Basal cell carcinoma, susceptibility to, 4

Summary

Basal cell carcinoma, susceptibility to, 4 (MONDO:0013104) is a cancer with 1 cohort gene.

At a glance

• Classification: Cancer
• Cohort genes: 1
• ClinVar variants: 1

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	basal cell carcinoma, susceptibility to, 4
Mondo ID	MONDO:0013104
OMIM	613061
UMLS	C2751602
MedGen	414061
Is cancer (heuristic)	yes

Also known as: basal cell carcinoma, susceptibility to, 4 · BCC4

Data availability: 1 ClinVar variant.

Disease family

Classification path: disease susceptibility › inherited disease susceptibility › basal cell carcinoma, susceptibility to › basal cell carcinoma, susceptibility to, 4

Related subtypes (6): basal cell carcinoma, susceptibility to, 1, basal cell carcinoma, susceptibility to, 2, basal cell carcinoma, susceptibility to, 3, basal cell carcinoma, susceptibility to, 5, basal cell carcinoma, susceptibility to, 6, basal cell carcinoma, susceptibility to, 7

Genetics & variants

GWAS landscape

No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.

Variant details and genetic-evidence tiers

ClinVar germline variants

1 retrieved; paginated sample, class counts are floors:

1 uncertain significance

ClinVar	Variant (HGVS)	Gene	Classification	Review
4278981	NM_018055.5(NODAL):c.1024_1027del (p.Glu342fs)	NODAL	Uncertain significance	criteria provided, single submitter

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 0 · Orphanet: 8 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
NODAL	Orphanet:101063	Situs inversus totalis
NODAL	Orphanet:157769	Situs ambiguus
NODAL	Orphanet:220386	Semilobar holoprosencephaly
NODAL	Orphanet:280195	Septopreoptic holoprosencephaly
NODAL	Orphanet:280200	Microform holoprosencephaly
NODAL	Orphanet:93924	Lobar holoprosencephaly
NODAL	Orphanet:93925	Alobar holoprosencephaly
NODAL	Orphanet:93926	Midline interhemispheric variant of holoprosencephaly

Cohort genes → proteins

1 cohort genes, 1 distinct canonical proteins.

Evidence partition

Subset	Genes
multi_evidence	1

Cohort genes (full)

Symbol	HGNC	Ensembl	UniProt	Name	Evidence
NODAL	HGNC:7865	ENSG00000156574	Q96S42	Nodal homolog	clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
NODAL	Nodal homolog	Essential for mesoderm formation and axial patterning during embryonic development.

Protein-family classification

Druggable: 0 · Difficult: 0 · Unknown: 1 · Druggable fraction: 0.0

Family distribution

Cohort families vs a genome-wide background (hypergeometric, BH-FDR; fold = observed/expected). Counts kept; sorted by enrichment, so the catch-all Other/Unknown bucket no longer leads.

Family	Genes	Fold	FDR
Other/Unknown	1	1.8×	0.558

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
NODAL	Other/Unknown	no		TGF-b_C, TGF-beta-like, TGFb_CS

Expression context

Cohort genes with no expression data: 0.

1 cohort gene are a single-cell marker in ≥1 SCXA experiment.

Breadth distribution (Bgee present_calls)

Bucket	Genes
narrow (1-5 tissues)	0
moderate (6-20)	0
broad (>20)	1
unknown	0

Top tissues across cohort

Tissue	Cohort genes
cardiac muscle of right atrium	1
left ventricle myocardium	1
upper arm skin	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
NODAL	138	tissue_specific	marker	upper arm skin, cardiac muscle of right atrium, left ventricle myocardium

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
NODAL	1,093

Structural data

PDB: 1 · AlphaFold-only: 0 · No structure: 0

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
NODAL	Q96S42	1

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 2. Enrichment computed across 1 evidence-associated genes (1 with Reactome annotation).

Pathways by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 1 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

Pathway	Cohort genes	Fold	FDR	Sample cohort genes
Regulation of signaling by NODAL	1	951.7×	0.002	NODAL
Signaling by NODAL	1	496.5×	0.002	NODAL

GO biological processes by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 1 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

GO term	Cohort genes	Fold	FDR	Sample cohort genes
polarity specification of proximal/distal axis	1	16852.0×	7e-04	NODAL
floor plate morphogenesis	1	16852.0×	7e-04	NODAL
axial mesodermal cell fate specification	1	16852.0×	7e-04	NODAL
epiblast cell-extraembryonic ectoderm cell signaling	1	16852.0×	7e-04	NODAL
trophectodermal cellular morphogenesis	1	8426.0×	7e-04	NODAL
negative regulation of cell development	1	8426.0×	7e-04	NODAL
left lung morphogenesis	1	8426.0×	7e-04	NODAL
negative regulation of chorionic trophoblast cell proliferation	1	8426.0×	7e-04	NODAL
neural fold formation	1	4213.0×	0.001	NODAL
inhibition of neuroepithelial cell differentiation	1	4213.0×	0.001	NODAL
formation of anatomical boundary	1	4213.0×	0.001	NODAL
maternal process involved in parturition	1	3370.4×	0.001	NODAL
regulation of gastrulation	1	2808.7×	0.001	NODAL
negative regulation of trophoblast cell migration	1	2407.4×	0.001	NODAL
embryonic process involved in female pregnancy	1	2106.5×	0.001	NODAL
determination of left/right asymmetry in lateral mesoderm	1	1872.4×	0.001	NODAL
mesendoderm development	1	1872.4×	0.001	NODAL
maternal placenta development	1	1532.0×	0.002	NODAL
cell migration involved in gastrulation	1	1532.0×	0.002	NODAL
primitive streak formation	1	1404.3×	0.002	NODAL
regulation of stem cell population maintenance	1	1404.3×	0.002	NODAL
vasculature development	1	1123.5×	0.002	NODAL
nodal signaling pathway	1	1123.5×	0.002	NODAL
digestive tract morphogenesis	1	991.3×	0.002	NODAL
negative regulation of androgen receptor signaling pathway	1	936.2×	0.002	NODAL
embryonic placenta development	1	766.0×	0.002	NODAL
positive regulation of cell-cell adhesion	1	766.0×	0.002	NODAL
cell surface receptor protein serine/threonine kinase signaling pathway	1	732.7×	0.002	NODAL
embryonic cranial skeleton morphogenesis	1	581.1×	0.003	NODAL
embryonic pattern specification	1	543.6×	0.003	NODAL

Therapeutics

Drug target analysis

Approved (phase 4): 0 · Phase ≥3: 0 · Phased (≥1): 0 · Undrugged: 1

Druggability breadth: 0 of 1 evidence-associated genes (0%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).

Top cohort targets by molecule count

Symbol	Molecules	Max phase
NODAL	0	0

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 0.

Pharmacogenomics

Cohort genes with a PharmGKB record: 1; with CPIC/DPWG dosing guidelines: 0.

No cohort gene has a CPIC/DPWG genotype-guided dosing guideline (PharmGKB).

Drug repurposing candidates

0 approved/phased drugs hit cohort targets but don’t yet appear in disease-level clinical trials. Target-inhibition rationale is strongest for cancer driver genes; a bioactivity hit is a screening signal, not a treatment claim.

Druggability pyramid

Cohort genes binned by druggability tier (high → low):

Tier	Definition	Genes	Symbols
A	Approved (phase 4 drug)	0
B	Phased (≥1) drug, not yet approved	0
C	Druggable family + PDB, no drug	0
D	Druggable family + AlphaFold only, no drug	0
E	Difficult family or no structure, no drug	1	NODAL

Undrugged target profiles

1 cohort genes are undrugged. Ranked by ‘starting-point quality’ (assay depth + drugged-partner adjacency).

Symbol	ChEMBL assays	Drugged partners (top 3)
NODAL	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 0.