Disease table of PITUITARY HORMONE DEFICIENCY, COMBINED OMIM ID: PS613038

Gene-disease associations table

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Gene	Associated with PITUITARY HORMONE DEFICIENCY, COMBINED in	Link to HGNC	Cytogenetic band	Number of associated diseases	Associated diseases
HESX1	OMIM, HUMSAVAR	HGNC link	3p14.3	1	PS613038
LHX3	ClinVar, OMIM, HUMSAVAR	HGNC link	9q34.3	1	PS613038
LHX4	ClinVar, OMIM, HUMSAVAR	HGNC link	1q25.2	1	PS613038
OTX2	ClinVar, OMIM, HUMSAVAR	HGNC link	14q22.3	2	PS309800, PS613038
POU1F1	ClinVar, OMIM, HUMSAVAR	HGNC link	3p11.2	1	PS613038
PROP1	ClinVar, OMIM, HUMSAVAR	HGNC link	5q35.3	1	PS613038

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Download the disease annotation in CSV format

Relations among genes:

Tandem repeat annotations from DGD

Cytogenetic band analysis

By region

Shared region	Number of genes associated with the disease	Genes associated with the disease
3p1	2	POU1F1, HESX1

By arm

Shared arm	Number of genes associated with the disease	Genes associated with the disease
3p	2	POU1F1, HESX1

By chromosome

Shared chromosome	Number of genes associated with the disease	Genes associated with the disease
3	2	POU1F1, HESX1

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
POU1F1	YES	11	BDKRB1, GHR, VDR, INSM1, TSHB, PRL, GH1, REN, GH2, POU1F1, CGA	1	POU1F1
LHX3	YES	1	FSHB	0
LHX4	YES	1	POU1F1	1	POU1F1
OTX2	YES	12	TYR, POU1F1, HESX1, DCT, BEST1, AURKA, RBP3, IL6, CCNG2, IGF1, PAX6, CDC25C	2	HESX1, POU1F1
SOX2	NO	24	POU4F2, ISL1, NTRK3, FGF4, VIM, TUBB3, LHX3, ITGA6, CCND1, L1TD1, PGA5, DKK1, PAX6, MKI67, RHO, ABCC6, PLAC1, UTF1, ABCC3, POU1F1, LXN, MMP3, SEMA6A, ASXL1	2	LHX3, POU1F1

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regulated gene	associated to this disease	# TFs	TFs	# TFs associated with this disease	TFs associated with this disease
POU1F1	YES	7	OTX2, SOX2, HMGA1, LHX4, POU1F1, HMGA2, LHX2	3	OTX2, LHX4, POU1F1
LHX3	YES	1	SOX2	0
HESX1	YES	3	OTX2, GATA4, PITX2	1	OTX2

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Interactions from BIOGRID - physical

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Gene1	Gene2	Direct Interaction	Number of shared interactors	Shared genes in interaction
POU1F1	HESX1	No	1	NCOR1
LHX3	LHX4	No	3	ISL2, IFT172, ISL1
LHX3	OTX2	No	1	LHX1
HESX1	PROP1	No	1	TLE1

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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
POU1F1	PROP1	Yes	activation, binding	0
POU1F1	HESX1	No	-	1	NCOR1
LHX3	LHX4	No	-	3	SP1, IFT172, ISL1
HESX1	OTX2	No	-	1	FGF8
HESX1	PROP1	No	-	1	TLE1

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

Interactions from CORUM

Interactions from CENSUS

Interactions from PDB

Interactions from manually curated literature

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

NET-GE enrichment

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Term	New enriched term	IC	P value	Genes
Signaling pathways regulating pluripotency of stem cells (hsa04550)	NEW	5.6	0.015	LHX3, OTX2, HESX1

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

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
RNA polymerase II transcription factor binding (GO:0001085)	5.08	2	LHX3, POU1F1
transcription factor activity, RNA polymerase II transcription factor binding (GO:0001076)	4.84	2	LHX3, POU1F1
protein C-terminus binding (GO:0008022)	4.5	2	PROP1, HESX1
transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding (GO:0001077)	4.31	2	OTX2, POU1F1
transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding (GO:0001228)	3.98	3	PROP1, OTX2, POU1F1
transcription factor activity, RNA polymerase II core promoter proximal region sequence-specific binding (GO:0000982)	3.94	2	OTX2, POU1F1
RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)	3.88	2	OTX2, POU1F1
core promoter proximal region sequence-specific DNA binding (GO:0000987)	3.83	2	OTX2, POU1F1
core promoter proximal region DNA binding (GO:0001159)	3.82	2	OTX2, POU1F1
chromatin binding (GO:0003682)	3.64	3	PROP1, HESX1, POU1F1

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NET-GE enrichment

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Term	New enriched term	IC	P value	Genes
RNA polymerase II transcription coactivator activity (GO:0001105)	NEW	6.15	0.012	LHX3, POU1F1
RNA polymerase II activating transcription factor binding (GO:0001102)	NEW	6.13	0.029	LHX3, POU1F1
RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)	NEW	5.77	0.036	LHX3, POU1F1
RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)	-	4.84	0.028	LHX3, OTX2, HESX1, POU1F1
transcription corepressor activity (GO:0003714)	NEW	4.33	0.002	LHX3, OTX2, LHX4, POU1F1
RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	-	4.31	0.031	LHX3, OTX2, POU1F1
chromatin binding (GO:0003682)	-	3.64	0.001	LHX3, PROP1, HESX1, POU1F1, OTX2
RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)	-	3.37	0.007	LHX3, OTX2, POU1F1, HESX1
RNA polymerase II regulatory region DNA binding (GO:0001012)	-	3.36	0.007	LHX3, OTX2, HESX1, POU1F1
transcription factor binding transcription factor activity (GO:0000989)	-	3.36	0.003	LHX3, LHX4, OTX2, POU1F1, HESX1

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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
medial motor column neuron differentiation (GO:0021526)	9.04	2	LHX3, LHX4
somatotropin secreting cell differentiation (GO:0060126)	8.34	2	PROP1, POU1F1
adenohypophysis development (GO:0021984)	7.53	2	PROP1, POU1F1
motor neuron axon guidance (GO:0008045)	6.4	2	LHX3, LHX4
pituitary gland development (GO:0021983)	6.33	2	LHX3, POU1F1
cell differentiation in spinal cord (GO:0021515)	6.02	2	LHX3, LHX4
placenta development (GO:0001890)	5.99	2	LHX3, LHX4
dorsal/ventral pattern formation (GO:0009953)	5.6	2	LHX3, PROP1
cell fate specification (GO:0001708)	5.57	2	LHX3, POU1F1
axon guidance (GO:0007411)	4.44	3	LHX3, OTX2, LHX4

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NET-GE enrichment

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Term	New enriched term	IC	P value	Genes
medial motor column neuron differentiation (GO:0021526)	-	9.04	0.0	LHX3, LHX4
otic vesicle formation (GO:0030916)	NEW	7.78	0.007	OTX2, HESX1
forebrain morphogenesis (GO:0048853)	NEW	7.43	0.026	OTX2, HESX1
spinal cord association neuron differentiation (GO:0021527)	NEW	7.16	0.029	LHX3, OTX2
motor neuron axon guidance (GO:0008045)	-	6.4	0.001	LHX3, OTX2, LHX4
placenta development (GO:0001890)	-	5.99	0.013	LHX3, LHX4
dorsal/ventral pattern formation (GO:0009953)	-	5.6	0.043	LHX3, PROP1, OTX2
cell fate specification (GO:0001708)	-	5.57	0.016	LHX3, OTX2, POU1F1
locomotory behavior (GO:0007626)	NEW	4.53	0.015	LHX3, OTX2, LHX4, HESX1
axon guidance (GO:0007411)	-	4.44	0.034	LHX3, OTX2, LHX4

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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
transcription factor complex (GO:0005667)	4.1	3	LHX3, PROP1, POU1F1
intracellular (GO:0005622)	2.37	2	LHX3, LHX4
protein complex (GO:0043234)	1.51	4	LHX3, PROP1, OTX2, POU1F1
macromolecular complex (GO:0032991)	1.35	4	LHX3, PROP1, OTX2, POU1F1
nucleus (GO:0005634)	1.07	6	LHX3, OTX2, HESX1, LHX4, PROP1, POU1F1
intracellular membrane-bounded organelle (GO:0043231)	0.6	6	LHX3, OTX2, HESX1, LHX4, PROP1, POU1F1
intracellular organelle (GO:0043229)	0.51	6	LHX3, OTX2, HESX1, LHX4, PROP1, POU1F1
membrane-bounded organelle (GO:0043227)	0.47	6	LHX3, OTX2, HESX1, LHX4, PROP1, POU1F1
organelle (GO:0043226)	0.4	6	LHX3, OTX2, HESX1, LHX4, PROP1, POU1F1
intracellular part (GO:0044424)	0.28	6	LHX3, OTX2, HESX1, LHX4, PROP1, POU1F1

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NET-GE enrichment

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Term	New enriched term	IC	P value	Genes
transcription factor complex (GO:0005667)	-	4.1	0.046	LHX3, PROP1, HESX1, POU1F1, OTX2
nucleus (GO:0005634)	-	1.07	0.012	LHX3, OTX2, HESX1, LHX4, PROP1, POU1F1

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