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
• 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:0003358	Process	Noradrenergic neuron development	IEA
GO:0005515	Function	Protein binding	IPI	16189514, 25416956, 26871637, 30177510, 31515488, 32296183, 33961781
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	23623388, 26056227
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IDA	23623388
GO:0005737	Component	Cytoplasm	IEA
GO:0005886	Component	Plasma membrane	IEA
GO:0006513	Process	Protein monoubiquitination	IEA
GO:0006513	Process	Protein monoubiquitination	IGI	32094113
GO:0007399	Process	Nervous system development	IDA	23623388
GO:0007528	Process	Neuromuscular junction development	ISS
GO:0008270	Function	Zinc ion binding	IEA
GO:0016020	Component	Membrane	IEA
GO:0021522	Process	Spinal cord motor neuron differentiation	ISS
GO:0030154	Process	Cell differentiation	IEA
GO:0032991	Component	Protein-containing complex	IDA	30177510
GO:0043025	Component	Neuronal cell body	IEA
GO:0045202	Component	Synapse	IEA
GO:0045211	Component	Postsynaptic membrane	IDA	23623388
GO:0045211	Component	Postsynaptic membrane	IEA
GO:0045666	Process	Positive regulation of neuron differentiation	IBA
GO:0045666	Process	Positive regulation of neuron differentiation	IMP	26056227
GO:0046872	Function	Metal ion binding	IEA
GO:0051091	Process	Positive regulation of DNA-binding transcription factor activity	IGI	32094113
GO:2000677	Process	Regulation of transcription regulatory region DNA binding	IGI	32094113

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

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
Neurodevelopmental disorder	Likely pathogenic	rs398122939	RCV001374903	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nonpapillary renal cell carcinoma	Likely pathogenic	rs2147349618	RCV005917531	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thyroid cancer, nonmedullary, 1	Likely pathogenic; Pathogenic	rs1260869746	RCV005901425	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Wieacker-Wolff syndrome	Likely pathogenic; Pathogenic	rs2147349682, rs1057520297, rs1057520298, rs1057520299, rs1131691616, rs137962226, rs1555933616, rs1555945816, rs750367160, rs1260869746, rs398122938, rs879255235, rs398122939, rs879255236, rs1602379828, rs1929002470, rs1929006117, rs1929007323, rs1929136990, rs1931569117, rs1929057804	RCV001809225 RCV000425925 RCV000444927 RCV000426615 RCV000763627 RCV001007949 RCV001375995 RCV000578447 RCV000625911 RCV000660640 RCV000043676 RCV000043677 RCV000043678 RCV000043679 RCV000850369 RCV001034718 RCV001197017 RCV001195861 RCV001254723 RCV001255627 RCV001267690	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Wieacker-Wolff syndrome (spectrum)	Likely pathogenic; Pathogenic	rs137962226, rs879255236	RCV006249643 RCV006249574	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Wieacker-Wolff syndrome, female-restricted	Pathogenic; Likely pathogenic	rs2147345743, rs137962226, rs2519690121, rs2519696329, rs2519693665, rs1064795753, rs1131691616, rs879255235, rs1929207873, rs1929135614, rs1929070198, rs1929216641	RCV001788550 RCV002074480 RCV002306282 RCV002468813 RCV003333357 RCV001034716 RCV002527090 RCV002496910 RCV001770066 RCV001034715 RCV001034717 RCV001034720 RCV001034721	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
ZC4H2-related disorder	Likely pathogenic	rs1555933616	RCV004758699	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
ZC4H2-related X-linked intellectual disability	Likely pathogenic; Pathogenic	rs1057520298	RCV001796034	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, X-LINKED	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Genetic developmental and epileptic encephalopathy	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOGONADISM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MICROCEPHALY	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MILES-CARPENTER X-LINKED INTELLECTUAL DEVELOPMENTAL DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARTINGTON SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WIEACKER SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
X-LINKED SYNDROMIC INTELLECTUAL DISABILITY	—	ClinGen, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acrocephalopolysyndactyly type 2	Carpenter syndrome	BEFREE	28345801		★☆☆☆☆ Found in Text Mining only
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	3855666		★☆☆☆☆ Found in Text Mining only
Adult Acute Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	3855666		★☆☆☆☆ Found in Text Mining only
Akinesia	Akinesia	BEFREE	31206972		★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	BEFREE	31255504		★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	BEFREE	27624747, 30302664, 31070268, 31428028, 31619069		★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	BEFREE	27624747, 30302664, 31070268, 31428028, 31619069		★☆☆☆☆ Found in Text Mining only
Aortic Valve Insufficiency	Aortic Valve Insufficiency	BEFREE	28128540		★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	26717272		★☆☆☆☆ Found in Text Mining only
Arthrogryposis	Arthrogryposis multiplex congenita	BEFREE	23623388, 29254829, 29803542, 31206972		★☆☆☆☆ Found in Text Mining only
Arthrogryposis	Arthrogryposis	Pubtator	33949289	Associate	★☆☆☆☆ Found in Text Mining only
Arthrogryposis	Arthrogryposis multiplex congenita	HPO_DG			★☆☆☆☆ Found in Text Mining only
Arthrogryposis multiplex congenita, distal, X-linked	Arthrogryposis multiplex congenita	CTD_human_DG	23623388		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARTHROGRYPOSIS MULTIPLEX CONGENITA, NEUROGENIC TYPE (disorder)	Neurogenic arthrogryposis multiplex congenita	BEFREE	31206972		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	26717272		★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	9790431		★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	28091591		★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	3855666		★☆☆☆☆ Found in Text Mining only
Chronic kidney disease stage 5	Kidney Disease	BEFREE	28682731		★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	28601868		★☆☆☆☆ Found in Text Mining only
Clinodactyly of the 5th finger	Camptodactyly of fingers	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital anomaly of brain	Brain malformation	BEFREE	12849864		★☆☆☆☆ Found in Text Mining only
Congenital Camptodactyly	Congenital Camptodactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital clubfoot	Congenital Clubfoot	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital foot contractures	Congenital foot contraction deformities	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	30945637		★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	31722696		★☆☆☆☆ Found in Text Mining only
Demyelinating Diseases	Demyelinating diseases	Pubtator	33949289	Associate	★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	27624747, 28918761, 29620945, 29680420, 30049991, 30302664, 30587146, 31070268, 31140392, 31755818		★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	31428028		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	31428028		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	31428028		★☆☆☆☆ Found in Text Mining only
Distal amyotrophy	Distal amyotrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Duane Retraction Syndrome	Duane retraction syndrome	Pubtator	33949289	Associate	★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	CLINVAR_DG	23623388, 26056227		★☆☆☆☆ Found in Text Mining only
Dystonia Disorders	Dystonia	BEFREE	31336385		★☆☆☆☆ Found in Text Mining only
Exotropia	Exotropia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Facial paralysis	Facial paralysis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Fatty Liver Disease	Fatty Liver	BEFREE	29278707		★☆☆☆☆ Found in Text Mining only
Freeman-Sheldon syndrome	Freeman-Sheldon Syndrome	BEFREE	29902472		★☆☆☆☆ Found in Text Mining only
Fukuyama Type Congenital Muscular Dystrophy	Fukuyama Type Congenital Muscular Dystrophy	BEFREE	9915951		★☆☆☆☆ Found in Text Mining only
Giant Cell Arteritis	Giant Cell Arteritis	BEFREE	30786937		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	31336385		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	30945637		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	23623388, 28814648, 29254829, 29803542, 31336385		★☆☆☆☆ Found in Text Mining only
Intellectual disability-developmental delay-contractures syndrome	Intellectual Disability-Developmental Delay-Contractures Syndrome	Orphanet			★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	31190776		★☆☆☆☆ Found in Text Mining only
Kidney Failure, Chronic	Kidney Failure	BEFREE	28682731		★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	BEFREE	28045352, 30406869		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	28084722, 30612249, 31755818		★☆☆☆☆ Found in Text Mining only
Manic	Manic Disorder	BEFREE	28918761		★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	27624747, 28918761, 29620945, 30049991, 30302664, 30587146, 31070268, 31140392, 31755818		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	CTD_human_DG	26056227		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly	Microcephaly	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Micrognathism	Micrognathism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Microlissencephaly	Microlissencephaly	CTD_human_DG	26056227		★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	BEFREE	30203163		★☆☆☆☆ Found in Text Mining only
Mild Mental Retardation	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
MILES-CARPENTER X-LINKED MENTAL RETARDATION SYNDROME	MILES-CARPENTER X-Linked MENTAL RETARDATION SYNDROME	CTD_human_DG	26056227		★☆☆☆☆ Found in Text Mining only
Mixed anxiety and depressive disorder	Mixed Anxiety And Depressive Disorder	BEFREE	28898460, 31070268		★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement Disorders	HPO_DG			★☆☆☆☆ Found in Text Mining only
Multiple congenital anomalies	Multiple Congenital Anomalies	CLINVAR_DG	23623388, 26056227		★☆☆☆☆ Found in Text Mining only
Muscle eye brain disease	Muscle Eye Brain Disease	BEFREE	11320179, 12849864		★☆☆☆☆ Found in Text Mining only
Nonalcoholic Steatohepatitis	Non-alcoholic Fatty Liver Disease	BEFREE	29278707		★☆☆☆☆ Found in Text Mining only
Oculomotor apraxia	Oculomotor apraxia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Oculovestibuloauditory syndrome	Oculovestibuloauditory Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	28084722		★☆☆☆☆ Found in Text Mining only
Palmar hyperkeratosis	Palmar hyperkeratosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Paraplegia	Paraplegia	Pubtator	38267061	Associate	★☆☆☆☆ Found in Text Mining only
Post-Traumatic Stress Disorder	Stress Disorder	BEFREE	30909548		★☆☆☆☆ Found in Text Mining only
Prolactinoma	Prolactinoma	BEFREE	30548674		★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	BEFREE	28898460		★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Reactive hypoglycemia	Reactive hypoglycemia	BEFREE	29803542		★☆☆☆☆ Found in Text Mining only
Respiratory Distress Syndrome, Newborn	Congenital alveolar dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Restless Legs Syndrome	Restless Legs Syndrome	BEFREE	29680420		★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Severe Congenital Microcephaly	Congenital Microcephaly	CTD_human_DG	26056227		★☆☆☆☆ Found in Text Mining only
Sleep Disorders	Sleep Disorders	BEFREE	28150503		★☆☆☆☆ Found in Text Mining only
Speech Disorders	Speech Disorders	HPO_DG			★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Subarachnoid Hemorrhage	Subarachnoid hemorrhage	BEFREE	30213237		★☆☆☆☆ Found in Text Mining only
Walker-Warburg congenital muscular dystrophy	Walker-Warburg Congenital Muscular Dystrophy	BEFREE	11320179, 18752264		★☆☆☆☆ Found in Text Mining only
Wieacker syndrome	Wieacker syndrome	Pubtator	31885220, 33949289	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Wieacker-Wolff syndrome	Wieacker-Wolff Syndrome	GENOMICS_ENGLAND_DG	23623388, 26056227		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Wieacker-Wolff syndrome	Wieacker-Wolff Syndrome	ORPHANET_DG	23623388		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Wieacker-Wolff syndrome	Wieacker-Wolff Syndrome	UNIPROT_DG	23623388, 26056227		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Wieacker-Wolff syndrome	Wieacker-Wolff Syndrome	BEFREE	28345801		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Wieacker-Wolff syndrome	Wieacker-Wolff Syndrome	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Wieacker-Wolff syndrome	Wieacker-Wolff Syndrome	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)