HOXA13 (homeobox A13)

Gene

• Entrez ID: 3209
• Gene name: Homeobox A13
• Gene symbol: HOXA13
• Synonyms (NCBI Gene): HOX1, HOX1J
• Chromosome: 7
• Chromosome location: 7p15.2
• Summary: In vertebrates, the genes encoding the class of transcription factors called homeobox genes are found in clusters named A, B, C, and D on four separate chromosomes. Expression of these proteins is spatially and temporally regulated during embryonic develo

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs104894019	C>T	Pathogenic	Coding sequence variant, stop gained
rs121912542	T>G	Pathogenic	Missense variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT021544	hsa-miR-142-3p	Microarray	17612493
MIRT024658	hsa-miR-215-5p	Microarray	19074876
MIRT026124	hsa-miR-192-5p	Microarray	19074876
MIRT046676	hsa-miR-222-3p	CLASH	23622248
MIRT045907	hsa-miR-125b-5p	CLASH	23622248
MIRT036765	hsa-miR-760	CLASH	23622248
MIRT497030	hsa-miR-551b-5p	HITS-CLIP	19536157
MIRT497029	hsa-miR-4252	HITS-CLIP	19536157
MIRT497028	hsa-miR-3611	HITS-CLIP	19536157
MIRT627053	hsa-miR-3675-3p	HITS-CLIP	23824327
MIRT627051	hsa-miR-5193	HITS-CLIP	23824327
MIRT627050	hsa-miR-660-3p	HITS-CLIP	23824327
MIRT627049	hsa-miR-6845-3p	HITS-CLIP	23824327
MIRT627048	hsa-miR-6515-3p	HITS-CLIP	23824327
MIRT627047	hsa-miR-1236-3p	HITS-CLIP	23824327
MIRT627044	hsa-miR-4691-5p	HITS-CLIP	23824327
MIRT627043	hsa-miR-6792-3p	HITS-CLIP	23824327
MIRT627042	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT627041	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT627038	hsa-miR-6809-3p	HITS-CLIP	23824327
MIRT627037	hsa-miR-4290	HITS-CLIP	23824327
MIRT627053	hsa-miR-3675-3p	HITS-CLIP	23824327
MIRT627052	hsa-miR-1-5p	HITS-CLIP	23824327
MIRT627051	hsa-miR-5193	HITS-CLIP	23824327
MIRT627050	hsa-miR-660-3p	HITS-CLIP	23824327
MIRT627049	hsa-miR-6845-3p	HITS-CLIP	23824327
MIRT627048	hsa-miR-6515-3p	HITS-CLIP	23824327
MIRT627047	hsa-miR-1236-3p	HITS-CLIP	23824327
MIRT627046	hsa-miR-485-3p	HITS-CLIP	23824327
MIRT627045	hsa-miR-539-3p	HITS-CLIP	23824327
MIRT627044	hsa-miR-4691-5p	HITS-CLIP	23824327
MIRT627043	hsa-miR-6792-3p	HITS-CLIP	23824327
MIRT627042	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT627041	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT627040	hsa-miR-4768-5p	HITS-CLIP	23824327
MIRT627039	hsa-miR-6833-3p	HITS-CLIP	23824327
MIRT627038	hsa-miR-6809-3p	HITS-CLIP	23824327
MIRT627037	hsa-miR-4290	HITS-CLIP	23824327
MIRT562174	hsa-miR-504-5p	PAR-CLIP	20371350
MIRT562173	hsa-miR-25-3p	PAR-CLIP	20371350
MIRT562172	hsa-miR-32-5p	PAR-CLIP	20371350
MIRT562171	hsa-miR-363-3p	PAR-CLIP	20371350
MIRT562170	hsa-miR-367-3p	PAR-CLIP	20371350
MIRT562169	hsa-miR-92a-3p	PAR-CLIP	20371350
MIRT562168	hsa-miR-92b-3p	PAR-CLIP	20371350
MIRT562166	hsa-miR-3620-3p	PAR-CLIP	20371350
MIRT562167	hsa-miR-4308	PAR-CLIP	20371350
MIRT562165	hsa-miR-4254	PAR-CLIP	20371350
MIRT562164	hsa-miR-8064	PAR-CLIP	20371350
MIRT562163	hsa-miR-6081	PAR-CLIP	20371350
MIRT557173	hsa-miR-34a-5p	PAR-CLIP	21572407
MIRT557172	hsa-miR-449b-5p	PAR-CLIP	21572407
MIRT557171	hsa-miR-449a	PAR-CLIP	21572407
MIRT557170	hsa-miR-34c-5p	PAR-CLIP	21572407
MIRT557169	hsa-miR-4311	PAR-CLIP	21572407
MIRT557168	hsa-miR-1276	PAR-CLIP	21572407
MIRT557167	hsa-miR-583	PAR-CLIP	21572407
MIRT557166	hsa-miR-548a-5p	PAR-CLIP	21572407
MIRT557165	hsa-miR-548ab	PAR-CLIP	21572407
MIRT557164	hsa-miR-548ad-5p	PAR-CLIP	21572407
MIRT557163	hsa-miR-548ae-5p	PAR-CLIP	21572407
MIRT557162	hsa-miR-548ak	PAR-CLIP	21572407
MIRT557161	hsa-miR-548am-5p	PAR-CLIP	21572407
MIRT557160	hsa-miR-548ap-5p	PAR-CLIP	21572407
MIRT557159	hsa-miR-548aq-5p	PAR-CLIP	21572407
MIRT557158	hsa-miR-548ar-5p	PAR-CLIP	21572407
MIRT557157	hsa-miR-548as-5p	PAR-CLIP	21572407
MIRT557156	hsa-miR-548au-5p	PAR-CLIP	21572407
MIRT557155	hsa-miR-548ay-5p	PAR-CLIP	21572407
MIRT557154	hsa-miR-548b-5p	PAR-CLIP	21572407
MIRT557153	hsa-miR-548bb-5p	PAR-CLIP	21572407
MIRT557152	hsa-miR-548c-5p	PAR-CLIP	21572407
MIRT557151	hsa-miR-548d-5p	PAR-CLIP	21572407
MIRT557150	hsa-miR-548h-5p	PAR-CLIP	21572407
MIRT557149	hsa-miR-548i	PAR-CLIP	21572407
MIRT557148	hsa-miR-548j-5p	PAR-CLIP	21572407
MIRT557147	hsa-miR-548o-5p	PAR-CLIP	21572407
MIRT557146	hsa-miR-548w	PAR-CLIP	21572407
MIRT557145	hsa-miR-548y	PAR-CLIP	21572407
MIRT557144	hsa-miR-559	PAR-CLIP	21572407
MIRT557143	hsa-miR-5197-5p	PAR-CLIP	21572407
MIRT557142	hsa-miR-4496	PAR-CLIP	21572407
MIRT557141	hsa-miR-5190	PAR-CLIP	21572407
MIRT557140	hsa-miR-3158-5p	PAR-CLIP	21572407
MIRT557139	hsa-miR-1184	PAR-CLIP	21572407
MIRT557138	hsa-miR-1205	PAR-CLIP	21572407
MIRT557137	hsa-miR-17-3p	PAR-CLIP	21572407
MIRT557136	hsa-miR-496	PAR-CLIP	21572407
MIRT557135	hsa-miR-5589-3p	PAR-CLIP	21572407
MIRT557134	hsa-miR-548au-3p	PAR-CLIP	21572407
MIRT557133	hsa-miR-889-3p	PAR-CLIP	21572407
MIRT557132	hsa-miR-4477a	PAR-CLIP	21572407
MIRT557131	hsa-miR-374b-3p	PAR-CLIP	21572407
MIRT557130	hsa-miR-544a	PAR-CLIP	21572407
MIRT557129	hsa-miR-6738-3p	PAR-CLIP	21572407
MIRT532501	hsa-miR-548c-3p	PAR-CLIP	22012620
MIRT532499	hsa-miR-4668-3p	PAR-CLIP	22012620
MIRT532500	hsa-miR-605-5p	PAR-CLIP	22012620
MIRT532498	hsa-miR-6732-3p	PAR-CLIP	22012620
MIRT532497	hsa-miR-3529-3p	PAR-CLIP	22012620
MIRT532496	hsa-miR-5003-5p	PAR-CLIP	22012620
MIRT532495	hsa-miR-4286	PAR-CLIP	22012620
MIRT532494	hsa-miR-637	PAR-CLIP	22012620
MIRT532493	hsa-miR-3148	PAR-CLIP	22012620
MIRT532492	hsa-miR-4668-5p	PAR-CLIP	22012620
MIRT532491	hsa-miR-625-5p	PAR-CLIP	22012620
MIRT532490	hsa-miR-6795-5p	PAR-CLIP	22012620
MIRT532489	hsa-miR-6887-5p	PAR-CLIP	22012620
MIRT532488	hsa-miR-328-5p	PAR-CLIP	22012620
MIRT532487	hsa-miR-6885-5p	PAR-CLIP	22012620
MIRT532486	hsa-miR-7109-5p	PAR-CLIP	22012620
MIRT532485	hsa-miR-4643	PAR-CLIP	22012620
MIRT532484	hsa-miR-217	PAR-CLIP	22012620
MIRT532483	hsa-miR-6807-3p	PAR-CLIP	22012620
MIRT532482	hsa-miR-451b	PAR-CLIP	22012620
MIRT532481	hsa-miR-3922-5p	PAR-CLIP	22012620
MIRT320503	hsa-miR-519d-5p	PAR-CLIP	22012620
MIRT532480	hsa-miR-412-3p	PAR-CLIP	22012620
MIRT532479	hsa-miR-6754-3p	PAR-CLIP	22012620
MIRT532478	hsa-miR-6837-3p	PAR-CLIP	22012620
MIRT532477	hsa-miR-4696	PAR-CLIP	22012620
MIRT532476	hsa-miR-6828-5p	PAR-CLIP	22012620
MIRT532475	hsa-miR-197-3p	PAR-CLIP	22012620
MIRT497030	hsa-miR-551b-5p	PAR-CLIP	22291592
MIRT497029	hsa-miR-4252	PAR-CLIP	22291592
MIRT497028	hsa-miR-3611	PAR-CLIP	22291592
MIRT737305	hsa-miR-766-3p	Luciferase reporter assay, Western blotting, Microarray, qRT-PCR	32589328
MIRT497030	hsa-miR-551b-5p	HITS-CLIP	19536157
MIRT497029	hsa-miR-4252	HITS-CLIP	19536157
MIRT497028	hsa-miR-3611	HITS-CLIP	19536157
MIRT627053	hsa-miR-3675-3p	HITS-CLIP	23824327
MIRT627051	hsa-miR-5193	HITS-CLIP	23824327
MIRT627050	hsa-miR-660-3p	HITS-CLIP	23824327
MIRT627049	hsa-miR-6845-3p	HITS-CLIP	23824327
MIRT627048	hsa-miR-6515-3p	HITS-CLIP	23824327
MIRT627047	hsa-miR-1236-3p	HITS-CLIP	23824327
MIRT627044	hsa-miR-4691-5p	HITS-CLIP	23824327
MIRT627043	hsa-miR-6792-3p	HITS-CLIP	23824327
MIRT627042	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT627041	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT627038	hsa-miR-6809-3p	HITS-CLIP	23824327
MIRT627037	hsa-miR-4290	HITS-CLIP	23824327
MIRT627053	hsa-miR-3675-3p	HITS-CLIP	23824327
MIRT627052	hsa-miR-1-5p	HITS-CLIP	23824327
MIRT627051	hsa-miR-5193	HITS-CLIP	23824327
MIRT627050	hsa-miR-660-3p	HITS-CLIP	23824327
MIRT627049	hsa-miR-6845-3p	HITS-CLIP	23824327
MIRT627048	hsa-miR-6515-3p	HITS-CLIP	23824327
MIRT627047	hsa-miR-1236-3p	HITS-CLIP	23824327
MIRT627046	hsa-miR-485-3p	HITS-CLIP	23824327
MIRT627045	hsa-miR-539-3p	HITS-CLIP	23824327
MIRT627044	hsa-miR-4691-5p	HITS-CLIP	23824327
MIRT627043	hsa-miR-6792-3p	HITS-CLIP	23824327
MIRT627042	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT627041	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT627040	hsa-miR-4768-5p	HITS-CLIP	23824327
MIRT627039	hsa-miR-6833-3p	HITS-CLIP	23824327
MIRT627038	hsa-miR-6809-3p	HITS-CLIP	23824327
MIRT627037	hsa-miR-4290	HITS-CLIP	23824327
MIRT562174	hsa-miR-504-5p	PAR-CLIP	20371350
MIRT562173	hsa-miR-25-3p	PAR-CLIP	20371350
MIRT562172	hsa-miR-32-5p	PAR-CLIP	20371350
MIRT562171	hsa-miR-363-3p	PAR-CLIP	20371350
MIRT562170	hsa-miR-367-3p	PAR-CLIP	20371350
MIRT562169	hsa-miR-92a-3p	PAR-CLIP	20371350
MIRT562168	hsa-miR-92b-3p	PAR-CLIP	20371350
MIRT562166	hsa-miR-3620-3p	PAR-CLIP	20371350
MIRT562167	hsa-miR-4308	PAR-CLIP	20371350
MIRT562165	hsa-miR-4254	PAR-CLIP	20371350
MIRT562164	hsa-miR-8064	PAR-CLIP	20371350
MIRT562163	hsa-miR-6081	PAR-CLIP	20371350
MIRT557173	hsa-miR-34a-5p	PAR-CLIP	21572407
MIRT557172	hsa-miR-449b-5p	PAR-CLIP	21572407
MIRT557171	hsa-miR-449a	PAR-CLIP	21572407
MIRT557170	hsa-miR-34c-5p	PAR-CLIP	21572407
MIRT557169	hsa-miR-4311	PAR-CLIP	21572407
MIRT557168	hsa-miR-1276	PAR-CLIP	21572407
MIRT557167	hsa-miR-583	PAR-CLIP	21572407
MIRT557166	hsa-miR-548a-5p	PAR-CLIP	21572407
MIRT557165	hsa-miR-548ab	PAR-CLIP	21572407
MIRT557164	hsa-miR-548ad-5p	PAR-CLIP	21572407
MIRT557163	hsa-miR-548ae-5p	PAR-CLIP	21572407
MIRT557162	hsa-miR-548ak	PAR-CLIP	21572407
MIRT557161	hsa-miR-548am-5p	PAR-CLIP	21572407
MIRT557160	hsa-miR-548ap-5p	PAR-CLIP	21572407
MIRT557159	hsa-miR-548aq-5p	PAR-CLIP	21572407
MIRT557158	hsa-miR-548ar-5p	PAR-CLIP	21572407
MIRT557157	hsa-miR-548as-5p	PAR-CLIP	21572407
MIRT557156	hsa-miR-548au-5p	PAR-CLIP	21572407
MIRT557155	hsa-miR-548ay-5p	PAR-CLIP	21572407
MIRT557154	hsa-miR-548b-5p	PAR-CLIP	21572407
MIRT557153	hsa-miR-548bb-5p	PAR-CLIP	21572407
MIRT557152	hsa-miR-548c-5p	PAR-CLIP	21572407
MIRT557151	hsa-miR-548d-5p	PAR-CLIP	21572407
MIRT557150	hsa-miR-548h-5p	PAR-CLIP	21572407
MIRT557149	hsa-miR-548i	PAR-CLIP	21572407
MIRT557148	hsa-miR-548j-5p	PAR-CLIP	21572407
MIRT557147	hsa-miR-548o-5p	PAR-CLIP	21572407
MIRT557146	hsa-miR-548w	PAR-CLIP	21572407
MIRT557145	hsa-miR-548y	PAR-CLIP	21572407
MIRT557144	hsa-miR-559	PAR-CLIP	21572407
MIRT557143	hsa-miR-5197-5p	PAR-CLIP	21572407
MIRT557142	hsa-miR-4496	PAR-CLIP	21572407
MIRT557141	hsa-miR-5190	PAR-CLIP	21572407
MIRT557140	hsa-miR-3158-5p	PAR-CLIP	21572407
MIRT557139	hsa-miR-1184	PAR-CLIP	21572407
MIRT557138	hsa-miR-1205	PAR-CLIP	21572407
MIRT557137	hsa-miR-17-3p	PAR-CLIP	21572407
MIRT557136	hsa-miR-496	PAR-CLIP	21572407
MIRT557135	hsa-miR-5589-3p	PAR-CLIP	21572407
MIRT557134	hsa-miR-548au-3p	PAR-CLIP	21572407
MIRT557133	hsa-miR-889-3p	PAR-CLIP	21572407
MIRT557132	hsa-miR-4477a	PAR-CLIP	21572407
MIRT557131	hsa-miR-374b-3p	PAR-CLIP	21572407
MIRT557130	hsa-miR-544a	PAR-CLIP	21572407
MIRT557129	hsa-miR-6738-3p	PAR-CLIP	21572407
MIRT532501	hsa-miR-548c-3p	PAR-CLIP	22012620
MIRT532499	hsa-miR-4668-3p	PAR-CLIP	22012620
MIRT532500	hsa-miR-605-5p	PAR-CLIP	22012620
MIRT532498	hsa-miR-6732-3p	PAR-CLIP	22012620
MIRT532497	hsa-miR-3529-3p	PAR-CLIP	22012620
MIRT532496	hsa-miR-5003-5p	PAR-CLIP	22012620
MIRT532495	hsa-miR-4286	PAR-CLIP	22012620
MIRT532494	hsa-miR-637	PAR-CLIP	22012620
MIRT532493	hsa-miR-3148	PAR-CLIP	22012620
MIRT532492	hsa-miR-4668-5p	PAR-CLIP	22012620
MIRT532491	hsa-miR-625-5p	PAR-CLIP	22012620
MIRT532490	hsa-miR-6795-5p	PAR-CLIP	22012620
MIRT532489	hsa-miR-6887-5p	PAR-CLIP	22012620
MIRT532488	hsa-miR-328-5p	PAR-CLIP	22012620
MIRT532487	hsa-miR-6885-5p	PAR-CLIP	22012620
MIRT532486	hsa-miR-7109-5p	PAR-CLIP	22012620
MIRT532485	hsa-miR-4643	PAR-CLIP	22012620
MIRT532484	hsa-miR-217	PAR-CLIP	22012620
MIRT532483	hsa-miR-6807-3p	PAR-CLIP	22012620
MIRT532482	hsa-miR-451b	PAR-CLIP	22012620
MIRT532481	hsa-miR-3922-5p	PAR-CLIP	22012620
MIRT320503	hsa-miR-519d-5p	PAR-CLIP	22012620
MIRT532480	hsa-miR-412-3p	PAR-CLIP	22012620
MIRT532479	hsa-miR-6754-3p	PAR-CLIP	22012620
MIRT532478	hsa-miR-6837-3p	PAR-CLIP	22012620
MIRT532477	hsa-miR-4696	PAR-CLIP	22012620
MIRT532476	hsa-miR-6828-5p	PAR-CLIP	22012620
MIRT532475	hsa-miR-197-3p	PAR-CLIP	22012620
MIRT497030	hsa-miR-551b-5p	PAR-CLIP	22291592
MIRT497029	hsa-miR-4252	PAR-CLIP	22291592
MIRT497028	hsa-miR-3611	PAR-CLIP	22291592
MIRT1053128	hsa-miR-1248	CLIP-seq
MIRT1053129	hsa-miR-34b	CLIP-seq
MIRT1053130	hsa-miR-4297	CLIP-seq
MIRT1053131	hsa-miR-4699-5p	CLIP-seq
MIRT2244359	hsa-miR-3121-5p	CLIP-seq
MIRT2244360	hsa-miR-3978	CLIP-seq
MIRT2244361	hsa-miR-500a	CLIP-seq
MIRT2244362	hsa-miR-501-5p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000785	Component	Chromatin	ISA
GO:0000976	Function	Transcription cis-regulatory region binding	IEA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA
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:0000987	Function	Cis-regulatory region sequence-specific DNA binding	IEA
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IEA
GO:0001501	Process	Skeletal system development	TAS	9020844
GO:0001570	Process	Vasculogenesis	IEA
GO:0001886	Process	Endothelial cell morphogenesis	IEA
GO:0001894	Process	Tissue homeostasis	IEA
GO:0003281	Process	Ventricular septum development	IEA
GO:0003677	Function	DNA binding	IEA
GO:0003677	Function	DNA binding	TAS	9020844
GO:0003700	Function	DNA-binding transcription factor activity	IEA
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005694	Component	Chromosome	IDA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0006366	Process	Transcription by RNA polymerase II	IEA
GO:0009653	Process	Anatomical structure morphogenesis	IEA
GO:0009887	Process	Animal organ morphogenesis	IEA
GO:0030510	Process	Regulation of BMP signaling pathway	IEA
GO:0030539	Process	Male genitalia development	IEA
GO:0030850	Process	Prostate gland development	IEA
GO:0033574	Process	Response to testosterone	IEA
GO:0035115	Process	Embryonic forelimb morphogenesis	IEA
GO:0043565	Function	Sequence-specific DNA binding	IDA	23332764
GO:0043565	Function	Sequence-specific DNA binding	IMP	23332764
GO:0045111	Component	Intermediate filament cytoskeleton	IDA
GO:0045840	Process	Positive regulation of mitotic nuclear division	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0048619	Process	Embryonic hindgut morphogenesis	IEA
GO:0048839	Process	Inner ear development	IEA
GO:0048844	Process	Artery morphogenesis	IEA
GO:0060442	Process	Branching involved in prostate gland morphogenesis	IEA
GO:0060847	Process	Endothelial cell fate specification	IEA
GO:0097152	Process	Mesenchymal cell apoptotic process	IEA
GO:0140014	Process	Mitotic nuclear division	IEA
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536
GO:2001055	Process	Positive regulation of mesenchymal cell apoptotic process	IEA

Other IDs

• MIM: 142959
• HGNC: 5102
• e!Ensembl: ENSG00000106031

Protein

• UniProt ID: P31271
• Protein name: Homeobox protein Hox-A13 (Homeobox protein Hox-1J)
• Protein function: Sequence-specific, AT-rich binding transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis.; Sequence-specific transcription factor
• PDB: 2L7Z
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF12284	HoxA13_N	138 → 224	Hox protein A13 N terminal	Family
  PF00046	Homeodomain	323 → 379	Homeodomain	Domain

• Sequence:

  MTASVLLHPRWIEPTVMFLYDNGGGLVADELNKNMEGAAAAAAAAAAAAAAGAGGGGFPH
  PAAAAAGGNFSVAAAAAAAAAAAANQCRNLMAHPAPLAPGAASAYSSAPGEAPPSAAAAA
  AAAAAAAAAAAAASSSGGPGPAGPAGAEAAKQCSPCSAAAQSSSGPAALPYGYFGSGYYP
  CARMGPHPNAIKSCAQPASAAAAAAFADKYMDTAGPAAEEFSSRAKEFAFYHQGYAAGPY
  HHHQPMPGYLDMPVVPGLGGPGESRHEPLGLPMESYQPWALPNGWNGQMYCPKEQAQPPH
  LWKSTLPDVVSHPSDASSYRRGRKKRVPYTKVQLKELEREYATNKFITKDKRRRISATTN
  LSERQVTIWFQNRRVKEKKVINKLKTTS

• Sequence length: 388

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
Hand-foot-genital syndrome	Likely pathogenic; Pathogenic	rs35861510, rs2534826601, rs104894019, rs1158254994, rs2534827764, rs121912542, rs2534827749, rs387906542	RCV001568360 RCV002472165 RCV000016018 RCV000016019 RCV000016020 RCV000016021 RCV000016024 RCV000016025	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
CARCINOMA, HEPATOCELLULAR	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital heart disease	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FEMALE UROGENITAL DISEASES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Guttmacher syndrome	Benign; Uncertain significance; Conflicting classifications of pathogenicity; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HOXA13-related disorder	Conflicting classifications of pathogenicity; Benign; Uncertain significance; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ULCERATIVE COLITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UTERUS BILOCULARIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Abnormal dermatoglyphic pattern	Abnormal dermatoglyphic pattern	HPO_DG			★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	29805592		★☆☆☆☆ Found in Text Mining only
ANONYCHIA	Anonychia	BEFREE	24934387		★☆☆☆☆ Found in Text Mining only
Ataxia	Ataxia	Pubtator	10839976, 36734258	Associate	★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	27830363		★☆☆☆☆ Found in Text Mining only
Brachydactyly	Brachydactyly	BEFREE	15643670		★☆☆☆☆ Found in Text Mining only
Brachydactyly	Brachydactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	32222541, 37392284	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	24114970, 25341685	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	29035381	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	27830363		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	29805592		★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	32444962	Associate	★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	30581456		★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	30581456		★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	22374828		★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	17203192, 17254481		★☆☆☆☆ Found in Text Mining only
Clinodactyly of the 5th finger	Camptodactyly of fingers	HPO_DG			★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	36514224	Associate	★☆☆☆☆ Found in Text Mining only
Congenital duplication of uterus	Congenital Duplication Of Uterus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Heart Defects	Congenital heart defects	BEFREE	21344639		★☆☆☆☆ Found in Text Mining only
Congenital small ears	Microtia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	BEFREE	20171623, 29017417		★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	Pubtator	20171623	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	19491265		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	BEFREE	19491265		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	19491265, 32222541	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	19491265, 29757528	Associate	★☆☆☆☆ Found in Text Mining only
Female Urogenital Diseases	Female Urogenital Diseases	CTD_human_DG	16002989		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioblastoma	Glioblastoma	BEFREE	26356815		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	26356815		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	26356815		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	26590955		★☆☆☆☆ Found in Text Mining only
Guttmacher syndrome	Guttmacher Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hand foot uterus syndrome	Hand-foot-genital syndrome	BEFREE	10839976, 11206481, 15385446, 15643670, 17935235, 19591980, 21549968, 23532960, 24934387, 27272187, 30649340, 9020844		★☆☆☆☆ Found in Text Mining only
Hand foot uterus syndrome	Hand-foot-genital syndrome	UNIPROT_DG	10839976, 12073020, 24934387, 26590955		★☆☆☆☆ Found in Text Mining only
Hand foot uterus syndrome	Hand-foot-genital syndrome	GENOMICS_ENGLAND_DG	10839976, 9020844		★☆☆☆☆ Found in Text Mining only
Hand foot uterus syndrome	Hand-foot-genital syndrome	CTD_human_DG	24239177, 9020844		★☆☆☆☆ Found in Text Mining only
Hand foot uterus syndrome	Hand-foot-genital syndrome	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Hand-foot-genital syndrome	Hand-foot-genital syndrome	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hirschsprung Disease	Hirschsprung Disease	BEFREE	26043692		★☆☆☆☆ Found in Text Mining only
Hypoplasia of thumb	Hypoplasia Of Thumb	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypospadias	Hypospadias	BEFREE	12783783, 17264867		★☆☆☆☆ Found in Text Mining only
Hypospadias	Hypospadias	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypospadias, balanic	Hypospadias	HPO_DG			★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	BEFREE	19424076		★☆☆☆☆ Found in Text Mining only
Kidney Neoplasms	Kidney neoplasm	Pubtator	30075554	Associate	★☆☆☆☆ Found in Text Mining only
Leiomyoma	Leiomyoma	Pubtator	31851934	Stimulate	★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	1348930		★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid	Myeloid leukemia	Pubtator	11830496	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	12112533		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	LHGDN	12112533		★☆☆☆☆ Found in Text Mining only
Limb Deformities, Congenital	Congenital anomaly of limb	BEFREE	30649340		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	11237769, 21626505, 24114970, 26710269, 29035381		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	CTD_human_DG	28284560		★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	19491265, 25341685	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic Metastasis	BEFREE	27830363		★☆☆☆☆ Found in Text Mining only
Malignant Glioma	Glioma	BEFREE	26356815		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	BEFREE	19491265		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	29035381		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	29805592		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	27064878, 28766961, 29117547		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	23592225, 28165563, 28387908, 28782268, 30881033		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	27830363		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	16804919, 26356815, 27064878, 29678634, 29805592		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	30581456		★☆☆☆☆ Found in Text Mining only
Mantle cell lymphoma	Mantle Cell Lymphoma	BEFREE	22374828		★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	11830496		★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	LHGDN	11830496		★☆☆☆☆ Found in Text Mining only
Myelodysplastic Syndromes	Myelodysplastic syndrome	Pubtator	11830496	Associate	★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia	Myeloid Leukemia	BEFREE	11830496		★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	11830496		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	37392284	Associate	★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	37563232	Stimulate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	19424076, 19491265, 26356815, 27064878, 28165563, 29757528		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	29805592		★☆☆☆☆ Found in Text Mining only
Oculocutaneous albinism type 2	Oculocutaneous albinism	Pubtator	28165563	Associate	★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	31044561		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	31044561	Associate	★☆☆☆☆ Found in Text Mining only
Pelvic Organ Prolapse	Pelvic organ prolapse	Pubtator	19423998	Inhibit	★☆☆☆☆ Found in Text Mining only
Penile hypospadias	Penile Hypospadias	BEFREE	12783783, 17264867		★☆☆☆☆ Found in Text Mining only
Penis agenesis	Penis Agenesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Polydactyly	Polydactyly	GENOMICS_ENGLAND_DG	9020844		★☆☆☆☆ Found in Text Mining only
Preaxial deficiency, postaxial polydactyly and hypospadias	Guttmacher syndrome	BEFREE	11968094, 24934387		★☆☆☆☆ Found in Text Mining only
Preaxial deficiency, postaxial polydactyly and hypospadias	Guttmacher syndrome	UNIPROT_DG	11968094		★☆☆☆☆ Found in Text Mining only
Preaxial deficiency, postaxial polydactyly and hypospadias	Guttmacher syndrome	ORPHANET_DG	11968094		★☆☆☆☆ Found in Text Mining only
Preaxial deficiency, postaxial polydactyly and hypospadias	Guttmacher syndrome	CTD_human_DG	24239177		★☆☆☆☆ Found in Text Mining only
Preaxial deficiency, postaxial polydactyly and hypospadias	Guttmacher syndrome	GENOMICS_ENGLAND_DG	9020844		★☆☆☆☆ Found in Text Mining only
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma	Lymphoblastic Leukemia	BEFREE	16804919		★☆☆☆☆ Found in Text Mining only
Prostate cancer familial	Prostate cancer	Pubtator	28272408	Associate	★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	27064878, 28766961, 29117547		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	29117547	Associate	★☆☆☆☆ Found in Text Mining only
Pyelonephritis	Pyelonephritis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Rufous oculocutaneous albinism	Rufous oculocutaneous albinism	Pubtator	28165563	Stimulate	★☆☆☆☆ Found in Text Mining only
Spondylocostal dysostosis autosomal recessive	Spondylocostal dysostosis	Pubtator	36734258	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	19491265, 21893383, 24626613, 28534516, 29757528		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	33629307	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	23592225, 28165563, 28387908, 28782268, 30881033		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	28165563, 28387908, 35647818	Associate	★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Syndactyly, type 2	Syndactyly	BEFREE	15643670		★☆☆☆☆ Found in Text Mining only
TARSAL-CARPAL COALITION SYNDROME	Tarsal-Carpal Coalition Syndrome	BEFREE	18245534		★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	24189220	Associate	★☆☆☆☆ Found in Text Mining only
Ulnar polydactyly of fingers	Postaxial hand polydactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Urogenital Abnormalities	Urogenital Abnormalities	BEFREE	10839976		★☆☆☆☆ Found in Text Mining only
Urogenital Abnormalities	Urogenital abnormalities	Pubtator	10839976	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	12824890, 28402266	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Fibroids	Uterine Fibroids	BEFREE	30723247		★☆☆☆☆ Found in Text Mining only
Ventricular Septal Defects	Ventricular septal defect	HPO_DG			★☆☆☆☆ Found in Text Mining only
Vesico-Ureteral Reflux	Vesicoureteral Reflux	HPO_DG			★☆☆☆☆ Found in Text Mining only
Werner Syndrome	Werner Syndrome	BEFREE	15561107		★☆☆☆☆ Found in Text Mining only