Scoliosis, isolated, susceptibility to, 3

Summary

Scoliosis, isolated, susceptibility to, 3 (MONDO:0012115) is a disease with 1 cohort gene.

At a glance

• Cohort genes: 1
• ClinVar variants: 2

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	scoliosis, isolated, susceptibility to, 3
Mondo ID	MONDO:0012115
OMIM	608765
UMLS	C1837461
MedGen	373333
Is cancer (heuristic)	no

Also known as: IS3 · scoliosis, isolated, susceptibility to, 3

Data availability: 2 ClinVar variants.

Disease family

Classification path: disease susceptibility › inherited disease susceptibility › scoliosis, isolated, susceptibility to › scoliosis, isolated, susceptibility to, 3

Related subtypes (5): scoliosis, isolated, susceptibility to, 1, scoliosis, isolated, susceptibility to, 2, scoliosis, isolated, susceptibility to, 4, scoliosis, isolated, susceptibility to, 5, scoliosis, isolated, susceptibility to, 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

2 retrieved; paginated sample, class counts are floors:

1 pathogenic, 1 uncertain significance

ClinVar	Variant (HGVS)	Gene	Classification	Review
1032764	NM_017780.4(CHD7):c.4994G>A (p.Trp1665Ter)	CHD7	Pathogenic	criteria provided, single submitter
2030	NM_017780.4(CHD7):c.1666-3238A>G	CHD7	Uncertain significance	no assertion criteria provided

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 0 · Orphanet: 4 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
CHD7	Orphanet:138	CHARGE syndrome
CHD7	Orphanet:39041	Omenn syndrome
CHD7	Orphanet:432	Normosmic congenital hypogonadotropic hypogonadism
CHD7	Orphanet:478	Kallmann syndrome

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
CHD7	HGNC:20626	ENSG00000171316	Q9P2D1	ATP-dependent chromatin remodeler CHD7	clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
CHD7	ATP-dependent chromatin remodeler CHD7	ATP-dependent chromatin-remodeling factor, slides nucleosomes along DNA; nucleosome sliding requires ATP.

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)
CHD7	Other/Unknown	no		SNF2_N, Chromo/chromo_shadow_dom, Helicase_C-like

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
cerebellar vermis	1
secondary oocyte	1
sural nerve	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
CHD7	269	ubiquitous	marker	secondary oocyte, cerebellar vermis, sural nerve

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
CHD7	4,819

Structural data

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

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
CHD7	Q9P2D1	3

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 1. 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
CHD6, CHD7, CHD8, CHD9 subfamily	1	148.3×	0.007	CHD7

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
right ventricular compact myocardium morphogenesis	1	16852.0×	0.002	CHD7
cranial nerve development	1	5617.3×	0.002	CHD7
olfactory nerve development	1	5617.3×	0.002	CHD7
regulation of growth hormone secretion	1	5617.3×	0.002	CHD7
chordate embryonic development	1	2808.7×	0.002	CHD7
female genitalia development	1	2407.4×	0.002	CHD7
nose development	1	2407.4×	0.002	CHD7
semicircular canal morphogenesis	1	2407.4×	0.002	CHD7
epithelium development	1	2106.5×	0.002	CHD7
olfactory behavior	1	1872.4×	0.002	CHD7
genitalia development	1	1685.2×	0.002	CHD7
atrioventricular canal development	1	1532.0×	0.002	CHD7
adult heart development	1	1203.7×	0.002	CHD7
cardiac septum morphogenesis	1	1203.7×	0.002	CHD7
secondary palate development	1	1203.7×	0.002	CHD7
ventricular trabecula myocardium morphogenesis	1	1053.2×	0.003	CHD7
aorta morphogenesis	1	887.0×	0.003	CHD7
innervation	1	887.0×	0.003	CHD7
face development	1	802.5×	0.003	CHD7
olfactory bulb development	1	766.0×	0.003	CHD7
regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum	1	674.1×	0.003	CHD7
embryonic hindlimb morphogenesis	1	581.1×	0.003	CHD7
blood circulation	1	510.7×	0.004	CHD7
adult walking behavior	1	495.6×	0.004	CHD7
positive regulation of multicellular organism growth	1	495.6×	0.004	CHD7
limb development	1	411.0×	0.004	CHD7
regulation of neurogenesis	1	401.2×	0.004	CHD7
blood vessel remodeling	1	383.0×	0.004	CHD7
T cell differentiation	1	383.0×	0.004	CHD7
heart morphogenesis	1	374.5×	0.004	CHD7

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
CHD7	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	0
D	Druggable family + AlphaFold only, no drug	0
E	Difficult family or no structure, no drug	1	CHD7

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)
CHD7	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 0.