Cholestasis, progressive familial intrahepatic, 11

disease

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Also known as PFIC11

Summary

Cholestasis, progressive familial intrahepatic, 11 (MONDO:0030815) is a disease with 1 cohort gene.

At a glance

Cohort genes: 1
ClinVar variants: 1

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	cholestasis, progressive familial intrahepatic, 11
Mondo ID	MONDO:0030815
OMIM	619874
UMLS	C5676985
MedGen	1807308
GARD	0025642
Is cancer (heuristic)	no

Also known as: cholestasis, progressive familial intrahepatic, 11 · PFIC11

Data availability: 1 ClinVar variant · 1 GenCC gene-disease record.

Disease family

Classification path: disease › human disease › disease by body system or component › syndromic disease › progressive familial intrahepatic cholestasis › cholestasis, progressive familial intrahepatic, 11

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 pathogenic

ClinVar	Variant (HGVS)	Gene	Classification	Review
1687038	NM_003612.5(SEMA7A):c.442C>T (p.Arg148Trp)	SEMA7A	Pathogenic	no assertion criteria provided

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 1 · Orphanet: 0 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0

GenCC gene–disease validity (cohort genes)

the Disease column is the GenCC-asserted condition — a cohort gene’s strongest validity may be for a related predisposition syndrome.

Gene	Classification	Inheritance	Disease	Records
SEMA7A	Moderate	Autosomal recessive	cholestasis, progressive familial intrahepatic, 11

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
SEMA7A	HGNC:10741	ENSG00000138623	O75326	Semaphorin-7A	gencc,clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
SEMA7A	Semaphorin-7A	Plays an important role in integrin-mediated signaling and functions both in regulating cell migration and immune responses.

Protein-family classification

Druggable: 1 · Difficult: 0 · Unknown: 0 · Druggable fraction: 1.0

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
Antibody/Immunoglobulin	1	29.2×	0.034

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
SEMA7A	Antibody/Immunoglobulin	yes		Semap_dom, Plexin_repeat, Ig-like_dom

Expression context

Cohort genes with no expression data: 0.

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
C1 segment of cervical spinal cord	1
primary visual cortex	1
spleen	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
SEMA7A	136	ubiquitous	yes	spleen, C1 segment of cervical spinal cord, primary visual cortex

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
SEMA7A	1,144

Structural data

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

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
SEMA7A	O75326	1

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 5. 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
Other semaphorin interactions	1	601.0×	0.006	SEMA7A
Semaphorin interactions	1	393.8×	0.006	SEMA7A
Axon guidance	1	45.1×	0.029	SEMA7A
Nervous system development	1	42.9×	0.029	SEMA7A
Developmental Biology	1	14.5×	0.069	SEMA7A

GO biological processes by enrichment

GO term	Cohort genes	Fold	FDR	Sample cohort genes
olfactory lobe development	1	16852.0×	9e-04	SEMA7A
regulation of synapse maturation	1	936.2×	0.005	SEMA7A
positive regulation of macrophage cytokine production	1	732.7×	0.005	SEMA7A
negative chemotaxis	1	648.1×	0.005	SEMA7A
positive regulation of axon extension	1	510.7×	0.005	SEMA7A
axon extension	1	495.6×	0.005	SEMA7A
semaphorin-plexin signaling pathway	1	401.2×	0.006	SEMA7A
neural crest cell migration	1	337.0×	0.006	SEMA7A
regulation of inflammatory response	1	168.5×	0.010	SEMA7A
integrin-mediated signaling pathway	1	160.5×	0.010	SEMA7A
osteoblast differentiation	1	121.2×	0.012	SEMA7A
axon guidance	1	90.6×	0.014	SEMA7A
positive regulation of ERK1 and ERK2 cascade	1	85.1×	0.014	SEMA7A
positive regulation of cell migration	1	61.7×	0.019	SEMA7A
immune response	1	47.1×	0.023	SEMA7A
inflammatory response	1	37.7×	0.027	SEMA7A

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
SEMA7A	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).

Chemical tractability of cohort targets

0 approved/phased compounds have measured bioactivity against a cohort gene (and aren’t yet in disease-level trials). This is a research / tractability signal, NOT a therapeutic recommendation — a bioactivity row often reflects off-target or screening binding (e.g. promiscuous kinase inhibitors against a cohort kinase), implying no disease mechanism.

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	1	SEMA7A
D	Druggable family + AlphaFold only, no drug	0
E	Difficult family or no structure, no drug	0

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)
SEMA7A	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 0.

Cohort genes: SEMA7A