Provide a comprehensive cross-database identifier and functional mapping reference for human RET. 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 RET. 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 reference document for RET.
RET - COMPREHENSIVE CROSS-DATABASE IDENTIFIER AND FUNCTIONAL MAPPING REFERENCE ╔══════════════════════════════════════════════════════════════════════════════╗ ║ HUMAN RET PROTO-ONCOGENE ║ ║ Complete Identifier and Functional Mapping Reference ║ ╚══════════════════════════════════════════════════════════════════════════════╝
Section 1: Gene Identifiers Core Gene Identifiers
DatabaseIdentifierDescription HGNCHGNC:9967Approved …

Attribute	Value
Chromosome	10
Cytogenetic Band	10q11.21
Start Position	43,077,026
End Position	43,130,351
Strand	+ (positive)
Gene Span	53,326 bp

Attribute	Value
Locus Group	protein-coding gene
Locus Type	gene with protein product
Status	Approved
Gene Groups	Cadherin related; Receptor tyrosine kinases

Type	Values
Current Aliases	PTC, CDHF12, RET51, CDHR16
Previous Symbols	HSCR1, MEN2A, MTC1, MEN2B
Previous Names	Multiple endocrine neoplasia and medullary thyroid carcinoma 1; Hirschsprung disease 1

Transcript ID	Biotype	Start	End	UTR5	UTR3
ENST00000355710	protein_coding	43,077,069	43,130,351	43,077,069-43,077,258	43,128,270-43,130,351
ENST00000340058	protein_coding	43,077,069	43,127,504	43,077,069-43,077,258	43,126,755-43,127,504
ENST00000498820	protein_coding	43,077,074	43,114,593	43,077,074-43,077,258	-
ENST00000615310	protein_coding	43,077,086	43,130,271	43,077,086-43,077,258	43,126,755-43,130,271
ENST00000638465	protein_coding	43,077,069	43,102,835	43,077,069-43,077,258	43,102,406-43,102,835
ENST00000640619	protein_coding	43,077,069	43,102,839	43,077,069-43,077,258	43,102,806-43,102,839
ENST00000671844	nonsense_mediated_decay	43,077,064	43,127,435	43,077,064-43,077,258	43,126,575-43,127,435
ENST00000672389	nonsense_mediated_decay	43,077,069	43,126,775	43,077,069-43,077,258	43,126,575-43,126,775
ENST00000683007	retained_intron	43,104,753	43,130,271	-	-
ENST00000683278	protein_coding	43,077,069	43,102,839	43,077,069-43,077,258	43,102,406-43,102,839
ENST00000683872	retained_intron	43,109,207	43,120,912	-	-
ENST00000684216	protein_coding	43,077,069	43,102,839	43,077,069-43,077,258	43,102,806-43,102,839
ENST00000713926	protein_coding	43,077,068	43,127,504	43,077,068-43,077,258	43,126,755-43,127,504
ENST00000935252	protein_coding	43,077,026	43,130,351	43,077,026-43,077,258	43,128,270-43,130,351
ENST00000935253	protein_coding	43,077,066	43,130,351	43,077,066-43,077,258	43,128,270-43,130,351
ENST00000935254	protein_coding	43,077,077	43,130,351	43,077,077-43,077,258	43,128,270-43,130,351
ENST00000935255	protein_coding	43,077,078	43,130,351	43,077,078-43,077,258	43,128,270-43,130,351

RefSeq ID	Status	MANE Select
NM_020975	REVIEWED	✓ YES (Canonical)
NM_020630	REVIEWED	No
NM_001355216	REVIEWED	No
NM_001406743-NM_001406794	REVIEWED	No

RET Gene Complete Identifier and Functional Mapping Reference

Structured Data Sources

Database	Identifier	Description
HGNC	HGNC:9967	Approved symbol: RET
HGNC Name	ret proto-oncogene	Full approved name
Ensembl Gene	ENSG00000165731	Ensembl gene ID
NCBI Entrez Gene	5979	NCBI Gene ID
OMIM	164761	OMIM gene/locus ID

Exon ID	Start	End	Length (bp)
ENSE00004021796	43,077,069	43,077,331	263
ENSE00001365997	43,100,459	43,100,722	264
ENSE00001095923	43,102,342	43,102,629	288
ENSE00001095946	43,104,952	43,105,193	242
ENSE00001095907	43,106,376	43,106,571	196
ENSE00001095904	43,109,031	43,109,230	200
ENSE00001312192	43,111,207	43,111,465	259
ENSE00001164816	43,112,099	43,112,224	126
ENSE00001164807	43,112,853	43,112,963	111
ENSE00001164798	43,113,556	43,113,675	120
ENSE00001164787	43,114,480	43,114,736	257
ENSE00001095944	43,116,584	43,116,731	148
ENSE00001164770	43,118,373	43,118,480	108
ENSE00004021792	43,119,531	43,119,745	215
ENSE00004021793	43,120,081	43,120,203	123
ENSE00002515890	43,121,946	43,122,016	71
ENSE00002442774	43,123,671	43,123,808	138
ENSE00002444663	43,124,883	43,124,982	100
ENSE00004021789	43,126,575	43,126,722	148
ENSE00001386034	43,128,112	43,130,351	2,240

UniProt ID	Type	Status	Description
P07949	Canonical	Reviewed (Swiss-Prot)	Proto-oncogene tyrosine-protein kinase receptor Ret
A0A087WWB1	Isoform	TrEMBL	Alternative isoform
A0A1W2PPN7	Isoform	TrEMBL	Alternative isoform
A0A1W2PSA1	Isoform	TrEMBL	Alternative isoform
A0A5F9ZHB7	Isoform	TrEMBL	Alternative isoform
A0A5F9ZHR6	Isoform	TrEMBL	Alternative isoform
A0A804HIK7	Isoform	TrEMBL	Alternative isoform
A0A804HL71	Isoform	TrEMBL	Alternative isoform
A0AAQ5BH28	Isoform	TrEMBL	Alternative isoform
C9JYL6	Isoform	TrEMBL	Alternative isoform

Property	Value
Length	1,114 amino acids
Mass	124,319 Da
Names	Proto-oncogene tyrosine-protein kinase receptor Ret
Alternative Names	Cadherin family member 12; Proto-oncogene c-Ret

RefSeq ID	Status	MANE Select
NP_066124	REVIEWED	✓ YES
NP_065681	REVIEWED	No
NP_001342145	REVIEWED	No

InterPro ID	Name	Type
IPR000719	Prot_kinase_dom	Domain
IPR001245	Ser-Thr/Tyr_kinase_cat_dom	Domain
IPR002126	Cadherin-like_dom	Domain
IPR008266	Tyr_kinase_AS	Active_site
IPR011009	Kinase-like_dom_sf	Homologous_superfamily
IPR015919	Cadherin-like_sf	Homologous_superfamily
IPR016249	Tyr_kinase_Ret_rcpt	Family
IPR017441	Protein_kinase_ATP_BS	Binding_site
IPR020635	Tyr_kinase_cat_dom	Domain
IPR040667	Ret_CLD3	Domain
IPR041163	Ret_CLD1	Domain
IPR041317	RET_CLD4	Domain
IPR050122	RTK	Family
IPR055162	RET_CRD	Domain

PDB ID	Method	Resolution (Å)	Description
7DUA	X-ray	1.64	RET kinase domain with inhibitor
4CKJ	X-ray	1.65	RET kinase domain bound to adenosine
6NEC	X-ray	1.87	RET kinase domain with nintedanib
6I83	X-ray	1.88	RET V804M kinase domain with PDD00018366
7JU5	X-ray	1.90	RET kinase domain with pralsetinib
6NJA	X-ray	1.92	WT RET kinase domain
6NE7	X-ray	1.99	G810A mutant RET kinase domain
2IVS	X-ray	2.00	Non-phosphorylated RET kinase domain
2X2L	X-ray	2.00	Phosphorylated RET kinase domain with inhibitor
2X2U	X-ray	2.00	First two cadherin-like domains
6I82	X-ray	2.05	RET V804M kinase domain with PDD00018412
7JU6	X-ray	2.06	RET kinase domain with selpercatinib
4CKI	X-ray	2.12	Oncogenic RET M918T with adenosine
2IVV	X-ray	2.25	Phosphorylated RET with PP1 inhibitor
7DU9	X-ray	2.31	RET with pralsetinib
6VHG	X-ray	2.30	RET with pyrazolo[1,5-a]pyrimidine inhibitor
6FEK	X-ray	2.30	Oncogenic point mutation of RET
7NZN	X-ray	2.39	RET kinase domain with inhibitor JB-48
2IVU	X-ray	2.50	Phosphorylated RET with ZD6474 (vandetanib)
2X2M	X-ray	2.50	Phosphorylated RET with inhibitor
5AMN	X-ray	2.57	RET with phenol quinazoline inhibitor
2IVT	X-ray	2.60	Phosphorylated RET kinase domain
2X2K	X-ray	2.60	Phosphorylated RET with inhibitor
7DU8	X-ray	2.75	RET with selpercatinib
5FM3	X-ray	2.95	Hyper-phosphorylated RET with JM segment
5FM2	X-ray	3.30	Hyper-phosphorylated RET with JM segment
7RUN	X-ray	3.51	Phosphorylated RET with pyrrolo[2,3-d]pyrimidine
6Q2O	Cryo-EM	3.65	RET/GFRa2/NRTN extracellular complex
6Q2S	Cryo-EM	3.80	RET/GFRa3/ARTN extracellular complex
6Q2J	Cryo-EM	4.10	RET/GFRAL/GDF15 extracellular complex
6Q2R	Cryo-EM	4.30	RET/GFRa2/NRTN tetrameric complex
6Q2N	Cryo-EM	4.40	RET/GFRa1/GDNF extracellular complex
6GL7	Cryo-EM	6.30	Neurturin-GFRa2-RET complex
4UX8	Cryo-EM	24.00	GDNF-GFRalpha1-RET signaling complex

Species	Ensembl Gene ID	Symbol	Biotype
Human	ENSG00000165731	RET	protein_coding
Mouse (Mus musculus)	ENSMUSG00000030110	Ret	protein_coding
Rat (Rattus norvegicus)	ENSRNOG00000014751	Ret	protein_coding
Zebrafish (Danio rerio)	ENSDARG00000055305	ret	protein_coding
Fruit fly (D. melanogaster)	FBGN0011829	Ret	protein_coding
Worm (C. elegans)	No ortholog found	-	-
Yeast (S. cerevisiae)	No ortholog found	-	-

Gene Symbol	Ensembl ID	Description
EGFR	ENSG00000146648	Epidermal growth factor receptor
ERBB2	ENSG00000141736	HER2/neu receptor
ERBB3	ENSG00000065361	HER3 receptor
ERBB4	ENSG00000178568	HER4 receptor
FGFR1	ENSG00000077782	Fibroblast growth factor receptor 1
FGFR2	ENSG00000066468	Fibroblast growth factor receptor 2
FGFR3	ENSG00000068078	Fibroblast growth factor receptor 3
FGFR4	ENSG00000160867	Fibroblast growth factor receptor 4
KIT	ENSG00000157404	c-KIT receptor
MET	ENSG00000105976	Hepatocyte growth factor receptor
ALK	ENSG00000171094	Anaplastic lymphoma kinase
ROS1	ENSG00000047936	ROS proto-oncogene 1
NTRK1	ENSG00000198400	TrkA receptor
NTRK2	ENSG00000148053	TrkB receptor
NTRK3	ENSG00000140538	TrkC receptor
PDGFRA	ENSG00000134853	PDGF receptor alpha
PDGFRB	ENSG00000113721	PDGF receptor beta
KDR	ENSG00000128052	VEGFR2
FLT1	ENSG00000102755	VEGFR1
FLT3	ENSG00000122025	FLT3 receptor
FLT4	ENSG00000037280	VEGFR3

Classification	Count
Pathogenic	100+
Likely Pathogenic	50+
Uncertain Significance (VUS)	~3,500
Likely Benign	200+
Benign	100+
Conflicting	50+

ClinVar ID	HGVS Notation	Variant Type	Classification
13909	c.1901G>A (p.Cys634Tyr)	SNV	Pathogenic
13908	c.1900T>G (p.Cys634Gly)	SNV	Pathogenic
13910	c.1901G>C (p.Cys634Ser)	SNV	Pathogenic
13911	c.1901G>T (p.Cys634Phe)	SNV	Pathogenic
13918	c.1902C>G (p.Cys634Trp)	SNV	Pathogenic
38605	c.1900T>A (p.Cys634Ser)	SNV	Pathogenic
13905	c.1852T>G (p.Cys618Gly)	SNV	Pathogenic
13929	c.1852T>C (p.Cys618Arg)	SNV	Pathogenic
38601	c.1852T>A (p.Cys618Ser)	SNV	Pathogenic
13914	c.1853G>C (p.Cys618Ser)	SNV	Pathogenic
24901	c.1853G>A (p.Cys618Tyr)	SNV	Pathogenic
24902	c.1853G>T (p.Cys618Phe)	SNV	Pathogenic
13915	c.1858T>C (p.Cys620Arg)	SNV	Pathogenic
24905	c.1858T>G (p.Cys620Gly)	SNV	Pathogenic
13916	c.1859G>A (p.Cys620Tyr)	SNV	Pathogenic
13928	c.1859G>T (p.Cys620Phe)	SNV	Pathogenic
13943	c.1859G>C (p.Cys620Ser)	SNV	Pathogenic
13934	c.1860C>G (p.Cys620Trp)	SNV	Pathogenic
24897	c.1831T>G (p.Cys611Gly)	SNV	Pathogenic
24898	c.1832G>A (p.Cys611Tyr)	SNV	Pathogenic
24899	c.1832G>T (p.Cys611Phe)	SNV	Pathogenic
13913	c.1833C>G (p.Cys611Trp)	SNV	Pathogenic
13933	c.1826G>A (p.Cys609Tyr)	SNV	Pathogenic
38284	c.1826G>T (p.Cys609Phe)	SNV	Pathogenic
1372611	c.1826G>C (p.Cys609Ser)	SNV	Pathogenic
3254419	c.1825T>G (p.Cys609Gly)	SNV	Pathogenic
13944	c.1825T>C (p.Cys609Arg)	SNV	Pathogenic
24908	c.1888T>C (p.Cys630Arg)	SNV	Pathogenic
24909	c.1889G>A (p.Cys630Tyr)	SNV	Pathogenic
24914	c.1891G>T (p.Asp631Tyr)	SNV	Pathogenic
13946	c.2410G>T (p.Val804Leu)	SNV	Pathogenic
13931	c.2304G>C (p.Glu768Asp)	SNV	Pathogenic
38611	c.2304G>T (p.Glu768Asp)	SNV	Pathogenic
38612	c.2370G>T (p.Leu790Phe)	SNV	Pathogenic
13951	c.2671T>G (p.Ser891Ala)	SNV	Pathogenic
13950	c.1597G>T (p.Gly533Cys)	SNV	Pathogenic
13925	c.538C>T (p.Arg180Ter)	SNV	Pathogenic
1069637	c.318G>A (p.Trp106Ter)	SNV	Pathogenic
1405715	c.317G>A (p.Trp106Ter)	SNV	Pathogenic
599630	c.111G>A (p.Trp37Ter)	SNV	Pathogenic

Variant	Gene	Effect	Delta Score
10:43077329:AAGG:A	RET	donor_loss	1.0000
10:43077331:GGT:G	RET	donor_loss	1.0000
10:43077333:T:A	RET	donor_loss	0.9900
10:43077332:G:GG	RET	donor_gain	0.9900
10:43077330:AG:A	RET	donor_gain	0.9800
10:43077331:GG:G	RET	donor_gain	0.9800
10:43077329:AAG:A	RET	donor_gain	0.9200
10:43077327:CAAAG:C	RET	donor_gain	0.8100
10:43078508:G:T	RET	donor_gain	0.8200
10:43077328:AAAG:A	RET	donor_gain	0.7900
10:43077706:G:GT	RET	donor_gain	0.7700
10:43077510:G:GT	RET	donor_gain	0.7500
10:43078021:G:GT	RET	donor_gain	0.7400
10:43077735:A:T	RET	donor_gain	0.7100
10:43078404:C:CG	RET	donor_gain	0.6700
10:43077102:C:G	RET	donor_gain	0.6500
10:43077332:G:T	RET	donor_gain	0.6200
10:43077334:GAG:G	RET	donor_loss	0.6200
10:43080034:G:GT	RET	donor_gain	0.6100
10:43077753:G:GT	RET	donor_gain	0.5900

Variant	Protein Change	AM Score	Classification
10:43077263:C:T	A2V	0.789	likely_pathogenic
10:43077272:C:T	T5M	0.591	likely_pathogenic
Many kinase domain variants	Various	>0.5	likely_pathogenic

Pathway ID	Pathway Name	Disease Pathway
R-HSA-8853659	RET signaling	No
R-HSA-5673001	RAF/MAP kinase cascade	No
R-HSA-9768919	NPAS4 regulates expression of target genes	No
R-HSA-9830364	Formation of the nephric duct	No
R-HSA-9830674	Formation of the ureteric bud	No

GO ID	Term Name
GO:0004714	transmembrane receptor protein tyrosine kinase activity
GO:0004713	protein tyrosine kinase activity
GO:0004672	protein kinase activity
GO:0016301	kinase activity
GO:0016740	transferase activity
GO:0038023	signaling receptor activity
GO:0005524	ATP binding
GO:0000166	nucleotide binding
GO:0005509	calcium ion binding
GO:0005515	protein binding

GO ID	Term Name
GO:0035860	glial cell-derived neurotrophic factor receptor signaling pathway
GO:0160144	GDF15-GFRAL signaling pathway
GO:0007169	cell surface receptor protein tyrosine kinase signaling pathway
GO:0000165	MAPK cascade
GO:0043410	positive regulation of MAPK cascade
GO:0051897	positive regulation of PI3K/PKB signaling
GO:0006468	protein phosphorylation
GO:0007165	signal transduction
GO:0048484	enteric nervous system development
GO:0007399	nervous system development
GO:0030182	neuron differentiation
GO:0042551	neuron maturation
GO:0007411	axon guidance
GO:0010976	positive regulation of neuron projection development
GO:0050770	regulation of axonogenesis
GO:0001755	neural crest cell migration
GO:0001657	ureteric bud development
GO:0035799	ureter maturation
GO:0072300	positive regulation of metanephric glomerulus development
GO:0001838	embryonic epithelial tube formation
GO:0007155	cell adhesion
GO:0007156	homophilic cell-cell adhesion
GO:0007158	neuron cell-cell adhesion
GO:0030155	regulation of cell adhesion
GO:0033630	positive regulation of cell adhesion mediated by integrin
GO:0030335	positive regulation of cell migration
GO:0010628	positive regulation of gene expression
GO:0045893	positive regulation of DNA-templated transcription
GO:0033619	membrane protein proteolysis
GO:0045793	positive regulation of cell size
GO:0048265	response to pain
GO:0071300	cellular response to retinoic acid
GO:0061146	Peyer's patch morphogenesis
GO:0097021	lymphocyte migration into lymphoid organs
GO:2001241	positive regulation of extrinsic apoptotic signaling

GO ID	Term Name
GO:0005886	plasma membrane
GO:0016020	membrane
GO:0098797	plasma membrane protein complex
GO:0043235	receptor complex
GO:0005768	endosome
GO:0010008	endosome membrane
GO:0030424	axon

UniProt ID	Gene	Combined Score	Description
P39905	GFRA1	999	GDNF family receptor alpha-1
P56159	GFRA2	999	GDNF family receptor alpha-2
Q99748	NRTN	997	Neurturin
Q5T4W7	GFRA3	996	GDNF family receptor alpha-3
O00451	GFRA4	994	GDNF family receptor alpha-4
O60542	PSPN	994	Persephin
O60609	ARTN	994	Artemin
Q6UXV0	GDF15	988	Growth differentiation factor 15
Q13772	NCOA4	942	Nuclear receptor coactivator 4
Q13635	PTPN6	915	Tyrosine-protein phosphatase SHP-1
P25325	MPST	906	3-mercaptopyruvate sulfurtransferase
O14521	SDHD	904	Succinate dehydrogenase
O75204	LMO3	903	LIM domain only protein 3
P29353	SHC1	892	SHC-transforming protein 1
P21912	SDHB	884	Succinate dehydrogenase
Q9GZZ7	NXPH1	855	Neurexophilin-1
P24530	EDNRB	847	Endothelin receptor type B
P21359	NF1	839	Neurofibromin
P06753	TPM3	831	Tropomyosin alpha-3
O00255	MEN1	828	Menin
Q99643	SDHC	827	Succinate dehydrogenase cytochrome b560
P33176	KIF5B	822	Kinesin heavy chain
Q9HC35	GDNF	822	Glial cell line-derived neurotrophic factor
Q9UPN9	TRIM33	819	E3 ubiquitin-protein ligase
P13591	NCAM1	813	Neural cell adhesion molecule 1
P01116	KRAS	804	GTPase KRas
Q9ULQ1	CCDC6	802	Coiled-coil domain-containing protein 6
P04637	TP53	800	Cellular tumor antigen p53
P14138	EDNRA	800	Endothelin receptor type A
P56693	GNAZ	793	Guanine nucleotide-binding protein G(z)
P01138	NGF	792	Nerve growth factor
O95436	RAPGEF2	790	Rap guanine nucleotide exchange factor 2
P08922	ROS1	784	Proto-oncogene tyrosine-protein kinase ROS
P42336	PIK3CA	781	PI3-kinase p110 catalytic subunit alpha
Q99453	PHOX2B	778	Paired mesoderm homeobox protein 2B
P01111	NRAS	777	GTPase NRas
Q9Y6C5	SEC61B	767	Protein transport protein Sec61
P10644	PRKAR1A	758	cAMP-dependent protein kinase regulatory
Q8WU20	KCTD1	751	BTB/POZ domain-containing protein
P23560	BDNF	741	Brain-derived neurotrophic factor
Q06124	PTPN11	739	Tyrosine-protein phosphatase SHP-2
P01112	HRAS	732	GTPase HRas
P14373	ZNF268	729	RING finger protein 2
Q06710	PAX3	728	Paired box protein Pax-3
Q03052	PODXL	725	Podocalyxin

Regulator	Effect	Mechanism
GDNF	up-regulates	binding
NRTN	up-regulates	binding
PTK2 (FAK)	up-regulates	phosphorylation
PTPRJ	down-regulates	dephosphorylation
PTPRF	down-regulates	dephosphorylation
PRKACA	down-regulates	phosphorylation
CBLC	down-regulates	ubiquitination

Target	Effect	Mechanism
MAPK1 (ERK2)	up-regulates	phosphorylation
MAPK3 (ERK1)	up-regulates	phosphorylation
MAPK14 (p38)	up-regulates	phosphorylation
AKT1	up-regulates	phosphorylation
PDPK1	up-regulates	phosphorylation
STAT1	up-regulates	phosphorylation
PTK2 (FAK)	up-regulates	phosphorylation
FRS2	up-regulates	binding
SHC1	up-regulates	binding
DOK1/4/5/6	up-regulates	binding
GRB7/10	up-regulates	binding
GFRA1	up-regulates	binding

UniProt ID	Gene	Top Similarity	Avg Similarity
Q05030	PDGFRB	0.9999	0.9943
P09581	CSF1R	1.0000	0.9939
Q00495	KIT	0.9996	0.9939
P07333	CSF1R	0.9995	0.9911
P00545	FGR	0.9993	0.9908
Q91ZT1	FLT3	0.9998	0.9905
P35917	VEGFR3	0.9998	0.9904
Q00342	SRC	0.9992	0.9906

UniProt ID	Gene	Identity (%)	Bitscore
P08922	ROS1	79.5	3798
P24062	KIT	99.5	2784
P08069	IGF1R	97.7	2685
P35917	VEGFR3	95.9	2650
P35918	VEGFR2	95.2	2582
O08775	RET (mouse)	95.2	2575
P35969	VEGFR1	92.6	2469
P00533	EGFR	99.3	2440
P14617	FGFR4	89.8	2397
P35916	FGFR2	86.8	2385
P04626	ERBB2	91.8	2382

TF Gene	Regulation	Confidence
SOX10	Activation	High
PHOX2B	Activation	High
PHOX2A	Activation	Medium
ASCL1	Activation	Medium
CTNNB1 (β-catenin)	Activation	High
TLX2	Activation	Low
NKX2-1	Repression	High
AR	Unknown	High
ESR1	Unknown	High
EGR1	Unknown	High
SP3	Unknown	High
TFAP2C	Unknown	High
TFCP2	Unknown	High
NR4A2	Unknown	High
HOXB5	Unknown	High
PAX3	Unknown	High
RUNX1	Unknown	High
TTF1	Unknown	High
FOXA1	Unknown	Medium
EGR2	Unknown	Low
PAX2	Unknown	Low
PAX8	Unknown	Low
PREB	Unknown	Low
RARG	Unknown	Low
SP1	Unknown	Low
TFAP2A	Unknown	Low
FOXC1	Unknown	Low

ChEMBL ID	Target Name	Type
CHEMBL2041	Proto-oncogene tyrosine-protein kinase receptor Ret	SINGLE PROTEIN
CHEMBL3430877	RET/NCOA4 fusion protein	CHIMERIC PROTEIN
CHEMBL3430888	KIF5B/RET fusion protein	CHIMERIC PROTEIN
CHEMBL3430904	CCDC6/RET fusion protein	CHIMERIC PROTEIN
CHEMBL4523602	CEP43/RET fusion protein	CHIMERIC PROTEIN

ChEMBL ID	Drug Name	Type	Phase
CHEMBL4559134	SELPERCATINIB	Small molecule	4
CHEMBL4582651	PRALSETINIB	Small molecule	4
CHEMBL24828	VANDETANIB	Small molecule	4
CHEMBL2105717	CABOZANTINIB	Small molecule	4
CHEMBL1336	SORAFENIB	Small molecule	4
CHEMBL1946170	REGORAFENIB	Small molecule	4
CHEMBL1289601	LENVATINIB	Small molecule	4
CHEMBL1171837	PONATINIB	Small molecule	4
CHEMBL535	SUNITINIB	Small molecule	4
CHEMBL477772	PAZOPANIB	Small molecule	4
CHEMBL1289926	AXITINIB	Small molecule	4
CHEMBL1289494	TIVOZANIB	Small molecule	4
CHEMBL502835	NINTEDANIB	Small molecule	4
CHEMBL601719	CRIZOTINIB	Small molecule	4
CHEMBL1983268	ENTRECTINIB	Small molecule	4
CHEMBL2403108	CERITINIB	Small molecule	4
CHEMBL1738797	ALECTINIB	Small molecule	4
CHEMBL3545311	BRIGATINIB	Small molecule	4
CHEMBL3301622	GILTERITINIB	Small molecule	4
CHEMBL576982	QUIZARTINIB	Small molecule	4
CHEMBL608533	MIDOSTAURIN	Small molecule	4
CHEMBL1421	DASATINIB	Small molecule	4
CHEMBL288441	BOSUTINIB	Small molecule	4
CHEMBL255863	NILOTINIB	Small molecule	4
CHEMBL1173655	AFATINIB	Small molecule	4
CHEMBL553	ERLOTINIB	Small molecule	4
CHEMBL939	GEFITINIB	Small molecule	4
CHEMBL554	LAPATINIB	Small molecule	4
CHEMBL1873475	IBRUTINIB	Small molecule	4
CHEMBL221959	TOFACITINIB	Small molecule	4
CHEMBL1789941	RUXOLITINIB	Small molecule	4
CHEMBL1287853	FEDRATINIB	Small molecule	4
CHEMBL2105759	BARICITINIB	Small molecule	4
CHEMBL3622821	UPADACITINIB	Small molecule	4
CHEMBL1852688	INFIGRATINIB	Small molecule	4
CHEMBL1229517	VEMURAFENIB	Small molecule	4
CHEMBL2325741	CAPIVASERTIB	Small molecule	4
CHEMBL189963	PALBOCICLIB	Small molecule	4

ChEMBL ID	Drug Name	Type	Phase
CHEMBL50	QUERCETIN	Small molecule	3
CHEMBL101253	VATALANIB	Small molecule	3
CHEMBL491473	CEDIRANIB	Small molecule	3
CHEMBL522892	DOVITINIB	Small molecule	3
CHEMBL572881	MOTESANIB	Small molecule	3
CHEMBL223360	LINIFANIB	Small molecule	3
CHEMBL2105728	CRENOLANIB	Small molecule	3
CHEMBL3186534	RIVOCERANIB	Small molecule	3
CHEMBL483158	ALISERTIB	Small molecule	3

Drug	Effect on RET	Mechanism
Vandetanib	down-regulates	chemical inhibition
Cabozantinib	down-regulates	chemical inhibition
Sorafenib	down-regulates	chemical inhibition
Regorafenib	down-regulates	chemical inhibition
Ponatinib	down-regulates	chemical inhibition
Lapatinib	down-regulates	chemical inhibition
Motesanib	down-regulates	chemical inhibition

Attribute	Value
Gene ID	ENSG00000165731
Expression Breadth	Ubiquitous
Total Present Calls	193
Total Absent Calls	88
Max Expression Score	91.87
Average Expression Score	60.11

Tissue	Expression Score	Quality
Substantia nigra pars reticulata	91.87	Gold
Dorsal root ganglion	91.53	Gold
Substantia nigra pars compacta	90.73	Gold
Trigeminal ganglion	82.58	Gold
Primordial germ cell in gonad	81.60	Gold
Male germ line stem cell in testis	81.03	Gold
Substantia nigra	80.27	Gold
Midbrain	79.30	Gold
Pons	77.27	Gold
Tibialis anterior	76.98	Silver
Endometrium epithelium	76.11	Gold
Lateral nuclear group of thalamus	74.36	Gold
Hindlimb stylopod muscle	73.64	Gold
Primary visual cortex	72.97	Gold
Superior vestibular nucleus	72.79	Gold
Parotid gland	72.60	Silver
Cerebellar vermis	72.38	Silver
Prefrontal cortex	71.62	Gold
Hypothalamus	70.96	Gold
Right adrenal gland	70.50	Gold
Biceps brachii	69.95	Silver
Stromal cell of endometrium	69.84	Gold
Adrenal gland	69.72	Gold
Left adrenal gland	69.50	Gold
Right adrenal gland cortex	69.37	Gold
Muscle layer of sigmoid colon	69.25	Gold

Disease	Classification	Inheritance	Submitter
Multiple endocrine neoplasia type 2A	Definitive	AD	G2P
Multiple endocrine neoplasia type 2B	Definitive	AD	G2P
Familial medullary thyroid carcinoma	Definitive	AD	G2P
Pheochromocytoma	Definitive	AD	G2P
Hirschsprung disease, susceptibility	Strong	AD	Labcorp
Hirschsprung disease	Supportive	AD	Orphanet
Renal agenesis	Limited	AR	G2P
Renal agenesis, bilateral	Supportive	AR	Orphanet
Renal agenesis, unilateral	Supportive	AD	Orphanet
Haddad syndrome	Supportive	AD	Orphanet

Orphanet ID	Disease Name	Type	Gene Count
247698	Multiple endocrine neoplasia type 2A	Clinical subtype	1
247709	Multiple endocrine neoplasia type 2B	Clinical subtype	1
99361	Isolated familial medullary thyroid carcinoma	Disease	3
388	Hirschsprung disease	Disease	14
99803	Haddad syndrome	Malformation syndrome	3
29072	Hereditary pheochromocytoma-paraganglioma	Disease	15
276621	Sporadic pheochromocytoma/paraganglioma	Disease	6
146	Differentiated thyroid carcinoma	Disease	29
1848	Bilateral renal agenesis	Clinical subtype	6
93100	Unilateral renal agenesis	Clinical subtype	8

HPO ID	Phenotype
HP:0002865	Medullary thyroid carcinoma
HP:0002666	Pheochromocytoma
HP:0002668	Paraganglioma
HP:0002251	Aganglionic megacolon (Hirschsprung)
HP:0000104	Renal agenesis
HP:0000843	Hyperparathyroidism
HP:0002897	Parathyroid adenoma
HP:0000822	Hypertension
HP:0000875	Episodic hypertension
HP:0002640	Hypertension with pheochromocytoma
HP:0001649	Tachycardia
HP:0001962	Palpitations
HP:0000975	Hyperhidrosis
HP:0001069	Episodic hyperhidrosis
HP:0000740	Episodic paroxysmal anxiety
HP:0002315	Headache
HP:0002331	Recurrent paroxysmal headache
HP:0003072	Hypercalcemia
HP:0003528	Elevated calcitonin
HP:0003345	Elevated urinary norepinephrine
HP:0003639	Elevated urinary epinephrine
HP:0003118	Increased circulating cortisol
HP:0001958	Nonketotic hypoglycemia
HP:0003006	Neuroblastoma
HP:0003005	Ganglioneuroma
HP:0002019	Constipation
HP:0005214	Intestinal obstruction
HP:0004387	Enterocolitis
HP:0002574	Episodic abdominal pain
HP:0003270	Abdominal distention
HP:0002014	Diarrhea
HP:0002013	Vomiting
HP:0004362	Abnormal enteric ganglion morphology
HP:0001508	Failure to thrive
HP:0001510	Growth delay
HP:0001519	Disproportionate tall stature
HP:0004322	Short stature
HP:0001263	Global developmental delay
HP:0001252	Hypotonia
HP:0001605	Vocal cord paralysis
HP:0002650	Scoliosis
HP:0001761	Pes cavus
HP:0000179	Thick lower lip vermilion
HP:0000316	Hypertelorism
HP:0000218	High palate
HP:0002575	Tracheoesophageal fistula
HP:0001028	Hemangioma
HP:0000957	Café-au-lait spot
HP:0000006	Autosomal dominant inheritance
HP:0003581	Adult onset

Study ID	Trait	P-value
GCST005289_4	Hirschsprung disease	2.0e-101
GCST003764_3	Hirschsprung disease	4.0e-43
GCST003764_1	Hirschsprung disease	1.0e-28
GCST006271_1	Hirschsprung disease	3.0e-21
GCST002658_5	Hirschsprung disease	6.0e-19
GCST000334_2	Hirschsprung disease	4.0e-18
GCST005289_5	Hirschsprung disease	3.0e-15
GCST003764_7	Hirschsprung disease	4.0e-14
GCST005289_3	Hirschsprung disease	5.0e-10
GCST006585_579	Blood protein levels	4.0e-56
GCST009405_2	Smoking (cigarettes/day)	4.0e-08
GCST009407_2	Smoking (cigarettes/day)	3.0e-07
GCST005289_7	Hirschsprung disease	6.0e-07
GCST003465_23	Cannabis dependence	1.0e-06