Provide a comprehensive cross-database identifier and functional mapping reference for human SOD1. 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 SOD1. 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

Now let me compile the comprehensive SOD1 reference document.
SOD1 - Comprehensive Cross-Database Identifier and Functional Mapping Reference Human Superoxide Dismutase 1 [Cu-Zn]
Section 1: Gene Identifiers
DatabaseIdentifierDescription HGNC IDHGNC:11179Approved symbol: SOD1 HGNC Namesuperoxide dismutase 1Locus type: gene with protein product Ensembl GeneENSG00000142168Biotype: protein_coding NCBI Entrez Gene6647Type: protein-coding OMIM Gene147450Gene/locus ID Previous SymbolsALS, …

Feature	Value
Chromosome	21
Cytogenetic Band	21q22.11
Start Position	31,659,633
End Position	31,668,931
Strand	+ (forward)
Genomic Accession	NC_000021.9
Gene Length	9,299 bp

Transcript ID	Biotype	Start	End	Strand
ENST00000270142	protein_coding	31,659,693	31,668,931	+
ENST00000389995	protein_coding	31,659,666	31,668,931	+
ENST00000470944	protein_coding_CDS_not_defined	31,659,709	31,668,931	+
ENST00000476106	protein_coding_CDS_not_defined	31,659,693	31,667,341	+
ENST00000877328	protein_coding	31,659,668	31,668,927	+
ENST00000877329	protein_coding	31,659,677	31,668,928	+
ENST00000877330	protein_coding	31,659,688	31,668,923	+
ENST00000877331	protein_coding	31,659,693	31,668,922	+
ENST00000877332	protein_coding	31,659,693	31,668,680	+
ENST00000928717	protein_coding	31,659,633	31,668,931	+
ENST00000928718	protein_coding	31,659,648	31,668,931	+
ENST00000928719	protein_coding	31,659,693	31,668,931	+
ENST00000928720	protein_coding	31,659,651	31,668,677	+
ENST00000928721	protein_coding	31,659,687	31,668,683	+

Accession	Type	Status	MANE Select
NM_000454	mRNA	REVIEWED	Yes (Canonical)
NM_001181762	mRNA	REVIEWED	No

Accession	Status	MANE Select
NP_000445	REVIEWED	Yes
NP_012638	REVIEWED	No

Exon ID	Start	End	Strand	Length
ENSE00001507447	31,659,693	31,659,841	+	149 bp
ENSE00003492976	31,663,790	31,663,886	+	97 bp
ENSE00003624439	31,666,449	31,666,518	+	70 bp
ENSE00003555033	31,667,258	31,667,375	+	118 bp
ENSE00003902052	31,668,471	31,668,931	+	461 bp

SOD1 Gene Complete Identifier and Functional Mapping Reference

Structured Data Sources

Database	Identifier	Description
HGNC ID	HGNC:11179	Approved symbol: SOD1
HGNC Name	superoxide dismutase 1	Locus type: gene with protein product
Ensembl Gene	ENSG00000142168	Biotype: protein_coding
NCBI Entrez Gene	6647	Type: protein-coding
OMIM Gene	147450	Gene/locus ID
Previous Symbols	ALS, ALS1	Historical nomenclature
Aliases	IPOA, HEL-S-44, SOD, STAHP, hSod1

Accession	Status	Name
P00441	Reviewed (Swiss-Prot)	Superoxide dismutase [Cu-Zn]
H7BYH4	Unreviewed	-
V9HWC9	Unreviewed	-

Property	Value
Length	154 amino acids
Mass	15,936 Da
Alternative Names	Hydrogen sulfide oxidase, Superoxide dismutase 1

InterPro ID	Name	Type
IPR001424	SOD_Cu_Zn_dom	Domain
IPR018152	SOD_Cu/Zn_BS	Binding_site
IPR024134	SOD_Cu/Zn_/chaperone	Family
IPR036423	SOD-like_Cu/Zn_dom_sf	Homologous_superfamily

Method	Count
X-ray Diffraction	~135
Solution NMR	~12
Solid-State NMR	1
Cryo-EM	~6

PDB ID	Method	Resolution (Å)	Title
4A7U	X-RAY	0.98	I113T mutant complexed with adrenaline
4A7V	X-RAY	1.00	I113T mutant complexed with dopamine
2WYT	X-RAY	1.00	L38V SOD1 mutant
1MFM	X-RAY	1.02	Monomeric human SOD mutant at atomic resolution
4A7S	X-RAY	1.06	I113T mutant complexed with 5-Fluorouridine
2C9V	X-RAY	1.07	Atomic resolution Cu-Zn human SOD
2V0A	X-RAY	1.15	Atomic resolution crystal structure
4A7Q	X-RAY	1.22	I113T mutant complexed with diazepan quinazoline
2C9S	X-RAY	1.24	Zn-Zn human SOD
2C9U	X-RAY	1.24	As-isolated Cu-Zn human SOD
4A7G	X-RAY	1.24	I113T mutant complexed with methylpiperazin quinazoline
5J0F	X-RAY	1.25	Monomeric SOD, loops deleted, circular permutant
6Z3V	X-RAY	1.25	A4V mutant bound with benzoisoselenazolone
4BCY	X-RAY	1.27	Monomeric SOD, mutation H43F
5O3Y	X-RAY	1.30	SOD1 bound to Ebsulfur
1OZU	X-RAY	1.30	S134N familial ALS mutant
2VR6	X-RAY	1.30	G85R ALS mutant
7T8G	X-RAY	1.35	G93A mutant bound with MR6-8-2
2VR8	X-RAY	1.36	G85R ALS mutant
7T8E	X-RAY	1.40	G93A mutant
7T8F	X-RAY	1.40	G93A mutant bound with Ebselen
6Z4O	X-RAY	1.40	A4V mutant bound with benzyl benzoisoselenazolone
5WMJ	X-RAY	1.40	KVWGSI segment residues 30-35
3GZQ	X-RAY	1.40	A4V Metal-free variant
6Z4G	X-RAY	1.45	A4V mutant bound with ebselen
6Z4K	X-RAY	1.45	A4V mutant bound with benzyl benzoisoselenazolone
4A7T	X-RAY	1.45	I113T mutant complexed with isoproteranol
2XJK	X-RAY	1.45	Monomeric human Cu,Zn SOD
2WZ5	X-RAY	1.50	L38V mutant complexed with L-methionine
5O40	X-RAY	1.50	SOD1 bound to Ebselen
7T8H	X-RAY	1.50	G93A mutant bound with MR6-26-2
3H2P	X-RAY	1.55	D124V variant
2WZ6	X-RAY	1.55	G93A mutant complexed with Quinazoline
6Z4J	X-RAY	1.55	A4V mutant bound with benzyl benzoisoselenazolone
6Z4M	X-RAY	1.55	A4V mutant bound with pyridinylmethyl benzoisoselenazolone
2XJL	X-RAY	1.55	Monomeric SOD without Cu ligands
2VR7	X-RAY	1.58	G85R ALS mutant
1UXL	X-RAY	1.60	I113T mutant
5J0C	X-RAY	1.60	Monomeric SOD circular permutant P2/3
6Z4I	X-RAY	1.60	A4V mutant bound with benzyl benzoisoselenazolone
6Z4L	X-RAY	1.60	A4V mutant bound with pyridinylmethyl benzoisoselenazolone
8CCX	X-RAY	1.67	Human SOD1 in complex with S-XL6 cross-linker
1PU0	X-RAY	1.70	Human Cu,Zn SOD structure
2WYZ	X-RAY	1.70	L38V mutant complexed with UMP
2GBT	X-RAY	1.70	C6A/C111A mutant
2WZ0	X-RAY	1.72	L38V mutant complexed with aniline
3K91	X-RAY	1.75	Polysulfane Bridge in Cu-Zn SOD
8Q6M	X-RAY	1.77	Human SOD1 low dose data collection
1HL5	X-RAY	1.80	Holo type human Cu,Zn SOD
1PTZ	X-RAY	1.80	H43R familial ALS mutant

PDB ID	Resolution	Description
7VZF	2.95 Å	Amyloid fibril formed by full-length human SOD1
8IHU	2.97 Å	Amyloid fibril from G85R mutation
8IHV	3.11 Å	Amyloid fibril from H46R mutation
9IYD	3.09 Å	Amyloid fibril from G93A mutation
9IYJ	2.92 Å	Amyloid fibril from D101N mutation
9JBO	3.39 Å	Human SOD1 (WT) amyloid filament
9JBP	3.18 Å	Human SOD1 (C6A/C111A) amyloid filament
9LI1	4.74 Å	Human SOD1 (G93A) amyloid filament

Species	Gene ID	Symbol	Genome
Mouse (Mus musculus)	ENSMUSG00000022982	Sod1	mus_musculus
Rat (Rattus norvegicus)	ENSRNOG00000002115	Sod1	rattus_norvegicus
Zebrafish (Danio rerio)	ENSDARG00000043848	sod1	danio_rerio
Fruit fly (Drosophila melanogaster)	FBGN0003462	Sod1	drosophila_melanogaster
Worm (C. elegans)	WBGENE00004933	sod-1	-

Classification	Count
Pathogenic	~45
Likely pathogenic	~35
Pathogenic/Likely pathogenic	~25
Uncertain significance (VUS)	~60
Conflicting classifications	~15
Likely benign	~80
Benign	~35
Benign/Likely benign	~10

ClinVar ID	HGVS Notation	Classification	Condition
14763	c.14C>T (p.Ala5Val)	Pathogenic	ALS
14765	c.13G>A (p.Ala5Thr)	Pathogenic	ALS
14771	c.20G>T (p.Cys7Phe)	Pathogenic	ALS
1500887	c.19T>A (p.Cys7Ser)	Pathogenic	ALS
1500897	c.19T>G (p.Cys7Gly)	Likely pathogenic	ALS
2138373	c.10A>G (p.Lys4Glu)	Pathogenic	ALS
3345429	c.32G>C (p.Gly11Ala)	Pathogenic	ALS
14780	c.37G>C (p.Gly13Arg)	Likely pathogenic	ALS
14752	c.112G>A (p.Gly38Arg)	Pathogenic	ALS
14753	c.115C>G (p.Leu39Val)	Pathogenic/Likely pathogenic	ALS
2138374	c.116T>A (p.Leu39Gln)	Likely pathogenic	ALS
14754	c.124G>A (p.Gly42Ser)	Pathogenic	ALS
14755	c.125G>A (p.Gly42Asp)	Pathogenic	ALS
14756	c.131A>G (p.His44Arg)	Pathogenic	ALS
14781	c.137T>G (p.Phe46Cys)	Pathogenic	ALS
14764	c.140A>G (p.His47Arg)	Pathogenic	ALS
1018905	c.143T>C (p.Val48Ala)	Likely pathogenic	ALS
3349795	c.142G>T (p.Val48Phe)	Likely pathogenic	ALS
1514873	c.43G>C (p.Val15Leu)	Pathogenic/Likely pathogenic	ALS
1477719	c.49G>T (p.Gly17Cys)	Likely pathogenic	ALS
1459352	c.62T>G (p.Phe21Cys)	Pathogenic	ALS
1709733	c.197A>G (p.Asn66Ser)	Pathogenic/Likely pathogenic	ALS
14782	c.242A>G (p.His81Arg)	Pathogenic	ALS
2059610	c.241C>T (p.His81Tyr)	Likely pathogenic	ALS
14775	c.253T>G (p.Leu85Val)	Pathogenic	ALS
14758	c.256G>C (p.Gly86Arg)	Pathogenic	ALS
1191297	c.269C>T (p.Ala90Val)	Pathogenic/Likely pathogenic	ALS
1030809	c.230A>T (p.Asp77Val)	Pathogenic/Likely pathogenic	ALS
14759	c.280G>T (p.Gly94Cys)	Pathogenic	ALS
14760	c.281G>C (p.Gly94Ala)	Pathogenic	ALS
14784	c.280G>C (p.Gly94Arg)	Pathogenic	ALS
1072003	c.281G>A (p.Gly94Asp)	Pathogenic	ALS
2634277	c.280G>A (p.Gly94Ser)	Pathogenic	ALS
2197104	c.286G>A (p.Ala96Thr)	Likely pathogenic	ALS
14761	c.302A>G (p.Glu101Gly)	Pathogenic	ALS
2736984	c.304G>A (p.Asp102Asn)	Pathogenic	ALS
1066874	c.304G>C (p.Asp102His)	Pathogenic	ALS
14767	c.313A>T (p.Ile105Phe)	Likely pathogenic	ALS
14757	c.319C>G (p.Leu107Val)	Pathogenic	ALS
2138377	c.344G>C (p.Gly115Ala)	Pathogenic	ALS
2138376	c.335G>A (p.Cys112Tyr)	Pathogenic	ALS
14762	c.338T>C (p.Ile113Thr)	Pathogenic	ALS
197145	c.341T>C (p.Ile114Thr)	Pathogenic/Likely pathogenic	ALS
2018599	c.342T>G (p.Ile114Met)	Likely pathogenic	ALS
1489352	c.358G>C (p.Val120Leu)	Pathogenic/Likely pathogenic	ALS
1067619	c.374A>T (p.Asp125Val)	Pathogenic/Likely pathogenic	ALS
1212596	c.374A>G (p.Asp125Gly)	Pathogenic/Likely pathogenic	ALS
14777	c.380T>A (p.Leu127Ter)	Pathogenic	ALS
2138379	c.380T>C (p.Leu127Ser)	Pathogenic	ALS
1064422	c.396T>G (p.Asn132Lys)	Likely pathogenic	ALS

Position	Protein Variant	AM Score	Classification
21:31659790	C7W	0.993	likely_pathogenic
21:31659788	C7R	0.984	likely_pathogenic
21:31659789	C7Y	0.983	likely_pathogenic
21:31659825	I19N	0.982	likely_pathogenic
21:31659831	F21S	0.986	likely_pathogenic
21:31659782	A5P	0.973	likely_pathogenic
21:31659783	A5D	0.973	likely_pathogenic
21:31659818	G17R	0.991	likely_pathogenic
21:31659818	G17C	0.972	likely_pathogenic
21:31659825	I19S	0.969	likely_pathogenic
21:31659806	V30E	0.962	likely_pathogenic
21:31659819	G17V	0.959	likely_pathogenic
21:31659825	I19T	0.945	likely_pathogenic
21:31659789	C7F	0.941	likely_pathogenic
21:31659838	Q23H	0.941	likely_pathogenic
21:31659818	G17S	0.940	likely_pathogenic
21:31659838	Q23H	0.941	likely_pathogenic
21:31659795	L9Q	0.943	likely_pathogenic
21:31659795	L9R	0.938	likely_pathogenic
21:31659795	L9P	0.975	likely_pathogenic
21:31659831	F21C	0.921	likely_pathogenic
21:31659830	F21L	0.918	likely_pathogenic
21:31659837	Q23P	0.900	likely_pathogenic
21:31659786	V6E	0.892	likely_pathogenic
21:31659813	V15E	0.873	likely_pathogenic
21:31659782	A5T	0.861	likely_pathogenic
21:31659800	G11R	0.857	likely_pathogenic
21:31659819	G17A	0.849	likely_pathogenic
21:31659783	A5V	0.840	likely_pathogenic
21:31659831	F21Y	0.815	likely_pathogenic
21:31659800	G11C	0.783	likely_pathogenic
21:31659837	Q23L	0.772	likely_pathogenic
21:31659801	G11D	0.766	likely_pathogenic
21:31659801	G11V	0.746	likely_pathogenic
21:31659824	I19F	0.746	likely_pathogenic
21:31659837	Q23R	0.732	likely_pathogenic
21:31659785	V6M	0.724	likely_pathogenic
21:31659806	V30G	0.721	likely_pathogenic
21:31659786	V6G	0.718	likely_pathogenic
21:31659792	V8E	0.710	likely_pathogenic

Variant	Effect	Delta Score
21:31659838:G:GT	donor_gain	0.98
21:31659847:GGC:G	donor_gain	0.98
21:31659853:G:GT	donor_gain	0.98
21:31659853:G:T	donor_gain	0.97
21:31660356:G:GT	donor_gain	0.97
21:31659768:T:G	donor_gain	0.95
21:31659857:G:GT	donor_gain	0.94
21:31659838:GAAG:G	donor_gain	0.94
21:31659818:G:GT	donor_gain	0.94
21:31659837:AGAAG:A	donor_loss	0.92
21:31659838:GAAGG:G	donor_loss	0.92
21:31659839:AAG:A	donor_loss	0.92
21:31659840:AGG:A	donor_loss	0.92
21:31659841:GGC:G	donor_loss	0.92
21:31659842:G:A	donor_loss	0.92
21:31660015:GTGC:G	donor_gain	0.92
21:31660016:TGCT:T	donor_gain	0.92
21:31660017:GCTG:G	donor_gain	0.92
21:31659800:G:GT	donor_gain	0.91
21:31659843:C:CT	donor_loss	0.91
21:31660017:GC:G	donor_gain	0.91
21:31660466:G:T	donor_gain	0.91
21:31660384:GC:G	donor_gain	0.90
21:31659848:G:T	donor_gain	0.90
21:31659861:C:T	donor_gain	0.89
21:31660390:A:T	donor_gain	0.87
21:31659982:C:A	donor_gain	0.85
21:31659999:GCG:G	donor_gain	0.85
21:31659811:A:AG	donor_gain	0.84
21:31659812:G:GG	donor_gain	0.84
21:31660466:G:GT	donor_gain	0.83
21:31659782:G:GT	donor_gain	0.82
21:31659819:G:T	donor_gain	0.81
21:31659845:A:AA	donor_loss	0.79
21:31659846:G:A	donor_loss	0.78
21:31660389:G:GT	donor_gain	0.77
21:31659839:A:T	donor_gain	0.77
21:31659782:GCCGT:G	donor_gain	0.73
21:31660000:C:CA	donor_gain	0.73
21:31659998:AGC:A	donor_gain	0.72

Pathway ID	Pathway Name	Disease Pathway
R-HSA-114608	Platelet degranulation	No
R-HSA-3299685	Detoxification of Reactive Oxygen Species	No
R-HSA-8950505	Gene and protein expression by JAK-STAT signaling after Interleukin-12 stimulation	No

GO ID	Term
GO:0004784	superoxide dismutase activity
GO:0005507	copper ion binding
GO:0008270	zinc ion binding
GO:0030346	protein phosphatase 2B binding
GO:0031267	small GTPase binding
GO:0042802	identical protein binding
GO:0042803	protein homodimerization activity
GO:0051087	protein-folding chaperone binding

GO ID	Term
GO:0005576	extracellular region
GO:0005615	extracellular space
GO:0005634	nucleus
GO:0005654	nucleoplasm
GO:0005737	cytoplasm
GO:0005739	mitochondrion
GO:0005758	mitochondrial intermembrane space
GO:0005759	mitochondrial matrix
GO:0005764	lysosome
GO:0005777	peroxisome
GO:0005829	cytosol
GO:0031045	dense core granule
GO:0031410	cytoplasmic vesicle
GO:0032839	dendrite cytoplasm
GO:0032991	protein-containing complex
GO:0043025	neuronal cell body
GO:0070062	extracellular exosome
GO:1904115	axon cytoplasm

GO ID	Term
GO:0000303	response to superoxide
GO:0001541	ovarian follicle development
GO:0001819	positive regulation of cytokine production
GO:0001890	placenta development
GO:0001895	retina homeostasis
GO:0001975	response to amphetamine
GO:0002262	myeloid cell homeostasis
GO:0006749	glutathione metabolic process
GO:0006801	superoxide metabolic process
GO:0006879	intracellular iron ion homeostasis
GO:0006915	apoptotic process
GO:0007283	spermatogenesis
GO:0007566	embryo implantation
GO:0007605	sensory perception of sound
GO:0007626	locomotory behavior
GO:0008089	anterograde axonal transport
GO:0008090	retrograde axonal transport
GO:0008217	regulation of blood pressure
GO:0008340	determination of adult lifespan
GO:0009408	response to heat
GO:0009410	response to xenobiotic stimulus
GO:0019226	transmission of nerve impulse
GO:0019228	neuronal action potential
GO:0019430	removal of superoxide radicals
GO:0042542	response to hydrogen peroxide
GO:0042554	superoxide anion generation
GO:0043065	positive regulation of apoptotic process
GO:0050665	hydrogen peroxide biosynthetic process
GO:0072593	reactive oxygen species metabolic process
GO:0099610	action potential initiation

UniProt B	Gene	Score
P00441	SOD1 (self)	992
P35637	FUS	992
Q13148	TARDBP	989
P10415	BCL2	977
P21796	VDAC1	951
A0A087WTZ4	CCS	926
O00244	ATXN2	915
Q96LT7	C9orf72	898
Q96Q42	ALS2	888
P34932	HSPA4	887
Q13501	SQSTM1	884
Q96CV9	OPTN	872
P04839	CYBB	869
P37840	SNCA	860
P42858	HTT	845
Q9UHD9	UBQLN2	845
O95292	VAPB	842
Q96SL4	GPX4	828
Q8TED1	THEM4	826
P22352	GPX3	822
P04179	SOD2	821
Q99497	PARK7	820
P18283	GPX2	819
O75715	ELP3	816
P59796	GPX6	816
P05067	APP	802
F5H3C5	CHCHD10	796
P12036	NEFH	785
Q7Z333	SETX	777
P07196	NEFL	776
P02751	FN1	771
P00354	GAPDH	769
P30044	PRDX5	762
Q76N89	KIF5A	747
P09601	HMOX1	741
P28329	CHAT	741
Q92562	CHAC1	739
P55072	VCP	736
P11142	HSPA8	733
P04156	PRNP	731
P43004	SCN2A	731
P31945	BCKDHA	729
P00390	GSR	723
Q99683	M6PR	722
P14136	GFAP	719
Q9Y5S8	TRPM7	719
P07900	HSP90AA1	712
P48506	GCLC	711
Q14061	COX17	708
P08238	HSP90AB1	700

Interactor A	Interactor B	Type	Confidence
SOD1	SOD1	direct interaction	0.980
CCS	SOD1	physical association	0.830
HSPA5	SOD1	physical association	0.690
PSMC1	SOD1	physical association	0.670
PRDX5	SOD1	physical association	0.610
BCL2L13	SOD1	physical association	0.590
MKL1	SOD1	physical association	0.560
GAPDH	SOD1	physical association	0.500
APOL2	BPNT1	association	0.530

UniProt ID	Top Similarity	Avg Similarity
P00441	1.000	0.996
P60052	1.000	0.996
P61851	1.000	0.995
P61852	1.000	0.995
P61853	1.000	0.995
P61854	1.000	0.995
Q8HXQ0	1.000	0.995
Q8HXQ1	1.000	0.995
Q8HXQ2	1.000	0.995
Q9U4X3	0.9999	0.995
Q9U4X5	0.9999	0.995
Q9U4X2	0.9998	0.995
P00442	0.9997	0.995
Q52RN5	0.9997	0.995
Q8HXP8	0.9996	0.995
Q8HXP9	0.9996	0.996
Q5FB29	0.9994	0.995
Q9U4X4	0.9994	0.995
Q9HEY7	0.9992	0.994
P09670	0.9992	0.995

UniProt ID	Top Identity	Top Bitscore
P00441	100.0%	317.0
A2XGP6	100.0%	308.0
B6QEB3	100.0%	312.0
P60052	100.0%	317.0
P61851-54	100.0%	315.0
A2QMY6	99.4%	307.0
P85978	99.4%	307.0
P00442	98.7%	308.0
P23345	98.7%	303.0
P23346	98.7%	303.0
P09670	98.0%	305.0
P25842	97.3%	383.0
P07632	96.8%	306.0
P08228	96.8%	306.0
O46412	95.4%	293.0
O22373	94.1%	291.0
P10791	93.1%	282.0
P54407	93.1%	282.0
C0HK70	92.8%	288.0
P24704	92.8%	288.0

TF Gene	Regulation	Confidence
SP1	Activation	High
EGR1	Activation	High
CEBPB	Activation	High
PPARG	Activation	High
NFKB	-	High
YY1	-	High
CEBPA	Unknown	High
CEBPG	-	High
ELK1	Unknown	High
AP1	-	High
KLF4	Repression	High
CEBPD	Activation	-
BTG2	Activation	-
MSX2	Activation	-
MTF1	Activation	-
PPARD	Activation	-
TFAP2A	Activation	-
JUN	-	-
WT1	Activation	Low
NFE2L2	Activation	Low
AHR	-	Low
FOXO3	-	Low
NFKBIA	-	Low

Regulator	Effect	Mechanism	Direct
CEBPD	Up-regulates	transcriptional regulation	No
EGR1	Up-regulates	transcriptional regulation	No
WT1	Up-regulates	transcriptional regulation	Yes
SP1	Up-regulates	transcriptional regulation	No
KLF4	Down-regulates	transcriptional regulation	No
MTF1	Up-regulates	transcriptional regulation	No
BTG2	Up-regulates	transcriptional regulation	No
NFE2L2	Up-regulates	transcriptional regulation	Yes
PPARD	Up-regulates	transcriptional regulation	No
CHEK2	Up-regulates activity	phosphorylation	Yes
DIP2A	Up-regulates activity	binding	Yes
SQSTM1	Down-regulates	binding	Yes
MIF	Down-regulates	relocalization	Yes
MARCHF5	Down-regulates	ubiquitination	Yes

Target	Effect	Mechanism
Protein_aggregates	Up-regulates	-
S100A4	Up-regulates	-
DERL1	Down-regulates activity	binding
ERN1	Up-regulates activity	binding
EIF2AK3	Up-regulates activity	binding
ER stress	Up-regulates	-
MAP3K5	Up-regulates	-
VDAC1	Down-regulates activity	binding
BCL2	Up-regulates activity	binding
KARS1	Down-regulates	binding
superoxide	Down-regulates	chemical modification
dioxygen	Up-regulates	chemical modification
hydrogen peroxide	Up-regulates	chemical modification

Target ID	Type	Description
CHEMBL2354	SINGLE PROTEIN	Superoxide dismutase [Cu-Zn]
CHEMBL4106171	PROTEIN FAMILY	Superoxide dismutase 1/2

ChEMBL ID	Name	Type
CHEMBL1672028	1,4-BIS(3'-PYRAZOLYLAMINO)BENZO[G]PHTHALAZINE	Small molecule
CHEMBL1643541	-	Small molecule
CHEMBL1643556	-	Small molecule
CHEMBL1643557	-	Small molecule
CHEMBL1782791	-	Small molecule
CHEMBL1939222	-	Small molecule
CHEMBL2165601-14	-	Small molecules
CHEMBL2179265	-	Small molecule
CHEMBL2179266	-	Small molecule
CHEMBL2179268	-	Small molecule
CHEMBL272641	-	Small molecule
CHEMBL3355357	-	Small molecule
CHEMBL3355358	-	Small molecule
CHEMBL4127450	-	Small molecule

Field	Value
PharmGKB ID	PA334
VIP Gene	Yes
Has CPIC Guideline	No
Has Variant Annotation	Yes

Metric	Value
Expression Breadth	Ubiquitous
Total Conditions Present	304
Total Conditions Absent	1
Max Expression Score	99.89
Average Expression Score	98.64
Gold Quality Calls	303

Tissue/Structure	UBERON ID	Score	Quality
Pons	UBERON:0000988	99.89	gold
Dorsal root ganglion	UBERON:0000044	99.81	gold
Substantia nigra pars compacta	UBERON:0001965	99.81	gold
Lateral nuclear group of thalamus	UBERON:0002736	99.78	gold
Superior vestibular nucleus	UBERON:0007227	99.78	gold
Substantia nigra pars reticulata	UBERON:0001966	99.78	gold
Right lobe of liver	UBERON:0001114	99.71	gold
Brodmann area 10	UBERON:0013541	99.70	gold
Right adrenal gland cortex	UBERON:0035827	99.69	gold
Hypothalamus	UBERON:0001898	99.68	gold
Right adrenal gland	UBERON:0001233	99.68	gold
Brodmann area 9	UBERON:0013540	99.67	gold
Dorsolateral prefrontal cortex	UBERON:0009834	99.67	gold
Frontal pole	UBERON:0002795	99.67	gold
Renal medulla	UBERON:0000362	99.66	gold
Adrenal cortex	UBERON:0001235	99.66	gold
Left adrenal gland	UBERON:0001234	99.66	gold
Bronchial epithelial cell	CL:0002328	99.65	gold
Left adrenal gland cortex	UBERON:0035825	99.64	gold
Trigeminal ganglion	UBERON:0001675	99.64	gold
Caudate nucleus	UBERON:0001873	99.64	gold
Anterior cingulate cortex	UBERON:0009835	99.63	gold
Cingulate cortex	UBERON:0003027	99.63	gold
Right frontal lobe	UBERON:0002810	99.62	gold
Nucleus accumbens	UBERON:0001882	99.62	gold
Midbrain	UBERON:0001891	99.62	gold
Prefrontal cortex	UBERON:0000451	99.61	gold
Epithelium of bronchus	UBERON:0002031	99.61	gold
Ventral tegmental area	UBERON:0002691	99.61	gold
Lateral globus pallidus	UBERON:0002476	99.61	gold

Dataset ID	Description	Cell Count
E-MTAB-10283	Endometrial organoids time course	574,689
E-GEOD-139324	Viral- and carcinogen-derived head and neck cancer	204,315
E-MTAB-8207	Monocyte surface IL7R expression	175,040
E-GEOD-149689	COVID-19 and Influenza immunophenotyping	166,852
E-MTAB-8495	Human biliary tree	160,459
E-HCAD-29	GM-CSF-producing T helper cells	78,686
E-HCAD-9	Human liver cellular landscape	79,612
E-CURD-95	Clonally expanded EOMES+ Tr1-like cells in tumors	87,767
E-MTAB-9435	IDHwt glioblastoma tumors	62,867
E-CURD-112	Human fetal bone marrow haematopoiesis	56,592
E-MTAB-9467	Dengue virus infection PBMCs	55,600
E-HCAD-23	Human first-trimester placenta	41,132
E-MTAB-10553	Human liver cells	24,355
E-MTAB-8559	Ovarian cancer ex vivo models	20,982
E-MTAB-8911	Graft-Versus-Host Disease T-lymphocytes	19,075
E-GEOD-84465	Glioblastoma infiltrating cells	3,588
E-CURD-89	Colon lamina propria immune cells	1,526
E-GEOD-75688	Primary breast cancer cells	549

Disease	OMIM/Orphanet	Inheritance	Classification	Submitter
Amyotrophic lateral sclerosis type 1	OMIM:105400	Autosomal dominant	Strong	Genomics England PanelApp
Amyotrophic lateral sclerosis type 1	OMIM:105400	Autosomal dominant	Strong	Labcorp Genetics
Amyotrophic lateral sclerosis type 1	OMIM:105400	Autosomal recessive	Strong	Labcorp Genetics
Spastic tetraplegia and axial hypotonia, progressive	OMIM:618598	Autosomal recessive	Strong	Labcorp Genetics
Spastic tetraplegia and axial hypotonia, progressive	OMIM:618598	Autosomal recessive	Limited	Ambry Genetics
Amyotrophic lateral sclerosis	ORPHANET:803	Autosomal dominant	Supportive	Orphanet

Field	Value
Orphanet ID	803
Disease Name	Amyotrophic lateral sclerosis
Type	Disease
Total Genes	36
Phenotype Count	47

HPO ID	Phenotype Term
HP:0007354	Amyotrophic lateral sclerosis
HP:0003202	Skeletal muscle atrophy
HP:0001324	Muscle weakness
HP:0002380	Fasciculations
HP:0001260	Dysarthria
HP:0002015	Dysphagia
HP:0002878	Respiratory failure
HP:0001347	Hyperreflexia
HP:0003487	Babinski sign
HP:0001257	Spasticity
HP:0002061	Lower limb spasticity
HP:0002313	Spastic paraparesis
HP:0001285	Spastic tetraparesis
HP:0002180	Neurodegeneration
HP:0002398	Degeneration of anterior horn cells
HP:0002314	Degeneration of lateral corticospinal tracts
HP:0007373	Motor neuron atrophy
HP:0003693	Distal amyotrophy
HP:0008955	Progressive distal muscular atrophy
HP:0003484	Upper limb muscle weakness
HP:0007340	Lower limb muscle weakness
HP:0003324	Generalized muscle weakness
HP:0003470	Paralysis
HP:0007024	Pseudobulbar paralysis
HP:0001308	Tongue fasciculations
HP:0012473	Tongue atrophy
HP:0002145	Frontotemporal dementia
HP:0100543	Cognitive impairment
HP:0002463	Language impairment
HP:0001344	Absent speech
HP:0000708	Atypical behavior
HP:0000712	Emotional lability
HP:0000716	Depression
HP:0000739	Anxiety
HP:0001251	Ataxia
HP:0001272	Cerebellar atrophy
HP:0001276	Hypertonia
HP:0002267	Exaggerated startle response
HP:0002411	Myokymia
HP:0003394	Muscle spasm
HP:0011448	Ankle clonus
HP:0031993	Hoffmann sign
HP:0033683	Jaw hyperreflexia
HP:0007256	Abnormal pyramidal sign
HP:0001618	Dysphonia
HP:0002094	Dyspnea
HP:0012764	Orthopnea
HP:0025425	Laryngospasm
HP:0030878	Abnormality on pulmonary function testing
HP:0010535	Sleep apnea

Database	Data Retrieved
HGNC	Gene nomenclature, identifiers
Ensembl	Gene/transcript/exon coordinates
NCBI Entrez	Gene summary, synonyms
OMIM	Disease associations
UniProt	Protein sequence, function
InterPro	Protein domains
PDB	3D structures (154 entries)
AlphaFold	Predicted structure
ClinVar	Clinical variants (301 entries)
AlphaMissense	Pathogenicity predictions (1,008)
SpliceAI	Splice predictions (688)
Reactome	Pathway membership
Gene Ontology	Functional annotations (87)
STRING	Protein interactions (5,892)
IntAct	Molecular interactions (359)
CollecTRI	TF-target relationships
SIGNOR	Signaling network
ChEMBL	Drug target data
PharmGKB	Pharmacogenomics
Bgee	Expression data
Single Cell Expression Atlas	scRNA-seq data
GenCC	Gene-disease curation
HPO	Phenotype annotations
Orphanet	Rare disease data
GWAS Catalog	Genetic associations

Category	Count
Ensembl Transcripts	14
UniProt Proteins	3 (P00441 canonical)
PDB Structures	154
ClinVar Variants	301
AlphaMissense Predictions	1,008
SpliceAI Predictions	688
GO Annotations	87
STRING Interactions	5,892
IntAct Interactions	359
Transcriptional Regulators	23
HPO Phenotypes	72
Single-Cell Datasets	18