Disease table of HYDROPS FETALIS, NONIMMUNE OMIM ID: 236750

Gene-disease associations table

Gene	Associated with HYDROPS FETALIS, NONIMMUNE in	Link to HGNC	Cytogenetic band	Number of associated diseases	Associated diseases
DNAH14	ClinVar	HGNC link	1q42.12	1	236750
GALNT14	ClinVar	HGNC link	2p23.1	1	236750
PIGC	ClinVar	HGNC link	1q24.3	1	236750
FZD6	ClinVar	HGNC link	8q22.3	2	PS161050, 236750
NEB	ClinVar	HGNC link	2q23.3	2	236750, PS161800
MYOM1	ClinVar	HGNC link	18p11.31	1	236750
THSD1	ClinVar	HGNC link	13q14.3	1	236750
CHRNA1	ClinVar	HGNC link	2q31.1	3	236750, 253290, PS601462
NEU1	ClinVar	HGNC link	6p21.33	2	256550, 236750
UBN1	ClinVar	HGNC link	16p13.3	1	236750
GUSB	ClinVar	HGNC link	7q11.21	2	236750, PS607014

Download the disease annotation in CSV format

Relations among genes:

Tandem repeat annotations from DGD

Cytogenetic band analysis

By arm

Shared arm	Number of genes associated with the disease	Genes associated with the disease
1q	2	PIGC, DNAH14
2q	2	NEB, CHRNA1

By chromosome

Shared chromosome	Number of genes associated with the disease	Genes associated with the disease
1	2	PIGC, DNAH14
2	3	GALNT14, NEB, CHRNA1

Transcription Factors (TF) annotation from TRRUST

regulated gene	associated to this disease	# TFs	TFs	# TFs associated with this disease	TFs associated with this disease
CHRNA1	YES	1	AIRE	0
GUSB	YES	1	TFAP2A	0

Interactions from BIOGRID - physical

Gene1	Gene2	Direct Interaction	Number of shared interactors	Shared genes in interaction
NEU1	GUSB	No	1	FBXO6

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

Interactions from BIOGRID - genetic

Interactions from STRING

Gene1	Gene2	Direct Interaction	Interaction mode	Number of shared interactors	Shared genes in interaction
FZD6	CHRNA1	No	-	2	GNAQ, GNB1
NEB	MYOM1	No	-	6	MYL1, MYL3, MYH8, MYH6, MYH3, MYBPC3
NEB	CHRNA1	No	-	0

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: shared terms / NET-GE enrichment

Shared terms

KEGG term	KEGG term ID	IC	Number of genes with the same term	Genes
Metabolic pathways	hsa01100	2.49	3	GALNT14, GUSB, PIGC
Lysosome	hsa04142	5.78	2	NEU1, GUSB

NET-GE enrichment

Term	New enriched term	IC	P value	Genes
Glycan biosynthesis and metabolism	NEW	4.78	0.002	GALNT14, NEU1, PIGC, GUSB
Glycosaminoglycan degradation (hsa00531)	NEW	8.45	0.017	NEU1, GUSB

REACTOME pathways annotation: shared terms / NET-GE enrichment

Shared terms

REACTOME term	REACTOME term ID	IC	Number of genes with the same term	Genes
Post-translational protein modification	R-HSA-597592	4.54	4	GALNT14, THSD1, NEU1, PIGC
Metabolism of proteins	R-HSA-392499	3.41	4	GALNT14, THSD1, NEU1, PIGC
Disease	R-HSA-1643685	3.33	3	NEU1, GUSB, FZD6
Metabolism	R-HSA-1430728	2.34	2	NEU1, GUSB
O-linked glycosylation	R-HSA-5173105	6.3	2	GALNT14, THSD1

NET-GE enrichment

Term	New enriched term	IC	P value	Genes
Post-translational protein modification (R-HSA-597592)	-	4.54	0.021	GALNT14, THSD1, NEU1, PIGC
Mucopolysaccharidoses (R-HSA-2206281)	NEW	9.52	0.007	NEU1, GUSB
Diseases of carbohydrate metabolism (R-HSA-5663084)	NEW	8.28	0.048	NEU1, GUSB
HS-GAG degradation (R-HSA-2024096)	NEW	8.52	0.026	NEU1, GUSB

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

Shared terms

GO	IC	Number of genes with the same GO	Genes
binding (GO:0005488)	0.18	8	DNAH14, GALNT14, CHRNA1, NEB, FZD6, MYOM1, UBN1, GUSB
catalytic activity (GO:0003824)	1.05	5	DNAH14, GUSB, GALNT14, PIGC, NEU1
protein binding (GO:0005515)	0.46	5	FZD6, NEB, UBN1, MYOM1, GUSB
hydrolase activity (GO:0016787)	1.9	3	DNAH14, NEU1, GUSB
cation binding (GO:0043169)	1.4	2	GALNT14, CHRNA1
signaling receptor activity (GO:0038023)	2.49	2	FZD6, CHRNA1
signal transducer activity (GO:0004871)	2.28	2	FZD6, CHRNA1
organic cyclic compound binding (GO:0097159)	1.05	2	DNAH14, UBN1
structural constituent of muscle (GO:0008307)	6.02	2	NEB, MYOM1
hydrolase activity, acting on glycosyl bonds (GO:0016798)	4.91	2	NEU1, GUSB
molecular transducer activity (GO:0060089)	2.32	2	FZD6, CHRNA1
transferase activity (GO:0016740)	1.95	2	GALNT14, PIGC
receptor activity (GO:0004872)	2.32	2	FZD6, CHRNA1
transferase activity, transferring glycosyl groups (GO:0016757)	4.08	2	GALNT14, PIGC
hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)	5.14	2	NEU1, GUSB
transferase activity, transferring hexosyl groups (GO:0016758)	4.43	2	GALNT14, PIGC
UDP-glycosyltransferase activity (GO:0008194)	4.81	2	GALNT14, PIGC
ion binding (GO:0043167)	1.36	2	GALNT14, CHRNA1
structural molecule activity (GO:0005198)	3.1	2	NEB, MYOM1
heterocyclic compound binding (GO:1901363)	1.06	2	DNAH14, UBN1
transmembrane receptor activity (GO:0099600)	2.53	2	FZD6, CHRNA1
transmembrane signaling receptor activity (GO:0004888)	2.57	2	FZD6, CHRNA1

NET-GE enrichment

Term	New enriched term	IC	P value	Genes
structural constituent of muscle (GO:0008307)	-	6.02	0.02	NEB, MYOM1
UDP-glycosyltransferase activity (GO:0008194)	-	4.81	0.026	GALNT14, NEU1, PIGC

GO - biological process annotation: shared terms (no NET-GE enrichment)

Shared terms

GO	IC	Number of genes with the same GO	Genes
cellular process (GO:0009987)	0.26	9	DNAH14, PIGC, CHRNA1, GALNT14, FZD6, NEB, MYOM1, UBN1, NEU1
single-organism cellular process (GO:0044763)	0.65	8	DNAH14, PIGC, CHRNA1, GALNT14, FZD6, NEB, MYOM1, NEU1
single-organism process (GO:0044699)	0.48	8	DNAH14, PIGC, CHRNA1, GALNT14, FZD6, NEB, MYOM1, NEU1
biological regulation (GO:0065007)	0.39	6	CHRNA1, NEU1, FZD6, NEB, MYOM1, UBN1
regulation of biological process (GO:0050789)	0.45	6	CHRNA1, NEU1, FZD6, NEB, MYOM1, UBN1
regulation of cellular process (GO:0050794)	0.5	6	CHRNA1, NEU1, FZD6, NEB, MYOM1, UBN1
metabolic process (GO:0008152)	0.58	4	GALNT14, NEU1, PIGC, GUSB
organic substance metabolic process (GO:0071704)	0.63	4	GALNT14, NEU1, PIGC, GUSB
cellular component organization (GO:0016043)	1.24	4	NEB, UBN1, CHRNA1, MYOM1
cellular component organization or biogenesis (GO:0071840)	1.22	4	NEB, UBN1, CHRNA1, MYOM1
primary metabolic process (GO:0044238)	0.69	4	GALNT14, NEU1, PIGC, GUSB
developmental process (GO:0032502)	1.36	3	NEB, FZD6, CHRNA1
single-organism metabolic process (GO:0044710)	1.63	3	GALNT14, NEU1, PIGC
multicellular organismal process (GO:0032501)	1.45	3	FZD6, CHRNA1, MYOM1
carbohydrate metabolic process (GO:0005975)	3.26	3	GALNT14, NEU1, GUSB
carbohydrate derivative metabolic process (GO:1901135)	3.07	3	NEU1, GUSB, PIGC
cellular metabolic process (GO:0044237)	0.69	3	GALNT14, NEU1, PIGC
macromolecule metabolic process (GO:0043170)	0.83	3	GALNT14, GUSB, PIGC
single-organism developmental process (GO:0044767)	1.49	3	NEB, FZD6, CHRNA1
anatomical structure development (GO:0048856)	1.58	2	NEB, FZD6
regulation of nucleobase-containing compound metabolic process (GO:0019219)	1.43	2	UBN1, FZD6
regulation of primary metabolic process (GO:0080090)	1.08	2	UBN1, FZD6
regulation of metabolic process (GO:0019222)	1.02	2	UBN1, FZD6
regulation of cellular biosynthetic process (GO:0031326)	1.38	2	UBN1, FZD6
regulation of response to stimulus (GO:0048583)	1.54	2	FZD6, MYOM1
regulation of cellular component organization (GO:0051128)	2.01	2	NEB, NEU1
muscle system process (GO:0003012)	4.18	2	CHRNA1, MYOM1
nitrogen compound metabolic process (GO:0006807)	1.13	2	NEU1, GUSB
signal transduction (GO:0007165)	1.28	2	FZD6, CHRNA1
cell surface receptor signaling pathway (GO:0007166)	2.09	2	FZD6, CHRNA1
cell surface receptor signaling pathway involved in cell-cell signaling (GO:1905114)	3.79	2	FZD6, CHRNA1
membrane lipid metabolic process (GO:0006643)	4.51	2	NEU1, PIGC
cellular protein metabolic process (GO:0044267)	1.63	2	GALNT14, PIGC
organic substance catabolic process (GO:1901575)	2.45	2	NEU1, GUSB
cellular macromolecule metabolic process (GO:0044260)	0.93	2	GALNT14, PIGC
regulation of cellular macromolecule biosynthetic process (GO:2000112)	1.46	2	UBN1, FZD6
regulation of developmental process (GO:0050793)	2.1	2	NEU1, FZD6
negative regulation of molecular function (GO:0044092)	2.74	2	UBN1, FZD6
negative regulation of biological process (GO:0048519)	1.33	2	UBN1, FZD6
regulation of molecular function (GO:0065009)	1.78	2	UBN1, FZD6
regulation of biological quality (GO:0065008)	1.68	2	NEB, CHRNA1
glycolipid metabolic process (GO:0006664)	5.01	2	NEU1, PIGC
regulation of gene expression (GO:0010468)	1.37	2	UBN1, FZD6
liposaccharide metabolic process (GO:1903509)	4.98	2	NEU1, PIGC
lipid metabolic process (GO:0006629)	2.68	2	NEU1, PIGC
muscle contraction (GO:0006936)	4.37	2	CHRNA1, MYOM1
regulation of macromolecule metabolic process (GO:0060255)	1.08	2	UBN1, FZD6
regulation of cellular metabolic process (GO:0031323)	1.07	2	UBN1, FZD6
regulation of biosynthetic process (GO:0009889)	1.37	2	UBN1, FZD6
regulation of nucleic acid-templated transcription (GO:1903506)	1.55	2	UBN1, FZD6
macromolecule modification (GO:0043412)	1.73	2	GALNT14, PIGC
protein modification process (GO:0036211)	1.79	2	GALNT14, PIGC
cellular protein modification process (GO:0006464)	1.79	2	GALNT14, PIGC
regulation of multicellular organismal process (GO:0051239)	1.87	2	NEU1, FZD6
regulation of RNA biosynthetic process (GO:2001141)	1.55	2	UBN1, FZD6
single-organism carbohydrate metabolic process (GO:0044723)	3.42	2	GALNT14, NEU1
cellular lipid metabolic process (GO:0044255)	2.92	2	NEU1, PIGC
movement of cell or subcellular component (GO:0006928)	2.61	2	DNAH14, NEB
catabolic process (GO:0009056)	2.38	2	NEU1, GUSB
system process (GO:0003008)	2.3	2	CHRNA1, MYOM1
organonitrogen compound metabolic process (GO:1901564)	2.32	2	NEU1, GUSB
organonitrogen compound catabolic process (GO:1901565)	3.91	2	NEU1, GUSB
single-multicellular organism process (GO:0044707)	1.78	2	FZD6, CHRNA1
protein metabolic process (GO:0019538)	1.45	2	GALNT14, PIGC
carbohydrate derivative catabolic process (GO:1901136)	4.61	2	NEU1, GUSB
regulation of RNA metabolic process (GO:0051252)	1.52	2	UBN1, FZD6
regulation of transcription, DNA-templated (GO:0006355)	1.56	2	UBN1, FZD6
regulation of macromolecule biosynthetic process (GO:0010556)	1.43	2	UBN1, FZD6
regulation of multicellular organismal development (GO:2000026)	2.31	2	NEU1, FZD6
negative regulation of cellular process (GO:0048523)	1.41	2	UBN1, FZD6
regulation of nitrogen compound metabolic process (GO:0051171)	1.36	2	UBN1, FZD6

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

Shared terms

GO	IC	Number of genes with the same GO	Genes
cell part (GO:0044464)	0.11	11	DNAH14, PIGC, CHRNA1, GALNT14, FZD6, NEB, THSD1, MYOM1, UBN1, NEU1, GUSB
intracellular part (GO:0044424)	0.28	10	DNAH14, PIGC, GALNT14, FZD6, NEB, THSD1, MYOM1, UBN1, NEU1, GUSB
intracellular organelle part (GO:0044446)	0.81	9	DNAH14, PIGC, GALNT14, FZD6, NEB, MYOM1, UBN1, NEU1, GUSB
organelle part (GO:0044422)	0.79	9	DNAH14, PIGC, GALNT14, FZD6, NEB, MYOM1, UBN1, NEU1, GUSB
organelle (GO:0043226)	0.4	8	DNAH14, PIGC, NEU1, FZD6, NEB, UBN1, GALNT14, GUSB
intracellular organelle (GO:0043229)	0.51	7	DNAH14, PIGC, NEU1, NEB, UBN1, GALNT14, GUSB
membrane (GO:0016020)	0.68	7	PIGC, NEU1, FZD6, THSD1, CHRNA1, GALNT14, GUSB
membrane-bounded organelle (GO:0043227)	0.47	7	PIGC, NEU1, FZD6, NEB, UBN1, GALNT14, GUSB
cytoplasmic part (GO:0044444)	0.82	7	PIGC, GALNT14, FZD6, NEB, MYOM1, NEU1, GUSB
membrane part (GO:0044425)	0.95	6	PIGC, NEU1, FZD6, THSD1, CHRNA1, GALNT14
integral component of membrane (GO:0016021)	1.14	6	PIGC, NEU1, FZD6, THSD1, CHRNA1, GALNT14
intrinsic component of membrane (GO:0031224)	1.13	6	PIGC, NEU1, FZD6, THSD1, CHRNA1, GALNT14
protein complex (GO:0043234)	1.51	5	CHRNA1, DNAH14, PIGC, MYOM1, NEB
macromolecular complex (GO:0032991)	1.35	5	CHRNA1, DNAH14, PIGC, MYOM1, NEB
intracellular membrane-bounded organelle (GO:0043231)	0.6	5	GALNT14, UBN1, NEU1, PIGC, GUSB
cytoplasm (GO:0005737)	1.01	4	DNAH14, THSD1, NEB, MYOM1
vesicle (GO:0031982)	1.64	4	NEB, NEU1, FZD6, GUSB
extracellular organelle (GO:0043230)	1.89	3	NEB, NEU1, GUSB
organelle membrane (GO:0031090)	1.97	3	GALNT14, NEU1, FZD6
cell surface (GO:0009986)	3.44	3	NEU1, CHRNA1, FZD6
membrane-bounded vesicle (GO:0031988)	1.71	3	NEB, NEU1, GUSB
cytoskeletal part (GO:0044430)	2.49	3	DNAH14, NEB, MYOM1
plasma membrane (GO:0005886)	1.39	3	NEU1, CHRNA1, FZD6
extracellular vesicle (GO:1903561)	1.89	3	NEB, NEU1, GUSB
extracellular region part (GO:0044421)	1.57	3	NEB, NEU1, GUSB
cell junction (GO:0030054)	2.75	3	NEU1, UBN1, CHRNA1
extracellular exosome (GO:0070062)	1.89	3	NEB, NEU1, GUSB
myofilament (GO:0036379)	7.16	2	NEB, MYOM1
plasma membrane region (GO:0098590)	2.97	2	FZD6, CHRNA1
lysosomal lumen (GO:0043202)	5.32	2	NEU1, GUSB
lytic vacuole (GO:0000323)	3.89	2	NEU1, GUSB
intracellular non-membrane-bounded organelle (GO:0043232)	1.76	2	DNAH14, NEB
organelle lumen (GO:0043233)	3.05	2	NEU1, GUSB
vacuole (GO:0005773)	2.92	2	NEU1, GUSB
cytoplasmic vesicle (GO:0031410)	2.87	2	NEU1, FZD6
bounding membrane of organelle (GO:0098588)	2.39	2	GALNT14, NEU1
cytoskeleton (GO:0005856)	2.55	2	DNAH14, NEB
intracellular organelle lumen (GO:0070013)	3.05	2	NEU1, GUSB
vacuolar lumen (GO:0005775)	5.06	2	NEU1, GUSB
lysosome (GO:0005764)	3.89	2	NEU1, GUSB
sarcomere (GO:0030017)	5.95	2	NEB, MYOM1
non-membrane-bounded organelle (GO:0043228)	1.76	2	DNAH14, NEB
vacuolar part (GO:0044437)	3.26	2	NEU1, GUSB
membrane-enclosed lumen (GO:0031974)	3.05	2	NEU1, GUSB
contractile fiber part (GO:0044449)	4.53	2	NEB, MYOM1
plasma membrane part (GO:0044459)	1.95	2	FZD6, CHRNA1
intracellular vesicle (GO:0097708)	2.86	2	NEU1, FZD6

NET-GE enrichment

Term	New enriched term	IC	P value	Genes
myofilament (GO:0036379)	-	7.16	0.004	NEB, MYOM1