FAM219A
geneOn this page
Also known as bA573M23.5FLJ39031
Summary
FAM219A (family with sequence similarity 219 member A, HGNC:19920) is a protein-coding gene on chromosome 9p13.3, encoding Protein FAM219A (Q8IW50).
The protein encoded by this gene has homologs that have been identified in mouse, macaque, etc organisms. Multiple alternatively spliced transcript variants that encode different protein isoforms have been described for this gene.
Source: NCBI Gene 203259 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 23 total
- MANE Select transcript:
NM_001184940
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:19920 |
| Approved symbol | FAM219A |
| Name | family with sequence similarity 219 member A |
| Location | 9p13.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | bA573M23.5, FLJ39031 |
| Ensembl gene | ENSG00000164970 |
| Ensembl biotype | protein_coding |
| Entrez | 203259 |
Gene structure
Transcript identifiers
Ensembl transcripts: 14 — 14 protein_coding
ENST00000297620, ENST00000379078, ENST00000379080, ENST00000379081, ENST00000379084, ENST00000379087, ENST00000379089, ENST00000422409, ENST00000445726, ENST00000651358, ENST00000858746, ENST00000858747, ENST00000921867, ENST00000953321
RefSeq mRNA: 6 — MANE Select: NM_001184940
NM_001184940, NM_001184941, NM_001184942, NM_001184943, NM_001184945, NM_147202
CCDS: CCDS55304, CCDS6556
Canonical transcript exons
ENST00000651358 — 6 exons
| Exon | Start | End |
|---|---|---|
| ENSE00003889999 | 34405865 | 34405964 |
| ENSE00003890056 | 34401666 | 34401720 |
| ENSE00003891020 | 34458204 | 34458570 |
| ENSE00003894181 | 34402705 | 34402807 |
| ENSE00003895097 | 34398184 | 34401122 |
| ENSE00003895480 | 34402387 | 34402467 |
Expression profiles
Bgee: expression breadth ubiquitous, 245 present calls, max score 97.39.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 30.6398 / max 312.1524, expressed in 1811 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 100511 | 27.5973 | 1810 |
| 100509 | 2.2655 | 1120 |
| 100510 | 0.7770 | 413 |
Top tissues by expression
257 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| ventricular zone | UBERON:0003053 | 97.39 | gold quality |
| superior vestibular nucleus | UBERON:0007227 | 96.75 | gold quality |
| medulla oblongata | UBERON:0001896 | 96.36 | gold quality |
| ventral tegmental area | UBERON:0002691 | 96.27 | gold quality |
| inferior vagus X ganglion | UBERON:0005363 | 96.07 | gold quality |
| pons | UBERON:0000988 | 96.01 | gold quality |
| hypothalamus | UBERON:0001898 | 95.91 | gold quality |
| midbrain | UBERON:0001891 | 95.81 | gold quality |
| prefrontal cortex | UBERON:0000451 | 95.76 | gold quality |
| substantia nigra | UBERON:0002038 | 95.71 | gold quality |
| dorsal plus ventral thalamus | UBERON:0001897 | 95.66 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 95.43 | gold quality |
| spinal cord | UBERON:0002240 | 95.41 | gold quality |
| amygdala | UBERON:0001876 | 95.39 | gold quality |
| substantia nigra pars compacta | UBERON:0001965 | 95.38 | gold quality |
| lateral nuclear group of thalamus | UBERON:0002736 | 95.25 | gold quality |
| parietal lobe | UBERON:0001872 | 95.23 | gold quality |
| right frontal lobe | UBERON:0002810 | 95.21 | gold quality |
| subthalamic nucleus | UBERON:0001906 | 95.18 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 95.18 | gold quality |
| substantia nigra pars reticulata | UBERON:0001966 | 95.11 | gold quality |
| postcentral gyrus | UBERON:0002581 | 95.03 | gold quality |
| frontal cortex | UBERON:0001870 | 95.00 | gold quality |
| putamen | UBERON:0001874 | 94.97 | gold quality |
| neocortex | UBERON:0001950 | 94.76 | gold quality |
| temporal lobe | UBERON:0001871 | 94.27 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 94.23 | gold quality |
| ganglionic eminence | UBERON:0004023 | 94.14 | gold quality |
| embryo | UBERON:0000922 | 94.13 | gold quality |
| superior frontal gyrus | UBERON:0002661 | 94.11 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 2.48 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
132 targeting FAM219A, 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-8485 | 100.00 | 77.57 | 4731 |
| HSA-MIR-4510 | 100.00 | 66.60 | 2050 |
| HSA-MIR-6127 | 100.00 | 66.76 | 2188 |
| HSA-MIR-6129 | 100.00 | 66.46 | 2080 |
| HSA-MIR-6130 | 100.00 | 66.69 | 2012 |
| HSA-MIR-6133 | 100.00 | 66.48 | 2064 |
| HSA-MIR-3162-3P | 100.00 | 65.37 | 363 |
| HSA-MIR-4481 | 100.00 | 66.42 | 1669 |
| HSA-MIR-6873-3P | 100.00 | 71.42 | 2626 |
| HSA-MIR-5196-5P | 100.00 | 67.98 | 2761 |
| HSA-MIR-4747-5P | 100.00 | 67.90 | 2681 |
| HSA-MIR-656-3P | 100.00 | 72.15 | 2788 |
| HSA-MIR-6870-5P | 99.99 | 68.55 | 2115 |
| HSA-MIR-3667-3P | 99.99 | 67.17 | 1636 |
| HSA-MIR-103A-3P | 99.98 | 69.14 | 1595 |
| HSA-MIR-107 | 99.98 | 69.14 | 1595 |
| HSA-MIR-4723-5P | 99.97 | 68.70 | 2034 |
| HSA-MIR-5698 | 99.97 | 68.49 | 2029 |
| HSA-MIR-7111-5P | 99.97 | 68.48 | 2062 |
| HSA-MIR-34C-5P | 99.97 | 70.45 | 1577 |
| HSA-MIR-449B-5P | 99.97 | 70.26 | 1580 |
| HSA-MIR-6778-3P | 99.96 | 67.29 | 2693 |
| HSA-MIR-4267 | 99.96 | 66.53 | 2368 |
| HSA-MIR-1250-3P | 99.96 | 70.04 | 4038 |
| HSA-MIR-6721-5P | 99.93 | 68.92 | 2981 |
| HSA-MIR-6783-3P | 99.89 | 67.92 | 2059 |
| HSA-MIR-1343-3P | 99.89 | 66.78 | 1815 |
| HSA-MIR-4731-5P | 99.89 | 67.23 | 2537 |
| HSA-MIR-4492 | 99.87 | 68.25 | 3611 |
| HSA-MIR-12119 | 99.87 | 68.35 | 1653 |
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | fam219ab | ENSDARG00000013813 |
| danio_rerio | fam219aa | ENSDARG00000016396 |
| mus_musculus | Fam219a | ENSMUSG00000028439 |
| rattus_norvegicus | Fam219a | ENSRNOG00000039559 |
Paralogs (1): FAM219B (ENSG00000178761)
Protein
Protein identifiers
Protein FAM219A — Q8IW50 (reviewed: Q8IW50)
All UniProt accessions (8): A0A0A0MRV9, A0A0A0MRW0, A0A0A0MRW1, A0A0A0MRW2, A0A0A0MRW3, Q8IW50, Q5T586, Q5T593
UniProt curated annotations — full annotation on UniProt →
Similarity. Belongs to the FAM219 family.
Isoforms (7)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q8IW50-1 | 1 | yes |
| Q8IW50-2 | 2 | |
| Q8IW50-3 | 3 | |
| Q8IW50-4 | 4 | |
| Q8IW50-5 | 5 | |
| Q8IW50-6 | 6 | |
| Q8IW50-7 | 7 |
RefSeq proteins (6): NP_001171869, NP_001171870, NP_001171871, NP_001171872, NP_001171874, NP_671735 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR029339 | FAM219 | Family |
Pfam: PF15260
UniProt features (18 total): modified residue 7, splice variant 5, compositionally biased region 3, chain 1, region of interest 1, sequence conflict 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q8IW50-F1 | 63.93 | 0.04 |
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 (7): 115, 122, 1, 47, 72, 102, 113
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 112 (showing top):
GCM_MAP4K4, E2F_Q4_01, GGTGTGT_MIR329, GCM_PTPRD, AAGCCAT_MIR135A_MIR135B, AACYNNNNTTCCS_UNKNOWN, PAX8_B, BRN2_01, TGCTGAY_UNKNOWN, chr9p13, TGACATY_UNKNOWN, ATF3_Q6, PU1_Q6, CCAGGTT_MIR490, GCM_CALM1
GO Biological Process (0):
GO Molecular Function (0):
GO Cellular Component (0):
Protein interactions and networks
STRING
294 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| FAM219A | RPP25L | Q8N5L8 | 654 |
| FAM219A | DCTN3 | O75935 | 584 |
| FAM219A | ZNF511 | Q8NB15 | 566 |
| FAM219A | SPMIP6 | Q8NCR6 | 563 |
| FAM219A | ENHO | Q6UWT2 | 546 |
| FAM219A | ZFAND2B | Q8WV99 | 532 |
| FAM219A | SPATA31F1 | Q6ZU69 | 528 |
| FAM219A | DNAI1 | Q9UI46 | 497 |
| FAM219A | CFAP95 | Q5VTT2 | 479 |
| FAM219A | LRRC39 | Q96DD0 | 470 |
| FAM219A | ARID3C | A6NKF2 | 448 |
| FAM219A | CFAP161 | Q6P656 | 434 |
| FAM219A | MYORG | Q6NSJ0 | 424 |
| FAM219A | TMEM215 | Q68D42 | 418 |
| FAM219A | CELA2B | P08218 | 400 |
| FAM219A | WDR83OS | Q9Y284 | 400 |
IntAct
22 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| RABGGTB | PIPSL | psi-mi:“MI:0914”(association) | 0.530 |
| GPR37 | ATE1 | psi-mi:“MI:0914”(association) | 0.530 |
| FAM219A | OBSL1 | psi-mi:“MI:0914”(association) | 0.530 |
| FAM219A | CSNK1G1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| FAM219A | NIPSNAP3A | psi-mi:“MI:0915”(physical association) | 0.370 |
| SPRY2 | FAM219A | psi-mi:“MI:0915”(physical association) | 0.370 |
| CHRNA4 | TMEM223 | psi-mi:“MI:0914”(association) | 0.350 |
| RUSF1 | TMEM120B | psi-mi:“MI:0914”(association) | 0.350 |
| GORASP1 | RTCA | psi-mi:“MI:0914”(association) | 0.350 |
| KCNE3 | PIK3R2 | psi-mi:“MI:0914”(association) | 0.350 |
| FAM219A | NBN | psi-mi:“MI:0914”(association) | 0.350 |
| PDE6D | SUN1 | psi-mi:“MI:0914”(association) | 0.350 |
| FAM219A | H1-1 | psi-mi:“MI:0914”(association) | 0.350 |
| TMEM17 | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.270 |
| TGOLN2 | BLTP3B | psi-mi:“MI:2364”(proximity) | 0.270 |
| TGOLN2 | TRAPPC13 | psi-mi:“MI:2364”(proximity) | 0.270 |
| ARHGAP32 | psi-mi:“MI:2364”(proximity) | 0.270 | |
| FAM219A | PDE6D | psi-mi:“MI:0915”(physical association) | 0.000 |
| FAM219A | POLA2 | psi-mi:“MI:0915”(physical association) | 0.000 |
| FAM219A | WWC1 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (95): FAM219A (Affinity Capture-MS), GATAD2A (Affinity Capture-MS), MBD3 (Affinity Capture-MS), FBXO10 (Affinity Capture-MS), MTA2 (Affinity Capture-MS), MTA3 (Affinity Capture-MS), MTA1 (Affinity Capture-MS), UBR3 (Affinity Capture-MS), ATE1 (Affinity Capture-MS), MRE11A (Affinity Capture-MS), OBSL1 (Affinity Capture-MS), RAD50 (Affinity Capture-MS), NBN (Affinity Capture-MS), WDFY1 (Affinity Capture-MS), MARS2 (Affinity Capture-MS)
ESM2 similar proteins: A0A088MLT8, A2AQ19, A4FV29, A4IFK9, B3KU38, O14795, O70166, O93388, O95983, P21818, P31395, P50751, P54227, P55821, P63042, P63043, Q09001, Q09002, Q09004, Q09006, Q2KJ58, Q32L68, Q4KUS2, Q4R4N5, Q5F3L9, Q5FVJ5, Q5PSV4, Q5R4C5, Q5R562, Q5R8C6, Q5RAD5, Q62768, Q6GQB5, Q8IVM0, Q8IW50, Q8TBN0, Q8VDV3, Q90987, Q92541, Q93045
Diamond homologs: Q14DQ1, Q5XKK7, Q6DC60, Q8IW50, Q9BGQ5, Q9D772
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
23 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 16 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1219 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 9:34401118:ATCTG:A | acceptor_gain | 1.0000 |
| 9:34401120:CTG:C | acceptor_gain | 1.0000 |
| 9:34401121:TG:T | acceptor_gain | 1.0000 |
| 9:34401121:TGCTG:T | acceptor_loss | 1.0000 |
| 9:34401122:GCTG:G | acceptor_loss | 1.0000 |
| 9:34401123:C:CC | acceptor_gain | 1.0000 |
| 9:34401124:T:C | acceptor_loss | 1.0000 |
| 9:34401125:G:C | acceptor_gain | 1.0000 |
| 9:34401130:C:CT | acceptor_gain | 1.0000 |
| 9:34401660:GCTCA:G | donor_loss | 1.0000 |
| 9:34401661:CTCA:C | donor_loss | 1.0000 |
| 9:34401662:TCA:T | donor_loss | 1.0000 |
| 9:34401663:CA:C | donor_loss | 1.0000 |
| 9:34401664:A:T | donor_loss | 1.0000 |
| 9:34401665:C:T | donor_loss | 1.0000 |
| 9:34401718:TCG:T | acceptor_gain | 1.0000 |
| 9:34401719:CGC:C | acceptor_gain | 1.0000 |
| 9:34401725:CCA:C | acceptor_gain | 1.0000 |
| 9:34401726:C:T | acceptor_gain | 1.0000 |
| 9:34401726:CA:C | acceptor_gain | 1.0000 |
| 9:34401727:A:AC | acceptor_gain | 1.0000 |
| 9:34401727:A:C | acceptor_gain | 1.0000 |
| 9:34401727:A:T | acceptor_gain | 1.0000 |
| 9:34402383:ACAC:A | donor_loss | 1.0000 |
| 9:34402384:CA:C | donor_loss | 1.0000 |
| 9:34402385:A:AT | donor_loss | 1.0000 |
| 9:34402463:CCAGC:C | acceptor_gain | 1.0000 |
| 9:34402464:CAGC:C | acceptor_gain | 1.0000 |
| 9:34402464:CAGCC:C | acceptor_gain | 1.0000 |
| 9:34402466:GC:G | acceptor_gain | 1.0000 |
AlphaMissense
1223 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 9:34401040:A:G | L161P | 1.000 |
| 9:34401040:A:T | L161H | 1.000 |
| 9:34401046:A:G | L159P | 1.000 |
| 9:34401046:A:T | L159Q | 1.000 |
| 9:34401059:C:G | D155H | 1.000 |
| 9:34401070:T:A | D151V | 1.000 |
| 9:34401071:C:G | D151H | 1.000 |
| 9:34401073:A:G | L150S | 1.000 |
| 9:34401080:A:C | Y148D | 1.000 |
| 9:34401082:C:A | G147V | 1.000 |
| 9:34401083:C:A | G147C | 1.000 |
| 9:34401083:C:G | G147R | 1.000 |
| 9:34401085:T:A | D146V | 1.000 |
| 9:34401086:C:G | D146H | 1.000 |
| 9:34401091:A:G | L144P | 1.000 |
| 9:34401094:A:G | L143P | 1.000 |
| 9:34401094:A:T | L143Q | 1.000 |
| 9:34401037:A:C | I162S | 0.999 |
| 9:34401037:A:G | I162T | 0.999 |
| 9:34401037:A:T | I162N | 0.999 |
| 9:34401040:A:C | L161R | 0.999 |
| 9:34401042:G:C | D160E | 0.999 |
| 9:34401042:G:T | D160E | 0.999 |
| 9:34401043:T:A | D160V | 0.999 |
| 9:34401043:T:C | D160G | 0.999 |
| 9:34401043:T:G | D160A | 0.999 |
| 9:34401044:C:G | D160H | 0.999 |
| 9:34401046:A:C | L159R | 0.999 |
| 9:34401050:C:G | D158H | 0.999 |
| 9:34401058:T:A | D155V | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000052392 (9:34420311 G>A,C), RS1000095707 (9:34410228 G>A), RS1000321332 (9:34426764 G>A,T), RS1000324479 (9:34430363 T>TACAAA), RS1000369311 (9:34457727 T>C), RS1000385702 (9:34447243 T>C), RS1000398296 (9:34430112 G>A), RS1000538188 (9:34436887 T>C), RS1000549288 (9:34409944 G>T), RS1000551047 (9:34420629 G>A), RS1000580433 (9:34433665 T>C), RS1000650214 (9:34425322 A>G), RS1000877292 (9:34403593 C>G,T), RS1000889039 (9:34399792 G>A), RS1000953618 (9:34442755 A>G)
Disease associations
OMIM: gene `` | disease phenotypes: MIM:167320, MIM:108120, MIM:230400, MIM:602875, MIM:613954, MIM:615923, MIM:244400
GenCC curated gene-disease
Mondo (7): inclusion body myopathy with Paget disease of bone and frontotemporal dementia (MONDO:0000507), arthrogryposis, distal, type 1A (MONDO:0007157), classic galactosemia (MONDO:0009258), acromesomelic dysplasia 1, Maroteaux type (MONDO:0011275), frontotemporal dementia and/or amyotrophic lateral sclerosis 6 (MONDO:0013501), tall stature-scoliosis-macrodactyly of the great toes syndrome (MONDO:0014401), primary ciliary dyskinesia (MONDO:0016575)
Orphanet (9): Distal arthrogryposis type 1 (Orphanet:1146), Primary ciliary dyskinesia (Orphanet:244), Frontotemporal dementia with motor neuron disease (Orphanet:275872), Tall stature-long halluces-multiple extra-epiphyses syndrome (Orphanet:329191), Galactosemia (Orphanet:352), Acromesomelic dysplasia, Maroteaux type (Orphanet:40), Inclusion body myopathy with Paget disease of bone and frontotemporal dementia (Orphanet:52430), Classic galactosemia (Orphanet:79239), Amyotrophic lateral sclerosis (Orphanet:803)
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
0 associations (top):
MeSH disease descriptors (3)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D002925 | Ciliary Motility Disorders | C08.200; C09.150; C16.131.077.245.500; C16.320.184.500 |
| D007619 | Kartagener Syndrome | C08.127.384.500; C08.200.531; C08.695.501; C09.150.531; C14.240.400.280.500; C14.280.400.280.500; C16.131.077.245.500.531; C16.131.240.400.280.500; C16.131.740.501; C16.131.810.250.500; C16.320.184.500.531; C16.320.480 |
| C535661 | Acromesomelic dysplasia, Maroteaux type (supp.) |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
41 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects expression, increases expression | 4 |
| sodium arsenite | affects cotreatment, increases abundance, increases expression | 2 |
| Estradiol | affects cotreatment, increases expression | 2 |
| Phenylmercuric Acetate | affects cotreatment, increases expression | 2 |
| Cyclosporine | increases expression | 2 |
| Cadmium Chloride | increases expression | 2 |
| p-Chloromercuribenzoic Acid | affects cotreatment, increases expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| FR900359 | increases phosphorylation | 1 |
| dicrotophos | increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| lead acetate | increases expression | 1 |
| ethyl-p-hydroxybenzoate | increases expression | 1 |
| cobaltous chloride | increases expression | 1 |
| manganese chloride | increases expression, affects cotreatment, increases abundance | 1 |
| aflatoxin B2 | increases methylation | 1 |
| cupric chloride | increases expression | 1 |
| coumarin | increases phosphorylation | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, increases expression | 1 |
| abrine | increases expression | 1 |
| dorsomorphin | affects cotreatment, increases expression | 1 |
| NSC 689534 | affects binding, increases expression | 1 |
| 4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid | decreases expression | 1 |
| Bortezomib | increases expression | 1 |
| Irinotecan | decreases expression | 1 |
| Resveratrol | decreases expression, affects cotreatment | 1 |
| Acetaminophen | increases expression | 1 |
| Air Pollutants | increases abundance, increases expression | 1 |
| Arsenic | affects cotreatment, increases abundance, increases expression | 1 |
| Atrazine | increases expression | 1 |
Clinical trials (associated diseases)
84 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT05418829 | PHASE3 | UNKNOWN | AT-007 in Adult Subjects With Classic Galactosemia (CG) |
| NCT03580122 | PHASE2 | COMPLETED | The Effect of Arginine on Classic Galactosemia |
| NCT02871778 | PHASE2 | COMPLETED | Clearing Lungs With ENaC Inhibition in Primary Ciliary Dyskinesia |
| NCT07318974 | PHASE2 | ACTIVE_NOT_RECRUITING | Melatonin Therapy for Improving ICSI Outcomes in Women With Diminished Ovarian Reserve |
| NCT05737485 | PHASE1 | COMPLETED | Study Evaluating the Safety and Tolerability of RCT1100 in Healthy and PCD Subjects |
| NCT06600425 | PHASE1 | COMPLETED | A Study to Assess the Safety, Tolerability, Ciliary Rescue, and Pharmacodynamics of RCT1100 in Adults With PCD |
| NCT06633757 | PHASE1 | COMPLETED | Study of Inhaled RCT1100 in Adults With PCD Caused by Pathogenic Mutations in the DNAI1 Gene to Measure Mucociliary Clearance |
| NCT01353430 | Not specified | RECRUITING | Characterization of Inclusion Body Myopathy Associated With Paget’s Disease of Bone and Frontotemporal Dementia (IBMPFD) |
| NCT01793168 | Not specified | RECRUITING | Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford |
| NCT04823143 | Not specified | COMPLETED | Natural History Study of Patients With VCP-related Disease |
| NCT01144741 | Not specified | TERMINATED | Survey Study and Records Review of Treatment Outcomes in Freeman-Sheldon Syndrome |
| NCT05393375 | Not specified | COMPLETED | Arthrogryposis Multiplex Congenita in Pediatric Age: Correlation Between MUScular MRI and Functional Evaluation |
| NCT05673265 | Not specified | UNKNOWN | Pediatric and Adult Registry for Patients With ARThrogryposis |
| NCT06130592 | Not specified | UNKNOWN | Technical Feasibility Study of Ultrasound Muscle Imaging in Antenatal Ultrasound |
| NCT07360574 | Not specified | NOT_YET_RECRUITING | Piezo2-related Arthrogryposis & physiopathOLOgy 3 |
| NCT04902781 | PHASE2/PHASE3 | COMPLETED | Clinical Benefit, Safety, PK and PD Study of AT-007 in Pediatric Subjects With Classic Galactosemia |
| NCT04117711 | PHASE1/PHASE2 | COMPLETED | Safety and Pharmacokinetics of AT-007 in Healthy Subjects and in Adult Subjects With Classic Galactosemia |
| NCT03838016 | EARLY_PHASE1 | COMPLETED | Preventing Speech and Language Disorders in Children With Classic Galactosemia |
| NCT04901715 | EARLY_PHASE1 | COMPLETED | Functional Studies of Novel Genes Mutated in Primary Ciliary Dyskinesia II: Genotype to Phenotype |
| NCT00005650 | Not specified | COMPLETED | Genetic Study of Patients With Primary Ciliary Dyskinesia |
| NCT00323167 | Not specified | COMPLETED | Rare Genetic Disorders of the Breathing Airways |
| NCT00368446 | Not specified | COMPLETED | Genetic Disorders of Mucociliary Clearance in Nontuberculous Mycobacterial Lung Disease |
| NCT00450918 | Not specified | COMPLETED | Evaluating Progression of and Diagnostic Tools for Primary Ciliary Dyskinesia in Children and Adolescents |
| NCT00608556 | Not specified | COMPLETED | Dyskinesia, Heterotaxy and Congenital Heart Disease |
| NCT00686309 | Not specified | UNKNOWN | Comparison of On-line and Off-line Measurements of Exhaled Nitric Oxide (NO) |
| NCT00722878 | Not specified | COMPLETED | Long-term Lung Function and Disease Progression in Children With Early Onset Primary Ciliary Dyskinesia Lung Disease |
| NCT00739817 | Not specified | UNKNOWN | Screening for Primary Ciliary Dyskinesia Using Nasal Nitric Oxide |
| NCT00783887 | Not specified | COMPLETED | Diagnosis of Primary Ciliary Dyskinesia |
| NCT00807482 | Not specified | RECRUITING | Pathogenesis of Primary Ciliary Dyskinesia (PCD) Lung Disease |
| NCT01070914 | Not specified | UNKNOWN | Early Detection and Characterization of Primary Ciliary Dyskinesia |
| NCT01155115 | Not specified | COMPLETED | Inflammatory and Microbiologic Markers in Sputum: Comparing Cystic Fibrosis With Primary Ciliary Dyskinesia |
| NCT01246258 | Not specified | COMPLETED | Otolith Function in Patients With Primary Ciliary Dyskinesia |
| NCT01929356 | Not specified | RECRUITING | Chest Physiotherapy and Lung Function in Primary Ciliary Dyskinesia |
| NCT02389049 | Not specified | COMPLETED | Genetics of Primary Ciliary Dyskinesia |
| NCT02419365 | Not specified | RECRUITING | International Primary Ciliary Dyskinesia (PCD) Registry |
| NCT02699177 | Not specified | UNKNOWN | In Vivo Measurements of Nasal Ciliary Beat Frequency by Using Interferometry |
| NCT02704455 | Not specified | NOT_YET_RECRUITING | Registry Study on Primary Ciliary Dyskinesia in Chinese Children |
| NCT03271840 | Not specified | COMPLETED | Registry for Primary Ciliary Dyskinesia |
| NCT03279965 | Not specified | UNKNOWN | MRI in Cystic Fibrosis and Primary Ciliary Dyskinesia |
| NCT03320382 | Not specified | UNKNOWN | Multiple Breath Washout, a Clinimetric Dataset |
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): acromesomelic dysplasia 1, Maroteaux type, arthrogryposis, distal, type 1A, classic galactosemia, frontotemporal dementia and/or amyotrophic lateral sclerosis 6, inclusion body myopathy with Paget disease of bone and frontotemporal dementia, primary ciliary dyskinesia, tall stature-scoliosis-macrodactyly of the great toes syndrome