MDFIC (MyoD family inhibitor domain containing)

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Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases Related genes Diseases linked via similar genes

Gene

• Entrez ID: 29969
• Gene name: MyoD family inhibitor domain containing
• Gene symbol: MDFIC
• Synonyms (NCBI Gene): HIC, LMPHM12, MDFIC1
• Chromosome: 7
• Chromosome location: 7q31.1-q31.2
• Summary: This gene product is a member of a family of proteins characterized by a specific cysteine-rich C-terminal domain, which is involved in transcriptional regulation of viral genome expression. Alternative translation initiation from an upstream non-AUG (GUG

miRNA Show/Hide all (199)

miRTarBase ID	miRNA	Experiments	Reference
MIRT021846	hsa-miR-132-3p	Microarray	17612493
MIRT002667	hsa-miR-124-3p	Microarray	15685193
MIRT046893	hsa-miR-221-3p	CLASH	23622248
MIRT493265	hsa-miR-497-3p	PAR-CLIP	23592263
MIRT220044	hsa-miR-548a-5p	PAR-CLIP	23592263
MIRT220055	hsa-miR-548ab	PAR-CLIP	23592263
MIRT220056	hsa-miR-548ad-5p	PAR-CLIP	23592263
MIRT220057	hsa-miR-548ae-5p	PAR-CLIP	23592263
MIRT220058	hsa-miR-548ak	PAR-CLIP	23592263
MIRT220059	hsa-miR-548am-5p	PAR-CLIP	23592263
MIRT220061	hsa-miR-548ap-5p	PAR-CLIP	23592263
MIRT220062	hsa-miR-548aq-5p	PAR-CLIP	23592263
MIRT220063	hsa-miR-548ar-5p	PAR-CLIP	23592263
MIRT220064	hsa-miR-548as-5p	PAR-CLIP	23592263
MIRT220065	hsa-miR-548au-5p	PAR-CLIP	23592263
MIRT220066	hsa-miR-548ay-5p	PAR-CLIP	23592263
MIRT220043	hsa-miR-548b-5p	PAR-CLIP	23592263
MIRT220067	hsa-miR-548bb-5p	PAR-CLIP	23592263
MIRT220045	hsa-miR-548c-5p	PAR-CLIP	23592263
MIRT220046	hsa-miR-548d-5p	PAR-CLIP	23592263
MIRT220048	hsa-miR-548h-5p	PAR-CLIP	23592263
MIRT220049	hsa-miR-548i	PAR-CLIP	23592263
MIRT220047	hsa-miR-548j-5p	PAR-CLIP	23592263
MIRT220054	hsa-miR-548o-5p	PAR-CLIP	23592263
MIRT220050	hsa-miR-548w	PAR-CLIP	23592263
MIRT220053	hsa-miR-548y	PAR-CLIP	23592263
MIRT220042	hsa-miR-559	PAR-CLIP	23592263
MIRT493264	hsa-miR-548av-5p	PAR-CLIP	23592263
MIRT493263	hsa-miR-548k	PAR-CLIP	23592263
MIRT493261	hsa-miR-8054	PAR-CLIP	23592263
MIRT493262	hsa-miR-548l	PAR-CLIP	23592263
MIRT220051	hsa-miR-3668	PAR-CLIP	23592263
MIRT220060	hsa-miR-5002-5p	PAR-CLIP	23592263
MIRT220052	hsa-miR-3935	PAR-CLIP	23592263
MIRT220041	hsa-miR-376a-2-5p	PAR-CLIP	23592263
MIRT493260	hsa-miR-487a-5p	PAR-CLIP	23592263
MIRT493259	hsa-miR-487b-5p	PAR-CLIP	23592263
MIRT493258	hsa-miR-659-3p	PAR-CLIP	23592263
MIRT493265	hsa-miR-497-3p	PAR-CLIP	23592263
MIRT220044	hsa-miR-548a-5p	PAR-CLIP	23592263
MIRT220055	hsa-miR-548ab	PAR-CLIP	23592263
MIRT220056	hsa-miR-548ad-5p	PAR-CLIP	23592263
MIRT220057	hsa-miR-548ae-5p	PAR-CLIP	23592263
MIRT220058	hsa-miR-548ak	PAR-CLIP	23592263
MIRT220059	hsa-miR-548am-5p	PAR-CLIP	23592263
MIRT220061	hsa-miR-548ap-5p	PAR-CLIP	23592263
MIRT220062	hsa-miR-548aq-5p	PAR-CLIP	23592263
MIRT220063	hsa-miR-548ar-5p	PAR-CLIP	23592263
MIRT220064	hsa-miR-548as-5p	PAR-CLIP	23592263
MIRT220065	hsa-miR-548au-5p	PAR-CLIP	23592263
MIRT220066	hsa-miR-548ay-5p	PAR-CLIP	23592263
MIRT220043	hsa-miR-548b-5p	PAR-CLIP	23592263
MIRT220067	hsa-miR-548bb-5p	PAR-CLIP	23592263
MIRT220045	hsa-miR-548c-5p	PAR-CLIP	23592263
MIRT220046	hsa-miR-548d-5p	PAR-CLIP	23592263
MIRT220048	hsa-miR-548h-5p	PAR-CLIP	23592263
MIRT220049	hsa-miR-548i	PAR-CLIP	23592263
MIRT220047	hsa-miR-548j-5p	PAR-CLIP	23592263
MIRT220054	hsa-miR-548o-5p	PAR-CLIP	23592263
MIRT220050	hsa-miR-548w	PAR-CLIP	23592263
MIRT220053	hsa-miR-548y	PAR-CLIP	23592263
MIRT220042	hsa-miR-559	PAR-CLIP	23592263
MIRT493264	hsa-miR-548av-5p	PAR-CLIP	23592263
MIRT493263	hsa-miR-548k	PAR-CLIP	23592263
MIRT493261	hsa-miR-8054	PAR-CLIP	23592263
MIRT493262	hsa-miR-548l	PAR-CLIP	23592263
MIRT220051	hsa-miR-3668	PAR-CLIP	23592263
MIRT220060	hsa-miR-5002-5p	PAR-CLIP	23592263
MIRT220052	hsa-miR-3935	PAR-CLIP	23592263
MIRT220041	hsa-miR-376a-2-5p	PAR-CLIP	23592263
MIRT493260	hsa-miR-487a-5p	PAR-CLIP	23592263
MIRT493259	hsa-miR-487b-5p	PAR-CLIP	23592263
MIRT493258	hsa-miR-659-3p	PAR-CLIP	23592263
MIRT1138461	hsa-miR-3615	CLIP-seq
MIRT1138462	hsa-miR-3692	CLIP-seq
MIRT1138463	hsa-miR-4772-3p	CLIP-seq
MIRT1138464	hsa-miR-498	CLIP-seq
MIRT1138465	hsa-miR-718	CLIP-seq
MIRT1138466	hsa-miR-891b	CLIP-seq
MIRT1138467	hsa-miR-1200	CLIP-seq
MIRT1138468	hsa-miR-1224-3p	CLIP-seq
MIRT1138469	hsa-miR-125a-3p	CLIP-seq
MIRT1138470	hsa-miR-1264	CLIP-seq
MIRT1138471	hsa-miR-1273f	CLIP-seq
MIRT1138472	hsa-miR-1305	CLIP-seq
MIRT1138473	hsa-miR-146b-3p	CLIP-seq
MIRT1138474	hsa-miR-1913	CLIP-seq
MIRT1138475	hsa-miR-197	CLIP-seq
MIRT1138476	hsa-miR-2053	CLIP-seq
MIRT1138477	hsa-miR-3157-3p	CLIP-seq
MIRT1138478	hsa-miR-3163	CLIP-seq
MIRT1138479	hsa-miR-3170	CLIP-seq
MIRT1138480	hsa-miR-3173-5p	CLIP-seq
MIRT1138481	hsa-miR-324-3p	CLIP-seq
MIRT1138482	hsa-miR-3670	CLIP-seq
MIRT1138483	hsa-miR-3915	CLIP-seq
MIRT1138484	hsa-miR-3928	CLIP-seq
MIRT1138485	hsa-miR-3942-3p	CLIP-seq
MIRT1138486	hsa-miR-411	CLIP-seq
MIRT1138487	hsa-miR-4269	CLIP-seq
MIRT1138488	hsa-miR-4282	CLIP-seq
MIRT1138489	hsa-miR-4324	CLIP-seq
MIRT1138490	hsa-miR-4423-5p	CLIP-seq
MIRT1138491	hsa-miR-4490	CLIP-seq
MIRT1138492	hsa-miR-4514	CLIP-seq
MIRT1138493	hsa-miR-4692	CLIP-seq
MIRT1138494	hsa-miR-4694-3p	CLIP-seq
MIRT1138495	hsa-miR-4710	CLIP-seq
MIRT1138496	hsa-miR-4716-5p	CLIP-seq
MIRT1138497	hsa-miR-4742-5p	CLIP-seq
MIRT1138498	hsa-miR-4774-5p	CLIP-seq
MIRT1138499	hsa-miR-5096	CLIP-seq
MIRT1138500	hsa-miR-516a-5p	CLIP-seq
MIRT1138501	hsa-miR-544b	CLIP-seq
MIRT1138502	hsa-miR-548c-3p	CLIP-seq
MIRT1138503	hsa-miR-548h	CLIP-seq
MIRT1138504	hsa-miR-548j	CLIP-seq
MIRT1138505	hsa-miR-569	CLIP-seq
MIRT1138506	hsa-miR-607	CLIP-seq
MIRT1138507	hsa-miR-659	CLIP-seq
MIRT1138508	hsa-miR-874	CLIP-seq
MIRT1138467	hsa-miR-1200	CLIP-seq
MIRT2039277	hsa-miR-194	CLIP-seq
MIRT2039278	hsa-miR-1976	CLIP-seq
MIRT2039279	hsa-miR-3149	CLIP-seq
MIRT2039280	hsa-miR-3198	CLIP-seq
MIRT2039281	hsa-miR-3199	CLIP-seq
MIRT1138461	hsa-miR-3615	CLIP-seq
MIRT2039282	hsa-miR-3665	CLIP-seq
MIRT2039283	hsa-miR-4276	CLIP-seq
MIRT2039284	hsa-miR-4279	CLIP-seq
MIRT2039285	hsa-miR-4309	CLIP-seq
MIRT1138489	hsa-miR-4324	CLIP-seq
MIRT2039286	hsa-miR-4438	CLIP-seq
MIRT2039287	hsa-miR-4653-3p	CLIP-seq
MIRT2039288	hsa-miR-4722-3p	CLIP-seq
MIRT2039289	hsa-miR-4733-5p	CLIP-seq
MIRT2039290	hsa-miR-4803	CLIP-seq
MIRT1138464	hsa-miR-498	CLIP-seq
MIRT2039291	hsa-miR-5095	CLIP-seq
MIRT1138501	hsa-miR-544b	CLIP-seq
MIRT2039292	hsa-miR-584	CLIP-seq
MIRT2039293	hsa-miR-656	CLIP-seq
MIRT2039294	hsa-miR-657	CLIP-seq
MIRT1138467	hsa-miR-1200	CLIP-seq
MIRT2269346	hsa-miR-1307	CLIP-seq
MIRT2039278	hsa-miR-1976	CLIP-seq
MIRT2269347	hsa-miR-300	CLIP-seq
MIRT2039281	hsa-miR-3199	CLIP-seq
MIRT1138461	hsa-miR-3615	CLIP-seq
MIRT2269348	hsa-miR-381	CLIP-seq
MIRT2039284	hsa-miR-4279	CLIP-seq
MIRT2269349	hsa-miR-4284	CLIP-seq
MIRT1138489	hsa-miR-4324	CLIP-seq
MIRT2039286	hsa-miR-4438	CLIP-seq
MIRT2269350	hsa-miR-4638-5p	CLIP-seq
MIRT2269351	hsa-miR-4666-3p	CLIP-seq
MIRT2039288	hsa-miR-4722-3p	CLIP-seq
MIRT1138464	hsa-miR-498	CLIP-seq
MIRT2039291	hsa-miR-5095	CLIP-seq
MIRT1138501	hsa-miR-544b	CLIP-seq
MIRT1138465	hsa-miR-718	CLIP-seq
MIRT1138466	hsa-miR-891b	CLIP-seq
MIRT2431057	hsa-miR-130a	CLIP-seq
MIRT2431058	hsa-miR-130b	CLIP-seq
MIRT2431059	hsa-miR-132	CLIP-seq
MIRT2431060	hsa-miR-148a	CLIP-seq
MIRT2431061	hsa-miR-148b	CLIP-seq
MIRT2431062	hsa-miR-152	CLIP-seq
MIRT2431063	hsa-miR-19a	CLIP-seq
MIRT2431064	hsa-miR-19b	CLIP-seq
MIRT2431065	hsa-miR-212	CLIP-seq
MIRT2431066	hsa-miR-301a	CLIP-seq
MIRT2431067	hsa-miR-301b	CLIP-seq
MIRT2431068	hsa-miR-338-5p	CLIP-seq
MIRT2431069	hsa-miR-3666	CLIP-seq
MIRT2431070	hsa-miR-4295	CLIP-seq
MIRT2431071	hsa-miR-433	CLIP-seq
MIRT2431072	hsa-miR-4424	CLIP-seq
MIRT2431073	hsa-miR-454	CLIP-seq
MIRT1138496	hsa-miR-4716-5p	CLIP-seq
MIRT2431074	hsa-miR-580	CLIP-seq
MIRT2431075	hsa-miR-600	CLIP-seq
MIRT1138472	hsa-miR-1305	CLIP-seq
MIRT2453847	hsa-miR-4280	CLIP-seq
MIRT1138488	hsa-miR-4282	CLIP-seq
MIRT2453848	hsa-miR-4698	CLIP-seq
MIRT1138502	hsa-miR-548c-3p	CLIP-seq
MIRT1138506	hsa-miR-607	CLIP-seq
MIRT2568572	hsa-miR-3201	CLIP-seq
MIRT2568573	hsa-miR-4310	CLIP-seq
MIRT2568574	hsa-miR-448	CLIP-seq
MIRT1138494	hsa-miR-4694-3p	CLIP-seq
MIRT2568575	hsa-miR-4791	CLIP-seq
MIRT2039293	hsa-miR-656	CLIP-seq
MIRT2568572	hsa-miR-3201	CLIP-seq
MIRT1138494	hsa-miR-4694-3p	CLIP-seq
MIRT2568575	hsa-miR-4791	CLIP-seq
MIRT2039293	hsa-miR-656	CLIP-seq

Gene ontology (GO) Show/Hide all (26)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	12192039, 17289077
GO:0005576	Component	Extracellular region	IEA
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	10671520, 16260749
GO:0005634	Component	Nucleus	IEA
GO:0005730	Component	Nucleolus	IBA
GO:0005730	Component	Nucleolus	IDA	10671520, 11139147
GO:0005730	Component	Nucleolus	IEA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	10671520, 16260749
GO:0005737	Component	Cytoplasm	IEA
GO:0010468	Process	Regulation of gene expression	IEA
GO:0030111	Process	Regulation of Wnt signaling pathway	IBA
GO:0030111	Process	Regulation of Wnt signaling pathway	IDA	12192039
GO:0030332	Function	Cyclin binding	IPI	12944466
GO:0030957	Function	Tat protein binding	IDA	12944466, 16260749
GO:0042308	Process	Negative regulation of protein import into nucleus	IEA
GO:0042308	Process	Negative regulation of protein import into nucleus	ISS
GO:0045892	Process	Negative regulation of DNA-templated transcription	IBA
GO:0045892	Process	Negative regulation of DNA-templated transcription	IEA
GO:0045892	Process	Negative regulation of DNA-templated transcription	ISS
GO:0045893	Process	Positive regulation of DNA-templated transcription	IDA	12944466
GO:0046328	Process	Regulation of JNK cascade	IBA
GO:0046328	Process	Regulation of JNK cascade	IDA	12192039
GO:0050434	Process	Positive regulation of viral transcription	IDA	10671520
GO:0140297	Function	DNA-binding transcription factor binding	IPI	12192039

Other IDs

• MIM: 614511
• HGNC: 28870
• e!Ensembl: ENSG00000135272

Protein

• UniProt ID: Q9P1T7
• Protein name: MyoD family inhibitor domain-containing protein (I-mfa domain-containing protein) (hIC)
• Protein function: Required to control the activity of various transcription factors through their sequestration in the cytoplasm. Retains nuclear Zic proteins ZIC1, ZIC2 and ZIC3 in the cytoplasm and inhibits their transcriptional activation (By similarity). Modu
• PDB: 8YFC , 8YFG , 8ZU3
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF15316	MDFI	74 → 246	MyoD family inhibitor	Family

• Tissue specificity: TISSUE SPECIFICITY: Expressed in lymphatic tissues. Detected in the spleen, thymus, peripheral blood leukocytes as well as prostate, uterus and small intestine. Expressed in lymphatic endothelial cells (PubMed:35235341). {ECO:0000269|PubMed:10671520, ECO:
• Sequence:

  MSGAGEALAPGPVGPQRVAEAGGGQLGSTAQGKCDKDNTEKDITQATNSHFTHGEMQDQS
  IWGNPSDGELIRTQPQRLPQLQTSAQVPSGEEIGKIKNGHTGLSNGNGIHHGAKHGSADN
  RKLSAPVSQKMHRKIQSSLSVNSDISKKSKVNAVFSQKTGSSPEDCCVHCILACLFCEFL
  TLCNIVLGQASCGICTSEACCCCCGDEMGDDCNCPCDMDCGIMDACCESSDCLEICMECC
  GICFPS

• Sequence length: 246

Pathways

KEGG Pathway:

Viral life cycle - HIV-1

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
Lymphatic malformation 12	Pathogenic	rs562142736, rs2115961148, rs753720421	RCV002279857 RCV002279859 RCV002279860	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
MDFIC-related disorder	Pathogenic	rs562142736	RCV003418436	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations Show/Hide Unknown Diseases (16)
Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
ALZHEIMER DISEASE	—	GWAS catalog	34743297	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BILIRUBIN METABOLISM DISEASE	—	GWAS catalog	39024449	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	GWAS catalog	34099189	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CANCER	—	GWAS catalog	37380357	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CROHN'S DISEASE	—	GWAS catalog	22936669	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HOARDING DISORDER	—	GWAS catalog	36379924	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFLAMMATORY BOWEL DISEASE	—	GWAS catalog	22936669	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	35835914	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	34099189	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	39349817	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	23818313	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OLIGODENDROGLIOMA	—	GWAS catalog	36810956	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS	—	GWAS catalog	36411363	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PELVIC ORGAN PROLAPSE	—	GWAS catalog	26545240	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	34099189	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	39349817, 40465716	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining Show/Hide Text Mining Associations (18)
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Brain Neoplasms	Brain neoplasms	Pubtator	32457453	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	32457453	Stimulate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	31760239		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	32457453	Associate	★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	29167117		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	30900526		★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	29167117		★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic neoplasm	Pubtator	23028501	Associate	★☆☆☆☆ Found in Text Mining only
Hyperemia	Hyperemia	BEFREE	29167117		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	30900526		★☆☆☆☆ Found in Text Mining only
Interstitial Cystitis	Interstitial Cystitis	BEFREE	29372285		★☆☆☆☆ Found in Text Mining only
Language Disorders	Language Disorders	BEFREE	22106036		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	29026997, 29120833		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	26469549		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	29584768		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	32457453	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	20626849	Associate	★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	30900526		★☆☆☆☆ Found in Text Mining only

Related Genes

Sort by: Blended Diseases Pathways Evidence source

TIE1 1 shared diseaseLymphatic malformation 3 shared evidence sourcesClinVar (Lymphatic malformation), HPO (Lymphatic malformation), Disgenet (Lymphatic malformation) Related via 1 shared disease including Lymphatic malformation — evidence mostly ClinVar. VEGFC 1 shared diseaseLymphatic malformation 4 shared evidence sourcesClinVar (Lymphatic malformation), HPO (Lymphatic malformation), Disgenet (Lymphatic malformation), CTD (Lymphatic malformation) Related via 1 shared disease including Lymphatic malformation — evidence mostly ClinVar. CALCRL 1 shared diseaseLymphatic malformation 4 shared evidence sourcesClinVar (Lymphatic malformation), HPO (Lymphatic malformation), Disgenet (Lymphatic malformation), CTD (Lymphatic malformation) Related via 1 shared disease including Lymphatic malformation — evidence mostly ClinVar. ANGPT2 1 shared diseaseLymphatic malformation 3 shared evidence sourcesClinVar (Lymphatic malformation), HPO (Lymphatic malformation), Disgenet (Lymphatic malformation) Related via 1 shared disease including Lymphatic malformation — evidence mostly ClinVar. SOX5 2 shared diseasesHoarding disorder, Pelvic organ prolapse 2 shared evidence sourcesGWAS catalog (Hoarding disorder), GWAS catalog (Pelvic organ prolapse) Related via 2 shared diseases including Hoarding disorder, Pelvic organ prolapse — evidence mostly GWAS catalog.

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
TIE1	1	["Lymphatic malformation"]	0	[]	3	["ClinVar (Lymphatic malformation)","HPO (Lymphatic malformation)","Disgenet (Lymphatic malformation)"]
VEGFC	1	["Lymphatic malformation"]	0	[]	4	["ClinVar (Lymphatic malformation)","HPO (Lymphatic malformation)","Disgenet (Lymphatic malformation)","CTD (Lymphatic malformation)"]
CALCRL	1	["Lymphatic malformation"]	0	[]	4	["ClinVar (Lymphatic malformation)","HPO (Lymphatic malformation)","Disgenet (Lymphatic malformation)","CTD (Lymphatic malformation)"]
ANGPT2	1	["Lymphatic malformation"]	0	[]	3	["ClinVar (Lymphatic malformation)","HPO (Lymphatic malformation)","Disgenet (Lymphatic malformation)"]
SOX5	2	["Hoarding disorder","Pelvic organ prolapse"]	0	[]	2	["GWAS catalog (Hoarding disorder)","GWAS catalog (Pelvic organ prolapse)"]

Diseases Linked via Similar Genes

Color vision deficiency Linked via 2 of 5 related genesTIE1, SOX5 Hemangiosarcoma Linked via 2 of 5 related genesVEGFC, ANGPT2 Colorectal cancer Linked via 2 of 5 related genesCALCRL, SOX5 Coronary artery disease Linked via 2 of 5 related genesCALCRL, SOX5 Non-immune hydrops fetalis Linked via 2 of 5 related genesCALCRL, ANGPT2

Disease	Linked Via (Gene Count)	Linked Via (Gene Names)
Color vision deficiency	2	["TIE1","SOX5"]
Hemangiosarcoma	2	["VEGFC","ANGPT2"]
Colorectal cancer	2	["CALCRL","SOX5"]
Coronary artery disease	2	["CALCRL","SOX5"]
Non-immune hydrops fetalis	2	["CALCRL","ANGPT2"]