Type 1 diabetes mellitus 17

Summary

Type 1 diabetes mellitus 17 (MONDO:0011302) is a disease with 1 cohort gene.

At a glance

• Cohort genes: 1
• ClinVar variants: 1

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	type 1 diabetes mellitus 17
Mondo ID	MONDO:0011302
MeSH	C566395
OMIM	603266
DOID	DOID:0110754
UMLS	C1864068
MedGen	351036
Is cancer (heuristic)	no

Also known as: diabetes mellitus, insulin-dependent, 17 · IDDM17 · insulin-dependent diabetes mellitus 17

Data availability: 1 ClinVar variant.

Disease family

Classification path: disease susceptibility › inherited disease susceptibility › diabetes mellitus, insulin-dependent, X-linked, susceptibility to › type 1 diabetes mellitus 17

Related subtypes (20): type 1 diabetes mellitus 2, type 1 diabetes mellitus 1, type 1 diabetes mellitus 3, type 1 diabetes mellitus 4, type 1 diabetes mellitus 5, type 1 diabetes mellitus 7, type 1 diabetes mellitus 8, type 1 diabetes mellitus 11, type 1 diabetes mellitus 13, type 1 diabetes mellitus 12, type 1 diabetes mellitus 15, type 1 diabetes mellitus 6, type 1 diabetes mellitus 10, type 1 diabetes mellitus 18, type 1 diabetes mellitus 19, type 1 diabetes mellitus 20, type 1 diabetes mellitus 21, type 1 diabetes mellitus 22, type 1 diabetes mellitus 23, type 1 diabetes mellitus 24

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

1 retrieved; paginated sample, class counts are floors:

1 uncertain significance

ClinVar	Variant (HGVS)	Gene	Classification	Review
1185664	NM_002473.6(MYH9):c.5184G>T (p.Glu1728Asp)	MYH9	Uncertain significance	no assertion criteria provided

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 0 · Orphanet: 3 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
MYH9	Orphanet:182050	MYH9-related syndromic thrombocytopenia
MYH9	Orphanet:477742	Nodular fasciitis
MYH9	Orphanet:90635	Rare autosomal dominant non-syndromic sensorineural deafness type DFNA

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
MYH9	HGNC:7579	ENSG00000100345	P35579	Myosin-9	clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
MYH9	Myosin-9	Cellular myosin that appears to play a role in cytokinesis, cell shape, and specialized functions such as secretion and capping.

Protein-family classification

Druggable: 0 · Difficult: 1 · Unknown: 0 · 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
Scaffold/PPI	1	17.3×	0.058

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
MYH9	Scaffold/PPI	no		IQ_motif_EF-hand-BS, Myosin_head_motor_dom-like, Myosin_tail

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
ascending aorta	1
stromal cell of endometrium	1
thoracic aorta	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
MYH9	279	ubiquitous	marker	stromal cell of endometrium, ascending aorta, thoracic aorta

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
MYH9	5,533

Structural data

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

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
MYH9	P35579	8

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 40. 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
CD163 mediating an anti-inflammatory response	1	1142.0×	0.009	MYH9
Sema4D in semaphorin signaling	1	671.8×	0.009	MYH9
RHO GTPases activate CIT	1	601.0×	0.009	MYH9
RHO GTPases Activate ROCKs	1	601.0×	0.009	MYH9
Sema4D induced cell migration and growth-cone collapse	1	571.0×	0.009	MYH9
RHO GTPases activate PAKs	1	543.8×	0.009	MYH9
Semaphorin interactions	1	393.8×	0.009	MYH9
Anti-inflammatory response favouring Leishmania parasite infection	1	393.8×	0.009	MYH9
Leishmania parasite growth and survival	1	393.8×	0.009	MYH9
EPHA-mediated growth cone collapse	1	380.7×	0.009	MYH9
Parasite infection	1	346.1×	0.009	MYH9
Leishmania phagocytosis	1	346.1×	0.009	MYH9
RHO GTPases activate PKNs	1	317.2×	0.009	MYH9
Sensory processing of sound	1	308.6×	0.009	MYH9
Fcgamma receptor (FCGR) dependent phagocytosis	1	278.5×	0.009	MYH9
Signaling by ALK in cancer	1	271.9×	0.009	MYH9
Sensory processing of sound by outer hair cells of the cochlea	1	203.9×	0.011	MYH9
FCGR3A-mediated phagocytosis	1	187.2×	0.011	MYH9
Regulation of actin dynamics for phagocytic cup formation	1	184.2×	0.011	MYH9
EPH-Ephrin signaling	1	165.5×	0.011	MYH9
Leishmania infection	1	163.1×	0.011	MYH9
Sensory processing of sound by inner hair cells of the cochlea	1	163.1×	0.011	MYH9
Parasitic Infection Pathways	1	163.1×	0.011	MYH9
Translocation of SLC2A4 (GLUT4) to the plasma membrane	1	154.3×	0.011	MYH9
Signaling by ALK fusions and activated point mutants	1	150.3×	0.011	MYH9
Sensory Perception	1	95.2×	0.016	MYH9
RHO GTPase Effectors	1	68.0×	0.022	MYH9
Diseases of signal transduction by growth factor receptors and second messengers	1	56.8×	0.025	MYH9
Axon guidance	1	45.1×	0.031	MYH9
Nervous system development	1	42.9×	0.031	MYH9

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
uropod organization	1	8426.0×	9e-04	MYH9
cortical granule exocytosis	1	8426.0×	9e-04	MYH9
negative regulation of actin filament severing	1	8426.0×	9e-04	MYH9
positive regulation of protein processing in phagocytic vesicle	1	8426.0×	9e-04	MYH9
cytokinetic process	1	5617.3×	9e-04	MYH9
regulation of plasma membrane repair	1	5617.3×	9e-04	MYH9
establishment of meiotic spindle localization	1	4213.0×	0.001	MYH9
cytoplasmic actin-based contraction involved in cell motility	1	3370.4×	0.001	MYH9
meiotic spindle organization	1	2407.4×	0.001	MYH9
establishment of T cell polarity	1	1872.4×	0.002	MYH9
blood vessel endothelial cell migration	1	1404.3×	0.002	MYH9
regulated exocytosis	1	887.0×	0.003	MYH9
actin filament-based movement	1	802.5×	0.003	MYH9
monocyte differentiation	1	802.5×	0.003	MYH9
platelet formation	1	702.2×	0.003	MYH9
phagocytosis, engulfment	1	674.1×	0.003	MYH9
membrane protein ectodomain proteolysis	1	648.1×	0.003	MYH9
leukocyte migration	1	624.1×	0.003	MYH9
myoblast fusion	1	601.9×	0.003	MYH9
plasma membrane repair	1	581.1×	0.003	MYH9
actomyosin structure organization	1	561.7×	0.003	MYH9
lysosome localization	1	526.6×	0.003	MYH9
endodermal cell differentiation	1	495.6×	0.003	MYH9
symbiont entry into host cell	1	401.2×	0.003	MYH9
platelet aggregation	1	337.0×	0.004	MYH9
integrin-mediated signaling pathway	1	160.5×	0.007	MYH9
regulation of cell shape	1	123.0×	0.009	MYH9
actin cytoskeleton organization	1	79.1×	0.014	MYH9
in utero embryonic development	1	72.0×	0.015	MYH9
angiogenesis	1	62.4×	0.017	MYH9

Therapeutics

Drug target analysis

Approved (phase 4): 0 · Phase ≥3: 0 · 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).

Top cohort targets by molecule count

Symbol	Molecules	Max phase
MYH9	1	2

Drugs targeting cohort genes (top 30)

Molecule	Max phase	Targets in cohort
MOLIBRESIB	2	MYH9

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 0.

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

Symbol	Assays	Type breakdown
MYH9	10	Binding:10

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

1 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)
MOLIBRESIB	2	MYH9

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	1	MYH9
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.