HID1

Summary

HID1 (HID1 domain containing, HGNC:15736) is a protein-coding gene on chromosome 17q25.1, encoding Protein HID1 (Q8IV36). May play an important role in the development of cancers in a broad range of tissues.

Predicted to act upstream of or within several processes, including insulin processing; secretory granule maturation; and vacuole fusion, non-autophagic. Located in Golgi apparatus; cytoplasmic microtubule; and cytosol. Implicated in developmental and epileptic encephalopathy 105.

Source: NCBI Gene 283987 — RefSeq curated summary.

At a glance

• Gene–disease (curated): developmental and epileptic encephalopathy 105 with hypopituitarism (Strong, GenCC) — +3 more curated relationships
• GWAS associations: 6
• Clinical variants (ClinVar): 202 total — 8 pathogenic, 6 likely-pathogenic
• Phenotypes (HPO): 26
• MANE Select transcript: NM_030630

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:15736
Approved symbol	HID1
Name	HID1 domain containing
Location	17q25.1
Locus type	gene with protein product
Status	Approved
Aliases	DMC1, HID-1
Ensembl gene	ENSG00000167861
Ensembl biotype	protein_coding
OMIM	605752
Entrez	283987

Gene structure

Transcript identifiers

Ensembl transcripts: 28 — 18 protein_coding, 5 retained_intron, 4 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay

ENST00000318565, ENST00000425042, ENST00000525128, ENST00000528902, ENST00000530857, ENST00000530904, ENST00000532395, ENST00000532894, ENST00000532900, ENST00000534480, ENST00000578002, ENST00000579818, ENST00000581676, ENST00000583244, ENST00000879335, ENST00000879336, ENST00000879337, ENST00000879338, ENST00000879339, ENST00000879340, ENST00000879341, ENST00000879342, ENST00000879343, ENST00000879344, ENST00000879345, ENST00000879346, ENST00000911522, ENST00000967000

RefSeq mRNA: 1 — MANE Select: NM_030630 NM_030630

CCDS: CCDS32726

Canonical transcript exons

ENST00000425042 — 19 exons

Exon	Start	End
ENSE00001330028	74972591	74972759
ENSE00002145911	74950742	74951633
ENSE00003486644	74962234	74962340
ENSE00003508873	74952269	74952360
ENSE00003514948	74951905	74952063
ENSE00003523432	74953006	74953086
ENSE00003543385	74960026	74960248
ENSE00003546761	74955792	74955956
ENSE00003553001	74962965	74963081
ENSE00003553717	74958911	74959051
ENSE00003583923	74963740	74963910
ENSE00003588095	74954138	74954365
ENSE00003643680	74961873	74961989
ENSE00003661798	74964483	74964632
ENSE00003667528	74958141	74958219
ENSE00003668774	74953545	74953651
ENSE00003676651	74959881	74959937
ENSE00003677754	74958327	74958478
ENSE00003679074	74958673	74958763

Expression profiles

Bgee: expression breadth ubiquitous, 212 present calls, max score 98.99.

FANTOM5 (CAGE): breadth broad, TPM avg 8.8018 / max 784.6361, expressed in 907 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
168028	4.6845	669
168029	3.9452	766
168026	0.1104	38
168030	0.0617	34

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right hemisphere of cerebellum	UBERON:0014890	98.99	gold quality
cerebellar hemisphere	UBERON:0002245	98.92	gold quality
cerebellar cortex	UBERON:0002129	98.84	gold quality
body of pancreas	UBERON:0001150	98.28	gold quality
cerebellum	UBERON:0002037	97.57	gold quality
right frontal lobe	UBERON:0002810	96.06	gold quality
body of stomach	UBERON:0001161	95.49	gold quality
pancreas	UBERON:0001264	95.29	gold quality
adenohypophysis	UBERON:0002196	95.00	gold quality
Brodmann (1909) area 9	UBERON:0013540	94.74	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	94.57	gold quality
pituitary gland	UBERON:0000007	94.04	gold quality
right uterine tube	UBERON:0001302	94.02	gold quality
stomach	UBERON:0000945	93.56	gold quality
minor salivary gland	UBERON:0001830	93.23	gold quality
hypothalamus	UBERON:0001898	93.17	gold quality
anterior cingulate cortex	UBERON:0009835	93.05	gold quality
pancreatic ductal cell	CL:0002079	92.67	gold quality
islet of Langerhans	UBERON:0000006	92.55	gold quality
spinal cord	UBERON:0002240	92.24	gold quality
saliva-secreting gland	UBERON:0001044	92.10	gold quality
ileal mucosa	UBERON:0000331	91.78	gold quality
prefrontal cortex	UBERON:0000451	91.77	gold quality
amygdala	UBERON:0001876	91.76	gold quality
putamen	UBERON:0001874	91.65	gold quality
gall bladder	UBERON:0002110	91.39	gold quality
small intestine Peyer’s patch	UBERON:0003454	91.15	gold quality
nucleus accumbens	UBERON:0001882	90.97	gold quality
caudate nucleus	UBERON:0001873	90.57	gold quality
apex of heart	UBERON:0002098	90.46	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	10.84

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

47 targeting HID1, 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-4283	100.00	66.42	2097
HSA-MIR-4673	100.00	66.64	1490
HSA-MIR-4645-5P	99.98	65.81	1284
HSA-MIR-9-3P	99.96	70.88	2068
HSA-MIR-4487	99.96	64.58	1252
HSA-MIR-185-3P	99.95	67.01	1743
HSA-MIR-6721-5P	99.93	68.92	2981
HSA-LET-7A-2-3P	99.87	70.53	1921
HSA-MIR-4492	99.87	68.25	3611
HSA-LET-7G-3P	99.85	70.43	1929
HSA-MIR-6512-3P	99.65	66.07	1468
HSA-MIR-6720-5P	99.65	66.22	1459
HSA-MIR-1207-5P	99.49	69.11	2983
HSA-MIR-4441	99.49	66.56	3216
HSA-MIR-1275	99.47	67.90	2749
HSA-MIR-5580-5P	99.38	66.96	1139
HSA-MIR-329-5P	99.27	68.11	1597
HSA-MIR-4505	99.27	67.81	2678
HSA-MIR-4763-3P	99.10	67.83	2649
HSA-MIR-5701	98.97	69.54	1502
HSA-MIR-6846-5P	98.81	65.86	1121
HSA-MIR-6848-5P	98.81	65.49	1126
HSA-MIR-6501-3P	98.71	67.45	1480
HSA-MIR-423-5P	98.69	67.48	1522
HSA-MIR-3184-5P	98.56	67.13	1491
HSA-MIR-6776-5P	98.54	67.43	1304
HSA-MIR-4266	98.53	67.29	1035
HSA-MIR-1199-5P	98.44	66.51	829
HSA-MIR-6751-3P	98.44	66.35	835
HSA-MIR-4436B-3P	98.25	65.26	1494

Literature-anchored findings (GeneRIF, showing 3)

• mammalian HID-1 localized to the medial- and trans- Golgi apparatus as well as the cytosol. (PMID:21337012)
• Authors propose that HID-1 influences early steps in LDCV formation by controlling dense core formation at the TGN. (PMID:29074564)
• Mutations in HID1 Cause Syndromic Infantile Encephalopathy and Hypopituitarism. (PMID:33999436)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	hid1a	ENSDARG00000021846
mus_musculus	Hid1	ENSMUSG00000034586
rattus_norvegicus	Hid1	ENSRNOG00000003464
drosophila_melanogaster	CG8841	FBGN0033713
caenorhabditis_elegans		WBGENE00001844

Protein

Protein identifiers

Protein HID1 — Q8IV36 (reviewed: Q8IV36)

Alternative names: Down-regulated in multiple cancers 1, HID1 domain-containing protein, Protein hid-1 homolog

All UniProt accessions (5): E9PIM7, E9PMS4, Q8IV36, J3KSF1, X6R4D2

UniProt curated annotations — full annotation on UniProt →

Function. May play an important role in the development of cancers in a broad range of tissues.

Subcellular location. Cytoplasm. Golgi apparatus membrane.

Tissue specificity. Expressed in heart, skeletal muscle, colon, spleen, kidney, liver, small intestine and lung. Highest expression is seen in brain and placenta. Loss of expression is seen in some breast, cervical, hepatocellular, lung, thyroid, gastric and renal cell-cancer lines. Highly expressed in secretory cell lines. Expressed in almost all regions of the brain, in cerebellum, anterior frontal cortex, and striatum.

Disease relevance. Developmental and epileptic encephalopathy 105 with hypopituitarism (DEE105) [MIM:619983] A form of epileptic encephalopathy, a heterogeneous group of early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE105 is an autosomal recessive form characterized by onset of seizures in the first weeks or months of life. Affected individuals have hypopituitarism in association with profoundly impaired development with almost no acquisition of skills, brain atrophy, thin corpus callosum, and small pituitary gland. The disease is caused by variants affecting the gene represented in this entry.

Similarity. Belongs to the hid-1 family.

Isoforms (3)

UniProt ID	Names	Canonical?
Q8IV36-1	1	yes
Q8IV36-2	2
Q8IV36-3	3

RefSeq proteins (1): NP_085133* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR026705	HID1/Ecm30	Family

Pfam: PF12722

UniProt features (16 total): sequence variant 4, splice variant 2, region of interest 2, compositionally biased region 2, modified residue 2, initiator methionine 1, chain 1, sequence conflict 1, lipid moiety-binding region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8IV36-F1	86.13	0.66

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 (3): 653, 670, 2

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 360 (showing top): AHRARNT_01, GOBP_MEIOTIC_CHROMOSOME_SEGREGATION, REACTOME_MEIOTIC_RECOMBINATION, GOBP_CHROMOSOME_ORGANIZATION, MYOGENIN_Q6, GOBP_VACUOLE_ORGANIZATION, GOBP_VESICLE_ORGANIZATION, GOZGIT_ESR1_TARGETS_DN, GRAESSMANN_APOPTOSIS_BY_SERUM_DEPRIVATION_DN, GRAESSMANN_RESPONSE_TO_MC_AND_SERUM_DEPRIVATION_DN, GOBP_OOGENESIS, GOBP_REGULATION_OF_HORMONE_LEVELS, AP4_Q6, TAL1ALPHAE47_01, GOBP_MALE_GAMETE_GENERATION

GO Biological Process (4): response to glucose (GO:0009749), insulin processing (GO:0030070), vacuole fusion, non-autophagic (GO:0042144), secretory granule maturation (GO:0061792)

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

GO Cellular Component (10): Golgi trans cisterna (GO:0000138), cytoplasm (GO:0005737), Golgi apparatus (GO:0005794), Golgi medial cisterna (GO:0005797), cytosol (GO:0005829), cytoplasmic microtubule (GO:0005881), membrane (GO:0016020), extracellular exosome (GO:0070062), cytoplasmic side of Golgi membrane (GO:0098548), Golgi membrane (GO:0000139)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
cytoplasm	3
Golgi cisterna	2
response to hexose	1
peptide hormone processing	1
insulin metabolic process	1
vacuole fusion	1
secretory granule organization	1
anatomical structure maturation	1
binding	1
intracellular anatomical structure	1
endomembrane system	1
intracellular membrane-bounded organelle	1
microtubule	1
extracellular vesicle	1
Golgi membrane	1
cytoplasmic side of membrane	1
Golgi apparatus	1
bounding membrane of organelle	1

Protein interactions and networks

STRING

568 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
HID1	DYM	Q7RTS9	597
HID1	CYP4B1	P13584	479
HID1	EIPR1	Q53HC9	454
HID1	TMEM128	Q5BJH2	434
HID1	OTOP2	Q7RTS6	406
HID1	CCDC186	Q7Z3E2	403
HID1	FAM234B	A2RU67	390
HID1	SWSAP1	Q6NVH7	370
HID1	SRARP	Q8NEQ6	370
HID1	IFFO1	Q0D2I5	370
HID1	TRAM1	Q15629	363
HID1	MYO1F	O00160	354
HID1	ATOSA	Q32MH5	354
HID1	MYO1E	Q12965	351
HID1	XRCC3	O43542	351

IntAct

52 interactions, top by confidence:

A	B	Type	Score
CSDE1	HID1	psi-mi:“MI:0915”(physical association)	0.560
HID1	CSDE1	psi-mi:“MI:0915”(physical association)	0.560
CELF3	HID1	psi-mi:“MI:0915”(physical association)	0.560
HID1	UBL5	psi-mi:“MI:0915”(physical association)	0.560
EHHADH	HID1	psi-mi:“MI:0915”(physical association)	0.560
CHAT	HID1	psi-mi:“MI:0915”(physical association)	0.560
HID1	FGFR3	psi-mi:“MI:0915”(physical association)	0.560
HID1	HRAS	psi-mi:“MI:0915”(physical association)	0.560
TSC1	HID1	psi-mi:“MI:0915”(physical association)	0.560
UBQLN1	HID1	psi-mi:“MI:0915”(physical association)	0.560
HID1	SPRED1	psi-mi:“MI:0915”(physical association)	0.560
HID1	CBS	psi-mi:“MI:0915”(physical association)	0.550
CBS	HID1	psi-mi:“MI:0915”(physical association)	0.550
HID1	INPPL1	psi-mi:“MI:0915”(physical association)	0.510
INPPL1	HID1	psi-mi:“MI:0915”(physical association)	0.510
MYBL1	HID1	psi-mi:“MI:0915”(physical association)	0.400

BioGRID (28): HID1 (Two-hybrid), HID1 (Two-hybrid), HID1 (Two-hybrid), HID1 (Two-hybrid), HID1 (Two-hybrid), HID1 (Two-hybrid), HID1 (Proximity Label-MS), HID1 (Affinity Capture-MS), HID1 (Two-hybrid), HID1 (Two-hybrid), HID1 (Two-hybrid), UBL5 (Two-hybrid), HID1 (Proximity Label-MS), HID1 (Proximity Label-MS), HID1 (Two-hybrid)

ESM2 similar proteins: A0A5F8AH41, A0AVI4, A7S641, O75843, P10937, P25235, P40935, P70345, Q06AU9, Q08DJ7, Q08DK0, Q0IJ33, Q14AI0, Q28647, Q28CM7, Q3V3N7, Q4R7D0, Q503C8, Q5FVF4, Q5R5N9, Q5RDY9, Q5XIL6, Q5ZI25, Q68F70, Q6IR55, Q6NWH5, Q6PD82, Q74ZJ1, Q7KNA0, Q7QIL2, Q80YU0, Q8CHY3, Q8CIM8, Q8IV36, Q8K304, Q8MRQ4, Q8NFJ9, Q8R1F6, Q8R307, Q8WW52

Diamond homologs: Q54JJ6, Q8IV36, Q8R1F6

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	8
Likely pathogenic	6
Uncertain significance	153
Likely benign	4
Benign	6

Top pathogenic / likely-pathogenic (14)

Variant ID	HGVS	Classification
1098407	NM_030630.3(HID1):c.81_82delinsA (p.Asp28fs)	Pathogenic
1298723	NM_030630.3(HID1):c.957dup (p.Gly320fs)	Pathogenic
1328944	NM_007068.4(DMC1):c.364A>G (p.Thr122Ala)	Pathogenic
1328945	NM_007068.4(DMC1):c.860C>A (p.Pro287His)	Pathogenic
1700641	NM_030630.3(HID1):c.1297C>T (p.Arg433Trp)	Pathogenic
1700642	NM_030630.3(HID1):c.2318dup (p.Val774fs)	Pathogenic
1700643	NM_030630.3(HID1):c.560G>A (p.Gly187Asp)	Pathogenic
4278396	NM_030630.3(HID1):c.1978_1979delinsGGGCCTC (p.Ser660fs)	Pathogenic
1098406	NM_030630.3(HID1):c.1149+1G>T	Likely pathogenic
3629598	NM_007068.4(DMC1):c.164C>T (p.Thr55Ile)	Likely pathogenic
3629599	NM_007068.4(DMC1):c.490A>G (p.Thr164Ala)	Likely pathogenic
3629600	NM_007068.4(DMC1):c.581A>G (p.Tyr194Cys)	Likely pathogenic
4278015	NM_030630.3(HID1):c.2259del (p.Ala754fs)	Likely pathogenic
986224	NM_030630.3(HID1):c.2002C>T (p.Arg668Ter)	Likely pathogenic

SpliceAI

5914 predictions. Top by Δscore:

Variant	Effect	Δscore
17:74951940:C:CT	donor_gain	1.0000
17:74952059:GGCCC:G	acceptor_gain	1.0000
17:74952061:CCC:C	acceptor_gain	1.0000
17:74952062:CC:C	acceptor_gain	1.0000
17:74952062:CCC:C	acceptor_gain	1.0000
17:74952063:CC:C	acceptor_gain	1.0000
17:74952064:C:CA	acceptor_loss	1.0000
17:74952064:C:CC	acceptor_gain	1.0000
17:74952065:T:C	acceptor_loss	1.0000
17:74952264:CTCA:C	donor_gain	1.0000
17:74952266:CA:C	donor_loss	1.0000
17:74952267:A:AC	donor_gain	1.0000
17:74952268:C:CA	donor_gain	1.0000
17:74952268:CT:C	donor_gain	1.0000
17:74952268:CTT:C	donor_gain	1.0000
17:74952268:CTTG:C	donor_gain	1.0000
17:74952268:CTTGT:C	donor_gain	1.0000
17:74952358:GACCT:G	acceptor_loss	1.0000
17:74952361:CT:C	acceptor_loss	1.0000
17:74953005:CCCA:C	donor_gain	1.0000
17:74953095:C:CT	acceptor_gain	1.0000
17:74953095:C:T	acceptor_gain	1.0000
17:74953543:ACCC:A	donor_gain	1.0000
17:74953544:CCCC:C	donor_gain	1.0000
17:74954133:CAGAC:C	donor_loss	1.0000
17:74954137:C:A	donor_loss	1.0000
17:74954218:T:TA	donor_gain	1.0000
17:74955787:CTCAC:C	donor_loss	1.0000
17:74955788:TCA:T	donor_loss	1.0000
17:74955789:CACC:C	donor_loss	1.0000

AlphaMissense

5146 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
17:74951588:A:C	F783L	1.000
17:74951588:A:T	F783L	1.000
17:74951589:A:G	F783S	1.000
17:74951590:A:G	F783L	1.000
17:74951614:A:G	W775R	1.000
17:74951614:A:T	W775R	1.000
17:74951924:A:G	W762R	1.000
17:74951924:A:T	W762R	1.000
17:74951940:C:A	W756C	1.000
17:74951940:C:G	W756C	1.000
17:74951942:A:G	W756R	1.000
17:74951942:A:T	W756R	1.000
17:74951968:T:C	Y747C	1.000
17:74951969:A:C	Y747D	1.000
17:74951969:A:G	Y747H	1.000
17:74951983:A:G	I742T	1.000
17:74951983:A:T	I742N	1.000
17:74952001:A:G	L736P	1.000
17:74952004:A:G	L735P	1.000
17:74952007:C:T	G734E	1.000
17:74952008:C:G	G734R	1.000
17:74952008:C:T	G734R	1.000
17:74952028:A:G	L727P	1.000
17:74952302:A:G	L704P	1.000
17:74955804:A:C	Y542D	1.000
17:74958142:G:C	N490K	1.000
17:74958142:G:T	N490K	1.000
17:74958403:A:G	L439P	1.000
17:74958429:G:C	S430R	1.000
17:74958429:G:T	S430R	1.000

dbSNP variants (sampled 300 via entrez): RS1000153780 (17:74970377 C>A), RS1000324891 (17:74959232 T>A,G), RS1000364735 (17:74970951 T>A), RS1000392067 (17:74971238 T>C), RS1000601150 (17:74958550 G>A), RS1000632025 (17:74958369 G>A,T), RS1001054607 (17:74960730 G>A), RS1001128165 (17:74952811 A>G), RS1001129054 (17:74972758 A>G), RS1001139957 (17:74954732 G>A), RS1001242343 (17:74953838 G>A), RS1001614212 (17:74963617 T>C), RS1001625698 (17:74963887 T>A), RS1001789564 (17:74970248 A>G), RS1001872239 (17:74959326 G>A)

Disease associations

OMIM: gene MIM:605752 | disease phenotypes: MIM:619983

GenCC curated gene-disease

Disease	Classification	Inheritance
developmental and epileptic encephalopathy 105 with hypopituitarism	Strong	Autosomal recessive
primary ovarian failure	Strong	Autosomal recessive
azoospermia	Strong	Autosomal recessive
spermatogenic failure	Limited	Autosomal recessive

Mondo (4): azoospermia (MONDO:0100459), developmental and epileptic encephalopathy 105 with hypopituitarism (MONDO:0031028), primary ovarian failure (MONDO:0005387), spermatogenic failure (MONDO:0004983)

Orphanet (1): NON RARE IN EUROPE: Primary ovarian failure (Orphanet:619)

HPO phenotypes

26 total (26 of 26 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000054	Micropenis
HP:0000316	Hypertelorism
HP:0000486	Strabismus
HP:0000527	Long eyelashes
HP:0000556	Retinal dystrophy
HP:0000639	Nystagmus
HP:0000664	Synophrys
HP:0000998	Hypertrichosis
HP:0001252	Hypotonia
HP:0001257	Spasticity
HP:0001270	Motor delay
HP:0001344	Absent speech
HP:0002069	Bilateral tonic-clonic seizure
HP:0002384	Focal impaired awareness seizure
HP:0002521	Hypsarrhythmia
HP:0003593	Infantile onset
HP:0003623	Neonatal onset
HP:0008245	Pituitary hypothyroidism
HP:0010627	Anterior pituitary hypoplasia
HP:0010845	EEG with generalized slow activity
HP:0011195	EEG with focal sharp slow waves
HP:0012444	Brain atrophy
HP:0032792	Tonic seizure
HP:0032794	Myoclonic seizure
HP:0033725	Thin corpus callosum

GWAS associations

6 associations (top):

Study	Trait	p-value
GCST002817_15	Alzheimer’s disease in APOE e4- carriers	9.000000e-07
GCST005312_48	Menopause (age at onset)	2.000000e-13
GCST006019_42	Gamma glutamyl transferase levels	3.000000e-10
GCST007561_72	Sleep duration	4.000000e-08
GCST010242_28	HDL cholesterol levels	5.000000e-16
GCST90002383_109	Hematocrit	4.000000e-13

EFO canonical traits (4, from GWAS)

EFO ID	Trait name
EFO:0004704	age at menopause
EFO:0004532	serum gamma-glutamyl transferase measurement
EFO:0004612	high density lipoprotein cholesterol measurement
EFO:0004348	hematocrit

MeSH disease descriptors (2)

Descriptor	Name	Tree numbers
D053713	Azoospermia	C12.100.500.430.380; C12.100.750.700.380; C12.200.294.430.380
D016649	Primary Ovarian Insufficiency	C12.050.351.500.056.630.750; C12.100.250.056.630.750; C19.391.630.750

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

26 total (human), top 26 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	affects expression, affects cotreatment, increases abundance, increases expression	3
Cyclosporine	increases expression	3
bisphenol A	affects expression, decreases methylation	2
Air Pollutants	increases abundance, increases expression	2
Tunicamycin	increases expression	2
Particulate Matter	increases abundance, increases expression	2
propionaldehyde	increases expression	1
N-acetyl-4-benzoquinoneimine	affects response to substance	1
perfluorooctane sulfonic acid	increases expression	1
clothianidin	decreases expression	1
nutlin 3	affects cotreatment, increases expression	1
Resveratrol	affects cotreatment, decreases expression	1
Sunitinib	increases expression	1
Arsenic	affects cotreatment, increases abundance, increases expression	1
Benzo(a)pyrene	affects methylation	1
Calcitriol	increases expression	1
Dactinomycin	affects cotreatment, increases expression	1
Dichlorodiphenyl Dichloroethylene	decreases expression	1
Estradiol	affects cotreatment, decreases expression	1
Nickel	decreases expression	1
Niclosamide	increases expression	1
Plant Extracts	affects cotreatment, decreases expression	1
Tobacco Smoke Pollution	affects expression	1
Metribolone	increases expression	1
Thapsigargin	increases expression	1
Okadaic Acid	decreases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00417066	PHASE4	COMPLETED	Flexible GnRH Antagonist vs Flare up GnRH Agonist Protocol in Poor Responders
NCT00732693	PHASE4	COMPLETED	Evaluation of Physiologic and Standard Sex Steroid Replacement Regimens in Women With Premature Ovarian Failure
NCT00837616	PHASE4	COMPLETED	Estrogen Dosing in Turner Syndrome: Pharmacology and Metabolism
NCT01853501	PHASE4	UNKNOWN	Effects of ADSC Therapy in Women With POF
NCT02783937	PHASE4	COMPLETED	Filgrastim for Premature Ovarian Insufficiency
NCT03535480	PHASE4	UNKNOWN	Autologous Bone Marrow Stem Cell Ovarian Transplantation to Restore Ovarian Function in Premature Ovarian Failure
NCT02307994	PHASE4	UNKNOWN	Clinical Research on Effectiveness and Safety of Treatment of Severe Oligospermia or Azoospermia With uFSH
NCT00140998	PHASE3	COMPLETED	Estrogen Treatment (Oral vs. Patches) in Turner Syndrome
NCT02275169	PHASE3	UNKNOWN	FSH Treatment for Non-obstructive Azoospermic Patients
NCT00001951	PHASE2	COMPLETED	Hormone Replacement in Young Women With Premature Ovarian Failure
NCT00370019	PHASE2	WITHDRAWN	Effects of an Estrogen Replacement Therapy Skin Patch on Ovulation in Women With Premature Ovarian Failure
NCT00429494	PHASE2	COMPLETED	GnRH Analogue for Ovarian Function Preservation in Hematopoietic Stem Cell Transplantation Patients
NCT03816852	PHASE2	SUSPENDED	The Safety and Efficiency Study of Mesenchymal Stem Cell (19#iSCLife®-POI) in Premature Ovarian Insufficiency
NCT04536467	PHASE2	UNKNOWN	Prevention of Chemotherapy-Induced Ovarian Failure With Goserelin in Premenopausal Lymphoma Patients
NCT06117982	PHASE2	COMPLETED	The Impact of Granulocyte Colony Stimulating Factor on Premature Ovarian Insufficiency
NCT02544191	PHASE2	UNKNOWN	GnRHa Combined With hCG and hMG for Treatment of Patients With Non-obstructive Azoospermia
NCT03762967	PHASE2	UNKNOWN	Autologous Adipose-Derived Adult Stromal Vascular Cell Administration for Male Patients With Infertility
NCT02912104	PHASE1	COMPLETED	A Therapeutic Trial of Human Amniotic Epithelial Cells Transplantation for Primary Ovarian Failure
NCT03178695	PHASE1	COMPLETED	Inovium Ovarian Rejuvenation Trials
NCT04815213	PHASE1	ACTIVE_NOT_RECRUITING	The Use of Expandeded Mesenchymal Stromal Cells (MSC) in Premature Ovarian Failure (POF) in Adult Humans
NCT05138367	PHASE1	COMPLETED	Effects of UCA-PSCs in Women With POF
NCT06132542	PHASE1	UNKNOWN	Autologous ADMSC Transplantation in Patients With POI
NCT00948857	PHASE2/PHASE3	TERMINATED	Dehydroepiandrosterone (DHEA) Treatment and Premature Ovarian Failure (POF)
NCT04031456	PHASE2/PHASE3	RECRUITING	Autologous PRP Infusion May Restore Ovarian Function and May Promote Folliculogenesis in POI Patients
NCT02043743	PHASE1/PHASE2	UNKNOWN	Autologous Stem Cells Transplantation in Patients With Idiopathic and Drug Induced Premature Ovarian Failure
NCT02062931	PHASE1/PHASE2	UNKNOWN	Autologous Mesenchymal Stem Cells Transplantation In Women With Premature Ovarian Failure
NCT02151890	PHASE1/PHASE2	COMPLETED	Pregnancy After Stem Cell Transplantation in Premature Ovarian Failure
NCT02372474	PHASE1/PHASE2	COMPLETED	It is a Real The First Baby Of Autologous Stem Cell Therapy in Premature Ovarian Failure
NCT02603744	PHASE1/PHASE2	UNKNOWN	Autologous Adipose Derived Mesenchymal Stromal Cells Transplantation in Women With Premature Ovarian Failure (POF)
NCT02644447	PHASE1/PHASE2	COMPLETED	Transplantation of HUC-MSCs With Injectable Collagen Scaffold for POF
NCT03069209	PHASE1/PHASE2	UNKNOWN	Autologous Bone Marrow-Derived Stem Cell Transplantation in Patients With Premature Ovarian Failure (POF)
NCT03985462	PHASE1/PHASE2	WITHDRAWN	Very Small Embryonic-like Stem Cells for Ovary
NCT04009473	PHASE1/PHASE2	UNKNOWN	Stem Cell Therapy and Growth Factor Ovarian in Vitro Activation
NCT04071574	PHASE1/PHASE2	COMPLETED	Comparative Study on the Efficacy of Ovarian Stimulation Protocols on the Success Rate of ICSI in Female Infertility
NCT04922398	PHASE1/PHASE2	UNKNOWN	Ovarian Injection of PRP (Platelet -Rich Plasma) Vs Normal Saline in Premature Ovarian Insufficiency
NCT05462379	PHASE1/PHASE2	ACTIVE_NOT_RECRUITING	Autologous Heterotopic Fresh Ovarian Graft in Woman With LACC Eligible for Pelvic Radiotherapy Treatment.
NCT06202547	PHASE1/PHASE2	UNKNOWN	Intra-ovarian Injection of MSC-EVs in Idiopathic Premature Ovarian Failure
NCT01129947	EARLY_PHASE1	WITHDRAWN	The Use of DHEA in Women With Premature Ovarian Failure
NCT05522634	EARLY_PHASE1	UNKNOWN	A Clinical Study of Chinese Herbal Compound TJAOA101 in the Treatment of Premature Ovarian Insufficiency
NCT07308327	EARLY_PHASE1	ACTIVE_NOT_RECRUITING	The Influence of Gut Microbiota on Ovarian Function: A Single-center, Randomized,Double Blind, Parallel-controlled, Exploratory Clinical Trial