Epilepsy, childhood absence, susceptibility to, 6

Summary

Epilepsy, childhood absence, susceptibility to, 6 (MONDO:0012763) is a disease with 1 cohort gene.

At a glance

• Cohort genes: 1
• ClinVar variants: 1,020

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	epilepsy, childhood absence, susceptibility to, 6
Mondo ID	MONDO:0012763
OMIM	611942
UMLS	C2749872
MedGen	440896
Is cancer (heuristic)	no

Also known as: CACNA1H childhood absence epilepsy · childhood absence epilepsy caused by mutation in CACNA1H · ECA6 · epilepsy, childhood absence, susceptibility to, 6 · epilepsy, childhood absence, susceptibility to, type 6 · susceptibility to childhood absence epilepsy 6

Data availability: 1,020 ClinVar variants · 2 GenCC gene-disease records.

Disease family

Classification path: disease susceptibility › inherited disease susceptibility › epilepsy, childhood absence, susceptibility to, 6

Related subtypes (283): microvascular complications of diabetes, susceptibility, Mycobacterium tuberculosis, susceptibility, bacteremia, susceptibility, pregnancy loss, recurrent, susceptibility, autoimmune thyroid disease, susceptibility to, susceptibility to HIV infection, appendicitis, proneness to, atherosclerosis susceptibility, multiple sclerosis, susceptibility to, dyslexia, susceptibility to, 1, endometriosis, susceptibility to, 1, osteoarthritis susceptibility 2, essential hypertension, genetic, osteoarthritis susceptibility 1, otitis media, susceptibility to, pelvic organ prolapse, susceptibility to, pulmonary edema of mountaineers, susceptibility to, sarcoidosis, susceptibility to, 1, strabismus, susceptibility to, thyrotoxic periodic paralysis, susceptibility to, 1, predisposition to invasive fungal disease due to CARD9 deficiency, celiac disease, susceptibility to, 1, hemolytic uremic syndrome, atypical, susceptibility to, 1, hypervitaminosis a, susceptibility to, kuru, susceptibility to, leprosy, susceptibility to, 3, nonarteritic anterior ischemic optic neuropathy, susceptibility to, diabetes mellitus, insulin-dependent, X-linked, susceptibility to, coronary heart disease, susceptibility to, 3, dyslexia, susceptibility to, 9, systemic lupus erythematosus, susceptibility to, 15, Leber optic atrophy, susceptibility to, dyslexia, susceptibility to, 2, Helicobacter pylori infection, susceptibility to, epilepsy, idiopathic generalized, susceptibility to, 1, inherited susceptibility to asthma, renal dysplasia, cystic, susceptibility to, systemic lupus erythematosus, susceptibility to, 1, leishmaniasis, tegumentary, susceptibility to, xanthomatosis, susceptibility to, hyperlipidemia, combined, 1, urinary tract infections, recurrent, susceptibility to, hypertension, essential, susceptibility to, 1, hepatic fibrosis, severe, susceptibility to, due to Schistosoma mansoni infection, dyslexia, susceptibility to, 3, Ascaris lumbricoides infection, susceptibility to, hypertension, essential, susceptibility to, 2, epilepsy, idiopathic generalized, susceptibility to, 7, systemic lupus erythematosus, susceptibility to, 2, systemic lupus erythematosus, susceptibility to, 3, nephrolithiasis, uric acid, susceptibility to, atrioventricular septal defect, susceptibility to, 2, vitiligo-associated multiple autoimmune disease susceptibility 1, polysubstance abuse, susceptibility to, dyslexia, susceptibility to, 6, glaucoma, normal tension, susceptibility to, anorexia nervosa, susceptibility to, 1, stroke, susceptibility to, 1, dyslexia, susceptibility to, 5, epilepsy, idiopathic generalized, susceptibility to, 2, familial meningioma, celiac disease, susceptibility to, 5, systemic lupus erythematosus with hemolytic anemia, susceptibility to, 1, hypertension, essential, susceptibility to, 3, coronary heart disease, susceptibility to, 1, bulimia nervosa, susceptibility to, 1, leprosy, susceptibility to, 2, epilepsy, idiopathic generalized, susceptibility to, 9, Parkinson disease 11, autosomal dominant, susceptibility to, focal segmental glomerulosclerosis 3, susceptibility to, autoimmune disease, susceptibility to, 1, osteoarthritis susceptibility 3, systemic lupus erythematosus with nephritis, susceptibility to, 1, systemic lupus erythematosus with nephritis, susceptibility to, 2, systemic lupus erythematosus with nephritis, susceptibility to, 3, coronary heart disease, susceptibility to, 2, coronary heart disease, susceptibility to, 4, autoimmune disease, susceptibility to, 2, autoimmune disease, susceptibility to, 3, systemic lupus erythematosus, susceptibility to, 4, myocardial infarction, susceptibility to, major depressive disorder 1, legionnaire disease, susceptibility to, myocardial infarction, susceptibility to, 2, major depressive disorder 2, hypertension, essential, susceptibility to, 4, epilepsy, idiopathic generalized, susceptibility to, 3, myoclonic epilepsy, juvenile, susceptibility to, 3, orofacial cleft 6, susceptibility to, coronary heart disease, susceptibility to, 5, attention deficit-hyperactivity disorder, susceptibility to, 1, attention deficit-hyperactivity disorder, susceptibility to, 2, attention deficit-hyperactivity disorder, susceptibility to, 3, attention deficit-hyperactivity disorder, susceptibility to, 4, Alzheimer disease 9, susceptibility to respiratory infections associated with CD8alpha chain mutation, dyslexia, susceptibility to, 8, autoimmune disease, susceptibility to, 4, hepatitis C virus, susceptibility to, epilepsy, idiopathic generalized, susceptibility to, 4, celiac disease, susceptibility to, 4, celiac disease, susceptibility to, 2, celiac disease, susceptibility to, 3, leprosy, susceptibility to, 1, systemic lupus erythematosus, susceptibility to, 5, systemic lupus erythematosus, susceptibility to, 6, opioid dependence, susceptibility to, 1, systemic lupus erythematosus, susceptibility to, 7, systemic lupus erythematosus, susceptibility to, 8, hypertension, essential, susceptibility to, 5, hypertension, essential, susceptibility to, 6, Parkinson disease 13, autosomal dominant, susceptibility to, West Nile virus, susceptibility to, hepatitis B virus, susceptibility to, Buruli ulcer, susceptibility to, osteoarthritis susceptibility 4, systemic lupus erythematosus, susceptibility to, 9, coronary heart disease, susceptibility to, 7, hypertension, essential, susceptibility to, 7, leprosy, susceptibility to, 4, hypertension, essential, susceptibility to, 8, epilepsy, idiopathic generalized, susceptibility to, 13, coronary heart disease, susceptibility to, 8, myoclonic epilepsy, juvenile, susceptibility to, 4, susceptibility to visceral leishmaniasis, 2, susceptibility to visceral leishmaniasis, 3, celiac disease, susceptibility to, 6, epilepsy, idiopathic generalized, susceptibility to, 5, celiac disease, susceptibility to, 7, celiac disease, susceptibility to, 8, celiac disease, susceptibility to, 9, celiac disease, susceptibility to, 10, celiac disease, susceptibility to, 11, celiac disease, susceptibility to, 12, celiac disease, susceptibility to, 13, coronary heart disease, susceptibility to, 9, systemic lupus erythematosus, susceptibility to, 10, systemic lupus erythematosus, susceptibility to, 11, systemic lupus erythematosus, susceptibility to, 12, epilepsy, childhood absence, susceptibility to, 5, attention deficit-hyperactivity disorder, susceptibility to, 5, attention deficit-hyperactivity disorder, susceptibility to, 6, systemic lupus erythematosus, susceptibility to, 13, sarcoidosis, susceptibility to, 2, sarcoidosis, susceptibility to, 3, osteoarthritis susceptibility 5, osteoarthritis susceptibility 6, focal segmental glomerulosclerosis 4, susceptibility to, epilepsy, idiopathic generalized, susceptibility to, 8, herpes simplex encephalitis, susceptibility to, 2, attention deficit-hyperactivity disorder, susceptibility to, 7, epilepsy, idiopathic generalized, susceptibility to, 10, pelvic organ prolapse, susceptibility to, 2, systemic lupus erythematosus, susceptibility to, 14, leprosy, susceptibility to, 5, thyrotoxic periodic paralysis, susceptibility to, 2, hearing loss, cisplatin-induced, susceptibility to, susceptibility to mononeuropathy of the median nerve, mild, fatty liver disease, nonalcoholic, susceptibility to, 2, leprosy, susceptibility to, 6, autoimmune disease, susceptibility to, 6, Parkinson disease 5, autosomal dominant, susceptibility to, aspergillosis, susceptibility to, sick sinus syndrome 3, susceptibility to, Parkinson disease 18, autosomal dominant, susceptibility to, epilepsy, juvenile myoclonic, susceptibility to, 9, dengue virus, susceptibility to, coronary heart disease, susceptibility to, 6, podoconiosis, susceptibility to, peripartum cardiomyopathy, susceptibility to, influenza, severe, susceptibility to, thyrotoxic periodic paralysis, susceptibility to, 3, human herpesvirus 8, susceptibility to, epilepsy, idiopathic generalized, susceptibility to, 12, herpes simplex encephalitis, susceptibility to, 3, herpes simplex encephalitis, susceptibility to, 4, pulmonary hypertension, neonatal, susceptibility to, craniosynostosis 5, susceptibility to, melioidosis, susceptibility to, chronic mountain sickness, susceptibility to, herpes simplex encephalitis, susceptibility to, 7, epilepsy, idiopathic generalized, susceptibility to, 14, hereditary neoplastic syndrome, autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency, autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency, susceptibility to localized juvenile periodontitis, inherited susceptibility to mycobacterial diseases, neural tube defects, susceptibility to, multiple system atrophy 1, susceptibility to, nephrolithiasis susceptibility caused by SLC26A1, myoclonic epilepsy, juvenile, susceptibility to, 1, epilepsy, childhood absence, susceptibility to, 1, autism, susceptiblity to, susceptibility to visceral leishmaniasis, 1, malaria, susceptibility to, spondyloarthropathy, susceptibility to, herpes simplex encephalitis, susceptibility to, 1, epilepsy, idiopathic generalized, susceptibility to, 18, epilepsy, idiopathic generalized, susceptibility to, 15, hepatitis, fulminant viral, susceptibility to, epilepsy, idiopathic generalized, susceptibility to, 16, autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial jak1 deficiency, aortic aneurysm, familial thoracic 11, susceptibility to, craniosynostosis 7, amyotrophic lateral sclerosis, susceptibility to, 24, amyotrophic lateral sclerosis, susceptibility to, 25, epilepsy, juvenile myoclonic, susceptibility to, 10, susceptibility to angioedema induced by ACE inhibitors, epidermodysplasia verruciformis, susceptibility to, exfoliation syndrome, susceptibility to, basal cell carcinoma, susceptibility to, graft-versus-host disease, susceptibility to, narcolepsy, susceptibility to, pulmonary disease, chronic obstructive, susceptibility to, restless legs syndrome, susceptibility to, psoriasis, susceptibility to, age related macular degeneration, susceptibility to, allergic rhinitis, susceptibility to, dermatitis, atopic, susceptibility to, Hirschsprung disease, susceptibility to, diabetes mellitus, ketosis-prone, schizophrenia, susceptibility to, radioulnar synostosis, nonsyndromic, susceptibility to, lumbar disk herniation, susceptibility to, lumbar disk degeneration, susceptibility to, psoriatic arthritis, susceptibility to, migraine with or without aura, susceptibility to, Alzheimer disease, susceptibility to, mitochondrial, Asperger syndrome, susceptibility to, tobacco addiction, susceptibility to, lipodystrophy, partial, acquired, susceptibility to, Graves disease, susceptibility to, 1, epilepsy, idiopathic generalized, susceptibility to, 17, breast-ovarian cancer, familial, susceptibility to, blepharospasm, benign essential, susceptibility to, hemorrhage, intracerebral, susceptibility to, IgA nephropathy, susceptibility to, hemolytic uremic syndrome, atypical, susceptibility to, 7, vitiligo-associated multiple autoimmune disease susceptibility 6, delayed sleep phase syndrome, susceptibility to, encephalitis, acute, infection-induced, susceptibility to, malignant hyperthermia, susceptibility to, multicentric Castleman disease, susceptibility to, pelvic organ prolapse, susceptibility to, 1, amyotrophic lateral sclerosis, susceptibility to, 13, Graves disease, susceptibility to, X-linked 2, autoimmune thyroid disease, susceptibility to, 5, atrioventricular septal defect, susceptibility to, 1, epilepsy, juvenile myoclonic, susceptibility to, 6, autoimmune disease, susceptibility to, 5, epilepsy, idiopathic generalized, susceptibility to, 6, seasonal affective disorder, susceptibility to, ventricular fibrillation during myocardial infarction, susceptibility to, UV-induced skin damage, susceptibility to, antisocial behavior, susceptibility to, aplastic anemia, susceptibility to, cardiomyopathy, familial hypertrophic, 4, susceptibility to, cirrhosis, noncryptogenic, susceptibility to, coronary artery disease, severe, susceptibility to, dengue fever, susceptibility to, dengue hemorrhagic fever, susceptibility to, dengue shock syndrome, susceptibility to, dyslexia, susceptibility to, 4, dyslexia, susceptibility to, 7, efavirenz central nervous system toxicity, susceptibility to, obesity, susceptibility to, bleeding disorder, platelet-type, 13, susceptibility to, Schistosoma mansoni infection, susceptibility/resistance to, Parkinson disease 24, autosomal dominant, susceptibility to, iron overload, susceptibility to, hydrocephalus, congenital, 5, susceptibility to, hearing loss, noise-induced, susceptibility to, hyperemesis gravidarum, susceptibility to, Parkinson disease 26, autosomal dominant, susceptibility to, epilepsy, idiopathic generalized, susceptibility to, 19, polycystic kidney disease 9, susceptibility to, rhabdomyolysis, susceptibility to, scoliosis, isolated, susceptibility to, dystonia 38, susceptibility to, gallbladder disease 4, epilepsy, juvenile absence, susceptibility to, GBA1-related Parkinson disease, susceptibility, SH2B3-related immune system disorder

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

600 retrieved; paginated sample, class counts are floors:

310 uncertain significance, 161 conflicting classifications of pathogenicity, 89 likely benign, 36 benign/likely benign, 2 risk factor, 1 benign, 1 likely pathogenic

ClinVar	Variant (HGVS)	Gene	Classification	Review
3393187	NM_021098.3(CACNA1H):c.3434G>A (p.Trp1145Ter)	CACNA1H	Likely pathogenic	criteria provided, single submitter
2704	NM_021098.2(CACNA1H):c.[2318G>A;2362C>T]		risk factor	no assertion criteria provided
2701	NM_021098.3(CACNA1H):c.483C>A (p.Phe161Leu)	CACNA1H	risk factor	no assertion criteria provided
1000691	NM_021098.3(CACNA1H):c.4814C>A (p.Pro1605His)	CACNA1H	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
1001887	NM_021098.3(CACNA1H):c.2231G>A (p.Arg744Gln)	CACNA1H	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
1004965	NM_021098.3(CACNA1H):c.3758G>A (p.Arg1253His)	CACNA1H	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
1011552	NM_021098.3(CACNA1H):c.391G>A (p.Glu131Lys)	CACNA1H	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
1011782	NM_021098.3(CACNA1H):c.4823G>A (p.Arg1608His)	CACNA1H	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
1015188	NM_021098.3(CACNA1H):c.3584G>A (p.Arg1195Gln)	CACNA1H	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
1015270	NM_021098.3(CACNA1H):c.6398G>T (p.Arg2133Leu)	CACNA1H	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
1015641	NM_021098.3(CACNA1H):c.1691G>A (p.Arg564His)	CACNA1H	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
1020407	NM_021098.3(CACNA1H):c.3143T>C (p.Leu1048Pro)	CACNA1H	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
1021653	NM_021098.3(CACNA1H):c.2995A>G (p.Met999Val)	CACNA1H	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
1023131	NM_021098.3(CACNA1H):c.3614G>C (p.Arg1205Pro)	CACNA1H	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
1023368	NM_021098.3(CACNA1H):c.6563G>A (p.Ser2188Asn)	CACNA1H	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
1025264	NM_021098.3(CACNA1H):c.3467G>A (p.Arg1156His)	CACNA1H	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
1032113	NM_021098.3(CACNA1H):c.2789+16C>T	CACNA1H	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
1032116	NM_021098.3(CACNA1H):c.974C>T (p.Pro325Leu)	CACNA1H	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
1041003	NM_021098.3(CACNA1H):c.6281C>T (p.Ser2094Leu)	CACNA1H	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
1042192	NM_021098.3(CACNA1H):c.2209G>A (p.Gly737Ser)	CACNA1H	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
1044087	NM_021098.3(CACNA1H):c.2545C>T (p.Pro849Ser)	CACNA1H	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
1046542	NM_021098.3(CACNA1H):c.4741C>G (p.Leu1581Val)	CACNA1H	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
1051387	NM_021098.3(CACNA1H):c.1000C>T (p.Arg334Cys)	CACNA1H	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
1051672	NM_021098.3(CACNA1H):c.919G>A (p.Gly307Ser)	CACNA1H	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
1052203	NM_021098.3(CACNA1H):c.5957C>T (p.Ser1986Leu)	CACNA1H	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
1054433	NM_021098.3(CACNA1H):c.3359C>G (p.Pro1120Arg)	CACNA1H	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
1057384	NM_021098.3(CACNA1H):c.1430G>A (p.Arg477His)	CACNA1H	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
1059293	NM_021098.3(CACNA1H):c.7013C>A (p.Ser2338Tyr)	CACNA1H	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
1059926	NM_021098.3(CACNA1H):c.3422G>A (p.Arg1141Gln)	CACNA1H	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
1060606	NM_021098.3(CACNA1H):c.6261C>T (p.Gly2087=)	CACNA1H	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 4 · Orphanet: 2 · 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
CACNA1H	Supportive	Autosomal dominant	childhood absence epilepsy	4

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
CACNA1H	Orphanet:642671	Familial hyperaldosteronism type IV
CACNA1H	Orphanet:64280	Childhood absence epilepsy

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
CACNA1H	HGNC:1395	ENSG00000196557	O95180	Voltage-dependent T-type calcium channel subunit alpha-1H	gencc,clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
CACNA1H	Voltage-dependent T-type calcium channel subunit alpha-1H	Voltage-sensitive calcium channel that gives rise to T-type calcium currents.

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
Ion channel	1	111.5×	0.009

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
CACNA1H	Ion channel	yes		VDCC_T_a1, Ion_trans_dom, Volt_channel_dom_sf

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
lower esophagus	1
lower esophagus muscularis layer	1
muscle layer of sigmoid colon	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
CACNA1H	166	broad	marker	lower esophagus muscularis layer, muscle layer of sigmoid colon, lower esophagus

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
CACNA1H	1,564

Structural data

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

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
CACNA1H	O95180	5

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 10. 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
Mechanical load activates signaling by PIEZO1 and integrins in osteocytes	1	671.8×	0.008	CACNA1H
NCAM signaling for neurite out-growth	1	271.9×	0.008	CACNA1H
Smooth Muscle Contraction	1	265.6×	0.008	CACNA1H
Cellular responses to mechanical stimuli	1	259.6×	0.008	CACNA1H
NCAM1 interactions	1	248.3×	0.008	CACNA1H
Muscle contraction	1	77.2×	0.022	CACNA1H
Axon guidance	1	45.1×	0.029	CACNA1H
Nervous system development	1	42.9×	0.029	CACNA1H
Cellular responses to stimuli	1	31.5×	0.035	CACNA1H
Developmental Biology	1	14.5×	0.069	CACNA1H

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
aldosterone biosynthetic process	1	3370.4×	0.003	CACNA1H
cortisol biosynthetic process	1	2106.5×	0.003	CACNA1H
positive regulation of acrosome reaction	1	1532.0×	0.003	CACNA1H
cellular response to potassium ion	1	1053.2×	0.003	CACNA1H
obsolete inorganic cation transmembrane transport	1	936.2×	0.003	CACNA1H
calcium ion import	1	802.5×	0.003	CACNA1H
myoblast fusion	1	601.9×	0.003	CACNA1H
calcium ion import across plasma membrane	1	543.6×	0.003	CACNA1H
regulation of heart contraction	1	495.6×	0.003	CACNA1H
cellular response to hormone stimulus	1	383.0×	0.003	CACNA1H
regulation of membrane potential	1	230.8×	0.005	CACNA1H
muscle contraction	1	208.1×	0.005	CACNA1H
muscle organ development	1	166.8×	0.006	CACNA1H

Therapeutics

Drug target analysis

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

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

Genes with an approved drug

The molecule shown is one approved compound that hits the gene — not necessarily a drug of choice or one indicated for this disease.

Symbol	Example approved molecule
CACNA1H	PIMOZIDE

Top cohort targets by molecule count

Symbol	Molecules	Max phase
CACNA1H	10	4

Drugs targeting cohort genes (top 30)

Molecule	Max phase	Targets in cohort
PIMOZIDE	4	CACNA1H
MIBEFRADIL	4	CACNA1H
NIMODIPINE	4	CACNA1H
TACRINE	4	CACNA1H
CILNIDIPINE	3	CACNA1H
SUVECALTAMIDE	2	CACNA1H
FLUNARIZINE	2	CACNA1H
APINOCALTAMIDE	2	CACNA1H
Z160	2	CACNA1H
ULIXACALTAMIDE	1	CACNA1H

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 0.

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

Symbol	Assays	Type breakdown
CACNA1H	124	Binding:102, Functional:17, ADMET:4, Toxicity:1

Cohort genes with high screening signal

≥100 ChEMBL assays — a studied-ness signal; see Therapeutics for approved-drug status.

Symbol	ChEMBL assays
CACNA1H	124

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

10 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.

Compound	Max phase	Cohort target (bioactivity)
PIMOZIDE	4	CACNA1H
MIBEFRADIL	4	CACNA1H
NIMODIPINE	4	CACNA1H
TACRINE	4	CACNA1H
CILNIDIPINE	3	CACNA1H
SUVECALTAMIDE	2	CACNA1H
FLUNARIZINE	2	CACNA1H
APINOCALTAMIDE	2	CACNA1H
Z160	2	CACNA1H
ULIXACALTAMIDE	1	CACNA1H

Druggability pyramid

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

Tier	Definition	Genes	Symbols
A	Approved (phase 4 drug)	1	CACNA1H
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	0

Undrugged target profiles

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

Clinical trials & evidence

Clinical trials

Clinical trials: 0.