T>C",
"zygosity": "hemizygous"
}
]
}
|
To which of the following targeted therapies would this variant be most likely amenable: Eteplirsen, Golodirsen, Viltolarsen, Casimersen, Ataluren, or None?
|
None
|
multipleChoice
|
Established_Targeted
|
ASOs
|
Results in a missense in exon 2, which is not amenable to nonsense readthrough and is upstream from skippable exons
|
AITX-00004
|
{
"clinical_context": "Recurrent nephrocalcinosis and chronic kidney disease",
"genotype": [
{
"gene": "AGXT",
"protein_hgvs": "p.(Gly170Arg)",
"transcript": "NM_000030.3",
"variant_hgvs": "c.508G>A",
"zygosity": "homozygous"
}
]
}
|
What targeted, small molecule therapy is available for this patient? Provide the generic name or None.
|
Pyridoxine
|
exactMatch
|
Established_Targeted
|
Small Molecule
|
Missense variants are amenable to pyridoxine treatment https://www.ncbi.nlm.nih.gov/books/NBK1283/
|
AITX-00005
|
{
"clinical_context": "Recurrent nephrocalcinosis and chronic kidney disease",
"genotype": [
{
"gene": "AGXT",
"protein_hgvs": "p.(Lys12GlnfsTer156)",
"transcript": "NM_000030.3",
"variant_hgvs": "c.33dup",
"zygosity": "homozygous"
}
]
}
|
Is this patient predicted to be responsive to pyridoxine? Answer yes or no.
|
No
|
exactMatch
|
Established_Targeted
|
Small Molecule
|
Pyridoxine is not effective for patients with null variants https://www.ncbi.nlm.nih.gov/books/NBK1283/
|
AITX-00006
|
{
"clinical_context": "7 year old with recurrent nephrocalcinosis and chronic kidney disease",
"genotype": [
{
"gene": "AGXT",
"protein_hgvs": "p.(Lys12GlnfsTer156)",
"transcript": "NM_000030.3",
"variant_hgvs": "c.33dup",
"zygosity": "homozygous"
}
]
}
|
What targeted, genetic therapies are approved for this patient in the US? Provide the generic name.
|
Lumasiran
|
exactMatch
|
Established_Targeted
|
siRNA
|
Lumasiran is approved for patients of all ages whereas Nedosiran is only approved for patients age >9. https://www.ncbi.nlm.nih.gov/books/NBK1283/
|
AITX-00007
|
{
"clinical_context": "Global developmental delay",
"genotype": [
{
"gene": "DDC",
"protein_hgvs": "p.(Gly96Arg)",
"transcript": "NM_001082971.2",
"variant_hgvs": "c.286G>A",
"zygosity": "homozygous"
}
]
}
|
What is the youngest age for which a gene therapy is approved for this patient's genetic condition in the united kingdom? Answer with the format "X months".
|
18 months
|
exactMatch
|
Established_Targeted
|
Gene Therapy
|
https://www.ncbi.nlm.nih.gov/books/NBK595821/
|
AITX-00008
|
{
"clinical_context": "joint hypermobility, skin hyperextensibility, and easy bruising",
"genotype": [
{
"gene": "COL1A1",
"protein_hgvs": "p.(Gly560Ser)",
"transcript": "NM_000088.4",
"variant_hgvs": "c.1678G>A",
"zygosity": "heterozygous"
}
]
}
|
What two medications are most established for decreasing bruising? List generic names in alphabetical order
|
ascorbic acid, desmopressin
|
exactMatch
|
Established_Supportive
|
Treatment_Identification
|
https://www.ncbi.nlm.nih.gov/books/NBK1244/#eds.Management
|
AITX-00009
|
{
"clinical_context": "Patient with SLC35A2-CDG who is experiencing seizures and global developmental delay",
"genotype": [
{
"gene": "SLC35A2",
"protein_hgvs": "p.Met1Ile",
"transcript": "NM_005660.3",
"variant_hgvs": "c.3G>A",
"zygosity": "heterozygous"
}
]
}
|
What clinical trial developing a new therapeutic for this condition is recruiting or listed as upcoming/not yet recruiting? Return a clinical trials ID
|
NCT05402384
|
exactMatch
|
Clinical_Trials
|
Trial_Identification
|
https://clinicaltrials.gov/study/NCT05402384
|
AITX-00010
|
{
"clinical_context": "seizures and global developmental delay. Age 2 months, Hemoglobin 5, Normal liver labs, Not enrolled in other trials",
"genotype": [
{
"gene": "SLC35A2",
"protein_hgvs": "p.Met1Ile",
"transcript": "NM_005660.3",
"variant_hgvs": "c.3G>A",
"zygosity": "heterozygous"
}
]
}
|
Is this patient eligible for clinical trial NCT05402384? Answer yes or no.
|
No
|
exactMatch
|
Clinical_Trials
|
Eligibility
|
Exclusion criteria lists hemoglobin <7 https://clinicaltrials.gov/study/NCT05402384
|
AITX-00011
|
{
"clinical_context": "early-onset seizures and developmental delays",
"genotype": [
{
"gene": "KCNT1",
"protein_hgvs": "p.Arg950Gln",
"transcript": "NM_020822.3",
"variant_hgvs": "c.2849G>A",
"zygosity": "heterozygous"
}
]
}
|
For which clinical trials evaluating new therapeutics is this patient eligible? Provide a clinical trial ID or answer None.
|
None
|
exactMatch
|
Clinical_Trials
|
Trial_Identification
|
Only a natural history study is listed. Source: https://clinicaltrials.gov/search?cond=KCNT1
|
AITX-00012
|
{
"clinical_context": "intellectual disability, seizures, and developmental delays",
"genotype": [
{
"gene": "GRIN2B",
"protein_hgvs": "p.Gln919Ter",
"transcript": "NM_000834.5",
"variant_hgvs": "c.2755C>T",
"zygosity": "heterozygous"
}
]
}
|
Is it more likely amenable to treatment with Memantine, L-serine, or Radiprodil
|
L-Serine
|
exactMatch
|
Drug_Development_and_Repurposing
|
Mechanism_Of_Action
|
Variant is a LOF variant. L-serine is being used for LOF variants whereas the others are being used for GOF variants https://academic.oup.com/brain/article/147/5/1653/7611854?login=false
|
AITX-00013
|
{
"clinical_context": "progressive cerebellar ataxia and peripheral neuropathy",
"genotype": [
{
"gene": "ANO10",
"protein_hgvs": "p.(Met97Ter)",
"transcript": "NM_018075.5",
"variant_hgvs": "c.289del",
"zygosity": "homozygous"
}
]
}
|
How many amino acids are coded for by the exon in which this variant occurs? Answer with a number
|
66
|
exactMatch
|
Variant_Assessment
|
Exon_Evaluation
|
Source: Ensembl
|
AITX-00014
|
{
"clinical_context": "progressive cerebellar ataxia and peripheral neuropathy",
"genotype": [
{
"gene": "ANO10",
"protein_hgvs": "p.(Met97Ter)",
"transcript": "NM_018075.5",
"variant_hgvs": "c.289del",
"zygosity": "homozygous"
}
]
}
|
What percentage of the total coding transcript for this gene are encoded by the exon in which this variant occurs? Answer with a decimal to nearest tenth.
|
0.1
|
exactMatch
|
Variant_Assessment
|
Exon_Evaluation
|
66/660 = 0.1 Source: Ensembl
|
AITX-00015
|
{
"clinical_context": "childhood-onset generalized dystonia",
"genotype": [
{
"gene": "KMT2B",
"protein_hgvs": "p.(Ile2694SerfsTer44)",
"transcript": "NM_014727.3",
"variant_hgvs": "c.8079delC",
"zygosity": "heterozygous"
}
]
}
|
Based on typical prediction rules, is this variant likely to result in nonsense mediated decay? Answer yes or no.
|
No
|
exactMatch
|
Variant_Assessment
|
Nonsense_Mediated_Decay
|
At the end of the last exon, after the main domain
|
AITX-00016
|
{
"clinical_context": "Malignant Peripheral Nerve Sheath Tumor and Pheochromocytoma",
"genotype": [
{
"gene": "NF1",
"protein_hgvs": "p.(Leu1243Pro)",
"transcript": "NM_001042492.3",
"variant_hgvs": "c.3728T>C",
"zygosity": "heterozygous"
}
]
}
|
In which functional domain does this variant occur? Answer choices: CSRD, TBD, GRD, Sec14-PH, HLR, NLS, SBR.
|
GRD
|
exactMatch
|
Variant_Assessment
|
Exon_Skipping
|
GRD, GAP related domain (1198–1549 residues) https://www.mdpi.com/2073-4425/13/7/1130#
|
README.md exists but content is empty.
- Downloads last month
- 69