Imerslund-Grasbeck syndrome type 2

Summary

Imerslund-Grasbeck syndrome type 2 (MONDO:0100157) is a disease caused by AMN (GenCC Strong), with 2 cohort genes.

At a glance

• Causal gene: AMN (GenCC Strong)
• Cohort genes: 2
• ClinVar variants: 147

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	Imerslund-Grasbeck syndrome type 2
Mondo ID	MONDO:0100157
OMIM	618882
UMLS	C4016948
MedGen	865385
GARD	0026067
Is cancer (heuristic)	no

Also known as: Imerslund-Grasbeck syndrome 2 · megaloblastic anemia, Norwegian type

Data availability: 147 ClinVar variants · 1 GenCC gene-disease record.

Disease family

Classification path: disease › human disease › disease by etiologic mechanism › disease of genetic or genomic mechanism › hereditary disease › autosomal genetic disease › autosomal recessive disease › Imerslund-Grasbeck syndrome type 2

Related subtypes (218): immunodeficiency-centromeric instability-facial anomalies syndrome, hypercalcemia, infantile, Ochoa syndrome, autosomal recessive Ehlers-Danlos syndrome, vascular type, hydrolethalus syndrome, 3-M syndrome, isolated hyperchlorhidrosis, dacryocystitis-osteopoikilosis syndrome, Hutchinson-Gilford progeria syndrome, achalasia microcephaly syndrome, acrorenal syndrome, autosomal recessive, beta-ketothiolase deficiency, autosomal recessive Alport syndrome, Alstrom syndrome, microphthalmia with limb anomalies, camptodactyly-arthropathy-coxa vara-pericarditis syndrome, Behr syndrome, bifid nose, autosomal recessive, Bloom syndrome, Bowen-Conradi syndrome, camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia, heart defects-limb shortening syndrome, autosomal recessive palmoplantar keratoderma and congenital alopecia, COFS syndrome, craniometaphyseal dysplasia, autosomal recessive, Fraser syndrome, cystic fibrosis, polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly, persistent hyperplastic primary vitreous, autosomal recessive, Donnai-Barrow syndrome, Schöpf-Schulz-Passarge syndrome, cleft lip/palate-ectodermal dysplasia syndrome, Ellis-van Creveld syndrome, Wolcott-Rallison syndrome, autosomal recessive faciodigitogenital syndrome, acromesomelic dysplasia 2B, brittle cornea syndrome, triple-A syndrome, autosomal recessive humeroradial synostosis, multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome, hydrocephalus, nonsyndromic, autosomal recessive 1, autosomal recessive hydrocephalus due to congenital stenosis of aqueduct of Sylvius, hypertelorism, microtia, facial clefting syndrome, hypoparathyroidism-retardation-dysmorphism syndrome, Vici syndrome, Johanson-Blizzard syndrome, autosomal recessive Kenny-Caffey syndrome, Papillon-Lefevre disease, Haim-Munk syndrome, Laurence-Moon syndrome, Donohue syndrome, lipase deficiency, combined, autosomal recessive familial Mediterranean fever, thiamine-responsive megaloblastic anemia syndrome, cartilage-hair hypoplasia, Nijmegen breakage syndrome, pseudo-TORCH syndrome, Galloway-Mowat syndrome, mulibrey nanism, myotonia congenita, autosomal recessive, Schwartz-Jampel syndrome, proteosome-associated autoinflammatory syndrome, Netherton syndrome, Niemann-Pick disease type A, oculodentodigital dysplasia, autosomal recessive, odonto-onycho-dermal dysplasia, autosomal recessive omodysplasia, osteoporosis-pseudoglioma syndrome, Shwachman-Diamond syndrome, phenylketonuria, Bjornstad syndrome, Laron syndrome, autosomal recessive polycystic kidney disease, autosomal recessive inherited pseudoxanthoma elasticum, autosomal recessive multiple pterygium syndrome, rapadilino syndrome, short-rib thoracic dysplasia 9 with or without polydactyly, autosomal recessive Robinow syndrome, Sjogren-Larsson syndrome, scapuloperoneal spinal muscular atrophy, autosomal recessive, spondyloepiphyseal dysplasia tarda, autosomal recessive, inherited threoninemia, Pendred syndrome, autosomal recessive spondylocostal dysostosis, Werner syndrome, ABCD syndrome, Naxos disease, autosomal recessive amelia, human HOXA1 syndromes, sickle cell disease, autosomal recessive proximal renal tubular acidosis, hyper-IgM syndrome type 2, temtamy preaxial brachydactyly syndrome, TH-deficient dopa-responsive dystonia, craniosynostosis syndrome, autosomal recessive, Niemann-Pick disease type B, skin fragility-woolly hair-palmoplantar keratoderma syndrome, CoQ-responsive OXPHOS deficiency, familial adenomatous polyposis 2, Pierson syndrome, palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome, cardiomyopathy-hypotonia-lactic acidosis syndrome, PHARC syndrome, Kahrizi syndrome, cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies, congenital prothrombin deficiency, immunodeficiency 31B, dyskeratosis congenita, autosomal recessive 2, dyskeratosis congenita, autosomal recessive 3, Nestor-Guillermo progeria syndrome, leukoencephalopathy with calcifications and cysts, mitochondrial pyruvate carrier deficiency, branched-chain keto acid dehydrogenase kinase deficiency, dyskeratosis congenita, autosomal recessive 5, hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome, alacrima, achalasia, and intellectual disability syndrome, hyperlipoproteinemia, type 1D, microcephaly and chorioretinopathy 2, congenital stationary night blindness 1G, combined oxidative phosphorylation deficiency 29, hypermanganesemia with dystonia 2, growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy, gnb5-related intellectual disability-cardiac arrhythmia syndrome, autosomal recessive spastic paraplegia type 78, autosomal recessive limb-girdle muscular dystrophy, Bardet-Biedl syndrome, autosomal recessive cerebellar ataxia, neuronopathy, distal hereditary motor, autosomal recessive, UV-sensitive syndrome, Ehlers-Danlos syndrome, kyphoscoliotic type 1, Cockayne syndrome, hyperphenylalaninemia due to tetrahydrobiopterin deficiency, leukoencephalopathy-palmoplantar keratoderma syndrome, autosomal recessive hypohidrotic ectodermal dysplasia, Warburg micro syndrome, autosomal recessive primary microcephaly, autosomal recessive progressive external ophthalmoplegia, Meier-Gorlin syndrome, autosomal recessive sideroblastic anemia, autosomal recessive intermediate Charcot-Marie-Tooth disease, Perrault syndrome, autosomal recessive hypophosphatemic rickets, de Barsy syndrome, leukocyte adhesion deficiency, Senior-Loken syndrome, autosomal recessive spastic ataxia, childhood-onset autosomal recessive myopathy with external ophthalmoplegia, autosomal recessive cerebral atrophy, GM3 synthase deficiency, autosomal recessive distal renal tubular acidosis, pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome, autosomal recessive brachyolmia, Aicardi-Goutieres syndrome, homocystinuria without methylmalonic aciduria, Niemann-Pick disease type C, nephronophthisis, autosomal recessive osteopetrosis, peroxisome biogenesis disorder, congenital non-bullous ichthyosiform erythroderma, Seckel syndrome, Usher syndrome, autosomal recessive cutis laxa type 1, autosomal recessive cutis laxa type 2, hearing loss, autosomal recessive, microcephaly, growth restriction, and increased sister chromatid exchange 2, encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1, congenital vertebral-cardiac-renal anomalies syndrome, hair defect with photosensitivity and intellectual disability syndrome, autosomal recessive severe congenital neutropenia, severe combined immunodeficiency due to CARMIL2 deficiency, extraoral halitosis due to methanethiol oxidase deficiency, neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities, mitochondrial complex 2 deficiency, nuclear type 3, mitochondrial complex 2 deficiency, nuclear type 4, mismatch repair cancer syndrome, spondyloepimetaphyseal dysplasia with joint laxity, type 3, Kilquist syndrome, Duane anomaly-myopathy-scoliosis syndrome, autosomal recessive axonal charcot-marie-tooth disease due to copper metabolism defect, immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome, optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome, congenital myopathy with reduced type 2 muscle fibers, NAD(P)HX dehydratase deficiency, autosomal recessive ocular albinism, ichthyosis linearis circumflexa, eosinophil peroxidase deficiency, hyperphenylalaninemia due to DNAJC12 deficiency, autosomal recessive epidermolytic ichthyosis, Ehlers-Danlos syndrome, classic-like, 2, joint laxity, short stature, and myopia, HELIX syndrome, auditory neuropathy-optic atrophy syndrome, glycosylphosphatidylinositol biosynthesis defect 15, neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures, SCN4A-related myopathy, autosomal recessive, Uner Tan Syndrome, nephropathic cystinosis, Imerslund-Grasbeck syndrome type 1, permanent neonatal diabetes mellitus 1, growth hormone insensitivity with immune dysregulation 1, autosomal recessive, Rajab interstitial lung disease with brain calcifications 1, Roberts-SC phocomelia syndrome, neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities, RPE65-related recessive retinopathy, GUCY2D-related recessive retinopathy, autosomal recessive titinopathy, intellectual disability, autosomal recessive, ALPL-related autosomal recessive hypophosphatasia, spastic paraplegia 18b, autosomal recessive, CEP164-related ciliopathy, RP1-related recessive retinopathy, pseudohypoaldosteronism, type IB2, autosomal recessive, pseudohypoaldosteronism, type IB3, autosomal recessive, spastic paraplegia 30B, autosomal recessive, cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy 1, brain small vessel disease 2B, autosomal recessive, IMPG1-related recessive retinopathy, PROM1-related recessive retinopathy

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

147 retrieved; paginated sample, class counts are floors:

86 uncertain significance, 19 likely pathogenic, 14 likely benign, 11 benign/likely benign, 9 pathogenic, 4 benign, 3 conflicting classifications of pathogenicity, 1 pathogenic/likely pathogenic

ClinVar	Variant (HGVS)	Gene	Classification	Review
1323130	NM_030943.4(AMN):c.297_299delinsAG (p.Glu100fs)	AMN	Pathogenic	criteria provided, single submitter
1879782	NM_030943.4(AMN):c.493dup (p.Ser165fs)	AMN	Pathogenic	criteria provided, single submitter
3066362	NM_030943.4(AMN):c.682C>T (p.Gln228Ter)	AMN	Pathogenic	criteria provided, single submitter
56749	NM_030943.4(AMN):c.14del (p.Gly5fs)	AMN	Pathogenic	criteria provided, multiple submitters, no conflicts
56750	NM_030943.4(AMN):c.208-1G>C	AMN	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
56751	NM_030943.4(AMN):c.208-2A>G	AMN	Pathogenic	criteria provided, multiple submitters, no conflicts
873123	NM_030943.4(AMN):c.1041_1042delinsCTC (p.Glu348fs)	AMN	Pathogenic	no assertion criteria provided
873124	NM_030943.4(AMN):c.1006+11_1008del	AMN	Pathogenic	no assertion criteria provided
873125	NM_030943.4(AMN):c.35del (p.Gln12fs)	AMN	Pathogenic	criteria provided, single submitter
873126	NM_030943.4(AMN):c.206T>A (p.Met69Lys)	AMN	Pathogenic	no assertion criteria provided
2757462	NM_030943.4(AMN):c.296-1G>A	AMN	Likely pathogenic	criteria provided, multiple submitters, no conflicts
2893181	NM_030943.4(AMN):c.138_162+20del	AMN	Likely pathogenic	criteria provided, multiple submitters, no conflicts
2971387	NM_030943.4(AMN):c.44-1G>A	AMN	Likely pathogenic	criteria provided, multiple submitters, no conflicts
3361994	NM_030943.4(AMN):c.1041_1044dup (p.Ser349fs)	AMN	Likely pathogenic	criteria provided, multiple submitters, no conflicts
3393160	NM_030943.4(AMN):c.43+5G>A	AMN	Likely pathogenic	criteria provided, single submitter
3576365	NM_030943.4(AMN):c.56_57dup (p.Val20fs)	AMN	Likely pathogenic	criteria provided, single submitter
3576375	NM_030943.4(AMN):c.208-13_211del	AMN	Likely pathogenic	criteria provided, multiple submitters, no conflicts
3576376	NM_030943.4(AMN):c.223_226dup (p.Glu76fs)	AMN	Likely pathogenic	criteria provided, single submitter
3576383	NM_030943.4(AMN):c.509del (p.Gly170fs)	AMN	Likely pathogenic	criteria provided, single submitter
3576393	NM_030943.4(AMN):c.707del (p.Gln236fs)	AMN	Likely pathogenic	criteria provided, single submitter
3576395	NM_030943.4(AMN):c.736C>T (p.Gln246Ter)	AMN	Likely pathogenic	criteria provided, single submitter
3576411	NM_030943.4(AMN):c.1134_1147del (p.Pro381fs)	AMN	Likely pathogenic	criteria provided, single submitter
3775213	NM_030943.4(AMN):c.71G>A (p.Trp24Ter)	AMN	Likely pathogenic	criteria provided, single submitter
4279616	NM_030943.4(AMN):c.125del (p.Pro42fs)	AMN	Likely pathogenic	criteria provided, single submitter
4770	NM_030943.4(AMN):c.122C>T (p.Thr41Ile)	AMN	Likely pathogenic	criteria provided, multiple submitters, no conflicts
4845923	NM_030943.4(AMN):c.295+1G>A	AMN	Likely pathogenic	criteria provided, single submitter
532205	NM_030943.4(AMN):c.760+1G>A	AMN	Likely pathogenic	criteria provided, multiple submitters, no conflicts
567966	NM_030943.4(AMN):c.844-1G>C	AMN	Likely pathogenic	criteria provided, multiple submitters, no conflicts
3576408	NM_030943.4(AMN):c.1093_1100dup (p.Ala368fs)	LOC130056554	Likely pathogenic	criteria provided, single submitter
2042982	NM_030943.4(AMN):c.892T>C (p.Ser298Pro)	AMN	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 14 · Orphanet: 5 · 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
ABCD1	Strong	Autosomal recessive	Imerslund-Grasbeck syndrome type 1	11
AMN	Strong	Autosomal recessive	Imerslund-Grasbeck syndrome type 1	3

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
AMN	Orphanet:35858	Imerslund-Gräsbeck syndrome
ABCD1	Orphanet:139396	X-linked cerebral adrenoleukodystrophy
ABCD1	Orphanet:139399	Adrenomyeloneuropathy
ABCD1	Orphanet:369942	CADDS
ABCD1	Orphanet:388	Hirschsprung disease

Cohort genes → proteins

2 cohort genes, 2 distinct canonical proteins.

Evidence partition

Subset	Genes
multi_evidence	2

Cohort genes (full)

Symbol	HGNC	Ensembl	UniProt	Name	Evidence
AMN	HGNC:14604	ENSG00000166126	Q9BXJ7	Protein amnionless	gencc,clinvar
ABCD1	HGNC:61	ENSG00000101986	P33897	ATP-binding cassette sub-family D member 1	gencc,clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
AMN	Protein amnionless	Membrane-bound component of the endocytic receptor formed by AMN and CUBN.
ABCD1	ATP-binding cassette sub-family D member 1	ATP-dependent transporter of the ATP-binding cassette (ABC) family involved in the transport of very long chain fatty acid (VLCFA)-CoA from the cytosol to the peroxisome lumen.

Protein-family classification

Druggable: 1 · Difficult: 0 · Unknown: 1 · Druggable fraction: 0.5

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
Transporter	1	38.9×	0.051
Other/Unknown	1	0.9×	0.805

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
AMN	Other/Unknown	no		AMN
ABCD1	Transporter	yes	7.6.2.4	ABC_transporter-like_ATP-bd, AAA+_ATPase, FA_transporter

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)	2
unknown	0

Top tissues across cohort

Tissue	Cohort genes
duodenum	1
jejunal mucosa	1
mucosa of transverse colon	1
ileal mucosa	1
left adrenal gland	1
left adrenal gland cortex	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
AMN	223	broad	marker	mucosa of transverse colon, jejunal mucosa, duodenum
ABCD1	201	ubiquitous	marker	ileal mucosa, left adrenal gland cortex, left adrenal gland

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
ABCD1	1,181
AMN	414

Structural data

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

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
ABCD1	P33897	14
AMN	Q9BXJ7	1

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 29. Enrichment computed across 2 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
Defective ABCD1 causes ALD	1	2855.0×	0.005	ABCD1
Defective AMN causes MGA1	1	1903.3×	0.005	AMN
Defective CUBN causes MGA1	1	1903.3×	0.005	AMN
HDL clearance	1	1142.0×	0.006	AMN
alpha-linolenic (omega3) and linoleic (omega6) acid metabolism	1	951.7×	0.006	ABCD1
Linoleic acid (LA) metabolism	1	571.0×	0.006	ABCD1
Uptake of dietary cobalamins into enterocytes	1	571.0×	0.006	AMN
Transport of small molecules	2	25.1×	0.006	AMN, ABCD1
Beta-oxidation of very long chain fatty acids	1	439.2×	0.006	ABCD1
Defects in cobalamin (B12) metabolism	1	407.9×	0.006	AMN
alpha-linolenic acid (ALA) metabolism	1	356.9×	0.006	ABCD1
Peroxisomal lipid metabolism	1	335.9×	0.006	ABCD1
Cobalamin (Cbl, vitamin B12) transport and metabolism	1	317.2×	0.006	AMN
ABC transporters in lipid homeostasis	1	300.5×	0.006	ABCD1
Defects in vitamin and cofactor metabolism	1	300.5×	0.006	AMN
Class I peroxisomal membrane protein import	1	259.6×	0.007	ABCD1
Plasma lipoprotein clearance	1	237.9×	0.007	AMN
ABC transporter disorders	1	219.6×	0.007	ABCD1
Disease	2	13.1×	0.009	AMN, ABCD1
Metabolism	2	11.6×	0.011	AMN, ABCD1
Plasma lipoprotein assembly, remodeling, and clearance	1	114.2×	0.012	AMN
Protein localization	1	95.2×	0.014	ABCD1
Metabolism of water-soluble vitamins and cofactors	1	90.6×	0.014	AMN
Disorders of transmembrane transporters	1	69.6×	0.017	ABCD1
Fatty acid metabolism	1	65.6×	0.018	ABCD1
ABC-family protein mediated transport	1	60.7×	0.018	ABCD1
Metabolism of vitamins and cofactors	1	58.3×	0.018	AMN
Diseases of metabolism	1	40.2×	0.026	AMN
Metabolism of lipids	1	15.8×	0.062	ABCD1

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
peroxisomal membrane transport	1	4213.0×	0.002	ABCD1
very long-chain fatty-acyl-CoA catabolic process	1	4213.0×	0.002	ABCD1
renal protein absorption	1	2808.7×	0.002	AMN
positive regulation of unsaturated fatty acid biosynthetic process	1	2808.7×	0.002	ABCD1
sterol homeostasis	1	2106.5×	0.002	ABCD1
long-chain fatty acid import into peroxisome	1	1685.2×	0.002	ABCD1
regulation of fatty acid beta-oxidation	1	1404.3×	0.002	ABCD1
long-chain fatty acid catabolic process	1	1404.3×	0.002	ABCD1
myelin maintenance	1	1404.3×	0.002	ABCD1
regulation of mitochondrial depolarization	1	1404.3×	0.002	ABCD1
fatty acid elongation	1	1203.7×	0.002	ABCD1
very long-chain fatty acid catabolic process	1	1203.7×	0.002	ABCD1
cobalamin transport	1	936.2×	0.003	AMN
cobalamin metabolic process	1	766.0×	0.003	AMN
positive regulation of fatty acid beta-oxidation	1	766.0×	0.003	ABCD1
fatty acid derivative biosynthetic process	1	766.0×	0.003	ABCD1
regulation of cellular response to oxidative stress	1	648.1×	0.003	ABCD1
regulation of oxidative phosphorylation	1	601.9×	0.003	ABCD1
neuron projection maintenance	1	561.7×	0.003	ABCD1
negative regulation of reactive oxygen species biosynthetic process	1	495.6×	0.003	ABCD1
fatty acid homeostasis	1	468.1×	0.003	ABCD1
alpha-linolenic acid metabolic process	1	443.5×	0.003	ABCD1
peroxisome organization	1	401.2×	0.003	ABCD1
very long-chain fatty acid metabolic process	1	383.0×	0.003	ABCD1
linoleic acid metabolic process	1	351.1×	0.004	ABCD1
unsaturated fatty acid biosynthetic process	1	324.1×	0.004	ABCD1
Golgi to plasma membrane protein transport	1	263.3×	0.004	AMN
long-chain fatty acid biosynthetic process	1	221.7×	0.005	ABCD1
negative regulation of cytokine production involved in inflammatory response	1	210.7×	0.005	ABCD1
fatty acid beta-oxidation	1	187.2×	0.006	ABCD1

Therapeutics

Drug target analysis

Approved (phase 4): 0 · Phase ≥3: 0 · Phased (≥1): 0 · Undrugged: 2

Druggability breadth: 0 of 2 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
AMN	0	0
ABCD1	0	0

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 1.

Cohort enzymes (BRENDA EC)

Symbol	EC numbers	Names
ABCD1	7.6.2.4	ABC-type fatty-acyl-CoA transporter

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

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	ABCD1
D	Druggable family + AlphaFold only, no drug	0
E	Difficult family or no structure, no drug	1	AMN

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)
AMN	0	—
ABCD1	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 0.