DIPK1A

Summary

DIPK1A (divergent protein kinase domain 1A, HGNC:32213) is a protein-coding gene on chromosome 1p22.1, encoding Divergent protein kinase domain 1A (Q5T7M9).

This gene encodes a member of the FAM69 family of cysteine-rich type II transmembrane proteins. These proteins localize to the endoplasmic reticulum but their specific functions are unknown. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene.

Source: NCBI Gene 388650 — RefSeq curated summary.

At a glance

• GWAS associations: 11
• Clinical variants (ClinVar): 354 total — 46 pathogenic, 21 likely-pathogenic
• Phenotypes (HPO): 1
• MANE Select transcript: NM_001006605

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:32213
Approved symbol	DIPK1A
Name	divergent protein kinase domain 1A
Location	1p22.1
Locus type	gene with protein product
Status	Approved
Aliases	FLJ23493
Ensembl gene	ENSG00000154511
Ensembl biotype	protein_coding
OMIM	614542
Entrez	388650

Gene structure

Transcript identifiers

Ensembl transcripts: 7 — 7 protein_coding

ENST00000370310, ENST00000613047, ENST00000613902, ENST00000615519, ENST00000616709, ENST00000880343, ENST00000880344

RefSeq mRNA: 8 — MANE Select: NM_001006605 NM_001006605, NM_001252269, NM_001252270, NM_001252271, NM_001252273, NM_001426239, NM_001426240, NM_001426241

CCDS: CCDS44173, CCDS72822, CCDS72823, CCDS72824, CCDS72825

Canonical transcript exons

ENST00000370310 — 5 exons

Exon	Start	End
ENSE00001016333	92850848	92850955
ENSE00001016336	92847183	92847359
ENSE00001158568	92876296	92876430
ENSE00001452349	92842167	92844195
ENSE00001882462	92961376	92961462

Expression profiles

Bgee: expression breadth ubiquitous, 275 present calls, max score 99.17.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 9.9265 / max 272.7187, expressed in 1496 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
13294	9.4846	1493
13295	0.3120	112
13292	0.0632	25
13293	0.0370	14
13291	0.0297	18

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
endothelial cell	CL:0000115	99.17	gold quality
Brodmann (1909) area 23	UBERON:0013554	96.78	gold quality
middle temporal gyrus	UBERON:0002771	96.01	gold quality
CA1 field of hippocampus	UBERON:0003881	93.83	gold quality
decidua	UBERON:0002450	93.63	gold quality
periodontal ligament	UBERON:0008266	93.47	gold quality
Brodmann (1909) area 46	UBERON:0006483	93.28	gold quality
cranial nerve II	UBERON:0000941	92.44	gold quality
primary visual cortex	UBERON:0002436	92.34	gold quality
dorsal motor nucleus of vagus nerve	UBERON:0002870	91.99	gold quality
entorhinal cortex	UBERON:0002728	91.86	gold quality
superior frontal gyrus	UBERON:0002661	91.63	gold quality
postcentral gyrus	UBERON:0002581	91.52	gold quality
inferior olivary complex	UBERON:0002127	91.40	gold quality
Brodmann (1909) area 9	UBERON:0013540	91.22	gold quality
corpus callosum	UBERON:0002336	91.14	gold quality
stromal cell of endometrium	CL:0002255	90.70	gold quality
parietal lobe	UBERON:0001872	90.69	gold quality
prefrontal cortex	UBERON:0000451	90.62	gold quality
sperm	CL:0000019	90.59	silver quality
occipital lobe	UBERON:0002021	90.56	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	90.35	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	90.33	gold quality
spinal cord	UBERON:0002240	89.93	gold quality
subthalamic nucleus	UBERON:0001906	89.92	gold quality
Ammon’s horn	UBERON:0001954	89.92	gold quality
pancreatic ductal cell	CL:0002079	89.91	gold quality
frontal cortex	UBERON:0001870	89.60	gold quality
cerebral cortex	UBERON:0000956	89.57	gold quality
caudate nucleus	UBERON:0001873	89.48	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	10.83

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

125 targeting DIPK1A, 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-513A-5P	100.00	69.77	2465
HSA-MIR-1252-5P	100.00	69.80	2774
HSA-MIR-30A-5P	100.00	76.31	3233
HSA-MIR-30B-5P	100.00	76.29	3248
HSA-MIR-30C-5P	100.00	76.29	3248
HSA-MIR-30D-5P	100.00	76.32	3233
HSA-MIR-30E-5P	100.00	76.32	3242
HSA-MIR-340-5P	100.00	72.50	4437
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-223-3P	99.99	70.14	1140
HSA-MIR-4789-3P	99.99	70.75	2484
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-27A-3P	99.98	72.13	2955
HSA-MIR-27B-3P	99.98	72.13	2955
HSA-MIR-9985	99.98	72.11	2939
HSA-MIR-19B-3P	99.98	75.44	2754
HSA-MIR-19A-3P	99.98	75.33	2762
HSA-MIR-548N	99.98	71.94	4170
HSA-MIR-2110	99.96	66.68	1930
HSA-MIR-3658	99.96	73.87	4379
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-559	99.95	72.28	3609
HSA-MIR-548AB	99.95	71.31	3488
HSA-MIR-6772-5P	99.94	67.01	577
HSA-MIR-548A-5P	99.94	71.27	3482
HSA-MIR-548AD-5P	99.94	71.23	3502
HSA-MIR-548AE-5P	99.94	71.23	3502
HSA-MIR-548AK	99.94	71.24	3488
HSA-MIR-548AM-5P	99.94	71.24	3488
HSA-MIR-548AP-5P	99.94	71.14	3489

Literature-anchored findings (GeneRIF, showing 1)

• An analysis and fine mapping of GFI-EVI5-RPL5-FAM69A locus, genotyping eight Tag-single nucleotide polymorphisms in 732 multiple sclerosis patients and 974 controls from Spain, was performed. (PMID:20087403)

Cross-species orthologs

6 orthologs

Organism	Symbol	Gene ID
danio_rerio	dipk1ab	ENSDARG00000061362
danio_rerio	dipk1aa	ENSDARG00000062955
mus_musculus	Dipk1a	ENSMUSG00000029270
rattus_norvegicus	Dipk1a	ENSRNOG00000023533
drosophila_melanogaster	aln	FBGN0035179
caenorhabditis_elegans	C53D5.1	WBGENE00016902

Paralogs (2): DIPK1B (ENSG00000165716), DIPK1C (ENSG00000187773)

Protein

Protein identifiers

Divergent protein kinase domain 1A — Q5T7M9 (reviewed: Q5T7M9)

Alternative names: Protein FAM69A

All UniProt accessions (4): Q5T7M9, A0A087WZ97, A0A087WZK6, A0A087X2C2

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Endoplasmic reticulum membrane.

Post-translational modifications. Among the many cysteines in the lumenal domain, most are probably involved in disulfide bonds.

Similarity. Belongs to the DIPK family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q5T7M9-1	1	yes
Q5T7M9-2	2

RefSeq proteins (8): NP_001006606, NP_001239198, NP_001239199, NP_001239200, NP_001239202, NP_001413168, NP_001413169, NP_001413170 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR022049	FAM69_kinase_dom	Domain
IPR029244	FAM69_N	Domain

Pfam: PF12260, PF14875

UniProt features (6 total): topological domain 2, splice variant 2, chain 1, transmembrane region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q5T7M9-F1	83.20	0.57

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 210 (showing top): DAVICIONI_RHABDOMYOSARCOMA_PAX_FOXO1_FUSION_UP, RUTELLA_RESPONSE_TO_CSF2RB_AND_IL4_UP, RUTELLA_RESPONSE_TO_HGF_VS_CSF2RB_AND_IL4_DN, CHARAFE_BREAST_CANCER_LUMINAL_VS_BASAL_DN, chr1p22, SCHLOSSER_MYC_AND_SERUM_RESPONSE_SYNERGY, ZHENG_BOUND_BY_FOXP3, MARSON_BOUND_BY_FOXP3_STIMULATED, MARSON_BOUND_BY_FOXP3_UNSTIMULATED, MASSARWEH_TAMOXIFEN_RESISTANCE_UP, ZHENG_FOXP3_TARGETS_IN_THYMUS_UP, ZHENG_FOXP3_TARGETS_IN_T_LYMPHOCYTE_DN, GOCC_NUCLEAR_OUTER_MEMBRANE_ENDOPLASMIC_RETICULUM_MEMBRANE_NETWORK, BLALOCK_ALZHEIMERS_DISEASE_DN, GOCC_ORGANELLE_SUBCOMPARTMENT

GO Biological Process (0):

GO Molecular Function (1): protein binding (GO:0005515)

GO Cellular Component (3): endoplasmic reticulum membrane (GO:0005789), endoplasmic reticulum (GO:0005783), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
binding	1
organelle membrane	1
nuclear outer membrane-endoplasmic reticulum membrane network	1
endoplasmic reticulum subcompartment	1
cytoplasm	1
endomembrane system	1
intracellular membrane-bounded organelle	1
cellular anatomical structure	1

Protein interactions and networks

STRING

356 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
DIPK1A	DIPK2B	Q9H7Y0	657
DIPK1A	E7EQY1	E7EQY1	596
DIPK1A	DIPK2A	Q8NDZ4	570
DIPK1A	PKDCC	Q504Y2	519
DIPK1A	EVI5	O60447	518
DIPK1A	CDRT15L2	A8MXV6	506
DIPK1A	PPP6R2	O75170	493
DIPK1A	RPL5	P46777	433
DIPK1A	FAM20A	Q96MK3	403
DIPK1A	POMK	Q9H5K3	391
DIPK1A	ZC3H3	Q8IXZ2	390
DIPK1A	NRN1L	Q496H8	374
DIPK1A	TYW1B	Q6NUM6	371
DIPK1A	SEL1L3	Q68CR1	370
DIPK1A	FAM20B	O75063	368

IntAct

95 interactions, top by confidence:

A	B	Type	Score
CHST15	CANX	psi-mi:“MI:0914”(association)	0.670
A4GNT	POTEF	psi-mi:“MI:0914”(association)	0.530
CD1B	TOR1B	psi-mi:“MI:0914”(association)	0.530
CD1E	SUSD5	psi-mi:“MI:0914”(association)	0.530
ZACN	GPAA1	psi-mi:“MI:0914”(association)	0.530
B4GAT1	ADCY6	psi-mi:“MI:0914”(association)	0.530
TMED6	SMPD2	psi-mi:“MI:0914”(association)	0.530
DIPK1A	TMEM259	psi-mi:“MI:0914”(association)	0.530
CHRNA4	FZD6	psi-mi:“MI:0914”(association)	0.530
PARP2	DIPK1A	psi-mi:“MI:0557”(adp ribosylation reaction)	0.440
CHRNA3	TMEM223	psi-mi:“MI:0914”(association)	0.350
HTR3C	TMEM223	psi-mi:“MI:0914”(association)	0.350
CLEC2D	TMEM120B	psi-mi:“MI:0914”(association)	0.350
GLMP	RTL8C	psi-mi:“MI:0914”(association)	0.350
TMPRSS11B		psi-mi:“MI:0914”(association)	0.350
TMED6	UPK3BL1	psi-mi:“MI:0914”(association)	0.350
ASIC4	UPK3BL1	psi-mi:“MI:0914”(association)	0.350
LYPD4	DPYSL4	psi-mi:“MI:0914”(association)	0.350
ST8SIA4	NRP1	psi-mi:“MI:0914”(association)	0.350
CD79B	GOLIM4	psi-mi:“MI:0914”(association)	0.350
IL17RC	C2CD2L	psi-mi:“MI:0914”(association)	0.350
MPPE1	ADAM10	psi-mi:“MI:0914”(association)	0.350
HTR3A	GPAA1	psi-mi:“MI:0914”(association)	0.350
B4GAT1	ADCY6	psi-mi:“MI:0914”(association)	0.350
GGT7	ENTPD6	psi-mi:“MI:0914”(association)	0.350
NCEH1	C1QL1	psi-mi:“MI:0914”(association)	0.350
PNLDC1	C1QL1	psi-mi:“MI:0914”(association)	0.350
GRIA3	SEMA4F	psi-mi:“MI:0914”(association)	0.350

BioGRID (124): FAM69A (Affinity Capture-MS), FAM69A (Affinity Capture-MS), FAM69A (Affinity Capture-MS), FAM69A (Affinity Capture-MS), FAM69A (Affinity Capture-MS), FAM69A (Affinity Capture-MS), FAM69A (Affinity Capture-MS), FAM69A (Affinity Capture-MS), FAM69A (Affinity Capture-MS), FAM69A (Affinity Capture-MS), FAM69A (Affinity Capture-MS), FAM69A (Affinity Capture-MS), FAM69A (Affinity Capture-MS), FAM69A (Affinity Capture-MS), FAM69A (Affinity Capture-MS)

ESM2 similar proteins: A0JPE1, A4D0V7, D3Z2R5, O43916, P97259, Q08834, Q09328, Q1RLQ5, Q3TUA9, Q4V8A9, Q58CX7, Q5F349, Q5FVL3, Q5HZP7, Q5NDE4, Q5NDE5, Q5NDE7, Q5NDE8, Q5R634, Q5R9Q9, Q5RJQ0, Q5T7M9, Q5U3W1, Q5VUD6, Q640M6, Q68CR1, Q6DBY9, Q6DCL6, Q6Q2W4, Q80TS8, Q8C1F4, Q8C3I9, Q8N6G5, Q8NBP0, Q8NHY0, Q8R4G6, Q8R553, Q8WTR4, Q92179, Q95JJ0

Diamond homologs: A0JPE1, Q1RLQ5, Q5FVL3, Q5R634, Q5T7M9, Q5VUD6, Q6DCL6, Q99ML4, Q9D6I7

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 117 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
Neurotransmitter receptors and postsynaptic signal transmission	7	9.0×	8e-04
Transmission across Chemical Synapses	7	6.8×	3e-03

GO biological processes:

GO term	Partners	Fold	FDR
acetylcholine receptor signaling pathway	5	28.9×	2e-04
glycoprotein biosynthetic process	6	18.7×	2e-04
monoatomic ion transmembrane transport	7	13.5×	2e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	46
Likely pathogenic	21
Uncertain significance	163
Likely benign	74
Benign	7

Top pathogenic / likely-pathogenic (30)

Variant ID	HGVS	Classification
100638	NM_000969.5(RPL5):c.244G>T (p.Glu82Ter)	Pathogenic
100639	NM_000969.5(RPL5):c.664C>T (p.Gln222Ter)	Pathogenic
1030925	NM_000969.5(RPL5):c.459_460insTGAA (p.Thr154Ter)	Pathogenic
1298428	NM_000969.5(RPL5):c.657C>A (p.Tyr219Ter)	Pathogenic
1383221	NM_000969.5(RPL5):c.608dup (p.Asn203fs)	Pathogenic
1451573	NM_000969.5(RPL5):c.500dup (p.Asp168fs)	Pathogenic
1743930	NM_000969.5(RPL5):c.48C>A (p.Tyr16Ter)	Pathogenic
1751601	NM_000969.5(RPL5):c.60del (p.Phe20fs)	Pathogenic
1752117	NM_000969.5(RPL5):c.619_620insTGTACATCGGAAGCACATCATGGGCCAGAATGTTGCAGATT (p.Tyr207fs)	Pathogenic
1758874	NM_000969.5(RPL5):c.742C>T (p.Arg248Ter)	Pathogenic
1766492	NM_000969.5(RPL5):c.92dup (p.Tyr31Ter)	Pathogenic
1788080	NM_000969.5(RPL5):c.222dup (p.Val75fs)	Pathogenic
1789249	NM_000969.5(RPL5):c.22A>T (p.Lys8Ter)	Pathogenic
2019799	NM_000969.5(RPL5):c.215_218del (p.Asp72fs)	Pathogenic
2159322	NM_000969.5(RPL5):c.479_480del (p.Phe160fs)	Pathogenic
2202777	NM_000969.5(RPL5):c.173del (p.Arg58fs)	Pathogenic
2503388	NM_000969.5(RPL5):c.46_47del (p.Tyr16fs)	Pathogenic
2578577	NM_000969.5(RPL5):c.527+1_527+2delinsTG	Pathogenic
2690941	NM_000969.5(RPL5):c.236del (p.Tyr79fs)	Pathogenic
2730891	NM_000969.5(RPL5):c.71del (p.Arg24fs)	Pathogenic
2761597	NM_000969.5(RPL5):c.161G>C (p.Arg54Pro)	Pathogenic
2766031	NM_000969.5(RPL5):c.115_121del (p.Gln39fs)	Pathogenic
2810782	NM_000969.5(RPL5):c.272del (p.Gly91fs)	Pathogenic
3026911	NM_000969.5(RPL5):c.516dup (p.Ile173fs)	Pathogenic
3340635	NM_000969.5(RPL5):c.474dup (p.Val159fs)	Pathogenic
3666892	NM_000969.5(RPL5):c.528dup (p.Thr177fs)	Pathogenic
411871	NM_000969.5(RPL5):c.132C>G (p.Tyr44Ter)	Pathogenic
419160	NM_000969.5(RPL5):c.335_338del (p.Arg112fs)	Pathogenic
4531714	NM_000969.5(RPL5):c.336del (p.Arg112fs)	Pathogenic
4735049	NM_000969.5(RPL5):c.639del (p.Glu214fs)	Pathogenic

SpliceAI

2146 predictions. Top by Δscore:

Variant	Effect	Δscore
1:92833543:A:AG	acceptor_gain	1.0000
1:92833543:AGAG:A	acceptor_gain	1.0000
1:92833544:G:GC	acceptor_gain	1.0000
1:92833544:GA:G	acceptor_gain	1.0000
1:92833544:GAGG:G	acceptor_gain	1.0000
1:92833656:GTCAG:G	donor_gain	1.0000
1:92833659:AGGT:A	donor_loss	1.0000
1:92833661:G:GG	donor_gain	1.0000
1:92833661:GTA:G	donor_loss	1.0000
1:92833662:T:A	donor_loss	1.0000
1:92834777:A:AG	acceptor_gain	1.0000
1:92834777:AGATT:A	acceptor_gain	1.0000
1:92834778:G:GC	acceptor_gain	1.0000
1:92834778:GAT:G	acceptor_gain	1.0000
1:92834778:GATT:G	acceptor_gain	1.0000
1:92834778:GATTG:G	acceptor_gain	1.0000
1:92834909:GCAGG:G	donor_gain	1.0000
1:92834912:GG:G	donor_gain	1.0000
1:92834913:GG:G	donor_gain	1.0000
1:92834913:GGTA:G	donor_loss	1.0000
1:92836188:A:AG	acceptor_gain	1.0000
1:92836189:G:GG	acceptor_gain	1.0000
1:92836189:GC:G	acceptor_gain	1.0000
1:92836189:GCT:G	acceptor_gain	1.0000
1:92836189:GCTT:G	acceptor_gain	1.0000
1:92836189:GCTTC:G	acceptor_gain	1.0000
1:92836390:CAG:C	donor_gain	1.0000
1:92836391:AG:A	donor_gain	1.0000
1:92836391:AGGT:A	donor_loss	1.0000
1:92836392:GG:G	donor_gain	1.0000

AlphaMissense

2835 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:92843413:C:A	W419C	1.000
1:92843413:C:G	W419C	1.000
1:92843429:A:G	L414P	1.000
1:92843415:A:G	W419R	0.999
1:92843415:A:T	W419R	0.999
1:92843438:A:G	L411P	0.999
1:92843491:A:C	C393W	0.999
1:92843492:C:T	C393Y	0.999
1:92843493:A:G	C393R	0.999
1:92843569:A:C	C367W	0.999
1:92843571:A:G	C367R	0.999
1:92843609:C:G	C354S	0.999
1:92843610:A:T	C354S	0.999
1:92843875:C:A	W265C	0.999
1:92843875:C:G	W265C	0.999
1:92844005:C:T	C222Y	0.999
1:92843417:A:G	L418S	0.998
1:92843425:T:A	K415N	0.998
1:92843425:T:G	K415N	0.998
1:92843570:C:T	C367Y	0.998
1:92843610:A:G	C354R	0.998
1:92843659:A:C	C337W	0.998
1:92843660:C:G	C337S	0.998
1:92843661:A:T	C337S	0.998
1:92843792:C:G	C293S	0.998
1:92843793:A:G	C293R	0.998
1:92843793:A:T	C293S	0.998
1:92843843:A:G	L276P	0.998
1:92843846:A:G	L275P	0.998
1:92843877:A:G	W265R	0.998

dbSNP variants (sampled 300 via entrez): RS1000101600 (1:92961844 C>G,T), RS1000114706 (1:92934235 A>G), RS1000158050 (1:92914074 C>A,T), RS1000197072 (1:92944199 G>C), RS1000241099 (1:92951246 A>C,G), RS1000247586 (1:92934741 T>C), RS1000266498 (1:92875408 T>C), RS1000291348 (1:92850356 G>A,T), RS1000305053 (1:92841100 T>C), RS1000342465 (1:92850661 A>G), RS1000356133 (1:92903080 G>T), RS1000420723 (1:92883126 C>T), RS1000444865 (1:92913652 G>A,C), RS1000449240 (1:92842540 A>C,G), RS1000449819 (1:92860229 A>G)

Disease associations

OMIM: gene MIM:614542 | disease phenotypes: MIM:612561, MIM:105650, MIM:108800, MIM:609135

GenCC curated gene-disease

Mondo (8): Diamond-Blackfan anemia 6 (MONDO:0012937), Diamond-Blackfan anemia (MONDO:0015253), Diamond-Blackfan anemia 1 (MONDO:0007110), intellectual disability (MONDO:0001071), hemangioma (MONDO:0006500), atrial septal defect (MONDO:0006664), aplastic anemia (MONDO:0015909), pulmonary arterial hypertension (MONDO:0015924)

Orphanet (7): Diamond-Blackfan anemia (Orphanet:124), Interatrial communication (Orphanet:1478), Rare aplastic anemia (Orphanet:182040), Pulmonary arterial hypertension (Orphanet:182090), Idiopathic aplastic anemia (Orphanet:88), NON RARE IN EUROPE: Unexplained intellectual disability (Orphanet:319658), Idiopathic/heritable pulmonary arterial hypertension (Orphanet:422)

HPO phenotypes

1 total (1 of 1 shown, HPO-id order):

HPO	Term
HP:0001028	Hemangioma

GWAS associations

11 associations (top):

Study	Trait	p-value
GCST000821_98	Bipolar disorder and schizophrenia	4.000000e-06
GCST004525_5	Subclinical trait of interstitial lung disease (basilar peel-core ratio of high attentuation areas on CT scan)	4.000000e-08
GCST007563_13	Allergic disease (asthma, hay fever or eczema)	7.000000e-09
GCST007576_212	Chronotype	2.000000e-08
GCST009597_142	Multiple sclerosis	3.000000e-08
GCST010002_363	Refractive error	3.000000e-10
GCST90000025_935	Appendicular lean mass	9.000000e-14
GCST90002387_229	Immature fraction of reticulocytes	4.000000e-11
GCST90002398_487	Neutrophil count	1.000000e-09
GCST90002400_39	Plateletcrit	5.000000e-10
GCST90002402_482	Platelet count	5.000000e-13

EFO canonical traits (6, from GWAS)

EFO ID	Trait name
EFO:0007627	airway imaging measurement
EFO:0008328	chronotype measurement
EFO:0004980	appendicular lean mass
EFO:0004833	neutrophil count
EFO:0007985	platelet crit
EFO:0004309	platelet count

MeSH disease descriptors (8)

Descriptor	Name	Tree numbers
D000741	Anemia, Aplastic	C15.378.050.085; C15.378.190.223.250
D029503	Anemia, Diamond-Blackfan	C15.378.050.085.080.090; C15.378.050.750.500; C15.378.190.223.500.500.090; C16.320.077.090
D006344	Heart Septal Defects, Atrial	C14.240.400.560.375; C14.280.400.560.375; C16.131.240.400.560.375
D006391	Hemangioma	C04.557.645.375
D008607	Intellectual Disability	C10.597.606.360; C23.888.592.604.646; F01.700.687; F03.625.539
D000081029	Pulmonary Arterial Hypertension	C08.381.423.847
C538442	Aase Smith syndrome 2 (supp.)
C567302	Diamond-Blackfan Anemia 1 (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Tetrachlorodibenzodioxin	affects cotreatment, increases expression, affects expression	4
Valproic Acid	affects expression, decreases methylation, increases expression	4
trichostatin A	affects cotreatment, decreases expression	2
Vorinostat	increases expression	2
Doxorubicin	decreases expression, affects response to substance	2
bisphenol F	increases methylation	1
methylmercuric chloride	decreases expression	1
2-methyl-4-isothiazolin-3-one	decreases expression	1
sodium arsenite	increases abundance, affects cotreatment, decreases expression	1
3,4,5,3’,4’-pentachlorobiphenyl	increases expression	1
manganese chloride	affects cotreatment, decreases expression, increases abundance	1
pentabromodiphenyl ether	decreases expression	1
entinostat	increases expression	1
4-chloro-N-((4-(1,1-dimethylethyl)phenyl)methyl)-3-ethyl-1-methyl-1H-pyrazole-5-carboxamide	decreases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
ICG 001	decreases expression	1
2,2’,4,4’-tetrabromodiphenyl ether	decreases expression	1
Grape Seed Proanthocyanidins	affects cotreatment, decreases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
Sunitinib	decreases expression	1
Air Pollutants	decreases expression, increases abundance	1
Arsenic	affects cotreatment, decreases expression, increases abundance	1
Catechin	affects cotreatment, decreases expression	1
Diuron	decreases expression	1
Estradiol	affects cotreatment, increases expression	1
Ethyl Methanesulfonate	decreases expression	1
Formaldehyde	decreases expression	1
Lead	affects expression	1
Manganese	affects cotreatment, decreases expression, increases abundance	1
Methyl Methanesulfonate	decreases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00673608	PHASE4	COMPLETED	Magnetic Resonance Imaging (MRI) Assessments of the Heart and Liver Iron Load in Patients With Transfusion Induced Iron Overload
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
NCT01908972	PHASE4	COMPLETED	The Safety and Efficiency of Propranolol as an Initial Treatment for Pediatric Hemangioma
NCT04077515	PHASE4	COMPLETED	Safety and Efficacy of Low-dose Sirolimus to Kaposiform Hemangioendothelioma
NCT00235391	PHASE3	COMPLETED	Expanded Access of Deferasirox to Patients With Congenital Disorders of Red Blood Cells and Chronic Iron Overload
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
NCT00312520	PHASE3	COMPLETED	Pulse Steroids Versus Oral Steroids in Problematic Hemangiomas of Infancy
NCT01685398	PHASE3	COMPLETED	Topical Timolol for Superficial Infantile Hemangioma
NCT01743885	PHASE3	TERMINATED	Efficacy and Safety of Propranolol Versus Acebutolol on the Proliferative Phase of Infantile Hemangioma
NCT02342275	PHASE3	COMPLETED	Efficacy and Safety of Propranolol Versus Atenolol on the Proliferative Phase of Infantile Hemangioma
NCT00001962	PHASE2	TERMINATED	A Study to Determine Whether Therapy With Daclizumab Will Benefit Patients With Bone Marrow Failure
NCT00011505	PHASE2	COMPLETED	Mobilization of Stem Cells With G-CSF for Collection From Patients With Diamond-Blackfan Anemia
NCT00301834	PHASE2	COMPLETED	Alemtuzumab, Fludarabine, and Busulfan Followed By Donor Stem Cell Transplant in Treating Young Patients With Hematologic Disorders
NCT00957931	PHASE2	COMPLETED	Allo-HCT MUD for Non-malignant Red Blood Cell (RBC) Disorders: Sickle Cell, Thal, and DBA: Reduced Intensity Conditioning, Co-tx MSCs
NCT01529827	PHASE2	COMPLETED	Fludarabine Phosphate, Melphalan, and Low-Dose Total-Body Irradiation Followed by Donor Peripheral Blood Stem Cell Transplant in Treating Patients With Hematologic Malignancies
NCT02386267	PHASE2	UNKNOWN	L-leucine in Diamond Blackfan Anemia Patients
NCT02512679	PHASE2	TERMINATED	Related Hematopoietic Stem Cell Transplantation (HSCT) for Genetic Diseases of Blood Cells
NCT03333486	PHASE2	TERMINATED	Fludarabine Phosphate, Cyclophosphamide, Total Body Irradiation, and Donor Stem Cell Transplant in Treating Patients With Blood Cancer
NCT04099966	PHASE2	RECRUITING	AlloSCT for Malignant and Non-malignant Hematologic Diseases Utilizing Alpha/Beta T Cell and CD19+ B Cell Depletion
NCT04965597	PHASE2	COMPLETED	Treosulfan-Based Conditioning Regimen Before a Blood or Bone Marrow Transplant for the Treatment of Bone Marrow Failure Diseases (BMT CTN 1904)
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
NCT00555464	PHASE2	TERMINATED	Clinical Trial of Vincristine vs. Prednisolone for Treatment of Complicated Hemangiomas
NCT01072045	PHASE2	COMPLETED	Comparative Study of the Use of Beta Blocker and Oral Corticosteroid in the Treatment of Infantile Hemangioma
NCT01074437	PHASE2	TERMINATED	Corticosteroids With Placebo Versus Corticosteroids With Propranolol Treatment of Infantile Hemangiomas (IH)
NCT02145884	PHASE2	COMPLETED	Topical Timolol Gel for the Treatment of Infantile Hemangiomas
NCT02731287	PHASE2	COMPLETED	Topical Timolol for Infantile Hemangioma in Early Proliferative Phase
NCT07477548	PHASE2	NOT_YET_RECRUITING	A Study to Evaluate the Efficacy and Safety of Everolimus in Patients With Teratment-refractory Vascular Anomalies
NCT01586455	PHASE1	COMPLETED	Human Placental-Derived Stem Cell Transplantation
NCT01917708	PHASE1	COMPLETED	Bone Marrow Transplant With Abatacept for Non-Malignant Diseases
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)