RTTN (rotatin)

Gene

• Entrez ID: 25914
• Gene name: Rotatin
• Gene symbol: RTTN
• Synonyms (NCBI Gene): 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:0005515	Function	Protein binding	IPI	30168418
GO:0005737	Component	Cytoplasm	IEA
GO:0005813	Component	Centrosome	IDA	30168418
GO:0005813	Component	Centrosome	IEA
GO:0005814	Component	Centriole	IBA
GO:0005814	Component	Centriole	IDA	30168418
GO:0005856	Component	Cytoskeleton	IEA
GO:0005929	Component	Cilium	IEA
GO:0007099	Process	Centriole replication	IBA
GO:0007368	Process	Determination of left/right symmetry	IEA
GO:0010457	Process	Centriole-centriole cohesion	IBA
GO:0032053	Process	Ciliary basal body organization	IBA
GO:0036064	Component	Ciliary basal body	IBA
GO:0036064	Component	Ciliary basal body	IDA	22939636
GO:0036064	Component	Ciliary basal body	IEA
GO:0042995	Component	Cell projection	IEA
GO:0044782	Process	Cilium organization	IEA

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

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
Microcephalic primordial dwarfism due to RTTN deficiency	Likely pathogenic; Pathogenic	rs200495808, rs1280580731, rs2145783332, rs2146138982, rs373987090, rs766635681, rs374356518, rs1599716037, rs780270096, rs864321621, rs864321620, rs775277800, rs756096769, rs377480200, rs2512602579, rs1319106571, rs2511867200, rs1599865356, rs1131691284, rs1256028809, rs1451563103	RCV005630935 RCV001784922 RCV001783698 RCV001783699 RCV001783700 RCV004812413 RCV005630993 RCV005254644 RCV000210342 RCV000210335 RCV000210341 RCV000210338 RCV003148053 RCV003148479 RCV003326041 RCV003388536 RCV003479637 RCV003990666 RCV004559127 RCV000681616 RCV001255727	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Microcephaly	Pathogenic; Likely pathogenic	rs779516131, rs2145420319	RCV002272509 RCV002272125	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH SEIZURES	Likely pathogenic; Pathogenic	rs1555707336, rs318240757	RCV000499627 RCV000030785	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Primary microcephaly	Likely pathogenic; Pathogenic	rs780270096, rs864321621, rs864321620, rs775277800	RCV000203564 RCV000203567 RCV000203563 RCV000203569	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
RTTN-related disorder	Likely pathogenic; Pathogenic	rs1195644432	RCV003408010	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BILATERAL GENERALIZED POLYMICROGYRIA	—	Disgenet, GenCC Disgenet, GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL MICROCEPHALY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Disease Association NOS	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LARYNGEAL SQUAMOUS CELL CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH OR WITHOUT SEIZURES	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Aneuploidy	Aneuploidy	Pubtator	30879067	Associate	★☆☆☆☆ Found in Text Mining only
Arachnoid Cysts	Arachnoid cyst	HPO_DG			★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	30324028		★☆☆☆☆ Found in Text Mining only
Autosomal Recessive Primary Microcephaly	Primary microcephaly	Pubtator	28811500, 29967526, 30879067	Associate	★☆☆☆☆ Found in Text Mining only
Bilateral microphthalmos	Microphthalmos	HPO_DG			★☆☆☆☆ Found in Text Mining only
Brachydactyly	Brachydactyly	BEFREE	30927481		★☆☆☆☆ Found in Text Mining only
Cerebellar atrophy	Cerebellar atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital anomaly of brain	Brain malformation	BEFREE	26940245, 29883675, 30879067		★☆☆☆☆ Found in Text Mining only
Congenital microcephaly	Congenital Microcephaly	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cortical Dysplasia	Cortical Dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Craniosynostosis	Craniosynostosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dermatitis	Dermatitis	BEFREE	26940245		★☆☆☆☆ Found in Text Mining only
Duodenal atresia	Duodenal Atresia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	BEFREE	26608784, 29356416, 29883675, 29967526, 30121372		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dyssomnias	Dyssomnia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	HPO_DG			★☆☆☆☆ Found in Text Mining only
Exophthalmos	Proptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoplasia of the optic nerve	Hypoplasia Of The Optic Nerve	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypospadias	Hypospadias	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	GENOMICS_ENGLAND_DG	22939636		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	29967526, 30879067	Associate	★☆☆☆☆ Found in Text Mining only
Laryngeal Neoplasms	Laryngeal neoplasm	Pubtator	32276964	Associate	★☆☆☆☆ Found in Text Mining only
Lissencephaly	Lissencephaly	Pubtator	30879067	Associate	★☆☆☆☆ Found in Text Mining only
Lobar Holoprosencephaly	Lobar Holoprosencephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malformations of Cortical Development	Malformation of cortical development	BEFREE	29883675		★☆☆☆☆ Found in Text Mining only
Malformations of Cortical Development	Cortical development malformation	Pubtator	30879067	Associate	★☆☆☆☆ Found in Text Mining only
Malformations of Cortical Development, Group II	Malformation of cortical development	BEFREE	30879067		★☆☆☆☆ Found in Text Mining only
Microcephalic cortical malformations-short stature due to RTTN deficiency	Microcephalic Cortical Malformations-Short Stature	Orphanet			★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	Pubtator	28811500, 29967526, 30168418, 30879067, 34207628	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Microcephaly	Microcephaly	BEFREE	29883675, 29967526, 30121372		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Microcephaly	Microcephaly	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH OR WITHOUT SEIZURES	MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH OR WITHOUT SEIZURES	UNIPROT_DG	22939636		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH OR WITHOUT SEIZURES	MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH OR WITHOUT SEIZURES	GENOMICS_ENGLAND_DG	22939636, 26608784, 29967526		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH OR WITHOUT SEIZURES	MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH OR WITHOUT SEIZURES	ORPHANET_DG	26608784		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH OR WITHOUT SEIZURES	MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH OR WITHOUT SEIZURES	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH OR WITHOUT SEIZURES	MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH OR WITHOUT SEIZURES	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH SEIZURES	MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH OR WITHOUT SEIZURES	GENOMICS_ENGLAND_DG	22939636		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH SEIZURES	MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH OR WITHOUT SEIZURES	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Microstomia	Microstomia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Moderate intellectual disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mosaic variegated aneuploidy syndrome	Mosaic variegated aneuploidy	Pubtator	34207628	Inhibit	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	25305228		★☆☆☆☆ Found in Text Mining only
Pachygyria	Pachygyria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pelvic kidney	Pelvic kidney	HPO_DG			★☆☆☆☆ Found in Text Mining only
Periventricular Nodular Heterotopia	Periventricular nodular heterotopia	Pubtator	30879067	Associate	★☆☆☆☆ Found in Text Mining only
Periventricular Nodular Heterotopia	Periventricular Nodular Heterotopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pituitary dwarfism 1	Pituitary dwarfism	Pubtator	29967526	Associate	★☆☆☆☆ Found in Text Mining only
PITUITARY DWARFISM I	Pituitary dwarfism	BEFREE	26608784, 29356416, 29967526, 30121372		★☆☆☆☆ Found in Text Mining only
Polymicrogyria	Polymicrogyria	Pubtator	22939636, 29967526, 30879067	Associate	★☆☆☆☆ Found in Text Mining only
Polymicrogyria	Polymicrogyria	BEFREE	26608784, 26940245, 29356416, 30121372		★☆☆☆☆ Found in Text Mining only
Polymicrogyria	Polymicrogyria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pontocerebellar Hypoplasia	Pontocerebellar hypoplasia	Pubtator	29967526	Associate	★☆☆☆☆ Found in Text Mining only
Primary microcephaly	Microcephaly	GENOMICS_ENGLAND_DG	22939636		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Primary microcephaly	Microcephaly	BEFREE	26608784, 26940245, 28811500, 29356416, 29967526		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Seckel syndrome	Seckel Syndrome	BEFREE	26608784, 26940245		★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	29967526	Associate	★☆☆☆☆ Found in Text Mining only
Sensorineural hearing loss, bilateral	Sensorineural hearing loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sleep Disorders	Sleep Disorders	HPO_DG			★☆☆☆☆ Found in Text Mining only
Stereotyped Behavior	Stereotyped Behavior	HPO_DG			★☆☆☆☆ Found in Text Mining only
Unilateral agenesis of kidney	Renal aplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only