Congenital stationary night blindness autosomal dominant 2

Summary

Congenital stationary night blindness autosomal dominant 2 (MONDO:0008099) is a disease caused by PDE6B (GenCC Strong), with 3 cohort genes.

At a glance

• Causal gene: PDE6B (GenCC Strong)
• Cohort genes: 3
• ClinVar variants: 139

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	congenital stationary night blindness autosomal dominant 2
Mondo ID	MONDO:0008099
MeSH	C566869
OMIM	163500
DOID	DOID:0110863
UMLS	C1876182
MedGen	361814
GARD	0015096
Is cancer (heuristic)	no

Also known as: congenital stationary night blindness autosomal dominant type 2 · congenital stationary night blindness caused by mutation in PDE6B · CSNBAD2 · night blindness, congenital stationary, autosomal dominant 2 · night blindness, congenital stationary, autosomal dominant type 2 · PDE6B congenital stationary night blindness

Data availability: 139 ClinVar variants · 4 GenCC gene-disease records.

Disease family

Classification path: disease › human disease › disease by body system or component › nervous system disorder › congenital nervous system disorder › congenital stationary night blindness autosomal dominant 2

Related subtypes (216): polymicrogyria, congenital myasthenic syndrome with tubular aggregates, prenatal-onset spinal muscular atrophy with congenital bone fractures, anencephaly, cerebral cavernous malformation, meningocele, progressive external ophthalmoplegia, congenital nystagmus, congenital toxoplasmosis, congenital contractural arachnodactyly, congenital trigeminal anesthesia, familial congenital palsy of trochlear nerve, Myhre syndrome, Aase-Smith syndrome, KBG syndrome, autosomal dominant primary microcephaly, Mobius syndrome, MYH7-related skeletal myopathy, Prader-Willi syndrome, congenital myopathy 7A, myosin storage, autosomal dominant, Smith-Magenis syndrome, spina bifida, Freeman-Sheldon syndrome, isolated cerebellar hypoplasia/agenesis, Chediak-Higashi syndrome, Cohen syndrome, multiple pterygium-malignant hyperthermia syndrome, corpus callosum, agenesis of, congenital lactic acidosis, Saguenay-Lac-Saint-Jean type, facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome, diastematomyelia, EEM syndrome, Mowat-Wilson syndrome, Johanson-Blizzard syndrome, intellectual disability, Buenos-Aires type, myasthenia, congenital, refractory to acetylcholinesterase inhibitors, congenital myasthenic syndrome 6, Bailey-Bloch congenital myopathy, congenital stationary night blindness 1B, radioulnar synostosis-developmental delay-hypotonia syndrome, Schinzel-Giedion syndrome, schizencephaly, intellectual disability, Wolff type, X-linked intellectual disability-plagiocephaly syndrome, X-linked adrenal hypoplasia congenita, syndromic X-linked intellectual disability 7, syndromic X-linked intellectual disability Shashi type, syndromic X-linked intellectual disability Lubs type, syndromic X-linked intellectual disability Abidi type, syndromic X-linked intellectual disability Siderius type, X-linked intellectual disability, Cabezas type, X-linked intellectual disability-cubitus valgus-dysmorphism syndrome, syndromic X-linked intellectual disability Claes-Jensen type, moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome, multiple congenital anomalies-hypotonia-seizures syndrome 2, developmental and epileptic encephalopathy, 36, blepharophimosis - intellectual disability syndrome, MKB type, X-linked intellectual disability-short stature-overweight syndrome, intellectual disability, X-linked, syndromic 33, syndromic X-linked intellectual disability 34, infantile-onset X-linked spinal muscular atrophy, syndromic X-linked intellectual disability 5, holoprosencephaly-hypokinesia-congenital contractures syndrome, X-linked intellectual disability with marfanoid habitus, Wieacker-Wolff syndrome, MERRF syndrome, macrocephaly-spastic paraplegia-dysmorphism syndrome, intellectual disability-sparse hair-brachydactyly syndrome, myofibrillar myopathy 1, isolated hereditary congenital facial paralysis, fibrosis of extraocular muscles, congenital, 2, Pierpont syndrome, congenital cataracts-facial dysmorphism-neuropathy syndrome, Bohring-Opitz syndrome, PHACE syndrome, B4GALT1-congenital disorder of glycosylation, developmental malformations-deafness-dystonia syndrome, sensory ataxic neuropathy, dysarthria, and ophthalmoparesis, AICA-ribosiduria, myofibrillar myopathy 3, fibrosis of extraocular muscles, congenital, 3c, myofibrillar myopathy 4, myofibrillar myopathy 5, cone-rod synaptic disorder, congenital nonprogressive, congenital stationary night blindness autosomal dominant 3, congenital stationary night blindness autosomal dominant 1, intellectual disability, autosomal recessive 12, progressive myoclonic epilepsy type 3, chromosome 15q13.3 microdeletion syndrome, combined pituitary hormone deficiencies, genetic form, congenital stationary night blindness 1D, DYRK1A-related intellectual disability syndrome, Pitt-Hopkins-like syndrome 2, developmental and epileptic encephalopathy, 15, Schuurs-Hoeijmakers syndrome, severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome, severe intellectual disability-progressive spastic diplegia syndrome, hypotonia, infantile, with psychomotor retardation and characteristic facies, developmental and epileptic encephalopathy, 18, CTCF-related neurodevelopmental disorder, autism spectrum disorder due to AUTS2 deficiency, developmental and epileptic encephalopathy, 23, ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder, Bardet-Biedl syndrome 11, cerebellar-facial-dental syndrome, fibrosis of extraocular muscles, congenital, 5, congenital myasthenic syndrome 15, lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome, autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome, congenital myasthenic syndrome 18, autosomal recessive spinocerebellar ataxia 20, Houge-Janssens syndrome 1, intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome, congenital stationary night blindness 1G, hypomyelinating leukodystrophy 10, developmental and epileptic encephalopathy, 50, congenital insensitivity to pain-hypohidrosis syndrome, macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome, SLC39A8-CDG, spastic paraplegia-severe developmental delay-epilepsy syndrome, cardiac anomalies - developmental delay - facial dysmorphism syndrome, severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome, intellectual disability, autosomal recessive 53, TELO2-related intellectual disability-neurodevelopmental disorder, micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome, autosomal recessive limb-girdle muscular dystrophy type 2Y, myofibrillar myopathy 7, short stature-brachydactyly-obesity-global developmental delay syndrome, autosomal recessive limb-girdle muscular dystrophy type 2R1, severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome, congenital laryngeal palsy, congenital or early infantile CACH syndrome, congenital epulis, severe congenital nemaline myopathy, intermediate nemaline myopathy, typical nemaline myopathy, childhood-onset nemaline myopathy, adult-onset nemaline myopathy, qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan, holoprosencephaly, congenital insensitivity to pain with hyperhidrosis, congenital hydrocephalus, familial congenital mirror movements, macrocephaly-short stature-paraplegia syndrome, cephalocele, mitochondrial neurogastrointestinal encephalomyopathy, X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome, 7p22.1 microduplication syndrome, congenital achiasma, congenital retinal arteriovenous communication, 3q27.3 microdeletion syndrome, Prader-Willi-like syndrome, 9q31.1q31.3 microdeletion syndrome, congenital oculomotor nerve palsy, congenital abducens nerve palsy, neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome, congenital insensitivity to pain with severe intellectual disability, X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome, global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome, lissencephaly spectrum disorders, hyaline body myopathy, 22q11.2 deletion syndrome, craniorachischisis, Leber congenital amaurosis, Ritscher-Schinzel syndrome, Rubinstein-Taybi syndrome, X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome, X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome, X-linked intellectual disability, Pai type, X-linked intellectual disability, Stevenson type, X-linked intellectual disability, Stoll type, congenital muscular dystrophy, congenital vitreoretinal dysplasia, periventricular nodular heterotopia, postsynaptic congenital myasthenic syndrome, subcortical band heterotopia, congenital fibrosis of extraocular muscles type 1, Al Gazali Khidr Prem Chandran syndrome, distal arthrogryposis Moore weaver type, congenital myotonic dystrophy, myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive, intellectual disability, autosomal dominant 47, intellectual disability, autosomal dominant 48, spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis, myasthenic syndrome, congenital, 23, presynaptic, myasthenic syndrome, congenital, 24, presynaptic, myasthenic syndrome, congenital, 25, presynaptic, developmental and epileptic encephalopathy, 77, night blindness, congenital stationary, type1i, neuropathy, congenital hypomelinating, congenital axonal neuropathy with encephalopathy, developmental and epileptic encephalopathy, 73, PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome, isolated exencephaly, myasthenic syndrome, congenital, 22, intellectual developmental disorder with gastrointestinal difficulties and high pain threshold, intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies, 9q33.3q34.11 microdeletion syndrome, congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome, early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome, SIN3A-related intellectual disability syndrome, childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder, X-linked congenital stationary night blindness, neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies, FOXG1 disorder, alpha-actinopathy, TPM3-related myopathy, X-linked recessive mitochondrial myopathy, RYR1-related myopathy, TTN-related myopathy, TPM2-related myopathy, myopathy caused by variation in POMGNT1, central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease, segmental spinal dysgenesis, myopathy, myofibrillar, 13, with rimmed vacuoles, congenital neuronal ceroid lipofuscinosis 10

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

139 retrieved; paginated sample, class counts are floors:

67 conflicting classifications of pathogenicity, 45 uncertain significance, 12 benign/likely benign, 6 pathogenic, 5 benign, 2 pathogenic/likely pathogenic, 2 likely pathogenic

ClinVar	Variant (HGVS)	Gene	Classification	Review
1070411	NM_000283.4(PDE6B):c.1798G>A (p.Asp600Asn)	PDE6B	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1358080	NM_000283.4(PDE6B):c.262C>T (p.Gln88Ter)	PDE6B	Pathogenic	criteria provided, multiple submitters, no conflicts
167440	NM_000283.4(PDE6B):c.2193+1G>A	PDE6B	Pathogenic	criteria provided, multiple submitters, no conflicts
866296	NM_000283.4(PDE6B):c.1954C>T (p.Gln652Ter)	PDE6B	Pathogenic	criteria provided, multiple submitters, no conflicts
986375	NM_000283.4(PDE6B):c.1927_1948del (p.Asn643fs)	PDE6B	Pathogenic	criteria provided, single submitter
13107	NM_000283.4(PDE6B):c.772C>A (p.His258Asn)	PDE6B-AS1	Pathogenic	criteria provided, single submitter
3359131	NM_004727.3(SLC24A1):c.642dup (p.Thr215fs)	SLC24A1	Pathogenic	criteria provided, single submitter
560508	NM_004727.3(SLC24A1):c.754_755del (p.Met252fs)	SLC24A1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
3068349	NM_000283.4(PDE6B):c.241del (p.Arg81fs)	PDE6B	Likely pathogenic	criteria provided, single submitter
3382926	NM_000283.4(PDE6B):c.861dup (p.Asp288Ter)	PDE6B	Likely pathogenic	criteria provided, single submitter
138638	NM_000283.4(PDE6B):c.711+10C>T	PDE6B	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
167438	NM_000283.4(PDE6B):c.1401+4C>T	PDE6B	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
193074	NM_000283.4(PDE6B):c.132C>G (p.Cys44Trp)	PDE6B	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
195457	NM_000283.4(PDE6B):c.2344G>A (p.Val782Met)	PDE6B	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
197127	NM_000283.4(PDE6B):c.794G>A (p.Arg265Gln)	PDE6B	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
197654	NM_000283.4(PDE6B):c.905G>A (p.Gly302Asp)	PDE6B	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
287073	NM_000283.4(PDE6B):c.2152G>A (p.Asp718Asn)	PDE6B	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
288747	NM_000283.4(PDE6B):c.2504-1G>C	PDE6B	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
349288	NM_000283.4(PDE6B):c.133G>A (p.Asp45Asn)	PDE6B	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
349289	NM_000283.4(PDE6B):c.170C>T (p.Thr57Met)	PDE6B	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
349290	NM_000283.4(PDE6B):c.204G>C (p.Glu68Asp)	PDE6B	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
349292	NM_000283.4(PDE6B):c.270C>T (p.Asp90=)	PDE6B	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
349308	NM_000283.4(PDE6B):c.482G>A (p.Ser161Asn)	PDE6B	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
349310	NM_000283.4(PDE6B):c.496G>A (p.Glu166Lys)	PDE6B	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
349312	NM_000283.4(PDE6B):c.682C>A (p.Leu228Ile)	PDE6B	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
349314	NM_000283.4(PDE6B):c.699G>A (p.Thr233=)	PDE6B	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
349362	NM_000283.4(PDE6B):c.739T>A (p.Phe247Ile)	PDE6B	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
349363	NM_000283.4(PDE6B):c.789G>A (p.Thr263=)	PDE6B	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
349364	NM_000283.4(PDE6B):c.852+12G>A	PDE6B	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
349369	NM_000283.4(PDE6B):c.1026C>T (p.Ser342=)	PDE6B	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 10 · 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
PDE6B	Strong	Autosomal dominant	congenital stationary night blindness autosomal dominant 2	10

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
PDE6B	Orphanet:714096	Congenital stationary night blindness, Riggs type
PDE6B	Orphanet:791	Retinitis pigmentosa

Cohort genes → proteins

3 cohort genes, 2 distinct canonical proteins.

Evidence partition

Subset	Genes
multi_evidence	3

Cohort genes (full)

Symbol	HGNC	Ensembl	UniProt	Name	Evidence
PDE6B	HGNC:8786	ENSG00000133256	P35913	Rod cGMP-specific 3’,5’-cyclic phosphodiesterase subunit beta	gencc,clinvar
SLC24A1	HGNC:10975	ENSG00000074621	O60721	Sodium/potassium/calcium exchanger 1	clinvar
PDE6B-AS1	HGNC:40438	ENSG00000242686		PDE6B antisense RNA 1	clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
PDE6B	Rod cGMP-specific 3’,5’-cyclic phosphodiesterase subunit beta	Rod-specific cGMP phosphodiesterase that catalyzes the hydrolysis of 3’,5’-cyclic GMP.
SLC24A1	Sodium/potassium/calcium exchanger 1	Calcium, potassium:sodium antiporter that transports 1 Ca(2+) and 1 K(+) in exchange for 4 Na(+).

Protein-family classification

Druggable: 0 · Difficult: 1 · Unknown: 2 · 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	2.8×	0.587
Other/Unknown	2	1.2×	0.587

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
PDE6B	Transcription factor	no		PDEase_catalytic_dom, GAF, HD/PDEase_dom
SLC24A1	Other/Unknown	no		K/Na/Ca-exchanger, SLC24A1, NaCa_Exmemb
PDE6B-AS1	Other/Unknown	no

Expression context

Cohort genes with no expression data: 0.

2 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)	3
unknown	0

Top tissues across cohort

Tissue	Cohort genes
male germ line stem cell (sensu Vertebrata) in testis	2
C1 segment of cervical spinal cord	1
right uterine tube	1
spinal cord	1
endothelial cell	1
sural nerve	1
cortical plate	1
right frontal lobe	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
PDE6B	183	broad	marker	C1 segment of cervical spinal cord, right uterine tube, spinal cord
SLC24A1	220	ubiquitous	marker	endothelial cell, sural nerve, male germ line stem cell (sensu Vertebrata) in testis
PDE6B-AS1	146	tissue_specific	yes	right frontal lobe, cortical plate, male germ line stem cell (sensu Vertebrata) in testis

Protein interactions among cohort

Intra-cohort edges: 1.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
PDE6B	1,375
SLC24A1	1,076
PDE6B-AS1	0

Intra-cohort edges

A	B	Sources
PDE6B	SLC24A1	string_interaction

Structural data

PDB: 0 · AlphaFold-only: 2 · No structure: 1

AlphaFold-only cohort genes (top 30 by pLDDT)

Symbol	UniProt	pLDDT
PDE6B	P35913	89.72
SLC24A1	O60721	55.56

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 14. Enrichment computed across 3 evidence-associated genes (2 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 2 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

Pathway	Cohort genes	Fold	FDR	Sample cohort genes
Activation of the phototransduction cascade	2	951.7×	1e-05	PDE6B, SLC24A1
Defective SLC24A1 causes congenital stationary night blindness 1D (CSNB1D)	1	5710.0×	0.001	SLC24A1
The phototransduction cascade	1	634.4×	0.007	SLC24A1
Sodium/Calcium exchangers	1	519.1×	0.007	SLC24A1
Inactivation, recovery and regulation of the phototransduction cascade	1	158.6×	0.018	PDE6B
Visual phototransduction	1	129.8×	0.018	SLC24A1
SLC transporter disorders	1	102.0×	0.020	SLC24A1
Ca2+ pathway	1	89.2×	0.020	PDE6B
Disorders of transmembrane transporters	1	69.6×	0.021	SLC24A1
R-HSA-425393	1	64.9×	0.021	SLC24A1
Sensory Perception	1	47.6×	0.027	SLC24A1
SLC-mediated transmembrane transport	1	29.6×	0.039	SLC24A1
Transport of small molecules	1	12.6×	0.084	SLC24A1
Disease	1	6.5×	0.147	SLC24A1

GO biological processes by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 2 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

GO term	Cohort genes	Fold	FDR	Sample cohort genes
retinal cell apoptotic process	1	4213.0×	0.002	PDE6B
visual perception	2	79.5×	0.002	PDE6B, SLC24A1
response to light intensity	1	1053.2×	0.005	SLC24A1
phototransduction, visible light	1	648.1×	0.006	PDE6B
long-term synaptic depression	1	443.5×	0.007	SLC24A1
entrainment of circadian clock by photoperiod	1	366.4×	0.007	PDE6B
negative regulation of cAMP/PKA signal transduction	1	300.9×	0.007	PDE6B
calcium ion import across plasma membrane	1	271.8×	0.007	SLC24A1
long-term synaptic potentiation	1	140.4×	0.013	SLC24A1
retina development in camera-type eye	1	127.7×	0.013	PDE6B
calcium ion transmembrane transport	1	105.3×	0.013	SLC24A1
sodium ion transmembrane transport	1	101.5×	0.013	SLC24A1
calcium ion transport	1	90.6×	0.014	SLC24A1
monoatomic ion transport	1	78.0×	0.015	SLC24A1
intracellular calcium ion homeostasis	1	72.6×	0.015	SLC24A1
potassium ion transmembrane transport	1	68.0×	0.015	SLC24A1

Therapeutics

Drug target analysis

Approved (phase 4): 1 · Phase ≥3: 1 · Phased (≥1): 1 · Undrugged: 2

Druggability breadth: 1 of 3 evidence-associated genes (33%) 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
PDE6B	VARDENAFIL

Top cohort targets by molecule count

Symbol	Molecules	Max phase
PDE6B	6	4
SLC24A1	0	0
PDE6B-AS1	0	0

Drugs targeting cohort genes (top 30)

Molecule	Max phase	Targets in cohort
VARDENAFIL	4	PDE6B
SILDENAFIL	4	PDE6B
TADALAFIL	4	PDE6B
DIPYRIDAMOLE	4	PDE6B
ZAPRINAST	2	PDE6B
TBA-7371	2	PDE6B

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 0.

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

Symbol	Assays	Type breakdown
PDE6B	57	Binding:54, ADMET:3

Pharmacogenomics

Cohort genes with a PharmGKB record: 2; with CPIC/DPWG dosing guidelines: 0.

No cohort gene has a CPIC/DPWG genotype-guided dosing guideline (PharmGKB).

Chemical tractability of cohort targets

6 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)
VARDENAFIL	4	PDE6B
SILDENAFIL	4	PDE6B
TADALAFIL	4	PDE6B
DIPYRIDAMOLE	4	PDE6B
ZAPRINAST	2	PDE6B
TBA-7371	2	PDE6B

Druggability pyramid

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

Tier	Definition	Genes	Symbols
A	Approved (phase 4 drug)	1	PDE6B
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	2	SLC24A1, PDE6B-AS1

Undrugged target profiles

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

Symbol	ChEMBL assays	Drugged partners (top 3)
SLC24A1	0	PDE6B
PDE6B-AS1	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 0.