# GeDiPNet Shared-Gene Disease Pairs -- generated 2026-10-11 08:53:28
# Similarity: Jaccard index on shared curated genes (disease_gdp). Significance: upper-tail hypergeometric test (P(X>=k)), Benjamini-Hochberg FDR-corrected across all tested pairs. Corroborated Shared Genes: count of shared genes backed by >=2 distinct disease_gdp.main_source values combined across both diseases (e.g. GWAS-backed for one, ClinVar-backed for the other still counts); Shared Gene Names lists each gene's own source count in parentheses. Overlap Coefficient: shared genes / MIN(each disease's own total gene count) -- complements the Jaccard-based Similarity Score by showing how much of the SMALLER disease's entire known gene-set is covered by this pair, which Jaccard (dividing by the union) can understate. Shared Cluster: cluster id if both diseases fall in the same label-propagation cluster (scripts/build_disease_clusters.php), blank otherwise. See scripts/build_related.php on gedipnet.bicnirrh.res.in. Data as of: 2026-10-11 03:00:14. Filters applied: disease name contains "Epidermolysis bullosa" (76 matching pairs).
Disease A	Disease B	Shared Genes	Corroborated Shared Genes	Shared Gene Names	Similarity Score	Overlap Coefficient	P-value	FDR Q-value	Shared Cluster
Epidermolysis bullosa	Junctional epidermolysis bullosa	8	8	COL7A1 (6), PLEC (8), LAMB3 (6), KRT5 (7), ITGB4 (7), ITGA6 (7), KRT14 (7), KLHL24 (6)	0.25000	0.44444	1.130e-19	2.122e-18	
Junctional epidermolysis bullosa	Other epidermolysis bullosa	6	6	PLEC (3), COL17A1 (7), LAMB3 (6), LAMC2 (6), ITGB4 (6), ITGA6 (6)	0.31579	1.00000	1.004e-18	1.784e-17	
Junctional epidermolysis bullosa	Weber-cockayne syndrome	4	1	KRT5 (1), ITGB4 (6), GALK1 (1), KRT14 (1)	0.21053	1.00000	1.307e-12	1.566e-11	
Epidermolysis bullosa	Other epidermolysis bullosa	4	3	PLEC (8), LAMB3 (1), ITGB4 (5), ITGA6 (2)	0.16667	0.66667	3.827e-11	3.959e-10	
Epidermolysis bullosa	Weber-cockayne syndrome	3	3	KRT5 (7), ITGB4 (5), KRT14 (7)	0.13043	0.75000	8.737e-9	7.043e-8	
Amelogenesis imperfecta	Junctional epidermolysis bullosa	4	4	COL7A1 (4), COL17A1 (7), LAMB3 (6), LAMC2 (6)	0.10000	0.22222	1.628e-8	1.283e-7	
Amelogenesis imperfecta	Other epidermolysis bullosa	3	2	COL17A1 (2), LAMB3 (5), LAMC2 (1)	0.10345	0.50000	7.537e-8	5.413e-7	
Aplasia cutis congenita	Other epidermolysis bullosa	2	2	PLEC (3), ITGB4 (3)	0.20000	0.40000	1.265e-6	7.290e-6	
Junctional epidermolysis bullosa	Lethal acantholytic epidermolysis bullosa	2	2	JUP (3), DSP (5)	0.10526	1.00000	1.291e-6	7.425e-6	
Aplasia cutis congenita	Epidermolysis bullosa	2	2	PLEC (8), ITGB4 (5)	0.08000	0.40000	1.767e-5	8.438e-5	
Epidermolysa bullosa simplex and limb girdle muscular dystrophy	PLEC-related muscular dystrophy-epidermolysis bullosa simplex spectrum disorder	1	1	PLEC (3)	0.50000	1.00000	6.494e-5	2.331e-4	
Nephrotic syndrome-epidermolysis bullosa-sensorineural deafness syndrome	Nephrotic syndrome, deafness, pretibial epidermolysis bullosa syndrome	1	1	CD151 (2)	0.50000	1.00000	6.494e-5	2.331e-4	
Congenital phimosis	epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome	1	1	ITGA3 (2)	0.50000	1.00000	6.494e-5	2.331e-4	
Kindler epidermolysis bullosa	kindler syndrome	1	1	FERMT1 (2)	0.50000	1.00000	6.494e-5	2.331e-4	
Dermatopathia pigmentosa reticularis	Epidermolysis bullosa simplex	1	1	KRT14 (6)	0.50000	1.00000	6.494e-5	2.331e-4	269
Nephropathy with pretibial epidermolysis bullosa and deafness	Nephrotic syndrome, deafness, pretibial epidermolysis bullosa syndrome	1	1	CD151 (2)	0.50000	1.00000	6.494e-5	2.331e-4	
Dominant dystrophic epidermolysis bullosa with absence of skin	Dominant dystrophic epidermolysis bullosa, albopapular type	1	1	COL7A1 (2)	0.50000	1.00000	6.494e-5	2.331e-4	160
Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome	epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome	1	1	ITGA3 (2)	0.50000	1.00000	6.494e-5	2.331e-4	
Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome	Congenital phimosis	1	0	ITGA3 (1)	0.50000	1.00000	6.494e-5	2.331e-4	
Nephropathy with pretibial epidermolysis bullosa and deafness	Nephrotic syndrome-epidermolysis bullosa-sensorineural deafness syndrome	1	1	CD151 (3)	0.50000	1.00000	6.494e-5	2.331e-4	
Dominant dystrophic epidermolysis bullosa, albopapular type	Dystrophic epidermolysis bullosa	1	1	COL7A1 (8)	0.33333	1.00000	1.299e-4	3.931e-4	160
Carvajal syndrome	Lethal acantholytic epidermolysis bullosa	1	1	DSP (3)	0.33333	1.00000	1.299e-4	3.931e-4	201
Epidermolysis bullosa simplex	Sjogren-larsson syndrome	1	1	KRT14 (2)	0.33333	1.00000	1.299e-4	3.931e-4	269
Dominant dystrophic epidermolysis bullosa, albopapular type	Hallopeau siemens disease	1	0	COL7A1 (1)	0.33333	1.00000	1.299e-4	3.931e-4	160
Dominant dystrophic epidermolysis bullosa, albopapular type	Nail dystrophy	1	1	COL7A1 (2)	0.33333	1.00000	1.299e-4	3.931e-4	160
Dominant dystrophic epidermolysis bullosa with absence of skin	Hallopeau siemens disease	1	1	COL7A1 (2)	0.33333	1.00000	1.299e-4	3.931e-4	160
Dominant dystrophic epidermolysis bullosa with absence of skin	Nail dystrophy	1	1	COL7A1 (3)	0.33333	1.00000	1.299e-4	3.931e-4	160
Dominant dystrophic epidermolysis bullosa with absence of skin	Dystrophic epidermolysis bullosa	1	1	COL7A1 (8)	0.33333	1.00000	1.299e-4	3.931e-4	160
arrhythmogenic cardiomyopathy with wooly hair and keratoderma	Lethal acantholytic epidermolysis bullosa	1	1	DSP (3)	0.33333	1.00000	1.299e-4	3.931e-4	201
Lethal acantholytic epidermolysis bullosa	Naxos disease	1	1	JUP (6)	0.33333	1.00000	1.299e-4	3.931e-4	201
Erythrokeratodermia-cardiomyopathy syndrome	Lethal acantholytic epidermolysis bullosa	1	1	DSP (3)	0.33333	1.00000	1.299e-4	3.931e-4	201
Dystrophic epidermolysis bullosa	Hallopeau siemens disease	1	1	COL7A1 (8)	0.25000	0.50000	2.598e-4	6.509e-4	160
Dystrophic epidermolysis bullosa	Nail dystrophy	1	1	COL7A1 (8)	0.25000	0.50000	2.598e-4	6.509e-4	160
Lethal acantholytic epidermolysis bullosa	Ventricular arrhythmia	1	1	DSP (3)	0.25000	0.50000	2.598e-4	6.509e-4	201
Anonychia	Dominant dystrophic epidermolysis bullosa, albopapular type	1	0	COL7A1 (1)	0.20000	1.00000	2.598e-4	6.509e-4	160
Epidermolysis bullosa simplex	Weber-cockayne syndrome	1	1	KRT14 (2)	0.20000	1.00000	2.598e-4	6.509e-4	269
Anonychia	Dominant dystrophic epidermolysis bullosa with absence of skin	1	1	COL7A1 (2)	0.20000	1.00000	2.598e-4	6.509e-4	160
Aplasia cutis congenita	PLEC-related muscular dystrophy-epidermolysis bullosa simplex spectrum disorder	1	1	PLEC (3)	0.16667	1.00000	3.247e-4	7.709e-4	
Epidermolysis bullosa	Fraser syndrome	2	1	FREM2 (6), BCLAF1 (1)	0.05000	0.10000	3.316e-4	7.868e-4	
Epidermolysa bullosa simplex and limb girdle muscular dystrophy	Other epidermolysis bullosa	1	1	PLEC (2)	0.14286	1.00000	3.897e-4	8.665e-4	
Other epidermolysis bullosa	PLEC-related muscular dystrophy-epidermolysis bullosa simplex spectrum disorder	1	1	PLEC (2)	0.14286	1.00000	3.897e-4	8.665e-4	
Anonychia	Dystrophic epidermolysis bullosa	1	1	COL7A1 (8)	0.16667	0.50000	5.195e-4	1.061e-3	160
Epidermolysis bullosa simplex	Tongue neoplasms	1	1	KRT14 (3)	0.09091	1.00000	6.494e-4	1.241e-3	269
Dominant dystrophic epidermolysis bullosa, albopapular type	Duane retraction syndrome	1	0	COL7A1 (1)	0.07692	1.00000	7.793e-4	1.405e-3	160
Dominant dystrophic epidermolysis bullosa with absence of skin	Duane retraction syndrome	1	1	COL7A1 (2)	0.07692	1.00000	7.793e-4	1.405e-3	160
Junctional epidermolysis bullosa	Naxos disease	1	1	JUP (6)	0.05263	1.00000	1.169e-3	1.895e-3	
Junctional epidermolysis bullosa	Laryngo-onycho-cutaneous syndrome	1	1	LAMA3 (7)	0.05263	1.00000	1.169e-3	1.895e-3	
Hearing loss with hypertrophic cardiomyopathy	Junctional epidermolysis bullosa	1	0	MYO6 (1)	0.05263	1.00000	1.169e-3	1.895e-3	
epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome	Junctional epidermolysis bullosa	1	1	ITGA3 (7)	0.05263	1.00000	1.169e-3	1.895e-3	
Epidermolysis bullosa simplex	Junctional epidermolysis bullosa	1	1	KRT14 (2)	0.05263	1.00000	1.169e-3	1.895e-3	
Junctional epidermolysis bullosa	PLEC-related muscular dystrophy-epidermolysis bullosa simplex spectrum disorder	1	1	PLEC (4)	0.05263	1.00000	1.169e-3	1.895e-3	
Epidermolysa bullosa simplex and limb girdle muscular dystrophy	Junctional epidermolysis bullosa	1	1	PLEC (4)	0.05263	1.00000	1.169e-3	1.895e-3	
Dermatopathia pigmentosa reticularis	Junctional epidermolysis bullosa	1	1	KRT14 (6)	0.05263	1.00000	1.169e-3	1.895e-3	
Congenital phimosis	Junctional epidermolysis bullosa	1	1	ITGA3 (7)	0.05263	1.00000	1.169e-3	1.895e-3	
Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome	Junctional epidermolysis bullosa	1	1	ITGA3 (7)	0.05263	1.00000	1.169e-3	1.895e-3	
Junctional epidermolysis bullosa	Salivary gland neoplasms	2	2	KRT5 (2), ITGB4 (6)	0.03279	0.11111	1.186e-3	1.923e-3	
Epidermolysis bullosa	Nephrotic syndrome, deafness, pretibial epidermolysis bullosa syndrome	1	1	CD151 (4)	0.04545	1.00000	1.364e-3	2.148e-3	
Epidermolysis bullosa	Nephrotic syndrome-epidermolysis bullosa-sensorineural deafness syndrome	1	1	CD151 (5)	0.04545	1.00000	1.364e-3	2.148e-3	
Epidermolysis bullosa	occult macular dystrophy	1	1	RP1L1 (2)	0.04545	1.00000	1.364e-3	2.148e-3	
Epidermolysis bullosa	Nephropathy with pretibial epidermolysis bullosa and deafness	1	1	CD151 (5)	0.04545	1.00000	1.364e-3	2.148e-3	
Epidermolysis bullosa	PLEC-related muscular dystrophy-epidermolysis bullosa simplex spectrum disorder	1	1	PLEC (8)	0.04545	1.00000	1.364e-3	2.148e-3	
Epidermolysis bullosa	Ulnar-fibular ray defect and brachydactyly	1	0	RP1L1 (1)	0.04545	1.00000	1.364e-3	2.148e-3	
Epidermolysis bullosa	mucopolysaccharidosis type 2	1	1	IDS (2)	0.04545	1.00000	1.364e-3	2.148e-3	
Epidermolysis bullosa	hereditary sensory and autonomic neuropathy type 6	1	1	DST (7)	0.04545	1.00000	1.364e-3	2.148e-3	
Epidermolysa bullosa simplex and limb girdle muscular dystrophy	Epidermolysis bullosa	1	1	PLEC (8)	0.04545	1.00000	1.364e-3	2.148e-3	
Acral peeling skin syndrome	Junctional epidermolysis bullosa	1	1	CSTA (3)	0.05000	0.50000	2.337e-3	3.243e-3	
Junctional epidermolysis bullosa	Sjogren-larsson syndrome	1	0	KRT14 (1)	0.05000	0.50000	2.337e-3	3.243e-3	
Bronchopulmonary dysplasia	epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome	1	1	ITGA3 (2)	0.02174	1.00000	2.922e-3	3.876e-3	
Bronchopulmonary dysplasia	Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome	1	0	ITGA3 (1)	0.02174	1.00000	2.922e-3	3.876e-3	
Anemia	epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome	1	1	ITGA3 (2)	0.01176	1.00000	5.455e-3	6.632e-3	
Anemia	Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome	1	0	ITGA3 (1)	0.01176	1.00000	5.455e-3	6.632e-3	
Dowling degos disease	Junctional epidermolysis bullosa	1	1	KRT5 (6)	0.04348	0.20000	5.832e-3	7.049e-3	
Kindler epidermolysis bullosa	Skin disease	1	1	FERMT1 (2)	0.00562	1.00000	1.149e-2	1.291e-2	
Kindler epidermolysis bullosa	Ulcerative colitis	1	1	FERMT1 (2)	0.00163	1.00000	3.968e-2	4.153e-2	
Inflammatory bowel disease	Kindler epidermolysis bullosa	1	1	FERMT1 (2)	0.00145	1.00000	4.481e-2	4.657e-2	
Crohn disease	Kindler epidermolysis bullosa	1	1	FERMT1 (2)	0.00145	1.00000	4.481e-2	4.657e-2	
