Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	23347
Gene name	Structural maintenance of chromosomes flexible hinge domain containing 1
Gene symbol	SMCHD1
Synonyms (NCBI Gene)	BAMSFSHD2
Chromosome	18
Chromosome location	18p11.32
Summary	This gene encodes a protein which contains a hinge region domain found in members of the SMC (structural maintenance of chromosomes) protein family. [provided by RefSeq, Dec 2011]

Show/Hide all (78)

SNP ID	Visualize variation	Clinical significance	Consequence
rs58683258	G>A,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, synonymous variant
rs72862973	A>G	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, non coding transcript variant, synonymous variant
rs76290319	T>A,C	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, non coding transcript variant, synonymous variant
rs112500113	T>C	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, synonymous variant
rs144115061	T>C,G	Likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant, genic downstream transcript variant
rs145233420	C>A	Conflicting-interpretations-of-pathogenicity	Missense variant, non coding transcript variant, coding sequence variant
rs201069969	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant
rs201466122	T>G	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, 5 prime UTR variant, non coding transcript variant
rs201631086	C>G,T	Conflicting-interpretations-of-pathogenicity, benign-likely-benign, not-provided	Intron variant
rs369550628	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant, 5 prime UTR variant, non coding transcript variant
rs371834462	G>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, downstream transcript variant, genic downstream transcript variant, non coding transcript variant, coding sequence variant
rs372945746	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, non coding transcript variant
rs374154803	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, non coding transcript variant
rs374899324	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, non coding transcript variant
rs375251871	T>C	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, non coding transcript variant
rs376328601	T>C	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, non coding transcript variant
rs377471712	C>A,T	Uncertain-significance, pathogenic	Missense variant, coding sequence variant, stop gained, non coding transcript variant
rs387907319	TGATA>-	Pathogenic	Inframe indel, coding sequence variant, stop gained, non coding transcript variant
rs397514623	C>T	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs397518422	C>T	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs535674229	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, non coding transcript variant
rs542259388	C>T	Conflicting-interpretations-of-pathogenicity	Intron variant
rs553970445	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, non coding transcript variant, coding sequence variant
rs755868793	T>C	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, synonymous variant, coding sequence variant
rs778279069	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, non coding transcript variant, coding sequence variant
rs778892054	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, non coding transcript variant, coding sequence variant
rs867104086	G>A,T	Likely-pathogenic	Missense variant, non coding transcript variant, stop gained, coding sequence variant
rs867598503	TT>-,TTT	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs886041918	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs886041921	A>G	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs886042392	G>A	Pathogenic, uncertain-significance	Coding sequence variant, non coding transcript variant, missense variant
rs886042417	G>A	Pathogenic	Splice donor variant
rs886043146	G>A	Pathogenic	Splice acceptor variant
rs886043182	GA>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs886043464	A>G	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, synonymous variant, intron variant, coding sequence variant, genic downstream transcript variant
rs886044129	A>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs886044257	->A	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs886044369	G>A,T	Likely-pathogenic, uncertain-significance	Splice donor variant
rs886044408	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, synonymous variant, genic downstream transcript variant
rs886044419	T>G	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs886044914	ATC>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, inframe deletion
rs1057519614	A>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1057519639	A>G	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs1057519640	A>G	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs1057519641	G>A,C,T	Pathogenic	5 prime UTR variant, synonymous variant, coding sequence variant, missense variant, non coding transcript variant
rs1057519642	A>T	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs1057519643	A>C,G	Likely-benign, pathogenic	5 prime UTR variant, synonymous variant, coding sequence variant, missense variant, non coding transcript variant
rs1057519644	G>A	Pathogenic	Missense variant, 5 prime UTR variant, non coding transcript variant, coding sequence variant
rs1057519645	A>T	Pathogenic	Missense variant, 5 prime UTR variant, non coding transcript variant, coding sequence variant
rs1057519646	G>A,T	Pathogenic	Missense variant, 5 prime UTR variant, non coding transcript variant, coding sequence variant
rs1135402737	T>C	Pathogenic	Missense variant, 5 prime UTR variant, non coding transcript variant, coding sequence variant
rs1135402738	T>A	Pathogenic	Missense variant, 5 prime UTR variant, non coding transcript variant, coding sequence variant
rs1135402739	A>C	Pathogenic	Missense variant, 5 prime UTR variant, non coding transcript variant, coding sequence variant
rs1135402740	T>G	Pathogenic	Missense variant, 5 prime UTR variant, non coding transcript variant, coding sequence variant
rs1135402741	C>G	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs1135402742	A>T	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs1135402743	G>C	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs1135402744	C>A	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs1135402745	A>G	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs1204021010	G>A,C	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1245372794	G>A	Pathogenic	Splice donor variant
rs1329504858	C>A,T	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant, missense variant
rs1555625396	G>A	Pathogenic	Splice donor variant
rs1555635144	->T	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1555642277	AGTAA>-	Pathogenic	Non coding transcript variant, intron variant, splice donor variant, coding sequence variant
rs1555644339	C>T	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs1555647265	C>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1555651730	->CAGA	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1555654127	G>C	Pathogenic	Intron variant, genic downstream transcript variant, splice donor variant
rs1555658855	->A	Likely-pathogenic	Non coding transcript variant, frameshift variant, genic downstream transcript variant, coding sequence variant
rs1568183325	GA>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1568188407	TT>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1568261067	T>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1568280995	G>T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1568350731	->T	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1568383892	T>A	Likely-pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant, non coding transcript variant
rs1598416221	G>A	Pathogenic	Coding sequence variant, synonymous variant, non coding transcript variant
rs1598426626	G>A	Likely-pathogenic	Intron variant

306

Show/Hide all (306)

miRTarBase ID	miRNA	Experiments	Reference
MIRT003173	hsa-miR-210-3p	immunoprecipitaionMicroarrayqRT-PCR	19826008
MIRT021727	hsa-miR-132-3p	Microarray	17612493
MIRT021952	hsa-miR-128-3p	Microarray	17612493
MIRT025085	hsa-miR-181a-5p	Microarray	17612493
MIRT050718	hsa-miR-18a-5p	CLASH	23622248
MIRT049938	hsa-miR-30a-5p	CLASH	23622248
MIRT048562	hsa-miR-100-5p	CLASH	23622248
MIRT047549	hsa-miR-10a-5p	CLASH	23622248
MIRT047425	hsa-miR-10b-5p	CLASH	23622248
MIRT046851	hsa-miR-221-3p	CLASH	23622248
MIRT045406	hsa-miR-149-5p	CLASH	23622248
MIRT039446	hsa-miR-421	CLASH	23622248
MIRT037356	hsa-miR-877-5p	CLASH	23622248
MIRT615841	hsa-miR-3184-3p	HITS-CLIP	23824327
MIRT615840	hsa-miR-1264	HITS-CLIP	23824327
MIRT615839	hsa-miR-8485	HITS-CLIP	23824327
MIRT615838	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT615837	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT615836	hsa-miR-603	HITS-CLIP	23824327
MIRT148257	hsa-miR-6768-5p	HITS-CLIP	23824327
MIRT615834	hsa-miR-3941	HITS-CLIP	23824327
MIRT615833	hsa-miR-4789-5p	HITS-CLIP	23824327
MIRT653359	hsa-miR-203a-3p	HITS-CLIP	23824327
MIRT653358	hsa-miR-510-3p	HITS-CLIP	23824327
MIRT615841	hsa-miR-3184-3p	HITS-CLIP	23824327
MIRT615840	hsa-miR-1264	HITS-CLIP	23824327
MIRT615839	hsa-miR-8485	HITS-CLIP	23824327
MIRT148257	hsa-miR-6768-5p	HITS-CLIP	23824327
MIRT615841	hsa-miR-3184-3p	HITS-CLIP	23824327
MIRT615840	hsa-miR-1264	HITS-CLIP	23824327
MIRT615839	hsa-miR-8485	HITS-CLIP	23824327
MIRT615838	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT615837	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT615836	hsa-miR-603	HITS-CLIP	23824327
MIRT148257	hsa-miR-6768-5p	HITS-CLIP	23824327
MIRT615833	hsa-miR-4789-5p	HITS-CLIP	23824327
MIRT615841	hsa-miR-3184-3p	HITS-CLIP	23824327
MIRT615840	hsa-miR-1264	HITS-CLIP	23824327
MIRT615839	hsa-miR-8485	HITS-CLIP	23824327
MIRT615838	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT615837	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT615836	hsa-miR-603	HITS-CLIP	23824327
MIRT148257	hsa-miR-6768-5p	HITS-CLIP	23824327
MIRT615833	hsa-miR-4789-5p	HITS-CLIP	23824327
MIRT615832	hsa-miR-1277-5p	HITS-CLIP	23824327
MIRT615841	hsa-miR-3184-3p	HITS-CLIP	23824327
MIRT615840	hsa-miR-1264	HITS-CLIP	23824327
MIRT615839	hsa-miR-8485	HITS-CLIP	23824327
MIRT615838	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT615837	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT615836	hsa-miR-603	HITS-CLIP	23824327
MIRT148257	hsa-miR-6768-5p	HITS-CLIP	23824327
MIRT615835	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT615834	hsa-miR-3941	HITS-CLIP	23824327
MIRT615833	hsa-miR-4789-5p	HITS-CLIP	23824327
MIRT615832	hsa-miR-1277-5p	HITS-CLIP	23824327
MIRT439583	ebv-miR-BART10-3p	HITS-CLIP	22473208
MIRT439583	ebv-miR-BART10-3p	HITS-CLIP	22473208
MIRT615840	hsa-miR-1264	HITS-CLIP	27418678
MIRT615840	hsa-miR-1264	HITS-CLIP	27418678
MIRT615832	hsa-miR-1277-5p	HITS-CLIP	27418678
MIRT615841	hsa-miR-3184-3p	HITS-CLIP	27418678
MIRT615841	hsa-miR-3184-3p	HITS-CLIP	27418678
MIRT615838	hsa-miR-329-3p	HITS-CLIP	27418678
MIRT615838	hsa-miR-329-3p	HITS-CLIP	27418678
MIRT615837	hsa-miR-362-3p	HITS-CLIP	27418678
MIRT615837	hsa-miR-362-3p	HITS-CLIP	27418678
MIRT615834	hsa-miR-3941	HITS-CLIP	27418678
MIRT615833	hsa-miR-4789-5p	HITS-CLIP	27418678
MIRT615833	hsa-miR-4789-5p	HITS-CLIP	27418678
MIRT615835	hsa-miR-5011-5p	HITS-CLIP	27418678
MIRT615836	hsa-miR-603	HITS-CLIP	27418678
MIRT615836	hsa-miR-603	HITS-CLIP	27418678
MIRT148257	hsa-miR-6768-5p	HITS-CLIP	27418678
MIRT148257	hsa-miR-6768-5p	HITS-CLIP	27418678
MIRT615839	hsa-miR-8485	HITS-CLIP	27418678
MIRT615839	hsa-miR-8485	HITS-CLIP	27418678
MIRT615841	hsa-miR-3184-3p	HITS-CLIP	23824327
MIRT615840	hsa-miR-1264	HITS-CLIP	23824327
MIRT615839	hsa-miR-8485	HITS-CLIP	23824327
MIRT615838	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT615837	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT615836	hsa-miR-603	HITS-CLIP	23824327
MIRT148257	hsa-miR-6768-5p	HITS-CLIP	23824327
MIRT615834	hsa-miR-3941	HITS-CLIP	23824327
MIRT615833	hsa-miR-4789-5p	HITS-CLIP	23824327
MIRT653359	hsa-miR-203a-3p	HITS-CLIP	23824327
MIRT653358	hsa-miR-510-3p	HITS-CLIP	23824327
MIRT615841	hsa-miR-3184-3p	HITS-CLIP	23824327
MIRT615840	hsa-miR-1264	HITS-CLIP	23824327
MIRT615839	hsa-miR-8485	HITS-CLIP	23824327
MIRT148257	hsa-miR-6768-5p	HITS-CLIP	23824327
MIRT615841	hsa-miR-3184-3p	HITS-CLIP	23824327
MIRT615840	hsa-miR-1264	HITS-CLIP	23824327
MIRT615839	hsa-miR-8485	HITS-CLIP	23824327
MIRT615838	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT615837	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT615836	hsa-miR-603	HITS-CLIP	23824327
MIRT148257	hsa-miR-6768-5p	HITS-CLIP	23824327
MIRT615833	hsa-miR-4789-5p	HITS-CLIP	23824327
MIRT615841	hsa-miR-3184-3p	HITS-CLIP	23824327
MIRT615840	hsa-miR-1264	HITS-CLIP	23824327
MIRT615839	hsa-miR-8485	HITS-CLIP	23824327
MIRT615838	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT615837	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT615836	hsa-miR-603	HITS-CLIP	23824327
MIRT148257	hsa-miR-6768-5p	HITS-CLIP	23824327
MIRT615833	hsa-miR-4789-5p	HITS-CLIP	23824327
MIRT615832	hsa-miR-1277-5p	HITS-CLIP	23824327
MIRT615841	hsa-miR-3184-3p	HITS-CLIP	23824327
MIRT615840	hsa-miR-1264	HITS-CLIP	23824327
MIRT615839	hsa-miR-8485	HITS-CLIP	23824327
MIRT615838	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT615837	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT615836	hsa-miR-603	HITS-CLIP	23824327
MIRT148257	hsa-miR-6768-5p	HITS-CLIP	23824327
MIRT615835	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT615834	hsa-miR-3941	HITS-CLIP	23824327
MIRT615833	hsa-miR-4789-5p	HITS-CLIP	23824327
MIRT615832	hsa-miR-1277-5p	HITS-CLIP	23824327
MIRT1372545	hsa-miR-1238	CLIP-seq
MIRT1372546	hsa-miR-1285	CLIP-seq
MIRT1372547	hsa-miR-1302	CLIP-seq
MIRT1372548	hsa-miR-1343	CLIP-seq
MIRT1372549	hsa-miR-203	CLIP-seq
MIRT1372550	hsa-miR-3064-3p	CLIP-seq
MIRT1372551	hsa-miR-3074-5p	CLIP-seq
MIRT1372552	hsa-miR-3145-5p	CLIP-seq
MIRT1372553	hsa-miR-3187-5p	CLIP-seq
MIRT1372554	hsa-miR-4266	CLIP-seq
MIRT1372555	hsa-miR-4293	CLIP-seq
MIRT1372556	hsa-miR-4298	CLIP-seq
MIRT1372557	hsa-miR-4433	CLIP-seq
MIRT1372558	hsa-miR-4457	CLIP-seq
MIRT1372559	hsa-miR-4521	CLIP-seq
MIRT1372560	hsa-miR-4643	CLIP-seq
MIRT1372561	hsa-miR-466	CLIP-seq
MIRT1372562	hsa-miR-4672	CLIP-seq
MIRT1372563	hsa-miR-4695-5p	CLIP-seq
MIRT1372564	hsa-miR-4779	CLIP-seq
MIRT1372565	hsa-miR-4789-3p	CLIP-seq
MIRT1372566	hsa-miR-513b	CLIP-seq
MIRT1372567	hsa-miR-548c-3p	CLIP-seq
MIRT1372568	hsa-miR-596	CLIP-seq
MIRT1372569	hsa-miR-600	CLIP-seq
MIRT1372570	hsa-miR-612	CLIP-seq
MIRT1372571	hsa-miR-661	CLIP-seq
MIRT1372572	hsa-miR-665	CLIP-seq
MIRT1372545	hsa-miR-1238	CLIP-seq
MIRT2110665	hsa-miR-127-5p	CLIP-seq
MIRT1372547	hsa-miR-1302	CLIP-seq
MIRT1372548	hsa-miR-1343	CLIP-seq
MIRT2110666	hsa-miR-145	CLIP-seq
MIRT2110667	hsa-miR-2355-5p	CLIP-seq
MIRT2110668	hsa-miR-297	CLIP-seq
MIRT1372550	hsa-miR-3064-3p	CLIP-seq
MIRT1372551	hsa-miR-3074-5p	CLIP-seq
MIRT2110669	hsa-miR-3143	CLIP-seq
MIRT2110670	hsa-miR-3163	CLIP-seq
MIRT2110671	hsa-miR-3682-5p	CLIP-seq
MIRT2110672	hsa-miR-3925-3p	CLIP-seq
MIRT2110673	hsa-miR-4264	CLIP-seq
MIRT2110674	hsa-miR-4273	CLIP-seq
MIRT2110675	hsa-miR-4282	CLIP-seq
MIRT1372556	hsa-miR-4298	CLIP-seq
MIRT2110676	hsa-miR-4427	CLIP-seq
MIRT2110677	hsa-miR-450b-5p	CLIP-seq
MIRT1372560	hsa-miR-4643	CLIP-seq
MIRT1372561	hsa-miR-466	CLIP-seq
MIRT1372562	hsa-miR-4672	CLIP-seq
MIRT2110678	hsa-miR-4677-5p	CLIP-seq
MIRT2110679	hsa-miR-4680-3p	CLIP-seq
MIRT2110680	hsa-miR-4698	CLIP-seq
MIRT2110681	hsa-miR-4704-3p	CLIP-seq
MIRT2110682	hsa-miR-4731-3p	CLIP-seq
MIRT1372565	hsa-miR-4789-3p	CLIP-seq
MIRT2110683	hsa-miR-4801	CLIP-seq
MIRT2110684	hsa-miR-494	CLIP-seq
MIRT2110685	hsa-miR-510	CLIP-seq
MIRT2110686	hsa-miR-512-5p	CLIP-seq
MIRT2110687	hsa-miR-515-5p	CLIP-seq
MIRT2110688	hsa-miR-543	CLIP-seq
MIRT2110689	hsa-miR-567	CLIP-seq
MIRT2110690	hsa-miR-576-5p	CLIP-seq
MIRT2110691	hsa-miR-582-5p	CLIP-seq
MIRT1372569	hsa-miR-600	CLIP-seq
MIRT2110692	hsa-miR-622	CLIP-seq
MIRT2110693	hsa-miR-766	CLIP-seq
MIRT2110694	hsa-miR-935	CLIP-seq
MIRT2334085	hsa-miR-105	CLIP-seq
MIRT2334086	hsa-miR-1200	CLIP-seq
MIRT1372545	hsa-miR-1238	CLIP-seq
MIRT2334087	hsa-miR-1270	CLIP-seq
MIRT2334088	hsa-miR-185	CLIP-seq
MIRT2334089	hsa-miR-194	CLIP-seq
MIRT2334090	hsa-miR-196a	CLIP-seq
MIRT2334091	hsa-miR-196b	CLIP-seq
MIRT2334092	hsa-miR-219-5p	CLIP-seq
MIRT2334093	hsa-miR-224	CLIP-seq
MIRT2110667	hsa-miR-2355-5p	CLIP-seq
MIRT2334094	hsa-miR-298	CLIP-seq
MIRT1372550	hsa-miR-3064-3p	CLIP-seq
MIRT2334095	hsa-miR-3121-5p	CLIP-seq
MIRT2110669	hsa-miR-3143	CLIP-seq
MIRT1372552	hsa-miR-3145-5p	CLIP-seq
MIRT2334096	hsa-miR-3185	CLIP-seq
MIRT2334097	hsa-miR-3620	CLIP-seq
MIRT2334098	hsa-miR-3671	CLIP-seq
MIRT2334099	hsa-miR-3945	CLIP-seq
MIRT2334100	hsa-miR-409-3p	CLIP-seq
MIRT2110673	hsa-miR-4264	CLIP-seq
MIRT2110674	hsa-miR-4273	CLIP-seq
MIRT2334101	hsa-miR-4289	CLIP-seq
MIRT2334102	hsa-miR-4306	CLIP-seq
MIRT2334103	hsa-miR-4314	CLIP-seq
MIRT2334104	hsa-miR-432	CLIP-seq
MIRT2334105	hsa-miR-4445	CLIP-seq
MIRT1372558	hsa-miR-4457	CLIP-seq
MIRT2334106	hsa-miR-4477a	CLIP-seq
MIRT2334107	hsa-miR-448	CLIP-seq
MIRT2334108	hsa-miR-4490	CLIP-seq
MIRT2334109	hsa-miR-4504	CLIP-seq
MIRT2110677	hsa-miR-450b-5p	CLIP-seq
MIRT1372559	hsa-miR-4521	CLIP-seq
MIRT2334110	hsa-miR-4531	CLIP-seq
MIRT1372560	hsa-miR-4643	CLIP-seq
MIRT2334111	hsa-miR-4644	CLIP-seq
MIRT2334112	hsa-miR-4646-3p	CLIP-seq
MIRT1372561	hsa-miR-466	CLIP-seq
MIRT1372562	hsa-miR-4672	CLIP-seq
MIRT2110678	hsa-miR-4677-5p	CLIP-seq
MIRT2334113	hsa-miR-4708-3p	CLIP-seq
MIRT2334114	hsa-miR-4708-5p	CLIP-seq
MIRT2334115	hsa-miR-4756-3p	CLIP-seq
MIRT2334116	hsa-miR-4761-3p	CLIP-seq
MIRT2334117	hsa-miR-4774-5p	CLIP-seq
MIRT2334118	hsa-miR-4782-3p	CLIP-seq
MIRT1372565	hsa-miR-4789-3p	CLIP-seq
MIRT2110684	hsa-miR-494	CLIP-seq
MIRT2334119	hsa-miR-508-3p	CLIP-seq
MIRT2110685	hsa-miR-510	CLIP-seq
MIRT2110686	hsa-miR-512-5p	CLIP-seq
MIRT2334120	hsa-miR-513a-3p	CLIP-seq
MIRT1372566	hsa-miR-513b	CLIP-seq
MIRT2334121	hsa-miR-542-3p	CLIP-seq
MIRT2110688	hsa-miR-543	CLIP-seq
MIRT2334122	hsa-miR-548ae	CLIP-seq
MIRT2334123	hsa-miR-548aj	CLIP-seq
MIRT2334124	hsa-miR-548am	CLIP-seq
MIRT2334125	hsa-miR-548x	CLIP-seq
MIRT2334126	hsa-miR-549	CLIP-seq
MIRT1372569	hsa-miR-600	CLIP-seq
MIRT2334127	hsa-miR-607	CLIP-seq
MIRT2334128	hsa-miR-620	CLIP-seq
MIRT2110692	hsa-miR-622	CLIP-seq
MIRT2334129	hsa-miR-654-3p	CLIP-seq
MIRT2334130	hsa-miR-7	CLIP-seq
MIRT2334131	hsa-miR-758	CLIP-seq
MIRT1372547	hsa-miR-1302	CLIP-seq
MIRT1372548	hsa-miR-1343	CLIP-seq
MIRT1372551	hsa-miR-3074-5p	CLIP-seq
MIRT1372556	hsa-miR-4298	CLIP-seq
MIRT1372565	hsa-miR-4789-3p	CLIP-seq
MIRT2394861	hsa-miR-548ac	CLIP-seq
MIRT2334122	hsa-miR-548ae	CLIP-seq
MIRT2334123	hsa-miR-548aj	CLIP-seq
MIRT2334124	hsa-miR-548am	CLIP-seq
MIRT2394862	hsa-miR-548d-3p	CLIP-seq
MIRT2334125	hsa-miR-548x	CLIP-seq
MIRT2394863	hsa-miR-548z	CLIP-seq
MIRT1372545	hsa-miR-1238	CLIP-seq
MIRT1372561	hsa-miR-466	CLIP-seq
MIRT1372562	hsa-miR-4672	CLIP-seq
MIRT1372545	hsa-miR-1238	CLIP-seq
MIRT2334090	hsa-miR-196a	CLIP-seq
MIRT2334091	hsa-miR-196b	CLIP-seq
MIRT2334094	hsa-miR-298	CLIP-seq
MIRT1372550	hsa-miR-3064-3p	CLIP-seq
MIRT2440572	hsa-miR-323-3p	CLIP-seq
MIRT2440573	hsa-miR-3617	CLIP-seq
MIRT2334100	hsa-miR-409-3p	CLIP-seq
MIRT2440574	hsa-miR-425	CLIP-seq
MIRT1372558	hsa-miR-4457	CLIP-seq
MIRT2110677	hsa-miR-450b-5p	CLIP-seq
MIRT1372560	hsa-miR-4643	CLIP-seq
MIRT1372561	hsa-miR-466	CLIP-seq
MIRT1372562	hsa-miR-4672	CLIP-seq
MIRT2334113	hsa-miR-4708-3p	CLIP-seq
MIRT2334114	hsa-miR-4708-5p	CLIP-seq
MIRT2110682	hsa-miR-4731-3p	CLIP-seq
MIRT2334115	hsa-miR-4756-3p	CLIP-seq
MIRT2334116	hsa-miR-4761-3p	CLIP-seq
MIRT1372565	hsa-miR-4789-3p	CLIP-seq
MIRT2110683	hsa-miR-4801	CLIP-seq
MIRT2110684	hsa-miR-494	CLIP-seq
MIRT1372566	hsa-miR-513b	CLIP-seq
MIRT1372569	hsa-miR-600	CLIP-seq
MIRT2440575	hsa-miR-641	CLIP-seq
MIRT1372545	hsa-miR-1238	CLIP-seq
MIRT1372550	hsa-miR-3064-3p	CLIP-seq
MIRT2110677	hsa-miR-450b-5p	CLIP-seq
MIRT1372560	hsa-miR-4643	CLIP-seq
MIRT1372561	hsa-miR-466	CLIP-seq
MIRT1372562	hsa-miR-4672	CLIP-seq
MIRT1372565	hsa-miR-4789-3p	CLIP-seq
MIRT1372569	hsa-miR-600	CLIP-seq

Show/Hide all (27)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000781	Component	Chromosome, telomeric region	IDA	24270157
GO:0001740	Component	Barr body	IBA
GO:0001740	Component	Barr body	IDA	23542155
GO:0001740	Component	Barr body	IEA
GO:0003677	Function	DNA binding	IEA
GO:0005515	Function	Protein binding	IPI	23542155, 26496610
GO:0005524	Function	ATP binding	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005694	Component	Chromosome	IEA
GO:0006281	Process	DNA repair	IEA
GO:0006302	Process	Double-strand break repair	IEA
GO:0006325	Process	Chromatin organization	IEA
GO:0006974	Process	DNA damage response	IEA
GO:0009048	Process	Dosage compensation by inactivation of X chromosome	IDA	23542155
GO:0009048	Process	Dosage compensation by inactivation of X chromosome	IEA
GO:0016604	Component	Nuclear body	IDA
GO:0016787	Function	Hydrolase activity	IEA
GO:0016887	Function	ATP hydrolysis activity	IEA
GO:0016887	Function	ATP hydrolysis activity	ISS
GO:0035861	Component	Site of double-strand break	IDA	24790221, 25294876
GO:0042803	Function	Protein homodimerization activity	IEA
GO:0042803	Function	Protein homodimerization activity	ISS
GO:0043584	Process	Nose development	IMP	28067909, 28067911
GO:0045739	Process	Positive regulation of DNA repair	IMP	24790221
GO:0051276	Process	Chromosome organization	IEA
GO:2000042	Process	Negative regulation of double-strand break repair via homologous recombination	IMP	25294876
GO:2001034	Process	Positive regulation of double-strand break repair via nonhomologous end joining	IMP	25294876

MIM	HGNC	e!Ensembl
614982	29090	ENSG00000101596

A6NHR9

Protein name

Structural maintenance of chromosomes flexible hinge domain-containing protein 1 (SMC hinge domain-containing protein 1) (EC 3.6.1.-)

Protein function

Non-canonical member of the structural maintenance of chromosomes (SMC) protein family that plays a key role in epigenetic silencing by regulating chromatin architecture (By similarity). Promotes heterochromatin formation in both autosomes and c

PDB

6MW7

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF13589	HATPase_c_3	139 → 295		Domain
PF06470	SMC_hinge	1719 → 1847	SMC proteins Flexible Hinge Domain	Domain

Sequence

MAAADGGGPGGASVGTEEDGGGVGHRTVYLFDRREKESELGDRPLQVGERSDYAGFRACV
CQTLGISPEEKFVITTTSRKEITCDNFDETVKDGVTLYLLQSVNQLLLTATKERIDFLPH
YDTLVKSGMYEYYASEGQNPLPFALAELIDNSLSATSRNIGVRRIQIKLLFDETQGKPAV
AVIDNGRGMTSKQLNNWAVYRLSKFTRQGDFESDHSGYVRPVPVPRSLNSDISYFGVGGK
QAVFFVGQSARMISKPADSQDVHELVLSKEDFEKKEKNKEAIYSGYIRNRKPSDSVHITN
DDERFLHHLIIEEKEKDSFTAVVITGVQPEHIQYLKNYFHLWTRQLAHIYHYYIHGPKGN
EIRTSKEVEPFNNIDIEISMFEKGKVPKIVNLREIQDDMQTLYVNTAADSFEFKAHVEGD
GVVEGIIRYHPFLYDRETYPDDPCFPSKLKDEDDEDDCFILEKAARGKRPIFECFWNGRL
IPYTSVEDFDWCTPPKKRGLAPIECYNRISGALFTNDKFQVSTNKLTFMDLELKLKDKNT
LFTRILNGQEQRMKIDREFALWLKDCHEKYDKQIKFTLFKGVITRPDLPSKKQGPWATYA
AIEWDGKIYKAGQLVKTIKTLPLFYGSIVRFFLYGDHDGEVYATGGEVQIAMEPQALYDE
VRTVPIAKLDRTVAEKAVKKYVEDEMARLPDRLSVTWPEGDELLPNEVRPAGTPIGALRI
EILNKKGEAMQKLPGTSHGGSKKLLVELKVILHSSSGNKEIISHISQHGGKWPYWFKKME
NIQKLGNYTLKLQVVLNESNADTYAGRPLPSKAIKFSVKEGKPEKFSFGLLDLPFRVGVP
FNIPLEFQDEFGHTSQLVTDIQPVLEASGLSLHYEEITKGPNCVIRGVTAKGPVNSCQGK
NYNLKVTLPGLKEDSQILKIRLLPGHPRRLKVKPDSEILVIENGTAFPFQVEVLDESDNI
TAQPKLIVHCKFSGAPNLPVYVVDCSSSGTSILTGSAIQVQNIKKDQTLKARIEIPSCKD
VAPVEKTIKLLPSSHVARLQIFSVEGQKAIQIKHQDEVNWIAGDIMHNLIFQMYDEGERE
INITSALAEKIKVNWTPEINKEHLLQGLLPDVQVPTSVKDMRYCQVSFQDDHVSLESAFT
VRPLPDEPKHLKCEMKGGKTVQMGQELQGEVVIIITDQYGNQIQAFSPSSLSSLSIAGVG
LDSSNLKTTFQENTQSISVRGIKFIPGPPGNKDLCFTWREFSDFIRVQLISGPPAKLLLI
DWPELKESIPVINGRDLQNPIIVQLCDQWDNPAPVQHVKISLTKASNLKLMPSNQQHKTD
EKGRANLGVFSVFAPRGEHTLQVKAIYNKSIIEGPIIKLMILPDPEKPVRLNVKYDKDAS
FLAGGLFTDFMISVISEDDSIIKNINPARISMKMWKLSTSGNRPPANAETFSCNKIKDND
KEDGCFYFRDKVIPNKVGTYCIQFGFMMDKTNILNSEQVIVEVLPNQPVKLVPKIKPPTP
AVSNVRSVASRTLVRDLHLSITDDYDNHTGIDLVGTIIATIKGSNEEDTDTPLFIGKVRT
LEFPFVNGSAEIMSLVLAESSPGRDSTEYFIVFEPRLPLLSRTLEPYILPFMFYNDVKKQ
QQMAALTKEKDQLSQSIVMYKSLFEASQQLLNEMKCQVEEARLKEAQLRNELKIHNIDIP
TTQQVPHIEALLKRKLSEQEELKKKPRRSCTLPNYTKGSGDVLGKIAHLAQIEDDRAAMV
ISWHLASDMDCVVTLTTDAARRIYDETQGRQQVLPLDSIYKKTLPDWKRSLPHFRNGKLY
FKPIGDPVFARDLLTFPDNVEHCETVFGMLLGDTIILDNLDAANHYRKEVVKITHCPTLL
TRDGDRIRSNGKFGGLQNKAPPMDKLRGMVFGAPVPKQCLILGEQIDLLQQYRSAVCKLD
SVNKDLNSQLEYLRTPDMRKKKQELDEHEKNLKLIEEKLGMTPIRKCNDSLRHSPKVETT
DCPVPPKRMRREATRQNRIITKTDV

Sequence length

2005

Interactions

View interactions

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)

Show/Hide Causal Diseases (14)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Abnormality of the musculature	Pathogenic	rs2143214372, rs2143367390	RCV001814500 RCV001814336	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Anosmia	Pathogenic	rs1057519642	RCV000497004	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Arrhinia with choanal atresia and microphthalmia syndrome	Pathogenic; Likely pathogenic	rs1057519640, rs1057519641, rs1057519642, rs1057519644, rs1057519645, rs1057519646, rs1135402737, rs1135402738, rs1135402739, rs1135402741, rs1135402742, rs1135402743, rs1135402744, rs1135402745	RCV000417236 RCV000417278 RCV000417324 RCV000417296 RCV000417256 View all (11 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cervical cancer	Likely pathogenic; Pathogenic	rs1555625396	RCV005898655	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
	Likely pathogenic; Pathogenic	rs1555625396	RCV004813121	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Facioscapulohumeral muscular dystrophy 2	Pathogenic; Likely pathogenic	rs2143805963, rs2143233837, rs2143570702, rs2143530610, rs2143241656, rs867694014, rs2143801614, rs2143155004, rs2143255337, rs924153704, rs2143184995, rs2075161459, rs2143438994, rs2143182200, rs2510034129 View all (40 more)	RCV001385548 RCV001381052 RCV001387430 RCV001542794 RCV001730113 View all (51 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Male infertility with azoospermia or oligozoospermia due to single gene mutation	Likely pathogenic; Pathogenic	rs201632358	RCV003991628	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Malignant lymphoma, large B-cell, diffuse	Likely pathogenic; Pathogenic	rs2075161459	RCV005868489	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Muscle weakness	Pathogenic	rs2143801614	RCV001837556	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Muscular atrophy	Pathogenic	rs2075396572	RCV001281576	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Proximal upper limb muscle weakness	Pathogenic	rs2143632512	RCV001619780	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Scapulohumeral muscular dystrophy	Likely pathogenic; Pathogenic	rs886044914, rs1204021010, rs1598426626, rs867104086, rs1329504858	RCV000361350 RCV000515687 RCV000788992 RCV000850317 RCV000850313	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Short nose	Pathogenic	rs1057519642	RCV000497016	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
SMCHD1-related disorder	Likely pathogenic; Pathogenic	rs1248130436, rs2510061846, rs1057519646	RCV003416722 RCV003899538 RCV003932541	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (36)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Acute myeloid leukemia	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARHINIA, CHOANAL ATRESIA, AND MICROPHTHALMIA	—	CTD, ClinGen, Disgenet CTD, ClinGen, Disgenet CTD, ClinGen, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BOSMA ARHINIA MICROPHTHALMIA SYNDROME	—	HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHEDIAK-HIGASHI SYNDROME	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONOTRUNCAL HEART MALFORMATIONS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CROHN'S DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cryptorchidism	Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
FACIAL PARESIS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FACIOSCAPULOHUMERAL DYSTROPHY	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1B	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 2, DIGENIC	—	HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioma susceptibility 1	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFLAMMATORY BOWEL DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microphallus	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Muscular dystrophy	Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
MYOPATHY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Scapular winging	Uncertain significance; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Shoulder girdle muscle weakness	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ULCERATIVE COLITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Weakness of facial musculature	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (65)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Anophthalmos	Syndromic microphthalmia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Arhinia choanal atresia and microphthalmia	Arhinia-choanal atresia-microphthalmia syndrome	Pubtator	28067909, 29980640, 30698748, 31243061, 31312724, 31941450, 32620854, 34109974, 35121673, 36800423, 36944600, 37334829	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Arhinia, choanal atresia, and microphthalmia	Arrhinia with choanal atresia and microphthalmia syndrome	BEFREE	28067909, 28067911, 29748383, 30698748, 31243061		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Arhinia, choanal atresia, and microphthalmia	Arrhinia with choanal atresia and microphthalmia syndrome	UNIPROT_DG	28067909, 28067911, 29748383		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Arhinia, choanal atresia, and microphthalmia	Arrhinia with choanal atresia and microphthalmia syndrome	CTD_human_DG	28067909, 28067911		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Arhinia, choanal atresia, and microphthalmia	Arrhinia with choanal atresia and microphthalmia syndrome	CLINVAR_DG	28067909		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Arhinia, choanal atresia, and microphthalmia	Arrhinia with choanal atresia and microphthalmia syndrome	GENOMICS_ENGLAND_DG	28067909		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Arrhinia	Arrhinia	BEFREE	28067909, 28222895, 29980640, 31420322		★★★★★ ★☆☆☆☆ Found in Text Mining only
Arrhinia	Arrhinia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Bone Diseases Developmental	Bone disease	Pubtator	31941450	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Bundle Branch Block	Bundle branch block	Pubtator	33567613	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Choanal Atresia	Choanal Atresia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Combined Pituitary Hormone Deficiency	Combined pituitary hormone deficiency	Pubtator	32620854	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital coloboma of iris	Congenital Coloboma Of Iris	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of penis	Congenital Hypoplasia Of Penis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital ocular coloboma (disorder)	Congenital ocular coloboma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Craniofacial Abnormalities	Craniofacial abnormalities	Pubtator	28067909	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	CLINVAR_DG	28067909		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Cryptorchidism	Cryptorchidism	HPO_DG			★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Developmental Disabilities	Development Disorder	BEFREE	30698748		★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	30698748	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	BEFREE	29980640		★★★★★ ★☆☆☆☆ Found in Text Mining only
Facioscapulohumeral dystrophy	Facioscapulohumeral Dystrophy	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Facioscapulohumeral muscular dystrophy 1a	Facioscapulohumeral muscular dystrophy	Pubtator	24075187, 24755953, 25370034, 29980640, 30071896, 31243061, 37334829	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Facioscapulohumeral muscular dystrophy 1a	Facioscapulohumeral Muscular Dystrophy	BEFREE	24755953, 29281018		★★★★★ ★☆☆☆☆ Found in Text Mining only
FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1B	FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY	UNIPROT_DG	23143600, 24075187, 24128691, 25256356, 25370034, 27059856, 28067911, 29748383		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1B	FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY	CLINVAR_DG	23143600, 28067909		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1B	FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY	CTD_human_DG	23143600, 28067909, 28067911		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Facioscapulohumeral Muscular Dystrophy 1B	Facioscapulohumeral muscular dystrophy	Pubtator	23143600, 24075187, 24128691, 25370034, 25820463, 28067909, 29563141, 29980640, 31243061, 31312724, 31676591, 34880314, 35121673, 36800423, 37334829	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1B	FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY	BEFREE	24075187, 24128691, 24639337, 27061275, 30327220, 30979860		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1B	FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY	GENOMICS_ENGLAND_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gynecomastia	Gynecomastia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hematopoietic Neoplasms	Hematopoietic Neoplasms	BEFREE	23269277		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hemochromatosis	Hemochromatosis	Pubtator	32620854	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypogonadism	Hypogonadism	Pubtator	32620854	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypogonadism	Hypogonadism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoplasia of the olfactory bulb	Hypoplasia of the olfactory bulb	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome	Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	BEFREE	23269277		★★★★★ ★☆☆☆☆ Found in Text Mining only
Kallmann Syndrome	Kallmann syndrome	Pubtator	36944600	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	23269277		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	23269277		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microphthalmos	Microphthalmos	Pubtator	32620854, 37334829	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Microphthalmos	Microphthalmos	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy	Muscular dystrophy	BEFREE	24755953, 28067909, 28138148, 31668908		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Muscular Dystrophy Facioscapulohumeral	Facioscapulohumeral muscular dystrophy	Pubtator	23143600, 24128691, 25370034, 25782668, 25820463, 26446085, 27634379, 28587678, 28744936, 29563141, 29741619, 30698748, 30979860, 31316120, 31600781 View all (7 more)	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy, Facioscapulohumeral	Facioscapulohumeral Muscular Dystrophy	BEFREE	22522912, 23143600, 24128691, 24639337, 25370034, 25782668, 25820463, 26831754, 27634379, 27816329, 28067909, 28067911, 28587678, 29162933, 29478599 View all (15 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy, Facioscapulohumeral	Facioscapulohumeral Muscular Dystrophy	ORPHANET_DG	23143600, 24075187, 24128691		★★★★★ ★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy, Facioscapulohumeral	Facioscapulohumeral Muscular Dystrophy	GENOMICS_ENGLAND_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy, Scapulohumeral	Muscular dystrophy	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy, Scapulohumeral	Muscular dystrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	BEFREE	24755953		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neoplasms	Neoplasms	BEFREE	23269277		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	31941450	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuromuscular Diseases	Neuromuscular disease	Pubtator	33567613	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Penis agenesis	Penis Agenesis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Porokeratosis	Porokeratosis	Pubtator	23593459	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Primary physiologic amenorrhea	Physiologic Amenorrhea	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Skin Erosion	Skin Erosion	BEFREE	29887375		★★★★★ ★☆☆☆☆ Found in Text Mining only
Submucous cleft of hard palate	Submucosal cleft palate	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Turner Syndrome	Turner syndrome	Pubtator	30122583	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	33150179	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

SMCHD1 (structural maintenance of chromosomes flexible hinge domain containing 1)