IGF1

Summary

IGF1 (insulin like growth factor 1, HGNC:5464) is a protein-coding gene on chromosome 12q23.2, encoding Insulin-like growth factor 1 (P05019). The insulin-like growth factors, isolated from plasma, are structurally and functionally related to insulin but have a much higher growth-promoting activity.

The protein encoded by this gene is similar to insulin in function and structure and is a member of a family of proteins involved in mediating growth and development. The encoded protein is processed from a precursor, bound by a specific receptor, and secreted. Defects in this gene are a cause of insulin-like growth factor I deficiency. Alternative splicing results in multiple transcript variants encoding different isoforms that may undergo similar processing to generate mature protein.

Source: NCBI Gene 3479 — RefSeq curated summary.

At a glance

• Gene–disease (curated): growth delay due to insulin-like growth factor type 1 deficiency (Definitive, GenCC)
• GWAS associations: 38
• Clinical variants (ClinVar): 135 total — 8 pathogenic, 4 likely-pathogenic
• Phenotypes (HPO): 48
• Druggable target: yes
• MANE Select transcript: NM_000618

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:5464
Approved symbol	IGF1
Name	insulin like growth factor 1
Location	12q23.2
Locus type	gene with protein product
Status	Approved
Aliases	IGF1A, IGFI, IGF-I, IGF
Ensembl gene	ENSG00000017427
Ensembl biotype	protein_coding
OMIM	147440
Entrez	3479

Gene structure

Transcript identifiers

Ensembl transcripts: 11 — 10 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000307046, ENST00000337514, ENST00000392904, ENST00000392905, ENST00000424202, ENST00000481539, ENST00000644491, ENST00000906561, ENST00000906562, ENST00000906563, ENST00000906564

RefSeq mRNA: 6 — MANE Select: NM_000618 NM_000618, NM_001111283, NM_001111284, NM_001111285, NM_001414005, NM_001414007

CCDS: CCDS44960, CCDS44961, CCDS9091

Canonical transcript exons

ENST00000337514 — 4 exons

Exon	Start	End
ENSE00000498265	102475643	102475799
ENSE00001363278	102419509	102419690
ENSE00001681947	102395874	102402566
ENSE00003900295	102480319	102480563

Expression profiles

Bgee: expression breadth ubiquitous, 258 present calls, max score 98.86.

FANTOM5 (CAGE): breadth broad, TPM avg 8.6351 / max 960.3612, expressed in 655 samples.

FANTOM5 promoters (12 alternative TSS)

Promoter ID	TPM avg	Samples expressed
132945	5.2392	460
132944	0.7471	237
132938	0.7237	206
132943	0.4776	196
132942	0.4400	193
132946	0.3707	134
132941	0.3145	160
132947	0.1729	77
132948	0.0527	17
132940	0.0451	6

Top tissues by expression

288 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
pericardium	UBERON:0002407	98.86	gold quality
cauda epididymis	UBERON:0004360	97.85	gold quality
tendon of biceps brachii	UBERON:0008188	97.42	gold quality
mucosa of stomach	UBERON:0001199	96.57	gold quality
superficial temporal artery	UBERON:0001614	96.11	gold quality
seminal vesicle	UBERON:0000998	95.72	gold quality
urethra	UBERON:0000057	95.56	gold quality
caput epididymis	UBERON:0004358	95.43	gold quality
corpus epididymis	UBERON:0004359	94.88	gold quality
endometrium	UBERON:0001295	94.83	gold quality
decidua	UBERON:0002450	94.54	gold quality
mammary duct	UBERON:0001765	94.43	gold quality
mammalian vulva	UBERON:0000997	94.33	gold quality
nipple	UBERON:0002030	94.18	gold quality
thoracic mammary gland	UBERON:0005200	93.89	gold quality
mammary gland	UBERON:0001911	93.82	gold quality
epithelium of mammary gland	UBERON:0003244	93.37	gold quality
diaphragm	UBERON:0001103	92.99	gold quality
calcaneal tendon	UBERON:0003701	92.98	gold quality
tendon	UBERON:0000043	92.94	gold quality
parietal pleura	UBERON:0002400	92.77	gold quality
liver	UBERON:0002107	92.33	gold quality
synovial joint	UBERON:0002217	92.25	gold quality
uterus	UBERON:0000995	92.05	gold quality
myometrium	UBERON:0001296	92.04	gold quality
vena cava	UBERON:0004087	91.90	gold quality
penis	UBERON:0000989	91.54	gold quality
adipose tissue	UBERON:0001013	91.31	gold quality
smooth muscle tissue	UBERON:0001135	91.29	gold quality
right lobe of liver	UBERON:0001114	91.22	gold quality

Single-cell (SCXA)

Detected in 14 experiment(s), a significant marker in 14.

Experiment	Marker?	Max mean expression
E-MTAB-10662	yes	1577.24
E-MTAB-10287	yes	1349.01
E-CURD-126	yes	990.01
E-MTAB-11121	yes	715.54
E-HCAD-1	yes	77.10
E-MTAB-3929	yes	75.86
E-MTAB-7316	yes	44.23
E-HCAD-10	yes	32.08
E-ANND-3	yes	25.90
E-GEOD-137537	yes	16.14
E-CURD-114	yes	11.59
E-CURD-119	yes	9.21
E-MTAB-8410	yes	9.07
E-GEOD-130148	yes	4.63

Regulation

Is transcription factor: yes

Downstream targets (CollecTRI)

4 targets.

Target	Regulation
CILP	Repression
FBN1	Activation
MMP13	Repression
NGFR	Activation

Upstream regulators (CollecTRI, top): AHR, AP1, AR, ARID4B, ARNT, ARX, BCL6, BRCA1, CEBPA, CEBPB, CEBPD, CTNNB1, DNMT1, EBF3, EGR2, EP300, ERG, ESR1, ESR2, ETS2, EZH2, FLI1, FOS, FOXA2, FOXA3, FOXC1, FOXM1, GATA4, HDAC2, HIF1A, HMGA1, HMGA2, HNF1A, HNF1B, HNF4A, HOXA9, HTATIP2, IRF8, ITGAX, JUN

miRNA regulators (miRDB)

308 targeting IGF1, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-6867-5P	100.00	82.21	3464
HSA-MIR-1252-5P	100.00	69.80	2774
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-29A-3P	100.00	73.11	1835
HSA-MIR-29B-3P	100.00	73.18	1833
HSA-MIR-29C-3P	100.00	73.15	1833
HSA-MIR-6873-3P	100.00	71.42	2626
HSA-MIR-6748-5P	100.00	65.81	1057
HSA-MIR-6758-5P	100.00	66.21	1470
HSA-MIR-6856-5P	100.00	65.47	1298
HSA-MIR-1193	100.00	65.93	529
HSA-MIR-340-5P	100.00	72.50	4437
HSA-MIR-4795-3P	100.00	74.62	4024
HSA-MIR-3646	100.00	73.56	5283
HSA-MIR-6833-3P	100.00	70.63	3197
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-6759-5P	99.99	66.54	785
HSA-MIR-4500	99.99	72.72	2367
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-4534	99.99	66.58	1907
HSA-MIR-8068	99.98	73.85	2376
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-19A-3P	99.98	75.33	2762
HSA-MIR-19B-3P	99.98	75.44	2754
HSA-LET-7A-5P	99.98	72.29	1790
HSA-LET-7B-5P	99.98	72.31	1790

Literature-anchored findings (GeneRIF, showing 40)

• transcription is regulated by the PAX3-FKHR oncoprotein (PMID:11735247)
• Hypothyroidism is associated with significant reductions of IGF-1 (PMID:11762714)
• induces Pin1 expression in promoting cell cycle S-phase entry (PMID:11787050)
• IGF-I level was significantly lower in the CDGP (constitutional delay of growth and puberty)group (PMID:11822578)
• Protein kinase C-dependent, CCAAT/enhancer-binding protein beta–mediates expression of IGF-I (PMID:11825899)
• Increases in free, unbound insulin-like growth factor I enhance insulin responsiveness in human hepatoma G2 cells in culture. (PMID:11834727)
• lower IFG-I concentrations correlate with higher bone resorption markers values and decreased mineralisation (PMID:11858767)
• Functional insulin-like growth factor-1/insulin-like growth factor-1 receptor-mediated circuit in human and murine thymic epithelial cells. (PMID:11867942)
• role for IGF-I in the regulation of the MDM2/p53/p21 signaling pathway during DNA damage (PMID:11877395)
• Insulin-like growth factor-I protects neuroblastoma against starvation-induced apoptosis and is associated with increased Bcl-2 expression. (PMID:11877670)
• study indicated a negative correlation between IGF-I levels and visceral fat at baseline as well as an association between the reduction in visceral fat and increase in IGF-I levels after an exercise intervention (PMID:11896491)
• IGF-I may promote granulocyte functions by increasing granulocyte longevity (PMID:11897674)
• assess the levels of IGF1 during pregnancy and to determine whether or not low concentrations are associated with fetal untrauterine growth retardation (PMID:11903419)
• The insulin-like growth factor-I gene cytosine-adenine polymorphism relates with circulating insulin-like growth factor-I levels and bone mineral density at the lumbar spine and proximal femur. (PMID:11904589)
• IGF-1 up-regulates K+ channels via PI3-kinase, PDK1 and SGK1. (PMID:11907830)
• is essential for normal growth and mutations are associated with extreme growth retardation in mice and humans and the relative contributions of tissue vs. endocrine (hepatic) IGF-I to the regulation of growth has been a fundamental question (PMID:11909998)
• Reduced serum insulin-like growth factor-1 (IGF-1) and IGF-binding protein-3 levels in adults with inflammatory bowel disease. (PMID:11914023)
• Total and free insulin-like growth factor I, insulin-like growth factor binding protein 3 and acid-labile subunit reflect clinical activity in acromegaly. (PMID:11914026)
• plays an important role in the genetic and perhaps nutritional determination of adult stature in humans (PMID:11924928)
• In demonstrating transduction of fascin spike assembly by activation of a peptide growth factor receptor, these novel data reveal a wide role for fascin spikes in cell motility (PMID:11943599)
• Relation between insulin-like growth factor-1 and insulin resistance in patients with acute stroke (PMID:11953210)
• RACK1 is an insulin-like growth factor 1 (IGF-1) receptor-interacting protein that can regulate IGF-1-mediated Akt activation and protection from cell death. (PMID:11964397)
• Extravillous cytotrophoblast differentiation requires at least two distinct steps: a column forms as a result of attachment to extracellular matrix, then IGF-I from placental mesenchymal cells stimulates progression to a fully migratory phenotype. (PMID:11972897)
• IGF-1 inscribes a gene expression profile relevant to cancer progression (PMID:11988840)
• cDNA probes were used to analyze the gene expression of IGF-I in luteinized granulosa cells from different-sized follicles after ovarian hyperstimulation. (PMID:12005306)
• determination of blood levels in adult patients with severe liver disease before and after orthotopic liver transplantation (PMID:12006706)
• IGF-I protects the cells from apoptosis by blocking the activation of caspases, which may be responsible for the loss of FAK and Akt. (PMID:12011046)
• Insulin-like growth factor I, IGF-binding protein 3, and lung cancer risk in a prospective study of men in China. (PMID:12011225)
• results suggest that IGF-1/PI-3 kinase inhibited C2-ceramide-induced apoptosis due to relieving oxidative damage, which resulted from the inhibition of catalase by activated caspase-3 (PMID:12032677)
• Polymorphism in the IGF-I gene: clinical relevance for short children born small for gestational age (PMID:12050240)
• insulin growth factor 1 via activation of the serine/threonine kinase Akt/PKB is able to inhibit neuronal death specifically induced by mutant huntingtin containing an expanded polyglutamine stretch (PMID:12062094)
• IGF1 mediated AKT activation delays radiation-induced apoptosis, allowing the DNA repair mechanism more time to remove cyclobutane thymine dimers. (PMID:12070137)
• A putative functional polymorphism associated with NIDDM, adult height, glucose tolerance and fetal growth (PMID:12086966)
• MGF inhibits terminal differentiation and increase cell proliferation of myoblast (mechano growth factor) (PMID:12095637)
• Elevated levels of IGF-1 is associated with pleural effusions of solid tumors (PMID:12102164)
• is positively associated with benign prostatic hyperplasia risk (PMID:12111701)
• Insulin-like growth factor-I (IGF-I) and IGF binding protein-3 as predictors of advanced-stage prostate cancer. (PMID:12122101)
• Autocrine production of IGF-I and IGF-II may via IGF-IR play a significant role in the growth and megakaryocytic differentiation of K562 cells. (PMID:12127559)
• circulating levels of IGF-1 and IGFBP-1 are significantly related to the extent of myocardial injury in patients with hypertrophic cardiomyopathy. (PMID:12135130)
• structural origins of the functional divergence with insulin (PMID:12135360)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	igf1	ENSDARG00000094132
mus_musculus	Igf1	ENSMUSG00000020053
rattus_norvegicus	Igf1	ENSRNOG00000004517

Paralogs (2): IGF2 (ENSG00000167244), INS (ENSG00000254647)

Protein

Protein identifiers

Insulin-like growth factor 1 — P05019 (reviewed: P05019)

Alternative names: Insulin-like growth factor I, Mechano growth factor, Somatomedin-C

All UniProt accessions (2): P05019, Q5U743

UniProt curated annotations — full annotation on UniProt →

Function. The insulin-like growth factors, isolated from plasma, are structurally and functionally related to insulin but have a much higher growth-promoting activity. May be a physiological regulator of [1-14C]-2-deoxy-D-glucose (2DG) transport and glycogen synthesis in osteoblasts. Stimulates glucose transport in bone-derived osteoblastic (PyMS) cells and is effective at much lower concentrations than insulin, not only regarding glycogen and DNA synthesis but also with regard to enhancing glucose uptake. May play a role in synapse maturation. Ca(2+)-dependent exocytosis of IGF1 is required for sensory perception of smell in the olfactory bulb. Acts as a ligand for IGF1R. Binds to the alpha subunit of IGF1R, leading to the activation of the intrinsic tyrosine kinase activity which autophosphorylates tyrosine residues in the beta subunit thus initiating a cascade of down-stream signaling events leading to activation of the PI3K-AKT/PKB and the Ras-MAPK pathways. Binds to integrins ITGAV:ITGB3 and ITGA6:ITGB4. Its binding to integrins and subsequent ternary complex formation with integrins and IGFR1 are essential for IGF1 signaling. Induces the phosphorylation and activation of IGFR1, MAPK3/ERK1, MAPK1/ERK2 and AKT1. As part of the MAPK/ERK signaling pathway, acts as a negative regulator of apoptosis in cardiomyocytes via promotion of STUB1/CHIP-mediated ubiquitination and degradation of ICER-type isoforms of CREM.

Subunit / interactions. Forms a ternary complex with IGFR1 and ITGAV:ITGB3. Forms a ternary complex with IGFR1 and ITGA6:ITGB4. Interacts with SH2D3C isoform 2. Forms a ternary complex with IGFBP3 and ALS.

Subcellular location. Secreted.

Disease relevance. Insulin-like growth factor I deficiency (IGF1D) [MIM:608747] An autosomal recessive disorder characterized by growth retardation, sensorineural deafness and intellectual disability. The disease is caused by variants affecting the gene represented in this entry.

Miscellaneous. Expressed in liver.

Similarity. Belongs to the insulin family.

Isoforms (4)

UniProt ID	Names	Canonical?
P05019-1	1, IGF-IB	yes
P05019-2	2, IGF-IA
P05019-3	3
P05019-4	4

RefSeq proteins (6): NP_000609, NP_001104753, NP_001104754, NP_001104755, NP_001400934, NP_001400936 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR016179	Insulin-like	Domain
IPR022341	IGF-I	Family
IPR022350	IGF-1/2	Family
IPR022352	Ins/IGF/rlx	Family
IPR022353	Insulin_CS	Conserved_site
IPR036438	Insulin-like_sf	Homologous_superfamily

Pfam: PF00049

UniProt features (33 total): strand 7, region of interest 5, helix 4, disulfide bond 3, splice variant 3, sequence variant 3, propeptide 2, compositionally biased region 2, mutagenesis site 2, signal peptide 1, chain 1

Structure

Experimental structures (PDB)

32 structures, top 30 by resolution.

PDB	Method	Resolution (Å)
1TGR	X-RAY DIFFRACTION	1.42
1WQJ	X-RAY DIFFRACTION	1.6
1IMX	X-RAY DIFFRACTION	1.82
1GZR	X-RAY DIFFRACTION	2
1H02	X-RAY DIFFRACTION	2
1H59	X-RAY DIFFRACTION	2.1
2DSR	X-RAY DIFFRACTION	2.1
1GZZ	X-RAY DIFFRACTION	2.3
2DSP	X-RAY DIFFRACTION	2.5
1GZY	X-RAY DIFFRACTION	2.54
6FF3	X-RAY DIFFRACTION	2.57
2DSQ	X-RAY DIFFRACTION	2.8
4XSS	X-RAY DIFFRACTION	3
8X06	ELECTRON MICROSCOPY	3.24
8XJS	ELECTRON MICROSCOPY	3.24
5U8Q	X-RAY DIFFRACTION	3.27
8X2M	ELECTRON MICROSCOPY	3.31
8XK1	ELECTRON MICROSCOPY	3.31
8XKR	ELECTRON MICROSCOPY	3.53
7WRQ	ELECTRON MICROSCOPY	3.6
7S0Q	ELECTRON MICROSCOPY	3.7
8EYR	ELECTRON MICROSCOPY	4
6PYH	ELECTRON MICROSCOPY	4.3
7YRR	ELECTRON MICROSCOPY	4.3
8XKM	ELECTRON MICROSCOPY	5
1B9G	SOLUTION NMR
1BQT	SOLUTION NMR
1PMX	SOLUTION NMR
2GF1	SOLUTION NMR
3GF1	SOLUTION NMR

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P05019-F1	59.69	0.00

Antibody-complex structures (SAbDab): 1 — 5U8Q

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Disulfide bonds (3): 54–96, 66–109, 95–100

Mutagenesis-validated functional residues (2):

Position	Phenotype
84	dominant-negative mutant, no effect on igfr1-binding, defective in integrin-binding and the formation of ternary complex
85	dominant-negative mutant, no effect on igfr1-binding, defective in integrin-binding and the formation of ternary complex

Function

Pathways and Gene Ontology

Reactome pathways

6 pathways

ID	Pathway
R-HSA-114608	Platelet degranulation
R-HSA-2404192	Signaling by Type 1 Insulin-like Growth Factor 1 Receptor (IGF1R)
R-HSA-2428928	IRS-related events triggered by IGF1R
R-HSA-2428933	SHC-related events triggered by IGF1R
R-HSA-381426	Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
R-HSA-422085	Synthesis, secretion, and deacylation of Ghrelin

MSigDB gene sets: 1108 (showing top): MODULE_172, GOBP_CIRCADIAN_RHYTHM, GOBP_MORPHOGENESIS_OF_AN_EPITHELIUM, GCACCTT_MIR18A_MIR18B, TGGTGCT_MIR29A_MIR29B_MIR29C, GOBP_REGULATION_OF_CELL_ACTIVATION, TURASHVILI_BREAST_LOBULAR_CARCINOMA_VS_DUCTAL_NORMAL_UP, GOBP_POSITIVE_REGULATION_OF_MITOTIC_NUCLEAR_DIVISION, GOBP_HINDBRAIN_DEVELOPMENT, GOBP_NEGATIVE_REGULATION_OF_ERK1_AND_ERK2_CASCADE, GOBP_NEGATIVE_REGULATION_OF_REPRODUCTIVE_PROCESS, GOBP_RESPONSE_TO_NITROGEN_COMPOUND, GOBP_REGULATION_OF_LEUKOCYTE_PROLIFERATION, GOBP_CARBOHYDRATE_TRANSPORT, GOBP_EMBRYO_DEVELOPMENT_ENDING_IN_BIRTH_OR_EGG_HATCHING

GO Biological Process (107): skeletal system development (GO:0001501), osteoblast differentiation (GO:0001649), cell activation (GO:0001775), epithelial to mesenchymal transition (GO:0001837), blood vessel remodeling (GO:0001974), signal transduction (GO:0007165), Ras protein signal transduction (GO:0007265), muscle organ development (GO:0007517), circadian rhythm (GO:0007623), cell population proliferation (GO:0008283), positive regulation of cell population proliferation (GO:0008284), negative regulation of cell population proliferation (GO:0008285), insulin receptor signaling pathway (GO:0008286), response to heat (GO:0009408), glycolate metabolic process (GO:0009441), glial cell differentiation (GO:0010001), regulation of gene expression (GO:0010468), positive regulation of glycoprotein biosynthetic process (GO:0010560), positive regulation of cardiac muscle hypertrophy (GO:0010613), positive regulation of gene expression (GO:0010628), negative regulation of gene expression (GO:0010629), skeletal muscle satellite cell maintenance involved in skeletal muscle regeneration (GO:0014834), muscle hypertrophy (GO:0014896), myotube cell development (GO:0014904), positive regulation of smooth muscle cell migration (GO:0014911), cerebellar granule cell precursor proliferation (GO:0021930), positive regulation of cerebellar granule cell precursor proliferation (GO:0021940), proteoglycan biosynthetic process (GO:0030166), positive regulation of cell migration (GO:0030335), androgen receptor signaling pathway (GO:0030521), mammary gland development (GO:0030879), exocrine pancreas development (GO:0031017), positive regulation of myelination (GO:0031643), activation of protein kinase B activity (GO:0032148), negative regulation of interleukin-1 beta production (GO:0032691), negative regulation of tumor necrosis factor production (GO:0032720), regulation of establishment or maintenance of cell polarity (GO:0032878), negative regulation of smooth muscle cell apoptotic process (GO:0034392), multicellular organism growth (GO:0035264), bone mineralization involved in bone maturation (GO:0035630)

GO Molecular Function (9): insulin receptor binding (GO:0005158), insulin-like growth factor receptor binding (GO:0005159), integrin binding (GO:0005178), hormone activity (GO:0005179), growth factor activity (GO:0008083), transmembrane receptor protein tyrosine kinase activator activity (GO:0030297), protein binding (GO:0005515), protein kinase activator activity (GO:0030295), receptor ligand activity (GO:0048018)

GO Cellular Component (11): extracellular region (GO:0005576), obsolete extracellular space (GO:0005615), insulin-like growth factor binding protein complex (GO:0016942), platelet alpha granule lumen (GO:0031093), alphav-beta3 integrin-IGF-1-IGF1R complex (GO:0035867), insulin-like growth factor ternary complex (GO:0042567), exocytic vesicle (GO:0070382), postsynapse (GO:0098794), glutamatergic synapse (GO:0098978), neuronal dense core vesicle lumen (GO:0099013), secretory granule (GO:0030141)

Reactome top-level categories

Rollup of top-5 pathways:

Category	Pathways
IGF1R signaling cascade	2
Response to elevated platelet cytosolic Ca2+	1
Signaling by Receptor Tyrosine Kinases	1
Metabolism of proteins	1
Peptide hormone metabolism	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
signaling receptor binding	4
cellular process	3
cell differentiation	2
cell population proliferation	2
regulation of cell population proliferation	2
gene expression	2
positive regulation of macromolecule biosynthetic process	2
receptor ligand activity	2
signaling receptor activator activity	2
cellular anatomical structure	2
secretory vesicle	2
synapse	2
system development	1
ossification	1
multicellular organismal process	1
mesenchymal cell differentiation	1
tissue remodeling	1
cell communication	1
signaling	1
regulation of cellular process	1
cellular response to stimulus	1
small GTPase-mediated signal transduction	1
animal organ development	1
muscle structure development	1
rhythmic process	1
positive regulation of cellular process	1
negative regulation of cellular process	1
cell surface receptor protein tyrosine kinase signaling pathway	1
cellular response to insulin stimulus	1
response to stress	1
response to temperature stimulus	1
monocarboxylic acid metabolic process	1
primary alcohol metabolic process	1
gliogenesis	1
regulation of macromolecule biosynthetic process	1
glycoprotein biosynthetic process	1
regulation of glycoprotein biosynthetic process	1
positive regulation of glycoprotein metabolic process	1
cardiac muscle hypertrophy	1
regulation of cardiac muscle hypertrophy	1

Protein interactions and networks

STRING

0 interactions, top by confidence (×1000):

IntAct

26 interactions, top by confidence:

A	B	Type	Score
IGF1R	IGF1	psi-mi:“MI:0407”(direct interaction)	0.780
IGF1R	IGF1	psi-mi:“MI:0915”(physical association)	0.780
IGF1	IGF1R	psi-mi:“MI:0915”(physical association)	0.780
IGF1	IGFBP4	psi-mi:“MI:0407”(direct interaction)	0.760
IGFBP4	IGF1	psi-mi:“MI:0407”(direct interaction)	0.760
IGFBP1	IGF1	psi-mi:“MI:0407”(direct interaction)	0.620
IGF1	IGFBP1	psi-mi:“MI:0407”(direct interaction)	0.620
INSR	INS	psi-mi:“MI:0915”(physical association)	0.520
IGF1	IGFBP5	psi-mi:“MI:0407”(direct interaction)	0.440
IGF1	IGFBP3	psi-mi:“MI:0407”(direct interaction)	0.440
IGF1	INSR	psi-mi:“MI:0407”(direct interaction)	0.440
IGF1	Igfbp5	psi-mi:“MI:0407”(direct interaction)	0.440
IGF1	SPCS1	psi-mi:“MI:0915”(physical association)	0.400
IGF1R	INS	psi-mi:“MI:0915”(physical association)	0.400
INSR	IGF1	psi-mi:“MI:0915”(physical association)	0.400

BioGRID (32): IGF1 (Two-hybrid), IGF1 (Affinity Capture-RNA), IGFBP7 (Reconstituted Complex), IGF1 (Affinity Capture-MS), IGFBP3 (Reconstituted Complex), IGF1 (Affinity Capture-MS), IGF1 (Affinity Capture-MS), MESDC2 (Two-hybrid), ENKD1 (Two-hybrid), BANP (Two-hybrid), TCEANC (Two-hybrid), MKRN3 (Two-hybrid), IGF1 (Reconstituted Complex), IGF1 (Reconstituted Complex), IGF1 (Reconstituted Complex)

ESM2 similar proteins: A4Q9F3, A6QPH9, D4A1J9, D4A6L0, E1BBQ2, O42596, P01344, P01346, P05017, P05019, P07455, P07456, P08025, P09535, P10763, P10764, P16501, P16545, P17085, P17647, P18254, P33712, P51457, P51458, P51459, P51462, Q02815, Q02816, Q0IJ12, Q5T848, Q5XI57, Q68LC0, Q6GUL6, Q6IVA5, Q6JLX1, Q80UW0, Q8BXA0, Q8C419, Q8K214, Q8R0A6

Diamond homologs: C0HJI1, C0HJI2, C0HJI3, C0HJI4, C0HJI5, C0HJI6, C0HJI7, C0HJI8, C0HJT9, C0HJU0, O73727, P01314, P01316, P01319, P01320, P01324, P01327, P01328, P01330, P01331, P01333, P01334, P01335, P01336, P01337, P01338, P01339, P01340, P01342, P01344, P01346, P04667, P05017, P05019, P07453, P07455, P07456, P08025, P09476, P09477

SIGNOR signaling

17 interactions.

A	Effect	B	Mechanism
IGF1	“up-regulates activity”	IGF1R	binding
IGF1	up-regulates	IGF1R	binding
HOXA9	“up-regulates quantity by expression”	IGF1	“transcriptional regulation”
IGF1	“down-regulates activity”	GSK3B/Axin/APC	binding
IGF1	up-regulates	Adipogenesis
HNF1A	“up-regulates quantity by expression”	IGF1	“transcriptional regulation”
STAT5A	“up-regulates quantity by expression”	IGF1	“transcriptional regulation”
IGF1	“down-regulates quantity by repression”	MMP13	“transcriptional regulation”
MIR1-1	“down-regulates quantity”	IGF1	“post transcriptional regulation”
IGF1	up-regulates	PPP3CA
IGF1	up-regulates	PPP3CB
IGF1	up-regulates	PPP3CC
IGF1	up-regulates	Calcineurin
PPARGC1A	“up-regulates quantity by expression”	IGF1	“transcriptional regulation”
IGF1	up-regulates	PP2B
IGF1	“up-regulates quantity by expression”	FBN1	“transcriptional regulation”
SOX17/POU5F1	“up-regulates quantity by expression”	IGF1	“transcriptional regulation”

Disease & clinical

Clinical variants and AI predictions

ClinVar

135 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	8
Likely pathogenic	4
Uncertain significance	71
Likely benign	32
Benign	11

Top pathogenic / likely-pathogenic (12)

Variant ID	HGVS	Classification
1357984	NM_000618.5(IGF1):c.34_37del (p.Phe12fs)	Pathogenic
1455141	NC_000012.11:g.(?102813267)(102874159_?)del	Pathogenic
14787	NG_011713.1:g.(9959_65910)_(67647_83034)del	Pathogenic
3235696	GRCh37/hg19 12q23.2(chr12:102771260-103025475)x1	Pathogenic
3244358	NC_000012.11:g.(?102796285)(102875569_?)del	Pathogenic
3644936	NM_000618.5(IGF1):c.205del (p.Arg69fs)	Pathogenic
4281626	NM_000618.5(IGF1):c.228del (p.Thr77fs)	Pathogenic
4281640	NM_000618.5(IGF1):c.327C>A (p.Cys109Ter)	Pathogenic
2501580	NM_000618.5(IGF1):c.103del (p.Leu35fs)	Likely pathogenic
3337174	NM_000618.5(IGF1):c.220+2T>A	Likely pathogenic
4717830	NM_000618.5(IGF1):c.63+2T>A	Likely pathogenic
598613	NM_000618.5(IGF1):c.220+1G>T	Likely pathogenic

SpliceAI

853 predictions. Top by Δscore:

Variant	Effect	Δscore
12:102419503:GCTTA:G	donor_loss	1.0000
12:102419504:CTTA:C	donor_loss	1.0000
12:102419505:TTAC:T	donor_loss	1.0000
12:102419506:TA:T	donor_loss	1.0000
12:102419507:A:C	donor_loss	1.0000
12:102419508:C:CT	donor_loss	1.0000
12:102419508:CCTT:C	donor_gain	1.0000
12:102419686:CTTGT:C	acceptor_gain	1.0000
12:102419687:TTGT:T	acceptor_gain	1.0000
12:102419688:TGT:T	acceptor_gain	1.0000
12:102419689:GT:G	acceptor_gain	1.0000
12:102419689:GTCTG:G	acceptor_loss	1.0000
12:102419690:TCTGC:T	acceptor_loss	1.0000
12:102419691:C:CC	acceptor_gain	1.0000
12:102475635:CTACT:C	donor_loss	1.0000
12:102475636:TACTT:T	donor_loss	1.0000
12:102475637:ACTTA:A	donor_loss	1.0000
12:102475638:CT:C	donor_loss	1.0000
12:102475639:TTA:T	donor_loss	1.0000
12:102475640:TACTG:T	donor_loss	1.0000
12:102475641:A:AC	donor_gain	1.0000
12:102475641:A:C	donor_loss	1.0000
12:102475642:C:CT	donor_gain	1.0000
12:102475642:CT:C	donor_gain	1.0000
12:102475642:CTG:C	donor_gain	1.0000
12:102475642:CTGA:C	donor_gain	1.0000
12:102475642:CTGAA:C	donor_gain	1.0000
12:102402411:A:AC	donor_gain	0.9900
12:102402412:T:C	donor_gain	0.9900
12:102402464:T:TA	donor_gain	0.9900

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000015163 (12:102408430 G>A,T), RS1000037794 (12:102452697 T>C), RS1000045677 (12:102474986 T>C), RS1000102570 (12:102439884 A>G), RS1000126883 (12:102401976 G>A), RS1000203751 (12:102411977 T>G), RS1000232012 (12:102414900 C>T), RS1000233476 (12:102476934 C>A,G,T), RS1000235594 (12:102446456 G>T), RS1000303674 (12:102440031 T>G), RS1000353887 (12:102418530 T>C), RS1000381506 (12:102433910 T>C,G), RS1000442397 (12:102469652 G>A), RS1000474560 (12:102440065 A>T), RS1000509560 (12:102413702 G>A)

Disease associations

OMIM: gene MIM:147440 | disease phenotypes: MIM:608747

GenCC curated gene-disease

Disease	Classification	Inheritance
growth delay due to insulin-like growth factor type 1 deficiency	Definitive	Autosomal recessive

Mondo (3): growth delay due to insulin-like growth factor type 1 deficiency (MONDO:0012110), microcephaly (MONDO:0001149), intellectual disability (MONDO:0001071)

Orphanet (2): Growth delay due to insulin-like growth factor type 1 deficiency (Orphanet:73272), NON RARE IN EUROPE: Unexplained intellectual disability (Orphanet:319658)

HPO phenotypes

48 total (30 of 48 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000135	Hypogonadism
HP:0000153	Abnormality of the mouth
HP:0000252	Microcephaly
HP:0000294	Low anterior hairline
HP:0000347	Micrognathia
HP:0000399	Prelingual sensorineural hearing impairment
HP:0000407	Sensorineural hearing impairment
HP:0000508	Ptosis
HP:0000545	Myopia
HP:0000684	Delayed eruption of teeth
HP:0000708	Atypical behavior
HP:0000736	Short attention span
HP:0000752	Hyperactivity
HP:0000845	Elevated circulating growth hormone concentration
HP:0000855	Insulin resistance
HP:0000938	Osteopenia
HP:0000939	Osteoporosis
HP:0000954	Single transverse palmar crease
HP:0000957	Cafe-au-lait spot
HP:0001249	Intellectual disability
HP:0001256	Mild intellectual disability
HP:0001270	Motor delay
HP:0001508	Failure to thrive
HP:0001511	Intrauterine growth retardation
HP:0001518	Small for gestational age
HP:0001943	Hypoglycemia
HP:0001956	Truncal obesity
HP:0001999	Abnormal facial shape
HP:0002162	Low posterior hairline

GWAS associations

38 associations (top):

Study	Trait	p-value
GCST000522_14	Height	9.000000e-07
GCST000571_1	Fasting blood insulin	3.000000e-08
GCST000611_21	Height	4.000000e-08
GCST001526_2	Fasting blood insulin (BMI interaction)	1.000000e-09
GCST001859_43	Thiazide-induced adverse metabolic effects in hypertensive patients	3.000000e-06
GCST002667_9	Mammographic density (dense area)	4.000000e-10
GCST002702_68	Height	4.000000e-47
GCST005146_40	Birth weight	1.000000e-08
GCST005179_2	Homeostasis model assessment of insulin resistance	2.000000e-09
GCST005185_2	Fasting blood insulin	9.000000e-09
GCST005580_189	Intraocular pressure	3.000000e-08
GCST005580_309	Intraocular pressure	4.000000e-09
GCST006295_1	Response to quetiapine in schizophrenia	4.000000e-07
GCST006412_79	Intraocular pressure	2.000000e-08
GCST006624_28	Systolic blood pressure	2.000000e-15
GCST007429_116	Lung function (FVC)	9.000000e-09
GCST007430_52	Peak expiratory flow	2.000000e-23
GCST007432_45	FEV1	7.000000e-10
GCST008053_157	Height	4.000000e-10
GCST008362_13	Birth weight	3.000000e-12
GCST008363_93	Offspring birth weight	3.000000e-09
GCST008363_94	Offspring birth weight	1.000000e-12
GCST008363_95	Offspring birth weight	1.000000e-15
GCST008839_437	Height	3.000000e-14
GCST008839_47	Height	3.000000e-14
GCST008839_550	Height	1.000000e-08
GCST008839_596	Height	4.000000e-23
GCST009269_13	Dental caries (decayed and filled deciduous teeth)	2.000000e-06
GCST009863_18	Insulin-related traits (multivariate analysis)	1.000000e-07
GCST010002_221	Refractive error	3.000000e-10

EFO canonical traits (15, from GWAS)

EFO ID	Trait name
EFO:0004340	body mass index
EFO:0005941	mammographic density measurement
EFO:0006503	dense area measurement
EFO:0004344	birth weight
EFO:0004501	HOMA-IR
EFO:0004695	intraocular pressure measurement
EFO:0006335	systolic blood pressure
EFO:0004312	vital capacity
EFO:0009718	peak expiratory flow
EFO:0004314	forced expiratory volume
EFO:0005939	parental genotype effect measurement
EFO:0004467	insulin measurement
EFO:0004346	neuroimaging measurement
EFO:0008039	BMI-adjusted hip circumference
EFO:0007788	BMI-adjusted waist-hip ratio

MeSH disease descriptors (3)

Descriptor	Name	Tree numbers
D008607	Intellectual Disability	C10.597.606.360; C23.888.592.604.646; F01.700.687; F03.625.539
D008831	Microcephaly	C05.660.207.620; C10.500.507.400.500; C16.131.621.207.620; C16.131.666.507.400.500
C563867	Insulin-Like Growth Factor I Deficiency (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL3217394 (SINGLE PROTEIN)

PharmGKB: 1 entry (VIP=true, CPIC=false)

PharmGKB variants

3 variants.

Variant	Genes	Level	Score	#Clin annots	Drugs
rs6214	IGF1		0.00	0
rs2946834	IGF1		0.00	0
rs7136446	IGF1		0.00	0

CTD chemical–gene interactions

207 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Estradiol	decreases expression, affects localization, increases phosphorylation, increases reaction, affects expression (+7 more)	17
bisphenol A	affects expression, affects cotreatment, increases methylation, decreases reaction, increases expression (+3 more)	9
2-(4-morpholinyl)-8-phenyl-4H-1-benzopyran-4-one	decreases reaction, increases reaction, decreases response to substance, increases activity, affects binding (+6 more)	9
Octreotide	affects expression, decreases expression	8
Resveratrol	increases activity, increases phosphorylation, decreases expression, decreases response to substance, decreases reaction (+2 more)	6
Wortmannin	affects cotreatment, decreases reaction, increases expression, increases reaction, increases activity (+2 more)	6
Benzo(a)pyrene	affects methylation, decreases reaction, decreases expression, decreases methylation, decreases phosphorylation (+5 more)	5
Progesterone	increases secretion, decreases reaction, increases expression, increases abundance, increases reaction (+1 more)	5
Cyclosporine	decreases reaction, increases activity, increases expression, decreases expression, increases secretion (+1 more)	5
Sirolimus	decreases reaction, increases phosphorylation, decreases activity, increases expression, increases secretion (+2 more)	5
Raloxifene Hydrochloride	decreases reaction, increases reaction, decreases expression, increases expression, affects binding	5
sodium arsenite	affects cotreatment, affects reaction, decreases expression, increases phosphorylation, decreases reaction (+3 more)	4
2-(2-amino-3-methoxyphenyl)-4H-1-benzopyran-4-one	affects cotreatment, decreases reaction, increases phosphorylation, increases reaction, increases activity	4
Arsenic Trioxide	decreases expression, increases expression, affects response to substance, decreases reaction, increases activity (+1 more)	4
Ethinyl Estradiol	affects cotreatment, decreases expression	4
Ethanol	increases activity, decreases expression, affects cotreatment, increases expression, decreases reaction	3
Curcumin	increases activity, decreases activity, decreases secretion, decreases expression, affects cotreatment (+2 more)	3
Dexamethasone	decreases expression, increases expression, affects cotreatment, decreases reaction, increases phosphorylation (+1 more)	3
Hydrocortisone	affects reaction, decreases expression, decreases reaction	3
Hydrogen Peroxide	decreases expression, decreases reaction, increases reaction, decreases phosphorylation, increases activity (+1 more)	3
Nickel	decreases expression, decreases response to substance	3
Tamoxifen	affects cotreatment, decreases expression, decreases reaction, increases secretion	3
Valproic Acid	decreases methylation, affects expression, decreases expression	3
benzo(b)fluoranthene	affects cotreatment, affects expression, increases expression	2
perfluorooctanoic acid	increases expression, increases secretion, affects reaction, decreases expression, affects cotreatment (+1 more)	2
1,2,5,6-dibenzanthracene	increases expression, affects cotreatment, affects expression	2
epigallocatechin gallate	decreases expression	2
bicalutamide	affects cotreatment, decreases expression, decreases reaction, increases expression	2
(+)-JQ1 compound	decreases reaction, decreases expression, decreases phosphorylation	2
Lycopene	increases expression, increases phosphorylation, decreases expression, decreases reaction	2

ChEMBL screening assays

1 unique, capped per target: 1 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL3225607	Binding	Binding affinity to human IGF-1 (amino acid residues G49 to A118) at 0.125 to 2 uM by surface plasmon resonance assay	Binding region and interaction properties of sulfoquinovosylacylglycerol (SQAG) with human vascular endothelial growth factor 165 revealed by biosensor-based assays — Medchemcomm

Cellosaurus cell lines

14 cell lines: 4 cancer cell line, 4 spontaneously immortalized cell line, 3 embryonic stem cell, 3 finite cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_A3D5	SEES3-1V human IGF1, clone1	Embryonic stem cell	Male
CVCL_A3D6	SEES3-1V human IGF1, clone2	Embryonic stem cell	Male
CVCL_A3D7	SEES3-1V human IGF1, clone3	Embryonic stem cell	Male
CVCL_B6BR	MSC IGF-1#1	Finite cell line	Male
CVCL_B6BS	MSC IGF-1#2	Finite cell line	Male
CVCL_B6BT	MSC IGF-1#3	Finite cell line	Male
CVCL_B8HZ	Abcam HCT 116 IGF1 KO	Cancer cell line	Male
CVCL_B8X5	Abcam MCF-7 IGF1 KO	Cancer cell line	Female
CVCL_B9K9	Abcam A-549 IGF1 KO	Cancer cell line	Male
CVCL_E0EQ	Ubigene HeLa IGF1 KO	Cancer cell line	Female

Clinical trials (associated diseases)

212 trials via MONDO — disease-level, not drug-specific.

Trial	Phase	Status	Title
NCT05657860	PHASE4	COMPLETED	Guanfacine Extended Release for the Reduction of Aggression and Self-injurious Behavior Associated With Prader-Willi Syndrome
NCT05744479	PHASE4	RECRUITING	Metformin for Antipsychotic-induced Weight Gain in Adults With Intellectual Disability
NCT06107829	PHASE4	WITHDRAWN	Valbenazine Treatment of Tardive Dyskinesia in Adults With Intellectual/Developmental Disabilities
NCT06997198	PHASE4	NOT_YET_RECRUITING	Deutetrabenazine Treatment for Tardive Dyskinesia in Intellectual/Developmental Disabilities
NCT02270736	PHASE3	COMPLETED	Clinical Study to Investigate the Efficacy and Safety of NT 201 Compared to Placebo in the Treatment of Chronic Troublesome Drooling Associated With Neurological Disorders and/or Intellectual Disability
NCT02304302	PHASE2	COMPLETED	Down Syndrome Memantine Follow-up Study
NCT03862950	PHASE2	COMPLETED	A Trial of Metformin in Individuals With Fragile X Syndrome (Met)
NCT04529226	PHASE2	UNKNOWN	Study to Compare Clozapine vs Treatment as Usual in People With Intellectual Disability & Treatment-resistant Psychosis
NCT04821856	PHASE2	COMPLETED	Evaluation of the Effectiveness of Cannabidiol in Treating Severe Behavioural Problems in Children and Adolescents With Intellectual Disability
NCT05273320	PHASE1	COMPLETED	Clinical Trial of Nabilone for Aggression in Adults With Intellectual and Developmental Disabilities
NCT05301361	PHASE1	ENROLLING_BY_INVITATION	Sensitivity of the NIH Toolbox to Stimulant Treatment in Intellectual Disabilities
NCT06016764	PHASE1	COMPLETED	Use of MRI and cTBS for Catatonia in Autism
NCT06586827	PHASE1	COMPLETED	Impact of Competency-Based Training and Technical Assistance Employment Outcomes of Individuals With ID/DD
NCT07531940	PHASE1	NOT_YET_RECRUITING	Escalating Doses of Memantine in Down Syndrome (MEDS-123)
NCT01676090	Not specified	TERMINATED	IGF-1, IGFBP3, ALS Normative Ranges in Healthy Pediatric Spanish Population
NCT05518188	PHASE1/PHASE2	RECRUITING	Melpida: Recombinant Adeno-associated Virus (serotype 9) Encoding a Codon Optimized Human AP4M1 Transgene (hAP4M1opt)
NCT00001639	Not specified	COMPLETED	Evaluation of Patients With Unresolved Chromosome Abnormalities
NCT01151462	Not specified	WITHDRAWN	Postnatal HCMV Infection in Very Preterm Infants. Implications, Morbidity, Growth and Neurodevelopmental Outcomes.
NCT01565005	Not specified	COMPLETED	Microcephaly Genetic Deficiency in Neural Progenitors
NCT02510170	Not specified	COMPLETED	Fetal and Maternal Head Circumference During Pregnancy in Israeli Population
NCT02741882	Not specified	COMPLETED	Zika and Microcephaly: Case-control Study
NCT02943304	Not specified	COMPLETED	Neurodevelopment Outcome of Newborns Exposed to Zika Virus (ZIKV) in Utero
NCT03255369	Not specified	UNKNOWN	Vertical Exposure to Zika Virus and Its Consequences for Child Neurodevelopment (ZIKVIRUSIFF)
NCT03325946	Not specified	RECRUITING	The FBRI VTC Neuromotor Research Clinic
NCT03330600	Not specified	COMPLETED	Efficacy of Aquatic Physiotherapy in Children With Microcephaly by Zika Virus Congenital Syndrome
NCT03548779	Not specified	COMPLETED	North Carolina Genomic Evaluation by Next-generation Exome Sequencing, 2
NCT03651687	Not specified	COMPLETED	Guangzhou Surveillance and Clinical Study in Microcephaly (GSCSM)
NCT03922594	Not specified	TERMINATED	Surveillance of Zika-related Microcephaly in Sub-Saharan Africa and Asia
NCT04816175	Not specified	COMPLETED	Intensive Therapy for Children With Microcephaly, Hyperkinetic Movements, or Global Developmental Delay
NCT05322980	Not specified	COMPLETED	Summary of Infants Weighing 500 Grams or Less
NCT06019182	Not specified	RECRUITING	MEHMO Natural History and Biomarkers
NCT06566066	Not specified	RECRUITING	Register for Patients With Thyroid Hormone Resistance.
NCT03479476	PHASE2/PHASE3	COMPLETED	A Trial of Metformin in Individuals With Fragile X Syndrome
NCT02616796	PHASE1/PHASE2	COMPLETED	Effects of Social Gaze Training on Brain and Behavior in Fragile X Syndrome
NCT06860672	EARLY_PHASE1	RECRUITING	Clinical Trial of the Dual Vector Base Editor for the Treatment of the CHD3-R1025W Mutation
NCT00597948	Not specified	COMPLETED	Healthy Lifestyles for People With Intellectual Disabilities
NCT01087320	Not specified	RECRUITING	Genome Medical Sequencing for Gene Discovery
NCT01652963	Not specified	UNKNOWN	Picture-based Computerised Assessment and Training of Cognitive Behaviour Therapy Skills
NCT01695395	Not specified	COMPLETED	Mental Health Care Provision for Adults With Intellectual Disability and a Mental Disorder
NCT01867554	Not specified	COMPLETED	Research and Characterization of New Genes Involved in Intellectual Disability