TBX15 (T-box transcription factor 15)

Gene

• Entrez ID: 6913
• Gene name: T-box transcription factor 15
• Gene symbol: TBX15
• Synonyms: TBX14
• Chromosome: 1
• Chromosome location: 1p12
• Summary: This gene belongs to the T-box family of genes, which encode a phylogenetically conserved family of transcription factors that regulate a variety of developmental processes. All these genes contain a common T-box DNA-binding domain. Mutations in this gene

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs200564235	T>C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs1571155763	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT017037	hsa-miR-335-5p	Microarray	18185580
MIRT496556	hsa-miR-5582-5p	PAR-CLIP	22291592
MIRT496555	hsa-miR-3622a-5p	PAR-CLIP	22291592
MIRT496554	hsa-miR-4301	PAR-CLIP	22291592
MIRT496553	hsa-miR-4286	PAR-CLIP	22291592
MIRT496552	hsa-miR-4320	PAR-CLIP	22291592
MIRT496551	hsa-miR-4423-3p	PAR-CLIP	22291592
MIRT496550	hsa-miR-2355-5p	PAR-CLIP	22291592
MIRT496549	hsa-miR-5004-3p	PAR-CLIP	22291592
MIRT732636	hsa-miR-145-5p	Luciferase reporter assay, RNA-seq, qRT-PCR, Western blotting	33453148
MIRT496556	hsa-miR-5582-5p	PAR-CLIP	22291592
MIRT496555	hsa-miR-3622a-5p	PAR-CLIP	22291592
MIRT496554	hsa-miR-4301	PAR-CLIP	22291592
MIRT496553	hsa-miR-4286	PAR-CLIP	22291592
MIRT496552	hsa-miR-4320	PAR-CLIP	22291592
MIRT496551	hsa-miR-4423-3p	PAR-CLIP	22291592
MIRT496550	hsa-miR-2355-5p	PAR-CLIP	22291592
MIRT496549	hsa-miR-5004-3p	PAR-CLIP	22291592
MIRT740039	hsa-miR-1178	CLIP-seq
MIRT1415064	hsa-miR-1236	CLIP-seq
MIRT1415065	hsa-miR-128	CLIP-seq
MIRT1415066	hsa-miR-1299	CLIP-seq
MIRT1415067	hsa-miR-27a	CLIP-seq
MIRT1415068	hsa-miR-27b	CLIP-seq
MIRT1415069	hsa-miR-3182	CLIP-seq
MIRT1415070	hsa-miR-3183	CLIP-seq
MIRT740040	hsa-miR-342-3p	CLIP-seq
MIRT1415071	hsa-miR-3545-5p	CLIP-seq
MIRT740042	hsa-miR-4282	CLIP-seq
MIRT740041	hsa-miR-4317	CLIP-seq
MIRT1415072	hsa-miR-4723-3p	CLIP-seq
MIRT1415073	hsa-miR-4782-5p	CLIP-seq
MIRT1415074	hsa-miR-516b	CLIP-seq
MIRT1554498	hsa-miR-1270	CLIP-seq
MIRT1554499	hsa-miR-223	CLIP-seq
MIRT1554500	hsa-miR-3927	CLIP-seq
MIRT1554501	hsa-miR-431	CLIP-seq
MIRT1554502	hsa-miR-4436b-3p	CLIP-seq
MIRT1554503	hsa-miR-4521	CLIP-seq
MIRT1554504	hsa-miR-4683	CLIP-seq
MIRT1554505	hsa-miR-4694-3p	CLIP-seq
MIRT1554506	hsa-miR-4697-3p	CLIP-seq
MIRT1554507	hsa-miR-4736	CLIP-seq
MIRT1554508	hsa-miR-620	CLIP-seq
MIRT1554509	hsa-miR-622	CLIP-seq
MIRT1554499	hsa-miR-223	CLIP-seq
MIRT1554501	hsa-miR-431	CLIP-seq
MIRT1554506	hsa-miR-4697-3p	CLIP-seq
MIRT2124537	hsa-miR-4795-3p	CLIP-seq
MIRT1554509	hsa-miR-622	CLIP-seq
MIRT2124537	hsa-miR-4795-3p	CLIP-seq
MIRT1554509	hsa-miR-622	CLIP-seq
MIRT1554499	hsa-miR-223	CLIP-seq
MIRT1554501	hsa-miR-431	CLIP-seq
MIRT1554506	hsa-miR-4697-3p	CLIP-seq
MIRT1554509	hsa-miR-622	CLIP-seq
MIRT2639417	hsa-miR-1180	CLIP-seq
MIRT2639418	hsa-miR-1182	CLIP-seq
MIRT2639419	hsa-miR-1228	CLIP-seq
MIRT2639420	hsa-miR-1231	CLIP-seq
MIRT1415064	hsa-miR-1236	CLIP-seq
MIRT2639421	hsa-miR-1237	CLIP-seq
MIRT2639422	hsa-miR-1248	CLIP-seq
MIRT2639423	hsa-miR-125a-3p	CLIP-seq
MIRT2639424	hsa-miR-1285	CLIP-seq
MIRT2639425	hsa-miR-1298	CLIP-seq
MIRT1415066	hsa-miR-1299	CLIP-seq
MIRT2639426	hsa-miR-145	CLIP-seq
MIRT2639427	hsa-miR-1470	CLIP-seq
MIRT2639428	hsa-miR-1976	CLIP-seq
MIRT2639429	hsa-miR-2117	CLIP-seq
MIRT2639430	hsa-miR-219-1-3p	CLIP-seq
MIRT2639431	hsa-miR-219-2-3p	CLIP-seq
MIRT1554499	hsa-miR-223	CLIP-seq
MIRT2639432	hsa-miR-2861	CLIP-seq
MIRT2639433	hsa-miR-2964a-3p	CLIP-seq
MIRT2639434	hsa-miR-2964a-5p	CLIP-seq
MIRT2639435	hsa-miR-297	CLIP-seq
MIRT2639436	hsa-miR-298	CLIP-seq
MIRT2639437	hsa-miR-300	CLIP-seq
MIRT2639438	hsa-miR-3064-3p	CLIP-seq
MIRT2639439	hsa-miR-3124-3p	CLIP-seq
MIRT2639440	hsa-miR-3130-5p	CLIP-seq
MIRT2639441	hsa-miR-3136-3p	CLIP-seq
MIRT2639442	hsa-miR-3143	CLIP-seq
MIRT2639443	hsa-miR-3152-5p	CLIP-seq
MIRT2639444	hsa-miR-3162-3p	CLIP-seq
MIRT2639445	hsa-miR-3163	CLIP-seq
MIRT2639446	hsa-miR-3187-5p	CLIP-seq
MIRT2639447	hsa-miR-3192	CLIP-seq
MIRT2639448	hsa-miR-340	CLIP-seq
MIRT2639449	hsa-miR-3612	CLIP-seq
MIRT2639450	hsa-miR-3613-5p	CLIP-seq
MIRT2639451	hsa-miR-3667-3p	CLIP-seq
MIRT2639452	hsa-miR-3689a-3p	CLIP-seq
MIRT2639453	hsa-miR-3689c	CLIP-seq
MIRT2639454	hsa-miR-3691-3p	CLIP-seq
MIRT2639455	hsa-miR-3692	CLIP-seq
MIRT2639456	hsa-miR-3714	CLIP-seq
MIRT2639457	hsa-miR-377	CLIP-seq
MIRT2639458	hsa-miR-378g	CLIP-seq
MIRT2639459	hsa-miR-381	CLIP-seq
MIRT2639460	hsa-miR-3924	CLIP-seq
MIRT2639461	hsa-miR-3925-3p	CLIP-seq
MIRT2639462	hsa-miR-3934	CLIP-seq
MIRT2639463	hsa-miR-3974	CLIP-seq
MIRT2639464	hsa-miR-412	CLIP-seq
MIRT2639465	hsa-miR-4252	CLIP-seq
MIRT2639466	hsa-miR-4254	CLIP-seq
MIRT2639467	hsa-miR-4273	CLIP-seq
MIRT2639468	hsa-miR-4279	CLIP-seq
MIRT2639469	hsa-miR-4287	CLIP-seq
MIRT2639470	hsa-miR-4302	CLIP-seq
MIRT1554501	hsa-miR-431	CLIP-seq
MIRT2639471	hsa-miR-4314	CLIP-seq
MIRT2639472	hsa-miR-4423-5p	CLIP-seq
MIRT2639473	hsa-miR-4436b-5p	CLIP-seq
MIRT2639474	hsa-miR-4443	CLIP-seq
MIRT2639475	hsa-miR-4469	CLIP-seq
MIRT2639476	hsa-miR-4480	CLIP-seq
MIRT2639477	hsa-miR-4482	CLIP-seq
MIRT2639478	hsa-miR-4486	CLIP-seq
MIRT2639479	hsa-miR-4639-3p	CLIP-seq
MIRT2639480	hsa-miR-4646-5p	CLIP-seq
MIRT2639481	hsa-miR-4650-5p	CLIP-seq
MIRT2639482	hsa-miR-4652-3p	CLIP-seq
MIRT2639483	hsa-miR-4664-3p	CLIP-seq
MIRT2639484	hsa-miR-4667-3p	CLIP-seq
MIRT2639485	hsa-miR-4672	CLIP-seq
MIRT2639486	hsa-miR-4682	CLIP-seq
MIRT2639487	hsa-miR-4684-5p	CLIP-seq
MIRT2639488	hsa-miR-4685-3p	CLIP-seq
MIRT1554506	hsa-miR-4697-3p	CLIP-seq
MIRT2639489	hsa-miR-4701-5p	CLIP-seq
MIRT2639490	hsa-miR-4704-5p	CLIP-seq
MIRT2639491	hsa-miR-4709-3p	CLIP-seq
MIRT2639492	hsa-miR-4713-5p	CLIP-seq
MIRT2639493	hsa-miR-4717-5p	CLIP-seq
MIRT2639494	hsa-miR-4728-5p	CLIP-seq
MIRT2639495	hsa-miR-4747-5p	CLIP-seq
MIRT2639496	hsa-miR-4753-3p	CLIP-seq
MIRT2639497	hsa-miR-4753-5p	CLIP-seq
MIRT2639498	hsa-miR-4754	CLIP-seq
MIRT2639499	hsa-miR-4755-3p	CLIP-seq
MIRT2639500	hsa-miR-4757-3p	CLIP-seq
MIRT2639501	hsa-miR-4757-5p	CLIP-seq
MIRT2639502	hsa-miR-4768-5p	CLIP-seq
MIRT2639503	hsa-miR-4778-3p	CLIP-seq
MIRT2639504	hsa-miR-4781-5p	CLIP-seq
MIRT1415073	hsa-miR-4782-5p	CLIP-seq
MIRT2639505	hsa-miR-4786-3p	CLIP-seq
MIRT2639506	hsa-miR-4797-5p	CLIP-seq
MIRT2639507	hsa-miR-4802-3p	CLIP-seq
MIRT2639508	hsa-miR-511	CLIP-seq
MIRT2639509	hsa-miR-518d-5p	CLIP-seq
MIRT2639510	hsa-miR-519b-5p	CLIP-seq
MIRT2639511	hsa-miR-519c-5p	CLIP-seq
MIRT2639512	hsa-miR-520c-5p	CLIP-seq
MIRT2639513	hsa-miR-526a	CLIP-seq
MIRT2639514	hsa-miR-543	CLIP-seq
MIRT2639515	hsa-miR-548a-3p	CLIP-seq
MIRT2639516	hsa-miR-548e	CLIP-seq
MIRT2639517	hsa-miR-548f	CLIP-seq
MIRT2639518	hsa-miR-567	CLIP-seq
MIRT2639519	hsa-miR-571	CLIP-seq
MIRT2639520	hsa-miR-588	CLIP-seq
MIRT2639521	hsa-miR-603	CLIP-seq
MIRT2639522	hsa-miR-612	CLIP-seq
MIRT2639523	hsa-miR-619	CLIP-seq
MIRT1554509	hsa-miR-622	CLIP-seq
MIRT2639524	hsa-miR-642a	CLIP-seq
MIRT2639525	hsa-miR-648	CLIP-seq
MIRT2639526	hsa-miR-650	CLIP-seq
MIRT2639527	hsa-miR-660	CLIP-seq
MIRT2639528	hsa-miR-665	CLIP-seq
MIRT2639529	hsa-miR-671-5p	CLIP-seq
MIRT2639530	hsa-miR-759	CLIP-seq
MIRT2639531	hsa-miR-764	CLIP-seq
MIRT2639532	hsa-miR-766	CLIP-seq
MIRT2639533	hsa-miR-767-3p	CLIP-seq
MIRT2639534	hsa-miR-875-3p	CLIP-seq
MIRT2639535	hsa-miR-885-3p	CLIP-seq
MIRT2639536	hsa-miR-942	CLIP-seq
MIRT2639417	hsa-miR-1180	CLIP-seq
MIRT2639418	hsa-miR-1182	CLIP-seq
MIRT2639419	hsa-miR-1228	CLIP-seq
MIRT2639420	hsa-miR-1231	CLIP-seq
MIRT1415064	hsa-miR-1236	CLIP-seq
MIRT2639421	hsa-miR-1237	CLIP-seq
MIRT2639422	hsa-miR-1248	CLIP-seq
MIRT2639423	hsa-miR-125a-3p	CLIP-seq
MIRT2639424	hsa-miR-1285	CLIP-seq
MIRT1415066	hsa-miR-1299	CLIP-seq
MIRT2639426	hsa-miR-145	CLIP-seq
MIRT2639427	hsa-miR-1470	CLIP-seq
MIRT2692742	hsa-miR-196a	CLIP-seq
MIRT2692743	hsa-miR-196b	CLIP-seq
MIRT2639428	hsa-miR-1976	CLIP-seq
MIRT2639429	hsa-miR-2117	CLIP-seq
MIRT2639430	hsa-miR-219-1-3p	CLIP-seq
MIRT2639431	hsa-miR-219-2-3p	CLIP-seq
MIRT1554499	hsa-miR-223	CLIP-seq
MIRT2639432	hsa-miR-2861	CLIP-seq
MIRT2639433	hsa-miR-2964a-3p	CLIP-seq
MIRT2639434	hsa-miR-2964a-5p	CLIP-seq
MIRT2639435	hsa-miR-297	CLIP-seq
MIRT2639436	hsa-miR-298	CLIP-seq
MIRT2639437	hsa-miR-300	CLIP-seq
MIRT2639438	hsa-miR-3064-3p	CLIP-seq
MIRT2639439	hsa-miR-3124-3p	CLIP-seq
MIRT2639440	hsa-miR-3130-5p	CLIP-seq
MIRT2639441	hsa-miR-3136-3p	CLIP-seq
MIRT2639442	hsa-miR-3143	CLIP-seq
MIRT2639443	hsa-miR-3152-5p	CLIP-seq
MIRT2639445	hsa-miR-3163	CLIP-seq
MIRT2639446	hsa-miR-3187-5p	CLIP-seq
MIRT2639447	hsa-miR-3192	CLIP-seq
MIRT2639448	hsa-miR-340	CLIP-seq
MIRT2639449	hsa-miR-3612	CLIP-seq
MIRT2639450	hsa-miR-3613-5p	CLIP-seq
MIRT2639451	hsa-miR-3667-3p	CLIP-seq
MIRT2639452	hsa-miR-3689a-3p	CLIP-seq
MIRT2639453	hsa-miR-3689c	CLIP-seq
MIRT2639454	hsa-miR-3691-3p	CLIP-seq
MIRT2639455	hsa-miR-3692	CLIP-seq
MIRT2639456	hsa-miR-3714	CLIP-seq
MIRT2639457	hsa-miR-377	CLIP-seq
MIRT2639458	hsa-miR-378g	CLIP-seq
MIRT2639459	hsa-miR-381	CLIP-seq
MIRT2639460	hsa-miR-3924	CLIP-seq
MIRT2639461	hsa-miR-3925-3p	CLIP-seq
MIRT1554500	hsa-miR-3927	CLIP-seq
MIRT2639462	hsa-miR-3934	CLIP-seq
MIRT2639463	hsa-miR-3974	CLIP-seq
MIRT2639464	hsa-miR-412	CLIP-seq
MIRT2639465	hsa-miR-4252	CLIP-seq
MIRT2639466	hsa-miR-4254	CLIP-seq
MIRT2639467	hsa-miR-4273	CLIP-seq
MIRT2639468	hsa-miR-4279	CLIP-seq
MIRT2639469	hsa-miR-4287	CLIP-seq
MIRT2639470	hsa-miR-4302	CLIP-seq
MIRT1554501	hsa-miR-431	CLIP-seq
MIRT2639471	hsa-miR-4314	CLIP-seq
MIRT2639472	hsa-miR-4423-5p	CLIP-seq
MIRT2639473	hsa-miR-4436b-5p	CLIP-seq
MIRT2639474	hsa-miR-4443	CLIP-seq
MIRT2639475	hsa-miR-4469	CLIP-seq
MIRT2639476	hsa-miR-4480	CLIP-seq
MIRT2639477	hsa-miR-4482	CLIP-seq
MIRT2639478	hsa-miR-4486	CLIP-seq
MIRT2639479	hsa-miR-4639-3p	CLIP-seq
MIRT2639480	hsa-miR-4646-5p	CLIP-seq
MIRT2639481	hsa-miR-4650-5p	CLIP-seq
MIRT2639482	hsa-miR-4652-3p	CLIP-seq
MIRT2639483	hsa-miR-4664-3p	CLIP-seq
MIRT2639484	hsa-miR-4667-3p	CLIP-seq
MIRT2639485	hsa-miR-4672	CLIP-seq
MIRT2639486	hsa-miR-4682	CLIP-seq
MIRT2639487	hsa-miR-4684-5p	CLIP-seq
MIRT2639488	hsa-miR-4685-3p	CLIP-seq
MIRT1554506	hsa-miR-4697-3p	CLIP-seq
MIRT2639489	hsa-miR-4701-5p	CLIP-seq
MIRT2639490	hsa-miR-4704-5p	CLIP-seq
MIRT2639491	hsa-miR-4709-3p	CLIP-seq
MIRT2639492	hsa-miR-4713-5p	CLIP-seq
MIRT2639493	hsa-miR-4717-5p	CLIP-seq
MIRT2639494	hsa-miR-4728-5p	CLIP-seq
MIRT2639495	hsa-miR-4747-5p	CLIP-seq
MIRT2639496	hsa-miR-4753-3p	CLIP-seq
MIRT2639497	hsa-miR-4753-5p	CLIP-seq
MIRT2639498	hsa-miR-4754	CLIP-seq
MIRT2639499	hsa-miR-4755-3p	CLIP-seq
MIRT2639500	hsa-miR-4757-3p	CLIP-seq
MIRT2639501	hsa-miR-4757-5p	CLIP-seq
MIRT2639502	hsa-miR-4768-5p	CLIP-seq
MIRT2639503	hsa-miR-4778-3p	CLIP-seq
MIRT2639504	hsa-miR-4781-5p	CLIP-seq
MIRT1415073	hsa-miR-4782-5p	CLIP-seq
MIRT2639505	hsa-miR-4786-3p	CLIP-seq
MIRT2639506	hsa-miR-4797-5p	CLIP-seq
MIRT2639508	hsa-miR-511	CLIP-seq
MIRT2639509	hsa-miR-518d-5p	CLIP-seq
MIRT2639510	hsa-miR-519b-5p	CLIP-seq
MIRT2639511	hsa-miR-519c-5p	CLIP-seq
MIRT2639512	hsa-miR-520c-5p	CLIP-seq
MIRT2639513	hsa-miR-526a	CLIP-seq
MIRT2639514	hsa-miR-543	CLIP-seq
MIRT2639515	hsa-miR-548a-3p	CLIP-seq
MIRT2639516	hsa-miR-548e	CLIP-seq
MIRT2639517	hsa-miR-548f	CLIP-seq
MIRT2639518	hsa-miR-567	CLIP-seq
MIRT2639519	hsa-miR-571	CLIP-seq
MIRT2639520	hsa-miR-588	CLIP-seq
MIRT2639521	hsa-miR-603	CLIP-seq
MIRT2639522	hsa-miR-612	CLIP-seq
MIRT2639523	hsa-miR-619	CLIP-seq
MIRT1554509	hsa-miR-622	CLIP-seq
MIRT2639524	hsa-miR-642a	CLIP-seq
MIRT2639525	hsa-miR-648	CLIP-seq
MIRT2639526	hsa-miR-650	CLIP-seq
MIRT2639527	hsa-miR-660	CLIP-seq
MIRT2639528	hsa-miR-665	CLIP-seq
MIRT2639529	hsa-miR-671-5p	CLIP-seq
MIRT2639530	hsa-miR-759	CLIP-seq
MIRT2639531	hsa-miR-764	CLIP-seq
MIRT2639532	hsa-miR-766	CLIP-seq
MIRT2639533	hsa-miR-767-3p	CLIP-seq
MIRT2639534	hsa-miR-875-3p	CLIP-seq
MIRT2639535	hsa-miR-885-3p	CLIP-seq
MIRT2639536	hsa-miR-942	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IEA
GO:0000785	Component	Chromatin	ISA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA	21873635
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA	21873635
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0001227	Function	DNA-binding transcription repressor activity, RNA polymerase II-specific	IEA
GO:0001708	Process	Cell fate specification	IBA	21873635
GO:0005515	Function	Protein binding	IPI	25416956, 31515488, 32296183
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA	21873635
GO:0042803	Function	Protein homodimerization activity	IEA
GO:0048701	Process	Embryonic cranial skeleton morphogenesis	IEA
GO:0090571	Component	RNA polymerase II transcription repressor complex	IEA
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536

Other IDs

• MIM: 604127
• HGNC: 11594
• e!Ensembl: ENSG00000092607

Protein

• UniProt ID: Q96SF7
• Protein name: T-box transcription factor TBX15 (T-box protein 15) (T-box transcription factor TBX14) (T-box protein 14)
• Protein function: Probable transcriptional regulator involved in the development of the skeleton of the limb, vertebral column and head. Acts by controlling the number of mesenchymal precursor cells and chondrocytes (By similarity).
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00907	T-box	115 → 304	T-box	Domain

• Sequence:

  MSERRRSAVALSSRAHAFSVEALIGSNKKRKLRDWEEKGLDLSMEALSPAGPLGDTEDAA
  AHGLEPHPDSEQSTGSDSEVLTERTSCSFSTHTDLASGAAGPVPAAMSSMEEIQVELQCA
  DLWKRFHDIGTEMIITKAGRRMFPAMRVKITGLDPHQQYYIAMDIVPVDNKRYRYVYHSS
  KWMVAGNADSPVPPRVYIHPDSLASGDTWMRQVVSFDKLKLTNNELDDQGHIILHSMHKY
  QPRVHVIRKDFSSDLSPTKPVPVGDGVKTFNFPETVFTTVTAYQNQQITRLKIDRNPFAK
  GFRDSGRNRTGLEAIMETYAFWRPPVRTLTFEDFTTMQKQQGGSTGTSPTTSSTGTPSPS
  ASSHLLSPSCSPPTFHLAPNTFNVGCRESQLCNLNLSDYPPCARSNMAALQSYPGLSDSG
  YNRLQSGTTSATQPSETFMPQRTPSLISGIPTPPSLPGNSKMEAYGGQLGSFPTSQFQYV
  MQAGNAASSSSSPHMFGGSHMQQSSYNAFSLHNPYNLYGYNFPTSPRLAASPEKLSASQS
  TLLCSSPSNGAFGERQYLPSGMEHSMHMISPSPNNQQATNTCDGRQYGAVPGSSSQMSVH
  MV

• Sequence length: 602

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Brachydactyly	Brachydactyly	rs121908949, rs28937580, rs121909082, rs104894122, rs863223289, rs863223290, rs104894121, rs1587657302, rs863223292, rs74315386, rs74315387, rs28936397, rs753691079, rs121909348, rs121917852, rs121917853, rs121917854, rs121917855, rs121917859, rs121917861, rs267606873, rs267606872, rs267606985, rs267606986, rs267606987, rs267606988, rs28933082, rs397514519, rs869025613, rs869025614, rs886039878, rs1553540620, rs1057518333, rs1948841937, rs1948868228, rs1948842030, rs1948842142
Hydrocephalus	Hydrocephalus	rs387907320, rs369384363, rs387907321, rs372127610, rs770273135, rs797045095, rs797045707, rs769795916, rs781251438, rs922703465, rs376078512, rs1567043467, rs1587149916, rs1586841546
Macrocephaly	Macrocephaly	rs786204854, rs764333096, rs1557739557
Microphthalmos	Microphthalmos	rs794726862, rs1329285216
Pelviscapular dysplasia	Pelviscapular dysplasia	rs2101422204, rs2101422164	24039145, 19068278

Unknown
Disease name	Disease term	dbSNP ID	References
Alopecia	Alopecia		28196072
Alopecia, male pattern	Alopecia, Male Pattern		29146897
Ambiguous genitalia	Ambiguous genitalia, female	rs782562963
Androgenetic alopecia	Androgenetic Alopecia, Alopecia, Androgenetic, 3, Alopecia, Androgenetic, 2, Alopecia, Androgenetic, 1		29146897
Blepharophimosis	Blepharophimosis
Camptodactyly of fingers	Clinodactyly of the 5th finger
Congenital camptodactyly	Congenital Camptodactyly
Congenital clubfoot	Congenital clubfoot
Dislocated radial head	Congenital dislocation of radial head
Developmental dysplasia of the hip	Congenital Dysplasia Of The Hip
Short femur	Congenital hypoplasia of femur
Dwarfism	Dwarfism
Elbow flexion contracture	Flexion contracture - elbow
Flexion contracture of wrist	Flexion contracture - wrist
Frontal bossing	Frontal bossing
Hydranencephaly	Hydranencephaly
Hydronephrosis	Hydronephrosis
Mesomelia	Mesomelia
Microcornea	Microcornea
Microglossia	Microglossia
Micrognathism	Micrognathism
Ramer ladda syndrome	Ramer Ladda syndrome
Rhizomelia	Rhizomelia
Stenosis of external auditory canal	Stenosis of external auditory canal
Strabismus	Strabismus
Syndactyly of the toes	Syndactyly of the toes, 2-3 toe syndactyly