PMM2 (phosphomannomutase 2)

Gene

• Entrez ID: 5373
• Gene name: Phosphomannomutase 2
• Gene symbol: PMM2
• Synonyms (NCBI Gene): CDG1, CDG1a, CDGS, PMI, PMI1, PMM 2
• Chromosome: 16
• Chromosome location: 16p13.2
• Summary: The protein encoded by this gene catalyzes the isomerization of mannose 6-phosphate to mannose 1-phosphate, which is a precursor to GDP-mannose necessary for the synthesis of dolichol-P-oligosaccharides. Mutations in this gene have been shown to cause def

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs28936415	G>A	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs80338700	C>G,T	Pathogenic	Coding sequence variant, missense variant
rs80338701	C>A,T	Pathogenic	Synonymous variant, coding sequence variant, missense variant
rs80338702	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs80338703	G>A	Pathogenic-likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs80338704	A>G	Pathogenic-likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs104894525	G>A,T	Pathogenic-likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs104894526	C>T	Pathogenic-likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs104894527	G>T	Pathogenic	Intron variant, coding sequence variant, missense variant
rs104894530	G>C	Pathogenic	Coding sequence variant, missense variant
rs104894533	T>G	Pathogenic	5 prime UTR variant, coding sequence variant, missense variant
rs104894534	T>C	Likely-pathogenic	5 prime UTR variant, coding sequence variant, missense variant
rs139716296	T>C,G	Pathogenic	Intron variant, splice donor variant
rs141498002	G>A,T	Conflicting-interpretations-of-pathogenicity, pathogenic	Coding sequence variant, missense variant
rs146990448	C>G,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs148032587	G>A	Pathogenic-likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs149530060	C>G,T	Pathogenic	Coding sequence variant, 5 prime UTR variant, stop gained, missense variant
rs149849259	G>A,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs150577656	T>A,C,G	Likely-pathogenic	Coding sequence variant, missense variant
rs150719105	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs190521996	T>C	Pathogenic-likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs191295403	C>T	Pathogenic	Stop gained, coding sequence variant
rs199562225	C>T	Pathogenic-likely-pathogenic	Stop gained, coding sequence variant
rs200503569	C>T	Likely-pathogenic, pathogenic-likely-pathogenic	Missense variant, coding sequence variant
rs201556985	C>G	Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, 5 prime UTR variant
rs367852554	G>A	Likely-pathogenic	Intron variant
rs368582085	T>C	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs376754460	G>A,C,T	Likely-pathogenic	Missense variant, 5 prime UTR variant, coding sequence variant
rs398123309	G>A,C	Pathogenic-likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs398123312	TA>GC	Pathogenic	Missense variant, 5 prime UTR variant, coding sequence variant
rs532870929	T>C	Pathogenic-likely-pathogenic	Missense variant, coding sequence variant
rs746610168	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs749720760	T>C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, 5 prime UTR variant, coding sequence variant
rs753632453	A>G,T	Pathogenic	Missense variant, coding sequence variant
rs754407762	C>G,T	Pathogenic	Missense variant, stop gained, coding sequence variant
rs755008774	A>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs757394782	G>C	Pathogenic	Splice acceptor variant
rs764353860	C>T	Pathogenic-likely-pathogenic	Coding sequence variant, 5 prime UTR variant, stop gained
rs765433263	C>A,T	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs769648248	C>G,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, intron variant, missense variant
rs770458492	C>G	Pathogenic	Coding sequence variant, missense variant
rs771240150	AA>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs780581250	T>C	Pathogenic	Coding sequence variant, missense variant
rs940938678	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1057516323	->A	Pathogenic-likely-pathogenic	Frameshift variant, coding sequence variant
rs1057516372	A>G	Likely-pathogenic	Splice acceptor variant
rs1057516757	->G	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1057516815	A>-	Likely-pathogenic	Intron variant, frameshift variant, coding sequence variant
rs1057516886	G>A	Likely-pathogenic	Stop gained, coding sequence variant
rs1057517110	T>C	Pathogenic	Coding sequence variant, missense variant
rs1057517117	G>A	Likely-pathogenic	Splice donor variant
rs1057517183	G>A	Likely-pathogenic	Splice donor variant
rs1057520708	C>T	Pathogenic	Stop gained, 5 prime UTR variant, coding sequence variant
rs1060499598	G>A	Pathogenic-likely-pathogenic	Intron variant, splice donor variant
rs1166138838	G>C,T	Likely-pathogenic	Intron variant, splice acceptor variant
rs1258107584	C>T	Likely-pathogenic	Intron variant
rs1274794195	GAAA>-	Likely-pathogenic	Coding sequence variant, splice acceptor variant
rs1339004837	T>-	Likely-pathogenic	Coding sequence variant, intron variant, frameshift variant
rs1555448897	A>T	Likely-pathogenic	Splice acceptor variant
rs1555448899	T>A	Likely-pathogenic	Stop gained, 5 prime UTR variant, coding sequence variant
rs1555448922	T>G	Likely-pathogenic	Splice donor variant
rs1555449314	G>-	Pathogenic, likely-pathogenic	Frameshift variant, coding sequence variant
rs1555449603	A>C	Likely-pathogenic	Splice acceptor variant
rs1555449604	G>C	Likely-pathogenic	Splice acceptor variant
rs1555449607	C>-	Pathogenic, likely-pathogenic	Frameshift variant, coding sequence variant
rs1555449617	C>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1555449780	A>G	Likely-pathogenic	Splice acceptor variant
rs1596489887	A>G	Likely-pathogenic	Coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT042073	hsa-miR-484	CLASH	23622248
MIRT1244437	hsa-miR-101	CLIP-seq
MIRT1244438	hsa-miR-1193	CLIP-seq
MIRT1244439	hsa-miR-1237	CLIP-seq
MIRT1244440	hsa-miR-1248	CLIP-seq
MIRT1244441	hsa-miR-1255a	CLIP-seq
MIRT1244442	hsa-miR-1255b	CLIP-seq
MIRT1244443	hsa-miR-1287	CLIP-seq
MIRT1244444	hsa-miR-1298	CLIP-seq
MIRT1244445	hsa-miR-1299	CLIP-seq
MIRT1244446	hsa-miR-1323	CLIP-seq
MIRT1244447	hsa-miR-144	CLIP-seq
MIRT1244448	hsa-miR-145	CLIP-seq
MIRT1244449	hsa-miR-151-3p	CLIP-seq
MIRT1244450	hsa-miR-1909	CLIP-seq
MIRT1244451	hsa-miR-198	CLIP-seq
MIRT1244452	hsa-miR-25	CLIP-seq
MIRT1244453	hsa-miR-298	CLIP-seq
MIRT740193	hsa-miR-29a	CLIP-seq
MIRT740194	hsa-miR-29b	CLIP-seq
MIRT740195	hsa-miR-29c	CLIP-seq
MIRT1244454	hsa-miR-3128	CLIP-seq
MIRT1244455	hsa-miR-3160-3p	CLIP-seq
MIRT1244456	hsa-miR-3190	CLIP-seq
MIRT1244457	hsa-miR-32	CLIP-seq
MIRT1244458	hsa-miR-3202	CLIP-seq
MIRT1244459	hsa-miR-363	CLIP-seq
MIRT1244460	hsa-miR-3667-3p	CLIP-seq
MIRT1244461	hsa-miR-367	CLIP-seq
MIRT1244462	hsa-miR-3689d	CLIP-seq
MIRT740192	hsa-miR-3925-3p	CLIP-seq
MIRT1244463	hsa-miR-3974	CLIP-seq
MIRT1244464	hsa-miR-412	CLIP-seq
MIRT1244465	hsa-miR-4487	CLIP-seq
MIRT1244466	hsa-miR-4533	CLIP-seq
MIRT1244467	hsa-miR-4677-3p	CLIP-seq
MIRT1244468	hsa-miR-4687-3p	CLIP-seq
MIRT740190	hsa-miR-4690-3p	CLIP-seq
MIRT1244469	hsa-miR-4713-3p	CLIP-seq
MIRT1244470	hsa-miR-4716-5p	CLIP-seq
MIRT1244471	hsa-miR-4720-5p	CLIP-seq
MIRT1244472	hsa-miR-4782-5p	CLIP-seq
MIRT1244473	hsa-miR-4786-5p	CLIP-seq
MIRT1244474	hsa-miR-4799-3p	CLIP-seq
MIRT1244475	hsa-miR-493	CLIP-seq
MIRT1244476	hsa-miR-516b	CLIP-seq
MIRT1244477	hsa-miR-548o	CLIP-seq
MIRT1244478	hsa-miR-556-5p	CLIP-seq
MIRT1244479	hsa-miR-558	CLIP-seq
MIRT1244480	hsa-miR-582-5p	CLIP-seq
MIRT1244481	hsa-miR-718	CLIP-seq
MIRT740191	hsa-miR-766	CLIP-seq
MIRT1244482	hsa-miR-769-5p	CLIP-seq
MIRT1244483	hsa-miR-875-3p	CLIP-seq
MIRT1244484	hsa-miR-92a	CLIP-seq
MIRT1244485	hsa-miR-92b	CLIP-seq
MIRT1244439	hsa-miR-1237	CLIP-seq
MIRT1244440	hsa-miR-1248	CLIP-seq
MIRT1244445	hsa-miR-1299	CLIP-seq
MIRT1244454	hsa-miR-3128	CLIP-seq
MIRT1244471	hsa-miR-4720-5p	CLIP-seq
MIRT1244472	hsa-miR-4782-5p	CLIP-seq
MIRT1244474	hsa-miR-4799-3p	CLIP-seq
MIRT1552418	hsa-miR-510	CLIP-seq
MIRT1244476	hsa-miR-516b	CLIP-seq
MIRT1244483	hsa-miR-875-3p	CLIP-seq
MIRT1244438	hsa-miR-1193	CLIP-seq
MIRT2072228	hsa-miR-1202	CLIP-seq
MIRT2072229	hsa-miR-1254	CLIP-seq
MIRT1244441	hsa-miR-1255a	CLIP-seq
MIRT1244442	hsa-miR-1255b	CLIP-seq
MIRT2072230	hsa-miR-1262	CLIP-seq
MIRT2072231	hsa-miR-127-3p	CLIP-seq
MIRT2072232	hsa-miR-1280	CLIP-seq
MIRT1244443	hsa-miR-1287	CLIP-seq
MIRT1244446	hsa-miR-1323	CLIP-seq
MIRT2072233	hsa-miR-1324	CLIP-seq
MIRT2072234	hsa-miR-1343	CLIP-seq
MIRT2072235	hsa-miR-1471	CLIP-seq
MIRT2072236	hsa-miR-147b	CLIP-seq
MIRT2072237	hsa-miR-1587	CLIP-seq
MIRT1244451	hsa-miR-198	CLIP-seq
MIRT2072238	hsa-miR-210	CLIP-seq
MIRT2072239	hsa-miR-2113	CLIP-seq
MIRT2072240	hsa-miR-24	CLIP-seq
MIRT2072241	hsa-miR-2467-3p	CLIP-seq
MIRT1244452	hsa-miR-25	CLIP-seq
MIRT740193	hsa-miR-29a	CLIP-seq
MIRT740194	hsa-miR-29b	CLIP-seq
MIRT740195	hsa-miR-29c	CLIP-seq
MIRT2072242	hsa-miR-3064-5p	CLIP-seq
MIRT2072243	hsa-miR-3065-3p	CLIP-seq
MIRT2072244	hsa-miR-30a	CLIP-seq
MIRT2072245	hsa-miR-30b	CLIP-seq
MIRT2072246	hsa-miR-30c	CLIP-seq
MIRT2072247	hsa-miR-30d	CLIP-seq
MIRT2072248	hsa-miR-30e	CLIP-seq
MIRT2072249	hsa-miR-3116	CLIP-seq
MIRT2072250	hsa-miR-3135	CLIP-seq
MIRT2072251	hsa-miR-3157-3p	CLIP-seq
MIRT1244455	hsa-miR-3160-3p	CLIP-seq
MIRT2072252	hsa-miR-3160-5p	CLIP-seq
MIRT1244456	hsa-miR-3190	CLIP-seq
MIRT2072253	hsa-miR-3192	CLIP-seq
MIRT2072254	hsa-miR-3194-5p	CLIP-seq
MIRT1244457	hsa-miR-32	CLIP-seq
MIRT1244458	hsa-miR-3202	CLIP-seq
MIRT2072255	hsa-miR-326	CLIP-seq
MIRT2072256	hsa-miR-330-5p	CLIP-seq
MIRT2072257	hsa-miR-3612	CLIP-seq
MIRT2072258	hsa-miR-3621	CLIP-seq
MIRT1244459	hsa-miR-363	CLIP-seq
MIRT2072259	hsa-miR-3652	CLIP-seq
MIRT2072260	hsa-miR-3656	CLIP-seq
MIRT2072261	hsa-miR-3657	CLIP-seq
MIRT2072262	hsa-miR-3663-3p	CLIP-seq
MIRT1244461	hsa-miR-367	CLIP-seq
MIRT2072263	hsa-miR-3678-3p	CLIP-seq
MIRT2072264	hsa-miR-3689a-3p	CLIP-seq
MIRT2072265	hsa-miR-3689c	CLIP-seq
MIRT1244462	hsa-miR-3689d	CLIP-seq
MIRT2072266	hsa-miR-371b-3p	CLIP-seq
MIRT2072267	hsa-miR-378g	CLIP-seq
MIRT2072268	hsa-miR-3908	CLIP-seq
MIRT2072269	hsa-miR-3913-3p	CLIP-seq
MIRT2072270	hsa-miR-3917	CLIP-seq
MIRT2072271	hsa-miR-3919	CLIP-seq
MIRT2072272	hsa-miR-3929	CLIP-seq
MIRT2072273	hsa-miR-3972	CLIP-seq
MIRT1244463	hsa-miR-3974	CLIP-seq
MIRT1244464	hsa-miR-412	CLIP-seq
MIRT2072274	hsa-miR-4283	CLIP-seq
MIRT2072275	hsa-miR-4418	CLIP-seq
MIRT2072276	hsa-miR-4419b	CLIP-seq
MIRT2072277	hsa-miR-4430	CLIP-seq
MIRT2072278	hsa-miR-4437	CLIP-seq
MIRT2072279	hsa-miR-4443	CLIP-seq
MIRT2072280	hsa-miR-4459	CLIP-seq
MIRT2072281	hsa-miR-4464	CLIP-seq
MIRT2072282	hsa-miR-4478	CLIP-seq
MIRT1244465	hsa-miR-4487	CLIP-seq
MIRT2072283	hsa-miR-4492	CLIP-seq
MIRT2072284	hsa-miR-4494	CLIP-seq
MIRT2072285	hsa-miR-4498	CLIP-seq
MIRT2072286	hsa-miR-4505	CLIP-seq
MIRT2072287	hsa-miR-4508	CLIP-seq
MIRT1244466	hsa-miR-4533	CLIP-seq
MIRT2072288	hsa-miR-4648	CLIP-seq
MIRT2072289	hsa-miR-4654	CLIP-seq
MIRT2072290	hsa-miR-4656	CLIP-seq
MIRT2072291	hsa-miR-4669	CLIP-seq
MIRT2072292	hsa-miR-4675	CLIP-seq
MIRT1244467	hsa-miR-4677-3p	CLIP-seq
MIRT1244468	hsa-miR-4687-3p	CLIP-seq
MIRT740190	hsa-miR-4690-3p	CLIP-seq
MIRT2072293	hsa-miR-4701-3p	CLIP-seq
MIRT2072294	hsa-miR-4717-5p	CLIP-seq
MIRT1244471	hsa-miR-4720-5p	CLIP-seq
MIRT2072295	hsa-miR-4728-3p	CLIP-seq
MIRT2072296	hsa-miR-4728-5p	CLIP-seq
MIRT2072297	hsa-miR-4734	CLIP-seq
MIRT2072298	hsa-miR-4741	CLIP-seq
MIRT2072299	hsa-miR-4748	CLIP-seq
MIRT2072300	hsa-miR-4763-5p	CLIP-seq
MIRT2072301	hsa-miR-4768-5p	CLIP-seq
MIRT2072302	hsa-miR-4769-5p	CLIP-seq
MIRT2072303	hsa-miR-4776-3p	CLIP-seq
MIRT2072304	hsa-miR-4792	CLIP-seq
MIRT1244474	hsa-miR-4799-3p	CLIP-seq
MIRT2072305	hsa-miR-4802-5p	CLIP-seq
MIRT2072306	hsa-miR-489	CLIP-seq
MIRT1244475	hsa-miR-493	CLIP-seq
MIRT2072307	hsa-miR-509-3-5p	CLIP-seq
MIRT2072308	hsa-miR-509-5p	CLIP-seq
MIRT2072309	hsa-miR-5096	CLIP-seq
MIRT2072310	hsa-miR-513a-3p	CLIP-seq
MIRT1244477	hsa-miR-548o	CLIP-seq
MIRT1244478	hsa-miR-556-5p	CLIP-seq
MIRT1244479	hsa-miR-558	CLIP-seq
MIRT2072311	hsa-miR-596	CLIP-seq
MIRT2072312	hsa-miR-604	CLIP-seq
MIRT2072313	hsa-miR-645	CLIP-seq
MIRT2072314	hsa-miR-647	CLIP-seq
MIRT2072315	hsa-miR-650	CLIP-seq
MIRT2072316	hsa-miR-661	CLIP-seq
MIRT2072317	hsa-miR-665	CLIP-seq
MIRT2072318	hsa-miR-7	CLIP-seq
MIRT1244481	hsa-miR-718	CLIP-seq
MIRT2072319	hsa-miR-762	CLIP-seq
MIRT1244484	hsa-miR-92a	CLIP-seq
MIRT1244485	hsa-miR-92b	CLIP-seq
MIRT2072320	hsa-miR-935	CLIP-seq
MIRT1244437	hsa-miR-101	CLIP-seq
MIRT1244438	hsa-miR-1193	CLIP-seq
MIRT2072229	hsa-miR-1254	CLIP-seq
MIRT2072230	hsa-miR-1262	CLIP-seq
MIRT2072231	hsa-miR-127-3p	CLIP-seq
MIRT1244443	hsa-miR-1287	CLIP-seq
MIRT1244446	hsa-miR-1323	CLIP-seq
MIRT2072233	hsa-miR-1324	CLIP-seq
MIRT1244447	hsa-miR-144	CLIP-seq
MIRT1244451	hsa-miR-198	CLIP-seq
MIRT2299491	hsa-miR-214	CLIP-seq
MIRT2299492	hsa-miR-22	CLIP-seq
MIRT2072240	hsa-miR-24	CLIP-seq
MIRT2072241	hsa-miR-2467-3p	CLIP-seq
MIRT1244452	hsa-miR-25	CLIP-seq
MIRT2072249	hsa-miR-3116	CLIP-seq
MIRT1244454	hsa-miR-3128	CLIP-seq
MIRT2072250	hsa-miR-3135	CLIP-seq
MIRT2299493	hsa-miR-3137	CLIP-seq
MIRT2072252	hsa-miR-3160-5p	CLIP-seq
MIRT2299494	hsa-miR-3169	CLIP-seq
MIRT1244456	hsa-miR-3190	CLIP-seq
MIRT1244457	hsa-miR-32	CLIP-seq
MIRT1244458	hsa-miR-3202	CLIP-seq
MIRT2299495	hsa-miR-338-3p	CLIP-seq
MIRT2299496	hsa-miR-3619-5p	CLIP-seq
MIRT2072258	hsa-miR-3621	CLIP-seq
MIRT1244459	hsa-miR-363	CLIP-seq
MIRT2072260	hsa-miR-3656	CLIP-seq
MIRT2072262	hsa-miR-3663-3p	CLIP-seq
MIRT1244461	hsa-miR-367	CLIP-seq
MIRT2072263	hsa-miR-3678-3p	CLIP-seq
MIRT2072264	hsa-miR-3689a-3p	CLIP-seq
MIRT2072265	hsa-miR-3689c	CLIP-seq
MIRT1244462	hsa-miR-3689d	CLIP-seq
MIRT2072268	hsa-miR-3908	CLIP-seq
MIRT740192	hsa-miR-3925-3p	CLIP-seq
MIRT2072272	hsa-miR-3929	CLIP-seq
MIRT1244463	hsa-miR-3974	CLIP-seq
MIRT2072274	hsa-miR-4283	CLIP-seq
MIRT2299497	hsa-miR-4302	CLIP-seq
MIRT2299498	hsa-miR-4323	CLIP-seq
MIRT2072276	hsa-miR-4419b	CLIP-seq
MIRT2072278	hsa-miR-4437	CLIP-seq
MIRT2072282	hsa-miR-4478	CLIP-seq
MIRT2072284	hsa-miR-4494	CLIP-seq
MIRT2072287	hsa-miR-4508	CLIP-seq
MIRT2299499	hsa-miR-452	CLIP-seq
MIRT2299500	hsa-miR-4530	CLIP-seq
MIRT1244466	hsa-miR-4533	CLIP-seq
MIRT2299501	hsa-miR-4650-5p	CLIP-seq
MIRT2299502	hsa-miR-4676-3p	CLIP-seq
MIRT740190	hsa-miR-4690-3p	CLIP-seq
MIRT2299503	hsa-miR-4690-5p	CLIP-seq
MIRT2072293	hsa-miR-4701-3p	CLIP-seq
MIRT1244471	hsa-miR-4720-5p	CLIP-seq
MIRT2072295	hsa-miR-4728-3p	CLIP-seq
MIRT2072296	hsa-miR-4728-5p	CLIP-seq
MIRT2072297	hsa-miR-4734	CLIP-seq
MIRT2299504	hsa-miR-4749-3p	CLIP-seq
MIRT2072300	hsa-miR-4763-5p	CLIP-seq
MIRT2072304	hsa-miR-4792	CLIP-seq
MIRT2299505	hsa-miR-4793-3p	CLIP-seq
MIRT1244474	hsa-miR-4799-3p	CLIP-seq
MIRT1244475	hsa-miR-493	CLIP-seq
MIRT2072309	hsa-miR-5096	CLIP-seq
MIRT2299506	hsa-miR-512-5p	CLIP-seq
MIRT2072310	hsa-miR-513a-3p	CLIP-seq
MIRT1244477	hsa-miR-548o	CLIP-seq
MIRT1244480	hsa-miR-582-5p	CLIP-seq
MIRT2072311	hsa-miR-596	CLIP-seq
MIRT2072312	hsa-miR-604	CLIP-seq
MIRT2072313	hsa-miR-645	CLIP-seq
MIRT2299507	hsa-miR-659	CLIP-seq
MIRT2072316	hsa-miR-661	CLIP-seq
MIRT1244481	hsa-miR-718	CLIP-seq
MIRT2299508	hsa-miR-761	CLIP-seq
MIRT740191	hsa-miR-766	CLIP-seq
MIRT1244484	hsa-miR-92a	CLIP-seq
MIRT1244485	hsa-miR-92b	CLIP-seq
MIRT2072320	hsa-miR-935	CLIP-seq
MIRT2072229	hsa-miR-1254	CLIP-seq
MIRT2072230	hsa-miR-1262	CLIP-seq
MIRT2072231	hsa-miR-127-3p	CLIP-seq
MIRT2072232	hsa-miR-1280	CLIP-seq
MIRT1244451	hsa-miR-198	CLIP-seq
MIRT2072241	hsa-miR-2467-3p	CLIP-seq
MIRT2072242	hsa-miR-3064-5p	CLIP-seq
MIRT2072249	hsa-miR-3116	CLIP-seq
MIRT2072250	hsa-miR-3135	CLIP-seq
MIRT1244455	hsa-miR-3160-3p	CLIP-seq
MIRT2072252	hsa-miR-3160-5p	CLIP-seq
MIRT1244456	hsa-miR-3190	CLIP-seq
MIRT2072257	hsa-miR-3612	CLIP-seq
MIRT2072258	hsa-miR-3621	CLIP-seq
MIRT2072260	hsa-miR-3656	CLIP-seq
MIRT2072262	hsa-miR-3663-3p	CLIP-seq
MIRT2072263	hsa-miR-3678-3p	CLIP-seq
MIRT1244462	hsa-miR-3689d	CLIP-seq
MIRT2072272	hsa-miR-3929	CLIP-seq
MIRT2072276	hsa-miR-4419b	CLIP-seq
MIRT2072282	hsa-miR-4478	CLIP-seq
MIRT1244465	hsa-miR-4487	CLIP-seq
MIRT2072284	hsa-miR-4494	CLIP-seq
MIRT2072286	hsa-miR-4505	CLIP-seq
MIRT2072288	hsa-miR-4648	CLIP-seq
MIRT2072289	hsa-miR-4654	CLIP-seq
MIRT2072293	hsa-miR-4701-3p	CLIP-seq
MIRT1244471	hsa-miR-4720-5p	CLIP-seq
MIRT2072297	hsa-miR-4734	CLIP-seq
MIRT2299504	hsa-miR-4749-3p	CLIP-seq
MIRT2072300	hsa-miR-4763-5p	CLIP-seq
MIRT2072302	hsa-miR-4769-5p	CLIP-seq
MIRT2072304	hsa-miR-4792	CLIP-seq
MIRT1244474	hsa-miR-4799-3p	CLIP-seq
MIRT2072309	hsa-miR-5096	CLIP-seq
MIRT2392736	hsa-miR-532-3p	CLIP-seq
MIRT1244478	hsa-miR-556-5p	CLIP-seq
MIRT1244479	hsa-miR-558	CLIP-seq
MIRT2072311	hsa-miR-596	CLIP-seq
MIRT2072312	hsa-miR-604	CLIP-seq
MIRT2072313	hsa-miR-645	CLIP-seq
MIRT2072314	hsa-miR-647	CLIP-seq
MIRT2072315	hsa-miR-650	CLIP-seq
MIRT2072316	hsa-miR-661	CLIP-seq
MIRT2392737	hsa-miR-662	CLIP-seq
MIRT2072254	hsa-miR-3194-5p	CLIP-seq
MIRT2439573	hsa-miR-4688	CLIP-seq
MIRT2439574	hsa-miR-4786-3p	CLIP-seq
MIRT2439575	hsa-miR-671-5p	CLIP-seq
MIRT2072230	hsa-miR-1262	CLIP-seq
MIRT2456773	hsa-miR-4328	CLIP-seq
MIRT2456774	hsa-miR-4493	CLIP-seq
MIRT2072293	hsa-miR-4701-3p	CLIP-seq
MIRT2072296	hsa-miR-4728-5p	CLIP-seq
MIRT2072316	hsa-miR-661	CLIP-seq
MIRT2072228	hsa-miR-1202	CLIP-seq
MIRT2596144	hsa-miR-1236	CLIP-seq
MIRT2072229	hsa-miR-1254	CLIP-seq
MIRT2072230	hsa-miR-1262	CLIP-seq
MIRT2596145	hsa-miR-1281	CLIP-seq
MIRT1244448	hsa-miR-145	CLIP-seq
MIRT2072235	hsa-miR-1471	CLIP-seq
MIRT2596146	hsa-miR-1915	CLIP-seq
MIRT1244451	hsa-miR-198	CLIP-seq
MIRT2596147	hsa-miR-2052	CLIP-seq
MIRT2596148	hsa-miR-2117	CLIP-seq
MIRT2299492	hsa-miR-22	CLIP-seq
MIRT2596149	hsa-miR-2278	CLIP-seq
MIRT2072241	hsa-miR-2467-3p	CLIP-seq
MIRT1244453	hsa-miR-298	CLIP-seq
MIRT740193	hsa-miR-29a	CLIP-seq
MIRT740194	hsa-miR-29b	CLIP-seq
MIRT740195	hsa-miR-29c	CLIP-seq
MIRT2072243	hsa-miR-3065-3p	CLIP-seq
MIRT2072249	hsa-miR-3116	CLIP-seq
MIRT2072250	hsa-miR-3135	CLIP-seq
MIRT2299493	hsa-miR-3137	CLIP-seq
MIRT2299494	hsa-miR-3169	CLIP-seq
MIRT1244456	hsa-miR-3190	CLIP-seq
MIRT2072254	hsa-miR-3194-5p	CLIP-seq
MIRT2072255	hsa-miR-326	CLIP-seq
MIRT2072256	hsa-miR-330-5p	CLIP-seq
MIRT2596150	hsa-miR-3605-3p	CLIP-seq
MIRT2072258	hsa-miR-3621	CLIP-seq
MIRT2072260	hsa-miR-3656	CLIP-seq
MIRT2596151	hsa-miR-3661	CLIP-seq
MIRT2072262	hsa-miR-3663-3p	CLIP-seq
MIRT1244460	hsa-miR-3667-3p	CLIP-seq
MIRT2072263	hsa-miR-3678-3p	CLIP-seq
MIRT2596152	hsa-miR-3685	CLIP-seq
MIRT2072264	hsa-miR-3689a-3p	CLIP-seq
MIRT2072265	hsa-miR-3689c	CLIP-seq
MIRT1244462	hsa-miR-3689d	CLIP-seq
MIRT2596153	hsa-miR-378	CLIP-seq
MIRT2596154	hsa-miR-378b	CLIP-seq
MIRT2596155	hsa-miR-378c	CLIP-seq
MIRT2596156	hsa-miR-378d	CLIP-seq
MIRT2596157	hsa-miR-378e	CLIP-seq
MIRT2596158	hsa-miR-378f	CLIP-seq
MIRT2596159	hsa-miR-378h	CLIP-seq
MIRT2596160	hsa-miR-378i	CLIP-seq
MIRT2596161	hsa-miR-384	CLIP-seq
MIRT2072269	hsa-miR-3913-3p	CLIP-seq
MIRT2072272	hsa-miR-3929	CLIP-seq
MIRT2072273	hsa-miR-3972	CLIP-seq
MIRT2596162	hsa-miR-422a	CLIP-seq
MIRT2596163	hsa-miR-4268	CLIP-seq
MIRT2596164	hsa-miR-4329	CLIP-seq
MIRT2072276	hsa-miR-4419b	CLIP-seq
MIRT2072282	hsa-miR-4478	CLIP-seq
MIRT2456774	hsa-miR-4493	CLIP-seq
MIRT2072284	hsa-miR-4494	CLIP-seq
MIRT2596165	hsa-miR-4496	CLIP-seq
MIRT2596166	hsa-miR-451	CLIP-seq
MIRT2596167	hsa-miR-4511	CLIP-seq
MIRT2299499	hsa-miR-452	CLIP-seq
MIRT2596168	hsa-miR-4535	CLIP-seq
MIRT2596169	hsa-miR-4638-3p	CLIP-seq
MIRT2596170	hsa-miR-4643	CLIP-seq
MIRT2072288	hsa-miR-4648	CLIP-seq
MIRT2072289	hsa-miR-4654	CLIP-seq
MIRT2596171	hsa-miR-4660	CLIP-seq
MIRT2299502	hsa-miR-4676-3p	CLIP-seq
MIRT2596172	hsa-miR-4685-5p	CLIP-seq
MIRT2596173	hsa-miR-4693-5p	CLIP-seq
MIRT2072293	hsa-miR-4701-3p	CLIP-seq
MIRT1244469	hsa-miR-4713-3p	CLIP-seq
MIRT1244471	hsa-miR-4720-5p	CLIP-seq
MIRT2072296	hsa-miR-4728-5p	CLIP-seq
MIRT2072297	hsa-miR-4734	CLIP-seq
MIRT2596174	hsa-miR-4753-3p	CLIP-seq
MIRT2072300	hsa-miR-4763-5p	CLIP-seq
MIRT2072301	hsa-miR-4768-5p	CLIP-seq
MIRT2072302	hsa-miR-4769-5p	CLIP-seq
MIRT2072303	hsa-miR-4776-3p	CLIP-seq
MIRT1244473	hsa-miR-4786-5p	CLIP-seq
MIRT2072304	hsa-miR-4792	CLIP-seq
MIRT2299505	hsa-miR-4793-3p	CLIP-seq
MIRT1244474	hsa-miR-4799-3p	CLIP-seq
MIRT2072306	hsa-miR-489	CLIP-seq
MIRT2596175	hsa-miR-492	CLIP-seq
MIRT2299506	hsa-miR-512-5p	CLIP-seq
MIRT2596176	hsa-miR-548b-3p	CLIP-seq
MIRT2596177	hsa-miR-550b	CLIP-seq
MIRT2596178	hsa-miR-555	CLIP-seq
MIRT2072311	hsa-miR-596	CLIP-seq
MIRT2072312	hsa-miR-604	CLIP-seq
MIRT2596179	hsa-miR-631	CLIP-seq
MIRT2596180	hsa-miR-642b	CLIP-seq
MIRT2072313	hsa-miR-645	CLIP-seq
MIRT2596181	hsa-miR-646	CLIP-seq
MIRT2072316	hsa-miR-661	CLIP-seq
MIRT1244482	hsa-miR-769-5p	CLIP-seq
MIRT2596144	hsa-miR-1236	CLIP-seq
MIRT2072229	hsa-miR-1254	CLIP-seq
MIRT2072230	hsa-miR-1262	CLIP-seq
MIRT2596145	hsa-miR-1281	CLIP-seq
MIRT2688268	hsa-miR-1321	CLIP-seq
MIRT2072234	hsa-miR-1343	CLIP-seq
MIRT1244448	hsa-miR-145	CLIP-seq
MIRT2072235	hsa-miR-1471	CLIP-seq
MIRT2688269	hsa-miR-149	CLIP-seq
MIRT2072237	hsa-miR-1587	CLIP-seq
MIRT1244451	hsa-miR-198	CLIP-seq
MIRT2596148	hsa-miR-2117	CLIP-seq
MIRT2299492	hsa-miR-22	CLIP-seq
MIRT2596149	hsa-miR-2278	CLIP-seq
MIRT2072241	hsa-miR-2467-3p	CLIP-seq
MIRT1244453	hsa-miR-298	CLIP-seq
MIRT2072242	hsa-miR-3064-5p	CLIP-seq
MIRT2072244	hsa-miR-30a	CLIP-seq
MIRT2072245	hsa-miR-30b	CLIP-seq
MIRT2072246	hsa-miR-30c	CLIP-seq
MIRT2072247	hsa-miR-30d	CLIP-seq
MIRT2072248	hsa-miR-30e	CLIP-seq
MIRT2072249	hsa-miR-3116	CLIP-seq
MIRT2072250	hsa-miR-3135	CLIP-seq
MIRT2299493	hsa-miR-3137	CLIP-seq
MIRT1244456	hsa-miR-3190	CLIP-seq
MIRT2072255	hsa-miR-326	CLIP-seq
MIRT2072256	hsa-miR-330-5p	CLIP-seq
MIRT2596150	hsa-miR-3605-3p	CLIP-seq
MIRT2072258	hsa-miR-3621	CLIP-seq
MIRT2072260	hsa-miR-3656	CLIP-seq
MIRT2596151	hsa-miR-3661	CLIP-seq
MIRT2072262	hsa-miR-3663-3p	CLIP-seq
MIRT1244460	hsa-miR-3667-3p	CLIP-seq
MIRT2072263	hsa-miR-3678-3p	CLIP-seq
MIRT2596152	hsa-miR-3685	CLIP-seq
MIRT2072264	hsa-miR-3689a-3p	CLIP-seq
MIRT2072265	hsa-miR-3689c	CLIP-seq
MIRT1244462	hsa-miR-3689d	CLIP-seq
MIRT2596153	hsa-miR-378	CLIP-seq
MIRT2596154	hsa-miR-378b	CLIP-seq
MIRT2596155	hsa-miR-378c	CLIP-seq
MIRT2596156	hsa-miR-378d	CLIP-seq
MIRT2596157	hsa-miR-378e	CLIP-seq
MIRT2596158	hsa-miR-378f	CLIP-seq
MIRT2072267	hsa-miR-378g	CLIP-seq
MIRT2596159	hsa-miR-378h	CLIP-seq
MIRT2596160	hsa-miR-378i	CLIP-seq
MIRT2596161	hsa-miR-384	CLIP-seq
MIRT2072269	hsa-miR-3913-3p	CLIP-seq
MIRT2072272	hsa-miR-3929	CLIP-seq
MIRT2688270	hsa-miR-3937	CLIP-seq
MIRT2596162	hsa-miR-422a	CLIP-seq
MIRT2596163	hsa-miR-4268	CLIP-seq
MIRT2688271	hsa-miR-4273	CLIP-seq
MIRT2688272	hsa-miR-4300	CLIP-seq
MIRT2596164	hsa-miR-4329	CLIP-seq
MIRT2688273	hsa-miR-4419a	CLIP-seq
MIRT2072276	hsa-miR-4419b	CLIP-seq
MIRT2072280	hsa-miR-4459	CLIP-seq
MIRT2072282	hsa-miR-4478	CLIP-seq
MIRT2072283	hsa-miR-4492	CLIP-seq
MIRT2456774	hsa-miR-4493	CLIP-seq
MIRT2072284	hsa-miR-4494	CLIP-seq
MIRT2596165	hsa-miR-4496	CLIP-seq
MIRT2072285	hsa-miR-4498	CLIP-seq
MIRT2072286	hsa-miR-4505	CLIP-seq
MIRT2596166	hsa-miR-451	CLIP-seq
MIRT2688274	hsa-miR-4510	CLIP-seq
MIRT2596167	hsa-miR-4511	CLIP-seq
MIRT2299499	hsa-miR-452	CLIP-seq
MIRT2596168	hsa-miR-4535	CLIP-seq
MIRT2596169	hsa-miR-4638-3p	CLIP-seq
MIRT2688275	hsa-miR-4638-5p	CLIP-seq
MIRT2596170	hsa-miR-4643	CLIP-seq
MIRT2688276	hsa-miR-4645-5p	CLIP-seq
MIRT2072288	hsa-miR-4648	CLIP-seq
MIRT2072289	hsa-miR-4654	CLIP-seq
MIRT2072290	hsa-miR-4656	CLIP-seq
MIRT2596171	hsa-miR-4660	CLIP-seq
MIRT2688277	hsa-miR-4673	CLIP-seq
MIRT2072292	hsa-miR-4675	CLIP-seq
MIRT2299502	hsa-miR-4676-3p	CLIP-seq
MIRT2596173	hsa-miR-4693-5p	CLIP-seq
MIRT2072293	hsa-miR-4701-3p	CLIP-seq
MIRT1244469	hsa-miR-4713-3p	CLIP-seq
MIRT1244471	hsa-miR-4720-5p	CLIP-seq
MIRT2072296	hsa-miR-4728-5p	CLIP-seq
MIRT2072297	hsa-miR-4734	CLIP-seq
MIRT2688278	hsa-miR-4739	CLIP-seq
MIRT2072298	hsa-miR-4741	CLIP-seq
MIRT2688279	hsa-miR-4751	CLIP-seq
MIRT2596174	hsa-miR-4753-3p	CLIP-seq
MIRT2688280	hsa-miR-4756-5p	CLIP-seq
MIRT2072300	hsa-miR-4763-5p	CLIP-seq
MIRT2072301	hsa-miR-4768-5p	CLIP-seq
MIRT2072302	hsa-miR-4769-5p	CLIP-seq
MIRT1244473	hsa-miR-4786-5p	CLIP-seq
MIRT2072304	hsa-miR-4792	CLIP-seq
MIRT2299505	hsa-miR-4793-3p	CLIP-seq
MIRT2688281	hsa-miR-4794	CLIP-seq
MIRT1244474	hsa-miR-4799-3p	CLIP-seq
MIRT2072306	hsa-miR-489	CLIP-seq
MIRT2596175	hsa-miR-492	CLIP-seq
MIRT2299506	hsa-miR-512-5p	CLIP-seq
MIRT2596176	hsa-miR-548b-3p	CLIP-seq
MIRT2596177	hsa-miR-550b	CLIP-seq
MIRT2596178	hsa-miR-555	CLIP-seq
MIRT2072311	hsa-miR-596	CLIP-seq
MIRT2072312	hsa-miR-604	CLIP-seq
MIRT2596179	hsa-miR-631	CLIP-seq
MIRT2596180	hsa-miR-642b	CLIP-seq
MIRT2072313	hsa-miR-645	CLIP-seq
MIRT2596181	hsa-miR-646	CLIP-seq
MIRT2072316	hsa-miR-661	CLIP-seq
MIRT2072317	hsa-miR-665	CLIP-seq
MIRT2072319	hsa-miR-762	CLIP-seq
MIRT1244482	hsa-miR-769-5p	CLIP-seq
MIRT2688282	hsa-miR-920	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004615	Function	Phosphomannomutase activity	EXP	16540464
GO:0004615	Function	Phosphomannomutase activity	IBA
GO:0004615	Function	Phosphomannomutase activity	IEA
GO:0004615	Function	Phosphomannomutase activity	TAS	9140401
GO:0005515	Function	Protein binding	IPI	25416956, 26871637, 32296183
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IBA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005929	Component	Cilium	IDA
GO:0006013	Process	Mannose metabolic process	IBA
GO:0006486	Process	Protein glycosylation	TAS	9140401
GO:0006487	Process	Protein N-linked glycosylation	IBA
GO:0009298	Process	GDP-mannose biosynthetic process	IEA
GO:0009298	Process	GDP-mannose biosynthetic process	TAS	9140401
GO:0015630	Component	Microtubule cytoskeleton	IDA
GO:0016853	Function	Isomerase activity	IEA
GO:0043025	Component	Neuronal cell body	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0061728	Process	GDP-mannose biosynthetic process from mannose	IEA
GO:0061728	Process	GDP-mannose biosynthetic process from mannose	IMP	9525984
GO:0061729	Process	GDP-D-mannose biosynthetic process from fructose-6-phosphate	IMP	9525984

Other IDs

• MIM: 601785
• HGNC: 9115
• e!Ensembl: ENSG00000140650

Protein

• UniProt ID: O15305
• Protein name: Phosphomannomutase 2 (PMM 2) (EC 5.4.2.8)
• Protein function: Involved in the synthesis of the GDP-mannose and dolichol-phosphate-mannose required for a number of critical mannosyl transfer reactions.
• PDB: 2AMY, 2Q4R, 7O0C, 7O1B, 7O4G, 7O58, 7O5Z
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF03332	PMM	28 → 246	Eukaryotic phosphomannomutase	Family

• Sequence:

  MAAPGPALCLFDVDGTLTAPRQKITKEMDDFLQKLRQKIKIGVVGGSDFEKVQEQLGNDV
  VEKYDYVFPENGLVAYKDGKLLCRQNIQSHLGEALIQDLINYCLSYIAKIKLPKKRGTFI
  EFRNGMLNVSPIGRSCSQEERIEFYELDKKENIRQKFVADLRKEFAGKGLTFSIGGQISF
  DVFPDGWDKRYCLRHVENDGYKTIYFFGDKTMPGGNDHEIFTDPRTMGYSVTAPEDTRRI
  CELLFS

• Sequence length: 246

Pathways

KEGG:

Fructose and mannose metabolism
Amino sugar and nucleotide sugar metabolism
Metabolic pathways
Biosynthesis of cofactors
Biosynthesis of nucleotide sugars

Reactome:

Defective PMM2 causes PMM2-CDG (CDG-1a)
Synthesis of GDP-mannose

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
Cerebellar ataxia	Pathogenic; Likely pathogenic	rs28936415, rs1596489887	RCV001003989 RCV001003992	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Congenital cerebellar hypoplasia	Pathogenic; Likely pathogenic	rs28936415, rs80338703, rs1596489887	RCV001003989 RCV001257997 RCV001003992	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Congenital disorder of glycosylation	Pathogenic	rs28936415	RCV000991177	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Congenital disorder of glycosylation type I	Pathogenic	rs28936415	RCV002255089	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Diabetes mellitus	Pathogenic; Likely pathogenic	rs28936415, rs1596489887	RCV001003989 RCV001003992	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Focal segmental glomerulosclerosis	Pathogenic	rs28936415	RCV004771801	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual disability	Likely pathogenic; Pathogenic	rs139716296, rs80338708	RCV001257699 RCV001257700	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Muscular dystrophy	Pathogenic; Likely pathogenic	rs28936415, rs1596489887	RCV001003989 RCV001003992	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
PMM2-congenital disorder of glycosylation	Likely pathogenic; Pathogenic	rs2060618497, rs2141019036, rs2141023331, rs1202400777, rs937726878, rs2060617981, rs2141016934, rs1343161886, rs2060637616, rs2141019983, rs2141022986, rs104894525, rs2141023345, rs774738702, rs758340382, rs940938678, rs201440361, rs151319324, rs2141051516, rs2141024241, rs2141023340, rs2141023403, rs2141022949, rs2141014102, rs2141014161, rs762937296, rs1567160054, rs2141023054, rs2060937980, rs1384610957, rs2549144489, rs781131678, rs2549145236, rs2549145197, rs2549145213, rs1403917706, rs2060647574, rs2549144508, rs762408736, rs786204591, rs768021123, rs190521996, rs532870929, rs769839273, rs1274547742, rs558826439, rs1238472629, rs150719105, rs148032587, rs80338706, rs1234062900, rs756848112, rs2549161486, rs2549144454, rs749716985, rs1555449603, rs139716296, rs1278487078, rs2549147934, rs1555448897, rs2549147296, rs780588364, rs2549144460, rs755237333, rs2060686496, rs1475508285, rs2060686207, rs199562225, rs28936415, rs78290141, rs104894526, rs104894527, rs80338701, rs80338704, rs104894530, rs104894531, rs80338708, rs80338709, rs80338702, rs80338707, rs104894532, rs104894533, rs80338700, rs104894534, rs757394782, rs201960869, rs141498002, rs1555453238, rs2549141627, rs1189623251, rs941830625, rs747777230, rs372537052, rs2549143262, rs1488089118, rs148759949, rs2549141619, rs1166138838, rs2060647914, rs2549146955, rs760689221, rs2549144474, rs2549148011, rs1060499598, rs755402538, rs775516200, rs2549147293, rs2549144469, rs2060674596, rs2549144492, rs2549146973, rs757040733, rs2549141629, rs2549161484, rs958388439, rs1392999374, rs150577656, rs750708103, rs780441704, rs387906824, rs2549147974, rs2549145255, rs80338703, rs1057516943, rs1057516815, rs769648248, rs1057516372, rs1057516757, rs1057517117, rs1057517110, rs755008774, rs1057516323, rs1057516886, rs1057517183, rs144359241, rs770458492, rs1057520708, rs765433263, rs191295403, rs376754460, rs1555449314, rs760265100, rs759513930, rs1555449607, rs958073558, rs1555449617, rs771240150, rs1555449810, rs1258107584, rs1555448899, rs767831048, rs1555495965, rs1555449604, rs368582085, rs1555449780, rs1460691341, rs1555448922, rs1339004837, rs1274794195, rs1386173214, rs757865122, rs764353860, rs370160676, rs1596481889, rs754407762, rs780581250, rs1596481676, rs149530060, rs753632453, rs201855351, rs753122961, rs935962174, rs1596489094, rs2060678732, rs1414007551, rs2060686245, rs200503569, rs398123309, rs398123312	RCV001342702 RCV001378806 RCV001377416 RCV001377330 RCV001387080 RCV001382265 RCV001385618 RCV001389886 RCV001380824 RCV001389071 RCV001385051 RCV001380615 RCV001385929 RCV001385715 RCV003463060 RCV001797878 RCV001808047 RCV001808280 RCV002275231 RCV002036504 RCV002019189 RCV001904243 RCV001978781 RCV002035207 RCV001898312 RCV001947299 RCV002024426 RCV002024615 RCV002023127 RCV002261482 RCV002261483 RCV002309924 RCV002307994 RCV002307995 RCV002307173 RCV002307320 RCV002310079 RCV002310094 RCV002310248 RCV002471328 RCV000169340 RCV000169057 RCV000169083 RCV000169562 RCV003041250 RCV003064317 RCV003058491 RCV003058492 RCV000596795 RCV000178754 RCV002594309 RCV002680699 RCV002716699 RCV002801122 RCV002851121 RCV002852141 RCV002893897 RCV002867487 RCV002867878 RCV002890998 RCV002913532 RCV002909914 RCV002971499 RCV002997008 RCV003021701 RCV003031176 RCV003026962 RCV003049628 RCV003030434 RCV000490462 RCV000008145 RCV000008146 RCV000008147 RCV000008148 RCV000008149 RCV000008150 RCV000008151 RCV000008152 RCV000008153 RCV000008155 RCV000008156 RCV000008157 RCV000008158 RCV000008159 RCV000008160 RCV000008161 RCV000008162 RCV000008164 RCV000008166 RCV003123256 RCV003123379 RCV000576764 RCV003230905 RCV003471701 RCV003471702 RCV003463300 RCV003463301 RCV003471703 RCV003463302 RCV003463303 RCV003463305 RCV003463306 RCV003471704 RCV003471705 RCV003463308 RCV003471706 RCV003463309 RCV003463310 RCV003510551 RCV003510444 RCV003510660 RCV003511424 RCV003509010 RCV003509173 RCV003510295 RCV003510224 RCV003619862 RCV003619917 RCV003620634 RCV003620620 RCV003620961 RCV003621151 RCV003621133 RCV003621101 RCV003621222 RCV003621237 RCV003621479 RCV003620220 RCV003822449 RCV003849521 RCV003862996 RCV003866711 RCV003874147 RCV000410938 RCV004574572 RCV004574573 RCV004574575 RCV000020235 RCV000020237 RCV000410306 RCV000409395 RCV000409367 RCV000410134 RCV000408959 RCV000409924 RCV000409396 RCV000408989 RCV000409634 RCV000411679 RCV000410575 RCV000409903 RCV005054503 RCV002524829 RCV002524853 RCV000023149 RCV000477824 RCV000984293 RCV001174875 RCV000590850 RCV000670380 RCV001221841 RCV000636240 RCV000781733 RCV000668655 RCV000670622 RCV000666045 RCV000667136 RCV000665521 RCV000665844 RCV000665818 RCV000673598 RCV000665463 RCV000673093 RCV000666216 RCV000666215 RCV000670926 RCV000669095 RCV000672270 RCV000668971 RCV000669287 RCV000670499 RCV000675031 RCV000668948 RCV000779199 RCV000780611 RCV000780612 RCV000780609 RCV000816023 RCV000812858 RCV000807161 RCV000791923 RCV000795195 RCV000813204 RCV000989519 RCV001009608 RCV001059093 RCV001194156 RCV001194157 RCV001245755 RCV001246105 RCV001241609 RCV001264564 RCV000178072 RCV000179744 RCV000169510	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
PMM2-related disorder	Likely pathogenic; Pathogenic	rs104894525, rs768021123, rs190521996, rs532870929, rs148032587, rs28936415, rs80338701, rs80338708, rs80338709, rs80338700, rs141498002, rs765433263, rs759513930, rs368582085, rs1339004837, rs149530060, rs398123312	RCV003953695 RCV003422060 RCV004755784 RCV004755787 RCV003416095 RCV003924813 RCV004755719 RCV004755720 RCV004755721 RCV003952346 RCV004755832 RCV003407349 RCV004755929 RCV004755996 RCV003424274 RCV003411579 RCV003936246 RCV004755761	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Premature ovarian failure	Likely pathogenic; Pathogenic	rs200503569	RCV001270234	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
BREAST CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEREBELLAR HYPOPLASIA/ATROPHY, EPILEPSY, AND GLOBAL DEVELOPMENTAL DELAY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEREBRAL ATROPHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEREBRAL PALSY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL DISORDER OF GLYCOSYLATION TYPE 1A	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IA	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL DISORDERS OF GLYCOSYLATION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Corticosteroids response	drug response	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FOCAL GLOMERULOSCLEROSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERINSULINEMIC HYPOGLYCEMIA WITH POLYCYSTIC KIDNEY DISEASE	—	ClinGen, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL RETARDATION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OPEN-ANGLE GLAUCOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN FAILURE, PREMATURE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pituitary stalk interruption syndrome	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
PMM2-CDG	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acquired Kyphoscoliosis	Acquired Kyphoscoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	26423071		★☆☆☆☆ Found in Text Mining only
Albinism	Albinism	Pubtator	39596324	Associate	★☆☆☆☆ Found in Text Mining only
Antithrombin III Deficiency	Antithrombin Deficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	BEFREE	29861834		★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	BEFREE	29861834		★☆☆☆☆ Found in Text Mining only
Brain Ischemia	Cerebral Ischemia	BEFREE	29695157		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	38266771	Associate	★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	HPO_DG			★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	29417701	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	20705404		★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebellar Ataxia	Cerebellar ataxia	Pubtator	33583911	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cerebellar atrophy	Cerebellar atrophy	BEFREE	25355454, 25497157, 26502900, 28341975		★☆☆☆☆ Found in Text Mining only
Cerebellar Diseases	Cerebellar Diseases	BEFREE	26502900, 28915903, 29470411, 30304743, 30873657		★☆☆☆☆ Found in Text Mining only
Cerebellar Diseases	Cerebellar diseases	Pubtator	33583911, 33619652	Associate	★☆☆☆☆ Found in Text Mining only
Cerebellar Hypoplasia	Cerebellar Hypoplasia	BEFREE	20398363		★☆☆☆☆ Found in Text Mining only
Cerebellar Hypoplasia	Cerebellar Hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebellar Hypoplasia	Cerebellar Hypoplasia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cerebral Infarction	Ischemic stroke	Pubtator	40650005	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral Palsy	Cerebral palsy	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ciliopathies	Ciliopathy	Pubtator	39596324	Associate	★☆☆☆☆ Found in Text Mining only
Class III malocclusion	Malocclusion	HPO_DG			★☆☆☆☆ Found in Text Mining only
Coloboma of optic disc	Coloboma of optic disc	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	CTD_human_DG	25944804		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	CTD_human_DG	25944804		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	37428395	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Complete atrioventricular block	Complete Atrioventricular Block	BEFREE	31060956		★☆☆☆☆ Found in Text Mining only
Congenital absence of ovary	Aplasia of the ovary	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital diaphragmatic hernia	Congenital diaphragmatic hernia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Congenital disorder of glycosylation type 1A	Congenital disorder of glycosylation	UNIPROT_DG	10066032, 10527672, 10571956, 10602363, 10801058, 11058895, 11058896, 11350185, 12357336, 15844218, 17307006, 9140401, 9497260, 9781039		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital disorder of glycosylation type 1A	Congenital disorder of glycosylation	CLINVAR_DG	10066032, 10386614, 10527672, 10571956, 10602363, 10801058, 10922383, 11058895, 11058896, 11134235, 11156536, 11409861, 11517108, 11589167, 11715002, 12607543, 12626389, 12705494, 13129599, 15272470, 15277997, 15645285, 15714316, 15844218, 16085795, 16376131, 16540464, 16825284, 17166182, 17186415, 17307006, 17308246, 17451957, 17920054, 18571450, 18948042, 19235233, 19357119, 19396570, 19862844, 21228398, 21541725, 21949237, 22012410, 22649348, 22801829, 23045520, 23430838, 23806237, 24037084, 24498599, 24739649, 25355454, 25497157, 25525159, 26014514, 26206375, 26488408, 26502900, 26629787, 26805780, 27415628, 28122681, 28139241, 28425223, 9140401, 9497260, 9781039		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital disorder of glycosylation type 1A	Congenital disorder of glycosylation	BEFREE	10386614, 10392743, 10495932, 10571956, 10602363, 10922383, 11058895, 11142762, 11156536, 11350185, 11517108, 11530212, 11715002, 12705494, 12789572, 13129599, 16079417, 16376131, 16435227, 16847318, 17166182, 19165618, 19235233, 20398363, 21949237, 22801829, 22959829, 24474243, 25497157, 25681648, 26014514, 27774737, 29229467, 31117816, 31640729, 9140401		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital disorder of glycosylation type 1A	Congenital disorder of glycosylation	Pubtator	10922383, 11156536, 11715002, 12244009, 24139637, 24739649, 26488408, 26785728, 28807751, 29261720, 29361989, 30061496, 30530630, 31454904, 31727010, 31902100, 32630370, 33583911, 34652821, 34859900, 36221102, 9497260	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital disorder of glycosylation type 1A	Congenital disorder of glycosylation	GENOMICS_ENGLAND_DG	11409861, 11875054, 20638314, 23137060, 27604308, 28954837, 29229467, 7670249, 9140401		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital disorder of glycosylation type 1A	Congenital disorder of glycosylation	CTD_human_DG	21539312		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital disorder of glycosylation type 1B	Congenital disorder of glycosylation	BEFREE	11134235, 11875054, 21949237		★☆☆☆☆ Found in Text Mining only
Congenital disorder of glycosylation type 1q	Congenital Disorder Of Glycosylation	GENOMICS_ENGLAND_DG	21937992		★☆☆☆☆ Found in Text Mining only
Congenital disorder of glycosylation type 1s	Congenital disorder of glycosylation	BEFREE	22157680, 23430200, 23988505, 26014514, 26502900, 27053713, 28425223, 30061496, 30293989, 30653653, 31391289, 31636082, 31727010		★☆☆☆☆ Found in Text Mining only
Congenital Disorder Of Glycosylation Type In	Congenital disorder of glycosylation	Pubtator	30061496	Associate	★☆☆☆☆ Found in Text Mining only
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id	Congenital disorder of glycosylation	BEFREE	23791010		★☆☆☆☆ Found in Text Mining only
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie	Congenital disorder of glycosylation	BEFREE	10642602		★☆☆☆☆ Found in Text Mining only
Congenital Disorder Of Glycosylation, Type In	Congenital disorder of glycosylation	BEFREE	25355454, 27053713		★☆☆☆☆ Found in Text Mining only
Congenital Disorders of Glycosylation	Congenital disorder of glycosylation	BEFREE	10066032, 10832578, 10854097, 10922383, 11058895, 11715002, 11891694, 16085795, 16847317, 16847318, 17307006, 18629883, 19235233, 20398363, 21541725, 22012410, 22157680, 22801829, 22983704, 23430200, 23622397, 23791010, 23988505, 24139637, 24474243, 24555185, 24739649, 25192513, 25497157, 25681648, 26502900, 27053713, 28108845, 28122681, 28139241, 28425223, 28742265, 29079546, 30071302, 30293989, 30397276, 30454869, 30653653, 30740725, 30857461, 30873657, 31115488, 31117816, 31132195, 31420886, 31636082, 31677975, 9140401, 9497260, 9781039, 9781052		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital Disorders of Glycosylation	Congenital disorder of glycosylation	Pubtator	10386614, 11715002, 24139637, 24739649, 26785728, 26805780, 28807751, 30530630, 31727010, 32630370, 33583911, 34440401, 34652821, 36214454, 36221102, 36309700, 36773065, 37392701	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital Disorders of Glycosylation	Congenital disorder of glycosylation	GENOMICS_ENGLAND_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital Disorders of Glycosylation	Congenital disorder of glycosylation	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital Epicanthus	Congenital Epicanthus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Hyperinsulinism	Hyperinsulinemic hypoglycemia	BEFREE	28373276		★☆☆☆☆ Found in Text Mining only
Congenital Hyperinsulinism	Congenital hyperinsulinism	Pubtator	28373276, 33811480	Associate	★☆☆☆☆ Found in Text Mining only
Congenital kyphoscoliosis	Congenital kyphoscoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Cutis Laxa	Cutis Laxa	BEFREE	24555185		★☆☆☆☆ Found in Text Mining only
Dandy-Walker Syndrome	Dandy-Walker Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Deep Vein Thrombosis	Thrombosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Development Disorder	BEFREE	25355454		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	18555856		★☆☆☆☆ Found in Text Mining only
Diabetic Neuropathies	Diabetic Nephropathy	BEFREE	31636082		★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	BEFREE	30304743, 30987467		★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	CLINVAR_DG	10527672, 10602363, 10854097, 11343337, 15844218, 24498599, 26014514, 26488408, 26805780, 28373276, 28425223, 9140401		★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	BEFREE	11891694, 30464053		★☆☆☆☆ Found in Text Mining only
Esotropia	Esotropia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Esotropia	Esotropia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Familial Hemiplegic Migraine	Hemiplegic Migraine	BEFREE	29470411		★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty Liver	HPO_DG			★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glaucoma, Open-Angle	Glaucoma	GWASCAT_DG	25173107		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	10401691		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glycogen Storage Disease XIV	Glycogen storage disease	Pubtator	36773065, 40225925	Associate	★☆☆☆☆ Found in Text Mining only
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type I	Granulomatous Disease	BEFREE	10392743, 28742265, 9119361, 9140401, 9497260, 9887379		★☆☆☆☆ Found in Text Mining only
Heart Defects Congenital	Congenital heart defect	Pubtator	29361989	Associate	★☆☆☆☆ Found in Text Mining only
Heart Septal Defects Atrial	Congenital heart septal defect	Pubtator	29361989	Associate	★☆☆☆☆ Found in Text Mining only
Hemiplegic migraine, familial type 1	Hemiplegic migraine	BEFREE	29470411		★☆☆☆☆ Found in Text Mining only
Hydrops Fetalis	Hydrops Fetalis	BEFREE	18571450		★☆☆☆☆ Found in Text Mining only
Hydrops Fetalis, Non-Immune	Hydrops Fetalis	GENOMICS_ENGLAND_DG	23137060		★☆☆☆☆ Found in Text Mining only
Hydrops Fetalis, Non-Immune	Hydrops Fetalis	BEFREE	31420886		★☆☆☆☆ Found in Text Mining only
Hydrops Fetalis, Non-Immune	Hydrops Fetalis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hydrops Fetalis, Non-Immune	Hydrops Fetalis	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Hyperinsulinemic hypoglycemia	Hyperinsulinemic hypoglycemia	BEFREE	28373276, 29280746		★☆☆☆☆ Found in Text Mining only
Hyperinsulinism	Hyperinsulinism	BEFREE	24521217		★☆☆☆☆ Found in Text Mining only
Hyperinsulinism	Hyperinsulinism	Pubtator	36773065	Associate	★☆☆☆☆ Found in Text Mining only
Hyperinsulinism	Hyperinsulinism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	28528304		★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoalbuminemia	Hypoalbuminemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypocholesterolemia	Hypocholesterolemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypogonadism	Hypogonadism	Pubtator	33270637	Associate	★☆☆☆☆ Found in Text Mining only
Hypogonadotropic hypogonadism	Hypogonadotropic Hypogonadism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoplasia of nipple	Hypoplasia Of Nipple	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Inborn Errors of Metabolism	Inborn Errors Of Metabolism	BEFREE	28954837		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	36773065	Associate	★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	37428395	Stimulate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	CTD_human_DG	21937992		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Mental retardation	BEFREE	22157680, 31727010		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Intellectual developmental disorder	Pubtator	33619652	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Mental retardation	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	29571049		★☆☆☆☆ Found in Text Mining only
Leukomalacia, Periventricular	Periventricular Leukomalacia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Lipodystrophy	Lipodystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Macrostomia	Macrostomia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Macrotia	Macrotia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	23848581, 29417701		★☆☆☆☆ Found in Text Mining only
Mental deficiency	Mental retardation	CTD_human_DG	21937992		★☆☆☆☆ Found in Text Mining only
Mental Retardation	Mental retardation	BEFREE	22157680		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Metabolic Diseases	Metabolic Diseases	BEFREE	9781052		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Moderate intellectual disability	Mental retardation	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement Disorders	CLINVAR_DG	10527672, 10602363, 10854097, 11343337, 15844218, 24498599, 26014514, 26488408, 26805780, 28373276, 28425223, 9140401		★☆☆☆☆ Found in Text Mining only
Multiple renal cysts	Multiple renal cysts	HPO_DG			★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy	Muscular dystrophy	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Myocardial Infarction	Myocardial Infarction	BEFREE	29925051		★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	14506695		★☆☆☆☆ Found in Text Mining only
Nephrotic Syndrome	Nephrotic Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Olivopontocerebellar Atrophies	Olivopontocerebellar Atrophies	BEFREE	10066032		★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ovarian Failure, Premature	Ovarian Failure	BEFREE	12398227		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pericardial effusion	Pericardial effusion	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Pericardial effusion	Pericardial effusion	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pericarditis	Pericarditis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Nervous System Diseases	BEFREE	31636082, 31727010		★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Peripheral nervous system disease	Pubtator	31727010, 33619652	Associate	★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Nervous System Diseases	HPO_DG			★☆☆☆☆ Found in Text Mining only
Peripheral Neuropathy	Peripheral Neuropathy	BEFREE	31636082, 31727010		★☆☆☆☆ Found in Text Mining only
Pleural effusion disorder	Pleural effusion	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
PMM2-CDG	Congenital Disorder Of Glycosylation	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Polycystic Kidney Autosomal Recessive	Polycystic kidney disease	Pubtator	36773065	Associate	★☆☆☆☆ Found in Text Mining only
Polycystic Kidney Diseases	Polycystic kidney disease	GENOMICS_ENGLAND_DG	28373276		★☆☆☆☆ Found in Text Mining only
Polycystic Kidney Diseases	Polycystic kidney disease	Pubtator	28373276, 33811480, 36773065	Associate	★☆☆☆☆ Found in Text Mining only
Polyneuropathy	Polyneuropathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Premature Menopause	Premature Menopause	BEFREE	12398227		★☆☆☆☆ Found in Text Mining only
Premature Menopause	Premature Menopause	HPO_DG			★☆☆☆☆ Found in Text Mining only
Primary hypogonadism	Hypogonadism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Profound Mental Retardation	Mental retardation	CTD_human_DG	21937992		★☆☆☆☆ Found in Text Mining only
Pulmonary Stenosis	Pulmonary Stenosis	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	BEFREE	23430200		★☆☆☆☆ Found in Text Mining only
Rod-Cone Dystrophy	Rod-cone dystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	27712141		★☆☆☆☆ Found in Text Mining only
Simple renal cyst	Renal cyst	HPO_DG			★☆☆☆☆ Found in Text Mining only
Skin lesion	Skin Lesion	BEFREE	28528304		★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxias	Spinocerebellar ataxia	Pubtator	31727010	Associate	★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	HPO_DG			★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Stress Disorders, Traumatic	Stress Disorder	BEFREE	29861834		★☆☆☆☆ Found in Text Mining only
Synophrys	Synophrys	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Thrombocytopenia 1	Thrombocytopenia	Pubtator	17158594	Associate	★☆☆☆☆ Found in Text Mining only
Thrombocytosis	Thrombocytosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ventricular arrhythmia	Ventricular arrhythmia	BEFREE	31751587		★☆☆☆☆ Found in Text Mining only
Ventricular hypertrophy	Ventricular hypertrophy	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
West Syndrome	West Syndrome	BEFREE	10401691		★☆☆☆☆ Found in Text Mining only