ZC4H2 (zinc finger C4H2-type containing)

Gene

• Entrez ID: 55906
• Gene name: Zinc finger C4H2-type containing
• Gene symbol: ZC4H2
• Synonyms (NCBI Gene): HCA127, KIAA1166, MCS, MRXS4, WRWF, WRWFFR, WWS
• Disease Acronyms (UniProt): WRWF, WRWFFR
• Chromosome: X
• Chromosome location: Xq11.2
• Summary: This gene encodes a member of the zinc finger domain-containing protein family. This family member has a C-terminal zinc finger domain that is characterized by four cysteine residues and two histidine residues, and it also includes a coiled-coil region. T

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs137962226	G>A,T	Benign, pathogenic, likely-pathogenic	Coding sequence variant, non coding transcript variant, synonymous variant, missense variant
rs398122938	C>G	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs398122939	G>A	Pathogenic	Non coding transcript variant, synonymous variant, missense variant, coding sequence variant
rs750367160	TTC>-	Pathogenic	Coding sequence variant, non coding transcript variant, inframe deletion
rs797044863	G>A	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs879255235	C>T	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs879255236	G>A	Pathogenic	Synonymous variant, missense variant, non coding transcript variant, coding sequence variant
rs879255362	C>A	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs1057520297	A>T	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1057520298	C>G,T	Likely-pathogenic, pathogenic	Intron variant
rs1057520299	C>T	Pathogenic	Missense variant, coding sequence variant, intron variant, non coding transcript variant
rs1064795680	C>T	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1064795753	C>A	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1131691616	G>A	Pathogenic-likely-pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs1260869746	G>A,T	Likely-pathogenic, pathogenic	Missense variant, stop gained, non coding transcript variant, intron variant, coding sequence variant
rs1555933616	G>A	Likely-pathogenic	Non coding transcript variant, synonymous variant, missense variant, coding sequence variant
rs1555933851	->G	Pathogenic	Intron variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1555945816	AT>-	Pathogenic	Intron variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1569200407	AT>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1602379828	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained, intron variant
rs1602382354	->TTCCT	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT442883	hsa-miR-218-2-3p	PAR-CLIP	22100165
MIRT442882	hsa-miR-4539	PAR-CLIP	22100165
MIRT442881	hsa-miR-182-3p	PAR-CLIP	22100165
MIRT442880	hsa-miR-597-3p	PAR-CLIP	22100165
MIRT442879	hsa-miR-152-5p	PAR-CLIP	22100165
MIRT442883	hsa-miR-218-2-3p	PAR-CLIP	22100165
MIRT442882	hsa-miR-4539	PAR-CLIP	22100165
MIRT442881	hsa-miR-182-3p	PAR-CLIP	22100165
MIRT442880	hsa-miR-597-3p	PAR-CLIP	22100165
MIRT442879	hsa-miR-152-5p	PAR-CLIP	22100165
MIRT1506610	hsa-miR-2110	CLIP-seq
MIRT1506611	hsa-miR-23a	CLIP-seq
MIRT1506612	hsa-miR-23b	CLIP-seq
MIRT1506613	hsa-miR-23c	CLIP-seq
MIRT1506614	hsa-miR-296-3p	CLIP-seq
MIRT1506615	hsa-miR-299-3p	CLIP-seq
MIRT1506616	hsa-miR-3150a-3p	CLIP-seq
MIRT1506617	hsa-miR-3151	CLIP-seq
MIRT1506618	hsa-miR-3175	CLIP-seq
MIRT1506619	hsa-miR-329	CLIP-seq
MIRT1506620	hsa-miR-3606	CLIP-seq
MIRT1506621	hsa-miR-362-3p	CLIP-seq
MIRT1506622	hsa-miR-3941	CLIP-seq
MIRT1506623	hsa-miR-4283	CLIP-seq
MIRT1506624	hsa-miR-4293	CLIP-seq
MIRT1506625	hsa-miR-4436a	CLIP-seq
MIRT1506626	hsa-miR-4447	CLIP-seq
MIRT1506627	hsa-miR-4472	CLIP-seq
MIRT1506628	hsa-miR-4489	CLIP-seq
MIRT1506629	hsa-miR-4491	CLIP-seq
MIRT1506630	hsa-miR-4648	CLIP-seq
MIRT1506631	hsa-miR-4654	CLIP-seq
MIRT1506632	hsa-miR-4657	CLIP-seq
MIRT1506633	hsa-miR-4769-5p	CLIP-seq
MIRT1506634	hsa-miR-4789-3p	CLIP-seq
MIRT1506635	hsa-miR-4795-5p	CLIP-seq
MIRT1506636	hsa-miR-491-5p	CLIP-seq
MIRT1506637	hsa-miR-603	CLIP-seq
MIRT1506638	hsa-miR-939	CLIP-seq
MIRT2152573	hsa-miR-1200	CLIP-seq
MIRT2152574	hsa-miR-188-5p	CLIP-seq
MIRT2152575	hsa-miR-2467-5p	CLIP-seq
MIRT2152576	hsa-miR-3160-3p	CLIP-seq
MIRT2152577	hsa-miR-3188	CLIP-seq
MIRT2152578	hsa-miR-3975	CLIP-seq
MIRT2152579	hsa-miR-4324	CLIP-seq
MIRT2152580	hsa-miR-4487	CLIP-seq
MIRT2152581	hsa-miR-4649-3p	CLIP-seq
MIRT2152582	hsa-miR-485-5p	CLIP-seq
MIRT2152583	hsa-miR-544b	CLIP-seq
MIRT2152584	hsa-miR-558	CLIP-seq
MIRT2665663	hsa-miR-1207-5p	CLIP-seq
MIRT2665664	hsa-miR-1227	CLIP-seq
MIRT2665665	hsa-miR-1252	CLIP-seq
MIRT2665666	hsa-miR-1256	CLIP-seq
MIRT2665667	hsa-miR-1276	CLIP-seq
MIRT2665668	hsa-miR-129-5p	CLIP-seq
MIRT2665669	hsa-miR-1913	CLIP-seq
MIRT2665670	hsa-miR-204	CLIP-seq
MIRT2665671	hsa-miR-211	CLIP-seq
MIRT2665672	hsa-miR-2278	CLIP-seq
MIRT2665673	hsa-miR-2355-5p	CLIP-seq
MIRT2665674	hsa-miR-2467-3p	CLIP-seq
MIRT2665675	hsa-miR-2861	CLIP-seq
MIRT2665676	hsa-miR-3123	CLIP-seq
MIRT2665677	hsa-miR-3125	CLIP-seq
MIRT2665678	hsa-miR-3148	CLIP-seq
MIRT2665679	hsa-miR-3157-3p	CLIP-seq
MIRT2665680	hsa-miR-3183	CLIP-seq
MIRT2665681	hsa-miR-3200-5p	CLIP-seq
MIRT2665682	hsa-miR-324-3p	CLIP-seq
MIRT1506619	hsa-miR-329	CLIP-seq
MIRT2665683	hsa-miR-331-3p	CLIP-seq
MIRT1506620	hsa-miR-3606	CLIP-seq
MIRT1506621	hsa-miR-362-3p	CLIP-seq
MIRT2665684	hsa-miR-3661	CLIP-seq
MIRT2665685	hsa-miR-3688-5p	CLIP-seq
MIRT2665686	hsa-miR-3916	CLIP-seq
MIRT2665687	hsa-miR-3925-5p	CLIP-seq
MIRT2665688	hsa-miR-3928	CLIP-seq
MIRT1506622	hsa-miR-3941	CLIP-seq
MIRT2665689	hsa-miR-3976	CLIP-seq
MIRT2665690	hsa-miR-4269	CLIP-seq
MIRT2665691	hsa-miR-4279	CLIP-seq
MIRT2665692	hsa-miR-4282	CLIP-seq
MIRT1506623	hsa-miR-4283	CLIP-seq
MIRT2665693	hsa-miR-4303	CLIP-seq
MIRT2665694	hsa-miR-4318	CLIP-seq
MIRT2665695	hsa-miR-4436b-3p	CLIP-seq
MIRT2665696	hsa-miR-4448	CLIP-seq
MIRT2665697	hsa-miR-4468	CLIP-seq
MIRT2665698	hsa-miR-4476	CLIP-seq
MIRT2665699	hsa-miR-4477b	CLIP-seq
MIRT2665700	hsa-miR-4488	CLIP-seq
MIRT1506628	hsa-miR-4489	CLIP-seq
MIRT2665701	hsa-miR-4495	CLIP-seq
MIRT2665702	hsa-miR-4514	CLIP-seq
MIRT2665703	hsa-miR-4521	CLIP-seq
MIRT2665704	hsa-miR-4533	CLIP-seq
MIRT2665705	hsa-miR-455-5p	CLIP-seq
MIRT2665706	hsa-miR-4639-3p	CLIP-seq
MIRT2665707	hsa-miR-4645-5p	CLIP-seq
MIRT2665708	hsa-miR-4650-5p	CLIP-seq
MIRT2665709	hsa-miR-4673	CLIP-seq
MIRT2665710	hsa-miR-4692	CLIP-seq
MIRT2665711	hsa-miR-4697-5p	CLIP-seq
MIRT2665712	hsa-miR-4699-3p	CLIP-seq
MIRT2665713	hsa-miR-4723-3p	CLIP-seq
MIRT2665714	hsa-miR-4742-5p	CLIP-seq
MIRT2665715	hsa-miR-4749-3p	CLIP-seq
MIRT2665716	hsa-miR-4755-5p	CLIP-seq
MIRT2665717	hsa-miR-4762-5p	CLIP-seq
MIRT2665718	hsa-miR-4763-3p	CLIP-seq
MIRT2665719	hsa-miR-4786-5p	CLIP-seq
MIRT1506634	hsa-miR-4789-3p	CLIP-seq
MIRT2665720	hsa-miR-4799-5p	CLIP-seq
MIRT2665721	hsa-miR-494	CLIP-seq
MIRT2665722	hsa-miR-548a-3p	CLIP-seq
MIRT2665723	hsa-miR-548e	CLIP-seq
MIRT2665724	hsa-miR-548f	CLIP-seq
MIRT2665725	hsa-miR-550b	CLIP-seq
MIRT1506637	hsa-miR-603	CLIP-seq
MIRT2665726	hsa-miR-606	CLIP-seq
MIRT2665727	hsa-miR-607	CLIP-seq
MIRT2665728	hsa-miR-623	CLIP-seq
MIRT2665729	hsa-miR-631	CLIP-seq
MIRT2665730	hsa-miR-637	CLIP-seq
MIRT2665731	hsa-miR-661	CLIP-seq
MIRT2665732	hsa-miR-671-5p	CLIP-seq
MIRT2665733	hsa-miR-769-5p	CLIP-seq
MIRT2665734	hsa-miR-874	CLIP-seq
MIRT2665735	hsa-miR-888	CLIP-seq
MIRT2665736	hsa-miR-938	CLIP-seq
MIRT2665664	hsa-miR-1227	CLIP-seq
MIRT2665666	hsa-miR-1256	CLIP-seq
MIRT2665667	hsa-miR-1276	CLIP-seq
MIRT2665668	hsa-miR-129-5p	CLIP-seq
MIRT2665669	hsa-miR-1913	CLIP-seq
MIRT2665670	hsa-miR-204	CLIP-seq
MIRT2665671	hsa-miR-211	CLIP-seq
MIRT2695562	hsa-miR-223	CLIP-seq
MIRT2665672	hsa-miR-2278	CLIP-seq
MIRT2665674	hsa-miR-2467-3p	CLIP-seq
MIRT2665675	hsa-miR-2861	CLIP-seq
MIRT2665676	hsa-miR-3123	CLIP-seq
MIRT2665677	hsa-miR-3125	CLIP-seq
MIRT2665679	hsa-miR-3157-3p	CLIP-seq
MIRT2665680	hsa-miR-3183	CLIP-seq
MIRT2665681	hsa-miR-3200-5p	CLIP-seq
MIRT2665682	hsa-miR-324-3p	CLIP-seq
MIRT1506619	hsa-miR-329	CLIP-seq
MIRT2665683	hsa-miR-331-3p	CLIP-seq
MIRT1506620	hsa-miR-3606	CLIP-seq
MIRT1506621	hsa-miR-362-3p	CLIP-seq
MIRT2665684	hsa-miR-3661	CLIP-seq
MIRT2665685	hsa-miR-3688-5p	CLIP-seq
MIRT2665686	hsa-miR-3916	CLIP-seq
MIRT2665687	hsa-miR-3925-5p	CLIP-seq
MIRT2665688	hsa-miR-3928	CLIP-seq
MIRT1506622	hsa-miR-3941	CLIP-seq
MIRT2665689	hsa-miR-3976	CLIP-seq
MIRT2665690	hsa-miR-4269	CLIP-seq
MIRT2665691	hsa-miR-4279	CLIP-seq
MIRT2665692	hsa-miR-4282	CLIP-seq
MIRT1506623	hsa-miR-4283	CLIP-seq
MIRT2665693	hsa-miR-4303	CLIP-seq
MIRT2665694	hsa-miR-4318	CLIP-seq
MIRT2665695	hsa-miR-4436b-3p	CLIP-seq
MIRT2665696	hsa-miR-4448	CLIP-seq
MIRT2665697	hsa-miR-4468	CLIP-seq
MIRT2665700	hsa-miR-4488	CLIP-seq
MIRT1506628	hsa-miR-4489	CLIP-seq
MIRT2665701	hsa-miR-4495	CLIP-seq
MIRT2665702	hsa-miR-4514	CLIP-seq
MIRT2665703	hsa-miR-4521	CLIP-seq
MIRT2665705	hsa-miR-455-5p	CLIP-seq
MIRT2665706	hsa-miR-4639-3p	CLIP-seq
MIRT2665707	hsa-miR-4645-5p	CLIP-seq
MIRT2665708	hsa-miR-4650-5p	CLIP-seq
MIRT2665709	hsa-miR-4673	CLIP-seq
MIRT2695563	hsa-miR-4690-3p	CLIP-seq
MIRT2665710	hsa-miR-4692	CLIP-seq
MIRT2695564	hsa-miR-4697-3p	CLIP-seq
MIRT2665711	hsa-miR-4697-5p	CLIP-seq
MIRT2665712	hsa-miR-4699-3p	CLIP-seq
MIRT2695565	hsa-miR-4704-3p	CLIP-seq
MIRT2665713	hsa-miR-4723-3p	CLIP-seq
MIRT2665714	hsa-miR-4742-5p	CLIP-seq
MIRT2665715	hsa-miR-4749-3p	CLIP-seq
MIRT2665716	hsa-miR-4755-5p	CLIP-seq
MIRT2665717	hsa-miR-4762-5p	CLIP-seq
MIRT2665719	hsa-miR-4786-5p	CLIP-seq
MIRT1506634	hsa-miR-4789-3p	CLIP-seq
MIRT2665720	hsa-miR-4799-5p	CLIP-seq
MIRT2665721	hsa-miR-494	CLIP-seq
MIRT2665722	hsa-miR-548a-3p	CLIP-seq
MIRT2665723	hsa-miR-548e	CLIP-seq
MIRT2665724	hsa-miR-548f	CLIP-seq
MIRT2665725	hsa-miR-550b	CLIP-seq
MIRT1506637	hsa-miR-603	CLIP-seq
MIRT2665726	hsa-miR-606	CLIP-seq
MIRT2665727	hsa-miR-607	CLIP-seq
MIRT2665728	hsa-miR-623	CLIP-seq
MIRT2665729	hsa-miR-631	CLIP-seq
MIRT2665730	hsa-miR-637	CLIP-seq
MIRT2665731	hsa-miR-661	CLIP-seq
MIRT2665732	hsa-miR-671-5p	CLIP-seq
MIRT2665733	hsa-miR-769-5p	CLIP-seq
MIRT2665734	hsa-miR-874	CLIP-seq
MIRT2665735	hsa-miR-888	CLIP-seq
MIRT2665736	hsa-miR-938	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	25416956, 26871637, 31515488, 32296183
GO:0005634	Component	Nucleus	IBA	21873635
GO:0005634	Component	Nucleus	IDA	23623388, 26056227
GO:0005737	Component	Cytoplasm	IDA	23623388
GO:0007399	Process	Nervous system development	IDA	23623388
GO:0007528	Process	Neuromuscular junction development	ISS
GO:0021522	Process	Spinal cord motor neuron differentiation	ISS
GO:0045211	Component	Postsynaptic membrane	IDA	23623388
GO:0045666	Process	Positive regulation of neuron differentiation	IBA	21873635
GO:0045666	Process	Positive regulation of neuron differentiation	IMP	26056227
GO:0046872	Function	Metal ion binding	IEA

Other IDs

• MIM: 300897
• HGNC: 24931
• e!Ensembl: ENSG00000126970

Protein

• UniProt ID: Q9NQZ6
• Protein name: Zinc finger C4H2 domain-containing protein (Hepatocellular carcinoma-associated antigen 127)
• Protein function: Plays a role in interneurons differentiation (PubMed:26056227). Involved in neuronal development and in neuromuscular junction formation.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF10146	zf-C4H2	13 → 147	Zinc finger-containing protein	Family
  PF10146	zf-C4H2	138 → 221	Zinc finger-containing protein	Family

• Tissue specificity: TISSUE SPECIFICITY: Expressed in fetal tissues, including in brain, intestine, lung, kidney and muscle (PubMed:23623388). Isoform 1 is expressed in numerous fetal brain regions. Isoform 3 is highly expressed in numerous fetal brain regions and spinal cord
• Sequence:

  MADEQEIMCKLESIKEIRNKTLQMEKIKARLKAEFEALESEERHLKEYKQEMDLLLQEKM
  AHVEELRLIHADINVMENTIKQSENDLNKLLESTRRLHDEYKPLKEHVDALRMTLGLQRL
  PDLCEEEEKLSLDYFEKQKAEWQTEPQEPPIPESLAAAAAAAQQLQVARKQDTRQTATFR
  QQPPPMKACLSCHQQIHRNAPICPLCKAKSRSRNPKKPKRKQDE

• Sequence length: 224

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Arthrogryposis multiplex congenita	Arthrogryposis, Arthrogryposis multiplex congenita, distal, X-linked	rs1586285494, rs80358233, rs137853305, rs1559154278, rs398124167, rs398124172, rs587780399, rs786204576, rs786204430, rs769345284, rs749355583, rs793888524, rs793888525, rs878854368, rs555445835, rs758105619, rs886041851, rs794727136, rs755239192, rs760715690, rs773952935, rs112610938, rs1057516676, rs1057516996, rs780022652, rs1057517399, rs1057517360, rs1057518353, rs1057517977, rs1064796311, rs779232987, rs775997446, rs1064797093, rs1064797094, rs1064797095, rs755500591, rs754272530, rs758247804, rs200731870, rs747179265, rs1553740233, rs776569219, rs375628303, rs775631800, rs781667543, rs1553548666, rs928945364, rs763364977, rs1458048713, rs1553883480, rs1472403020, rs1336053002, rs202048855, rs1197561990, rs755531536, rs1554112524, rs762133567, rs1553555882, rs934111355, rs1255744452, rs1366269616, rs1555734932, rs1553548207, rs752582527, rs1257495033, rs113525641, rs755863625, rs374929094, rs539819851, rs1366853918, rs1218073575, rs1553537512, rs1553552384, rs747564597, rs776059611, rs756726488, rs1357811155, rs1553939600, rs772009599, rs1255445731, rs1011425121, rs1553561697, rs1553551748, rs1553552413, rs760935667, rs1553603400, rs1302373559, rs1389892619, rs1553710982, rs757157808, rs1180339426, rs761964375, rs1235589246, rs1443738549, rs1553934586, rs1553934597, rs1553603437, rs749452641, rs1553904694, rs754369875, rs112517981, rs774495973, rs1428597732, rs746999970, rs113091511, rs1553603958, rs1553469502, rs770797137, rs1553608621, rs1159756073, rs776167256, rs778593702, rs1553601066, rs1553689774, rs760768475, rs1559296376, rs201636991, rs1559039815, rs748922882, rs772366030, rs1207534366, rs1259297878, rs762780413, rs1559360386, rs1559940778, rs760200697, rs1344099907, rs750900690, rs1559168230, rs746177326, rs761067911, rs1323364980, rs537560378, rs1319778592, rs1340063197, rs1577833924, rs750585238, rs1600470099, rs1575714905, rs1576203853, rs779909544, rs760124743, rs2096362304, rs1212374733, rs1490309743, rs767709270, rs1374971806, rs2096491549, rs2097886912, rs2099021112, rs2097758221, rs1474341248, rs925947627	23623388
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074
Mental retardation	Mild Mental Retardation	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315, rs121918316, rs397515320, rs121434489, rs1585215916, rs267607233, rs267606752, rs137852214, rs606231193, rs132630297, rs80338758, rs137852815, rs122455132, rs28935171, rs122453113, rs122445108, rs28934904, rs28934908, rs28935468, rs61748421, rs121918624, rs202060209, rs80338708, rs113994198, rs199422192, rs387906635, rs1554770064, rs1057519611, rs1060499526, rs387906636, rs1057519612, rs281875189, rs281875322, rs387906799, rs387906804, rs875989800, rs797045262, rs387906845, rs387906846, rs876657378, rs281875227, rs281875228, rs281875229, rs281875230, rs387906861, rs370667926, rs387906932, rs387906943, rs1557612719, rs387907190, rs387907191, rs2126499522, rs587776908, rs1560982564, rs80359505, rs398123009, rs587776929, rs587776930, rs397514555, rs398122824, rs398122825, rs397514556, rs2147483647, rs587776937, rs397514627, rs397514655, rs397514656, rs730882192, rs1587520018, rs1581995953, rs1554121970, rs1581987445, rs397514670, rs376395543, rs137854128, rs397509411, rs397509412, rs397514741, rs398122394, rs879255516, rs397518483, rs398122406, rs398122412, rs398123561, rs200667343, rs587777162, rs587777202, rs62507350, rs587777219, rs587777225, rs587777226, rs587779750, rs587777326, rs587777334, rs281875332, rs587780470, rs587780474, rs587780486, rs587777378, rs587777406, rs587777408, rs587777409, rs587777411, rs587777522, rs527236034, rs527236035, rs267608571, rs267608382, rs267608597, rs61753979, rs61751444, rs267608493, rs587777644, rs587777645, rs587777646, rs587777703, rs587779388, rs606231266, rs606231267, rs672601340, rs606231268, rs672601341, rs606231269, rs672601342, rs606231270, rs606231271, rs606231272, rs606231273, rs587784566, rs587784092, rs587783749, rs587783747, rs587783640, rs587783483, rs606231456, rs606231457, rs606231458, rs606231459, rs672601370, rs672601369, rs672601371, rs672601367, rs672601366, rs672601365, rs672601364, rs672601363, rs672601362, rs672601376, rs672601377, rs672601378, rs724159949, rs724159950, rs724159948, rs724159956, rs724159953, rs727502860, rs727502861, rs730882197, rs749995448, rs786205143, rs794726770, rs1135401808, rs786205583, rs786205595, rs786205859, rs794727792, rs794727928, rs794729221, rs797044519, rs797044523, rs797044521, rs797044524, rs797044526, rs797044522, rs797044520, rs794727642, rs796052719, rs781746113, rs796052510, rs796052733, rs796052724, rs796052728, rs796052676, rs796053353, rs796053366, rs796053368, rs1555103986, rs1555110818, rs796052571, rs1555110843, rs796052626, rs796052618, rs796053290, rs796052217, rs672601368, rs797045164, rs797044961, rs797044962, rs200070245, rs797044963, rs869320675, rs869320676, rs797045012, rs752746786, rs797044885, rs797044925, rs797044854, rs797044849, rs797044930, rs797044901, rs797044918, rs797044884, rs797045177, rs797045178, rs797045050, rs797045036, rs797045053, rs797045047, rs797045037, rs797045042, rs797045041, rs879255261, rs782397980, rs797045263, rs797045264, rs797045655, rs797045586, rs545185248, rs797046031, rs797046028, rs797046029, rs797046030, rs797045249, rs797045529, rs797045952, rs797045984, rs797045540, rs797045539, rs797045989, rs863224930, rs869025202, rs863225264, rs863225077, rs876661308, rs869025222, rs864309560, rs758252808, rs745756308, rs869025286, rs869025287, rs869025578, rs143038880, rs869025579, rs869025580, rs869025581, rs869312704, rs869312674, rs869312677, rs869312689, rs869312693, rs869312698, rs869312708, rs869312711, rs869312826, rs869312825, rs869312824, rs869312823, rs758432471, rs869312821, rs761993070, rs869312844, rs869312842, rs869312843, rs869312841, rs869312847, rs869320632, rs869312955, rs773432002, rs869320713, rs869320772, rs869320773, rs879255270, rs875989848, rs875989849, rs1716457622, rs2108414289, rs878854401, rs875989786, rs1085307109, rs1085307108, rs876657679, rs876661167, rs876661076, rs876661055, rs876661219, rs876661064, rs876661151, rs876661041, rs200440467, rs876661295, rs878853045, rs878853143, rs878853142, rs878853149, rs1555910048, rs878853152, rs878853146, rs878853145, rs878853141, rs878853151, rs878853144, rs878853148, rs878853147, rs878853251, rs878853269, rs879253762, rs886037841, rs879253888, rs879253931, rs879254016, rs879255618, rs879255619, rs879255620, rs886037847, rs879255621, rs886039332, rs746177928, rs886039520, rs886041003, rs886041058, rs750035706, rs886041059, rs886041060, rs886041061, rs886041090, rs886041088, rs886041089, rs886041095, rs886041097, rs886041989, rs886041944, rs886041692, rs886041593, rs886041687, rs886041207, rs886041309, rs886041239, rs886041448, rs138336847, rs149644940, rs886041295, rs886041521, rs886041125, rs886042041, rs886041238, rs886041469, rs886041197, rs886041291, rs886041658, rs886041705, rs886041876, rs139716296, rs1057516030, rs1057517408, rs749655461, rs141179774, rs370916968, rs1057517676, rs1057517933, rs1057517708, rs1057518352, rs1057518183, rs1057518474, rs1057518204, rs1057517825, rs1057518796, rs1057518961, rs1057518772, rs1057518988, rs1057519004, rs1057518700, rs772450541, rs371310428, rs1057519019, rs1057519491, rs1057519546, rs1057519560, rs1057519565, rs1057519400, rs1057519402, rs1057519405, rs1057519593, rs1057519594, rs1057519628, rs1556912828, rs1060505029, rs1060505030, rs147001633, rs1057519947, rs1057519617, rs1057524832, rs774592932, rs797045045, rs1039571136, rs1555910821, rs1060499626, rs1060499655, rs1554770185, rs1060499936, rs1060501153, rs1060501151, rs1064792984, rs1060503378, rs1060503386, rs1060503383, rs1060500046, rs1064792999, rs1060505033, rs1064796564, rs1064797002, rs1064793161, rs150802299, rs1064796830, rs1064794996, rs1064795444, rs1064796034, rs1064796403, rs1064794979, rs1064796765, rs1064793539, rs760933323, rs1064793546, rs1064796406, rs1064796367, rs780441716, rs1064794894, rs1064796023, rs1064797355, rs1085307484, rs1064794935, rs1085307547, rs1131690804, rs757511770, rs1131691875, rs1131691979, rs398122823, rs1131691866, rs1131692159, rs1131692228, rs1131692154, rs113331868, rs1554121872, rs1554121875, rs926027867, rs1554122123, rs1554122129, rs1287121256, rs1554122526, rs1554123982, rs1554385102, rs1554385111, rs1554385305, rs1554386687, rs1554389088, rs1554402092, rs1554434435, rs1135401778, rs1135401760, rs1135401770, rs1135401771, rs1135401768, rs1135401779, rs1135401805, rs1135401797, rs1135401799, rs1135401816, rs1135401823, rs1135401824, rs1555769968, rs1135401825, rs1135401955, rs1135401956, rs1135401957, rs1135401958, rs1554129040, rs1554150543, rs1553188463, rs1553146165, rs1485978447, rs1361547443, rs750079325, rs369692236, rs1554231836, rs749188610, rs1554122735, rs1554689877, rs1174482090, rs781053477, rs1554623112, rs1555409836, rs1555411305, rs770014321, rs1555984461, rs1555990958, rs762292772, rs1554944271, rs1057524157, rs1485749468, rs1555984343, rs1293450628, rs373584239, rs1553722309, rs1553738686, rs1376334317, rs1553722294, rs1553283831, rs1554120589, rs1555985554, rs1555877287, rs1555411378, rs750922282, rs1553264873, rs1554263326, rs1554264268, rs1554263626, rs1554263625, rs766614772, rs1553620494, rs1555050158, rs1555050165, rs1555050171, rs1555050174, rs765556214, rs1402086660, rs1554645052, rs1555661648, rs1293246328, rs749494995, rs775592405, rs1553265189, rs1553242856, rs1553247374, rs1553241570, rs1553997065, rs1553998565, rs1380822792, rs1555028154, rs1555023232, rs1553194155, rs1553130904, rs1553152590, rs1553567864, rs1553638614, rs120074160, rs1554486894, rs1554767754, rs1554843977, rs1555443581, rs1555443600, rs1555439545, rs1555525088, rs770680174, rs1555889130, rs373178770, rs1555985532, rs1553519853, rs781325598, rs1410587479, rs1553638086, rs150259543, rs1554093891, rs1554121228, rs1554120498, rs1554121189, rs1212517874, rs1554770628, rs1555979158, rs1554770054, rs771610568, rs1451230055, rs1554770624, rs1555906707, rs1555906768, rs1555906781, rs1555907620, rs1555907623, rs1555907626, rs1555907653, rs1555907864, rs1554094145, rs1554202698, rs1554200722, rs773327091, rs1555607621, rs1555604778, rs1555607159, rs1555607682, rs1553364018, rs1553324416, rs1555411394, rs1554102556, rs1554122363, rs1555705966, rs1555103971, rs1555408401, rs1554461593, rs1554304254, rs1554120978, rs1047509819, rs1555982601, rs767774867, rs1554789246, rs1555111511, rs1555950676, rs1555954380, rs1555985649, rs1553194162, rs1553518509, rs1274633498, rs1554274371, rs1554122252, rs1554122458, rs1554122729, rs1554297905, rs1554776342, rs1554770046, rs1554770667, rs1554792556, rs1452715535, rs1555444885, rs1555534147, rs1427624649, rs1555611722, rs1555744282, rs1555706391, rs1178702025, rs1555984102, rs1554770589, rs1554121443, rs1559791842, rs1559824939, rs1555889127, rs1236702036, rs1553510280, rs1553511175, rs1553511226, rs1554150552, rs1554275163, rs1554201137, rs1553517991, rs1553518511, rs1553517984, rs1553518752, rs1554119814, rs1554122293, rs1554122341, rs1554122689, rs1554770243, rs1554770444, rs1557045250, rs959316981, rs1556270312, rs1553270640, rs978179634, rs1554093884, rs1491240980, rs1555943484, rs1554121453, rs1334099693, rs1554048616, rs1555660806, rs1555644480, rs1555651572, rs1567844992, rs1567855081, rs1567855669, rs1567855704, rs1567856045, rs1567856331, rs1567860075, rs1567860112, rs1567860640, rs1567860891, rs754919272, rs1567860919, rs1567861468, rs1567861489, rs1567861501, rs1567861894, rs1567863732, rs1567864750, rs1567877108, rs1567878511, rs758785463, rs1553808301, rs1553245038, rs1553789166, rs1553813646, rs1553631860, rs1554121265, rs1554770262, rs1555034768, rs1555984433, rs779009256, rs1553994814, rs1553996086, rs1553996072, rs1553270599, rs1553153291, rs760262127, rs1554119274, rs1554121878, rs1554387293, rs1554385203, rs757077698, rs750612085, rs1554776500, rs1564360978, rs1554776933, rs1554776938, rs1565278132, rs1567368243, rs1558478047, rs375695605, rs1558479778, rs1558501648, rs1565240833, rs114727354, rs1557591264, rs1557620758, rs1559099927, rs1561788984, rs369459721, rs1563831738, rs1562159088, rs1562159562, rs1562159599, rs1559094754, rs1559328283, rs755634856, rs1561784687, rs1554122296, rs1561789313, rs1562720119, rs1564363665, rs1561697465, rs1561785003, rs1561787845, rs1561789215, rs1554122305, rs1561784553, rs1561784560, rs1561787690, rs1554122888, rs749632782, rs1567139896, rs1569370887, rs1569371303, rs1564493599, rs1561875779, rs1569146542, rs1569146649, rs1275489527, rs1560115921, rs1468772495, rs749969789, rs1560108090, rs1569376809, rs1569355102, rs1560103306, rs1564365418, rs1559855453, rs1562928193, rs1558149913, rs1253072668, rs141976414, rs1558371790, rs1557898800, rs1567758622, rs1567844041, rs1567844114, rs1567920106, rs1567920209, rs138247472, rs1567974030, rs1567995650, rs1283838287, rs1568003569, rs1568006217, rs1568018905, rs1562505675, rs1561783309, rs1555980234, rs1559087186, rs1560966086, rs1560330387, rs769471341, rs1562493608, rs1562505335, rs1554121861, rs1554122200, rs1562957809, rs1568097623, rs1391600900, rs1568234874, rs1568235086, rs1555990955, rs1567870541, rs1557570794, rs1562869207, rs1571818248, rs1431778557, rs369691608, rs1595808957, rs1597665063, rs1597846084, rs1603401125, rs1603350606, rs1601946481, rs1601932069, rs1602880906, rs1602308324, rs1574554519, rs1573882268, rs1603198937, rs1558148010, rs1558498928, rs1569459580, rs1569380375, rs1560062082, rs1557889974, rs1558414255, rs756429763, rs781663444, rs1569016820, rs1569017025, rs1569017160, rs1557612048, rs1568504941, rs1581987022, rs1576983339, rs1599892470, rs1265340906, rs1602284689, rs1574949440, rs1576220938, rs1576280892, rs1576288424, rs1574459612, rs1574511051, rs1575654528, rs1577094794, rs1294683568, rs771819481, rs1580984895, rs1581338441, rs1580988138, rs1581980317, rs1581986872, rs1554121207, rs1581987268, rs1581987476, rs1581987885, rs763770519, rs1581991929, rs1581992099, rs1581992998, rs1581995453, rs1554122242, rs1581996778, rs1581997228, rs1588735247, rs1555980467, rs1555985742, rs1601319086, rs1601970168, rs1574451881, rs876661168, rs1576994053, rs1573589807, rs1581036396, rs1601267617, rs1572531830, rs1573483715, rs1590954686, rs1601315812, rs1573965358, rs1573972562, rs529087882, rs1570609440, rs1598940393, rs1575333081, rs1576028676, rs1596476657, rs1599375711, rs1603290366, rs1603060007, rs1603069440, rs1592939069, rs1591612223, rs2062994512, rs373701249, rs1600471396, rs1600501018, rs1600504088, rs1600514073, rs748436953, rs765723607, rs758170522, rs1561785045, rs1357591960, rs1591609136, rs1596891223, rs1579370234, rs2047850664, rs1579109565, rs1870202051, rs1574887674, rs778229060, rs1572531281, rs1570622663, rs1573501865, rs1576086299, rs1576164991, rs1574907198, rs1576656734, rs1554121438, rs1581995425, rs1581996813, rs1582001015, rs1588324025, rs1591371152, rs1590008294, rs1590956245, rs1590028691, rs1591606580, rs1591611001, rs1591612317, rs1591612370, rs763436882, rs997044541, rs1595897117, rs747706524, rs1579377990, rs1201878175, rs1894051550, rs1572531730, rs1579576029, rs1577017863, rs752545577, rs1582461267, rs1589460606, rs1588727276, rs1598620094, rs1599368323, rs1600082188, rs1601319352, rs1598226304, rs2076013475, rs2076017638, rs1600596180, rs1554121932, rs1680676671, rs1570607996, rs1382444181, rs1570640673, rs1574994308, rs1596667777, rs1602226289, rs1595629181, rs1595609005, rs1227643933, rs1572705473, rs1570621899, rs1722830922, rs1575094649, rs1417035592, rs1581997098, rs1589457762, rs1598211790, rs758726258, rs1601071971, rs863224922, rs1586692481, rs1586692548, rs1586692551, rs1580988074, rs1594129609, rs1588732344, rs1579368865, rs1586660389, rs1586660370, rs1586660338, rs1586657848, rs1586660381, rs1791701214, rs752676391, rs1680673822, rs758098717, rs1726676630, rs762288077, rs1759964009, rs1760905766, rs1761021165, rs1554121934, rs2055849544, rs1049773, rs587784300, rs1861628072, rs1761241410, rs1064797322, rs1948652423, rs2059194330, rs1777174302, rs2054280202, rs2081190512, rs772665884, rs1400164869, rs1861593395, rs1760897843, rs1761087122, rs1388355040, rs2068797192, rs1777175608, rs376898131
Microcephaly	Microcephaly	rs397704721, rs267607176, rs267607177, rs397704725, rs267606717, rs267606718, rs199422202, rs121434311, rs199422203, rs199422126, rs387906274, rs121434305, rs199422125, rs199422135, rs189678019, rs199422184, rs137852994, rs137852995, rs137852996, rs137852997, rs145489194, rs80338860, rs137852494, rs121918609, rs199422207, rs199422206, rs29001566, rs864321658, rs199422138, rs199422139, rs199422141, rs199422144, rs199422147, rs199422151, rs199422152, rs199422153, rs199422157, rs199422159, rs199422160, rs199422161, rs140602858, rs199422164, rs199422165, rs148294838, rs199422134, rs199422168, rs199422172, rs199422173, rs199422131, rs199422177, rs199422180, rs199422185, rs199422186, rs199422187, rs143931757, rs199422189, rs199422192, rs199422194, rs199422195, rs199422196, rs199422197, rs199422199, rs753597039, rs1488084787, rs387906961, rs755862917, rs387907082, rs587776899, rs387907083, rs587776900, rs587776901, rs387907084, rs863223322, rs764201220, rs202247811, rs763915472, rs587776986, rs587777036, rs398122971, rs374351172, rs373278668, rs398122976, rs121909123, rs587783393, rs730882076, rs587783211, rs144716013, rs606231255, rs587783215, rs587783216, rs587783220, rs587783221, rs587783225, rs587783227, rs587783228, rs587783230, rs587783238, rs587783239, rs587783240, rs587783245, rs587783247, rs587783248, rs587783258, rs587783259, rs587783263, rs587783265, rs587783268, rs587783269, rs587783272, rs587783275, rs587783277, rs587783278, rs587783280, rs587783282, rs587783283, rs587783285, rs587783287, rs587783288, rs587783289, rs587783292, rs587783295, rs587784452, rs587783741, rs587783735, rs587783392, rs587783390, rs587783387, rs587783410, rs202058504, rs587783423, rs587783421, rs587783414, rs587784553, rs587784558, rs587784546, rs587784549, rs587784554, rs587784412, rs876661307, rs869025200, rs747831095, rs748529285, rs797045316, rs797045315, rs797045314, rs759632528, rs797045313, rs797045311, rs754282058, rs797045441, rs797045454, rs797045430, rs869312853, rs797046109, rs767399782, rs863225127, rs863225464, rs863225465, rs780270096, rs864321621, rs864321620, rs775277800, rs879253817, rs869312824, rs761447719, rs753406334, rs147622433, rs199422137, rs879255522, rs879255524, rs879255523, rs886037892, rs886037893, rs886037894, rs886037895, rs199422169, rs886041709, rs886041282, rs138228629, rs759188041, rs769688376, rs1057517688, rs1057519087, rs1057518268, rs933106143, rs201362977, rs754909135, rs1057520873, rs1060499758, rs1060499757, rs199422146, rs748016594, rs1085307120, rs763715733, rs1064795945, rs763800571, rs1554728351, rs1553227021, rs555866170, rs1553895368, rs1334947797, rs769818500, rs1321892596, rs1553227645, rs1404276011, rs1553228275, rs1554471681, rs1554496609, rs1555420891, rs1555418825, rs587784548, rs1555723585, rs199736219, rs745997770, rs765275884, rs1553924800, rs1554730137, rs1229568621, rs1482100822, rs979186313, rs758157294, rs1555294652, rs1555299107, rs1553264033, rs1553259539, rs1553254322, rs1553259528, rs981349334, rs1553264036, rs1553253022, rs754267846, rs776034810, rs1342429887, rs752140135, rs1006898944, rs571640983, rs1477524771, rs763909256, rs199910503, rs1553223496, rs759663956, rs1553446603, rs1555139372, rs1555143325, rs1350194762, rs1555141158, rs1553225179, rs769481947, rs769364943, rs748011724, rs1334301723, rs746341112, rs149225624, rs765113367, rs1567024512, rs142865061, rs772050241, rs201721894, rs1557966012, rs1379578836, rs1568334868, rs1185537869, rs1602333390, rs1163303148, rs774338373, rs770540184, rs1571600045, rs1571601267, rs1571602991, rs1588472215, rs1599841026, rs1558328287, rs1571600860, rs1571596976, rs1309880692, rs1435239428, rs1588634016, rs1751797979, rs1810830776, rs1815354949, rs1949984655, rs886039658, rs1943461045, rs777711720, rs2031759596, rs1555710223, rs1221031683, rs774069989, rs2058919680, rs1170413397, rs1213710245, rs1599851667, rs1599760058, rs1971033478, rs746967357	26056227
Microlissencephaly	Microlissencephaly	rs771116788	26056227
Multiple congenital anomalies	Multiple congenital anomalies	rs1057517732	26056227, 23623388
Scoliosis	Scoliosis, unspecified	rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085
Wieacker-wolff syndrome	Wieacker-Wolff syndrome	rs398122938, rs879255235, rs398122939, rs879255236, rs1057520297, rs1057520298, rs1057520299, rs1064795753, rs1131691616, rs137962226, rs1555933616, rs1555945816, rs750367160, rs1260869746, rs1602379828, rs1929207873, rs1929135614, rs1929002470, rs1929070198, rs1929216641	23623388, 26056227

Unknown
Disease term	Disease name	Evidence	References	Source
Distal amyotrophy	Distal amyotrophy			ClinVar
Ptosis	Blepharoptosis, Ptosis			ClinVar
Wieacker-Wolff Syndrome	Wieacker-Wolff syndrome, female-restricted			GenCC
Hypogonadism	Hypogonadism			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Arthrogryposis	Associate	33949289
Demyelinating Diseases	Associate	33949289
Duane Retraction Syndrome	Associate	33949289
Marcus Gunn phenomenon	Associate	33949289
Mental Retardation X Linked	Associate	21668950
Paraplegia	Associate	38267061
Wieacker syndrome	Associate	31885220, 33949289