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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Entrez ID	6473
Gene name	SHOX homeobox
Gene symbol	SHOX
Synonyms (NCBI Gene)	GCFXPHOGSHOX1SHOXYSS
Chromosome	X\|Y
Chromosome location	X;Y
Summary	This gene belongs to the paired homeobox family and is located in the pseudoautosomal region 1 (PAR1) of X and Y chromosomes. Defects in this gene are associated with idiopathic growth retardation and in the short stature phenotype of Turner syndrome pati

Show/Hide all (23)

SNP ID	Visualize variation	Clinical significance	Consequence
rs111549748	G>C	Conflicting-interpretations-of-pathogenicity	5 prime UTR variant
rs113313554	C>A,T	Conflicting-interpretations-of-pathogenicity	5 prime UTR variant
rs137852552	C>A,T	Pathogenic	Synonymous variant, coding sequence variant, stop gained
rs137852553	C>G,T	Pathogenic	Synonymous variant, coding sequence variant, stop gained
rs137852554	C>G	Pathogenic	Missense variant, coding sequence variant
rs137852555	G>T	Pathogenic	Missense variant, coding sequence variant
rs137852556	C>T	Pathogenic	Missense variant, coding sequence variant
rs137852557	C>T	Pathogenic	Missense variant, coding sequence variant
rs137852558	G>T	Pathogenic	Coding sequence variant, stop gained
rs137852559	T>C	Pathogenic	Terminator codon variant, intron variant, stop lost
rs193922466	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs397514461	G>C	Pathogenic	Missense variant, coding sequence variant
rs397514462	C>A	Pathogenic	Missense variant, coding sequence variant
rs576542942	G>A	Conflicting-interpretations-of-pathogenicity	Intron variant, coding sequence variant, synonymous variant
rs750638027	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs757845999	C>-,CC	Pathogenic	Intron variant, coding sequence variant, frameshift variant
rs778921118	G>C,T	Uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs886043634	G>A,T	Pathogenic	Missense variant, coding sequence variant
rs1057518701	G>A	Pathogenic	Splice donor variant
rs1159449478	G>A,C	Likely-pathogenic	Missense variant, coding sequence variant
rs1556450972	->GTT	Pathogenic	5 prime UTR variant
rs1556468777	TAC>AG	Pathogenic	Frameshift variant, coding sequence variant, intron variant
rs1569493663	AG>-,AGAG	Pathogenic	Frameshift variant, coding sequence variant

353

Show/Hide all (353)

miRTarBase ID	miRNA	Experiments	Reference
MIRT666377	hsa-miR-6808-5p	HITS-CLIP	23824327
MIRT666376	hsa-miR-6893-5p	HITS-CLIP	23824327
MIRT666375	hsa-miR-940	HITS-CLIP	23824327
MIRT666374	hsa-miR-3929	HITS-CLIP	23824327
MIRT666373	hsa-miR-4419b	HITS-CLIP	23824327
MIRT666372	hsa-miR-4478	HITS-CLIP	23824327
MIRT666371	hsa-miR-5588-3p	HITS-CLIP	23824327
MIRT666370	hsa-miR-5690	HITS-CLIP	23824327
MIRT666369	hsa-miR-6746-5p	HITS-CLIP	23824327
MIRT666368	hsa-miR-4649-3p	HITS-CLIP	23824327
MIRT666367	hsa-miR-1827	HITS-CLIP	23824327
MIRT666366	hsa-miR-485-5p	HITS-CLIP	23824327
MIRT666365	hsa-miR-6884-5p	HITS-CLIP	23824327
MIRT666364	hsa-miR-4722-5p	HITS-CLIP	23824327
MIRT666363	hsa-miR-7160-5p	HITS-CLIP	23824327
MIRT666362	hsa-miR-7977	HITS-CLIP	23824327
MIRT666361	hsa-miR-6771-5p	HITS-CLIP	23824327
MIRT666360	hsa-miR-665	HITS-CLIP	23824327
MIRT618618	hsa-miR-7109-3p	HITS-CLIP	23824327
MIRT618617	hsa-miR-6819-3p	HITS-CLIP	23824327
MIRT618616	hsa-miR-6877-3p	HITS-CLIP	23824327
MIRT618615	hsa-miR-3183	HITS-CLIP	23824327
MIRT618614	hsa-miR-4723-3p	HITS-CLIP	23824327
MIRT618613	hsa-miR-6769b-3p	HITS-CLIP	23824327
MIRT618612	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT618611	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT618610	hsa-miR-130b-5p	HITS-CLIP	23824327
MIRT618609	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT618608	hsa-miR-4753-3p	HITS-CLIP	23824327
MIRT618618	hsa-miR-7109-3p	HITS-CLIP	23824327
MIRT618617	hsa-miR-6819-3p	HITS-CLIP	23824327
MIRT618616	hsa-miR-6877-3p	HITS-CLIP	23824327
MIRT618615	hsa-miR-3183	HITS-CLIP	23824327
MIRT618614	hsa-miR-4723-3p	HITS-CLIP	23824327
MIRT618613	hsa-miR-6769b-3p	HITS-CLIP	23824327
MIRT618612	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT618611	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT618610	hsa-miR-130b-5p	HITS-CLIP	23824327
MIRT618609	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT618608	hsa-miR-4753-3p	HITS-CLIP	23824327
MIRT618618	hsa-miR-7109-3p	HITS-CLIP	23824327
MIRT618617	hsa-miR-6819-3p	HITS-CLIP	23824327
MIRT618616	hsa-miR-6877-3p	HITS-CLIP	23824327
MIRT618615	hsa-miR-3183	HITS-CLIP	23824327
MIRT618614	hsa-miR-4723-3p	HITS-CLIP	23824327
MIRT618613	hsa-miR-6769b-3p	HITS-CLIP	23824327
MIRT618612	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT618611	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT618610	hsa-miR-130b-5p	HITS-CLIP	23824327
MIRT618609	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT618608	hsa-miR-4753-3p	HITS-CLIP	23824327
MIRT618618	hsa-miR-7109-3p	HITS-CLIP	23824327
MIRT618617	hsa-miR-6819-3p	HITS-CLIP	23824327
MIRT618616	hsa-miR-6877-3p	HITS-CLIP	23824327
MIRT618615	hsa-miR-3183	HITS-CLIP	23824327
MIRT618614	hsa-miR-4723-3p	HITS-CLIP	23824327
MIRT618613	hsa-miR-6769b-3p	HITS-CLIP	23824327
MIRT618612	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT618611	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT618610	hsa-miR-130b-5p	HITS-CLIP	23824327
MIRT618609	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT618608	hsa-miR-4753-3p	HITS-CLIP	23824327
MIRT666377	hsa-miR-6808-5p	HITS-CLIP	23824327
MIRT666376	hsa-miR-6893-5p	HITS-CLIP	23824327
MIRT666375	hsa-miR-940	HITS-CLIP	23824327
MIRT666374	hsa-miR-3929	HITS-CLIP	23824327
MIRT666373	hsa-miR-4419b	HITS-CLIP	23824327
MIRT666372	hsa-miR-4478	HITS-CLIP	23824327
MIRT666371	hsa-miR-5588-3p	HITS-CLIP	23824327
MIRT666370	hsa-miR-5690	HITS-CLIP	23824327
MIRT666369	hsa-miR-6746-5p	HITS-CLIP	23824327
MIRT666368	hsa-miR-4649-3p	HITS-CLIP	23824327
MIRT666367	hsa-miR-1827	HITS-CLIP	23824327
MIRT666366	hsa-miR-485-5p	HITS-CLIP	23824327
MIRT666365	hsa-miR-6884-5p	HITS-CLIP	23824327
MIRT666364	hsa-miR-4722-5p	HITS-CLIP	23824327
MIRT666363	hsa-miR-7160-5p	HITS-CLIP	23824327
MIRT666362	hsa-miR-7977	HITS-CLIP	23824327
MIRT666361	hsa-miR-6771-5p	HITS-CLIP	23824327
MIRT666360	hsa-miR-665	HITS-CLIP	23824327
MIRT618618	hsa-miR-7109-3p	HITS-CLIP	23824327
MIRT618617	hsa-miR-6819-3p	HITS-CLIP	23824327
MIRT618616	hsa-miR-6877-3p	HITS-CLIP	23824327
MIRT618615	hsa-miR-3183	HITS-CLIP	23824327
MIRT618614	hsa-miR-4723-3p	HITS-CLIP	23824327
MIRT618613	hsa-miR-6769b-3p	HITS-CLIP	23824327
MIRT618612	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT618611	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT618610	hsa-miR-130b-5p	HITS-CLIP	23824327
MIRT618609	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT618608	hsa-miR-4753-3p	HITS-CLIP	23824327
MIRT618618	hsa-miR-7109-3p	HITS-CLIP	23824327
MIRT618617	hsa-miR-6819-3p	HITS-CLIP	23824327
MIRT618616	hsa-miR-6877-3p	HITS-CLIP	23824327
MIRT618615	hsa-miR-3183	HITS-CLIP	23824327
MIRT618614	hsa-miR-4723-3p	HITS-CLIP	23824327
MIRT618613	hsa-miR-6769b-3p	HITS-CLIP	23824327
MIRT618612	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT618611	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT618610	hsa-miR-130b-5p	HITS-CLIP	23824327
MIRT618609	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT618608	hsa-miR-4753-3p	HITS-CLIP	23824327
MIRT618618	hsa-miR-7109-3p	HITS-CLIP	23824327
MIRT618617	hsa-miR-6819-3p	HITS-CLIP	23824327
MIRT618616	hsa-miR-6877-3p	HITS-CLIP	23824327
MIRT618615	hsa-miR-3183	HITS-CLIP	23824327
MIRT618614	hsa-miR-4723-3p	HITS-CLIP	23824327
MIRT618613	hsa-miR-6769b-3p	HITS-CLIP	23824327
MIRT618612	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT618611	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT618610	hsa-miR-130b-5p	HITS-CLIP	23824327
MIRT618609	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT618608	hsa-miR-4753-3p	HITS-CLIP	23824327
MIRT618618	hsa-miR-7109-3p	HITS-CLIP	23824327
MIRT618617	hsa-miR-6819-3p	HITS-CLIP	23824327
MIRT618616	hsa-miR-6877-3p	HITS-CLIP	23824327
MIRT618615	hsa-miR-3183	HITS-CLIP	23824327
MIRT618614	hsa-miR-4723-3p	HITS-CLIP	23824327
MIRT618613	hsa-miR-6769b-3p	HITS-CLIP	23824327
MIRT618612	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT618611	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT618610	hsa-miR-130b-5p	HITS-CLIP	23824327
MIRT618609	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT618608	hsa-miR-4753-3p	HITS-CLIP	23824327
MIRT1347552	hsa-miR-1207-5p	CLIP-seq
MIRT1347553	hsa-miR-1293	CLIP-seq
MIRT1347554	hsa-miR-1908	CLIP-seq
MIRT1347555	hsa-miR-299-5p	CLIP-seq
MIRT1347556	hsa-miR-3665	CLIP-seq
MIRT1347557	hsa-miR-3937	CLIP-seq
MIRT1347558	hsa-miR-4483	CLIP-seq
MIRT1347559	hsa-miR-4651	CLIP-seq
MIRT1347560	hsa-miR-4736	CLIP-seq
MIRT1347561	hsa-miR-4755-3p	CLIP-seq
MIRT1347562	hsa-miR-4763-3p	CLIP-seq
MIRT1347563	hsa-miR-4787-5p	CLIP-seq
MIRT1347564	hsa-miR-608	CLIP-seq
MIRT1347565	hsa-miR-629	CLIP-seq
MIRT1347566	hsa-miR-663	CLIP-seq
MIRT1347567	hsa-miR-764	CLIP-seq
MIRT1347568	hsa-miR-1225-3p	CLIP-seq
MIRT1347569	hsa-miR-1233	CLIP-seq
MIRT1347570	hsa-miR-1273e	CLIP-seq
MIRT1347571	hsa-miR-1304	CLIP-seq
MIRT1347572	hsa-miR-141	CLIP-seq
MIRT1347573	hsa-miR-200a	CLIP-seq
MIRT1347574	hsa-miR-2054	CLIP-seq
MIRT1347575	hsa-miR-2114	CLIP-seq
MIRT1347576	hsa-miR-2467-5p	CLIP-seq
MIRT1347577	hsa-miR-3122	CLIP-seq
MIRT1347578	hsa-miR-3165	CLIP-seq
MIRT1347579	hsa-miR-3174	CLIP-seq
MIRT1347580	hsa-miR-3188	CLIP-seq
MIRT1347581	hsa-miR-323-5p	CLIP-seq
MIRT1347582	hsa-miR-3545-3p	CLIP-seq
MIRT1347583	hsa-miR-3622a-3p	CLIP-seq
MIRT1347584	hsa-miR-3622b-3p	CLIP-seq
MIRT1347585	hsa-miR-3656	CLIP-seq
MIRT1347586	hsa-miR-3664-3p	CLIP-seq
MIRT1347587	hsa-miR-3689a-3p	CLIP-seq
MIRT1347588	hsa-miR-3689c	CLIP-seq
MIRT1347589	hsa-miR-3689d	CLIP-seq
MIRT1347590	hsa-miR-3913-5p	CLIP-seq
MIRT1347591	hsa-miR-3926	CLIP-seq
MIRT1347592	hsa-miR-3975	CLIP-seq
MIRT1347593	hsa-miR-4433	CLIP-seq
MIRT1347594	hsa-miR-4459	CLIP-seq
MIRT1347595	hsa-miR-4680-5p	CLIP-seq
MIRT1347596	hsa-miR-4695-5p	CLIP-seq
MIRT1347597	hsa-miR-4728-5p	CLIP-seq
MIRT1347598	hsa-miR-4768-3p	CLIP-seq
MIRT1347599	hsa-miR-4786-5p	CLIP-seq
MIRT1347600	hsa-miR-510	CLIP-seq
MIRT1347601	hsa-miR-512-5p	CLIP-seq
MIRT1347602	hsa-miR-524-3p	CLIP-seq
MIRT1347603	hsa-miR-525-3p	CLIP-seq
MIRT1347604	hsa-miR-541	CLIP-seq
MIRT1347605	hsa-miR-544b	CLIP-seq
MIRT1347606	hsa-miR-548s	CLIP-seq
MIRT1347607	hsa-miR-550a	CLIP-seq
MIRT1347608	hsa-miR-610	CLIP-seq
MIRT1347609	hsa-miR-654-5p	CLIP-seq
MIRT1347610	hsa-miR-658	CLIP-seq
MIRT1347611	hsa-miR-876-3p	CLIP-seq
MIRT1347593	hsa-miR-4433	CLIP-seq
MIRT1922374	hsa-miR-3613-3p	CLIP-seq
MIRT1347568	hsa-miR-1225-3p	CLIP-seq
MIRT1347569	hsa-miR-1233	CLIP-seq
MIRT1347570	hsa-miR-1273e	CLIP-seq
MIRT1347571	hsa-miR-1304	CLIP-seq
MIRT1347575	hsa-miR-2114	CLIP-seq
MIRT1347576	hsa-miR-2467-5p	CLIP-seq
MIRT1347578	hsa-miR-3165	CLIP-seq
MIRT1347579	hsa-miR-3174	CLIP-seq
MIRT1347580	hsa-miR-3188	CLIP-seq
MIRT1347582	hsa-miR-3545-3p	CLIP-seq
MIRT1347583	hsa-miR-3622a-3p	CLIP-seq
MIRT1347584	hsa-miR-3622b-3p	CLIP-seq
MIRT1347585	hsa-miR-3656	CLIP-seq
MIRT1347586	hsa-miR-3664-3p	CLIP-seq
MIRT1347587	hsa-miR-3689a-3p	CLIP-seq
MIRT1347588	hsa-miR-3689c	CLIP-seq
MIRT1347591	hsa-miR-3926	CLIP-seq
MIRT1347592	hsa-miR-3975	CLIP-seq
MIRT1347593	hsa-miR-4433	CLIP-seq
MIRT1347594	hsa-miR-4459	CLIP-seq
MIRT1347595	hsa-miR-4680-5p	CLIP-seq
MIRT1347596	hsa-miR-4695-5p	CLIP-seq
MIRT1347597	hsa-miR-4728-5p	CLIP-seq
MIRT1347598	hsa-miR-4768-3p	CLIP-seq
MIRT2102923	hsa-miR-4785	CLIP-seq
MIRT1347599	hsa-miR-4786-5p	CLIP-seq
MIRT1347600	hsa-miR-510	CLIP-seq
MIRT1347601	hsa-miR-512-5p	CLIP-seq
MIRT1347602	hsa-miR-524-3p	CLIP-seq
MIRT1347603	hsa-miR-525-3p	CLIP-seq
MIRT1347604	hsa-miR-541	CLIP-seq
MIRT1347605	hsa-miR-544b	CLIP-seq
MIRT1347606	hsa-miR-548s	CLIP-seq
MIRT1347607	hsa-miR-550a	CLIP-seq
MIRT1347608	hsa-miR-610	CLIP-seq
MIRT1347609	hsa-miR-654-5p	CLIP-seq
MIRT1347610	hsa-miR-658	CLIP-seq
MIRT1347568	hsa-miR-1225-3p	CLIP-seq
MIRT1347569	hsa-miR-1233	CLIP-seq
MIRT2327241	hsa-miR-1262	CLIP-seq
MIRT1347570	hsa-miR-1273e	CLIP-seq
MIRT1347571	hsa-miR-1304	CLIP-seq
MIRT2327242	hsa-miR-199a-5p	CLIP-seq
MIRT2327243	hsa-miR-199b-5p	CLIP-seq
MIRT1347575	hsa-miR-2114	CLIP-seq
MIRT1347576	hsa-miR-2467-5p	CLIP-seq
MIRT1347577	hsa-miR-3122	CLIP-seq
MIRT1347578	hsa-miR-3165	CLIP-seq
MIRT1347579	hsa-miR-3174	CLIP-seq
MIRT1347580	hsa-miR-3188	CLIP-seq
MIRT1347581	hsa-miR-323-5p	CLIP-seq
MIRT1347582	hsa-miR-3545-3p	CLIP-seq
MIRT1347583	hsa-miR-3622a-3p	CLIP-seq
MIRT1347584	hsa-miR-3622b-3p	CLIP-seq
MIRT1347585	hsa-miR-3656	CLIP-seq
MIRT1347586	hsa-miR-3664-3p	CLIP-seq
MIRT1347587	hsa-miR-3689a-3p	CLIP-seq
MIRT1347588	hsa-miR-3689c	CLIP-seq
MIRT1347590	hsa-miR-3913-5p	CLIP-seq
MIRT1347592	hsa-miR-3975	CLIP-seq
MIRT2327244	hsa-miR-4302	CLIP-seq
MIRT1347593	hsa-miR-4433	CLIP-seq
MIRT1347594	hsa-miR-4459	CLIP-seq
MIRT1347595	hsa-miR-4680-5p	CLIP-seq
MIRT1347596	hsa-miR-4695-5p	CLIP-seq
MIRT2327245	hsa-miR-4701-3p	CLIP-seq
MIRT1347597	hsa-miR-4728-5p	CLIP-seq
MIRT1347598	hsa-miR-4768-3p	CLIP-seq
MIRT1347599	hsa-miR-4786-5p	CLIP-seq
MIRT1347600	hsa-miR-510	CLIP-seq
MIRT1347601	hsa-miR-512-5p	CLIP-seq
MIRT1347602	hsa-miR-524-3p	CLIP-seq
MIRT1347603	hsa-miR-525-3p	CLIP-seq
MIRT1347604	hsa-miR-541	CLIP-seq
MIRT2327246	hsa-miR-542-3p	CLIP-seq
MIRT1347605	hsa-miR-544b	CLIP-seq
MIRT1347607	hsa-miR-550a	CLIP-seq
MIRT1347608	hsa-miR-610	CLIP-seq
MIRT2327247	hsa-miR-648	CLIP-seq
MIRT1347609	hsa-miR-654-5p	CLIP-seq
MIRT1347610	hsa-miR-658	CLIP-seq
MIRT2327248	hsa-miR-661	CLIP-seq
MIRT2327249	hsa-miR-766	CLIP-seq
MIRT1347611	hsa-miR-876-3p	CLIP-seq
MIRT1347568	hsa-miR-1225-3p	CLIP-seq
MIRT1347569	hsa-miR-1233	CLIP-seq
MIRT2327241	hsa-miR-1262	CLIP-seq
MIRT1347570	hsa-miR-1273e	CLIP-seq
MIRT1347571	hsa-miR-1304	CLIP-seq
MIRT2327242	hsa-miR-199a-5p	CLIP-seq
MIRT2327243	hsa-miR-199b-5p	CLIP-seq
MIRT1347575	hsa-miR-2114	CLIP-seq
MIRT1347576	hsa-miR-2467-5p	CLIP-seq
MIRT1347579	hsa-miR-3174	CLIP-seq
MIRT1347580	hsa-miR-3188	CLIP-seq
MIRT1347582	hsa-miR-3545-3p	CLIP-seq
MIRT1347586	hsa-miR-3664-3p	CLIP-seq
MIRT1347587	hsa-miR-3689a-3p	CLIP-seq
MIRT1347588	hsa-miR-3689c	CLIP-seq
MIRT1347592	hsa-miR-3975	CLIP-seq
MIRT2327244	hsa-miR-4302	CLIP-seq
MIRT1347593	hsa-miR-4433	CLIP-seq
MIRT1347594	hsa-miR-4459	CLIP-seq
MIRT1347595	hsa-miR-4680-5p	CLIP-seq
MIRT1347596	hsa-miR-4695-5p	CLIP-seq
MIRT2327245	hsa-miR-4701-3p	CLIP-seq
MIRT1347597	hsa-miR-4728-5p	CLIP-seq
MIRT1347598	hsa-miR-4768-3p	CLIP-seq
MIRT2102923	hsa-miR-4785	CLIP-seq
MIRT1347600	hsa-miR-510	CLIP-seq
MIRT1347601	hsa-miR-512-5p	CLIP-seq
MIRT2327246	hsa-miR-542-3p	CLIP-seq
MIRT1347607	hsa-miR-550a	CLIP-seq
MIRT1347608	hsa-miR-610	CLIP-seq
MIRT2327247	hsa-miR-648	CLIP-seq
MIRT1347610	hsa-miR-658	CLIP-seq
MIRT2327248	hsa-miR-661	CLIP-seq
MIRT2327249	hsa-miR-766	CLIP-seq
MIRT2327241	hsa-miR-1262	CLIP-seq
MIRT2327242	hsa-miR-199a-5p	CLIP-seq
MIRT2327243	hsa-miR-199b-5p	CLIP-seq
MIRT2459328	hsa-miR-3647-3p	CLIP-seq
MIRT2459329	hsa-miR-3675-3p	CLIP-seq
MIRT2327244	hsa-miR-4302	CLIP-seq
MIRT2459330	hsa-miR-4684-5p	CLIP-seq
MIRT2327245	hsa-miR-4701-3p	CLIP-seq
MIRT2459331	hsa-miR-4724-5p	CLIP-seq
MIRT2327246	hsa-miR-542-3p	CLIP-seq
MIRT2327247	hsa-miR-648	CLIP-seq
MIRT2327248	hsa-miR-661	CLIP-seq
MIRT2327249	hsa-miR-766	CLIP-seq
MIRT2622553	hsa-miR-1254	CLIP-seq
MIRT2622554	hsa-miR-1273	CLIP-seq
MIRT2622555	hsa-miR-1273c	CLIP-seq
MIRT2622556	hsa-miR-137	CLIP-seq
MIRT2622557	hsa-miR-146a	CLIP-seq
MIRT2622558	hsa-miR-146b-5p	CLIP-seq
MIRT2622559	hsa-miR-3116	CLIP-seq
MIRT2622560	hsa-miR-3120-5p	CLIP-seq
MIRT2622561	hsa-miR-330-3p	CLIP-seq
MIRT1922374	hsa-miR-3613-3p	CLIP-seq
MIRT2622562	hsa-miR-371-5p	CLIP-seq
MIRT2622563	hsa-miR-371b-5p	CLIP-seq
MIRT2622564	hsa-miR-4486	CLIP-seq
MIRT2622565	hsa-miR-4649-5p	CLIP-seq
MIRT2459330	hsa-miR-4684-5p	CLIP-seq
MIRT2622566	hsa-miR-508-5p	CLIP-seq
MIRT2622567	hsa-miR-593	CLIP-seq
MIRT2327248	hsa-miR-661	CLIP-seq
MIRT2327249	hsa-miR-766	CLIP-seq
MIRT2622553	hsa-miR-1254	CLIP-seq
MIRT2622554	hsa-miR-1273	CLIP-seq
MIRT2622555	hsa-miR-1273c	CLIP-seq
MIRT2622556	hsa-miR-137	CLIP-seq
MIRT2622559	hsa-miR-3116	CLIP-seq
MIRT2622560	hsa-miR-3120-5p	CLIP-seq
MIRT2622561	hsa-miR-330-3p	CLIP-seq
MIRT1922374	hsa-miR-3613-3p	CLIP-seq
MIRT2622562	hsa-miR-371-5p	CLIP-seq
MIRT2622563	hsa-miR-371b-5p	CLIP-seq
MIRT2622564	hsa-miR-4486	CLIP-seq
MIRT2622565	hsa-miR-4649-5p	CLIP-seq
MIRT2459330	hsa-miR-4684-5p	CLIP-seq
MIRT2622566	hsa-miR-508-5p	CLIP-seq
MIRT2622567	hsa-miR-593	CLIP-seq
MIRT2327248	hsa-miR-661	CLIP-seq
MIRT2327249	hsa-miR-766	CLIP-seq

Show/Hide all (1)

Transcription factor	Regulation	Reference
HOXA9	Unknown	23028966

Show/Hide all (19)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000785	Component	Chromatin	ISA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IEA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IDA	11751690
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IMP	11751690
GO:0001501	Process	Skeletal system development	TAS	9590292
GO:0003677	Function	DNA binding	IEA
GO:0005515	Function	Protein binding	IPI	21262861, 32296183
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0043565	Function	Sequence-specific DNA binding	IDA	11751690
GO:0043565	Function	Sequence-specific DNA binding	IMP	11751690
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IMP	11751690
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IBA
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536

MIM	HGNC	e!Ensembl
312865	N/A	HGNC

O15266

Protein name

Short stature homeobox protein (Pseudoautosomal homeobox-containing osteogenic protein) (Short stature homeobox-containing protein)

Protein function

Controls fundamental aspects of growth and development.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00046	Homeodomain	118 → 174	Homeodomain	Domain
PF03826	OAR	271 → 288	OAR motif	Motif

Tissue specificity

TISSUE SPECIFICITY: SHOXA is expressed in skeletal muscle, placenta, pancreas, heart and bone marrow fibroblast and SHOXB is highly expressed in bone marrow fibroblast followed by kidney and skeletal muscle. SHOXB is not expressed in brain, kidney, liver

Sequence

MEELTAFVSKSFDQKSKDGNGGGGGGGGKKDSITYREVLESGLARSRELGTSDSSLQDIT
EGGGHCPVHLFKDHVDNDKEKLKEFGTARVAEGIYECKEKREDVKSEDEDGQTKLKQRRS
RTNFTLEQLNELERLFDETHYPDAFMREELSQRLGLSEARVQVWFQNRRAKCRKQENQMH
KGVILGTANHLDACRVAPYVNMGALRMPFQQVQAQLQLEGVAHAHPHLHPHLAAHAPYLM
FPPPPFGLPIASLAESASAAAVVAAAAKSNSKNSSIADLRLKARKHAEALGL

Sequence length

292

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 (6)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Connective tissue disorder	Likely pathogenic	rs2124165604	RCV002278796	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Langer mesomelic dysplasia syndrome	Likely pathogenic; Pathogenic	rs137852557, rs757845999, rs1569493663, rs2522102022, rs397514461	RCV000010555 RCV000010557 RCV000010558 RCV003985970 RCV000022888	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Leri-Weill dyschondrosteosis	Pathogenic; Likely pathogenic	rs746801054, rs2124154821, rs1425206026, rs757391565, rs765251991, rs2052925859, rs752208304, rs1569495224, rs2522102328, rs137852552, rs137852553, rs137852554, rs137852555, rs2522084197, rs137852556 View all (9 more)	RCV002246450 RCV001808132 RCV002246699 RCV002246700 RCV002246702 View all (19 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Nonpapillary renal cell carcinoma	Likely pathogenic	rs2522131120	RCV005933649	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
SHOX-related disorder	Pathogenic; Likely pathogenic	rs137852552, rs137852556, rs2522102405, rs2522102225	RCV004757100 RCV004757101 RCV003982614 RCV003893904	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
SHOX-related short stature	Pathogenic; Likely pathogenic	rs1556450972, rs137852552, rs778921118, rs1057518701, rs1159449478, rs201157428, rs2052635829, rs2052711401	RCV000190325 RCV000010547 RCV000256224 RCV000415164 RCV000786992 RCV001201340 RCV001290977 RCV001262830 View all (3 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (4)

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.
CONNECTIVE TISSUE DISEASES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (104)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Achondroplasia	Achondroplasia	BEFREE	12476453, 22946287		★★★★★ ★☆☆☆☆ Found in Text Mining only
Acquired cubitus valgus	Cubitus valgus	BEFREE	17182655		★★★★★ ★☆☆☆☆ Found in Text Mining only
Acquired cubitus valgus	Cubitus valgus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Aromatase deficiency	Aromatase Deficiency	BEFREE	10946905		★★★★★ ★☆☆☆☆ Found in Text Mining only
Becker Muscular Dystrophy	Becker Muscular Dystrophy	BEFREE	18059093		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone disease	Pubtator	30626445	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Brachydactyly	Brachydactyly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	BEFREE	11889216		★★★★★ ★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
CATSHL syndrome	Catshl syndrome	Pubtator	19016538	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
CATSHL syndrome	Catshl syndrome	Pubtator	20425825	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Chromosome 2q37 deletion syndrome	2q37 Deletion Syndrome	BEFREE	30933954		★★★★★ ★☆☆☆☆ Found in Text Mining only
Clinodactyly of the 5th finger	Camptodactyly of fingers	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Clubfoot	Clubfoot	Pubtator	32518174	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	23456391	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Abnormalities	Congenital abnormalities	Pubtator	16597678, 21252244, 25056248, 37806643	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Bone Marrow Failure Syndromes	Congenital bone marrow failure syndrome	Pubtator	15145945	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	11701728, 29019057		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of radius	Congenital Hypoplasia Of Radius	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	27601064		★★★★★ ★☆☆☆☆ Found in Text Mining only
Disorders of Sex Development	Disorders of sex development	Pubtator	24088663	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	BEFREE	21120598		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	BEFREE	10634394, 10749976, 10798359, 10842291, 11134233, 11260213, 11408757, 11546827, 11751690, 11807867, 11874178, 11889216, 11941480, 12402330, 12439897 View all (54 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism Pituitary	Pituitary dwarfism	Pubtator	30626445	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dyslipidemias	Dyslipidemias	Pubtator	32633455	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	BEFREE	17182655		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy Generalized	Generalized epilepsy	Pubtator	14636323	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Episodic Ataxia	Episodic ataxia	Pubtator	24398799	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal atresia with or without tracheoesophageal fistula	Tracheoesophageal fistula	BEFREE	24398799		★★★★★ ★☆☆☆☆ Found in Text Mining only
ESTROGEN RESISTANCE	Estrogen Resistance	BEFREE	10946905		★★★★★ ★☆☆☆☆ Found in Text Mining only
gaze palsy familial horizontal with progressive scoliosis	Horizontal gaze palsy with progressive scoliosis	Pubtator	19016538	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Gilles de la Tourette syndrome	Tourette Syndrome	BEFREE	11739418		★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	12439897		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gonadal Dysgenesis, 45,X	Gonadal Dysgenesis	BEFREE	9259282		★★★★★ ★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	11523902, 11546827, 15145945, 15931595, 16597678, 17182655, 19578035, 20538086, 21448463, 23208451, 23426818, 24398799, 27387244, 30626445, 31412912 View all (5 more)	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	19016538	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary Multiple Exostoses	Multiple congenital exostosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin disease	Pubtator	10521308	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	32633455	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertrophy	Hypertrophy	Pubtator	17182655	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypochondroplasia (disorder)	Hypochondroplasia	BEFREE	12476453, 22903874		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoplasia of lower limb	Hypoplasia Of Lower Limb	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypospadias	Hypospadias	Pubtator	28498391	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ichthyosis	Ichthyosis	Pubtator	14636323	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intervertebral Disc Degeneration	Intervertebral Disc Degeneration	BEFREE	24248941		★★★★★ ★☆☆☆☆ Found in Text Mining only
Irido-corneo-trabecular dysgenesis (disorder)	Anterior segment dysgenesis	BEFREE	17994562		★★★★★ ★☆☆☆☆ Found in Text Mining only
Isolated somatotropin deficiency	Isolated Somatotropin Deficiency	BEFREE	11889216		★★★★★ ★☆☆☆☆ Found in Text Mining only
Kallmann Syndrome	Kallmann Syndrome	BEFREE	11471178		★★★★★ ★☆☆☆☆ Found in Text Mining only
Langer mesomelic dysplasia	Langer Mesomelic Dysplasia Syndrome	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Langer Mesomelic Dysplasia Syndrome	Langer Mesomelic Dysplasia Syndrome	BEFREE	10878753, 12116253, 15173321, 15214013, 16007631, 16175500, 16537395, 17182655, 17394206, 17994562, 19724992, 19850687, 20683993, 21068148, 21712857 View all (7 more)		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Langer Mesomelic Dysplasia Syndrome	Langer Mesomelic Dysplasia Syndrome	UNIPROT_DG	11889214		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Langer Mesomelic Dysplasia Syndrome	Langer Mesomelic Dysplasia Syndrome	ORPHANET_DG	12116254		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Langer Mesomelic Dysplasia Syndrome	Langer Mesomelic Dysplasia Syndrome	GENOMICS_ENGLAND_DG	21712857		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Langer Mesomelic Dysplasia Syndrome	Langer Mesomelic Dysplasia Syndrome	CTD_human_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Langer Mesomelic Dysplasia Syndrome	Langer Mesomelic Dysplasia Syndrome	CLINVAR_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Leri-Weill dyschondrosteosis	Leri-Weill Dyschondrosteosis	BEFREE	10507731, 10549307, 10599728, 10626546, 10634394, 10749976, 10878753, 10905666, 11030412, 11408757, 11471178, 11503163, 11735031, 11739418, 11751690 View all (62 more)		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Leri-Weill dyschondrosteosis	Leri-Weill Dyschondrosteosis	UNIPROT_DG	11030412, 11403039		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
	Leri-Weill Dyschondrosteosis	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Leri-Weill dyschondrosteosis	Leri-Weill Dyschondrosteosis	GENOMICS_ENGLAND_DG	21712857		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Leri-Weill dyschondrosteosis	Leri-Weill Dyschondrosteosis	CTD_human_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Leri-Weill dyschondrosteosis	Leri-Weill Dyschondrosteosis	CLINVAR_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Lowry Wood syndrome	Lowry Wood Syndrome	BEFREE	10713888, 11751690, 14513876, 16319696, 22518848		★★★★★ ★☆☆☆☆ Found in Text Mining only
Madelung Deformity	Madelung deformity	BEFREE	10878753, 11134233, 11408757, 11523902, 11735031, 11739418, 11751690, 11874178, 11889216, 14513875, 15356038, 16597678, 17028440, 19724992, 21057181 View all (4 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Madelung Deformity	Madelung deformity	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Melanocytic nevus	Melanocytic nevus	BEFREE	11701728		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mesomelia	Mesomelia	BEFREE	14514349		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mesomelia	Mesomelia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Micromelia	Micromelia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Mucopolysaccharidosis IV	Mucopolysaccharidosis	BEFREE	21057181		★★★★★ ★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy	Muscular dystrophy	LHGDN	18059093		★★★★★ ★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy, Duchenne	Duchenne Muscular Dystrophy	BEFREE	11701728		★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-obstructive azoospermia	Non-obstructive azoospermia	BEFREE	29019057		★★★★★ ★☆☆☆☆ Found in Text Mining only
Noonan Syndrome	Noonan Syndrome	BEFREE	30294303		★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteochondrodysplasias	Osteochondrodysplasia	BEFREE	12035792, 17994562, 19188742, 21057181, 21147883, 21150837, 21262861, 23570464, 27861128		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	22791839, 24186869		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Failure, Premature	Ovarian Failure	BEFREE	11503163, 17981816		★★★★★ ★☆☆☆☆ Found in Text Mining only
Premature Menopause	Premature Menopause	BEFREE	11503163, 17981816		★★★★★ ★☆☆☆☆ Found in Text Mining only
Primary hypogonadism	Hypogonadism	BEFREE	23666967		★★★★★ ★☆☆☆☆ Found in Text Mining only
Rickets	Rickets	BEFREE	28448761		★★★★★ ★☆☆☆☆ Found in Text Mining only
Scoliosis	Scoliosis	Pubtator	19016538	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	BEFREE	19016538		★★★★★ ★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
SHORT STATURE, IDIOPATHIC, X-LINKED	SHORT STATURE, IDIOPATHIC, X-LINKED	BEFREE	28629824		★★★★★ ★☆☆☆☆ Found in Text Mining only
SHORT STATURE, IDIOPATHIC, X-LINKED	SHORT STATURE, IDIOPATHIC, X-LINKED	GENOMICS_ENGLAND_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
SHORT STATURE, IDIOPATHIC, X-LINKED	SHORT STATURE, IDIOPATHIC, X-LINKED	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
SHORT STATURE, IDIOPATHIC, X-LINKED	SHORT STATURE, IDIOPATHIC, X-LINKED	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
SHORT STATURE, IDIOPATHIC, X-LINKED	SHORT STATURE, IDIOPATHIC, X-LINKED	ORPHANET_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
SHORT syndrome	Short syndrome	Pubtator	21252244	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
SHOX-related short stature	SHOX-Related Short Stature	BEFREE	10749976		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
SHOX-related short stature	SHOX-Related Short Stature	Orphanet			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Skeletal dysplasia	Skeletal Dysplasia	BEFREE	12035792, 17994562, 19188742, 21147883, 21150837, 21262861, 23570464, 27861128		★★★★★ ★☆☆☆☆ Found in Text Mining only
Somatotropin deficiency	Somatotropin Deficiency	BEFREE	30626445		★★★★★ ★☆☆☆☆ Found in Text Mining only
Timothy syndrome	Timothy Syndrome	BEFREE	11739418		★★★★★ ★☆☆☆☆ Found in Text Mining only
Tricuspid Valve Stenosis	Tricuspid Valve Stenosis	BEFREE	11739418		★★★★★ ★☆☆☆☆ Found in Text Mining only
Triglyceride storage disease with ichthyosis	Triglyceride Storage Disease With Ichthyosis	BEFREE	11891678		★★★★★ ★☆☆☆☆ Found in Text Mining only
Tuberous Sclerosis	Tuberous Sclerosis	BEFREE	11739418		★★★★★ ★☆☆☆☆ Found in Text Mining only
Turner Syndrome	Turner Syndrome	BEFREE	10599728, 10634394, 10749976, 10878753, 11093045, 11134233, 11471178, 11503163, 11509862, 11523902, 11546827, 11701728, 11739418, 11751690, 11874178 View all (24 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Turner Syndrome	Turner syndrome	Pubtator	11523902, 11546827, 15931595, 17182655, 25217032, 30530863	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Turner Syndrome	Turner Syndrome	LHGDN	11874178, 15529627		★★★★★ ★☆☆☆☆ Found in Text Mining only
Turner Syndrome	Turner syndrome	Pubtator	19016538	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Urogenital Abnormalities	Urogenital abnormalities	Pubtator	30626445	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

SHOX (SHOX homeobox)