Provide a comprehensive cross-database identifier and functional mapping reference for human LDLR. This should serve as a definitive lookup resource for researchers. ━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━ SECTION 1: GENE IDENTIFIERS ━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━ Provide ALL gene-level database identifiers: - HGNC ID and approved symbol - Ensembl gene ID (ENSG) - NCBI Entrez Gene ID - OMIM gene/locus ID - Genomic location: chromosome, start position, end position, strand ━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━ SECTION 2: TRANSCRIPT IDENTIFIERS ━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━ List ALL transcript-level identifiers: - Ensembl transcripts: ALL ENST IDs with biotype (protein_coding, etc.) How many total transcripts? - RefSeq transcripts: ALL NM_ mRNA accessions Mark which is MANE Select (canonical clinical standard) - CCDS IDs: ALL consensus coding sequence identifiers For the CANONICAL/MANE SELECT transcript: - List ALL exon IDs (ENSE) with genomic coordinates - Total exon count ━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━ SECTION 3: PROTEIN IDENTIFIERS ━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━ List ALL protein-level identifiers: - UniProt accessions: ALL entries (reviewed and unreviewed) Mark the canonical reviewed entry - RefSeq protein: ALL NP_ accessions Protein domains and families: - List ALL annotated domains/families with identifiers - Include: domain name, type (domain/family/superfamily), and ID ━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━ SECTION 4: STRUCTURE IDENTIFIERS ━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━ Experimental structures: - List ALL PDB structure IDs - For each: experimental method (X-ray, NMR, Cryo-EM) and resolution - Total PDB structure count Predicted structures: - AlphaFold model ID and confidence metrics (pLDDT) ━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━ SECTION 5: CROSS-SPECIES ORTHOLOGS ━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━ List orthologous genes in key model organisms (where available): - Mouse (Mus musculus): gene ID, symbol - Rat (Rattus norvegicus): gene ID, symbol - Zebrafish (Danio rerio): gene ID, symbol - Fruit fly (Drosophila melanogaster): gene ID, symbol - Worm (C. elegans): gene ID, symbol - Yeast (S. cerevisiae): gene ID, symbol ━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━ SECTION 6: CLINICAL VARIANTS & AI PREDICTIONS ━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━ Clinical variant annotations: - Total variant count in clinical databases - Breakdown by classification: Pathogenic, Likely Pathogenic, Uncertain Significance (VUS), Likely Benign, Benign - List TOP 50 pathogenic/likely pathogenic variants with: variant ID, HGVS notation, associated condition AI-based variant effect predictions: - Splice effect predictions: Total count List TOP 50 predicted splice-altering variants with delta scores - Missense pathogenicity predictions: Total count List TOP 50 predicted pathogenic missense variants with scores ━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━ SECTION 7: BIOLOGICAL PATHWAYS & GENE ONTOLOGY ━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━ Pathway membership: - List ALL biological pathways this gene participates in - Include pathway IDs and names - Total pathway count Gene Ontology annotations: - Biological Process: count and TOP 20 terms with IDs - Molecular Function: count and TOP 20 terms with IDs - Cellular Component: count and TOP 20 terms with IDs ━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━ SECTION 8: PROTEIN INTERACTIONS & MOLECULAR NETWORKS ━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━ Protein-protein interactions: - Total interaction count - List TOP 50 highest-confidence interacting proteins with scores Protein similarity (evolutionary and structural): - Structural/embedding similarity: How many similar proteins? List TOP 20 with similarity scores - Sequence homology: How many homologous proteins? List TOP 20 with identity/similarity scores ━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━ SECTION 9: TRANSCRIPTION FACTOR REGULATORY DATA ━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━ If this gene encodes a transcription factor: Downstream targets (genes regulated BY this TF): - Total target gene count - List TOP 50 target genes with regulation type (activates/represses) DNA binding profiles: - List ALL known binding motif IDs - Motif family classification Upstream regulators (TFs that regulate THIS gene): - List known transcriptional regulators with evidence type ━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━ SECTION 10: DRUG & PHARMACOLOGY DATA ━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━ If this gene/protein is a drug target: Targeting molecules: - How many drug/compound molecules target this protein? - List TOP 30 molecules by development phase - Include: molecule ID, name, mechanism, highest development phase Clinical trials: - How many clinical trials involve drugs targeting this gene? - List TOP 20 trials with: trial ID, phase, status, intervention Pharmacogenomics: - Known drug-gene interactions affecting drug response - Dosing guidelines if any exist ━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━ SECTION 11: EXPRESSION PROFILES ━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━ Tissue expression: - Which tissues express this gene most highly? - List TOP 30 tissues with expression scores/levels - Note any tissue-specific or tissue-enriched patterns Cell type expression: - Which cell types show highest expression? - List TOP 30 cell types with expression scores - Note any cell type-specific patterns Single-cell expression data (if available): - Which single-cell datasets/experiments include this gene? - Notable cell population patterns ━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━ SECTION 12: DISEASE ASSOCIATIONS ━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━ Mendelian/monogenic disease links: - What diseases are caused by mutations in this gene? - List ALL associated diseases with: disease name, disease ID, inheritance pattern, evidence level Phenotype associations: - What clinical phenotypes are associated with this gene? - List TOP 50 phenotype terms with IDs Complex trait associations (GWAS): - What traits/diseases are linked via genome-wide association studies? - List TOP 30 GWAS associations with: trait, study ID, p-value, effect size if available ━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━ FORMATTING REQUIREMENTS ━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━ - Present each section with clear headers - Use tables for listing multiple items - Always include COUNTS for every category - For lists with 50 items: show total count + TOP 50 - For lists with

Question

Provide a comprehensive cross-database identifier and functional mapping
reference for human LDLR. This should serve as a definitive
lookup resource for researchers.

━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━
SECTION 1: GENE IDENTIFIERS
━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━
Provide ALL gene-level database identifiers:
- HGNC ID and approved symbol
- Ensembl gene ID (ENSG)
- NCBI Entrez Gene ID
- OMIM gene/locus ID
- Genomic location: chromosome, start position, end position, strand

━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━
SECTION 2: TRANSCRIPT IDENTIFIERS
━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━
List ALL transcript-level identifiers:
- Ensembl transcripts: ALL ENST IDs with biotype (protein_coding, etc.)
  How many total transcripts?
- RefSeq transcripts: ALL NM_ mRNA accessions
  Mark which is MANE Select (canonical clinical standard)
- CCDS IDs: ALL consensus coding sequence identifiers

For the CANONICAL/MANE SELECT transcript:
- List ALL exon IDs (ENSE) with genomic coordinates
- Total exon count

━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━
SECTION 3: PROTEIN IDENTIFIERS
━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━
List ALL protein-level identifiers:
- UniProt accessions: ALL entries (reviewed and unreviewed)
  Mark the canonical reviewed entry
- RefSeq protein: ALL NP_ accessions

Protein domains and families:
- List ALL annotated domains/families with identifiers
- Include: domain name, type (domain/family/superfamily), and ID

━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━
SECTION 4: STRUCTURE IDENTIFIERS
━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━
Experimental structures:
- List ALL PDB structure IDs
- For each: experimental method (X-ray, NMR, Cryo-EM) and resolution
- Total PDB structure count

Predicted structures:
- AlphaFold model ID and confidence metrics (pLDDT)

━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━
SECTION 5: CROSS-SPECIES ORTHOLOGS
━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━
List orthologous genes in key model organisms (where available):
- Mouse (Mus musculus): gene ID, symbol
- Rat (Rattus norvegicus): gene ID, symbol
- Zebrafish (Danio rerio): gene ID, symbol
- Fruit fly (Drosophila melanogaster): gene ID, symbol
- Worm (C. elegans): gene ID, symbol
- Yeast (S. cerevisiae): gene ID, symbol

━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━
SECTION 6: CLINICAL VARIANTS & AI PREDICTIONS
━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━
Clinical variant annotations:
- Total variant count in clinical databases
- Breakdown by classification: Pathogenic, Likely Pathogenic,
  Uncertain Significance (VUS), Likely Benign, Benign
- List TOP 50 pathogenic/likely pathogenic variants with:
  variant ID, HGVS notation, associated condition

AI-based variant effect predictions:
- Splice effect predictions: Total count
  List TOP 50 predicted splice-altering variants with delta scores
- Missense pathogenicity predictions: Total count
  List TOP 50 predicted pathogenic missense variants with scores

━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━
SECTION 7: BIOLOGICAL PATHWAYS & GENE ONTOLOGY
━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━
Pathway membership:
- List ALL biological pathways this gene participates in
- Include pathway IDs and names
- Total pathway count

Gene Ontology annotations:
- Biological Process: count and TOP 20 terms with IDs
- Molecular Function: count and TOP 20 terms with IDs
- Cellular Component: count and TOP 20 terms with IDs

━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━
SECTION 8: PROTEIN INTERACTIONS & MOLECULAR NETWORKS
━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━
Protein-protein interactions:
- Total interaction count
- List TOP 50 highest-confidence interacting proteins with scores

Protein similarity (evolutionary and structural):
- Structural/embedding similarity: How many similar proteins?
  List TOP 20 with similarity scores
- Sequence homology: How many homologous proteins?
  List TOP 20 with identity/similarity scores

━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━
SECTION 9: TRANSCRIPTION FACTOR REGULATORY DATA
━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━
If this gene encodes a transcription factor:

Downstream targets (genes regulated BY this TF):
- Total target gene count
- List TOP 50 target genes with regulation type (activates/represses)

DNA binding profiles:
- List ALL known binding motif IDs
- Motif family classification

Upstream regulators (TFs that regulate THIS gene):
- List known transcriptional regulators with evidence type

━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━
SECTION 10: DRUG & PHARMACOLOGY DATA
━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━
If this gene/protein is a drug target:

Targeting molecules:
- How many drug/compound molecules target this protein?
- List TOP 30 molecules by development phase
- Include: molecule ID, name, mechanism, highest development phase

Clinical trials:
- How many clinical trials involve drugs targeting this gene?
- List TOP 20 trials with: trial ID, phase, status, intervention

Pharmacogenomics:
- Known drug-gene interactions affecting drug response
- Dosing guidelines if any exist

━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━
SECTION 11: EXPRESSION PROFILES
━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━
Tissue expression:
- Which tissues express this gene most highly?
- List TOP 30 tissues with expression scores/levels
- Note any tissue-specific or tissue-enriched patterns

Cell type expression:
- Which cell types show highest expression?
- List TOP 30 cell types with expression scores
- Note any cell type-specific patterns

Single-cell expression data (if available):
- Which single-cell datasets/experiments include this gene?
- Notable cell population patterns

━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━
SECTION 12: DISEASE ASSOCIATIONS
━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━
Mendelian/monogenic disease links:
- What diseases are caused by mutations in this gene?
- List ALL associated diseases with: disease name, disease ID,
  inheritance pattern, evidence level

Phenotype associations:
- What clinical phenotypes are associated with this gene?
- List TOP 50 phenotype terms with IDs

Complex trait associations (GWAS):
- What traits/diseases are linked via genome-wide association studies?
- List TOP 30 GWAS associations with: trait, study ID, p-value,
  effect size if available

━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━
FORMATTING REQUIREMENTS
━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━
- Present each section with clear headers
- Use tables for listing multiple items
- Always include COUNTS for every category
- For lists with >50 items: show total count + TOP 50
- For lists with <50 items: show ALL items
- Always include database identifiers (IDs), not just names
- Mark canonical/primary/reviewed entries where applicable
- If a section has no data available, state "No data available"
  rather than omitting the section

Accepted Answer

LDLR - Comprehensive Cross-Database Identifier and Functional Mapping Reference Low-Density Lipoprotein Receptor (Human)
Section 1: Gene Identifiers
DatabaseIdentifierDescription HGNCHGNC:6547Approved symbol: LDLR Ensembl GeneENSG00000130164Primary Ensembl gene ID NCBI Entrez Gene3949NCBI Gene ID OMIM606945Gene/locus MIM number Genomic Location (GRCh38/hg38) FeatureValue Chromosome19 Cytogenetic Band19p13.2 Start Position11,089,418 End Position11,133,830 Strand+ (positive) Gene Length44,413 bp …

Transcript ID	Biotype	Start	End	Strand
ENST00000252444	protein_coding	11,090,579	11,133,816	+
ENST00000455727	protein_coding	11,089,463	11,131,484	+
ENST00000535915	protein_coding	11,089,463	11,131,538	+
ENST00000545707	protein_coding	11,089,463	11,131,610	+
ENST00000557933	protein_coding	11,089,462	11,131,525	+
ENST00000557958	retained_intron	11,089,463	11,104,268	+
ENST00000558013	protein_coding	11,089,478	11,131,812	+
ENST00000558518	protein_coding	11,089,463	11,133,820	+
ENST00000558528	retained_intron	11,106,356	11,107,515	+
ENST00000559340	nonsense_mediated_decay	11,089,418	11,133,796	+
ENST00000560173	retained_intron	11,110,713	11,113,481	+
ENST00000560467	protein_coding	11,089,464	11,133,816	+
ENST00000560502	retained_intron	11,089,463	11,100,578	+
ENST00000560628	protein_coding_CDS_not_defined	11,127,547	11,133,521	+
ENST00000713991	nonsense_mediated_decay	11,089,464	11,133,812	+
ENST00000856645	protein_coding	11,089,463	11,133,225	+
ENST00000856646	protein_coding	11,089,430	11,132,744	+
ENST00000856647	protein_coding	11,089,494	11,132,744	+
ENST00000856648	protein_coding	11,089,509	11,132,744	+
ENST00000913405	protein_coding	11,089,421	11,133,820	+
ENST00000913406	protein_coding	11,089,423	11,133,820	+
ENST00000913407	protein_coding	11,089,452	11,133,830	+
ENST00000913408	protein_coding	11,089,452	11,133,818	+
ENST00000913409	protein_coding	11,089,455	11,133,817	+
ENST00000913410	protein_coding	11,089,464	11,133,816	+
ENST00000913411	protein_coding	11,089,455	11,133,562	+
ENST00000913412	protein_coding	11,089,420	11,133,243	+
ENST00000942040	protein_coding	11,089,471	11,132,552	+

RefSeq ID	Type	Status	MANE Select
NM_000527	mRNA	REVIEWED	Yes (Canonical)
NM_001195798	mRNA	REVIEWED	No
NM_001195799	mRNA	REVIEWED	No
NM_001195800	mRNA	REVIEWED	No
NM_001195803	mRNA	REVIEWED	No
NM_001406861	mRNA	REVIEWED	No
XM_011528010	mRNA	PREDICTED	No
XM_047438831	mRNA	PREDICTED	No
XM_054321014	mRNA	PREDICTED	No
XM_054321015	mRNA	PREDICTED	No

Exon ID	Start	End	Length (bp)
ENSE00002564945	11,090,579	11,090,919	341
ENSE00004011963	11,100,223	11,100,345	123
ENSE00004011966	11,102,664	11,102,786	123
ENSE00004011965	11,105,220	11,105,600	381
ENSE00004011970	11,106,565	11,106,687	123
ENSE00004011967	11,107,392	11,107,514	123
ENSE00004011958	11,110,652	11,110,771	120
ENSE00004011968	11,111,514	11,111,639	126
ENSE00002568469	11,113,278	11,113,449	172
ENSE00003509370	11,113,535	11,113,762	228
ENSE00003604878	11,116,094	11,116,212	119
ENSE00003482036	11,116,859	11,116,998	140
ENSE00003464579	11,120,092	11,120,233	142
ENSE00003463530	11,120,370	11,120,522	153
ENSE00003501255	11,123,174	11,123,344	171
ENSE00003629410	11,128,008	11,128,085	78
ENSE00003680438	11,129,513	11,129,670	158
ENSE00004011960	11,131,281	11,133,816	2,536

UniProt ID	Type	Description
P01130	Reviewed (Swiss-Prot)	Canonical entry
A0AAQ5BHB8	Unreviewed (TrEMBL)	Isoform
H0YM92	Unreviewed (TrEMBL)	Isoform
H0YMD1	Unreviewed (TrEMBL)	Isoform
H0YMQ3	Unreviewed (TrEMBL)	Isoform
J3KMZ9	Unreviewed (TrEMBL)	Isoform

Property	Value
Length	860 amino acids
Mass	95,376 Da

LDLR Gene Complete Identifier and Functional Mapping Reference

Structured Data Sources

Database	Identifier	Description
HGNC	HGNC:6547	Approved symbol: LDLR
Ensembl Gene	ENSG00000130164	Primary Ensembl gene ID
NCBI Entrez Gene	3949	NCBI Gene ID
OMIM	606945	Gene/locus MIM number

Feature	Value
Chromosome	19
Cytogenetic Band	19p13.2
Start Position	11,089,418
End Position	11,133,830
Strand	+ (positive)
Gene Length	44,413 bp

RefSeq ID	Type	Status	MANE Select
NP_000518	protein	REVIEWED	Yes
NP_001182727	protein	REVIEWED	No
NP_001182728	protein	REVIEWED	No
NP_001182729	protein	REVIEWED	No
NP_001182732	protein	REVIEWED	No
NP_001393790	protein	REVIEWED	No
XP_011526312	predicted_protein	PREDICTED	No
XP_047294787	predicted_protein	PREDICTED	No
XP_054176989	predicted_protein	PREDICTED	No
XP_054176990	predicted_protein	PREDICTED	No

InterPro ID	Name	Type
IPR000033	LDLR_classB_rpt	Repeat
IPR000152	EGF-type_Asp/Asn_hydroxyl_site	PTM
IPR000742	EGF	Domain
IPR001881	EGF-like_Ca-bd_dom	Domain
IPR002172	LDrepeatLR_classA_rpt	Repeat
IPR009030	Growth_fac_rcpt_cys_sf	Homologous_superfamily
IPR011042	6-blade_b-propeller_TolB-like	Homologous_superfamily
IPR018097	EGF_Ca-bd_CS	Conserved_site
IPR023415	LDLR_class-A_CS	Conserved_site
IPR036055	LDL_receptor-like_sf	Homologous_superfamily
IPR049883	NOTCH1_EGF-like	Domain
IPR051221	LDLR-related	Family

PDB ID	Title	Method	Resolution
1AJJ	LDL RECEPTOR LIGAND-BINDING MODULE 5	X-RAY DIFFRACTION	1.7 Å
1D2J	LDL RECEPTOR LIGAND-BINDING MODULE 6	SOLUTION NMR	-
1F5Y	NMR STRUCTURE FIRST AND SECOND LIGAND-BINDING MODULES	SOLUTION NMR	-
1F8Z	NMR STRUCTURE SIXTH LIGAND-BINDING MODULE	SOLUTION NMR	-
1HJ7	LDL RECEPTOR Ca2+ BINDING EGF-LIKE DOMAINS	SOLUTION NMR	-
1HZ8	EGF-HOMOLOGY MODULES	SOLUTION NMR	-
1I0U	EGF-HOMOLOGY MODULES	SOLUTION NMR	-
1IJQ	YWTD-EGF DOMAIN PAIR	X-RAY DIFFRACTION	1.5 Å
1LDL	CYSTEINE-RICH REPEAT	SOLUTION NMR	-
1LDR	SECOND REPEAT LIGAND-BINDING DOMAIN	SOLUTION NMR	-
1N7D	EXTRACELLULAR DOMAIN	X-RAY DIFFRACTION	3.7 Å
1XFE	LA7-EGFA PAIR	SOLUTION NMR	-
2FCW	LIGAND-BINDING MODULES 3-4 WITH RAP	X-RAY DIFFRACTION	1.26 Å
2KRI	COMPLEX WITH BETA2-GLYCOPROTEIN I	SOLUTION NMR	-
2LGP	LA45 FROM LDLR	SOLUTION NMR	-
2M7P	RXFP1 WITH LDLA MODULE	SOLUTION NMR	-
2MG9	TRUNCATED EGF-A	SOLUTION NMR	-
2W2M	PCSK9-DELTAC WITH EGF-A	X-RAY DIFFRACTION	2.4 Å
2W2N	PCSK9-DELTAC WITH EGF-A H306Y	X-RAY DIFFRACTION	2.3 Å
2W2O	PCSK9 D374Y WITH EGF-A	X-RAY DIFFRACTION	2.62 Å
2W2P	PCSK9 D374A WITH EGF-A	X-RAY DIFFRACTION	2.62 Å
2W2Q	PCSK9 D374H WITH EGF-A	X-RAY DIFFRACTION	2.33 Å
3BPS	PCSK9:EGF-A COMPLEX	X-RAY DIFFRACTION	2.41 Å
3GCW	PCSK9:EGFA(H306Y)	X-RAY DIFFRACTION	2.7 Å
3GCX	PCSK9:EGFA (pH 7.4)	X-RAY DIFFRACTION	2.7 Å
3M0C	PCSK9 WITH LDL RECEPTOR	X-RAY DIFFRACTION	7.01 Å
3P5B	LDLR/PCSK9 COMPLEX	X-RAY DIFFRACTION	3.3 Å
3P5C	LDLR/PCSK9 COMPLEX	X-RAY DIFFRACTION	4.2 Å
3SO6	LDL RECEPTOR TAIL WITH ARH PTB DOMAIN	X-RAY DIFFRACTION	1.37 Å
4NE9	PCSK9 WITH LDLR PEPTIDE	X-RAY DIFFRACTION	2.6 Å
5OY9	VSV G CR3	X-RAY DIFFRACTION	3.6 Å
5OYL	VSV G CR2	X-RAY DIFFRACTION	2.25 Å
9BD8	ApoB 100 BETA BARREL WITH LDLR	ELECTRON MICROSCOPY	4.8 Å
9BDE	ApoB 100 WITH LDLR	ELECTRON MICROSCOPY	4.18 Å
9BDT	ApoB 100 WITH LDL RECEPTOR	ELECTRON MICROSCOPY	5.4 Å
9COO	NANOBODY WITH ApoB 100	ELECTRON MICROSCOPY	3.73 Å

Species	Ensembl Gene ID	Symbol	Biotype
Mouse (Mus musculus)	ENSMUSG00000032193	Ldlr	protein_coding
Rat (Rattus norvegicus)	ENSRNOG00000009946	Ldlr	protein_coding
Zebrafish (Danio rerio)	ENSDARG00000075974	si:dkey-258f14.3	protein_coding
Zebrafish (Danio rerio)	ENSDARG00000095925	si:dkey-258f14.7	protein_coding
Fruit fly (D. melanogaster)	FBGN0000119	arr	protein_coding
Fruit fly (D. melanogaster)	FBGN0026403	Ndg	protein_coding

Classification	Count
Pathogenic	500+
Likely Pathogenic	500+
Uncertain Significance (VUS)	2,000+
Likely Benign	1,000+
Benign	200+

ClinVar ID	HGVS Notation	Type	Review Status
161266	c.301G>A (p.Glu101Lys)	SNV	Expert panel
161268	c.862G>A (p.Glu288Lys)	SNV	Expert panel
161269	c.296C>G (p.Ser99Ter)	SNV	Expert panel
161271	c.1775G>A (p.Gly592Glu)	SNV	Expert panel
161277	c.1432G>A (p.Gly478Arg)	SNV	Expert panel
161284	c.1444G>A (p.Asp482Asn)	SNV	Expert panel
161285	c.1474G>A (p.Asp492Asn)	SNV	Expert panel
161287	c.798T>A (p.Asp266Glu)	SNV	Expert panel
161290	c.1783C>T (p.Arg595Trp)	SNV	Expert panel
162499	c.1359-1G>A	Splice	Expert panel
1052293	c.1706A>T (p.Asp569Val)	SNV	Single submitter
1068547	c.1187-1_1187delinsTA	Indel	Single submitter
1069255	c.1503_1504dup (p.Asp502fs)	Dup	Single submitter
1071946	c.1411del (p.Arg471fs)	Del	Single submitter
1072924	c.1356C>A (p.Cys452Ter)	SNV	Single submitter
1073028	c.1516dup (p.Val506fs)	Dup	Single submitter
1073362	c.1824del (p.Phe609fs)	Del	Single submitter
1075416	c.678_681dup (p.Glu228Ter)	Dup	Multiple submitters
1075455	c.2530_2542del (p.Gly844fs)	Del	Single submitter
1076861	c.1531_1532dup (p.Leu511fs)	Dup	Single submitter
1076971	c.2449_2453del (p.Asn817fs)	Del	Single submitter
1120258	c.1061-1G>T	Splice	Single submitter
1120259	c.1070_1071dup (p.Cys358fs)	Dup	Single submitter
1163620	c.1137T>A (p.Cys379Ter)	SNV	Multiple submitters
1163722	c.1358+1G>C	Splice	Single submitter
1220548	c.181G>T (p.Glu61Ter)	SNV	No assertion
1300653	c.1037dup (p.Val347fs)	Dup	Single submitter
1334396	c.413C>A (p.Ser138Ter)	SNV	Single submitter
1334399	c.2022dup (p.Gly675fs)	Dup	Multiple submitters
1341564	c.1586+1G>C	Splice	Single submitter
1371905	c.1222G>T (p.Glu408Ter)	SNV	Single submitter
1372829	c.331C>T (p.Gln111Ter)	SNV	Multiple submitters
1410201	c.1171del (p.Ala391fs)	Del	Single submitter
1418589	c.2191_2195dup (p.Ser732fs)	Dup	Single submitter
1420888	c.1661del (p.Ser554fs)	Del	Single submitter
1423897	c.2193dup (p.Ser732fs)	Dup	Single submitter
1452256	c.17G>A (p.Trp6Ter)	SNV	Multiple submitters
1452737	c.2282_2309dup (p.Gln770fs)	Dup	Single submitter
1454181	c.2488A>T (p.Lys830Ter)	SNV	Single submitter
1454247	c.2128_2131dup (p.Cys711Ter)	Dup	Single submitter
1454897	c.116dup (p.Cys39fs)	Dup	Single submitter
1455072	c.97_115del (p.Gln33fs)	Del	Single submitter
1455437	c.620_626del (p.Gly207fs)	Del	Single submitter
1455439	c.2485C>T (p.Gln829Ter)	SNV	Single submitter
1455835	c.108_109insT (p.Gly37fs)	Ins	Single submitter
1457599	c.1167del (p.Lys390fs)	Del	Single submitter
1457613	c.2232_2290del (p.Pro745fs)	Del	Single submitter
1459377	c.2194_2198dup (p.Thr734fs)	Dup	Single submitter
1685923	c.106G>T (p.Asp36Tyr)	SNV	Single submitter
1727785	c.1129T>C (p.Cys377Arg)	SNV	Multiple submitters

Variant	Effect	Delta Score
19:11089614:AGGTA:A	donor_loss	1.00
19:11089617:T:A	donor_loss	1.00
19:11089612:GCAG:G	donor_gain	0.99
19:11089616:G:GG	donor_gain	0.99
19:11090857:TTGAA:T	donor_gain	0.92
19:11091642:G:GT	donor_gain	0.88
19:11089613:CAG:C	donor_gain	0.84
19:11089614:AG:A	donor_gain	0.82
19:11089615:GG:G	donor_gain	0.82
19:11090351:GC:G	donor_gain	0.76
19:11090922:GGGGC:G	donor_gain	0.75
19:11091503:GGA:G	donor_gain	0.73
19:11091504:GAG:G	donor_gain	0.73
19:11091653:C:T	donor_gain	0.72
19:11091977:G:GT	donor_gain	0.71
19:11091582:C:T	donor_gain	0.69
19:11091573:A:T	donor_gain	0.68
19:11091637:T:G	donor_gain	0.67
19:11091064:T:A	donor_gain	0.66
19:11089507:T:TA	donor_gain	0.63

Variant	Protein Change	Pathogenicity Score	Classification
19:11100291:T:A	C46S	0.998	likely_pathogenic
19:11100309:T:A	C52S	0.998	likely_pathogenic
19:11100250:T:G	F32C	0.998	likely_pathogenic
19:11100234:T:A	C27S	0.976	likely_pathogenic
19:11100257:C:G	C34W	0.994	likely_pathogenic
19:11100270:T:A	C39S	0.994	likely_pathogenic
19:11100287:G:C	W44C	0.994	likely_pathogenic
19:11100249:T:C	F32L	0.996	likely_pathogenic
19:11100251:C:A	F32L	0.996	likely_pathogenic
19:11100255:T:A	C34S	0.997	likely_pathogenic
19:11100292:G:A	C46Y	0.995	likely_pathogenic
19:11100293:C:G	C46W	0.995	likely_pathogenic
19:11100291:T:C	C46R	0.995	likely_pathogenic
19:11100309:T:C	C52R	0.995	likely_pathogenic
19:11100311:C:G	C52W	0.996	likely_pathogenic
19:11100321:T:C	S56P	0.995	likely_pathogenic
19:11100256:G:A	C34Y	0.990	likely_pathogenic
19:11100310:G:A	C52Y	0.992	likely_pathogenic
19:11100292:G:C	C46S	0.998	likely_pathogenic
19:11100255:T:C	C34R	0.991	likely_pathogenic

CCDS ID
CCDS12254
CCDS56083
CCDS56084
CCDS56085
CCDS58651

Pathway ID	Pathway Name
R-HSA-8856825	Cargo recognition for clathrin-mediated endocytosis
R-HSA-8856828	Clathrin-mediated endocytosis
R-HSA-8964026	Chylomicron clearance
R-HSA-8964038	LDL clearance
R-HSA-975634	Retinoid metabolism and transport

GO ID	Term
GO:0006898	receptor-mediated endocytosis
GO:0034383	low-density lipoprotein particle clearance
GO:0042632	cholesterol homeostasis
GO:0008203	cholesterol metabolic process
GO:0030301	cholesterol transport
GO:0006897	endocytosis
GO:0070508	cholesterol import
GO:0090118	receptor-mediated endocytosis involved in cholesterol transport
GO:0034381	plasma lipoprotein particle clearance
GO:0034384	high-density lipoprotein particle clearance
GO:0042159	lipoprotein catabolic process
GO:0006629	lipid metabolic process
GO:0015914	phospholipid transport
GO:0030299	intestinal cholesterol absorption
GO:0097242	amyloid-beta clearance
GO:0150094	amyloid-beta clearance by cellular catabolic process
GO:0006909	phagocytosis
GO:0001523	retinoid metabolic process
GO:0007616	long-term memory
GO:0010628	positive regulation of gene expression

GO ID	Term
GO:0005041	low-density lipoprotein particle receptor activity
GO:0030169	low-density lipoprotein particle binding
GO:0030229	very-low-density lipoprotein particle receptor activity
GO:0071813	lipoprotein particle binding
GO:0005509	calcium ion binding
GO:0001540	amyloid-beta binding
GO:0001618	virus receptor activity
GO:0002020	protease binding
GO:0032050	clathrin heavy chain binding
GO:0042802	identical protein binding
GO:0060090	molecular adaptor activity

GO ID	Term
GO:0005886	plasma membrane
GO:0009897	external side of plasma membrane
GO:0009986	cell surface
GO:0005905	clathrin-coated pit
GO:0030669	clathrin-coated endocytic vesicle membrane
GO:0005769	early endosome
GO:0005770	late endosome
GO:0010008	endosome membrane
GO:0036020	endolysosome membrane
GO:0097443	sorting endosome
GO:0005764	lysosome
GO:0005794	Golgi apparatus
GO:0016020	membrane
GO:0016323	basolateral plasma membrane
GO:0034362	low-density lipoprotein particle
GO:0043235	receptor complex
GO:0045177	apical part of cell
GO:0036477	somatodendritic compartment
GO:1990666	PCSK9-LDLR complex

UniProt ID	Gene	Score
P07711	CTSL	678
Q5SW96	SLC47A2	664
Q8NBP7	PCSK9	591
P25774	CTSS	461
P07996	THBS1	450
Q96I15	SCYL3	448
P07858	CTSB	432
O60911	CTSV	335
Q99538	LGMN	331
P00533	EGFR	325
P57727	TRADD	312
Q9UBX1	CATV	311
P43235	CTSK	301
P04114	APOB	295
Q6NUJ1	MEGF10	290
O00571	DDX3X	281
Q9BRK3	MXRA8	280
P52757	CHK1	275
Q8TEC5	SH3GL1	262
Q8IWL3	ITGBL1	261

Interaction ID	Partner A	Partner B	Type	Score
EBI-15683183	PCSK9	LDLR	direct interaction	0.72
EBI-21013761	LDLR	LRPAP1	direct interaction	0.74
EBI-21013717	LDLR	APOE	direct interaction	0.71
EBI-15842181	LDLR	APOH	direct interaction	0.62
EBI-15981592	LDLRAP1	LDLR	direct interaction	0.56
EBI-11476397	LDLR	LDLR	direct interaction	0.44

UniProt ID	Top Similarity	Average Similarity
G3V928	1.0000	0.9848
Q91ZX7	1.0000	0.9850
A2VCU8	0.9998	0.9798
O75096 (LRP1)	0.9999	0.9715
P98155 (LRP2)	0.9998	0.9858
P98156	0.9999	0.9854
P98158 (LRP4)	0.9996	0.9848
P98166	0.9999	0.9854
Q07954 (LRP8)	0.9999	0.9850
P35950 (VLDLR)	0.9992	0.9882
P35951	0.9992	0.9869
P35952	0.9988	0.9873
P35953	0.9998	0.9860

UniProt ID	Top Identity (%)	Top Bitscore
A2ARV4	94.30	6693
P98158	94.30	6685
Q9JI18	92.20	6617
Q9NZR2	92.20	6620
C0HL13	73.80	4826
O88307	97.10	3713
P0DSP1	97.10	3719
Q92673	94.10	3652
Q95209	94.10	3653
O75581	98.20	2679
O88572	98.20	2679
O75197	93.80	2529
Q91VN0	93.80	2528
B5DFC9	92.20	2506
O88322	92.20	2501
Q8VI56	98.70	2422
Q9QYP1	98.70	2425
O75096	97.00	2366

TF Gene	Regulation	Confidence
SREBF2	Activation	High
SREBF1	Activation	High
SP1	Activation	High
HNF4A	Activation	-
ESR1	Activation	High
CREB1	Activation	High
CREBBP	Activation	High
EGR1	Activation	High
CEBPG	Activation	High
KLF9	Activation	High
DGKQ	Activation	-
NFYA	Activation	Low
PPARA	Activation	-
RXRA	Activation	Low
ATF3	Repression	High
KLF13	Repression	High
PPARG	Repression	High
PPARGC1A	Repression	High
ESR2	Activation	Low
BMAL1	Unknown	High
CEBPA	Unknown	-
CEBPB	Unknown	High
FOS	Unknown	-
HES1	Unknown	High
HES6	Unknown	High
IKZF1	Unknown	High
KLF4	Unknown	-
NR1H3	Unknown	-
SP3	Unknown	High
THRB	Unknown	-
YY1	Unknown	High
ZBTB17	Unknown	High
CNBP	Unknown	High
DNMT1	Unknown	Low
HNRNPK	Unknown	High
TXK	Unknown	High

Regulator	Target	Effect	Mechanism
SREBF2	LDLR	Up-regulates	Transcriptional regulation
HNF4A	LDLR	Up-regulates	Transcriptional regulation
APOB	LDLR	Up-regulates	Binding
MYLIP	LDLR	Down-regulates	Ubiquitination (destabilization)
Porfimer	LDLR	Up-regulates	Chemical activation

Drug	PharmGKB ID	Clinical Annotations	Variant Annotations
Atorvastatin	PA448500	54	292
Pravastatin	PA451089	36	177
Rosuvastatin	PA134308647	24	170
Fluvastatin	PA449688	20	68
Lovastatin	PA450272	12	17
Ribavirin	PA451241	46	346
Atenolol	PA448499	44	118
Peginterferon alfa-2a	PA164749390	31	211
Peginterferon alfa-2b	PA164784024	41	289
Pitavastatin	PA142650384	4	26
Alirocumab	PA166159961	0	0
Evinacumab	PA166222281	0	0
Inclisiran	PA166268802	0	0
Lomitapide	PA166114922	0	0
Mipomersen	PA166114927	0	0

Trial ID	Title	Phase	Status
NCT00916643	LDL Apheresis Using H.E.L.P. Therapy	Phase 4	Completed
NCT00655265	Colesevelam in Familial Hypercholesterolaemia	Phase 4	Completed
NCT00145574	Colesevelam in Pediatric Patients	Phase 4	Completed
NCT00242944	JAPAN-ACS Pitavastatin vs Atorvastatin	Phase 4	Completed
NCT00211705	MEGA Study - Elevated Cholesterol	Phase 4	Completed
NCT00549926	Yokohama-ACS Statin Comparison	Phase 4	Completed
NCT00871351	Ezetimibe + Atorvastatin Study	Phase 4	Completed
NCT00329160	Rosuvastatin Long-term Treatment	Phase 4	Completed
NCT00397826	Simvastatin 40mg Effects	Phase 4	Completed
NCT01212900	Imaging vs Risk Factor Therapy	Phase 4	Completed

Property	Value
Expression Breadth	Ubiquitous
Total Present Calls	281
Total Conditions	295
Max Expression Score	99.53
Average Expression Score	81.62
Gold Quality Calls	271

Tissue	Expression Score	Quality
Adrenal tissue	99.53	Gold
Lower lobe of lung	97.66	Gold
Right adrenal gland	96.45	Gold
Adrenal gland	96.21	Gold
Right adrenal gland cortex	96.05	Gold
Left adrenal gland	95.85	Gold
Endometrium epithelium	95.75	Gold
Olfactory segment of nasal mucosa	95.66	Gold
Adrenal cortex	95.48	Gold
Left adrenal gland cortex	95.31	Gold
Stromal cell of endometrium	95.30	Gold
Upper lobe of lung	95.17	Gold
Upper lobe of left lung	95.09	Gold
Lung	94.52	Gold
Mucosa of urinary bladder	94.34	Gold
Right lung	93.94	Gold
Esophagus mucosa	93.66	Gold
Lower esophagus mucosa	93.61	Gold
Islet of Langerhans	93.28	Gold
Left uterine tube	93.21	Gold
Pharyngeal mucosa	92.79	Gold
Mucosa of sigmoid colon	92.79	Gold
Ventricular zone	92.77	Gold
Cartilage tissue	92.67	Gold
Cervix epithelium	92.43	Gold
Liver	92.39	Gold
Decidua	92.36	Gold
Oral cavity	92.09	Gold
Gingival epithelium	91.83	Gold
Right ovary	91.73	Gold

Cell Type	CL ID
Stromal cell of endometrium	CL:0002255
Bronchial epithelial cell	CL:0002328
Epithelial cell of pancreas	CL:0000083
Oocyte	CL:0000023
Granulocyte	CL:0000094
Bone marrow cell	CL:0002092
Type B pancreatic cell	CL:0000169
Monocyte	CL:0000576
Mononuclear leukocyte	CL:0000842
Leukocyte	CL:0000738
Secondary oocyte	CL:0000655
Pancreatic ductal cell	CL:0002079
Buccal mucosa cell	CL:0002336

Experiment ID	Description	Cell Count
E-MTAB-8060	Human embryos in vitro	245,346
E-GEOD-130148	Lung Cell Atlas - Drop-seq	14,560
E-MTAB-10596	Dental follicle organoids	3,388
E-MTAB-3929	Human preimplantation embryos	1,529

Disease	Disease ID	Inheritance	Evidence
Familial Hypercholesterolemia, Type 1	OMIM:143890	Autosomal Dominant	Definitive
Familial Hypercholesterolemia	MONDO:0005439	AD	Strong
Homozygous Familial Hypercholesterolemia	Orphanet:391665	Autosomal Recessive	Supportive

Submitter	Disease	Classification	MOI
Laboratory for Molecular Medicine	Hypercholesterolemia, familial, 1	Definitive	AD
Genomics England PanelApp	Hypercholesterolemia, familial, 1	Strong	AD
Labcorp Genetics	Hypercholesterolemia, familial, 1	Strong	AD
Orphanet	Homozygous familial hypercholesterolemia	Supportive	AR

HPO ID	Phenotype
HP:0003124	Hypercholesterolemia
HP:0003141	Increased LDL cholesterol concentration
HP:0003077	Hyperlipidemia
HP:0001658	Myocardial infarction
HP:0001677	Coronary artery atherosclerosis
HP:0005181	Premature coronary artery atherosclerosis
HP:0004416	Precocious atherosclerosis
HP:0005177	Premature arteriosclerosis
HP:0001681	Angina pectoris
HP:0001645	Sudden cardiac death
HP:0000991	Xanthomatosis
HP:0010874	Tendon xanthomatosis
HP:0001114	Xanthelasma
HP:0001084	Corneal arcus
HP:0004963	Calcification of the aorta
HP:0012397	Aortic atherosclerotic lesion
HP:0004381	Supravalvular aortic stenosis
HP:0004950	Peripheral arterial stenosis
HP:0001920	Renal artery stenosis
HP:0007201	Cerebral artery atherosclerosis
HP:0003062	Abnormal internal carotid artery morphology
HP:0030882	Coronary artery aneurysm
HP:0001653	Mitral regurgitation
HP:0030148	Heart murmur
HP:0005162	Abnormal left ventricular function
HP:0000822	Hypertension
HP:0002094	Dyspnea
HP:0001397	Hepatic steatosis
HP:0006693	Myocardial steatosis
HP:0000799	Renal steatosis
HP:0002829	Arthralgia
HP:0100261	Abnormal tendon morphology
HP:0001138	Optic neuropathy
HP:0012373	Abnormal eye physiology
HP:0012638	Abnormal nervous system physiology
HP:0000006	Autosomal dominant inheritance
HP:0000007	Autosomal recessive inheritance

Study ID	Trait	P-value
GCST002222_7	LDL cholesterol	4×10⁻²⁶²
GCST008079_76	LDL cholesterol (alcohol interaction)	2×10⁻²⁷³
GCST008086_15	LDL cholesterol (drinkers)	4×10⁻¹⁹³
GCST002221_37	Cholesterol, total	5×10⁻²⁰²
GCST008077_86	LDL cholesterol levels	1×10⁻¹¹⁹
GCST002220_1	LDL cholesterol	3×10⁻¹¹⁵
GCST007931_29	HMG CoA reductase inhibitor use	8×10⁻¹¹⁶
GCST000759_25	LDL cholesterol	4×10⁻¹¹⁷
GCST000760_5	Cholesterol, total	7×10⁻⁹⁷
GCST005194_123	Coronary artery disease	5×10⁻⁴¹
GCST006034_28	Total cholesterol levels	8×10⁻⁴⁹
GCST006004_20	LDL cholesterol levels	4×10⁻⁴⁰
GCST000134_4	LDL cholesterol	2×10⁻⁵¹
GCST000533_4	Lipid metabolism phenotypes	2×10⁻³¹
GCST000285_5	Cholesterol, total	9×10⁻²⁴
GCST000132_5	LDL cholesterol	4×10⁻²⁶
GCST000287_2	LDL cholesterol	2×10⁻²⁶
GCST004787_69	Coronary artery disease	8×10⁻²²
GCST003116_38	Coronary artery disease	4×10⁻¹⁵
GCST002193_1	Abdominal aortic aneurysm	2×10⁻¹⁰
GCST003877_5	Abdominal aortic aneurysm	8×10⁻¹⁴
GCST007435_5	Carotid plaque	1×10⁻⁸
GCST001231_11	Carotid intima media thickness	1×10⁻⁷
GCST008474_20	Peripheral artery disease	1×10⁻¹⁰
GCST000340_9	Myocardial infarction (early onset)	2×10⁻⁹
GCST000998_25	Coronary heart disease	1×10⁻⁹
GCST002287_14	CAD or ischemic stroke	3×10⁻¹²
GCST002289_16	Coronary artery disease	3×10⁻¹¹
GCST006697_12	Parental longevity	2×10⁻⁶
GCST001273_2	Lp-PLA2 activity/mass	3×10⁻¹¹

Database	Identifiers/Data Retrieved
HGNC	Gene nomenclature, aliases
Ensembl	Gene, transcripts, exons, orthologs
NCBI Entrez	Gene ID, summary
OMIM	Disease gene reference
UniProt	Protein sequences, features
RefSeq	Transcript/protein accessions
CCDS	Consensus coding sequences
InterPro	Protein domains/families
PDB	3D structures
AlphaFold	Predicted structure
ClinVar	Clinical variants
SpliceAI	Splice predictions
AlphaMissense	Missense pathogenicity
Reactome	Biological pathways
Gene Ontology	Functional annotations
STRING	Protein interactions
IntAct	Molecular interactions
CollecTRI	TF-target relationships
SIGNOR	Signaling interactions
ChEMBL	Drug targets
PharmGKB	Pharmacogenomics
Bgee	Expression data
GWAS Catalog	Trait associations
HPO	Clinical phenotypes
MONDO	Disease ontology
GenCC	Gene-disease validity
Orphanet	Rare disease