HYLS1

Summary

HYLS1 (HYLS1 centriolar and ciliogenesis associated, HGNC:26558) is a protein-coding gene on chromosome 11q24.2, encoding Centriolar and ciliogenesis-associated protein HYLS1 (Q96M11). Plays a role in ciliogenesis.

This gene encodes a protein localized to the cytoplasm. Mutations in this gene are associated with hydrolethalus syndrome. Multiple alternatively spliced variants, encoding the same protein, have been identified.

Source: NCBI Gene 219844 — RefSeq curated summary.

At a glance

• Gene–disease (curated): hydrolethalus syndrome 1 (Definitive, GenCC) — +2 more curated relationships
• GWAS associations: 2
• Clinical variants (ClinVar): 380 total — 8 pathogenic, 21 likely-pathogenic
• Phenotypes (HPO): 93
• Dosage sensitivity (ClinGen): haploinsufficiency autosomal recessive, triplosensitivity unscored
• MANE Select transcript: NM_001134793

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:26558
Approved symbol	HYLS1
Name	HYLS1 centriolar and ciliogenesis associated
Location	11q24.2
Locus type	gene with protein product
Status	Approved
Aliases	FLJ32915
Ensembl gene	ENSG00000198331
Ensembl biotype	protein_coding
OMIM	610693
Entrez	219844

Gene structure

Transcript identifiers

Ensembl transcripts: 6 — 6 protein_coding

ENST00000356438, ENST00000425380, ENST00000526028, ENST00000906688, ENST00000906689, ENST00000937420

RefSeq mRNA: 9 — MANE Select: NM_001134793 NM_001134793, NM_001377269, NM_001377270, NM_001424364, NM_001424366, NM_001424369, NM_001424370, NM_001424371, NM_145014

CCDS: CCDS8467

Canonical transcript exons

ENST00000425380 — 3 exons

Exon	Start	End
ENSE00001093724	125891423	125891472
ENSE00001776754	125887668	125887765
ENSE00002193265	125899344	125900646

Expression profiles

Bgee: expression breadth ubiquitous, 205 present calls, max score 98.40.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 12.7965 / max 576.1547, expressed in 1722 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
117479	12.6002	1720
117478	0.1963	82

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
oocyte	CL:0000023	98.40	gold quality
secondary oocyte	CL:0000655	97.41	gold quality
sperm	CL:0000019	93.11	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	91.70	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	90.00	gold quality
right testis	UBERON:0004534	88.11	gold quality
left testis	UBERON:0004533	87.84	gold quality
testis	UBERON:0000473	87.68	gold quality
ventricular zone	UBERON:0003053	84.04	gold quality
ileal mucosa	UBERON:0000331	83.66	gold quality
ganglionic eminence	UBERON:0004023	82.55	gold quality
cortical plate	UBERON:0005343	81.18	gold quality
adult organism	UBERON:0007023	79.88	gold quality
prefrontal cortex	UBERON:0000451	79.18	gold quality
middle temporal gyrus	UBERON:0002771	78.88	gold quality
Brodmann (1909) area 9	UBERON:0013540	78.77	gold quality
cerebellar hemisphere	UBERON:0002245	78.74	gold quality
cerebellar cortex	UBERON:0002129	78.69	gold quality
stromal cell of endometrium	CL:0002255	78.41	gold quality
smooth muscle tissue	UBERON:0001135	78.40	gold quality
cerebellum	UBERON:0002037	78.39	gold quality
primary visual cortex	UBERON:0002436	78.33	gold quality
granulocyte	CL:0000094	78.20	gold quality
Brodmann (1909) area 23	UBERON:0013554	77.92	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	77.83	gold quality
right hemisphere of cerebellum	UBERON:0014890	77.78	gold quality
mucosa of transverse colon	UBERON:0004991	77.50	gold quality
frontal cortex	UBERON:0001870	77.49	gold quality
neocortex	UBERON:0001950	77.36	gold quality
right frontal lobe	UBERON:0002810	76.96	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	3.36

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

21 targeting HYLS1, 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-4482-3P	99.98	72.50	3147
HSA-MIR-891B	99.59	69.81	1083
HSA-MIR-513C-5P	99.50	68.42	1730
HSA-MIR-514B-5P	99.50	68.19	1766
HSA-MIR-302B-5P	99.50	69.49	1857
HSA-MIR-1276	99.36	68.18	1642
HSA-MIR-3688-5P	99.12	69.67	1091
HSA-MIR-371A-5P	99.08	66.51	1914
HSA-MIR-452-3P	99.01	66.25	1241
HSA-MIR-9500	98.62	66.54	1845
HSA-MIR-3135B	98.61	65.33	1470
HSA-MIR-3689A-5P	98.35	70.12	1049
HSA-MIR-3689B-5P	98.35	70.12	1049
HSA-MIR-3689E	98.35	70.12	1049
HSA-MIR-3689F	98.35	70.08	1052
HSA-MIR-1279	97.83	67.50	1898
HSA-MIR-4700-3P	97.74	68.64	1014
HSA-MIR-1287-5P	96.80	65.30	743
HSA-MIR-7160-3P	96.40	64.15	462
HSA-MIR-1238-5P	94.82	67.52	493
HSA-MIR-4758-5P	94.82	67.06	499

Functional genomics

ClinGen dosage: haploinsufficiency 30 (autosomal recessive), triplosensitivity Not yet evaluated (unscored). ClinGen Gene Dosage Map

Literature-anchored findings (GeneRIF, showing 3)

• Despite variation in the clinicopathologic phenotype, all cases in the series carried the same homozygous missense mutation in HYLS1 (PMID:18648327)
• The homozygous mutation of the hydrolethalus syndrome 1 gene (HYLS1) was identified in a consanguinity family in a 17 year old male and his 11 year old younger brother. (PMID:26830932)
• The first two non-Finnish HYLS1 variants: Expanding the phenotypic spectrum of hydrolethalus syndrome. (PMID:34212369)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	hyls1	ENSDARG00000098623
mus_musculus	Hyls1	ENSMUSG00000050555
rattus_norvegicus	Hyls1	ENSRNOG00000012980

Protein

Protein identifiers

Centriolar and ciliogenesis-associated protein HYLS1 — Q96M11 (reviewed: Q96M11)

Alternative names: Hydrolethalus syndrome protein 1

All UniProt accessions (1): Q96M11

UniProt curated annotations — full annotation on UniProt →

Function. Plays a role in ciliogenesis.

Subcellular location. Cytoplasm. Cell projection. Cilium. Cytoskeleton. Microtubule organizing center. Centrosome. Centriole.

Disease relevance. Hydrolethalus syndrome 1 (HLS1) [MIM:236680] A lethal syndrome characterized by polydactyly, central nervous system malformation, and hydrocephalus. The polydactyly is postaxial in the hands and preaxial in the feet. A highly characteristic hallux duplex is seen in almost no other situation. In half of the cases, a large atrioventricular communis defect of the heart is found. The pregnancy is characterized by hydramnios, which is often massive, and by preterm delivery. The disease is caused by variants affecting the gene represented in this entry. Defects in HYLS1 may be involved in ciliopathies other than hydrolethalus syndrome 1. A homozygous mutation resulting in a C-terminal extension of 11 residues has been found in patients diagnosed as Joubert syndrome, a ciliopathy presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy and renal disease.

Similarity. Belongs to the HYLS1 family.

RefSeq proteins (11): NP_001128265, NP_001364198, NP_001364199, NP_001411293, NP_001411295, NP_001411296, NP_001411297, NP_001411298, NP_001411299, NP_001411300, NP_659451 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR026227	HYLS1	Family
IPR027918	HYLS1_C_dom	Domain
IPR052319	Centriolar_ciliogenesis_assoc	Family

Pfam: PF15311

UniProt features (4 total): sequence variant 2, chain 1, modified residue 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q96M11-F1	66.11	0.10

Functional residue map

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

Post-translational modifications (1): 179

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 294 (showing top): RODRIGUES_THYROID_CARCINOMA_ANAPLASTIC_UP, RODRIGUES_THYROID_CARCINOMA_POORLY_DIFFERENTIATED_UP, GOCC_MICROTUBULE_ORGANIZING_CENTER, GOBP_CILIUM_ORGANIZATION, GOCC_CENTROSOME, GOBP_ORGANELLE_ASSEMBLY, LASTOWSKA_NEUROBLASTOMA_COPY_NUMBER_DN, FISCHER_DREAM_TARGETS, GOBP_CELL_PROJECTION_ORGANIZATION, GOCC_CENTRIOLE, NUYTTEN_EZH2_TARGETS_DN, GOCC_CILIUM, GEORGES_TARGETS_OF_MIR192_AND_MIR215, chr11q24, TOYOTA_TARGETS_OF_MIR34B_AND_MIR34C

GO Biological Process (2): cilium assembly (GO:0060271), cell projection organization (GO:0030030)

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

GO Cellular Component (10): nucleus (GO:0005634), cytoplasm (GO:0005737), centrosome (GO:0005813), centriole (GO:0005814), cytosol (GO:0005829), plasma membrane (GO:0005886), cilium (GO:0005929), non-motile cilium (GO:0097730), cytoskeleton (GO:0005856), cell projection (GO:0042995)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
microtubule organizing center	2
intracellular membraneless organelle	2
axoneme assembly	1
intraciliary transport involved in cilium assembly	1
cilium organization	1
protein localization to cilium	1
organelle assembly	1
trans-Golgi to periciliary membrane compartment transport	1
plasma membrane bounded cell projection assembly	1
ciliary transition zone assembly	1
cellular component organization	1
binding	1
intracellular membrane-bounded organelle	1
intracellular anatomical structure	1
centriole	1
cytoplasm	1
membrane	1
cell periphery	1
intraciliary transport particle	1
membrane-bounded organelle	1
plasma membrane bounded cell projection	1
cilium	1

Protein interactions and networks

STRING

434 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
HYLS1	DDX25	Q9UHL0	943
HYLS1	PKNOX2	Q96KN3	907
HYLS1	CPAP	Q9HC77	829
HYLS1	FBF1	Q8TES7	587
HYLS1	KIF7	Q2M1P5	576
HYLS1	C2CD3	Q4AC94	524
HYLS1	B9D1	Q9UPM9	508
HYLS1	SCLT1	Q96NL6	488
HYLS1	OFD1	O75665	480
HYLS1	SPICE1	Q8N0Z3	477
HYLS1	XKR8	Q9H6D3	446
HYLS1	CEP44	Q9C0F1	440
HYLS1	CEP120	Q8N960	426
HYLS1	KIAA0586	Q9BVV6	423
HYLS1	CEP83	Q9Y592	406

IntAct

10 interactions, top by confidence:

A	B	Type	Score
HYLS1	GOLGA2	psi-mi:“MI:0915”(physical association)	0.560
GOLGA2	HYLS1	psi-mi:“MI:0915”(physical association)	0.560
HYLS1	IDE	psi-mi:“MI:0914”(association)	0.530
HYLS1	CEP120	psi-mi:“MI:0915”(physical association)	0.400
HYLS1		psi-mi:“MI:0915”(physical association)	0.370
rep	SBNO1	psi-mi:“MI:0914”(association)	0.350
HYLS1	ERG28	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (9): HYLS1 (Two-hybrid), IDE (Affinity Capture-MS), IDE (Affinity Capture-MS), HAUS8 (Affinity Capture-MS), C14orf1 (Two-hybrid), HYLS1 (Affinity Capture-MS), IDE (Affinity Capture-MS), HAUS8 (Affinity Capture-MS), CEP120 (Affinity Capture-MS)

ESM2 similar proteins: A0A1B0GTD5, A0A1B0GUX0, A0A1B0GVH7, A0A3Q1LFK7, A0A3Q1MT14, A2BFC9, A4QMS7, A6NJV1, A6NL82, A8QW39, B0UXH9, B5X5D0, B9EJX3, E1B9R1, F1MMV1, F1P3Y5, Q1JPL0, Q2KI52, Q32KQ1, Q32L72, Q32P67, Q3SZR5, Q4R2Y2, Q5BN45, Q5BN46, Q5NC57, Q5RHU7, Q5SUV2, Q5SVJ3, Q5VZQ5, Q69CM7, Q6AYM0, Q6NXP0, Q6P3G4, Q6ZVS7, Q8CDT5, Q8CDU5, Q8N7U6, Q8N865, Q8ND61

Diamond homologs: A0A1L8ER70, Q2KI52, Q4R2Y2, Q96M11, Q9CXX0, Q95X94

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	8
Likely pathogenic	21
Uncertain significance	166
Likely benign	156
Benign	13

Top pathogenic / likely-pathogenic (29)

Variant ID	HGVS	Classification
1143	NM_031307.4(PUS3):c.-47+3170T>C	Pathogenic
1683866	NM_001134793.2(HYLS1):c.-25-3061A>G	Pathogenic
2021462	NM_031307.4(PUS3):c.78_79del (p.Arg27fs)	Pathogenic
2444715	NM_001134793.2(HYLS1):c.-25-3062C>G	Pathogenic
253169	NM_031307.4(PUS3):c.1303C>T (p.Arg435Ter)	Pathogenic
2682259	NM_031307.4(PUS3):c.438_442del (p.Asn146fs)	Pathogenic
2907421	NM_031307.4(PUS3):c.55C>T (p.Arg19Ter)	Pathogenic
3342342	NM_001134793.2(HYLS1):c.-25-3153G>A	Pathogenic
1324973	NM_031307.4(PUS3):c.17_18del (p.Thr6fs)	Likely pathogenic
2230592	NM_031307.4(PUS3):c.981dup (p.Lys328Ter)	Likely pathogenic
3599136	NM_001134793.2(HYLS1):c.181C>T (p.Arg61Ter)	Likely pathogenic
3599137	NM_001134793.2(HYLS1):c.194del (p.Pro65fs)	Likely pathogenic
3599138	NM_001134793.2(HYLS1):c.400dup (p.Arg134fs)	Likely pathogenic
3599140	NM_001134793.2(HYLS1):c.550C>T (p.Gln184Ter)	Likely pathogenic
3780509	NM_031307.4(PUS3):c.993del (p.Asn331fs)	Likely pathogenic
4069616	NM_001134793.2(HYLS1):c.520dup (p.Arg174fs)	Likely pathogenic
4069623	NM_001134793.2(HYLS1):c.657C>G (p.Tyr219Ter)	Likely pathogenic
4076610	NM_001134793.2(HYLS1):c.613C>T (p.Arg205Ter)	Likely pathogenic
4816848	NM_001134793.2(HYLS1):c.15_16insAA (p.Pro6fs)	Likely pathogenic
4816849	NM_001134793.2(HYLS1):c.169del (p.Ala57fs)	Likely pathogenic
4816851	NM_001134793.2(HYLS1):c.197dup (p.Gln67fs)	Likely pathogenic
4816852	NM_001134793.2(HYLS1):c.25_26del (p.Gln9fs)	Likely pathogenic
4816854	NM_001134793.2(HYLS1):c.31del (p.Trp11fs)	Likely pathogenic
4816855	NM_001134793.2(HYLS1):c.652G>T (p.Glu218Ter)	Likely pathogenic
4816857	NM_001134793.2(HYLS1):c.724C>T (p.Arg242Ter)	Likely pathogenic
4845933	NM_031307.4(PUS3):c.320dup (p.Thr108fs)	Likely pathogenic
619235	NM_031307.4(PUS3):c.1181_1182del (p.Ser394fs)	Likely pathogenic
930377	NM_031307.4(PUS3):c.1048C>T (p.Gln350Ter)	Likely pathogenic
978659	NM_031307.4(PUS3):c.340T>C (p.Cys114Arg)	Likely pathogenic

SpliceAI

835 predictions. Top by Δscore:

Variant	Effect	Δscore
11:125894282:CCATA:C	acceptor_gain	1.0000
11:125894283:CATA:C	acceptor_gain	1.0000
11:125894283:CATAC:C	acceptor_gain	1.0000
11:125894285:TA:T	acceptor_gain	1.0000
11:125894287:C:CC	acceptor_gain	1.0000
11:125899342:A:AG	acceptor_gain	1.0000
11:125899342:AGAAG:A	acceptor_gain	1.0000
11:125899343:G:GG	acceptor_gain	1.0000
11:125899343:GAA:G	acceptor_gain	1.0000
11:125899343:GAAGG:G	acceptor_gain	1.0000
11:125894284:ATA:A	acceptor_gain	0.9900
11:125894285:TAC:T	acceptor_loss	0.9900
11:125894287:C:CA	acceptor_loss	0.9900
11:125899343:GA:G	acceptor_gain	0.9900
11:125899338:TTGCA:T	acceptor_loss	0.9800
11:125899339:TGCA:T	acceptor_loss	0.9800
11:125899341:CAG:C	acceptor_loss	0.9800
11:125899343:G:C	acceptor_loss	0.9800
11:125894284:ATACT:A	acceptor_gain	0.9700
11:125894286:ACT:A	acceptor_gain	0.9600
11:125895219:CTCA:C	donor_loss	0.9600
11:125895220:TCAC:T	donor_loss	0.9600
11:125895221:CACC:C	donor_loss	0.9600
11:125895222:A:AG	donor_loss	0.9600
11:125895901:CCTTA:C	donor_loss	0.9600
11:125895902:CTTAC:C	donor_loss	0.9600
11:125895903:TTACC:T	donor_loss	0.9600
11:125895904:TAC:T	donor_loss	0.9600
11:125895905:A:AT	donor_loss	0.9600
11:125895923:ACT:A	donor_gain	0.9600

AlphaMissense

1937 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:125899656:A:C	R96S	0.998
11:125899656:A:T	R96S	0.998
11:125900035:T:A	W223R	0.997
11:125900035:T:C	W223R	0.997
11:125900199:G:C	W277C	0.997
11:125900199:G:T	W277C	0.997
11:125900037:G:C	W223C	0.996
11:125900037:G:T	W223C	0.996
11:125900197:T:A	W277R	0.996
11:125900197:T:C	W277R	0.996
11:125899951:T:C	F195L	0.995
11:125899953:T:A	F195L	0.995
11:125899953:T:G	F195L	0.995
11:125900014:T:G	Y216D	0.994
11:125899655:G:C	R96T	0.993
11:125900184:G:C	R272S	0.993
11:125900184:G:T	R272S	0.993
11:125899659:G:C	K97N	0.992
11:125899659:G:T	K97N	0.992
11:125899955:T:C	I196T	0.991
11:125900206:C:A	R280S	0.991
11:125900036:G:C	W223S	0.990
11:125900028:A:C	K220N	0.989
11:125900028:A:T	K220N	0.989
11:125900183:G:C	R272T	0.989
11:125899666:C:A	R100S	0.988
11:125900216:T:C	L283P	0.988
11:125899667:G:C	R100P	0.987
11:125899655:G:T	R96I	0.985
11:125900198:G:C	W277S	0.985

dbSNP variants (sampled 300 via entrez): RS1000005758 (11:125896285 G>A), RS1000125267 (11:125889287 G>C), RS1000136018 (11:125884579 G>A,C), RS1000190212 (11:125885005 A>C,G), RS1000203438 (11:125892498 T>G), RS1000429676 (11:125886838 G>A,C), RS1000616545 (11:125900073 G>A,C), RS1000642513 (11:125889525 G>A), RS1001012886 (11:125894660 A>G), RS1001063674 (11:125894346 A>G), RS1001203182 (11:125890854 GA>G), RS1001221569 (11:125898366 T>A,G), RS1001292387 (11:125901027 A>G,T), RS1001320647 (11:125891101 G>A), RS1001533517 (11:125888143 C>T)

Disease associations

OMIM: gene MIM:610693 | disease phenotypes: MIM:236680, MIM:617051, MIM:220200, MIM:206500

GenCC curated gene-disease

Disease	Classification	Inheritance
hydrolethalus syndrome 1	Definitive	Autosomal recessive
hydrolethalus syndrome	Supportive	Autosomal recessive
Joubert syndrome	Supportive	Autosomal recessive

ClinGen Gene-Disease Validity (1)

Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.

Disease	Classification	Inheritance
hydrolethalus syndrome	Moderate	AR

Mondo (7): hydrolethalus syndrome (MONDO:0006037), hydrolethalus syndrome 1 (MONDO:0009365), severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome (MONDO:0014886), Dandy-Walker syndrome (MONDO:0009072), anencephaly (MONDO:0000819), polyhydramnios (MONDO:0004585), Joubert syndrome (MONDO:0018772)

Orphanet (3): Hydrolethalus (Orphanet:2189), Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome (Orphanet:488627), Isolated Dandy-Walker malformation (Orphanet:217)

HPO phenotypes

93 total (30 of 93 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000028	Cryptorchidism
HP:0000047	Hypospadias
HP:0000126	Hydronephrosis
HP:0000136	Bifid uterus
HP:0000142	Abnormal vagina morphology
HP:0000161	Median cleft upper lip
HP:0000175	Cleft palate
HP:0000176	Submucous cleft hard palate
HP:0000193	Bifid uvula
HP:0000202	Orofacial cleft
HP:0000238	Hydrocephalus
HP:0000276	Long face
HP:0000278	Retrognathia
HP:0000347	Micrognathia
HP:0000358	Posteriorly rotated ears
HP:0000369	Low-set ears
HP:0000377	Abnormal pinna morphology
HP:0000426	Prominent nasal bridge
HP:0000463	Anteverted nares
HP:0000475	Broad neck
HP:0000486	Strabismus
HP:0000490	Deeply set eye
HP:0000508	Ptosis
HP:0000528	Anophthalmia
HP:0000568	Microphthalmia
HP:0000612	Iris coloboma
HP:0000639	Nystagmus
HP:0000657	Oculomotor apraxia
HP:0000864	Abnormality of the hypothalamus-pituitary axis

GWAS associations

2 associations (top):

Study	Trait	p-value
GCST002861_2	Breast cancer (survival)	1.000000e-09
GCST010796_3815	Electrocardiogram morphology (amplitude at temporal datapoints)	2.000000e-08

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0000714	survival time
EFO:0004327	electrocardiography

MeSH disease descriptors (5)

Descriptor	Name	Tree numbers
D000757	Anencephaly	C10.500.680.196; C16.131.085.197; C16.131.666.680.196
D003616	Dandy-Walker Syndrome	C10.228.140.252.300; C10.228.140.602.500; C10.500.205; C16.131.666.205
D006831	Polyhydramnios	C12.050.703.610
C565504	Hydrolethalus Syndrome 1 (supp.)
C536079	Hydrolethalus syndrome (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Air Pollutants	increases expression, decreases expression, increases abundance	2
Benzo(a)pyrene	affects methylation, decreases expression, decreases methylation, increases methylation	2
Tobacco Smoke Pollution	decreases expression	2
Valproic Acid	decreases expression, affects expression	2
7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	decreases expression	2
Cadmium Chloride	decreases expression	2
3-((6-(2-methoxyphenyl)pyrimidin-4-yl)amino)phenyl)methane sulfonamide	decreases expression	1
GSK-J4	decreases expression	1
bisphenol F	affects cotreatment, increases expression	1
dicrotophos	decreases expression	1
bisphenol A	decreases expression	1
deoxynivalenol	increases expression	1
arsenite	affects binding, increases reaction	1
sodium arsenite	decreases expression	1
ochratoxin A	decreases expression	1
potassium chromate(VI)	affects cotreatment, decreases expression	1
ferrous chloride	decreases expression	1
2,3-bis(3’-hydroxybenzyl)butyrolactone	affects cotreatment, increases expression	1
cupric oxide	decreases expression	1
hydroquinone	decreases expression	1
diallyl trisulfide	decreases expression	1
epigallocatechin gallate	affects cotreatment, decreases expression	1
di-n-butylphosphoric acid	affects expression	1
2-palmitoylglycerol	increases expression	1
abrine	increases expression	1
Resveratrol	increases expression, affects cotreatment	1
Temozolomide	decreases expression	1
Sunitinib	decreases expression	1
Acetaminophen	increases expression	1
Hexachlorocyclohexane	decreases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00873678	Not specified	COMPLETED	Assessment of the Prevalence of Genes AHI1, NPHP1 and CEP290 in Joubert Syndrome
NCT01401998	Not specified	RECRUITING	ARPKD Database Study
NCT04874909	Not specified	COMPLETED	Classification, Functional Stratification and Biomarkers in Ciliopathy (CILLICORIRCM)
NCT00031122	Not specified	UNKNOWN	Study of Genetic Risk Factors for Spina Bifida and Anencephaly
NCT00636233	Not specified	COMPLETED	Genetics of Spina Bifida and Anencephaly
NCT00236340	Not specified	COMPLETED	Syringe or Continuous Amnioreduction for Symptomatic Polyhydramnios. A Prospective Randomized Study.
NCT03277417	Not specified	UNKNOWN	Does Amniotic Fluid Index Affect the Fetal Cardiac Performance?
NCT04497532	Not specified	UNKNOWN	Influence of Diet on Pregnancy With Polyhydramnios
NCT05043753	Not specified	RECRUITING	Fetal gRowth AbnorMality dEtection Trial
NCT05059093	Not specified	COMPLETED	Developing and Testing AI Models for Fetal Biometry and Amniotic Volume Assessment in Fetal Ultrasound Scans.
NCT07067593	Not specified	NOT_YET_RECRUITING	Amnioreduction in Polyhydramnios