DOK7 (docking protein 7)

Gene

• Entrez ID: 285489
• Gene name: Docking protein 7
• Gene symbol: DOK7
• Synonyms (NCBI Gene): C4orf25, CMS10, CMS1B, FADS3
• Chromosome: 4
• Chromosome location: 4p16.3
• Summary: The protein encoded by this gene is essential for neuromuscular synaptogenesis. The protein functions in aneural activation of muscle-specific receptor kinase, which is required for postsynaptic differentiation, and in the subsequent clustering of the ace

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs118203994	G>A,C	Pathogenic	Stop gained, coding sequence variant, 5 prime UTR variant, missense variant
rs118203995	C>G,T	Pathogenic	Missense variant, coding sequence variant, 5 prime UTR variant, stop gained
rs139468087	C>A,G,T	Conflicting-interpretations-of-pathogenicity, likely-benign	3 prime UTR variant, coding sequence variant, synonymous variant
rs141947707	C>G,T	Likely-benign, conflicting-interpretations-of-pathogenicity	3 prime UTR variant, synonymous variant, 5 prime UTR variant, coding sequence variant
rs142821143	C>G,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	3 prime UTR variant, missense variant, 5 prime UTR variant, coding sequence variant
rs201818140	G>A,T	Conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, 5 prime UTR variant, intron variant, coding sequence variant, missense variant
rs201894731	C>A,G,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, 3 prime UTR variant, synonymous variant
rs370879328	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Genic upstream transcript variant, intron variant
rs375877997	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, 3 prime UTR variant
rs376805794	C>G,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, 3 prime UTR variant
rs544278158	T>C,G	Likely-pathogenic	Stop gained, coding sequence variant, 3 prime UTR variant, synonymous variant
rs576215366	A>C,G	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, 5 prime UTR variant, genic upstream transcript variant
rs606231128	->TGCC	Pathogenic	Coding sequence variant, frameshift variant, 3 prime UTR variant
rs606231129	C>-,CC	Pathogenic, likely-pathogenic	Coding sequence variant, frameshift variant, 3 prime UTR variant
rs606231130	TCCT>-	Pathogenic	Frameshift variant, coding sequence variant, 5 prime UTR variant
rs606231131	->CTGG	Pathogenic	Coding sequence variant, frameshift variant, 3 prime UTR variant
rs606231132	C>-,CC	Pathogenic	Coding sequence variant, frameshift variant, 3 prime UTR variant
rs606231133	C>-,CC	Pathogenic, likely-pathogenic	Coding sequence variant, frameshift variant, 3 prime UTR variant
rs756015202	C>T	Pathogenic	3 prime UTR variant, missense variant, coding sequence variant
rs761899995	->G	Pathogenic	Coding sequence variant, 3 prime UTR variant, frameshift variant
rs762345055	CTT>-	Likely-pathogenic	Intron variant, 3 prime UTR variant, stop lost, inframe indel, terminator codon variant
rs770163440	AG>-	Likely-pathogenic	Splice acceptor variant
rs775544277	->G	Pathogenic	Coding sequence variant, 3 prime UTR variant, frameshift variant
rs778172294	GGACTCAGGCGGCCAG>-,GGACTCAGGCGGCCAGGGACTCAGGCGGCCAG	Pathogenic	Frameshift variant, coding sequence variant, 3 prime UTR variant
rs794727884	CCC>-,CC,CCCC	Likely-pathogenic, pathogenic	Frameshift variant, coding sequence variant, 3 prime UTR variant, inframe deletion
rs797045040	->TCCAGTCTGT	Pathogenic	Frameshift variant, coding sequence variant, 3 prime UTR variant
rs797045528	T>-	Pathogenic	Frameshift variant, coding sequence variant, 5 prime UTR variant
rs863223277	G>T	Pathogenic	Genic upstream transcript variant, splice acceptor variant
rs1258346283	T>-	Likely-pathogenic	Frameshift variant, 3 prime UTR variant, coding sequence variant
rs1349476281	G>T	Pathogenic	Genic upstream transcript variant, intron variant, splice donor variant
rs1553846331	C>T	Pathogenic	Coding sequence variant, 5 prime UTR variant, genic upstream transcript variant, intron variant, missense variant
rs1553847993	CCCCACCAAGGGCC>GGACGGTTCTA	Likely-pathogenic	5 prime UTR variant, coding sequence variant, inframe indel
rs1553850100	->GCCACTGGCAGCCACTCCT	Pathogenic	Coding sequence variant, frameshift variant, 3 prime UTR variant
rs1560200925	C>-	Pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant, genic upstream transcript variant
rs1560224831	->TCTC	Pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT019810	hsa-miR-375	Microarray	20215506
MIRT022616	hsa-miR-124-3p	Microarray	18668037
MIRT943208	hsa-miR-1207-5p	CLIP-seq
MIRT943209	hsa-miR-1224-3p	CLIP-seq
MIRT943210	hsa-miR-1231	CLIP-seq
MIRT943211	hsa-miR-124	CLIP-seq
MIRT943212	hsa-miR-1260	CLIP-seq
MIRT943213	hsa-miR-1260b	CLIP-seq
MIRT943214	hsa-miR-1271	CLIP-seq
MIRT943215	hsa-miR-1280	CLIP-seq
MIRT943216	hsa-miR-129-3p	CLIP-seq
MIRT943217	hsa-miR-130a	CLIP-seq
MIRT943218	hsa-miR-130b	CLIP-seq
MIRT943219	hsa-miR-145	CLIP-seq
MIRT943220	hsa-miR-148a	CLIP-seq
MIRT943221	hsa-miR-148b	CLIP-seq
MIRT943222	hsa-miR-152	CLIP-seq
MIRT943223	hsa-miR-1587	CLIP-seq
MIRT943224	hsa-miR-1825	CLIP-seq
MIRT943225	hsa-miR-19a	CLIP-seq
MIRT943226	hsa-miR-19b	CLIP-seq
MIRT943227	hsa-miR-2276	CLIP-seq
MIRT943228	hsa-miR-27a	CLIP-seq
MIRT943229	hsa-miR-27b	CLIP-seq
MIRT943230	hsa-miR-301a	CLIP-seq
MIRT943231	hsa-miR-301b	CLIP-seq
MIRT943232	hsa-miR-3125	CLIP-seq
MIRT943233	hsa-miR-3127-5p	CLIP-seq
MIRT943234	hsa-miR-3133	CLIP-seq
MIRT943235	hsa-miR-3150a-3p	CLIP-seq
MIRT943236	hsa-miR-3155	CLIP-seq
MIRT943237	hsa-miR-3155b	CLIP-seq
MIRT943238	hsa-miR-3157-5p	CLIP-seq
MIRT943239	hsa-miR-3173-3p	CLIP-seq
MIRT943240	hsa-miR-3175	CLIP-seq
MIRT943241	hsa-miR-3179	CLIP-seq
MIRT943242	hsa-miR-3180-5p	CLIP-seq
MIRT943243	hsa-miR-3622a-5p	CLIP-seq
MIRT943244	hsa-miR-3660	CLIP-seq
MIRT943245	hsa-miR-3666	CLIP-seq
MIRT943246	hsa-miR-378g	CLIP-seq
MIRT943247	hsa-miR-3916	CLIP-seq
MIRT943248	hsa-miR-3918	CLIP-seq
MIRT943249	hsa-miR-3922-5p	CLIP-seq
MIRT943250	hsa-miR-4270	CLIP-seq
MIRT943251	hsa-miR-4295	CLIP-seq
MIRT943252	hsa-miR-4299	CLIP-seq
MIRT943253	hsa-miR-4300	CLIP-seq
MIRT943254	hsa-miR-4436b-3p	CLIP-seq
MIRT943255	hsa-miR-4441	CLIP-seq
MIRT943256	hsa-miR-4456	CLIP-seq
MIRT943257	hsa-miR-4475	CLIP-seq
MIRT943258	hsa-miR-4488	CLIP-seq
MIRT943259	hsa-miR-4492	CLIP-seq
MIRT943260	hsa-miR-4498	CLIP-seq
MIRT943261	hsa-miR-4512	CLIP-seq
MIRT943262	hsa-miR-4526	CLIP-seq
MIRT943263	hsa-miR-4530	CLIP-seq
MIRT943264	hsa-miR-454	CLIP-seq
MIRT943265	hsa-miR-4645-3p	CLIP-seq
MIRT943266	hsa-miR-4645-5p	CLIP-seq
MIRT943267	hsa-miR-4656	CLIP-seq
MIRT943268	hsa-miR-4667-5p	CLIP-seq
MIRT943269	hsa-miR-4673	CLIP-seq
MIRT943270	hsa-miR-4675	CLIP-seq
MIRT943271	hsa-miR-4690-3p	CLIP-seq
MIRT943272	hsa-miR-4695-5p	CLIP-seq
MIRT943273	hsa-miR-4696	CLIP-seq
MIRT943274	hsa-miR-4697-5p	CLIP-seq
MIRT943275	hsa-miR-4700-5p	CLIP-seq
MIRT943276	hsa-miR-4708-3p	CLIP-seq
MIRT943277	hsa-miR-4727-5p	CLIP-seq
MIRT943278	hsa-miR-4731-5p	CLIP-seq
MIRT943279	hsa-miR-4733-3p	CLIP-seq
MIRT943280	hsa-miR-4741	CLIP-seq
MIRT943281	hsa-miR-4753-5p	CLIP-seq
MIRT943282	hsa-miR-4763-3p	CLIP-seq
MIRT943283	hsa-miR-4769-3p	CLIP-seq
MIRT943284	hsa-miR-4772-3p	CLIP-seq
MIRT943285	hsa-miR-484	CLIP-seq
MIRT943286	hsa-miR-485-5p	CLIP-seq
MIRT943287	hsa-miR-506	CLIP-seq
MIRT943288	hsa-miR-513a-5p	CLIP-seq
MIRT943289	hsa-miR-520d-5p	CLIP-seq
MIRT943290	hsa-miR-524-5p	CLIP-seq
MIRT943291	hsa-miR-532-3p	CLIP-seq
MIRT943292	hsa-miR-548q	CLIP-seq
MIRT943293	hsa-miR-558	CLIP-seq
MIRT943294	hsa-miR-566	CLIP-seq
MIRT943295	hsa-miR-583	CLIP-seq
MIRT943296	hsa-miR-589	CLIP-seq
MIRT943297	hsa-miR-622	CLIP-seq
MIRT943298	hsa-miR-629	CLIP-seq
MIRT943299	hsa-miR-637	CLIP-seq
MIRT943300	hsa-miR-671-5p	CLIP-seq
MIRT943301	hsa-miR-760	CLIP-seq
MIRT943302	hsa-miR-762	CLIP-seq
MIRT943303	hsa-miR-766	CLIP-seq
MIRT943304	hsa-miR-920	CLIP-seq
MIRT943305	hsa-miR-922	CLIP-seq
MIRT943306	hsa-miR-939	CLIP-seq
MIRT943307	hsa-miR-96	CLIP-seq
MIRT943252	hsa-miR-4299	CLIP-seq
MIRT943256	hsa-miR-4456	CLIP-seq
MIRT943292	hsa-miR-548q	CLIP-seq
MIRT943301	hsa-miR-760	CLIP-seq
MIRT1979284	hsa-miR-103a	CLIP-seq
MIRT1979285	hsa-miR-107	CLIP-seq
MIRT943211	hsa-miR-124	CLIP-seq
MIRT1979286	hsa-miR-1266	CLIP-seq
MIRT943214	hsa-miR-1271	CLIP-seq
MIRT1979287	hsa-miR-1275	CLIP-seq
MIRT943217	hsa-miR-130a	CLIP-seq
MIRT943218	hsa-miR-130b	CLIP-seq
MIRT943220	hsa-miR-148a	CLIP-seq
MIRT943221	hsa-miR-148b	CLIP-seq
MIRT943222	hsa-miR-152	CLIP-seq
MIRT943223	hsa-miR-1587	CLIP-seq
MIRT943224	hsa-miR-1825	CLIP-seq
MIRT943230	hsa-miR-301a	CLIP-seq
MIRT943231	hsa-miR-301b	CLIP-seq
MIRT943233	hsa-miR-3127-5p	CLIP-seq
MIRT943236	hsa-miR-3155	CLIP-seq
MIRT943237	hsa-miR-3155b	CLIP-seq
MIRT1979288	hsa-miR-3178	CLIP-seq
MIRT1979289	hsa-miR-3622a-3p	CLIP-seq
MIRT943243	hsa-miR-3622a-5p	CLIP-seq
MIRT1979290	hsa-miR-3622b-3p	CLIP-seq
MIRT943245	hsa-miR-3666	CLIP-seq
MIRT943246	hsa-miR-378g	CLIP-seq
MIRT943248	hsa-miR-3918	CLIP-seq
MIRT1979291	hsa-miR-3944-5p	CLIP-seq
MIRT1979292	hsa-miR-4257	CLIP-seq
MIRT1979293	hsa-miR-4261	CLIP-seq
MIRT1979294	hsa-miR-4267	CLIP-seq
MIRT943251	hsa-miR-4295	CLIP-seq
MIRT943254	hsa-miR-4436b-3p	CLIP-seq
MIRT1979295	hsa-miR-4447	CLIP-seq
MIRT1979296	hsa-miR-4462	CLIP-seq
MIRT1979297	hsa-miR-4472	CLIP-seq
MIRT943259	hsa-miR-4492	CLIP-seq
MIRT943260	hsa-miR-4498	CLIP-seq
MIRT1979298	hsa-miR-4518	CLIP-seq
MIRT1979299	hsa-miR-4525	CLIP-seq
MIRT943264	hsa-miR-454	CLIP-seq
MIRT1979300	hsa-miR-4640-5p	CLIP-seq
MIRT1979301	hsa-miR-4649-3p	CLIP-seq
MIRT1979302	hsa-miR-4651	CLIP-seq
MIRT943267	hsa-miR-4656	CLIP-seq
MIRT1979303	hsa-miR-4665-5p	CLIP-seq
MIRT943270	hsa-miR-4675	CLIP-seq
MIRT1979304	hsa-miR-4691-3p	CLIP-seq
MIRT943276	hsa-miR-4708-3p	CLIP-seq
MIRT1979305	hsa-miR-4723-5p	CLIP-seq
MIRT1979306	hsa-miR-4726-5p	CLIP-seq
MIRT943280	hsa-miR-4741	CLIP-seq
MIRT1979307	hsa-miR-4783-5p	CLIP-seq
MIRT943285	hsa-miR-484	CLIP-seq
MIRT943287	hsa-miR-506	CLIP-seq
MIRT943295	hsa-miR-583	CLIP-seq
MIRT1979308	hsa-miR-608	CLIP-seq
MIRT1979309	hsa-miR-625	CLIP-seq
MIRT1979310	hsa-miR-661	CLIP-seq
MIRT943302	hsa-miR-762	CLIP-seq
MIRT943303	hsa-miR-766	CLIP-seq
MIRT1979311	hsa-miR-885-3p	CLIP-seq
MIRT943307	hsa-miR-96	CLIP-seq
MIRT2214492	hsa-miR-1200	CLIP-seq
MIRT2214493	hsa-miR-4324	CLIP-seq
MIRT2214494	hsa-miR-4328	CLIP-seq
MIRT2214495	hsa-miR-544b	CLIP-seq
MIRT943223	hsa-miR-1587	CLIP-seq
MIRT943233	hsa-miR-3127-5p	CLIP-seq
MIRT943246	hsa-miR-378g	CLIP-seq
MIRT943248	hsa-miR-3918	CLIP-seq
MIRT943252	hsa-miR-4299	CLIP-seq
MIRT943256	hsa-miR-4456	CLIP-seq
MIRT943259	hsa-miR-4492	CLIP-seq
MIRT943260	hsa-miR-4498	CLIP-seq
MIRT943267	hsa-miR-4656	CLIP-seq
MIRT943270	hsa-miR-4675	CLIP-seq
MIRT943280	hsa-miR-4741	CLIP-seq
MIRT943292	hsa-miR-548q	CLIP-seq
MIRT943301	hsa-miR-760	CLIP-seq
MIRT943302	hsa-miR-762	CLIP-seq
MIRT2518719	hsa-miR-1197	CLIP-seq
MIRT2518720	hsa-miR-1255a	CLIP-seq
MIRT2518721	hsa-miR-1255b	CLIP-seq
MIRT2518722	hsa-miR-4450	CLIP-seq
MIRT2518719	hsa-miR-1197	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005654	Component	Nucleoplasm	IDA
GO:0005739	Component	Mitochondrion	IDA
GO:0005886	Component	Plasma membrane	IEA
GO:0007167	Process	Enzyme-linked receptor protein signaling pathway	IEA
GO:0007528	Process	Neuromuscular junction development	IBA
GO:0007528	Process	Neuromuscular junction development	IEA
GO:0008289	Function	Lipid binding	IEA
GO:0016020	Component	Membrane	IEA
GO:0019901	Function	Protein kinase binding	IBA
GO:0019901	Function	Protein kinase binding	IDA	20603078
GO:0019901	Function	Protein kinase binding	IEA
GO:0031594	Component	Neuromuscular junction	IEA
GO:0035022	Process	Positive regulation of Rac protein signal transduction	IEA
GO:0035091	Function	Phosphatidylinositol binding	IEA
GO:0035591	Function	Signaling adaptor activity	IEA
GO:0043113	Process	Receptor clustering	IEA
GO:0045202	Component	Synapse	IEA
GO:0045211	Component	Postsynaptic membrane	IEA
GO:0061098	Process	Positive regulation of protein tyrosine kinase activity	IDA	20603078
GO:1904395	Process	Positive regulation of skeletal muscle acetylcholine-gated channel clustering	IEA

Other IDs

• MIM: 610285
• HGNC: 26594
• e!Ensembl: ENSG00000175920

Protein

• UniProt ID: Q18PE1
• Protein name: Protein Dok-7 (Downstream of tyrosine kinase 7)
• Protein function: Probable muscle-intrinsic activator of MUSK that plays an essential role in neuromuscular synaptogenesis. Acts in aneural activation of MUSK and subsequent acetylcholine receptor (AchR) clustering in myotubes. Induces autophosphorylation of MUSK
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF02174	IRS	110 → 204	PTB domain (IRS-1 type)	Domain

• Tissue specificity: TISSUE SPECIFICITY: Preferentially expressed in skeletal muscle and heart. Present in thigh muscle, diaphragm and heart but not in the liver or spleen (at protein level). {ECO:0000269|PubMed:16794080}.
• Sequence:

  MTEAALVEGQVKLRDGKKWKSRWLVLRKPSPVADCLLMLVYKDKSERIKGLRERSSLTLE
  DICGLEPGLPYEGLVHTLAIVCLSQAIMLGFDSHEAMCAWDARIRYALGEVHRFHVTVAP
  GTKLESGPATLHLCNDVLVLARDIPPAVTGQWKLSDLRRYGAVPSGFIFEGGTRCGYWAG
  VFFLSSAEGEQISFLFDCIVRGISPTKGPFGLRPVLPDPSPPGPSTVEERVAQEALETLQ
  LEKRLSLLSHAGRPGSGGDDRSLSSSSSEASHLDVSASSRLTAWPEQSSSSASTSQEGPR
  PAAAQAAGEAMVGASRPPPKPLRPRQLQEVGRQSSSDSGIATGSHSSYSSSLSSYAGSSL
  DVWRATDELGSLLSLPAAGAPEPSLCTCLPGTVEYQVPTSLRAHYDTPRSLCLAPRDHSP
  PSQGSPGNSAARDSGGQTSAGCPSGWLGTRRRGLVMEAPQGSEATLPGPAPGEPWEAGGP
  HAGPPPAFFSACPVCGGLKVNPPP

• Sequence length: 504

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Abnormality of the musculature	Likely pathogenic	rs762345055	RCV001814255	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Congenital myasthenic syndrome	Likely pathogenic; Pathogenic	rs1168106708, rs606231128, rs606231129, rs118203994, rs606231133, rs771995943, rs763262694, rs2475116680, rs775583136, rs1349476281, rs794727884, rs770987150, rs768892432, rs606231132, rs571769859	RCV002282563 RCV000235027 RCV001174846 RCV005887165 RCV005430911 RCV003331339 RCV002470160 RCV002510384 RCV002282177 RCV003479149 RCV003230537 RCV005056424 RCV004768550 RCV002271602 RCV005057105	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Congenital myasthenic syndrome 10	Likely pathogenic; Pathogenic	rs1449351306, rs1490214819, rs2109417797, rs1728650830, rs745941308, rs2109388978, rs1168106708, rs2109417343, rs2109369117, rs1229979805, rs2109336441, rs1210035894, rs779798129, rs1727094027, rs606231128, rs606231129, rs606231130, rs606231131, rs606231132, rs118203994, rs118203995, rs863223277, rs606231133, rs1728633687, rs771995943, rs763262694, rs1248986109, rs2475116505, rs2475116637, rs794727884, rs754633490, rs761899995, rs797045040, rs2475008526, rs797045528, rs1259593300, rs1389245765, rs1728646811, rs2475114996, rs1268475752, rs1480670755, rs2475116375, rs778172294, rs1246160310, rs556834250, rs1355424790, rs749671160, rs2475110673, rs1237414916, rs2475008871, rs2475112419, rs2475115425, rs1253289854, rs769699131, rs2474961706, rs2475116712, rs2475113873, rs2475075544, rs2475110229, rs2474995471, rs781227659, rs776722884, rs2474962598, rs1460112018, rs775583136, rs1553850100, rs1349476281, rs1553846331, rs756015202, rs770987150, rs768892432, rs1560224831, rs1560200925, rs544278158, rs1258346283, rs1577153029, rs775544277, rs1577153124, rs762345055, rs1727096342, rs778227501, rs1728671600, rs769850502, rs550024569, rs571769859, rs1182982672, rs1727731607	RCV005027329 RCV001376831 RCV001388515 RCV001387589 RCV001381053 RCV001526436 RCV003771716 RCV001805752 RCV001969217 RCV001893087 RCV002000087 RCV002037309 RCV001942006 RCV001929294 RCV002030635 RCV000001335 RCV000001336 RCV000001337 RCV000001338 RCV000001339 RCV000001340 RCV000001341 RCV000001342 RCV000001345 RCV002251278 RCV003774920 RCV003340496 RCV002651795 RCV002651796 RCV003104313 RCV001390616 RCV002671810 RCV000191080 RCV000191079 RCV002814752 RCV000194361 RCV002957406 RCV001383180 RCV003037625 RCV003778833 RCV003779010 RCV003779011 RCV003779012 RCV005216115 RCV003782020 RCV003782240 RCV003795879 RCV003795905 RCV003796003 RCV003781026 RCV003781027 RCV003789521 RCV003795453 RCV003790249 RCV003788429 RCV003796178 RCV003796336 RCV003808240 RCV003793667 RCV003801284 RCV003794863 RCV003800329 RCV003807053 RCV003809281 RCV003802250 RCV003817775 RCV003801737 RCV003813245 RCV003812949 RCV005023577 RCV000679965 RCV000502556 RCV000001343 RCV000533620 RCV000655895 RCV000655928 RCV001228448 RCV001390615 RCV000707721 RCV000810302 RCV000802260 RCV000799383 RCV002503146 RCV000991420 RCV003769311 RCV001003495 RCV001004170 RCV002551721 RCV001058195 RCV001043130 RCV001059592 RCV001058583 RCV001041551 RCV001036401 RCV001222325 RCV001213559 RCV001202717 RCV001241501	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
DOK7-related disorder	Pathogenic; Likely pathogenic	rs606231128, rs606231129, rs2475116151, rs1349476281, rs550024569	RCV003398412 RCV003415615 RCV003416682 RCV003403229 RCV004753239	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Fetal akinesia deformation sequence 1	Likely pathogenic; Pathogenic	rs1490214819, rs2109417797, rs1728650830, rs745941308, rs1168106708, rs2109369117, rs1229979805, rs2109336441, rs1210035894, rs779798129, rs1727094027, rs606231128, rs606231129, rs606231130, rs606231131, rs606231132, rs118203995, rs606231133, rs771995943, rs1248986109, rs2475116505, rs2475116637, rs794727884, rs754633490, rs761899995, rs797045040, rs2475008526, rs797045528, rs1259593300, rs1389245765, rs1728646811, rs2475114996, rs1268475752, rs1480670755, rs2475116375, rs778172294, rs1246160310, rs556834250, rs1355424790, rs749671160, rs2475110673, rs1237414916, rs2475008871, rs2475112419, rs2475115425, rs1253289854, rs769699131, rs2474961706, rs2475116712, rs2475113873, rs2475075544, rs2475110229, rs2474995471, rs781227659, rs776722884, rs2474962598, rs775583136, rs1349476281, rs770987150, rs768892432, rs1560224831, rs1560200925, rs544278158, rs1258346283, rs775544277, rs762345055, rs1727096342, rs778227501, rs1728671600, rs769850502, rs550024569, rs571769859, rs1182982672, rs1727731607	RCV001376831 RCV001388515 RCV001387589 RCV001381053 RCV003771716 RCV001969217 RCV001893087 RCV002000087 RCV002037309 RCV001942006 RCV001929294 RCV002030635 RCV000560473 RCV000548686 RCV003764508 RCV000641531 RCV001383863 RCV001851535 RCV000810664 RCV003774920 RCV002651795 RCV002651796 RCV003104313 RCV001390616 RCV002671810 RCV000641538 RCV001223983 RCV002814752 RCV003765216 RCV002957406 RCV001383180 RCV003037625 RCV003778833 RCV003779010 RCV003779011 RCV003779012 RCV005216115 RCV003782020 RCV003782240 RCV003795879 RCV003795905 RCV003796003 RCV003781026 RCV003781027 RCV003789521 RCV003795453 RCV003790249 RCV003788429 RCV003796178 RCV003796336 RCV003808240 RCV003793667 RCV003801284 RCV003794863 RCV003800329 RCV003807053 RCV003809281 RCV003802250 RCV003817775 RCV003801737 RCV003813245 RCV003812949 RCV001036855 RCV003766941 RCV000533620 RCV000679963 RCV001390615 RCV000707721 RCV000810302 RCV000802260 RCV000799383 RCV000987399 RCV003769311 RCV001862734 RCV002551721 RCV001058195 RCV001043130 RCV001059592 RCV001058583 RCV001041551 RCV001036401 RCV001222325 RCV001213559 RCV001202717 RCV001241501	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Fetal akinesia deformation sequence 3	Likely pathogenic; Pathogenic	rs1449351306, rs1728650830, rs1490214819, rs1210035894, rs606231128, rs606231129, rs606231131, rs606231132, rs118203995, rs606231133, rs771995943, rs2109312461, rs763262694, rs1248986109, rs761899995, rs797045528, rs1259593300, rs1286718786, rs1728646811, rs2475111580, rs2475109793, rs2475008261, rs2475118166, rs2475110434, rs6850908, rs763619811, rs1291304798, rs2475110217, rs2475114996, rs2475116486, rs2475053000, rs1359635065, rs2475052908, rs768526890, rs2475110558, rs898501852, rs556834250, rs1355424790, rs2475110727, rs1460112018, rs1422350586, rs767745850, rs2475115215, rs2475076757, rs2475115360, rs768915955, rs2474962475, rs2475117449, rs1229979805, rs775583136, rs1349476281, rs794727884, rs770987150, rs768892432, rs1560224831, rs1560200925, rs778172294, rs150376433, rs769850502, rs550024569, rs571769859	RCV005027329 RCV003469734 RCV003464158 RCV005025521 RCV001535493 RCV001050390 RCV003460402 RCV003466776 RCV004566668 RCV003232983 RCV003471305 RCV003232996 RCV003475390 RCV003459774 RCV003468880 RCV003468882 RCV004572469 RCV003469177 RCV004577034 RCV003475586 RCV003459979 RCV003466212 RCV003466213 RCV003459982 RCV003459983 RCV003466214 RCV003466215 RCV003466216 RCV003459984 RCV003466217 RCV003466218 RCV003475587 RCV003466219 RCV003466220 RCV003466221 RCV003466222 RCV003466223 RCV003466224 RCV003466225 RCV003466226 RCV003466227 RCV004573305 RCV004573306 RCV004575830 RCV005023577 RCV004575832 RCV004575833 RCV004575834 RCV004575835 RCV004575836 RCV004575837 RCV004575838 RCV004575839 RCV004575840 RCV003470614 RCV000767366 RCV003470751 RCV003465547 RCV003459655 RCV003465641 RCV003467438 RCV002503146 RCV003467569 RCV001795816 RCV003467708 RCV003462755 RCV003469358	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Rett syndrome	Likely pathogenic; Pathogenic	rs606231129	RCV001804707	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ritscher-Schinzel syndrome 2	Pathogenic; Likely pathogenic	rs606231128, rs606231132, rs769850502	RCV005861014 RCV005861187 RCV005861193	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Clear cell carcinoma of kidney	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL ANOMALY OF CARDIOVASCULAR SYSTEM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL MYASTHENIC SYNDROME IB	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FETAL AKINESIA DEFORMATION SEQUENCE	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GALLSTONES	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERLIPIDEMIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MOYAMOYA DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYASTHENIC SYNDROME, CONGENITAL, 10	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYASTHENIC SYNDROMES, CONGENITAL	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PENA-SHOKEIR SYNDROME TYPE I	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERIPHERAL VASCULAR DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POSTSYNAPTIC CONGEN MYASTHENIC SYNDROMES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POSTSYNAPTIC CONGENITAL MYASTHENIC SYNDROME	—	Orphanet Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPONDYLOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Akinesia	Akinesia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	23785402		★☆☆☆☆ Found in Text Mining only
Arthrogryposis	Arthrogryposis multiplex congenita	HPO_DG			★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	26552645		★☆☆☆☆ Found in Text Mining only
Attention Deficit Disorder with Hyperactivity	Attention deficit hyperactivity disorder	Pubtator	32661301	Associate	★☆☆☆☆ Found in Text Mining only
BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY	Bietti Crystalline Dystrophy	BEFREE	19797200		★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar disorder	Pubtator	28115744	Associate	★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	BEFREE	20554332		★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	23054610, 28393246		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	23054610, 30829272	Associate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	28393246, 37122728	Inhibit	★☆☆☆☆ Found in Text Mining only
Bulbar palsy	Bulbar palsy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	HPO_DG			★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	28393246, 30431081		★☆☆☆☆ Found in Text Mining only
Chronic mountain sickness	Mountain sickness	BEFREE	16305600		★☆☆☆☆ Found in Text Mining only
Cognitive Dysfunction	Cognition disorder	Pubtator	27273350	Associate	★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of lung	Pulmonary hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital muscular dystrophy (disorder)	Congenital muscular dystrophy	BEFREE	22884442		★☆☆☆☆ Found in Text Mining only
Congenital myasthenic syndrome ib	Myasthenic Syndrome	GENOMICS_ENGLAND_DG	16917026, 18626973, 30266093		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital myasthenic syndrome ib	Myasthenic Syndrome	UNIPROT_DG	16917026, 17439981, 20012313, 20603078, 22661499		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital myasthenic syndrome ib	Myasthenic Syndrome	CLINVAR_DG	16917026, 17452375, 18165682, 18626973, 19837590, 20012313, 20458068, 20554332, 21520333, 21850686, 2261499, 22661499, 23219351, 23790237, 25237101, 26633545		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital myasthenic syndrome ib	Myasthenic Syndrome	BEFREE	25237101		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital myasthenic syndrome ib	Myasthenic Syndrome	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Artery Disease	Coronary artery disease	Pubtator	23383292, 27004414	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Artery Disease	Coronary artery disease	BEFREE	28237083		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Disease	Coronary artery disease	Pubtator	21347282	Associate	★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic fibrosis	Pubtator	21544602	Associate	★☆☆☆☆ Found in Text Mining only
Dandy-Walker Syndrome	Dandy-Walker Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dermatitis Atopic	Atopic dermatitis	Pubtator	36364938	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	27004414	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	24985009		★☆☆☆☆ Found in Text Mining only
Distal amyotrophy	Distal amyotrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dyslipidemias	Dyslipidemias	Pubtator	19060906	Associate	★☆☆☆☆ Found in Text Mining only
ENDPLATE ACETYLCHOLINESTERASE DEFICIENCY (disorder)	Endplate acetylcholinesterase deficiency	BEFREE	21952943		★☆☆☆☆ Found in Text Mining only
Facial paralysis	Facial paralysis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Fetal akinesia deformation sequence	Fetal Akinesia Deformation Sequence	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Generalized amyotrophy	Amyotrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gross motor development delay	Developmental delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperlipidemia Familial Combined	Hyperlipidemia	Pubtator	19750004	Associate	★☆☆☆☆ Found in Text Mining only
Hyperlipidemia, Familial Combined	Hyperlipidemia	BEFREE	19750004		★☆☆☆☆ Found in Text Mining only
Lambert-Eaton Myasthenic Syndrome	Lambert-Eaton Myasthenic Syndrome	BEFREE	22884442, 29395672		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	30348947		★☆☆☆☆ Found in Text Mining only
Lipoidosis	Lipoidosis	BEFREE	20012313		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	28393246	Inhibit	★☆☆☆☆ Found in Text Mining only
Lymphangioma, Cystic	Cystic hygroma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	36626435	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	23054610, 28393246		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	28393246, 30431081		★☆☆☆☆ Found in Text Mining only
Marfan Syndrome	Marfan Syndrome	BEFREE	27163200		★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome	Metabolic syndrome	Pubtator	31991592	Associate	★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Motor Neuron Disease	Motor neuron disease	Pubtator	35468848	Associate	★☆☆☆☆ Found in Text Mining only
Muscular Dystrophies, Limb-Girdle	Limb-Girdle Muscular Dystrophy	GENOMICS_ENGLAND_DG	19261599		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy	Muscular dystrophy	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy Duchenne	Duchenne muscular dystrophy	Pubtator	38057384	Associate	★☆☆☆☆ Found in Text Mining only
Myasthenia Gravis	Myasthenia Gravis	BEFREE	23637281, 24425145, 27658713		★☆☆☆☆ Found in Text Mining only
Myasthenias	Myasthenia Gravis	BEFREE	18626973, 20610155, 21952943, 25237101		★☆☆☆☆ Found in Text Mining only
Myasthenias	Myasthenia Gravis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Myasthenic Syndrome	Myasthenic Syndrome	BEFREE	22884442, 29395672		★☆☆☆☆ Found in Text Mining only
Myasthenic Syndromes Congenital	Myasthenic syndrome	Pubtator	20458068, 20562457, 23219351, 24183479, 25849006, 26501342, 28024842, 36308527, 36579833, 37721175	Associate	★☆☆☆☆ Found in Text Mining only
Myasthenic Syndromes, Congenital	Myasthenic Syndrome	BEFREE	16917026, 17439981, 17452375, 18161030, 18165682, 18180250, 19261599, 19837590, 20012313, 20371544, 20458068, 20554332, 20610155, 21305573, 21952943, 22661499, 23219351, 23278577, 23790237, 23831158, 24183479, 24425145, 25849006, 26552645, 29054425, 29395675, 30032336, 31730230		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myasthenic Syndromes, Congenital	Myasthenic Syndrome	LHGDN	16917026, 17439981, 18161030		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myasthenic Syndromes, Congenital	Myasthenic Syndrome	CLINVAR_DG	16917026, 19261599, 22230109		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myasthenic Syndromes, Congenital	Myasthenic Syndrome	GENOMICS_ENGLAND_DG	19261599		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myopathy	Myopathy	BEFREE	20610155, 31561939		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	23054610, 29990858		★☆☆☆☆ Found in Text Mining only
Neuromuscular Diseases	Neuromuscular Diseases	BEFREE	25237101, 31848047		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	32584610	Associate	★☆☆☆☆ Found in Text Mining only
Pena Shokeir syndrome type 1	Pena-shokeir syndrome	Pubtator	25537362	Associate	★☆☆☆☆ Found in Text Mining only
Pena-Shokeir syndrome type I	Pena Shokeir syndrome	CLINVAR_DG	16917026, 17452375, 18165682, 18626973, 19837590, 20012313, 20458068, 20554332, 21520333, 21850686, 2261499, 22661499, 23219351, 23790237, 25237101		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pena-Shokeir syndrome type I	Pena Shokeir syndrome	GENOMICS_ENGLAND_DG	16917026		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pena-Shokeir syndrome type I	Pena Shokeir syndrome	BEFREE	19261599, 31730230		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pena-Shokeir syndrome type I	Pena Shokeir syndrome	ORPHANET_DG	19261599		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pena-Shokeir syndrome type I	Pena Shokeir syndrome	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Posteriorly rotated ear	Posteriorly Rotated Ear	HPO_DG			★☆☆☆☆ Found in Text Mining only
Postsynaptic congenital myasthenic syndromes	Myasthenic Syndrome	Orphanet			★☆☆☆☆ Found in Text Mining only
Proximal amyotrophy	Amyotrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pterygium	Pterygium	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	BEFREE	20554332		★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Respiratory Failure	Respiratory Failure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	28343076		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	36626435, 39272022	Associate	★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	36709279	Associate	★☆☆☆☆ Found in Text Mining only
Vocal Cord Paralysis	Vocal Cord Paralysis	BEFREE	20554332		★☆☆☆☆ Found in Text Mining only