Disease table of HYPOTRICHOSIS OMIM ID: PS605389

Gene-disease associations table

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Gene	Associated with HYPOTRICHOSIS in	Link to HGNC	Cytogenetic band	Number of associated diseases	Associated diseases
APCDD1	ClinVar, OMIM, HUMSAVAR	HGNC link	18p11.22	1	PS605389
CDSN	ClinVar, OMIM	HGNC link	6p21.33	2	PS605389, PS270300
DSG4	ClinVar, OMIM	HGNC link	18q12.1	1	PS605389
HR	ClinVar, OMIM	HGNC link	8p21.3	3	PS605389, PS203655, 209500
KRT25	ClinVar	HGNC link	17q21.2	2	PS605389, 616760
KRT71	ClinVar, OMIM, HUMSAVAR	HGNC link	12q13.13	1	PS605389
KRT74	ClinVar, OMIM, HUMSAVAR	HGNC link	12q13.13	3	PS605389, PS305100, 194300
LIPH	OMIM, HUMSAVAR	HGNC link	3q27.2	1	PS605389
LPAR6	ClinVar, OMIM, HUMSAVAR	HGNC link	13q14.2	1	PS605389
RPL21	ClinVar, OMIM, HUMSAVAR	HGNC link	13q12.2	1	PS605389

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Relations among genes:

Tandem repeat annotations from DGD

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Common tandem group	Number of genes in this tandem group associated to this disease	Genes in this tandem group associated to this disease
Group 573	2	KRT71, KRT74

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Cytogenetic band analysis

By sub-band

Shared sub_band	Number of genes associated with the disease	Genes associated with the disease
12q13.13	2	KRT71, KRT74

By band

Shared band	Number of genes associated with the disease	Genes associated with the disease
12q13	2	KRT71, KRT74

By region

Shared region	Number of genes associated with the disease	Genes associated with the disease
12q1	2	KRT71, KRT74
13q1	2	LPAR6, RPL21

By arm

Shared arm	Number of genes associated with the disease	Genes associated with the disease
12q	2	KRT71, KRT74
13q	2	LPAR6, RPL21

By chromosome

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Shared chromosome	Number of genes associated with the disease	Genes associated with the disease
12	2	KRT71, KRT74
13	2	LPAR6, RPL21
18	2	DSG4, APCDD1

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Transcription Factors (TF) annotation from TRRUST

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TF	associated to this disease	# regulated genes	Regulated genes	# regulated genes associated with this disease	Regulated genes associated with this disease
HR	YES	1	OLR1	0

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regulated gene	associated to this disease	# TFs	TFs	# TFs associated with this disease	TFs associated with this disease
HR	YES	2	RAD51, TP53	0
DSG4	YES	3	FOXN1, HOXC13, LEF1	0

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Interactions from BIOGRID - physical

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Gene1	Gene2	Direct Interaction	Number of shared interactors	Shared genes in interaction
KRT71	RPL21	No	5	COPS5, CUL2, CUL4B, EIF4A3, CUL3
KRT71	SNRPE	No	4	COPS5, CUL2, CUL4B, CUL3
HR	LIPH	No	1	HDAC3
RPL21	SNRPE	No	11	FN1, YWHAQ, CUL1, CUL4B, CUL5, CAND1, COPS5, CUL3, CUL2, UBL4A, CUL7
CDSN	LPAR6	No	1	ZDHHC17

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Direct interactions graph
Interactions graph (direct and indirect interactions, when direct are not available)

Interactions from BIOGRID - genetic

Interactions from STRING

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Gene1	Gene2	Direct Interaction	Interaction mode	Number of shared interactors	Shared genes in interaction
KRT74	KRT71	No	-	1	UBC
KRT74	RPL21	No	-	1	UBC
KRT74	SNRPE	No	-	1	UBC
KRT71	RPL21	No	-	1	UBC
KRT71	SNRPE	No	-	1	UBC
RPL21	LPAR6	No	-	1	NPSR1
RPL21	SNRPE	No	-	8	NCBP1, MAGOH, RNPS1, NHP2L1, UPF3B, UBC, EEF2, NCBP2

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Direct interactions graph
Interactions graph (direct and indirect interactions, when direct are not available)

Interactions from CORUM

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Gene1	Gene2	Direct Interaction	Complexes	Number of shared interactors	Shared genes in interaction
RPL21	SNRPE	No	-	9	SNU13, HNRNPA1, HNRNPM, U2AF1, U2AF2, HNRNPU, YBX1, DHX9, MOV10

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Direct interactions graph
Interactions graph (direct and indirect interactions, when direct are not available)

Interactions from CENSUS

Interactions from PDB

Interactions from manually curated literature

KEGG pathways annotation: shared terms / NET-GE enrichment (no shared terms)

REACTOME pathways annotation: shared terms (no NET-GE enrichment)

Shared terms

REACTOME term	REACTOME term ID	IC	Number of genes with the same term	Genes
Gene Expression	R-HSA-74160	2.72	2	SNRPE, RPL21

GO - molecular function annotation: shared terms / NET-GE enrichment

Shared terms

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GO	IC	Number of genes with the same GO	Genes
structural molecule activity (GO:0005198)	3.1	4	KRT74, KRT25, KRT71, RPL21
RNA binding (GO:0003723)	2.36	2	SNRPE, RPL21
nucleic acid binding (GO:0003676)	1.44	3	HR, SNRPE, RPL21
metal ion binding (GO:0046872)	1.41	2	HR, DSG4
cation binding (GO:0043169)	1.4	2	HR, DSG4
ion binding (GO:0043167)	1.36	2	HR, DSG4
heterocyclic compound binding (GO:1901363)	1.06	3	HR, SNRPE, RPL21
organic cyclic compound binding (GO:0097159)	1.05	3	HR, SNRPE, RPL21
catalytic activity (GO:0003824)	1.05	2	HR, LIPH
protein binding (GO:0005515)	0.46	7	APCDD1, RPL21, CDSN, HR, SNRPE, KRT71, KRT74

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NET-GE enrichment

Term	New enriched term	IC	P value	Genes
structural molecule activity (GO:0005198)	-	3.1	0.027	KRT74, KRT25, KRT71, RPL21

GO - biological process annotation: shared terms / NET-GE enrichment

Shared terms

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GO	IC	Number of genes with the same GO	Genes
hair cycle (GO:0042633)	6.96	2	KRT25, SNRPE
molting cycle (GO:0042303)	6.96	2	KRT25, SNRPE
intermediate filament organization (GO:0045109)	6.73	2	KRT25, KRT71
hair follicle morphogenesis (GO:0031069)	6.47	2	KRT25, KRT71
intermediate filament cytoskeleton organization (GO:0045104)	6.04	3	KRT74, KRT25, KRT71
intermediate filament-based process (GO:0045103)	6.02	3	KRT74, KRT25, KRT71
hair follicle development (GO:0001942)	6.02	2	APCDD1, DSG4
molting cycle process (GO:0022404)	5.54	4	APCDD1, KRT25, DSG4, KRT71
hair cycle process (GO:0022405)	5.54	4	APCDD1, KRT25, DSG4, KRT71
keratinocyte differentiation (GO:0030216)	5.37	2	DSG4, CDSN

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NET-GE enrichment

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Term	New enriched term	IC	P value	Genes
hair cycle (GO:0042633)	-	6.96	0.006	KRT25, SNRPE
molting cycle (GO:0042303)	-	6.96	0.006	KRT25, SNRPE
hair follicle morphogenesis (GO:0031069)	-	6.47	0.028	KRT25, KRT71
intermediate filament cytoskeleton organization (GO:0045104)	-	6.04	0.041	KRT74, KRT25
intermediate filament-based process (GO:0045103)	-	6.02	0.043	KRT74, KRT25
molting cycle process (GO:0022404)	-	5.54	0.002	APCDD1, KRT25, KRT71
hair cycle process (GO:0022405)	-	5.54	0.002	APCDD1, KRT25, KRT71

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GO - cellular component annotation: shared terms / NET-GE enrichment

Shared terms

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GO	IC	Number of genes with the same GO	Genes
desmosome (GO:0030057)	6.58	2	DSG4, CDSN
keratin filament (GO:0045095)	5.21	2	KRT74, KRT71
intermediate filament (GO:0005882)	4.48	3	KRT74, KRT25, KRT71
cell-cell junction (GO:0005911)	3.85	2	DSG4, CDSN
anchoring junction (GO:0070161)	3.61	2	DSG4, CDSN
supramolecular fiber (GO:0099512)	3.31	3	KRT74, KRT25, KRT71
polymeric cytoskeletal fiber (GO:0099513)	3.31	3	KRT74, KRT25, KRT71
ribonucleoprotein complex (GO:1990904)	3.19	2	SNRPE, RPL21
intracellular ribonucleoprotein complex (GO:0030529)	3.19	2	SNRPE, RPL21
cell junction (GO:0030054)	2.75	2	DSG4, CDSN

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NET-GE enrichment

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Term	New enriched term	IC	P value	Genes
desmosome (GO:0030057)	-	6.58	0.014	DSG4, CDSN
intermediate filament (GO:0005882)	-	4.48	0.011	KRT74, KRT25, KRT71

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