RTTN (rotatin)

Gene

• Entrez ID: 25914
• Gene name: Rotatin
• Gene symbol: RTTN
• Synonyms (NCBI Gene): MSSP
• Disease Acronyms (UniProt): MSSP
• Chromosome: 18
• Chromosome location: 18q22.2
• Summary: This gene encodes a large protein whose specific function is unknown. Absence of the orthologous protein in mouse results in embryonic lethality with deficient axial rotation, abnormal differentiation of the neural tube, and randomized looping of the hear

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs35068710	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Genic downstream transcript variant, coding sequence variant, non coding transcript variant, missense variant
rs35313369	C>T	Conflicting-interpretations-of-pathogenicity, benign	Genic downstream transcript variant, coding sequence variant, non coding transcript variant, synonymous variant
rs62089120	G>A	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, coding sequence variant, non coding transcript variant, missense variant
rs112327299	T>C	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, 5 prime UTR variant, non coding transcript variant, synonymous variant, genic upstream transcript variant
rs149233888	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant, non coding transcript variant, coding sequence variant, synonymous variant
rs200600259	A>G	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant, 5 prime UTR variant, non coding transcript variant
rs201253231	A>G	Likely-pathogenic	Missense variant, downstream transcript variant, genic downstream transcript variant, non coding transcript variant, coding sequence variant
rs318240757	T>A	Pathogenic, not-provided	Missense variant, coding sequence variant, non coding transcript variant
rs374274442	C>A,G,T	Likely-pathogenic	Genic downstream transcript variant, downstream transcript variant, splice donor variant
rs563328673	G>A	Conflicting-interpretations-of-pathogenicity	Intron variant, genic downstream transcript variant
rs759249497	G>A,T	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant, missense variant
rs775277800	C>G,T	Likely-pathogenic, pathogenic	Missense variant, non coding transcript variant, 5 prime UTR variant, coding sequence variant
rs780270096	T>C	Likely-pathogenic, pathogenic	Missense variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs797044691	->T	Likely-pathogenic	Non coding transcript variant, frameshift variant, intron variant, coding sequence variant
rs864321620	T>C	Likely-pathogenic, pathogenic	Intron variant
rs864321621	T>G	Likely-pathogenic, pathogenic	Missense variant, non coding transcript variant, intron variant, coding sequence variant
rs886039611	A>G	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs886041460	CT>-	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained, intron variant
rs932327641	G>A	Likely-pathogenic	Coding sequence variant, 5 prime UTR variant, stop gained, non coding transcript variant
rs1131691284	T>A,G	Likely-pathogenic	5 prime UTR variant, non coding transcript variant, synonymous variant, genic upstream transcript variant, coding sequence variant, stop gained
rs1256028809	A>T	Pathogenic	Intron variant, genic downstream transcript variant
rs1465962355	C>A,T	Likely-pathogenic	Non coding transcript variant, missense variant, genic downstream transcript variant, coding sequence variant
rs1555704436	CT>-	Pathogenic	Genic downstream transcript variant, non coding transcript variant, coding sequence variant, intron variant, frameshift variant
rs1555707336	C>T	Pathogenic	Genic downstream transcript variant, splice donor variant
rs1555717153	G>A	Likely-pathogenic	Non coding transcript variant, stop gained, genic downstream transcript variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT050821	hsa-miR-17-5p	CLASH	23622248
MIRT672477	hsa-miR-4797-5p	HITS-CLIP	23824327
MIRT672476	hsa-miR-5007-5p	HITS-CLIP	23824327
MIRT672474	hsa-miR-4524a-3p	HITS-CLIP	23824327
MIRT672473	hsa-miR-924	HITS-CLIP	23824327
MIRT672472	hsa-miR-1251-3p	HITS-CLIP	23824327
MIRT672471	hsa-miR-6879-3p	HITS-CLIP	23824327
MIRT672470	hsa-miR-431-5p	HITS-CLIP	23824327
MIRT672469	hsa-miR-3672	HITS-CLIP	23824327
MIRT672468	hsa-miR-6864-3p	HITS-CLIP	23824327
MIRT672466	hsa-miR-8055	HITS-CLIP	23824327
MIRT672467	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT621168	hsa-miR-6890-3p	HITS-CLIP	23824327
MIRT621167	hsa-miR-6736-3p	HITS-CLIP	23824327
MIRT621166	hsa-miR-6752-3p	HITS-CLIP	23824327
MIRT621165	hsa-miR-6747-3p	HITS-CLIP	23824327
MIRT621164	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT621163	hsa-miR-6787-3p	HITS-CLIP	23824327
MIRT621162	hsa-miR-7113-3p	HITS-CLIP	23824327
MIRT621161	hsa-miR-4772-3p	HITS-CLIP	23824327
MIRT621160	hsa-miR-4695-3p	HITS-CLIP	23824327
MIRT621159	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT621158	hsa-miR-6791-3p	HITS-CLIP	23824327
MIRT621157	hsa-miR-6829-3p	HITS-CLIP	23824327
MIRT629994	hsa-miR-7641	HITS-CLIP	23824327
MIRT621156	hsa-miR-6836-3p	HITS-CLIP	23824327
MIRT672477	hsa-miR-4797-5p	HITS-CLIP	23824327
MIRT672476	hsa-miR-5007-5p	HITS-CLIP	23824327
MIRT672474	hsa-miR-4524a-3p	HITS-CLIP	23824327
MIRT672473	hsa-miR-924	HITS-CLIP	23824327
MIRT672472	hsa-miR-1251-3p	HITS-CLIP	23824327
MIRT672471	hsa-miR-6879-3p	HITS-CLIP	23824327
MIRT672470	hsa-miR-431-5p	HITS-CLIP	23824327
MIRT672469	hsa-miR-3672	HITS-CLIP	23824327
MIRT672468	hsa-miR-6864-3p	HITS-CLIP	23824327
MIRT672466	hsa-miR-8055	HITS-CLIP	23824327
MIRT672467	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT672477	hsa-miR-4797-5p	HITS-CLIP	23824327
MIRT672476	hsa-miR-5007-5p	HITS-CLIP	23824327
MIRT672474	hsa-miR-4524a-3p	HITS-CLIP	23824327
MIRT672473	hsa-miR-924	HITS-CLIP	23824327
MIRT672470	hsa-miR-431-5p	HITS-CLIP	23824327
MIRT672469	hsa-miR-3672	HITS-CLIP	23824327
MIRT672468	hsa-miR-6864-3p	HITS-CLIP	23824327
MIRT672466	hsa-miR-8055	HITS-CLIP	23824327
MIRT672467	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT672477	hsa-miR-4797-5p	HITS-CLIP	23824327
MIRT672476	hsa-miR-5007-5p	HITS-CLIP	23824327
MIRT672475	hsa-miR-500b-3p	HITS-CLIP	23824327
MIRT672474	hsa-miR-4524a-3p	HITS-CLIP	23824327
MIRT672473	hsa-miR-924	HITS-CLIP	23824327
MIRT672472	hsa-miR-1251-3p	HITS-CLIP	23824327
MIRT672471	hsa-miR-6879-3p	HITS-CLIP	23824327
MIRT672470	hsa-miR-431-5p	HITS-CLIP	23824327
MIRT672469	hsa-miR-3672	HITS-CLIP	23824327
MIRT672468	hsa-miR-6864-3p	HITS-CLIP	23824327
MIRT672466	hsa-miR-8055	HITS-CLIP	23824327
MIRT672467	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT621168	hsa-miR-6890-3p	HITS-CLIP	23824327
MIRT621167	hsa-miR-6736-3p	HITS-CLIP	23824327
MIRT621166	hsa-miR-6752-3p	HITS-CLIP	23824327
MIRT621165	hsa-miR-6747-3p	HITS-CLIP	23824327
MIRT621163	hsa-miR-6787-3p	HITS-CLIP	23824327
MIRT621162	hsa-miR-7113-3p	HITS-CLIP	23824327
MIRT621161	hsa-miR-4772-3p	HITS-CLIP	23824327
MIRT621160	hsa-miR-4695-3p	HITS-CLIP	23824327
MIRT621159	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT621158	hsa-miR-6791-3p	HITS-CLIP	23824327
MIRT621157	hsa-miR-6829-3p	HITS-CLIP	23824327
MIRT629994	hsa-miR-7641	HITS-CLIP	23824327
MIRT621156	hsa-miR-6836-3p	HITS-CLIP	23824327
MIRT621168	hsa-miR-6890-3p	HITS-CLIP	23824327
MIRT621167	hsa-miR-6736-3p	HITS-CLIP	23824327
MIRT621166	hsa-miR-6752-3p	HITS-CLIP	23824327
MIRT621165	hsa-miR-6747-3p	HITS-CLIP	23824327
MIRT621163	hsa-miR-6787-3p	HITS-CLIP	23824327
MIRT621162	hsa-miR-7113-3p	HITS-CLIP	23824327
MIRT621161	hsa-miR-4772-3p	HITS-CLIP	23824327
MIRT621160	hsa-miR-4695-3p	HITS-CLIP	23824327
MIRT621159	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT621158	hsa-miR-6791-3p	HITS-CLIP	23824327
MIRT621157	hsa-miR-6829-3p	HITS-CLIP	23824327
MIRT629994	hsa-miR-7641	HITS-CLIP	23824327
MIRT621156	hsa-miR-6836-3p	HITS-CLIP	23824327
MIRT621168	hsa-miR-6890-3p	HITS-CLIP	23824327
MIRT621167	hsa-miR-6736-3p	HITS-CLIP	23824327
MIRT621166	hsa-miR-6752-3p	HITS-CLIP	23824327
MIRT621165	hsa-miR-6747-3p	HITS-CLIP	23824327
MIRT621163	hsa-miR-6787-3p	HITS-CLIP	23824327
MIRT621162	hsa-miR-7113-3p	HITS-CLIP	23824327
MIRT621161	hsa-miR-4772-3p	HITS-CLIP	23824327
MIRT621160	hsa-miR-4695-3p	HITS-CLIP	23824327
MIRT621159	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT621158	hsa-miR-6791-3p	HITS-CLIP	23824327
MIRT621157	hsa-miR-6829-3p	HITS-CLIP	23824327
MIRT629995	hsa-miR-3622b-5p	HITS-CLIP	23824327
MIRT629994	hsa-miR-7641	HITS-CLIP	23824327
MIRT621156	hsa-miR-6836-3p	HITS-CLIP	23824327
MIRT621168	hsa-miR-6890-3p	HITS-CLIP	23824327
MIRT621167	hsa-miR-6736-3p	HITS-CLIP	23824327
MIRT632072	hsa-miR-6840-3p	HITS-CLIP	23824327
MIRT632071	hsa-miR-1915-3p	HITS-CLIP	23824327
MIRT632070	hsa-miR-6764-5p	HITS-CLIP	23824327
MIRT632069	hsa-miR-4726-3p	HITS-CLIP	23824327
MIRT621166	hsa-miR-6752-3p	HITS-CLIP	23824327
MIRT621165	hsa-miR-6747-3p	HITS-CLIP	23824327
MIRT621164	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT621163	hsa-miR-6787-3p	HITS-CLIP	23824327
MIRT621162	hsa-miR-7113-3p	HITS-CLIP	23824327
MIRT621161	hsa-miR-4772-3p	HITS-CLIP	23824327
MIRT621160	hsa-miR-4695-3p	HITS-CLIP	23824327
MIRT621159	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT621158	hsa-miR-6791-3p	HITS-CLIP	23824327
MIRT621157	hsa-miR-6829-3p	HITS-CLIP	23824327
MIRT629995	hsa-miR-3622b-5p	HITS-CLIP	23824327
MIRT629994	hsa-miR-7641	HITS-CLIP	23824327
MIRT621156	hsa-miR-6836-3p	HITS-CLIP	23824327
MIRT621168	hsa-miR-6890-3p	HITS-CLIP	23824327
MIRT621167	hsa-miR-6736-3p	HITS-CLIP	23824327
MIRT621166	hsa-miR-6752-3p	HITS-CLIP	23824327
MIRT621165	hsa-miR-6747-3p	HITS-CLIP	23824327
MIRT621164	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT621163	hsa-miR-6787-3p	HITS-CLIP	23824327
MIRT621162	hsa-miR-7113-3p	HITS-CLIP	23824327
MIRT621161	hsa-miR-4772-3p	HITS-CLIP	23824327
MIRT621160	hsa-miR-4695-3p	HITS-CLIP	23824327
MIRT621159	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT621158	hsa-miR-6791-3p	HITS-CLIP	23824327
MIRT621157	hsa-miR-6829-3p	HITS-CLIP	23824327
MIRT629995	hsa-miR-3622b-5p	HITS-CLIP	23824327
MIRT629994	hsa-miR-7641	HITS-CLIP	23824327
MIRT621156	hsa-miR-6836-3p	HITS-CLIP	23824327
MIRT621168	hsa-miR-6890-3p	HITS-CLIP	23824327
MIRT621167	hsa-miR-6736-3p	HITS-CLIP	23824327
MIRT621166	hsa-miR-6752-3p	HITS-CLIP	23824327
MIRT621165	hsa-miR-6747-3p	HITS-CLIP	23824327
MIRT621164	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT621163	hsa-miR-6787-3p	HITS-CLIP	23824327
MIRT621162	hsa-miR-7113-3p	HITS-CLIP	23824327
MIRT621161	hsa-miR-4772-3p	HITS-CLIP	23824327
MIRT621160	hsa-miR-4695-3p	HITS-CLIP	23824327
MIRT621159	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT621158	hsa-miR-6791-3p	HITS-CLIP	23824327
MIRT621157	hsa-miR-6829-3p	HITS-CLIP	23824327
MIRT621156	hsa-miR-6836-3p	HITS-CLIP	23824327
MIRT532092	hsa-miR-3609	PAR-CLIP	22012620
MIRT532091	hsa-miR-548ah-5p	PAR-CLIP	22012620
MIRT532090	hsa-miR-495-5p	PAR-CLIP	22012620
MIRT532089	hsa-miR-1278	PAR-CLIP	22012620
MIRT532088	hsa-miR-8062	PAR-CLIP	22012620
MIRT532087	hsa-miR-4766-5p	PAR-CLIP	22012620
MIRT532086	hsa-miR-4668-5p	PAR-CLIP	22012620
MIRT532085	hsa-miR-3153	PAR-CLIP	22012620
MIRT532084	hsa-miR-6733-5p	PAR-CLIP	22012620
MIRT532083	hsa-miR-6739-5p	PAR-CLIP	22012620
MIRT532082	hsa-miR-628-5p	PAR-CLIP	22012620
MIRT672472	hsa-miR-1251-3p	HITS-CLIP	27418678
MIRT672467	hsa-miR-129-5p	HITS-CLIP	27418678
MIRT672469	hsa-miR-3672	HITS-CLIP	27418678
MIRT672470	hsa-miR-431-5p	HITS-CLIP	27418678
MIRT672474	hsa-miR-4524a-3p	HITS-CLIP	27418678
MIRT672477	hsa-miR-4797-5p	HITS-CLIP	27418678
MIRT672476	hsa-miR-5007-5p	HITS-CLIP	27418678
MIRT672468	hsa-miR-6864-3p	HITS-CLIP	27418678
MIRT672466	hsa-miR-8055	HITS-CLIP	27418678
MIRT672473	hsa-miR-924	HITS-CLIP	27418678
MIRT672477	hsa-miR-4797-5p	HITS-CLIP	23824327
MIRT672476	hsa-miR-5007-5p	HITS-CLIP	23824327
MIRT672474	hsa-miR-4524a-3p	HITS-CLIP	23824327
MIRT672473	hsa-miR-924	HITS-CLIP	23824327
MIRT672472	hsa-miR-1251-3p	HITS-CLIP	23824327
MIRT672471	hsa-miR-6879-3p	HITS-CLIP	23824327
MIRT672470	hsa-miR-431-5p	HITS-CLIP	23824327
MIRT672469	hsa-miR-3672	HITS-CLIP	23824327
MIRT672468	hsa-miR-6864-3p	HITS-CLIP	23824327
MIRT672466	hsa-miR-8055	HITS-CLIP	23824327
MIRT672467	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT621168	hsa-miR-6890-3p	HITS-CLIP	23824327
MIRT621167	hsa-miR-6736-3p	HITS-CLIP	23824327
MIRT621166	hsa-miR-6752-3p	HITS-CLIP	23824327
MIRT621165	hsa-miR-6747-3p	HITS-CLIP	23824327
MIRT621164	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT621163	hsa-miR-6787-3p	HITS-CLIP	23824327
MIRT621162	hsa-miR-7113-3p	HITS-CLIP	23824327
MIRT621161	hsa-miR-4772-3p	HITS-CLIP	23824327
MIRT621160	hsa-miR-4695-3p	HITS-CLIP	23824327
MIRT621159	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT621158	hsa-miR-6791-3p	HITS-CLIP	23824327
MIRT621157	hsa-miR-6829-3p	HITS-CLIP	23824327
MIRT629994	hsa-miR-7641	HITS-CLIP	23824327
MIRT621156	hsa-miR-6836-3p	HITS-CLIP	23824327
MIRT672477	hsa-miR-4797-5p	HITS-CLIP	23824327
MIRT672476	hsa-miR-5007-5p	HITS-CLIP	23824327
MIRT672474	hsa-miR-4524a-3p	HITS-CLIP	23824327
MIRT672473	hsa-miR-924	HITS-CLIP	23824327
MIRT672472	hsa-miR-1251-3p	HITS-CLIP	23824327
MIRT672471	hsa-miR-6879-3p	HITS-CLIP	23824327
MIRT672470	hsa-miR-431-5p	HITS-CLIP	23824327
MIRT672469	hsa-miR-3672	HITS-CLIP	23824327
MIRT672468	hsa-miR-6864-3p	HITS-CLIP	23824327
MIRT672466	hsa-miR-8055	HITS-CLIP	23824327
MIRT672467	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT672477	hsa-miR-4797-5p	HITS-CLIP	23824327
MIRT672476	hsa-miR-5007-5p	HITS-CLIP	23824327
MIRT672474	hsa-miR-4524a-3p	HITS-CLIP	23824327
MIRT672473	hsa-miR-924	HITS-CLIP	23824327
MIRT672470	hsa-miR-431-5p	HITS-CLIP	23824327
MIRT672469	hsa-miR-3672	HITS-CLIP	23824327
MIRT672468	hsa-miR-6864-3p	HITS-CLIP	23824327
MIRT672466	hsa-miR-8055	HITS-CLIP	23824327
MIRT672467	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT672477	hsa-miR-4797-5p	HITS-CLIP	23824327
MIRT672476	hsa-miR-5007-5p	HITS-CLIP	23824327
MIRT672475	hsa-miR-500b-3p	HITS-CLIP	23824327
MIRT672474	hsa-miR-4524a-3p	HITS-CLIP	23824327
MIRT672473	hsa-miR-924	HITS-CLIP	23824327
MIRT672472	hsa-miR-1251-3p	HITS-CLIP	23824327
MIRT672471	hsa-miR-6879-3p	HITS-CLIP	23824327
MIRT672470	hsa-miR-431-5p	HITS-CLIP	23824327
MIRT672469	hsa-miR-3672	HITS-CLIP	23824327
MIRT672468	hsa-miR-6864-3p	HITS-CLIP	23824327
MIRT672466	hsa-miR-8055	HITS-CLIP	23824327
MIRT672467	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT621168	hsa-miR-6890-3p	HITS-CLIP	23824327
MIRT621167	hsa-miR-6736-3p	HITS-CLIP	23824327
MIRT621166	hsa-miR-6752-3p	HITS-CLIP	23824327
MIRT621165	hsa-miR-6747-3p	HITS-CLIP	23824327
MIRT621163	hsa-miR-6787-3p	HITS-CLIP	23824327
MIRT621162	hsa-miR-7113-3p	HITS-CLIP	23824327
MIRT621161	hsa-miR-4772-3p	HITS-CLIP	23824327
MIRT621160	hsa-miR-4695-3p	HITS-CLIP	23824327
MIRT621159	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT621158	hsa-miR-6791-3p	HITS-CLIP	23824327
MIRT621157	hsa-miR-6829-3p	HITS-CLIP	23824327
MIRT629994	hsa-miR-7641	HITS-CLIP	23824327
MIRT621156	hsa-miR-6836-3p	HITS-CLIP	23824327
MIRT621168	hsa-miR-6890-3p	HITS-CLIP	23824327
MIRT621167	hsa-miR-6736-3p	HITS-CLIP	23824327
MIRT621166	hsa-miR-6752-3p	HITS-CLIP	23824327
MIRT621165	hsa-miR-6747-3p	HITS-CLIP	23824327
MIRT621163	hsa-miR-6787-3p	HITS-CLIP	23824327
MIRT621162	hsa-miR-7113-3p	HITS-CLIP	23824327
MIRT621161	hsa-miR-4772-3p	HITS-CLIP	23824327
MIRT621160	hsa-miR-4695-3p	HITS-CLIP	23824327
MIRT621159	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT621158	hsa-miR-6791-3p	HITS-CLIP	23824327
MIRT621157	hsa-miR-6829-3p	HITS-CLIP	23824327
MIRT629994	hsa-miR-7641	HITS-CLIP	23824327
MIRT621156	hsa-miR-6836-3p	HITS-CLIP	23824327
MIRT621168	hsa-miR-6890-3p	HITS-CLIP	23824327
MIRT621167	hsa-miR-6736-3p	HITS-CLIP	23824327
MIRT621166	hsa-miR-6752-3p	HITS-CLIP	23824327
MIRT621165	hsa-miR-6747-3p	HITS-CLIP	23824327
MIRT621163	hsa-miR-6787-3p	HITS-CLIP	23824327
MIRT621162	hsa-miR-7113-3p	HITS-CLIP	23824327
MIRT621161	hsa-miR-4772-3p	HITS-CLIP	23824327
MIRT621160	hsa-miR-4695-3p	HITS-CLIP	23824327
MIRT621159	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT621158	hsa-miR-6791-3p	HITS-CLIP	23824327
MIRT621157	hsa-miR-6829-3p	HITS-CLIP	23824327
MIRT629995	hsa-miR-3622b-5p	HITS-CLIP	23824327
MIRT629994	hsa-miR-7641	HITS-CLIP	23824327
MIRT621156	hsa-miR-6836-3p	HITS-CLIP	23824327
MIRT621168	hsa-miR-6890-3p	HITS-CLIP	23824327
MIRT621167	hsa-miR-6736-3p	HITS-CLIP	23824327
MIRT632072	hsa-miR-6840-3p	HITS-CLIP	23824327
MIRT632071	hsa-miR-1915-3p	HITS-CLIP	23824327
MIRT632070	hsa-miR-6764-5p	HITS-CLIP	23824327
MIRT632069	hsa-miR-4726-3p	HITS-CLIP	23824327
MIRT621166	hsa-miR-6752-3p	HITS-CLIP	23824327
MIRT621165	hsa-miR-6747-3p	HITS-CLIP	23824327
MIRT621164	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT621163	hsa-miR-6787-3p	HITS-CLIP	23824327
MIRT621162	hsa-miR-7113-3p	HITS-CLIP	23824327
MIRT621161	hsa-miR-4772-3p	HITS-CLIP	23824327
MIRT621160	hsa-miR-4695-3p	HITS-CLIP	23824327
MIRT621159	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT621158	hsa-miR-6791-3p	HITS-CLIP	23824327
MIRT621157	hsa-miR-6829-3p	HITS-CLIP	23824327
MIRT629995	hsa-miR-3622b-5p	HITS-CLIP	23824327
MIRT629994	hsa-miR-7641	HITS-CLIP	23824327
MIRT621156	hsa-miR-6836-3p	HITS-CLIP	23824327
MIRT621168	hsa-miR-6890-3p	HITS-CLIP	23824327
MIRT621167	hsa-miR-6736-3p	HITS-CLIP	23824327
MIRT621166	hsa-miR-6752-3p	HITS-CLIP	23824327
MIRT621165	hsa-miR-6747-3p	HITS-CLIP	23824327
MIRT621164	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT621163	hsa-miR-6787-3p	HITS-CLIP	23824327
MIRT621162	hsa-miR-7113-3p	HITS-CLIP	23824327
MIRT621161	hsa-miR-4772-3p	HITS-CLIP	23824327
MIRT621160	hsa-miR-4695-3p	HITS-CLIP	23824327
MIRT621159	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT621158	hsa-miR-6791-3p	HITS-CLIP	23824327
MIRT621157	hsa-miR-6829-3p	HITS-CLIP	23824327
MIRT629995	hsa-miR-3622b-5p	HITS-CLIP	23824327
MIRT629994	hsa-miR-7641	HITS-CLIP	23824327
MIRT621156	hsa-miR-6836-3p	HITS-CLIP	23824327
MIRT621168	hsa-miR-6890-3p	HITS-CLIP	23824327
MIRT621167	hsa-miR-6736-3p	HITS-CLIP	23824327
MIRT621166	hsa-miR-6752-3p	HITS-CLIP	23824327
MIRT621165	hsa-miR-6747-3p	HITS-CLIP	23824327
MIRT621164	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT621163	hsa-miR-6787-3p	HITS-CLIP	23824327
MIRT621162	hsa-miR-7113-3p	HITS-CLIP	23824327
MIRT621161	hsa-miR-4772-3p	HITS-CLIP	23824327
MIRT621160	hsa-miR-4695-3p	HITS-CLIP	23824327
MIRT621159	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT621158	hsa-miR-6791-3p	HITS-CLIP	23824327
MIRT621157	hsa-miR-6829-3p	HITS-CLIP	23824327
MIRT621156	hsa-miR-6836-3p	HITS-CLIP	23824327
MIRT532092	hsa-miR-3609	PAR-CLIP	22012620
MIRT532091	hsa-miR-548ah-5p	PAR-CLIP	22012620
MIRT532090	hsa-miR-495-5p	PAR-CLIP	22012620
MIRT532089	hsa-miR-1278	PAR-CLIP	22012620
MIRT532088	hsa-miR-8062	PAR-CLIP	22012620
MIRT532087	hsa-miR-4766-5p	PAR-CLIP	22012620
MIRT532086	hsa-miR-4668-5p	PAR-CLIP	22012620
MIRT532085	hsa-miR-3153	PAR-CLIP	22012620
MIRT532084	hsa-miR-6733-5p	PAR-CLIP	22012620
MIRT532083	hsa-miR-6739-5p	PAR-CLIP	22012620
MIRT532082	hsa-miR-628-5p	PAR-CLIP	22012620
MIRT1322370	hsa-miR-1226	CLIP-seq
MIRT1322371	hsa-miR-184	CLIP-seq
MIRT1322372	hsa-miR-2117	CLIP-seq
MIRT1322373	hsa-miR-3154	CLIP-seq
MIRT1322374	hsa-miR-3179	CLIP-seq
MIRT1322375	hsa-miR-3198	CLIP-seq
MIRT1322376	hsa-miR-3654	CLIP-seq
MIRT1322377	hsa-miR-4277	CLIP-seq
MIRT1322378	hsa-miR-4309	CLIP-seq
MIRT1322379	hsa-miR-4733-3p	CLIP-seq
MIRT1322380	hsa-miR-4768-5p	CLIP-seq
MIRT1322381	hsa-miR-4804-5p	CLIP-seq
MIRT1322370	hsa-miR-1226	CLIP-seq
MIRT1322379	hsa-miR-4733-3p	CLIP-seq
MIRT2615929	hsa-let-7a	CLIP-seq
MIRT2615930	hsa-let-7b	CLIP-seq
MIRT2615931	hsa-let-7c	CLIP-seq
MIRT2615932	hsa-let-7d	CLIP-seq
MIRT2615933	hsa-let-7e	CLIP-seq
MIRT2615934	hsa-let-7f	CLIP-seq
MIRT2615935	hsa-let-7g	CLIP-seq
MIRT2615936	hsa-let-7i	CLIP-seq
MIRT2615937	hsa-miR-1207-3p	CLIP-seq
MIRT1322370	hsa-miR-1226	CLIP-seq
MIRT1322371	hsa-miR-184	CLIP-seq
MIRT2615938	hsa-miR-194	CLIP-seq
MIRT1322372	hsa-miR-2117	CLIP-seq
MIRT2615939	hsa-miR-221	CLIP-seq
MIRT2615940	hsa-miR-222	CLIP-seq
MIRT2615941	hsa-miR-3064-3p	CLIP-seq
MIRT1322373	hsa-miR-3154	CLIP-seq
MIRT1322374	hsa-miR-3179	CLIP-seq
MIRT1322375	hsa-miR-3198	CLIP-seq
MIRT2615942	hsa-miR-324-5p	CLIP-seq
MIRT2615943	hsa-miR-329	CLIP-seq
MIRT2615944	hsa-miR-362-3p	CLIP-seq
MIRT1322376	hsa-miR-3654	CLIP-seq
MIRT2615945	hsa-miR-3674	CLIP-seq
MIRT2615946	hsa-miR-3941	CLIP-seq
MIRT1322377	hsa-miR-4277	CLIP-seq
MIRT1322378	hsa-miR-4309	CLIP-seq
MIRT2615947	hsa-miR-4458	CLIP-seq
MIRT2615948	hsa-miR-4500	CLIP-seq
MIRT2615949	hsa-miR-4732-5p	CLIP-seq
MIRT1322379	hsa-miR-4733-3p	CLIP-seq
MIRT2615950	hsa-miR-4761-5p	CLIP-seq
MIRT1322380	hsa-miR-4768-5p	CLIP-seq
MIRT1322381	hsa-miR-4804-5p	CLIP-seq
MIRT2615951	hsa-miR-548v	CLIP-seq
MIRT2615952	hsa-miR-603	CLIP-seq
MIRT2615953	hsa-miR-98	CLIP-seq
MIRT2615929	hsa-let-7a	CLIP-seq
MIRT2615930	hsa-let-7b	CLIP-seq
MIRT2615931	hsa-let-7c	CLIP-seq
MIRT2615932	hsa-let-7d	CLIP-seq
MIRT2615933	hsa-let-7e	CLIP-seq
MIRT2615934	hsa-let-7f	CLIP-seq
MIRT2615935	hsa-let-7g	CLIP-seq
MIRT2615936	hsa-let-7i	CLIP-seq
MIRT2615937	hsa-miR-1207-3p	CLIP-seq
MIRT1322370	hsa-miR-1226	CLIP-seq
MIRT1322371	hsa-miR-184	CLIP-seq
MIRT2615938	hsa-miR-194	CLIP-seq
MIRT1322372	hsa-miR-2117	CLIP-seq
MIRT2615939	hsa-miR-221	CLIP-seq
MIRT2615940	hsa-miR-222	CLIP-seq
MIRT2615941	hsa-miR-3064-3p	CLIP-seq
MIRT1322373	hsa-miR-3154	CLIP-seq
MIRT1322374	hsa-miR-3179	CLIP-seq
MIRT1322375	hsa-miR-3198	CLIP-seq
MIRT2615942	hsa-miR-324-5p	CLIP-seq
MIRT2615943	hsa-miR-329	CLIP-seq
MIRT2615944	hsa-miR-362-3p	CLIP-seq
MIRT1322376	hsa-miR-3654	CLIP-seq
MIRT2615945	hsa-miR-3674	CLIP-seq
MIRT2615946	hsa-miR-3941	CLIP-seq
MIRT1322377	hsa-miR-4277	CLIP-seq
MIRT1322378	hsa-miR-4309	CLIP-seq
MIRT2615947	hsa-miR-4458	CLIP-seq
MIRT2615948	hsa-miR-4500	CLIP-seq
MIRT2615949	hsa-miR-4732-5p	CLIP-seq
MIRT1322379	hsa-miR-4733-3p	CLIP-seq
MIRT2615950	hsa-miR-4761-5p	CLIP-seq
MIRT1322380	hsa-miR-4768-5p	CLIP-seq
MIRT1322381	hsa-miR-4804-5p	CLIP-seq
MIRT2615951	hsa-miR-548v	CLIP-seq
MIRT2615952	hsa-miR-603	CLIP-seq
MIRT2615953	hsa-miR-98	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005737	Component	Cytoplasm	IEA
GO:0005813	Component	Centrosome	IEA
GO:0005814	Component	Centriole	IBA	21873635
GO:0007099	Process	Centriole replication	IBA	21873635
GO:0007368	Process	Determination of left/right symmetry	IEA
GO:0010457	Process	Centriole-centriole cohesion	IBA	21873635
GO:0032053	Process	Ciliary basal body organization	IBA	21873635
GO:0036064	Component	Ciliary basal body	IBA	21873635
GO:0036064	Component	Ciliary basal body	IDA	22939636

Other IDs

• MIM: 610436
• HGNC: 18654
• e!Ensembl: ENSG00000176225

Protein

• UniProt ID: Q86VV8
• Protein name: Rotatin
• Protein function: Involved in the genetic cascade that governs left-right specification. Plays a role in the maintenance of a normal ciliary structure. Required for correct asymmetric expression of NODAL, LEFTY and PITX2.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF14726	RTTN_N	16 → 112	Rotatin, an armadillo repeat protein, centriole functioning	Family

• Sequence:

  MVLAGLIRKLGHQLAEIRERALKSILCKIEHNLICYADLIQERQLFLHLLEWFNFPSVPM
  KEEVLNLLSRLVKYPPAVQHLVDVGAVEFLSKLRSNVEPNLQAEIDGILDGLFLLPSEVP
  ALSSASYQTNQTELSKNPEILTGYFPQDKSNFQQMEVPPRPVVNQTVKCLKFSTFPWLPL
  TTTDRHVLSSNESSLRSSNHTLIWNTCELLKDVIMQDFPAEIFLQRPKIVQSLLSLLKLA
  FGDGKHRLALQSVSCLQQLCMYLRNRLNFHRDPGFFSNKHDTVSQNSSLSYCHEARGTHH
  SQNPSPGSSSPRPSVVGRTGQRPRGDGQDWDAASSSGSSSHAHVNSRISVHSPLDMGHID
  LPELETEDTLELQFQQLSLPQFCVSILESAVPLLRTGSRQVIIRVLELLTEDMTLIGEAI
  STDIWDDSSLFGIDMKEKLLLVLGALGETMCYHKSSISLEQPEVMLVHHRMAFISISLFA
  VRLLQTLLPVEKASEFLSEPMSTALFLLSLDMPISLEYPNIHEAVVAYLEQLNSENYSIY
  KRTAEAVYSIECTCNFLSDIGKEGEKNLLELVELADQALRSFSYHQHFPLIKEIISICSK
  IWKSAQASPLLQGESQKVLLHMLSHPLPRVKAETYHCCLEITKECLGVHNVTKPVSSLCN
  GIHFLLHPKVLYEISVFGIQEPESEVNTAAKAILLYLLQGRLMMTALTWNKFIESLCPVI
  PILQGYADTEDPLGNCILLLSKASSDTEEMLPCTTRLKSMLRLLLVKKPSVRSLALKLLA
  FHLTSEEGADTKRPLIDARVLSRVTDLFIGKKPIELRLDDRRELVIKLETVEKVYEIFTS
  DDVDLVLRKSAAEQLAVIMQDIKMHAVVKKLCLIDKIIEYLNECVSQDGKVVECLVQPCL
  TLLRKVLCGDPVMRVSLSQQSSLLTVLFRVSLIFHEDCSVVTEVGALFCLLLFDEVSRMD
  MWSVNPSNKPSLPSVFSLPVSVFRRYHLPVHVIGHHAVSPYSIVLPLSADCLALKPVSDM
  LRIAWNLSWYHGSDNLLKQMNSETKTQEILDALKLSTEDILTLKITHMASGLQDCLHSIV
  QAATHREVRAAVTRMSFYLLNDRLSLKGCPGPCGVTLKSLAWHTALNRFLQVLPACTEDE
  KLLIDIIHFLNKLIKEQRKNSSLELLNWILELLLRHSANPLLDLLVLTESQAREETDDIR
  TAVRQQLQKELIALFDTLLLNFMEVTDRKCSELLYVFQTQLALKLLQCLKVTDAPHFYGL
  PSLERTLRGMANLTAFPGWSSHSPLTKPLDICVKYLSGLLEVITSFYVERGGNAMSFMGK
  GVTKSTILCLLHLSHEMMAQAGSLEWMSLWFLPLGSHSEEHIPTQQGLAWLIPLWVDRDP
  EVRFTSLGLGSALTTLETGCVALANSCQNISGGLWGTVVNILLDQSECSMVRREAAFILQ
  NLLVIPMPTEIIKDYTWQGPCVHDEDSGLSLIGKPALQALLYHCHFYEHLNQMVKHCYLG
  RCMFDLNFSAFDRNSESNDLNGLDDSFKFWRAPSRTSQDRDPSSLSTSETTVAPSLGSTE
  FQPLVQSTTLLPEASHDQFVAQGHQESTSPRPPHDSSLSAPLPKLCVFVTPSLLSAMCSL
  LDNLLTIAPRDTAKAFRQAHLIELLCSIADATLIQTCVQELRALLPSSPPAEHTQAQVSF
  LLEYLSSLSRLLQSCLLVEPDLVIQDELVKPLITNIIGILTICTKDVLDKELISAFYHTW
  THLFNLLAMLLRKAGAITLPFVTVALAKHWTAAIDMFCTCAGLSATCPALYTASLQFLSV
  LLTEEAKGHLQAKSKTHLCCSPTVASLLDDSQENQKSLEQLSDVILQCYEGKSSKDILKR
  VAANALMSLLAVSRRAQKHALKANLIDNCMEQMKHINAQLNLDSLRPGKAALKKKEDGVI
  KELSIAMQLLRNCLYQNEECKEAALEAHLVPVLHSLWPWILMDDSLMQISLQLLCVYTAN
  FPNGCSSLCWSSCGQHPVQATHRGAVSNSLMLCILKLASQMPLENTTVQQMVFMLLSNLA
  LSHDCKGVIQKSNFLQNFLSLALPKGGNKHLSNLTILWLKLLLNISSGEDGQQMILRLDG
  CLDLLTEMSKYKHKSSPLLPLLIFHNVCFSPANKPKILANEKVITVLAACLESENQNAQR
  IGAAALWALIYNYQKAKTALKSPSVKRRVDEAYSLAKKTFPNSEANPLNAYYLKCLENLV
  QLLNSS

• Sequence length: 2226

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Agenesis of corpus callosum	Agenesis of corpus callosum	rs754914260, rs1057519053, rs1057519056, rs1057519054, rs1057519055, rs1057519057, rs1384496494, rs1599017933
Craniosynostosis	Craniosynostosis	rs104893895, rs587777006, rs587777007, rs587777008, rs587777010, rs864321680, rs864321681, rs1057517670, rs1064794325, rs1555750816, rs1599823350
Cryptorchidism	Cryptorchidism	rs121912555, rs104894697, rs104894698, rs398122886
Mental retardation	Severe intellectual disability, Moderate intellectual disability, 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	22939636
Lobar holoprosencephaly	Lobar Holoprosencephaly	rs121909645
Microcephaly	Microcephaly, Primary 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	22939636
Microcephaly, short stature, and polymicrogyria with or without seizures	MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH OR WITHOUT SEIZURES, MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH SEIZURES	rs318240757, rs1555707336	22939636, 29967526, 26608784
Microphthalmos	Bilateral microphthalmos	rs794726862, rs1329285216
Periventricular nodular heterotopia	Periventricular Nodular Heterotopia	rs398122410, rs1557177663, rs1557179349, rs1554054827, rs1554054831, rs1554054880, rs879036238, rs1558087795, rs1558087712, rs1580027036, rs1571844539, rs1580026238, rs2046707868, rs2059194330
Polymicrogyria	Polymicrogyria	rs1558010146, rs1558003446, rs1575508937

Unknown
Disease term	Disease name	Evidence	References	Source
Dwarfism	microcephalic primordial dwarfism due to RTTN deficiency			GenCC

Associations from Text Mining
Disease Name	Relationship Type	References
Aneuploidy	Associate	30879067
Autosomal Recessive Primary Microcephaly	Associate	28811500, 29967526, 30879067
Capillary Malformation Arteriovenous Malformation	Associate	30879067
Hemangioma Cavernous Central Nervous System	Associate	30879067
Intellectual Disability	Associate	29967526, 30879067
Laryngeal Neoplasms	Associate	32276964
Lissencephaly	Associate	30879067
Malformations of Cortical Development	Associate	30879067
Microcephaly	Associate	28811500, 29967526, 30168418, 30879067, 34207628
Mosaic variegated aneuploidy syndrome	Inhibit	34207628
Periventricular Nodular Heterotopia	Associate	30879067
Pituitary dwarfism 1	Associate	29967526
Polymicrogyria	Associate	22939636, 29967526, 30879067
Pontocerebellar Hypoplasia	Associate	29967526
Seizures	Associate	29967526