Situs inversus

disease

On this page

Also known as complete situs inversuscomplete situs inversus viscerumcomplete transposition (morphologic abnormality)situs inversus totalissitus inversus totalis (disease)

Summary

Situs inversus (MONDO:0010029) is a disease with 14 cohort genes and 1 clinical trial.

At a glance

Cohort genes: 14
ClinVar variants: 74
Clinical trials: 1

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	situs inversus
Mondo ID	MONDO:0010029
MeSH	D012857
Orphanet	101063
DOID	DOID:758
ICD-10-CM	Q89.3
ICD-11	797648408
NCIT	C87121
SNOMED CT	24614000
UMLS	C4551493
MedGen	1642262
GARD	0004883
Is cancer (heuristic)	no

Also known as: complete situs inversus · complete situs inversus viscerum · complete transposition (morphologic abnormality) · situs inversus · situs inversus totalis · situs inversus totalis (disease)

Data availability: 74 ClinVar variants · 8 GenCC gene-disease records · 1 HPO phenotype.

Disease family

An umbrella term covering 1 Mondo subtype.

Classification path: disease › human disease › disease by body system or component › syndromic disease › visceral heterotaxy › situs inversus

Subtypes (1): situs inversus totalis with cystic dysplasia of kidneys and pancreas

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

74 retrieved; paginated sample, class counts are floors:

24 uncertain significance, 17 likely benign, 15 benign, 8 conflicting classifications of pathogenicity, 6 likely pathogenic, 3 benign/likely benign, 1 pathogenic/likely pathogenic

ClinVar	Variant (HGVS)	Gene	Classification	Review
235796	NM_138295.5(PKD1L1):c.6473+2_6473+3del	PKD1L1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
982437	NM_033656.4(BRWD1):c.5573A>T (p.Gln1858Leu)	BRWD1	Likely pathogenic	no assertion criteria provided
1443577	NM_145054.5(CFAP52):c.536+1G>T	CFAP52	Likely pathogenic	criteria provided, single submitter
455029	NM_213607.3(DNAAF19):c.568_569dup (p.Ser190fs)	DNAAF19	Likely pathogenic	criteria provided, multiple submitters, no conflicts
1678873	NM_001277115.2(DNAH11):c.3253C>T (p.Gln1085Ter)	DNAH11	Likely pathogenic	no assertion criteria provided
635005	NM_018365.4(MNS1):c.407_410del (p.Glu136fs)	MNS1	Likely pathogenic	criteria provided, single submitter
3075968	NM_138295.5(PKD1L1):c.7825C>T (p.Gln2609Ter)	PKD1L1	Likely pathogenic	criteria provided, single submitter
982436	NM_033656.4(BRWD1):c.523C>T (p.His175Tyr)	BRWD1	Conflicting classifications of pathogenicity	no assertion criteria provided
1001316	NM_145054.5(CFAP52):c.734C>T (p.Ala245Val)	CFAP52	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
1038824	NM_145054.5(CFAP52):c.1106G>A (p.Arg369Gln)	CFAP52	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
1285595	NM_145054.5(CFAP52):c.1304del (p.Gly435fs)	CFAP52	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
707233	NM_145054.5(CFAP52):c.788G>A (p.Gly263Asp)	CFAP52	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
579419	NM_001369.3(DNAH5):c.11476C>T (p.Leu3826Phe)	DNAH5	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
906737	NM_001369.3(DNAH5):c.5880C>T (p.Asp1960=)	DNAH5	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
235198	NM_138295.5(PKD1L1):c.5072G>C (p.Cys1691Ser)	PKD1L1	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
982514	NM_033656.4(BRWD1):c.1016T>C (p.Leu339Ser)	BRWD1	Uncertain significance	no assertion criteria provided
1678874	NM_001277115.2(DNAH11):c.13346_13367del (p.Arg4449fs)	CDCA7L	Uncertain significance	criteria provided, single submitter
1054061	NM_145054.5(CFAP52):c.1601G>C (p.Gly534Ala)	CFAP52	Uncertain significance	criteria provided, multiple submitters, no conflicts
1369782	NM_145054.5(CFAP52):c.1592T>C (p.Val531Ala)	CFAP52	Uncertain significance	criteria provided, multiple submitters, no conflicts
1416427	NM_145054.5(CFAP52):c.1652T>C (p.Met551Thr)	CFAP52	Uncertain significance	criteria provided, multiple submitters, no conflicts
1419105	NM_145054.5(CFAP52):c.244G>A (p.Gly82Arg)	CFAP52	Uncertain significance	criteria provided, single submitter
1510687	NM_145054.5(CFAP52):c.1027G>A (p.Gly343Ser)	CFAP52	Uncertain significance	criteria provided, multiple submitters, no conflicts
4763220	NM_145054.5(CFAP52):c.69T>A (p.Asn23Lys)	CFAP52	Uncertain significance	criteria provided, single submitter
544338	NM_145054.5(CFAP52):c.199G>A (p.Val67Ile)	CFAP52	Uncertain significance	criteria provided, multiple submitters, no conflicts
565466	NM_145054.5(CFAP52):c.1442C>G (p.Thr481Ser)	CFAP52	Uncertain significance	criteria provided, single submitter
573466	NM_145054.5(CFAP52):c.1492A>G (p.Met498Val)	CFAP52	Uncertain significance	criteria provided, single submitter
574037	NM_145054.5(CFAP52):c.1625G>A (p.Gly542Asp)	CFAP52	Uncertain significance	criteria provided, single submitter
581962	NM_145054.5(CFAP52):c.1404G>T (p.Arg468Ser)	CFAP52	Uncertain significance	criteria provided, single submitter
582339	NM_145054.5(CFAP52):c.1430T>C (p.Val477Ala)	CFAP52	Uncertain significance	criteria provided, multiple submitters, no conflicts
641856	NM_145054.5(CFAP52):c.189delinsAGCA (p.His63delinsGlnAla)	CFAP52	Uncertain significance	criteria provided, multiple submitters, no conflicts

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 29 · Orphanet: 24 · 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
ANKS3	Supportive	Autosomal dominant	situs inversus	2
CFAP52	Supportive	Autosomal dominant	situs inversus	2
CFAP53	Supportive	Autosomal dominant	situs inversus	2
DNAH9	Supportive	Autosomal dominant	situs inversus	7
MMP21	Supportive	Autosomal dominant	situs inversus	4
NME7	Supportive	Autosomal dominant	situs inversus
NODAL	Supportive	Autosomal dominant	situs inversus	5
PKD1L1	Supportive	Autosomal dominant	situs inversus	6

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
CFAP52	Orphanet:101063	Situs inversus totalis
PKD1L1	Orphanet:101063	Situs inversus totalis
PKD1L1	Orphanet:157769	Situs ambiguus
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
MMP21	Orphanet:101063	Situs inversus totalis
MMP21	Orphanet:157769	Situs ambiguus
NME7	Orphanet:101063	Situs inversus totalis
CFAP53	Orphanet:101063	Situs inversus totalis
CFAP53	Orphanet:157769	Situs ambiguus
ANKS3	Orphanet:101063	Situs inversus totalis
DNAH9	Orphanet:101063	Situs inversus totalis
DNAH9	Orphanet:157769	Situs ambiguus
DNAH9	Orphanet:244	Primary ciliary dyskinesia
BRWD1	Orphanet:244	Primary ciliary dyskinesia
DNAH11	Orphanet:244	Primary ciliary dyskinesia
DNAH5	Orphanet:244	Primary ciliary dyskinesia
DNAAF19	Orphanet:244	Primary ciliary dyskinesia

Cohort genes → proteins

14 cohort genes, 14 distinct canonical proteins.

Evidence partition

Subset	Genes
multi_evidence	14

Cohort genes (full)

Symbol	HGNC	Ensembl	UniProt	Name	Evidence
CFAP52	HGNC:16053	ENSG00000166596	Q8N1V2	Cilia- and flagella-associated protein 52	gencc,clinvar
PKD1L1	HGNC:18053	ENSG00000158683	Q8TDX9	Polycystin-1-like protein 1	gencc,clinvar
NODAL	HGNC:7865	ENSG00000156574	Q96S42	Nodal homolog	gencc,clinvar
MMP21	HGNC:14357	ENSG00000154485	Q8N119	Matrix metalloproteinase-21	gencc
NME7	HGNC:20461	ENSG00000143156	Q9Y5B8	Nucleoside diphosphate kinase 7	gencc
CFAP53	HGNC:26530	ENSG00000172361	Q96M91	Cilia- and flagella-associated protein 53	gencc
ANKS3	HGNC:29422	ENSG00000168096	Q6ZW76	Ankyrin repeat and SAM domain-containing protein 3	gencc
DNAH9	HGNC:2953	ENSG00000007174	Q9NYC9	Dynein axonemal heavy chain 9	gencc
BRWD1	HGNC:12760	ENSG00000185658	Q9NSI6	Bromodomain and WD repeat-containing protein 1	clinvar
DNAH11	HGNC:2942	ENSG00000105877	Q96DT5	Dynein axonemal heavy chain 11	clinvar
DNAH5	HGNC:2950	ENSG00000039139	Q8TE73	Dynein axonemal heavy chain 5	clinvar
MNS1	HGNC:29636	ENSG00000138587	Q8NEH6	Meiosis-specific nuclear structural protein 1	clinvar
CDCA7L	HGNC:30777	ENSG00000164649	Q96GN5	Cell division cycle-associated 7-like protein	clinvar
DNAAF19	HGNC:32700	ENSG00000167131	Q8IW40	Dynein axonemal assembly factor 19	clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
CFAP52	Cilia- and flagella-associated protein 52	Microtubule inner protein (MIP) part of the dynein-decorated doublet microtubules (DMTs) in cilia axoneme.
PKD1L1	Polycystin-1-like protein 1	Component of a calcium-permeant ion channel formed by PKD1L2 and PKD1L1 in primary cilia, where it controls cilium calcium concentration, without affecting cytoplasmic calcium concentration, and regulates sonic hedgehog/SHH signaling and G…
NODAL	Nodal homolog	Essential for mesoderm formation and axial patterning during embryonic development.
MMP21	Matrix metalloproteinase-21	Plays a specialized role in the generation of left-right asymmetry during embryogenesis.
NME7	Nucleoside diphosphate kinase 7	Possesses an intrinsic kinase activity.
CFAP53	Cilia- and flagella-associated protein 53	Microtubule inner protein (MIP) part of the dynein-decorated doublet microtubules (DMTs) in cilia axoneme, which is required for motile cilia beating.
ANKS3	Ankyrin repeat and SAM domain-containing protein 3	May be involved in vasopressin signaling in the kidney.
DNAH9	Dynein axonemal heavy chain 9	Force generating protein required for cilia beating in respiratory epithelia.
BRWD1	Bromodomain and WD repeat-containing protein 1	May be a transcriptional activator.
DNAH11	Dynein axonemal heavy chain 11	Force generating protein required for cilia beating in respiratory epithelia.
DNAH5	Dynein axonemal heavy chain 5	Force generating protein of respiratory cilia.
MNS1	Meiosis-specific nuclear structural protein 1	Microtubule inner protein (MIP) part of the dynein-decorated doublet microtubules (DMTs) in cilia axoneme, which is required for motile cilia beating.
CDCA7L	Cell division cycle-associated 7-like protein	Plays a role in transcriptional regulation as a repressor that inhibits monoamine oxidase A (MAOA) activity and gene expression by binding to the promoter.
DNAAF19	Dynein axonemal assembly factor 19	Dynein-attachment factor required for cilia motility.

Protein-family classification

Druggable: 3 · Difficult: 5 · Unknown: 6 · Druggable fraction: 0.21

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
Scaffold/PPI	3	3.7×	0.261
Protease	1	2.6×	0.603
Antibody/Immunoglobulin	1	2.1×	0.603
Kinase	1	2.0×	0.603
Transcription factor	2	1.2×	0.623
Other/Unknown	6	0.8×	0.893

Per-gene assignment

Symbol	Family	Druggable?	InterPro (top 3)
CFAP52	Scaffold/PPI	no	WD40_rpt, WD40/YVTN_repeat-like_dom_sf, WD40_repeat_CS
PKD1L1	Antibody/Immunoglobulin	yes	PKD_dom, PLAT/LH2_dom, PKD/REJ-like
NODAL	Other/Unknown	no	TGF-b_C, TGF-beta-like, TGFb_CS
MMP21	Protease	yes	Hemopexin-like_dom, Pept_M10_metallopeptidase, Peptidoglycan-bd-like
NME7	Kinase	yes	Nucleoside_diP_kinase, DM10_dom, NDPK7
CFAP53	Transcription factor	no	CFAP53/TCHP, TPH_dom
ANKS3	Scaffold/PPI	no	SAM, Ankyrin_rpt, SAM/pointed_sf
DNAH9	Other/Unknown	no	AAA+_ATPase, Dhc_D6_P-loop, Dynein_heavy_tail
BRWD1	Scaffold/PPI	no	Bromodomain, WD40_rpt, WD40/YVTN_repeat-like_dom_sf
DNAH11	Other/Unknown	no	AAA+_ATPase, Dhc_D6_P-loop, Dynein_heavy_tail
DNAH5	Other/Unknown	no	AAA+_ATPase, Dhc_D6_P-loop, Dynein_heavy_tail
MNS1	Other/Unknown	no	MNS1, TPH_dom
CDCA7L	Transcription factor	no	Znf-4CXXC_R1, CDCA7/CDA7L
DNAAF19	Other/Unknown	no	RPAP3-like_C, Dynein_attach_N, CC103

Expression context

Cohort genes with no expression data: 0.

11 cohort genes 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)	14
unknown	0

Top tissues across cohort

Tissue	Cohort genes
bronchial epithelial cell	6
bronchus	4
right uterine tube	4
male germ line stem cell (sensu Vertebrata) in testis	3
primordial germ cell in gonad	3
left testis	2
epithelium of bronchus	2
apex of heart	1
cardiac muscle of right atrium	1
left ventricle myocardium	1
upper arm skin	1
corpus epididymis	1
cerebellar vermis	1
pons	1
superior vestibular nucleus	1
cerebellar cortex	1
cerebellar hemisphere	1
right hemisphere of cerebellum	1
calcaneal tendon	1
cortical plate	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
CFAP52	170	tissue_specific	marker	bronchial epithelial cell, right uterine tube, bronchus
PKD1L1	150	tissue_specific	marker	male germ line stem cell (sensu Vertebrata) in testis, apex of heart, primordial germ cell in gonad
NODAL	138	tissue_specific	marker	upper arm skin, cardiac muscle of right atrium, left ventricle myocardium
MMP21	160		yes	primordial germ cell in gonad, corpus epididymis, male germ line stem cell (sensu Vertebrata) in testis
NME7	281	ubiquitous	marker	cerebellar vermis, pons, superior vestibular nucleus
CFAP53	194	broad	marker	bronchial epithelial cell, bronchus, left testis
ANKS3	195	ubiquitous	yes	cerebellar hemisphere, right hemisphere of cerebellum, cerebellar cortex
DNAH9	184	broad	marker	right uterine tube, bronchial epithelial cell, epithelium of bronchus
BRWD1	266	ubiquitous	marker	cortical plate, sural nerve, calcaneal tendon
DNAH11	163	broad	marker	right uterine tube, bronchial epithelial cell, bronchus
DNAH5	184	broad	marker	bronchial epithelial cell, bronchus, oviduct epithelium
MNS1	227	ubiquitous	marker	bronchial epithelial cell, epithelium of bronchus, right uterine tube
CDCA7L	239	ubiquitous	marker	germinal epithelium of ovary, primordial germ cell in gonad, ventricular zone
DNAAF19	130	broad	yes	male germ line stem cell (sensu Vertebrata) in testis, left testis, testis

Protein interactions among cohort

Intra-cohort edges: 10.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
NME7	6,011
BRWD1	2,695
DNAH9	1,841
DNAH5	1,834
MNS1	1,669
DNAH11	1,666
CFAP53	1,448
CDCA7L	1,413
ANKS3	1,410
CFAP52	1,350

Intra-cohort edges

A	B	Sources
CDCA7L	DNAH11	string_interaction
CFAP52	CFAP53	string_interaction
CFAP52	MMP21	string_interaction
CFAP53	DNAH5	string_interaction
CFAP53	MMP21	string_interaction
CFAP53	MNS1	string_interaction
CFAP53	PKD1L1	string_interaction
DNAAF19	DNAH11	string_interaction
DNAAF19	DNAH9	string_interaction
MMP21	PKD1L1	string_interaction

Structural data

PDB: 10 · AlphaFold-only: 4 · No structure: 0

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
CFAP52	Q8N1V2	2
NME7	Q9Y5B8	2
CFAP53	Q96M91	2
ANKS3	Q6ZW76	2
MNS1	Q8NEH6	2
CDCA7L	Q96GN5	2
NODAL	Q96S42	1
DNAH9	Q9NYC9	1
BRWD1	Q9NSI6	1
DNAH5	Q8TE73	1

AlphaFold-only cohort genes (top 30 by pLDDT)

Symbol	UniProt	pLDDT
MMP21	Q8N119	84.44
DNAAF19	Q8IW40	80.42
PKD1L1	Q8TDX9
DNAH11	Q96DT5

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 17. Enrichment computed across 14 evidence-associated genes (3 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 3 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	317.2×	0.050	NODAL
Signaling by NODAL	1	165.5×	0.050	NODAL
Interleukin-7 signaling	1	105.7×	0.050	BRWD1
Centrosome maturation	1	84.6×	0.050	NME7
Recruitment of mitotic centrosome proteins and complexes	1	45.3×	0.054	NME7
Mitotic G2-G2/M phases	1	42.3×	0.054	NME7
G2/M Transition	1	42.3×	0.054	NME7
Recruitment of NuMA to mitotic centrosomes	1	38.8×	0.054	NME7
Chromatin organization	1	27.2×	0.060	BRWD1
Chromatin modifying enzymes	1	24.1×	0.060	BRWD1
Mitotic Prometaphase	1	23.1×	0.060	NME7
M Phase	1	22.0×	0.060	NME7
Signaling by Interleukins	1	21.4×	0.060	BRWD1
Cell Cycle, Mitotic	1	16.1×	0.074	NME7
Cytokine Signaling in Immune system	1	13.6×	0.081	BRWD1
Cell Cycle	1	12.0×	0.086	NME7
Immune System	1	4.3×	0.214	BRWD1

GO biological processes by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 13 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

GO term	Cohort genes	Fold	FDR	Sample cohort genes
determination of left/right symmetry	6	117.8×	5e-10	MMP21, NME7, CFAP53, DNAH11, DNAH5, DNAAF19
flagellated sperm motility	6	54.0×	3e-08	CFAP52, NME7, CFAP53, DNAH11, DNAH5, MNS1
cilium movement	4	120.6×	9e-07	CFAP53, DNAH5, DNAH9, DNAAF19
epithelial cilium movement involved in determination of left/right asymmetry	3	299.1×	3e-06	CFAP53, DNAH11, DNAAF19
epithelial cilium movement involved in extracellular fluid movement	3	176.8×	1e-05	NME7, DNAH5, DNAAF19
cilium movement involved in cell motility	3	155.6×	1e-05	DNAH11, DNAH5, DNAH9
left/right axis specification	2	185.2×	7e-04	PKD1L1, MNS1
outer dynein arm assembly	2	112.7×	0.002	DNAH5, DNAAF19
polarity specification of proximal/distal axis	1	1296.3×	0.006	NODAL
floor plate morphogenesis	1	1296.3×	0.006	NODAL
axial mesodermal cell fate specification	1	1296.3×	0.006	NODAL
epiblast cell-extraembryonic ectoderm cell signaling	1	1296.3×	0.006	NODAL
cilium assembly	3	17.0×	0.006	NME7, CFAP53, DNAH5
heart looping	2	41.1×	0.008	NODAL, DNAAF19
trophectodermal cellular morphogenesis	1	648.1×	0.008	NODAL
negative regulation of cell development	1	648.1×	0.008	NODAL
determination of left/right asymmetry in nervous system	1	648.1×	0.008	DNAH11
left lung morphogenesis	1	648.1×	0.008	NODAL
negative regulation of chorionic trophoblast cell proliferation	1	648.1×	0.008	NODAL
detection of nodal flow	1	432.1×	0.011	PKD1L1
microtubule sliding	1	432.1×	0.011	CFAP52
neural fold formation	1	324.1×	0.013	NODAL
inhibition of neuroepithelial cell differentiation	1	324.1×	0.013	NODAL
formation of anatomical boundary	1	324.1×	0.013	NODAL
establishment of localization in cell	2	24.7×	0.013	DNAH5, DNAH9
maternal process involved in parturition	1	259.3×	0.014	NODAL
determination of heart left/right asymmetry	1	259.3×	0.014	MMP21
protein localization to motile cilium	1	259.3×	0.014	DNAH11
regulation of gastrulation	1	216.1×	0.016	NODAL
determination of digestive tract left/right asymmetry	1	216.1×	0.016	DNAAF19

Therapeutics

Drug target analysis

Approved (phase 4): 0 · Phase ≥3: 0 · Phased (≥1): 0 · Undrugged: 14

Druggability breadth: 2 of 14 evidence-associated genes (14%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).

Top cohort targets by molecule count

Symbol	Molecules	Max phase
CFAP52	0	0
PKD1L1	0	0
NODAL	0	0
MMP21	0	0
NME7	0	0
CFAP53	0	0
ANKS3	0	0
DNAH9	0	0
BRWD1	0	0
DNAH11	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
BRWD1	37	Binding:37
MNS1	1	Binding:1

Pharmacogenomics

Cohort genes with a PharmGKB record: 14; 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	NME7
D	Druggable family + AlphaFold only, no drug	2	PKD1L1, MMP21
E	Difficult family or no structure, no drug	11	CFAP52, NODAL, CFAP53, ANKS3, DNAH9, BRWD1, DNAH11, DNAH5, MNS1, CDCA7L (+1 more)

Undrugged target profiles

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

Symbol	ChEMBL assays	Drugged partners (top 3)
CFAP52	0	—
PKD1L1	0	—
NODAL	0	—
MMP21	0	—
NME7	0	—
CFAP53	0	—
ANKS3	0	—
DNAH9	0	—
BRWD1	37	—
DNAH11	0	—
DNAH5	0	—
MNS1	1	—
CDCA7L	0	—
DNAAF19	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 1.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT00608556	Not specified	COMPLETED	Dyskinesia, Heterotaxy and Congenital Heart Disease

Cohort genes: CFAP52, PKD1L1, NODAL, MMP21, NME7, CFAP53, ANKS3, DNAH9, BRWD1, DNAH11, DNAH5, MNS1, CDCA7L, DNAAF19