LFNG (LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase)

Gene

• Entrez ID: 3955
• Gene name: LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase
• Gene symbol: LFNG
• Synonyms (NCBI Gene): SCDO3
• Disease Acronyms (UniProt): SCDO3
• Chromosome: 7
• Chromosome location: 7p22.3
• Summary: This gene is a member of the glycosyltransferase 31 gene family. Members of this gene family, which also includes the MFNG (GeneID: 4242) and RFNG (GeneID: 5986) genes, encode evolutionarily conserved glycosyltransferases that act in the Notch signaling p

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs1562551396	G>-	Pathogenic	Coding sequence variant, intron variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT018104	hsa-miR-335-5p	Microarray	18185580
MIRT021806	hsa-miR-132-3p	Microarray	17612493
MIRT025038	hsa-miR-181a-5p	Microarray	17612493
MIRT437807	hsa-miR-125a-5p	Luciferase reporter assay	23484856
MIRT618188	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT618187	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT618186	hsa-miR-603	HITS-CLIP	23824327
MIRT667654	hsa-miR-3622a-5p	HITS-CLIP	23824327
MIRT667653	hsa-miR-4269	HITS-CLIP	23824327
MIRT667652	hsa-miR-6715b-5p	HITS-CLIP	23824327
MIRT667651	hsa-miR-564	HITS-CLIP	23824327
MIRT618183	hsa-miR-3941	HITS-CLIP	23824327
MIRT618188	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT618187	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT618186	hsa-miR-603	HITS-CLIP	23824327
MIRT618183	hsa-miR-3941	HITS-CLIP	23824327
MIRT618188	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT618187	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT618186	hsa-miR-603	HITS-CLIP	23824327
MIRT618185	hsa-miR-4253	HITS-CLIP	23824327
MIRT618184	hsa-miR-6862-5p	HITS-CLIP	23824327
MIRT618183	hsa-miR-3941	HITS-CLIP	23824327
MIRT487173	hsa-miR-3120-3p	PAR-CLIP	23592263
MIRT487172	hsa-miR-548p	PAR-CLIP	23592263
MIRT487171	hsa-miR-545-3p	PAR-CLIP	23592263
MIRT487169	hsa-miR-3663-3p	PAR-CLIP	23592263
MIRT487170	hsa-miR-548aj-5p	PAR-CLIP	23592263
MIRT487168	hsa-miR-548f-5p	PAR-CLIP	23592263
MIRT487167	hsa-miR-548g-5p	PAR-CLIP	23592263
MIRT487166	hsa-miR-548x-5p	PAR-CLIP	23592263
MIRT487165	hsa-miR-513a-5p	PAR-CLIP	23592263
MIRT487164	hsa-miR-27a-3p	PAR-CLIP	23592263
MIRT487163	hsa-miR-27b-3p	PAR-CLIP	23592263
MIRT618188	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT618187	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT618186	hsa-miR-603	HITS-CLIP	23824327
MIRT667654	hsa-miR-3622a-5p	HITS-CLIP	23824327
MIRT667653	hsa-miR-4269	HITS-CLIP	23824327
MIRT667652	hsa-miR-6715b-5p	HITS-CLIP	23824327
MIRT667651	hsa-miR-564	HITS-CLIP	23824327
MIRT618183	hsa-miR-3941	HITS-CLIP	23824327
MIRT618188	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT618187	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT618186	hsa-miR-603	HITS-CLIP	23824327
MIRT618183	hsa-miR-3941	HITS-CLIP	23824327
MIRT618188	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT618187	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT618186	hsa-miR-603	HITS-CLIP	23824327
MIRT618185	hsa-miR-4253	HITS-CLIP	23824327
MIRT618184	hsa-miR-6862-5p	HITS-CLIP	23824327
MIRT618183	hsa-miR-3941	HITS-CLIP	23824327
MIRT487173	hsa-miR-3120-3p	PAR-CLIP	23592263
MIRT487172	hsa-miR-548p	PAR-CLIP	23592263
MIRT487171	hsa-miR-545-3p	PAR-CLIP	23592263
MIRT487169	hsa-miR-3663-3p	PAR-CLIP	23592263
MIRT487170	hsa-miR-548aj-5p	PAR-CLIP	23592263
MIRT487168	hsa-miR-548f-5p	PAR-CLIP	23592263
MIRT487167	hsa-miR-548g-5p	PAR-CLIP	23592263
MIRT487166	hsa-miR-548x-5p	PAR-CLIP	23592263
MIRT487165	hsa-miR-513a-5p	PAR-CLIP	23592263
MIRT487164	hsa-miR-27a-3p	PAR-CLIP	23592263
MIRT487163	hsa-miR-27b-3p	PAR-CLIP	23592263
MIRT1108128	hsa-miR-125b	CLIP-seq
MIRT1108129	hsa-miR-1276	CLIP-seq
MIRT1108130	hsa-miR-1298	CLIP-seq
MIRT1108131	hsa-miR-146a	CLIP-seq
MIRT1108132	hsa-miR-146b-5p	CLIP-seq
MIRT1108133	hsa-miR-204	CLIP-seq
MIRT1108134	hsa-miR-211	CLIP-seq
MIRT1108135	hsa-miR-27a	CLIP-seq
MIRT1108136	hsa-miR-27b	CLIP-seq
MIRT1108137	hsa-miR-296-5p	CLIP-seq
MIRT1108138	hsa-miR-3124-3p	CLIP-seq
MIRT1108139	hsa-miR-3685	CLIP-seq
MIRT1108140	hsa-miR-3689d	CLIP-seq
MIRT1108141	hsa-miR-384	CLIP-seq
MIRT1108142	hsa-miR-3938	CLIP-seq
MIRT1108143	hsa-miR-4251	CLIP-seq
MIRT1108144	hsa-miR-4265	CLIP-seq
MIRT1108145	hsa-miR-4296	CLIP-seq
MIRT1108146	hsa-miR-4311	CLIP-seq
MIRT1108147	hsa-miR-4315	CLIP-seq
MIRT1108148	hsa-miR-4318	CLIP-seq
MIRT1108149	hsa-miR-4319	CLIP-seq
MIRT1108150	hsa-miR-4322	CLIP-seq
MIRT1108151	hsa-miR-4324	CLIP-seq
MIRT1108152	hsa-miR-4417	CLIP-seq
MIRT1108153	hsa-miR-4446-5p	CLIP-seq
MIRT1108154	hsa-miR-4459	CLIP-seq
MIRT1108155	hsa-miR-450b-5p	CLIP-seq
MIRT1108156	hsa-miR-4649-5p	CLIP-seq
MIRT1108157	hsa-miR-4672	CLIP-seq
MIRT1108158	hsa-miR-4706	CLIP-seq
MIRT1108159	hsa-miR-4731-5p	CLIP-seq
MIRT1108160	hsa-miR-4732-3p	CLIP-seq
MIRT1108161	hsa-miR-4749-5p	CLIP-seq
MIRT1108162	hsa-miR-4755-5p	CLIP-seq
MIRT1108163	hsa-miR-4781-5p	CLIP-seq
MIRT1108164	hsa-miR-4790-5p	CLIP-seq
MIRT1108165	hsa-miR-4792	CLIP-seq
MIRT1108166	hsa-miR-511	CLIP-seq
MIRT1108167	hsa-miR-518a-5p	CLIP-seq
MIRT1108168	hsa-miR-527	CLIP-seq
MIRT1108169	hsa-miR-545	CLIP-seq
MIRT1108170	hsa-miR-552	CLIP-seq
MIRT1108171	hsa-miR-589	CLIP-seq
MIRT1108172	hsa-miR-623	CLIP-seq
MIRT1108173	hsa-miR-654-3p	CLIP-seq
MIRT1108174	hsa-miR-670	CLIP-seq
MIRT1108175	hsa-miR-765	CLIP-seq
MIRT1108176	hsa-miR-885-3p	CLIP-seq
MIRT1108177	hsa-miR-1203	CLIP-seq
MIRT1108178	hsa-miR-1225-3p	CLIP-seq
MIRT1108128	hsa-miR-125b	CLIP-seq
MIRT1108179	hsa-miR-1270	CLIP-seq
MIRT1108131	hsa-miR-146a	CLIP-seq
MIRT1108132	hsa-miR-146b-5p	CLIP-seq
MIRT1108180	hsa-miR-185	CLIP-seq
MIRT1108135	hsa-miR-27a	CLIP-seq
MIRT1108136	hsa-miR-27b	CLIP-seq
MIRT1108181	hsa-miR-2964a-3p	CLIP-seq
MIRT1108182	hsa-miR-3150b-3p	CLIP-seq
MIRT1108183	hsa-miR-3157-3p	CLIP-seq
MIRT1108184	hsa-miR-331-3p	CLIP-seq
MIRT1108185	hsa-miR-361-3p	CLIP-seq
MIRT1108142	hsa-miR-3938	CLIP-seq
MIRT1108186	hsa-miR-3940-3p	CLIP-seq
MIRT1108187	hsa-miR-3973	CLIP-seq
MIRT1108143	hsa-miR-4251	CLIP-seq
MIRT1108144	hsa-miR-4265	CLIP-seq
MIRT1108145	hsa-miR-4296	CLIP-seq
MIRT1108188	hsa-miR-4306	CLIP-seq
MIRT1108146	hsa-miR-4311	CLIP-seq
MIRT1108148	hsa-miR-4318	CLIP-seq
MIRT1108149	hsa-miR-4319	CLIP-seq
MIRT1108150	hsa-miR-4322	CLIP-seq
MIRT1108151	hsa-miR-4324	CLIP-seq
MIRT1108152	hsa-miR-4417	CLIP-seq
MIRT1108155	hsa-miR-450b-5p	CLIP-seq
MIRT1108189	hsa-miR-4531	CLIP-seq
MIRT1108190	hsa-miR-4644	CLIP-seq
MIRT1108156	hsa-miR-4649-5p	CLIP-seq
MIRT1108191	hsa-miR-4668-3p	CLIP-seq
MIRT1108192	hsa-miR-4684-5p	CLIP-seq
MIRT1108160	hsa-miR-4732-3p	CLIP-seq
MIRT1108193	hsa-miR-4784	CLIP-seq
MIRT1108166	hsa-miR-511	CLIP-seq
MIRT1108167	hsa-miR-518a-5p	CLIP-seq
MIRT1108168	hsa-miR-527	CLIP-seq
MIRT1108169	hsa-miR-545	CLIP-seq
MIRT1108194	hsa-miR-548c-3p	CLIP-seq
MIRT1108195	hsa-miR-562	CLIP-seq
MIRT1108171	hsa-miR-589	CLIP-seq
MIRT1108196	hsa-miR-620	CLIP-seq
MIRT1108173	hsa-miR-654-3p	CLIP-seq
MIRT1108174	hsa-miR-670	CLIP-seq
MIRT1108197	hsa-miR-874	CLIP-seq
MIRT1108128	hsa-miR-125b	CLIP-seq
MIRT1108130	hsa-miR-1298	CLIP-seq
MIRT1108131	hsa-miR-146a	CLIP-seq
MIRT1108132	hsa-miR-146b-5p	CLIP-seq
MIRT1108133	hsa-miR-204	CLIP-seq
MIRT1108134	hsa-miR-211	CLIP-seq
MIRT1108138	hsa-miR-3124-3p	CLIP-seq
MIRT1108139	hsa-miR-3685	CLIP-seq
MIRT1108141	hsa-miR-384	CLIP-seq
MIRT1108142	hsa-miR-3938	CLIP-seq
MIRT1108143	hsa-miR-4251	CLIP-seq
MIRT1108147	hsa-miR-4315	CLIP-seq
MIRT1108149	hsa-miR-4319	CLIP-seq
MIRT1108151	hsa-miR-4324	CLIP-seq
MIRT1108153	hsa-miR-4446-5p	CLIP-seq
MIRT1108160	hsa-miR-4732-3p	CLIP-seq
MIRT1108162	hsa-miR-4755-5p	CLIP-seq
MIRT1108164	hsa-miR-4790-5p	CLIP-seq
MIRT1108171	hsa-miR-589	CLIP-seq
MIRT1108172	hsa-miR-623	CLIP-seq
MIRT1108174	hsa-miR-670	CLIP-seq
MIRT1108128	hsa-miR-125b	CLIP-seq
MIRT1108130	hsa-miR-1298	CLIP-seq
MIRT1108131	hsa-miR-146a	CLIP-seq
MIRT1108132	hsa-miR-146b-5p	CLIP-seq
MIRT1108133	hsa-miR-204	CLIP-seq
MIRT1108134	hsa-miR-211	CLIP-seq
MIRT1108142	hsa-miR-3938	CLIP-seq
MIRT1108143	hsa-miR-4251	CLIP-seq
MIRT1108149	hsa-miR-4319	CLIP-seq
MIRT1108151	hsa-miR-4324	CLIP-seq
MIRT1108153	hsa-miR-4446-5p	CLIP-seq
MIRT1108160	hsa-miR-4732-3p	CLIP-seq
MIRT1108162	hsa-miR-4755-5p	CLIP-seq
MIRT1108171	hsa-miR-589	CLIP-seq
MIRT1108172	hsa-miR-623	CLIP-seq
MIRT1108174	hsa-miR-670	CLIP-seq
MIRT1108128	hsa-miR-125b	CLIP-seq
MIRT1108179	hsa-miR-1270	CLIP-seq
MIRT1108131	hsa-miR-146a	CLIP-seq
MIRT1108132	hsa-miR-146b-5p	CLIP-seq
MIRT1108180	hsa-miR-185	CLIP-seq
MIRT1108135	hsa-miR-27a	CLIP-seq
MIRT1108136	hsa-miR-27b	CLIP-seq
MIRT1108138	hsa-miR-3124-3p	CLIP-seq
MIRT1108182	hsa-miR-3150b-3p	CLIP-seq
MIRT2029909	hsa-miR-3177-3p	CLIP-seq
MIRT2029910	hsa-miR-329	CLIP-seq
MIRT2029911	hsa-miR-3670	CLIP-seq
MIRT1108139	hsa-miR-3685	CLIP-seq
MIRT1108141	hsa-miR-384	CLIP-seq
MIRT1108142	hsa-miR-3938	CLIP-seq
MIRT1108143	hsa-miR-4251	CLIP-seq
MIRT1108144	hsa-miR-4265	CLIP-seq
MIRT1108145	hsa-miR-4296	CLIP-seq
MIRT1108188	hsa-miR-4306	CLIP-seq
MIRT1108148	hsa-miR-4318	CLIP-seq
MIRT1108149	hsa-miR-4319	CLIP-seq
MIRT1108150	hsa-miR-4322	CLIP-seq
MIRT1108151	hsa-miR-4324	CLIP-seq
MIRT1108152	hsa-miR-4417	CLIP-seq
MIRT1108153	hsa-miR-4446-5p	CLIP-seq
MIRT1108189	hsa-miR-4531	CLIP-seq
MIRT1108190	hsa-miR-4644	CLIP-seq
MIRT1108156	hsa-miR-4649-5p	CLIP-seq
MIRT2029912	hsa-miR-4663	CLIP-seq
MIRT1108192	hsa-miR-4684-5p	CLIP-seq
MIRT2029913	hsa-miR-4728-3p	CLIP-seq
MIRT1108160	hsa-miR-4732-3p	CLIP-seq
MIRT1108162	hsa-miR-4755-5p	CLIP-seq
MIRT1108193	hsa-miR-4784	CLIP-seq
MIRT1108165	hsa-miR-4792	CLIP-seq
MIRT1108169	hsa-miR-545	CLIP-seq
MIRT1108170	hsa-miR-552	CLIP-seq
MIRT1108171	hsa-miR-589	CLIP-seq
MIRT1108196	hsa-miR-620	CLIP-seq
MIRT1108174	hsa-miR-670	CLIP-seq
MIRT2029914	hsa-miR-939	CLIP-seq
MIRT1108128	hsa-miR-125b	CLIP-seq
MIRT1108130	hsa-miR-1298	CLIP-seq
MIRT1108131	hsa-miR-146a	CLIP-seq
MIRT1108132	hsa-miR-146b-5p	CLIP-seq
MIRT1108133	hsa-miR-204	CLIP-seq
MIRT1108134	hsa-miR-211	CLIP-seq
MIRT1108137	hsa-miR-296-5p	CLIP-seq
MIRT1108182	hsa-miR-3150b-3p	CLIP-seq
MIRT2029909	hsa-miR-3177-3p	CLIP-seq
MIRT2260776	hsa-miR-3192	CLIP-seq
MIRT2029910	hsa-miR-329	CLIP-seq
MIRT2260777	hsa-miR-3667-3p	CLIP-seq
MIRT1108142	hsa-miR-3938	CLIP-seq
MIRT1108143	hsa-miR-4251	CLIP-seq
MIRT1108144	hsa-miR-4265	CLIP-seq
MIRT2260778	hsa-miR-4286	CLIP-seq
MIRT1108145	hsa-miR-4296	CLIP-seq
MIRT1108146	hsa-miR-4311	CLIP-seq
MIRT1108148	hsa-miR-4318	CLIP-seq
MIRT1108149	hsa-miR-4319	CLIP-seq
MIRT1108150	hsa-miR-4322	CLIP-seq
MIRT1108151	hsa-miR-4324	CLIP-seq
MIRT1108152	hsa-miR-4417	CLIP-seq
MIRT1108153	hsa-miR-4446-5p	CLIP-seq
MIRT2260779	hsa-miR-4487	CLIP-seq
MIRT1108155	hsa-miR-450b-5p	CLIP-seq
MIRT1108156	hsa-miR-4649-5p	CLIP-seq
MIRT1108192	hsa-miR-4684-5p	CLIP-seq
MIRT2260780	hsa-miR-4691-5p	CLIP-seq
MIRT1108158	hsa-miR-4706	CLIP-seq
MIRT2260781	hsa-miR-4719	CLIP-seq
MIRT1108159	hsa-miR-4731-5p	CLIP-seq
MIRT1108160	hsa-miR-4732-3p	CLIP-seq
MIRT1108161	hsa-miR-4749-5p	CLIP-seq
MIRT1108162	hsa-miR-4755-5p	CLIP-seq
MIRT1108163	hsa-miR-4781-5p	CLIP-seq
MIRT1108193	hsa-miR-4784	CLIP-seq
MIRT1108165	hsa-miR-4792	CLIP-seq
MIRT2260782	hsa-miR-500a	CLIP-seq
MIRT1108166	hsa-miR-511	CLIP-seq
MIRT1108167	hsa-miR-518a-5p	CLIP-seq
MIRT1108168	hsa-miR-527	CLIP-seq
MIRT1108170	hsa-miR-552	CLIP-seq
MIRT1108171	hsa-miR-589	CLIP-seq
MIRT1108172	hsa-miR-623	CLIP-seq
MIRT1108173	hsa-miR-654-3p	CLIP-seq
MIRT1108174	hsa-miR-670	CLIP-seq
MIRT1108128	hsa-miR-125b	CLIP-seq
MIRT1108130	hsa-miR-1298	CLIP-seq
MIRT1108131	hsa-miR-146a	CLIP-seq
MIRT1108132	hsa-miR-146b-5p	CLIP-seq
MIRT1108133	hsa-miR-204	CLIP-seq
MIRT1108134	hsa-miR-211	CLIP-seq
MIRT1108138	hsa-miR-3124-3p	CLIP-seq
MIRT2390091	hsa-miR-3180-5p	CLIP-seq
MIRT1108139	hsa-miR-3685	CLIP-seq
MIRT1108141	hsa-miR-384	CLIP-seq
MIRT1108142	hsa-miR-3938	CLIP-seq
MIRT1108143	hsa-miR-4251	CLIP-seq
MIRT1108147	hsa-miR-4315	CLIP-seq
MIRT1108149	hsa-miR-4319	CLIP-seq
MIRT1108151	hsa-miR-4324	CLIP-seq
MIRT1108153	hsa-miR-4446-5p	CLIP-seq
MIRT1108160	hsa-miR-4732-3p	CLIP-seq
MIRT1108162	hsa-miR-4755-5p	CLIP-seq
MIRT1108164	hsa-miR-4790-5p	CLIP-seq
MIRT2390092	hsa-miR-520a-5p	CLIP-seq
MIRT2390093	hsa-miR-525-5p	CLIP-seq
MIRT1108171	hsa-miR-589	CLIP-seq
MIRT1108172	hsa-miR-623	CLIP-seq
MIRT1108174	hsa-miR-670	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001756	Process	Somitogenesis	ISS
GO:0002315	Process	Marginal zone B cell differentiation	ISS
GO:0005576	Component	Extracellular region	NAS	10341080
GO:0008375	Function	Acetylglucosaminyltransferase activity	IBA	21873635
GO:0008593	Process	Regulation of Notch signaling pathway	IBA	21873635
GO:0008593	Process	Regulation of Notch signaling pathway	ISS
GO:0009887	Process	Animal organ morphogenesis	NAS	10341080
GO:0014807	Process	Regulation of somitogenesis	IMP	19061953
GO:0030173	Component	Integral component of Golgi membrane	IEA
GO:0030217	Process	T cell differentiation	ISS
GO:0033829	Function	O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity	IBA	21873635
GO:0033829	Function	O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity	IDA	10935626
GO:0033829	Function	O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity	ISS
GO:0046872	Function	Metal ion binding	IEA
GO:1902367	Process	Negative regulation of Notch signaling pathway involved in somitogenesis	ISS
GO:1903561	Component	Extracellular vesicle	HDA	24769233

Other IDs

• MIM: 602576
• HGNC: 6560
• e!Ensembl: ENSG00000106003

Protein

• UniProt ID: Q8NES3
• Protein name: Beta-1,3-N-acetylglucosaminyltransferase lunatic fringe (EC 2.4.1.222) (O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase)
• Protein function: Glycosyltransferase that initiates the elongation of O-linked fucose residues attached to EGF-like repeats in the extracellular domain of Notch molecules. Modulates NOTCH1 activity by modifying O-fucose residues at specific EGF-like domains resu
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF02434	Fringe	108 → 358	Fringe-like	Family

• Sequence:

  MLKRCGRRLLLALAGALLACLLVLTADPPPPPLPAERGRRALRSLAGPAGAAPAPGLGAA
  AAAPGALVRDVHSLSEYFSLLTRARRDAGPPPGAAPRPADGHPRPLAEPLAPRDVFIAVK
  TTKKFHRARLDLLLETWISRHKEMTFIFTDGEDEALARHTGNVVITNCSAAHSRQALSCK
  MAVEYDRFIESGRKWFCHVDDDNYVNLRALLRLLASYPHTRDVYVGKPSLDRPIQAMERV
  SENKVRPVHFWFATGGAGFCISRGLALKMSPWASGGHFMNTAERIRLPDDCTIGYIVEAL
  LGVPLIRSGLFHSHLENLQQVPTSELHEQVTLSYGMFENKRNAVHVKGPFSVEADPSRFR
  SIHCHLYPDTPWCPRTAIF

• Sequence length: 379

Pathways

KEGG:

Other types of O-glycan biosynthesis
Notch signaling pathway
Human papillomavirus infection

Reactome:

Defective LFNG causes SCDO3

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Congenital diaphragmatic hernia	Congenital diaphragmatic hernia	rs121908602, rs121908604, rs864309713, rs775394591
Cryptorchidism	Cryptorchidism	rs121912555, rs104894697, rs104894698, rs398122886
Macrocephaly	Macrocephaly	rs786204854, rs764333096, rs1557739557
Mental retardation	Intellectual Disability	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315, rs121918316, rs397515320, rs121434489, rs1585215916, rs267607233, rs267606752, rs137852214, rs606231193, rs132630297, rs80338758, rs137852815, rs122455132, rs28935171, rs122453113, rs122445108, rs28934904, rs28934908, rs28935468, rs61748421, rs121918624, rs202060209, rs80338708, rs113994198, rs199422192, rs387906635, rs1554770064, rs1057519611, rs1060499526, rs387906636, rs1057519612, rs281875189, rs281875322, rs387906799, rs387906804, rs875989800, rs797045262, rs387906845, rs387906846, rs876657378, rs281875227, rs281875228, rs281875229, rs281875230, rs387906861, rs370667926, rs387906932, rs387906943, rs1557612719, rs387907190, rs387907191, rs2126499522, rs587776908, rs1560982564, rs80359505, rs398123009, rs587776929, rs587776930, rs397514555, rs398122824, rs398122825, rs397514556, rs2147483647, rs587776937, rs397514627, rs397514655, rs397514656, rs730882192, rs1587520018, rs1581995953, rs1554121970, rs1581987445, rs397514670, rs376395543, rs137854128, rs397509411, rs397509412, rs397514741, rs398122394, rs879255516, rs397518483, rs398122406, rs398122412, rs398123561, rs200667343, rs587777162, rs587777202, rs62507350, rs587777219, rs587777225, rs587777226, rs587779750, rs587777326, rs587777334, rs281875332, rs587780470, rs587780474, rs587780486, rs587777378, rs587777406, rs587777408, rs587777409, rs587777411, rs587777522, rs527236034, rs527236035, rs267608571, rs267608382, rs267608597, rs61753979, rs61751444, rs267608493, rs587777644, rs587777645, rs587777646, rs587777703, rs587779388, rs606231266, rs606231267, rs672601340, rs606231268, rs672601341, rs606231269, rs672601342, rs606231270, rs606231271, rs606231272, rs606231273, rs587784566, rs587784092, rs587783749, rs587783747, rs587783640, rs587783483, rs606231456, rs606231457, rs606231458, rs606231459, rs672601370, rs672601369, rs672601371, rs672601367, rs672601366, rs672601365, rs672601364, rs672601363, rs672601362, rs672601376, rs672601377, rs672601378, rs724159949, rs724159950, rs724159948, rs724159956, rs724159953, rs727502860, rs727502861, rs730882197, rs749995448, rs786205143, rs794726770, rs1135401808, rs786205583, rs786205595, rs786205859, rs794727792, rs794727928, rs794729221, rs797044519, rs797044523, rs797044521, rs797044524, rs797044526, rs797044522, rs797044520, rs794727642, rs796052719, rs781746113, rs796052510, rs796052733, rs796052724, rs796052728, rs796052676, rs796053353, rs796053366, rs796053368, rs1555103986, rs1555110818, rs796052571, rs1555110843, rs796052626, rs796052618, rs796053290, rs796052217, rs672601368, rs797045164, rs797044961, rs797044962, rs200070245, rs797044963, rs869320675, rs869320676, rs797045012, rs752746786, rs797044885, rs797044925, rs797044854, rs797044849, rs797044930, rs797044901, rs797044918, rs797044884, rs797045177, rs797045178, rs797045050, rs797045036, rs797045053, rs797045047, rs797045037, rs797045042, rs797045041, rs879255261, rs782397980, rs797045263, rs797045264, rs797045655, rs797045586, rs545185248, rs797046031, rs797046028, rs797046029, rs797046030, rs797045249, rs797045529, rs797045952, rs797045984, rs797045540, rs797045539, rs797045989, rs863224930, rs869025202, rs863225264, rs863225077, rs876661308, rs869025222, rs864309560, rs758252808, rs745756308, rs869025286, rs869025287, rs869025578, rs143038880, rs869025579, rs869025580, rs869025581, rs869312704, rs869312674, rs869312677, rs869312689, rs869312693, rs869312698, rs869312708, rs869312711, rs869312826, rs869312825, rs869312824, rs869312823, rs758432471, rs869312821, rs761993070, rs869312844, rs869312842, rs869312843, rs869312841, rs869312847, rs869320632, rs869312955, rs773432002, rs869320713, rs869320772, rs869320773, rs879255270, rs875989848, rs875989849, rs1716457622, rs2108414289, rs878854401, rs875989786, rs1085307109, rs1085307108, rs876657679, rs876661167, rs876661076, rs876661055, rs876661219, rs876661064, rs876661151, rs876661041, rs200440467, rs876661295, rs878853045, rs878853143, rs878853142, rs878853149, rs1555910048, rs878853152, rs878853146, rs878853145, rs878853141, rs878853151, rs878853144, rs878853148, rs878853147, rs878853251, rs878853269, rs879253762, rs886037841, rs879253888, rs879253931, rs879254016, rs879255618, rs879255619, rs879255620, rs886037847, rs879255621, rs886039332, rs746177928, rs886039520, rs886041003, rs886041058, rs750035706, rs886041059, rs886041060, rs886041061, rs886041090, rs886041088, rs886041089, rs886041095, rs886041097, rs886041989, rs886041944, rs886041692, rs886041593, rs886041687, rs886041207, rs886041309, rs886041239, rs886041448, rs138336847, rs149644940, rs886041295, rs886041521, rs886041125, rs886042041, rs886041238, rs886041469, rs886041197, rs886041291, rs886041658, rs886041705, rs886041876, rs139716296, rs1057516030, rs1057517408, rs749655461, rs141179774, rs370916968, rs1057517676, rs1057517933, rs1057517708, rs1057518352, rs1057518183, rs1057518474, rs1057518204, rs1057517825, rs1057518796, rs1057518961, rs1057518772, rs1057518988, rs1057519004, rs1057518700, rs772450541, rs371310428, rs1057519019, rs1057519491, rs1057519546, rs1057519560, rs1057519565, rs1057519400, rs1057519402, rs1057519405, rs1057519593, rs1057519594, rs1057519628, rs1556912828, rs1060505029, rs1060505030, rs147001633, rs1057519947, rs1057519617, rs1057524832, rs774592932, rs797045045, rs1039571136, rs1555910821, rs1060499626, rs1060499655, rs1554770185, rs1060499936, rs1060501153, rs1060501151, rs1064792984, rs1060503378, rs1060503386, rs1060503383, rs1060500046, rs1064792999, rs1060505033, rs1064796564, rs1064797002, rs1064793161, rs150802299, rs1064796830, rs1064794996, rs1064795444, rs1064796034, rs1064796403, rs1064794979, rs1064796765, rs1064793539, rs760933323, rs1064793546, rs1064796406, rs1064796367, rs780441716, rs1064794894, rs1064796023, rs1064797355, rs1085307484, rs1064794935, rs1085307547, rs1131690804, rs757511770, rs1131691875, rs1131691979, rs398122823, rs1131691866, rs1131692159, rs1131692228, rs1131692154, rs113331868, rs1554121872, rs1554121875, rs926027867, rs1554122123, rs1554122129, rs1287121256, rs1554122526, rs1554123982, rs1554385102, rs1554385111, rs1554385305, rs1554386687, rs1554389088, rs1554402092, rs1554434435, rs1135401778, rs1135401760, rs1135401770, rs1135401771, rs1135401768, rs1135401779, rs1135401805, rs1135401797, rs1135401799, rs1135401816, rs1135401823, rs1135401824, rs1555769968, rs1135401825, rs1135401955, rs1135401956, rs1135401957, rs1135401958, rs1554129040, rs1554150543, rs1553188463, rs1553146165, rs1485978447, rs1361547443, rs750079325, rs369692236, rs1554231836, rs749188610, rs1554122735, rs1554689877, rs1174482090, rs781053477, rs1554623112, rs1555409836, rs1555411305, rs770014321, rs1555984461, rs1555990958, rs762292772, rs1554944271, rs1057524157, rs1485749468, rs1555984343, rs1293450628, rs373584239, rs1553722309, rs1553738686, rs1376334317, rs1553722294, rs1553283831, rs1554120589, rs1555985554, rs1555877287, rs1555411378, rs750922282, rs1553264873, rs1554263326, rs1554264268, rs1554263626, rs1554263625, rs766614772, rs1553620494, rs1555050158, rs1555050165, rs1555050171, rs1555050174, rs765556214, rs1402086660, rs1554645052, rs1555661648, rs1293246328, rs749494995, rs775592405, rs1553265189, rs1553242856, rs1553247374, rs1553241570, rs1553997065, rs1553998565, rs1380822792, rs1555028154, rs1555023232, rs1553194155, rs1553130904, rs1553152590, rs1553567864, rs1553638614, rs120074160, rs1554486894, rs1554767754, rs1554843977, rs1555443581, rs1555443600, rs1555439545, rs1555525088, rs770680174, rs1555889130, rs373178770, rs1555985532, rs1553519853, rs781325598, rs1410587479, rs1553638086, rs150259543, rs1554093891, rs1554121228, rs1554120498, rs1554121189, rs1212517874, rs1554770628, rs1555979158, rs1554770054, rs771610568, rs1451230055, rs1554770624, rs1555906707, rs1555906768, rs1555906781, rs1555907620, rs1555907623, rs1555907626, rs1555907653, rs1555907864, rs1554094145, rs1554202698, rs1554200722, rs773327091, rs1555607621, rs1555604778, rs1555607159, rs1555607682, rs1553364018, rs1553324416, rs1555411394, rs1554102556, rs1554122363, rs1555705966, rs1555103971, rs1555408401, rs1554461593, rs1554304254, rs1554120978, rs1047509819, rs1555982601, rs767774867, rs1554789246, rs1555111511, rs1555950676, rs1555954380, rs1555985649, rs1553194162, rs1553518509, rs1274633498, rs1554274371, rs1554122252, rs1554122458, rs1554122729, rs1554297905, rs1554776342, rs1554770046, rs1554770667, rs1554792556, rs1452715535, rs1555444885, rs1555534147, rs1427624649, rs1555611722, rs1555744282, rs1555706391, rs1178702025, rs1555984102, rs1554770589, rs1554121443, rs1559791842, rs1559824939, rs1555889127, rs1236702036, rs1553510280, rs1553511175, rs1553511226, rs1554150552, rs1554275163, rs1554201137, rs1553517991, rs1553518511, rs1553517984, rs1553518752, rs1554119814, rs1554122293, rs1554122341, rs1554122689, rs1554770243, rs1554770444, rs1557045250, rs959316981, rs1556270312, rs1553270640, rs978179634, rs1554093884, rs1491240980, rs1555943484, rs1554121453, rs1334099693, rs1554048616, rs1555660806, rs1555644480, rs1555651572, rs1567844992, rs1567855081, rs1567855669, rs1567855704, rs1567856045, rs1567856331, rs1567860075, rs1567860112, rs1567860640, rs1567860891, rs754919272, rs1567860919, rs1567861468, rs1567861489, rs1567861501, rs1567861894, rs1567863732, rs1567864750, rs1567877108, rs1567878511, rs758785463, rs1553808301, rs1553245038, rs1553789166, rs1553813646, rs1553631860, rs1554121265, rs1554770262, rs1555034768, rs1555984433, rs779009256, rs1553994814, rs1553996086, rs1553996072, rs1553270599, rs1553153291, rs760262127, rs1554119274, rs1554121878, rs1554387293, rs1554385203, rs757077698, rs750612085, rs1554776500, rs1564360978, rs1554776933, rs1554776938, rs1565278132, rs1567368243, rs1558478047, rs375695605, rs1558479778, rs1558501648, rs1565240833, rs114727354, rs1557591264, rs1557620758, rs1559099927, rs1561788984, rs369459721, rs1563831738, rs1562159088, rs1562159562, rs1562159599, rs1559094754, rs1559328283, rs755634856, rs1561784687, rs1554122296, rs1561789313, rs1562720119, rs1564363665, rs1561697465, rs1561785003, rs1561787845, rs1561789215, rs1554122305, rs1561784553, rs1561784560, rs1561787690, rs1554122888, rs749632782, rs1567139896, rs1569370887, rs1569371303, rs1564493599, rs1561875779, rs1569146542, rs1569146649, rs1275489527, rs1560115921, rs1468772495, rs749969789, rs1560108090, rs1569376809, rs1569355102, rs1560103306, rs1564365418, rs1559855453, rs1562928193, rs1558149913, rs1253072668, rs141976414, rs1558371790, rs1557898800, rs1567758622, rs1567844041, rs1567844114, rs1567920106, rs1567920209, rs138247472, rs1567974030, rs1567995650, rs1283838287, rs1568003569, rs1568006217, rs1568018905, rs1562505675, rs1561783309, rs1555980234, rs1559087186, rs1560966086, rs1560330387, rs769471341, rs1562493608, rs1562505335, rs1554121861, rs1554122200, rs1562957809, rs1568097623, rs1391600900, rs1568234874, rs1568235086, rs1555990955, rs1567870541, rs1557570794, rs1562869207, rs1571818248, rs1431778557, rs369691608, rs1595808957, rs1597665063, rs1597846084, rs1603401125, rs1603350606, rs1601946481, rs1601932069, rs1602880906, rs1602308324, rs1574554519, rs1573882268, rs1603198937, rs1558148010, rs1558498928, rs1569459580, rs1569380375, rs1560062082, rs1557889974, rs1558414255, rs756429763, rs781663444, rs1569016820, rs1569017025, rs1569017160, rs1557612048, rs1568504941, rs1581987022, rs1576983339, rs1599892470, rs1265340906, rs1602284689, rs1574949440, rs1576220938, rs1576280892, rs1576288424, rs1574459612, rs1574511051, rs1575654528, rs1577094794, rs1294683568, rs771819481, rs1580984895, rs1581338441, rs1580988138, rs1581980317, rs1581986872, rs1554121207, rs1581987268, rs1581987476, rs1581987885, rs763770519, rs1581991929, rs1581992099, rs1581992998, rs1581995453, rs1554122242, rs1581996778, rs1581997228, rs1588735247, rs1555980467, rs1555985742, rs1601319086, rs1601970168, rs1574451881, rs876661168, rs1576994053, rs1573589807, rs1581036396, rs1601267617, rs1572531830, rs1573483715, rs1590954686, rs1601315812, rs1573965358, rs1573972562, rs529087882, rs1570609440, rs1598940393, rs1575333081, rs1576028676, rs1596476657, rs1599375711, rs1603290366, rs1603060007, rs1603069440, rs1592939069, rs1591612223, rs2062994512, rs373701249, rs1600471396, rs1600501018, rs1600504088, rs1600514073, rs748436953, rs765723607, rs758170522, rs1561785045, rs1357591960, rs1591609136, rs1596891223, rs1579370234, rs2047850664, rs1579109565, rs1870202051, rs1574887674, rs778229060, rs1572531281, rs1570622663, rs1573501865, rs1576086299, rs1576164991, rs1574907198, rs1576656734, rs1554121438, rs1581995425, rs1581996813, rs1582001015, rs1588324025, rs1591371152, rs1590008294, rs1590956245, rs1590028691, rs1591606580, rs1591611001, rs1591612317, rs1591612370, rs763436882, rs997044541, rs1595897117, rs747706524, rs1579377990, rs1201878175, rs1894051550, rs1572531730, rs1579576029, rs1577017863, rs752545577, rs1582461267, rs1589460606, rs1588727276, rs1598620094, rs1599368323, rs1600082188, rs1601319352, rs1598226304, rs2076013475, rs2076017638, rs1600596180, rs1554121932, rs1680676671, rs1570607996, rs1382444181, rs1570640673, rs1574994308, rs1596667777, rs1602226289, rs1595629181, rs1595609005, rs1227643933, rs1572705473, rs1570621899, rs1722830922, rs1575094649, rs1417035592, rs1581997098, rs1589457762, rs1598211790, rs758726258, rs1601071971, rs863224922, rs1586692481, rs1586692548, rs1586692551, rs1580988074, rs1594129609, rs1588732344, rs1579368865, rs1586660389, rs1586660370, rs1586660338, rs1586657848, rs1586660381, rs1791701214, rs752676391, rs1680673822, rs758098717, rs1726676630, rs762288077, rs1759964009, rs1760905766, rs1761021165, rs1554121934, rs2055849544, rs1049773, rs587784300, rs1861628072, rs1761241410, rs1064797322, rs1948652423, rs2059194330, rs1777174302, rs2054280202, rs2081190512, rs772665884, rs1400164869, rs1861593395, rs1760897843, rs1761087122, rs1388355040, rs2068797192, rs1777175608, rs376898131
Microcephaly	Microcephaly	rs397704721, rs267607176, rs267607177, rs397704725, rs267606717, rs267606718, rs199422202, rs121434311, rs199422203, rs199422126, rs387906274, rs121434305, rs199422125, rs199422135, rs189678019, rs199422184, rs137852994, rs137852995, rs137852996, rs137852997, rs145489194, rs80338860, rs137852494, rs121918609, rs199422207, rs199422206, rs29001566, rs864321658, rs199422138, rs199422139, rs199422141, rs199422144, rs199422147, rs199422151, rs199422152, rs199422153, rs199422157, rs199422159, rs199422160, rs199422161, rs140602858, rs199422164, rs199422165, rs148294838, rs199422134, rs199422168, rs199422172, rs199422173, rs199422131, rs199422177, rs199422180, rs199422185, rs199422186, rs199422187, rs143931757, rs199422189, rs199422192, rs199422194, rs199422195, rs199422196, rs199422197, rs199422199, rs753597039, rs1488084787, rs387906961, rs755862917, rs387907082, rs587776899, rs387907083, rs587776900, rs587776901, rs387907084, rs863223322, rs764201220, rs202247811, rs763915472, rs587776986, rs587777036, rs398122971, rs374351172, rs373278668, rs398122976, rs121909123, rs587783393, rs730882076, rs587783211, rs144716013, rs606231255, rs587783215, rs587783216, rs587783220, rs587783221, rs587783225, rs587783227, rs587783228, rs587783230, rs587783238, rs587783239, rs587783240, rs587783245, rs587783247, rs587783248, rs587783258, rs587783259, rs587783263, rs587783265, rs587783268, rs587783269, rs587783272, rs587783275, rs587783277, rs587783278, rs587783280, rs587783282, rs587783283, rs587783285, rs587783287, rs587783288, rs587783289, rs587783292, rs587783295, rs587784452, rs587783741, rs587783735, rs587783392, rs587783390, rs587783387, rs587783410, rs202058504, rs587783423, rs587783421, rs587783414, rs587784553, rs587784558, rs587784546, rs587784549, rs587784554, rs587784412, rs876661307, rs869025200, rs747831095, rs748529285, rs797045316, rs797045315, rs797045314, rs759632528, rs797045313, rs797045311, rs754282058, rs797045441, rs797045454, rs797045430, rs869312853, rs797046109, rs767399782, rs863225127, rs863225464, rs863225465, rs780270096, rs864321621, rs864321620, rs775277800, rs879253817, rs869312824, rs761447719, rs753406334, rs147622433, rs199422137, rs879255522, rs879255524, rs879255523, rs886037892, rs886037893, rs886037894, rs886037895, rs199422169, rs886041709, rs886041282, rs138228629, rs759188041, rs769688376, rs1057517688, rs1057519087, rs1057518268, rs933106143, rs201362977, rs754909135, rs1057520873, rs1060499758, rs1060499757, rs199422146, rs748016594, rs1085307120, rs763715733, rs1064795945, rs763800571, rs1554728351, rs1553227021, rs555866170, rs1553895368, rs1334947797, rs769818500, rs1321892596, rs1553227645, rs1404276011, rs1553228275, rs1554471681, rs1554496609, rs1555420891, rs1555418825, rs587784548, rs1555723585, rs199736219, rs745997770, rs765275884, rs1553924800, rs1554730137, rs1229568621, rs1482100822, rs979186313, rs758157294, rs1555294652, rs1555299107, rs1553264033, rs1553259539, rs1553254322, rs1553259528, rs981349334, rs1553264036, rs1553253022, rs754267846, rs776034810, rs1342429887, rs752140135, rs1006898944, rs571640983, rs1477524771, rs763909256, rs199910503, rs1553223496, rs759663956, rs1553446603, rs1555139372, rs1555143325, rs1350194762, rs1555141158, rs1553225179, rs769481947, rs769364943, rs748011724, rs1334301723, rs746341112, rs149225624, rs765113367, rs1567024512, rs142865061, rs772050241, rs201721894, rs1557966012, rs1379578836, rs1568334868, rs1185537869, rs1602333390, rs1163303148, rs774338373, rs770540184, rs1571600045, rs1571601267, rs1571602991, rs1588472215, rs1599841026, rs1558328287, rs1571600860, rs1571596976, rs1309880692, rs1435239428, rs1588634016, rs1751797979, rs1810830776, rs1815354949, rs1949984655, rs886039658, rs1943461045, rs777711720, rs2031759596, rs1555710223, rs1221031683, rs774069989, rs2058919680, rs1170413397, rs1213710245, rs1599851667, rs1599760058, rs1971033478, rs746967357
Scoliosis	Scoliosis, unspecified	rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085
Spondylocostal dysostosis	SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE 2, SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE 3, Autosomal recessive spondylocostal dysostosis	rs113994158, rs71647808, rs71647806, rs118204035, rs786200899, rs786200900, rs777791545, rs786200902, rs104894675, rs786200903, rs104894676, rs104894024, rs113994160, rs387906978, rs387906979, rs118204034, rs398122970, rs587777113, rs201620629, rs786204039, rs786204040, rs786205519, rs879253776, rs758051786, rs879253857, rs771875570, rs1555439013, rs1555439118, rs912110093, rs762067626, rs1452984345, rs1555439061, rs538996447, rs1555439152, rs1206731716, rs1555439049, rs1555439063, rs1332109041, rs1447189148, rs1567342899, rs1211456697, rs1562551396, rs761454301, rs369015359	27604308, 16385447

Unknown
Disease term	Disease name	Evidence	References	Source
Spondylocostal Dysostosis	spondylocostal dysostosis 3, autosomal recessive, autosomal recessive spondylocostal dysostosis			GenCC
Hypertension	Hypertension			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Autism Spectrum Disorder	Associate	39519104
Carcinoma Pancreatic Ductal	Associate	33562410
Cognition Disorders	Associate	35954202
COVID 19	Associate	35885892
Cystic Fibrosis	Associate	35954202
Dysostoses	Associate	16385447
Exocrine Pancreatic Insufficiency	Associate	35954202
HEM dysplasia	Associate	30196550
Hypersensitivity Immediate	Associate	27888801
Jarcho Levin syndrome	Associate	16385447, 30196550, 40225152
Johnson Munson syndrome	Associate	30196550
Melanoma	Associate	27311960
Neoplasm Metastasis	Associate	36701842
Ribbing disease	Associate	30196550
Scoliosis	Associate	30196550, 40225152
Spondylocostal dysostosis autosomal recessive	Associate	30196550
Systemic carnitine deficiency	Associate	16385447