Pulmonary hypertension, primary, 7

Summary

Pulmonary hypertension, primary, 7 (MONDO:0979237) is a disease with 1 cohort gene.

At a glance

• Cohort genes: 1
• ClinVar variants: 6

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	pulmonary hypertension, primary, 7
Mondo ID	MONDO:0979237
OMIM	621248
UMLS	C6012740
MedGen	1876459
GARD	0028111
Is cancer (heuristic)	no

Data availability: 6 ClinVar variants.

Disease family

Classification path: disease › human disease › disease by etiologic mechanism › disease of genetic or genomic mechanism › hereditary disease › heritable pulmonary arterial hypertension › pulmonary hypertension, primary, 7

Related subtypes (6): pulmonary hypertension, primary, 5, pulmonary hypertension, primary, 2, pulmonary hypertension, primary, 3, pulmonary hypertension, primary, 4, pulmonary hypertension, primary, 1, pulmonary hypertension, primary, 6

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

6 retrieved; paginated sample, class counts are floors:

3 pathogenic, 2 uncertain significance, 1 likely pathogenic

ClinVar	Variant (HGVS)	Gene	Classification	Review
3906893	SOX17, TYR137TER	SOX17	Pathogenic	no assertion criteria provided
3906894	Q127*	SOX17	Pathogenic	no assertion criteria provided
3906895	SOX17, 22-BP DEL, NT499	SOX17	Pathogenic	no assertion criteria provided
4530598	NM_022454.4(SOX17):c.413G>C (p.Arg138Pro)	SOX17	Likely pathogenic	criteria provided, single submitter
4277477	NM_022454.4(SOX17):c.292T>G (p.Leu98Val)	SOX17	Uncertain significance	criteria provided, single submitter
4741785	NM_022454.4(SOX17):c.274G>A (p.Asp92Asn)	SOX17	Uncertain significance	criteria provided, multiple submitters, no conflicts

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 0 · Orphanet: 2 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
SOX17	Orphanet:275777	Heritable pulmonary arterial hypertension
SOX17	Orphanet:289365	Familial vesicoureteral reflux

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
SOX17	HGNC:18122	ENSG00000164736	Q9H6I2	Transcription factor SOX-17	clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
SOX17	Transcription factor SOX-17	Acts as a transcription regulator that binds target promoter DNA.

Protein-family classification

Druggable: 0 · Difficult: 1 · Unknown: 0 · 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
Transcription factor	1	8.3×	0.121

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
SOX17	Transcription factor	no		HMG_box_dom, Sox_C, Sox7/17/18_central

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
endothelial cell	1
omental fat pad	1
peritoneum	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
SOX17	190	broad	marker	endothelial cell, omental fat pad, peritoneum

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
SOX17	2,772

Structural data

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

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
SOX17	Q9H6I2	2

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 12. 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
Specification of primordial germ cells	1	878.5×	0.007	SOX17
Formation of definitive endoderm	1	713.8×	0.007	SOX17
Developmental Lineage of Multipotent Pancreatic Progenitor Cells	1	601.0×	0.007	SOX17
Developmental Lineage of Pancreatic Acinar Cells	1	300.5×	0.008	SOX17
Gastrulation	1	259.6×	0.008	SOX17
Deactivation of the beta-catenin transactivating complex	1	233.1×	0.008	SOX17
Developmental Cell Lineages	1	223.9×	0.008	SOX17
Reproduction	1	190.3×	0.008	SOX17
TCF dependent signaling in response to WNT	1	117.7×	0.011	SOX17
Signaling by WNT	1	112.0×	0.011	SOX17
Developmental Biology	1	14.5×	0.075	SOX17
Signal Transduction	1	10.2×	0.098	SOX17

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
cardiogenic plate morphogenesis	1	16852.0×	9e-04	SOX17
regulation of cardiac cell fate specification	1	16852.0×	9e-04	SOX17
endodermal cell fate determination	1	8426.0×	9e-04	SOX17
gallbladder development	1	8426.0×	9e-04	SOX17
inner cell mass cellular morphogenesis	1	5617.3×	9e-04	SOX17
rostrocaudal neural tube patterning	1	5617.3×	9e-04	SOX17
common bile duct development	1	5617.3×	9e-04	SOX17
endodermal digestive tract morphogenesis	1	5617.3×	9e-04	SOX17
positive regulation of endodermal cell differentiation	1	5617.3×	9e-04	SOX17
stem cell fate specification	1	4213.0×	9e-04	SOX17
endocardium formation	1	4213.0×	9e-04	SOX17
cardiac cell fate determination	1	4213.0×	9e-04	SOX17
heart formation	1	3370.4×	0.001	SOX17
endodermal cell fate specification	1	2808.7×	0.001	SOX17
endocardial cell differentiation	1	2808.7×	0.001	SOX17
ureter development	1	2808.7×	0.001	SOX17
embryonic heart tube morphogenesis	1	1872.4×	0.001	SOX17
embryonic foregut morphogenesis	1	1685.2×	0.001	SOX17
cell migration involved in gastrulation	1	1532.0×	0.001	SOX17
response to alkaloid	1	1532.0×	0.001	SOX17
endoderm formation	1	1404.3×	0.001	SOX17
regulation of stem cell proliferation	1	1404.3×	0.001	SOX17
regulation of stem cell division	1	1404.3×	0.001	SOX17
positive regulation of stem cell differentiation	1	1296.3×	0.002	SOX17
embryonic heart tube development	1	766.0×	0.002	SOX17
signal transduction involved in regulation of gene expression	1	702.2×	0.003	SOX17
metanephros development	1	510.7×	0.003	SOX17
regulation of embryonic development	1	330.4×	0.005	SOX17
outflow tract morphogenesis	1	306.4×	0.005	SOX17
protein destabilization	1	290.6×	0.005	SOX17

Therapeutics

Drug target analysis

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

Druggability breadth: 1 of 1 evidence-associated genes (100%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).

Top cohort targets by molecule count

Symbol	Molecules	Max phase
SOX17	0	0

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 0.

Cohort genes with ChEMBL bioactivity (full, sorted by assay count)

Symbol	Assays	Type breakdown
SOX17	1	Binding:1

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	0
D	Druggable family + AlphaFold only, no drug	0
E	Difficult family or no structure, no drug	1	SOX17

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)
SOX17	1	—

Clinical trials & evidence

Clinical trials

Clinical trials: 0.