RDH14

Summary

RDH14 (retinol dehydrogenase 14, HGNC:19979) is a protein-coding gene on chromosome 2p24.2, encoding Retinol dehydrogenase 14 (Q9HBH5). Retinol dehydrogenase with a clear preference for NADP.

Enables all-trans-retinol dehydrogenase (NADP+) activity. Involved in osteoblast differentiation. Located in cytosol; endoplasmic reticulum; and nucleoplasm.

Source: NCBI Gene 57665 — RefSeq curated summary.

At a glance

• Gene–disease (curated): neurodevelopmental disorder (Limited, GenCC)
• GWAS associations: 25
• Clinical variants (ClinVar): 5 total
• MANE Select transcript: NM_020905

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:19979
Approved symbol	RDH14
Name	retinol dehydrogenase 14
Location	2p24.2
Locus type	gene with protein product
Status	Approved
Aliases	PAN2, SDR7C4
Ensembl gene	ENSG00000240857
Ensembl biotype	protein_coding
OMIM	616796
Entrez	57665

Gene structure

Transcript identifiers

Ensembl transcripts: 4 — 3 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000381249, ENST00000468071, ENST00000870568, ENST00000925506

RefSeq mRNA: 1 — MANE Select: NM_020905 NM_020905

CCDS: CCDS1693

Canonical transcript exons

ENST00000381249 — 2 exons

Exon	Start	End
ENSE00001487953	18554723	18555808
ENSE00001487954	18560180	18560653

Expression profiles

Bgee: expression breadth ubiquitous, 134 present calls, max score 93.31.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 12.5041 / max 64.0406, expressed in 1795 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
27048	11.6576	1791
27045	0.3328	170
27047	0.2768	151
27046	0.1286	53
27044	0.1082	26

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
heart left ventricle	UBERON:0002084	93.31	gold quality
lower esophagus muscularis layer	UBERON:0035833	92.87	gold quality
lower esophagus	UBERON:0013473	92.85	gold quality
heart	UBERON:0000948	92.79	gold quality
islet of Langerhans	UBERON:0000006	92.62	gold quality
right atrium auricular region	UBERON:0006631	92.57	gold quality
gastrocnemius	UBERON:0001388	92.13	gold quality
muscle of leg	UBERON:0001383	92.09	gold quality
skeletal muscle tissue	UBERON:0001134	92.01	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	92.00	gold quality
calcaneal tendon	UBERON:0003701	91.73	gold quality
muscle tissue	UBERON:0002385	91.65	gold quality
smooth muscle tissue	UBERON:0001135	91.59	gold quality
hindlimb stylopod muscle	UBERON:0004252	91.32	gold quality
thoracic aorta	UBERON:0001515	91.27	gold quality
ascending aorta	UBERON:0001496	91.25	gold quality
descending thoracic aorta	UBERON:0002345	91.08	gold quality
tibial artery	UBERON:0007610	91.08	gold quality
popliteal artery	UBERON:0002250	91.07	gold quality
right coronary artery	UBERON:0001625	90.87	gold quality
apex of heart	UBERON:0002098	90.86	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	90.77	gold quality
rectum	UBERON:0001052	90.60	gold quality
left coronary artery	UBERON:0001626	90.18	gold quality
mucosa of stomach	UBERON:0001199	90.13	gold quality
pancreas	UBERON:0001264	89.72	gold quality
urinary bladder	UBERON:0001255	89.59	gold quality
right adrenal gland cortex	UBERON:0035827	89.35	gold quality
left adrenal gland	UBERON:0001234	89.24	gold quality
right adrenal gland	UBERON:0001233	89.17	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

34 targeting RDH14, 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-4795-3P	100.00	74.62	4024
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-335-3P	99.93	73.36	4958
HSA-MIR-338-5P	99.92	72.34	2951
HSA-MIR-1297	99.91	73.41	3162
HSA-MIR-374A-5P	99.90	71.34	2923
HSA-MIR-374B-5P	99.90	69.98	2734
HSA-MIR-30A-3P	99.87	69.74	2928
HSA-MIR-30D-3P	99.87	69.92	2917
HSA-MIR-30E-3P	99.87	69.68	2942
HSA-MIR-26A-5P	99.78	73.52	2303
HSA-MIR-26B-5P	99.78	73.51	2305
HSA-MIR-4465	99.71	72.56	2096
HSA-MIR-3660	99.68	67.33	1149
HSA-MIR-4526	99.68	67.07	1136
HSA-MIR-4690-5P	99.65	66.24	813
HSA-MIR-4328	99.57	71.06	4094
HSA-MIR-12123	99.52	71.79	2990
HSA-MIR-5571-5P	99.49	66.99	1764
HSA-MIR-513A-3P	99.39	70.63	3620
HSA-MIR-513C-3P	99.39	70.63	3620
HSA-MIR-6719-3P	99.29	67.78	1387
HSA-MIR-664A-3P	99.22	71.08	2696
HSA-MIR-122B-3P	99.21	68.90	1333
HSA-MIR-21-3P	99.21	68.95	1312
HSA-MIR-9898	99.00	67.89	500
HSA-MIR-4733-5P	97.75	67.44	866

Literature-anchored findings (GeneRIF, showing 2)

• kinetic constants and expression pattern of PAN2 suggest that it is likely to function as a reductase in vivo and might contribute to the reduction of retinaldehyde to retinol in most human tissues (PMID:12435598)
• Biallelic inheritance in a single Pakistani family with intellectual disability implicates new candidate gene RDH14. (PMID:34848785)

Cross-species orthologs

10 orthologs

Organism	Symbol	Gene ID
danio_rerio	rdh14b	ENSDARG00000002467
danio_rerio	rdh14a	ENSDARG00000039299
mus_musculus	Rdh14	ENSMUSG00000020621
rattus_norvegicus	Rdh14	ENSRNOG00000039551
caenorhabditis_elegans		WBGENE00000971
caenorhabditis_elegans		WBGENE00000972
caenorhabditis_elegans		WBGENE00010762
caenorhabditis_elegans		WBGENE00017082
caenorhabditis_elegans		WBGENE00017131
caenorhabditis_elegans		WBGENE00017971

Paralogs (4): KDSR (ENSG00000119537), RDH13 (ENSG00000160439), DHRS13 (ENSG00000167536), DHRSX (ENSG00000169084)

Protein

Protein identifiers

Retinol dehydrogenase 14 — Q9HBH5 (reviewed: Q9HBH5)

Alternative names: Alcohol dehydrogenase PAN2, Short chain dehydrogenase/reductase family 7C member 4

All UniProt accessions (2): Q9HBH5, Q53RX3

UniProt curated annotations — full annotation on UniProt →

Function. Retinol dehydrogenase with a clear preference for NADP. Displays high activity towards 9-cis, 11-cis and all-trans-retinol. Shows a very weak activity towards 13-cis-retinol. Has no activity towards steroid.

Tissue specificity. Widely expressed.

Pathway. Cofactor metabolism; retinol metabolism.

Miscellaneous. Shows clear specificity for the pro-S hydrogen on C4 of NADPH and the pro-R hydrogen on C15 of retinols.

Similarity. Belongs to the short-chain dehydrogenases/reductases (SDR) family.

RefSeq proteins (1): NP_065956* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR002347	SDR_fam	Family
IPR036291	NAD(P)-bd_dom_sf	Homologous_superfamily

Pfam: PF00106

Enzyme classification (BRENDA):

• EC 1.1.1.300 — NADP-retinol dehydrogenase (BRENDA: 11 organisms, 101 substrates, 7 inhibitors, 67 Km, 12 kcat entries)
• EC 1.1.1.71 — alcohol dehydrogenase [NAD(P)+] (BRENDA: 35 organisms, 306 substrates, 52 inhibitors, 108 Km, 49 kcat entries)

Substrate kinetics (BRENDA)

53 substrates with measured Km, best-characterized 15. Km ranges are aggregated across organisms/conditions.

Substrate	Km (mM)	Measurements
ALL-TRANS-RETINAL	0.0001–0.5	19
NADPH	0.0008–0.52	17
NADP+	0.02–0.65	14
NADPH	0.0005–0.23	10
NADP+	0.0004–0.8	9
ACETALDEHYDE	1.3–9.2	8
NADH	0.011–1200	8
BUTANAL	0.006–9.5	7
ALL-TRANS-RETINOL	0.0006–1.3	6
NAD+	0.03–1060	6
ETHANOL	44–4790	5
NADH	2.22–1300	4
ALL-TRANS-3-HYDROXYRETINAL	0.0032–0.0044	3
ESTRONE	0.0096–0.0307	3
NAD+	0.004–680	3

Catalyzed reactions (Rhea), 3 shown:

• all-trans-retinol + NADP(+) = all-trans-retinal + NADPH + H(+) (RHEA:25033)
• 11-cis-retinol + NADP(+) = 11-cis-retinal + NADPH + H(+) (RHEA:54912)
• 9-cis-retinol + NADP(+) = 9-cis-retinal + NADPH + H(+) (RHEA:54916)

UniProt features (5 total): binding site 2, chain 1, active site 1, modified residue 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9HBH5-F1	88.26	0.73

Functional residue map

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

Catalytic / active sites (1): 217 (proton acceptor)

Ligand- & substrate-binding residues (2): 50–56; 192

Post-translational modifications (1): 5

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-5365859	RA biosynthesis pathway

MSigDB gene sets: 365 (showing top): TGGTGCT_MIR29A_MIR29B_MIR29C, E2F_Q4, CREL_01, E2F_Q4_01, GOMF_RNA_NUCLEASE_ACTIVITY, BUYTAERT_PHOTODYNAMIC_THERAPY_STRESS_DN, GOBP_P_BODY_ASSEMBLY, E2F4DP1_01, GOBP_REGULATION_OF_MRNA_CATABOLIC_PROCESS, GOCC_VACUOLAR_MEMBRANE, GOMF_NUCLEASE_ACTIVITY, BOYAULT_LIVER_CANCER_SUBCLASS_G2, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, GOBP_REGULATION_OF_HORMONE_LEVELS

GO Biological Process (3): osteoblast differentiation (GO:0001649), lipid metabolic process (GO:0006629), retinol metabolic process (GO:0042572)

GO Molecular Function (5): all-trans-retinol dehydrogenase (NADP+) activity (GO:0052650), 11-cis-retinol dehydrogenase (NADP+) activity (GO:0102354), protein binding (GO:0005515), alcohol dehydrogenase (NADP+) activity (GO:0008106), oxidoreductase activity (GO:0016491)

GO Cellular Component (7): nucleus (GO:0005634), nucleoplasm (GO:0005654), lysosomal membrane (GO:0005765), endoplasmic reticulum (GO:0005783), endoplasmic reticulum membrane (GO:0005789), cytosol (GO:0005829), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Signaling by Retinoic Acid	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
alcohol dehydrogenase (NADP+) activity	2
intracellular membrane-bounded organelle	2
cytoplasm	2
ossification	1
cell differentiation	1
primary metabolic process	1
retinoid metabolic process	1
primary alcohol metabolic process	1
hormone metabolic process	1
olefinic compound metabolic process	1
retinol metabolic process	1
binding	1
alcohol dehydrogenase [NAD(P)+] activity	1
catalytic activity	1
nuclear lumen	1
lysosome	1
lytic vacuole membrane	1
endomembrane system	1
organelle membrane	1
nuclear outer membrane-endoplasmic reticulum membrane network	1
endoplasmic reticulum subcompartment	1

Protein interactions and networks

STRING

3247 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
RDH14	DHRS3	O75911	647
RDH14	SDR9C7	Q8NEX9	611
RDH14	LRAT	O95237	464
RDH14	BCO2	Q9BYV7	428
RDH14	BCO1	Q9HAY6	408
RDH14	SDR16C5	Q8N3Y7	401
RDH14	RBP2	P50120	400
RDH14	RBP1	P09455	396
RDH14	RPE65	Q16518	392
RDH14	STRA6	Q9BX79	389
RDH14	RGR	P47804	369
RDH14	RDH8	Q9NYR8	369
RDH14	C1orf50	Q9BV19	367
RDH14	RLBP1	P12271	356
RDH14	RDH10	Q8IZV5	355

IntAct

53 interactions, top by confidence:

A	B	Type	Score
CDC20	BUB1B	psi-mi:“MI:0914”(association)	0.980
TAB1	MAP3K7	psi-mi:“MI:0914”(association)	0.900
TRDN	TMEM223	psi-mi:“MI:0914”(association)	0.640
C3AR1	TMEM120B	psi-mi:“MI:0914”(association)	0.530
TSPAN3	MAP1LC3B2	psi-mi:“MI:0914”(association)	0.530
RNF170	ERLIN1	psi-mi:“MI:0914”(association)	0.530
BRINP2	ATP5MC1	psi-mi:“MI:0914”(association)	0.530
PBXIP1	GOLIM4	psi-mi:“MI:0914”(association)	0.530
MRAP2	GOLIM4	psi-mi:“MI:0914”(association)	0.530
TSPAN5	SC5D	psi-mi:“MI:0914”(association)	0.530
RDH14	METAP2	psi-mi:“MI:0915”(physical association)	0.500
	ESYT2	psi-mi:“MI:0914”(association)	0.350
PACC1	DEGS1	psi-mi:“MI:0914”(association)	0.350
TACR1	GPR89A	psi-mi:“MI:0914”(association)	0.350
TSPAN5	KLHL2	psi-mi:“MI:0914”(association)	0.350
MRAP2	GOSR1	psi-mi:“MI:0914”(association)	0.350
NMES1	NDUFS8	psi-mi:“MI:0914”(association)	0.350
COQ9	NDUFS8	psi-mi:“MI:0914”(association)	0.350
COQ9	ACOT7	psi-mi:“MI:0914”(association)	0.350
	TMEM223	psi-mi:“MI:0914”(association)	0.350
TTMP	TMEM223	psi-mi:“MI:0914”(association)	0.350
PCDHA8	TMEM223	psi-mi:“MI:0914”(association)	0.350

BioGRID (67): RDH14 (Affinity Capture-MS), RDH14 (Affinity Capture-MS), RDH14 (Affinity Capture-MS), RDH14 (Affinity Capture-MS), RDH14 (Affinity Capture-MS), RDH14 (Affinity Capture-MS), RDH14 (Affinity Capture-MS), RDH14 (Affinity Capture-MS), RDH14 (Affinity Capture-MS), RDH14 (Affinity Capture-MS), RDH14 (Affinity Capture-MS), RDH14 (Affinity Capture-MS), RDH14 (Affinity Capture-MS), RDH14 (Affinity Capture-MS), RDH14 (Affinity Capture-MS)

ESM2 similar proteins: A0A0H3KNE7, A0A3Q8GL18, A0A3Q8GLE8, A0A3Q8GYY4, A0A7N9VSG0, A0A7T8F1N2, A0A8F5XX49, A0A8I6GJ95, A0AAT9JA24, A5W4G5, A8C7R7, B8A5W4, D4A2B7, E9Q3D4, E9QUT3, G4N290, O35048, P0C622, P14061, P23102, P37440, P51656, P51661, P9WES5, P9WGQ2, P9WGQ3, Q08632, Q13268, Q17QU7, Q17QW3, Q4WR19, Q5C9I9, Q5R9W5, Q5SS80, Q7FAE1, Q7ZY31, Q8SPU8, Q8VBZ0, Q8XBJ4, Q91WL8

Diamond homologs: A0A017SEY2, A0A023I4F1, A0A0C6DRT7, A0A1B7YCL6, A0A2P1DP77, A0A345BJN5, A0A482ND39, A0A4P8DJW5, A0A5B8YU33, A0AAW1NHX6, A2RVM0, B2X050, B6H062, B6HLP6, B8M9L2, C8V3Y7, D7UQ42, F4JJR8, G1XTZ5, G3Y422, G4MVZ5, G9N4A1, G9N4A6, I1S2J3, O48741, O75828, O80333, P00335, P0DXW2, P15428, P16232, P19992, P21218, P28845, P42317, P50199, P50203, P51975, P70684, P9WEF8

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	5
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

5327 predictions. Top by Δscore:

Variant	Effect	Δscore
12:56318236:CT:C	donor_gain	1.0000
12:56319180:ACC:A	acceptor_loss	1.0000
12:56319181:CCT:C	acceptor_loss	1.0000
12:56319183:T:C	acceptor_loss	1.0000
12:56319330:T:TA	donor_gain	1.0000
12:56319352:CAAA:C	donor_gain	1.0000
12:56319385:G:C	donor_gain	1.0000
12:56320017:CTTGA:C	acceptor_gain	1.0000
12:56320018:TTGA:T	acceptor_gain	1.0000
12:56320019:TGA:T	acceptor_gain	1.0000
12:56320020:GA:G	acceptor_gain	1.0000
12:56320021:AC:A	acceptor_loss	1.0000
12:56320022:C:CC	acceptor_gain	1.0000
12:56320022:CTAG:C	acceptor_loss	1.0000
12:56322071:CACT:C	donor_loss	1.0000
12:56322072:ACTTA:A	donor_loss	1.0000
12:56322073:CT:C	donor_loss	1.0000
12:56322074:TTACT:T	donor_loss	1.0000
12:56322075:TACTG:T	donor_loss	1.0000
12:56322076:A:AC	donor_gain	1.0000
12:56322076:A:T	donor_loss	1.0000
12:56322077:C:CA	donor_gain	1.0000
12:56322077:CT:C	donor_gain	1.0000
12:56322077:CTG:C	donor_gain	1.0000
12:56322077:CTGT:C	donor_gain	1.0000
12:56322077:CTGTT:C	donor_gain	1.0000
12:56322164:TCATG:T	acceptor_gain	1.0000
12:56322165:CATG:C	acceptor_gain	1.0000
12:56322165:CATGC:C	acceptor_gain	1.0000
12:56322166:ATGC:A	acceptor_loss	1.0000

AlphaMissense

2164 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
2:18555447:G:A	T252I	0.999
2:18555540:T:A	K221I	0.999
2:18555218:A:C	S328R	0.997
2:18555218:A:T	S328R	0.997
2:18555220:T:G	S328R	0.997
2:18555336:A:C	L289W	0.997
2:18555542:G:C	S220R	0.997
2:18555542:G:T	S220R	0.997
2:18555544:T:G	S220R	0.997
2:18555630:G:A	S191F	0.997
2:18555710:G:C	N164K	0.997
2:18555710:G:T	N164K	0.997
2:18555537:A:G	L222P	0.996
2:18555553:A:G	Y217H	0.996
2:18555703:C:A	G167W	0.996
2:18555772:C:A	G144W	0.996
2:18555371:T:A	K277N	0.995
2:18555371:T:G	K277N	0.995
2:18555535:C:G	A223P	0.995
2:18555627:G:A	S192F	0.995
2:18555628:A:G	S192P	0.995
2:18555630:G:T	S191Y	0.995
2:18555695:A:C	F169L	0.995
2:18555695:A:T	F169L	0.995
2:18555697:A:G	F169L	0.995
2:18560425:C:A	G50W	0.995
2:18555231:A:G	L324P	0.994
2:18555293:A:C	F303L	0.994
2:18555293:A:T	F303L	0.994
2:18555295:A:G	F303L	0.994

dbSNP variants (sampled 300 via entrez): RS1000108601 (2:18562599 G>A), RS1000390528 (2:18556620 G>C), RS1001092360 (2:18560291 G>A,C,T), RS1001519112 (2:18556537 A>G), RS1001896834 (2:18557069 T>C,G), RS1002206052 (2:18562041 T>C), RS1002497240 (2:18560847 G>A), RS1003009387 (2:18558345 T>C), RS1003106671 (2:18558387 A>G), RS1003160446 (2:18559082 G>A), RS1003494665 (2:18560318 A>T), RS1003848628 (2:18561890 T>C), RS1004442492 (2:18556155 T>C), RS1004794360 (2:18555952 A>G), RS1004830312 (2:18557974 C>G)

Disease associations

OMIM: gene MIM:616796 | disease phenotypes:

GenCC curated gene-disease

Disease	Classification	Inheritance
neurodevelopmental disorder	Limited	Autosomal recessive

Mondo (1): neurodevelopmental disorder (MONDO:0700092)

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

25 associations (top):

Study	Trait	p-value
GCST002828_10	Urate levels in obese individuals	2.000000e-06
GCST003991_8	Childhood ear infection	2.000000e-10
GCST007344_14	Estimated glomerular filtration rate	1.000000e-08
GCST007429_61	Lung function (FVC)	1.000000e-16
GCST007429_62	Lung function (FVC)	2.000000e-17
GCST007430_22	Peak expiratory flow	9.000000e-13
GCST007432_38	FEV1	1.000000e-17
GCST007432_39	FEV1	3.000000e-17
GCST008058_64	Estimated glomerular filtration rate	1.000000e-25
GCST008059_56	Estimated glomerular filtration rate	4.000000e-25
GCST008747_67	Estimated glomerular filtration rate	4.000000e-13
GCST008839_142	Height	6.000000e-10
GCST009391_96	Metabolite levels	4.000000e-06
GCST010059_6	Physiological traits	4.000000e-06
GCST010697_8	Cortical surface area (min-P)	9.000000e-11
GCST010698_76	Subcortical volume (min-P)	6.000000e-13
GCST010699_22	Brain morphology (min-P)	9.000000e-10
GCST010700_49	Cortical thickness (MOSTest)	2.000000e-10
GCST010701_21	Cortical surface area (MOSTest)	1.000000e-76
GCST010702_13	Subcortical volume (MOSTest)	4.000000e-08
GCST010703_331	Brain morphology (MOSTest)	2.000000e-10
GCST011346_8	Total cholesterol levels	3.000000e-12
GCST011347_9	Low density lipoprotein cholesterol levels	1.000000e-16
GCST011584_4	Metastatic colorectal cancer survival in treatment with chemotherapy plus biologics	5.000000e-06
GCST012490_479	Femur bone mineral density x serum urate levels interaction	1.000000e-09

EFO canonical traits (13, from GWAS)

EFO ID	Trait name
EFO:0004531	urate measurement
EFO:0007904	susceptibility to childhood ear infection measurement
EFO:0004312	vital capacity
EFO:0009718	peak expiratory flow
EFO:0004314	forced expiratory volume
EFO:0010473	cyclic adenosine monophosphate measurement
EFO:0005937	longitudinal BMI measurement
EFO:0004346	neuroimaging measurement
EFO:0004840	cortical thickness
EFO:0004574	total cholesterol measurement
EFO:0004611	low density lipoprotein cholesterol measurement
EFO:0000714	survival time
EFO:1001480	metastatic colorectal cancer

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D065886	Neurodevelopmental Disorders	F03.625

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	decreases expression	2
2,4,6-tribromophenol	decreases expression	1
triphenyl phosphate	affects expression	1
bisphenol A	affects cotreatment, increases expression	1
deoxynivalenol	increases expression	1
decabromobiphenyl ether	decreases expression	1
sodium arsenite	decreases expression	1
tetrabromobisphenol A	decreases expression	1
di-n-butylphosphoric acid	affects expression	1
CGP 52608	affects binding, increases reaction	1
abrine	increases expression	1
pentabrominated diphenyl ether 100	decreases expression	1
hexabrominated diphenyl ether 153	decreases expression	1
bisphenol AF	increases expression	1
Arsenic	affects methylation	1
Benzo(a)pyrene	affects methylation	1
Carbamazepine	affects expression	1
Dexamethasone	increases expression, affects cotreatment	1
Formaldehyde	decreases expression	1
Hydrogen Peroxide	decreases expression	1
Indomethacin	affects cotreatment, increases expression	1
Ivermectin	decreases expression	1
NADP	affects binding, increases activity	1
Phthalic Acids	increases methylation	1
Silver	decreases expression	1
Valproic Acid	affects expression	1
1-Methyl-3-isobutylxanthine	affects cotreatment, increases expression	1
Cadmium Chloride	decreases expression	1
Copper Sulfate	decreases expression	1
tert-Butylhydroperoxide	increases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT04586348	PHASE4	UNKNOWN	Prenatal Iodine Supplementation and Early Childhood Neurodevelopment
NCT04873115	PHASE4	UNKNOWN	Double-blind, Placebo-controlled, Randomized Clinical Trial Comparing the Efficacy and Safety of Sialanar Plus orAl rehabiLitation Against Placebo Plus Oral Rehabilitation for chIldren and Adolescents With seVere Sialorrhoea and Neurodisabilties,
NCT02559102	PHASE3	COMPLETED	Dexmedetomidine Sedation Versus General Anaesthesia for Inguinal Hernia Surgery in Infants
NCT02757079	PHASE3	COMPLETED	Study of the Efficacy and Safety of NPC-15 for Sleep Disorders of Children With Neurodevelopmental Disorders
NCT06915480	PHASE3	RECRUITING	Reducing Missed Appointments
NCT07377032	PHASE3	RECRUITING	TAP-GRIN: Interventional Study on Patients With GRIN-related Neurodevelopmental Disorders
NCT02909959	PHASE2	COMPLETED	Sulforaphane for the Treatment of Young Men With Autism Spectrum Disorder
NCT06081348	PHASE2	RECRUITING	Sertraline vs. Placebo in the Treatment of Anxiety in Children and AdoLescents With NeurodevelopMental Disorders
NCT06352372	PHASE2	COMPLETED	Safety and Efficacy of tPBM for Epileptiform Activity in Autism
NCT00503191	PHASE1	COMPLETED	NeuroModulation Technique Treatment of Autism
NCT04475848	PHASE1	COMPLETED	A Study to Investigate the Safety, Tolerability, Pharmacokinetics, Pharmacodynamics and Food Effect of RO6953958 in Healthy Participants
NCT06300398	PHASE1	COMPLETED	IAMA-6 Oral Dose Study in Healthy Adults
NCT01783041	PHASE2/PHASE3	COMPLETED	Effect of Early L-Carnitine Supplementation on Neurodevelopmental Outcomes in Very Preterm Infants
NCT05767385	PHASE2/PHASE3	RECRUITING	Fetal Cerebrovascular Autoregulation in Congenital Heart Disease and Association With Neonatal Neurobehavior
NCT05675098	EARLY_PHASE1	NOT_YET_RECRUITING	Central Nervous System Stimulants and Physical Function in Children With Cerebral Palsy
NCT00783783	Not specified	COMPLETED	CYP2D6 Pharmacogenetics in Risperidone-Treated Children
NCT01778504	Not specified	RECRUITING	Studying Childhood-onset Behavioral, Psychiatric, and Developmental Disorders
NCT01850784	Not specified	UNKNOWN	High Energy Formula Feeding in Infants With Congenital Heart Disease
NCT01922791	Not specified	COMPLETED	Nutrition and Pregnancy Intervention Study
NCT01942525	Not specified	UNKNOWN	Influence of Intrauterine Growth Restriction on Amplitude-integrated EEG in Preterm Infants
NCT02003170	Not specified	COMPLETED	Etiology and Early Diagnosis of Neurodevelopmental Disorders
NCT02118649	Not specified	ACTIVE_NOT_RECRUITING	Enhancing Behavior and Brain Response to Visual Targets Using a Computer Game
NCT02557191	Not specified	TERMINATED	Biomarkers, Neurodevelopment and Preterm Infants
NCT02690675	Not specified	COMPLETED	Iron Supplement Effect on Child Development
NCT02694003	Not specified	COMPLETED	Better Nights, Better Days for Children With Neurodevelopment Disorders
NCT02792894	Not specified	COMPLETED	Family Networks (FaNs) for Children With Developmental Disorders and Delays
NCT02871674	Not specified	UNKNOWN	Good Night Project: Behavioural Sleep Interventions for Children With ADHD: A Randomised Controlled Trial
NCT02887157	Not specified	COMPLETED	Analyzing Retinal Microanatomy in ROP
NCT02898298	Not specified	COMPLETED	Positive Emotion Regulation Training in Children, Adolescents and Young Adults With and Without Developmental Disorder
NCT02912780	Not specified	UNKNOWN	Introduction of Microsystems in a Level 3 Neonatal Intensive Care Unit
NCT03023293	Not specified	COMPLETED	n-3 PUFAs, Irisin and Maternal Glucose Metabolism From Pregnancy to Postpartum
NCT03023644	Not specified	COMPLETED	Improving Neurodevelopmental Outcomes in Children With Congenital Heart Disease: An Intervention Study
NCT03032991	Not specified	UNKNOWN	Early Biomarkers of Neurodevelopment in Offspring of Diabetic Mothers
NCT03088189	Not specified	TERMINATED	Effect of Parental Peri-conceptional Vitamin B12 Supplementation on Infant Neurocognitive Development in Offspring
NCT03096028	Not specified	COMPLETED	Developmental Origins of Mental Health Disorders
NCT03148782	Not specified	COMPLETED	Brain Plasticity Underlying Acquisition of New Organizational Skills in Children-R61 Phase
NCT03172104	Not specified	COMPLETED	Neurobehavioural Development of Infants Born <30 Weeks Gestational Age Between Birth and Five Years of Age
NCT03222375	Not specified	RECRUITING	SQUED™ Series 28.1 Home-use and Treatment of Autowave Reverberator of Autism
NCT03229928	Not specified	COMPLETED	Clinical Testing of a Real-Time Behavior Measurement Tool: Measuring Outcomes for CHAnge
NCT03232489	Not specified	UNKNOWN	Study for the Evaluation of the Feasibility of Applying Advanced MRI Scanning in Pediatric Clinical Practice